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clinvar_alleles_example_750_rows.single.b37.vcf
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clinvar_alleles_example_750_rows.single.b37.vcf
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#CHROM POS ID REF ALT QUAL FILTER INFO
1 949523 . C T . . START=949523;STOP=949523;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=183381;RCV=RCV000162196;SCV=SCV000212156;ALLELE_ID=181485;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.163C>T;HGVS_P=NP_005092.1:p.Gln55Ter;MOLECULAR_CONSEQUENCE=NM_005101.3:c.163C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=25307056;ORIGIN=germline;XREFS=MedGen:C4015293|OMIM:616126|Orphanet:319563;DATES_ORDERED=2015-01-01
1 949608 . G A . . START=949608;STOP=949608;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=402986;RCV=RCV000455759;SCV=SCV000539397;ALLELE_ID=389314;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.248G>A;HGVS_P=NP_005092.1:p.Ser83Asn;MOLECULAR_CONSEQUENCE=NM_005101.3:c.248G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_29..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-29
1 949696 . C CG . . START=949699;STOP=949699;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=161455;RCV=RCV000148989;SCV=SCV000196037;ALLELE_ID=171289;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.339dupG;HGVS_P=NP_005092.1:p.Leu114Alafs;MOLECULAR_CONSEQUENCE=NM_005101.3:c.339dupG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=1|22859821|25307056;ORIGIN=germline;XREFS=MedGen:C4015293|OMIM:616126|Orphanet:319563;DATES_ORDERED=2015-01-01
1 949739 . G T . . START=949739;STOP=949739;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=161454;RCV=RCV000148988;SCV=SCV000196036;ALLELE_ID=171288;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.379G>T;HGVS_P=NP_005092.1:p.Glu127Ter;MOLECULAR_CONSEQUENCE=NM_005101.3:c.379G>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=22859821|25307056;ORIGIN=germline;XREFS=MedGen:C4015293|OMIM:616126|Orphanet:319563;DATES_ORDERED=2015-01-01
1 955563 . G C . . START=955563;STOP=955563;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387476;RCV=RCV000424799;SCV=SCV000529531;ALLELE_ID=364282;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.11G>C;HGVS_P=NP_940978.2:p.Arg4Pro;MOLECULAR_CONSEQUENCE=NM_198576.3:c.11G>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-15
1 955596 . C G . . START=955596;STOP=955596;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=377270;RCV=RCV000422793;SCV=SCV000511620;ALLELE_ID=364148;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.44C>G;HGVS_P=NP_940978.2:p.Pro15Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.44C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_03..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2017-02-03-06:00
1 955597 . G T . . START=955597;STOP=955597;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128310;RCV=RCV000116272;SCV=SCV000150190|SCV000519170|SCV000317056;ALLELE_ID=133759;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.45G>T;HGVS_P=NP_940978.2:p.Pro15_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.45G>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-08-29|0000-00-00|2016-02-04
1 955601 . C T . . START=955601;STOP=955601;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=388958;RCV=RCV000437701;SCV=SCV000531361;ALLELE_ID=364285;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.49C>T;HGVS_P=NP_940978.2:p.Leu17Phe;MOLECULAR_CONSEQUENCE=NM_198576.3:c.49C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_07..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-07
1 955619 . G C . . START=955619;STOP=955619;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210112;RCV=RCV000193277;SCV=SCV000317081|SCV000246342;ALLELE_ID=206690;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.67G>C;HGVS_P=NP_940978.2:p.Val23Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.67G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_29..2014;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-09-29|0000-00-00
1 957568 . A G . . START=957568;STOP=957568;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263166;RCV=RCV000250556;SCV=SCV000317015;ALLELE_ID=249265;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.202-13A>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.202-13A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 957605 . G A . . START=957605;STOP=957605;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=243036;RCV=RCV000235037;SCV=SCV000292405;ALLELE_ID=244110;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.226G>A;HGVS_P=NP_940978.2:p.Gly76Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.226G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347|24951643;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2016-07-14
1 957640 . C T . . START=957640;STOP=957640;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128296;RCV=RCV000116258;SCV=SCV000317028|SCV000150176;ALLELE_ID=133745;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.261C>T;HGVS_P=NP_940978.2:p.Asp87_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.261C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 957693 . A T . . START=957693;STOP=957693;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=243037;RCV=RCV000235021;SCV=SCV000292406;ALLELE_ID=244111;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.314A>T;HGVS_P=NP_940978.2:p.Asn105Ile;MOLECULAR_CONSEQUENCE=NM_198576.3:c.314A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347|24951643;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2016-07-14
1 976059 . C T . . START=976059;STOP=976059;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210111;RCV=RCV000195231;SCV=SCV000246341|SCV000317068;ALLELE_ID=206691;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.526C>T;HGVS_P=NP_940978.2:p.Leu176_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.526C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_28..2014;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-10-28|0000-00-00
1 976554 . C G . . START=976554;STOP=976554;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263202;RCV=RCV000241878;SCV=SCV000317082;ALLELE_ID=249305;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.729C>G;HGVS_P=NP_940978.2:p.Gly243_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.729C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 976563 . C T . . START=976563;STOP=976563;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263203;RCV=RCV000246662;SCV=SCV000317083;ALLELE_ID=249306;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.738C>T;HGVS_P=NP_940978.2:p.Asp246_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.738C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 976577 . T C . . START=976577;STOP=976577;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=430121;RCV=RCV000492793;SCV=SCV000582847;ALLELE_ID=421151;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.752T>C;HGVS_P=NP_940978.2:p.Val251Ala;MOLECULAR_CONSEQUENCE=NM_198576.3:c.752T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_22..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-22
1 976598 . C T . . START=976598;STOP=976598;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263204;RCV=RCV000249809;SCV=SCV000317084|SCV000593067;ALLELE_ID=249307;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.773C>T;HGVS_P=NP_940978.2:p.Thr258Ile;MOLECULAR_CONSEQUENCE=NM_198576.3:c.773C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Nov_11..2015;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2015-11-11
1 976629 . C T . . START=976629;STOP=976629;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128320;RCV=RCV000116282;SCV=SCV000150200|SCV000526741;ALLELE_ID=133769;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.804C>T;HGVS_P=NP_940978.2:p.Ala268_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.804C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_20..2016;ALL_SUBMITTERS=GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_specified;ALL_PMIDS=18414213;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|2016-09-20
1 976962 . C T . . START=976962;STOP=976962;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=126556;RCV=RCV000114428|RCV000235030;SCV=SCV000148370|SCV000292407;ALLELE_ID=132069;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1057C>T;HGVS_P=NP_940978.2:p.Gln353Ter;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1057C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Myasthenic_syndrome..congenital..8|MYASTHENIC_SYNDROME..CONGENITAL..8|Congenital_myasthenic_syndrome;ALL_PMIDS=20301347|22205389;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2012-07-01|2016-07-14
1 976963 . A G . . START=976963;STOP=976963;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128291;RCV=RCV000116253;SCV=SCV000150171|SCV000529532;ALLELE_ID=133740;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1058A>G;HGVS_P=NP_940978.2:p.Gln353Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1058A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_10..2016;ALL_SUBMITTERS=GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-11-10
1 977028 . G T . . START=977028;STOP=977028;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263158;RCV=RCV000243499|RCV000430046;SCV=SCV000334297|SCV000317005|SCV000593068|SCV000511758;ALLELE_ID=249308;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1123G>T;HGVS_P=NP_940978.2:p.Ala375Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1123G>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=4;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_02..2017;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Genetic_Services_Laboratory..University_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Genetic_Services_Laboratory..University_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809;DATES_ORDERED=0000-00-00|2015-09-14|2017-02-02|2016-12-30-06:00
1 977330 . T C . . START=977330;STOP=977330;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128292;RCV=RCV000116254;SCV=SCV000150172|SCV000519171|SCV000317006;ALLELE_ID=133741;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1178-6T>C;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1178-6T>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19
1 977516 . T TC . . START=977520;STOP=977520;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=243038;RCV=RCV000235036;SCV=SCV000292408;ALLELE_ID=244112;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1362dupC;HGVS_P=NP_940978.2:p.Ser455GlnfsTer8;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1362dupC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2016-07-14
1 977570 . G A . . START=977570;STOP=977570;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263159;RCV=RCV000251375;SCV=SCV000317007;ALLELE_ID=249309;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1384+28G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1384+28G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 978603 . CCT C . . START=978604;STOP=978605;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263160;RCV=RCV000244801;SCV=SCV000317008;ALLELE_ID=249310;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1385-15_1385-14delCT;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1385-15_1385-14delCT:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_27..2016;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-01-27
1 978628 . C T . . START=978628;STOP=978628;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263161;RCV=RCV000249555;SCV=SCV000317009;ALLELE_ID=249311;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1394C>T;HGVS_P=NP_940978.2:p.Pro465Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1394C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 978668 . G A . . START=978668;STOP=978668;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263162;RCV=RCV000254334;SCV=SCV000317010;ALLELE_ID=249312;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1434G>A;HGVS_P=NP_940978.2:p.Thr478_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1434G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 978762 . G A . . START=978762;STOP=978762;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263163;RCV=RCV000244472;SCV=SCV000519329|SCV000317011;ALLELE_ID=249313;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1528G>A;HGVS_P=NP_940978.2:p.Gly510Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1528G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_24..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-10-24
1 978856 . G A . . START=978856;STOP=978856;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263164;RCV=RCV000249242;SCV=SCV000317012;ALLELE_ID=249314;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1603+19G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1603+19G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 978974 . G A . . START=978974;STOP=978974;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263165;RCV=RCV000254010;SCV=SCV000317013;ALLELE_ID=249315;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1660G>A;HGVS_P=NP_940978.2:p.Val554Met;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1660G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_23..2017;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 979310 . G A . . START=979310;STOP=979310;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390111;RCV=RCV000443642;SCV=SCV000532853;ALLELE_ID=364314;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1906G>A;HGVS_P=NP_940978.2:p.Gly636Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1906G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_20..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-20
1 979397 . G A . . START=979397;STOP=979397;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210106;RCV=RCV000192681;SCV=SCV000317014|SCV000246336;ALLELE_ID=206692;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1993G>A;HGVS_P=NP_940978.2:p.Glu665Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1993G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Feb_13..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-04-30|0000-00-00
1 979514 . C G . . START=979514;STOP=979514;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128293;RCV=RCV000116255;SCV=SCV000317016|SCV000150173;ALLELE_ID=133742;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2025C>G;HGVS_P=NP_940978.2:p.Gly675_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2025C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 979556 . G A . . START=979556;STOP=979556;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263167;RCV=RCV000245482;SCV=SCV000317017;ALLELE_ID=249316;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2067G>A;HGVS_P=NP_940978.2:p.Gln689_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2067G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 979748 . A T . . START=979748;STOP=979748;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128294;RCV=RCV000116256;SCV=SCV000519187|SCV000317018|SCV000150174;ALLELE_ID=133743;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2183A>T;HGVS_P=NP_940978.2:p.Glu728Val;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2183A>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=May_26..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-05-26
1 979835 . G A . . START=979835;STOP=979835;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263168;RCV=RCV000242021;SCV=SCV000317019;ALLELE_ID=249317;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2254+16G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2254+16G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 980552 . G A . . START=980552;STOP=980552;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263169;RCV=RCV000245180;SCV=SCV000317020;ALLELE_ID=249318;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2266G>A;HGVS_P=NP_940978.2:p.Ala756Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2266G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 980557 . G A . . START=980557;STOP=980557;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263170;RCV=RCV000249944;SCV=SCV000317021;ALLELE_ID=249319;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2271G>A;HGVS_P=NP_940978.2:p.Pro757_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2271G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 980669 . A G . . START=980669;STOP=980669;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387477;RCV=RCV000419115;SCV=SCV000529533;ALLELE_ID=364327;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2371+12A>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2371+12A>G:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-15
1 980773 . C T . . START=980773;STOP=980773;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128295;RCV=RCV000116257;SCV=SCV000317022|SCV000150175;ALLELE_ID=133744;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2406C>T;HGVS_P=NP_940978.2:p.Gly802_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2406C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 980824 . G C . . START=980824;STOP=980824;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=190974;RCV=RCV000246474;SCV=SCV000317023|SCV000221340;ALLELE_ID=188780;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2457G>C;HGVS_P=NP_940978.2:p.Gly819_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2457G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_28..2016;ALL_SUBMITTERS=PreventionGenetics|Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre;SUBMITTERS_ORDERED=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-28|0000-00-00
1 980840 . C T . . START=980840;STOP=980840;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210107;RCV=RCV000194095;SCV=SCV000246337;ALLELE_ID=206693;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2473C>T;HGVS_P=NP_940978.2:p.Arg825Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2473C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_14..2015;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-01-14
1 980866 . T C . . START=980866;STOP=980866;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=389918;RCV=RCV000443602;SCV=SCV000532604;ALLELE_ID=364329;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2499T>C;HGVS_P=NP_940978.2:p.Phe833_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2499T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_12..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-12
1 980868 . G A . . START=980868;STOP=980868;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387869;RCV=RCV000424274;SCV=SCV000530043;ALLELE_ID=364336;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2501G>A;HGVS_P=NP_940978.2:p.Arg834Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2501G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-21
1 980948 . C T . . START=980948;STOP=980948;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263171;RCV=RCV000252843;SCV=SCV000317024;ALLELE_ID=249320;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2536+45C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2536+45C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 981087 . A G . . START=981087;STOP=981087;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263172;RCV=RCV000243014;SCV=SCV000317025;ALLELE_ID=249321;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2537-26A>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2537-26A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 981131 . A G . . START=981131;STOP=981131;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263173;RCV=RCV000247794;SCV=SCV000317026;ALLELE_ID=249322;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2555A>G;HGVS_P=NP_940978.2:p.Gln852Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2555A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 981165 . G A . . START=981165;STOP=981165;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263174;RCV=RCV000252551;SCV=SCV000317027;ALLELE_ID=249323;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2589G>A;HGVS_P=NP_940978.2:p.Thr863_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2589G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 981226 . C T . . START=981226;STOP=981226;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390809;RCV=RCV000425529;SCV=SCV000533733;ALLELE_ID=364315;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2650C>T;HGVS_P=NP_940978.2:p.Arg884Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2650C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_18..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-18
1 981328 . C G . . START=981328;STOP=981328;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263175;RCV=RCV000249068;SCV=SCV000317029;ALLELE_ID=249324;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2681-16C>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2681-16C>G:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 981345 . C T . . START=981345;STOP=981345;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263176;RCV=RCV000252248;SCV=SCV000317030;ALLELE_ID=249325;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2682C>T;HGVS_P=NP_940978.2:p.Asp894_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2682C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 981353 . C T . . START=981353;STOP=981353;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=235570;RCV=RCV000224244;SCV=SCV000281252;ALLELE_ID=237251;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2690C>T;HGVS_P=NP_940978.2:p.Ala897Val;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2690C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_21..2015;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2015-12-21-06:00
1 981459 . C T . . START=981459;STOP=981459;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263177;RCV=RCV000244043;SCV=SCV000317031;ALLELE_ID=249326;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2796C>T;HGVS_P=NP_940978.2:p.Asn932_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2796C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 981475 . G A . . START=981475;STOP=981475;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434107;RCV=RCV000500875;SCV=SCV000593069;ALLELE_ID=427605;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2805+7G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2805+7G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_02..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-02
1 981868 . C T . . START=981868;STOP=981868;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263178;RCV=RCV000248800;SCV=SCV000317032;ALLELE_ID=249327;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3003C>T;HGVS_P=NP_940978.2:p.Pro1001_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3003C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 981931 . A G . . START=981931;STOP=981931;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128297;RCV=RCV000116259;SCV=SCV000519172|SCV000317033|SCV000150177;ALLELE_ID=133746;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3066A>G;HGVS_P=NP_940978.2:p.Ser1022_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3066A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19
1 981942 . C A . . START=981942;STOP=981942;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263179;RCV=RCV000245361;SCV=SCV000317034;ALLELE_ID=249328;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3077C>A;HGVS_P=NP_940978.2:p.Thr1026Asn;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3077C>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_23..2017;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 982204 . C T . . START=982204;STOP=982204;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387478;RCV=RCV000429389;SCV=SCV000529534;ALLELE_ID=364294;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3255C>T;HGVS_P=NP_940978.2:p.Leu1085_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3255C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-15
1 982213 . G C . . START=982213;STOP=982213;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128298;RCV=RCV000116260|RCV000431747;SCV=SCV000150178|SCV000317035|SCV000511644;ALLELE_ID=133747;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3264G>C;HGVS_P=NP_940978.2:p.Leu1088Phe;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3264G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jan_02..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809;DATES_ORDERED=0000-00-00|2017-01-02-06:00
1 982234 . C G . . START=982234;STOP=982234;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434108;RCV=RCV000502690;SCV=SCV000593070;ALLELE_ID=427606;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3285C>G;HGVS_P=NP_940978.2:p.Thr1095_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3285C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_11..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-11
1 982356 . G A . . START=982356;STOP=982356;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263180;RCV=RCV000253262;SCV=SCV000317036;ALLELE_ID=249329;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3388+19G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3388+19G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 982722 . A G . . START=982722;STOP=982722;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128299;RCV=RCV000116261;SCV=SCV000150179|SCV000317037;ALLELE_ID=133748;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3404A>G;HGVS_P=NP_940978.2:p.Gln1135Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3404A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 982783 . T C . . START=982783;STOP=982783;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128300;RCV=RCV000116262;SCV=SCV000317038|SCV000150180;ALLELE_ID=133749;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3465T>C;HGVS_P=NP_940978.2:p.Ala1155_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3465T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 982844 . G C . . START=982844;STOP=982844;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128301;RCV=RCV000116263;SCV=SCV000519306|SCV000317039|SCV000150181|SCV000221341;ALLELE_ID=133750;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3516+10G>C;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3516+10G>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_28..2016;ALL_SUBMITTERS=GeneDx|PreventionGenetics|Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-09-28|0000-00-00|2016-02-04
1 982941 . T C . . START=982941;STOP=982941;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263181;RCV=RCV000246305;SCV=SCV000519173|SCV000317040;ALLELE_ID=249331;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3517-12T>C;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3517-12T>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-01-19
1 982994 . T C . . START=982994;STOP=982994;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128302;RCV=RCV000116264;SCV=SCV000150182|SCV000317041|SCV000519174;ALLELE_ID=133751;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3558T>C;HGVS_P=NP_940978.2:p.Phe1186_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3558T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19
1 983006 . C T . . START=983006;STOP=983006;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128303;RCV=RCV000116265;SCV=SCV000150183|SCV000317042;ALLELE_ID=133752;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3570C>T;HGVS_P=NP_940978.2:p.Arg1190_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3570C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 983221 . C T . . START=983221;STOP=983221;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390183;RCV=RCV000438400;SCV=SCV000532953;ALLELE_ID=364341;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3697C>T;HGVS_P=NP_940978.2:p.Arg1233Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3697C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_27..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-27
1 983243 . C T . . START=983243;STOP=983243;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263182;RCV=RCV000247622;SCV=SCV000317043;ALLELE_ID=249332;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3719C>T;HGVS_P=NP_940978.2:p.Pro1240Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3719C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 983256 . C T . . START=983256;STOP=983256;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210108;RCV=RCV000195120;SCV=SCV000317044|SCV000246338;ALLELE_ID=206694;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3732C>T;HGVS_P=NP_940978.2:p.His1244_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3732C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Aug_06..2014;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-08-06|0000-00-00
1 983386 . C T . . START=983386;STOP=983386;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210109;RCV=RCV000192787;SCV=SCV000246339;ALLELE_ID=206695;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3752-6C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3752-6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_12..2015;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-06-12
1 983459 . C T . . START=983459;STOP=983459;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390522;RCV=RCV000426153;SCV=SCV000533375;ALLELE_ID=364331;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3819C>T;HGVS_P=NP_940978.2:p.Ala1273_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3819C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_10..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-10
1 983496 . C A . . START=983496;STOP=983496;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434109;RCV=RCV000504469;SCV=SCV000593071;ALLELE_ID=427607;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3856C>A;HGVS_P=NP_940978.2:p.Pro1286Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3856C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_02..2017;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-02
1 983506 . C T . . START=983506;STOP=983506;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128304;RCV=RCV000116266;SCV=SCV000317045|SCV000150184;ALLELE_ID=133753;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3866C>T;HGVS_P=NP_940978.2:p.Pro1289Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3866C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 983604 . C T . . START=983604;STOP=983604;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128305;RCV=RCV000116267;SCV=SCV000317046|SCV000150185;ALLELE_ID=133754;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3964C>T;HGVS_P=NP_940978.2:p.Arg1322Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3964C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 983612 . G A . . START=983612;STOP=983612;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128306;RCV=RCV000116268;SCV=SCV000317047|SCV000150186;ALLELE_ID=133755;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3972G>A;HGVS_P=NP_940978.2:p.Pro1324_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3972G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 984257 . C T . . START=984257;STOP=984257;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210110;RCV=RCV000193826;SCV=SCV000246340;ALLELE_ID=206696;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4116C>T;HGVS_P=NP_940978.2:p.Ala1372_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4116C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_04..2015;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-04
1 984261 . G T . . START=984261;STOP=984261;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=389927;RCV=RCV000438345;SCV=SCV000532615;ALLELE_ID=364318;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4120G>T;HGVS_P=NP_940978.2:p.Val1374Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4120G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_13..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-13
1 984272 . C T . . START=984272;STOP=984272;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392687;RCV=RCV000445318;SCV=SCV000535996;ALLELE_ID=364322;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4131C>T;HGVS_P=NP_940978.2:p.Phe1377_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4131C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_10..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-10
1 984302 . T C . . START=984302;STOP=984302;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128307;RCV=RCV000116269;SCV=SCV000519276|SCV000150187|SCV000317048;ALLELE_ID=133756;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4161T>C;HGVS_P=NP_940978.2:p.Thr1387_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4161T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19
1 984426 . C T . . START=984426;STOP=984426;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263183;RCV=RCV000248636;SCV=SCV000317049;ALLELE_ID=249333;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4285C>T;HGVS_P=NP_940978.2:p.Arg1429Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4285C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 984450 . A T . . START=984450;STOP=984450;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263184;RCV=RCV000251783;SCV=SCV000317050;ALLELE_ID=249334;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4298+11A>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4298+11A>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 984456 . C T . . START=984456;STOP=984456;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387479;RCV=RCV000440496;SCV=SCV000529535;ALLELE_ID=364323;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4298+17C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4298+17C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-26
1 984669 . C T . . START=984669;STOP=984669;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263185;RCV=RCV000243502;SCV=SCV000317051|SCV000593072;ALLELE_ID=249335;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4352C>T;HGVS_P=NP_940978.2:p.Pro1451Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4352C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Dec_23..2016;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-12-23
1 984769 . C T . . START=984769;STOP=984769;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128308;RCV=RCV000116270;SCV=SCV000317052|SCV000150188;ALLELE_ID=133757;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4452C>T;HGVS_P=NP_940978.2:p.Thr1484_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4452C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 984847 . G C . . START=984847;STOP=984847;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263186;RCV=RCV000253016;SCV=SCV000317053|SCV000526742;ALLELE_ID=249336;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4514+16G>C;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4514+16G>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_20..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-09-20
1 984949 . G A . . START=984949;STOP=984949;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263187;RCV=RCV000244907;SCV=SCV000317054;ALLELE_ID=249337;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4518G>A;HGVS_P=NP_940978.2:p.Ala1506_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4518G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 984971 . G A . . START=984971;STOP=984971;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128309;RCV=RCV000116271;SCV=SCV000150189|SCV000317055;ALLELE_ID=133758;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4540G>A;HGVS_P=NP_940978.2:p.Ala1514Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4540G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_05..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 985070 . G A . . START=985070;STOP=985070;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=252808;RCV=RCV000238604;SCV=SCV000297407|SCV000593075|SCV000564550;ALLELE_ID=246856;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4639G>A;HGVS_P=NP_940978.2:p.Glu1547Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4639G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|uncertain_significance|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=3;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_23..2017;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|GeneDx|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified|not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline|unknown;XREFS=MedGen:CN169374;DATES_ORDERED=2015-09-18|2017-01-23|2015-09-21
1 985126 . G C . . START=985126;STOP=985126;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387480;RCV=RCV000419307;SCV=SCV000529536;ALLELE_ID=364295;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4695G>C;HGVS_P=NP_940978.2:p.Gln1565His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4695G>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-15
1 985162 . G A . . START=985162;STOP=985162;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434110;RCV=RCV000502846;SCV=SCV000593073;ALLELE_ID=427608;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4731G>A;HGVS_P=NP_940978.2:p.Pro1577_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4731G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_01..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-01
1 985171 . C T . . START=985171;STOP=985171;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128311;RCV=RCV000116273;SCV=SCV000150191|SCV000317057;ALLELE_ID=133760;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4740C>T;HGVS_P=NP_940978.2:p.Arg1580_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4740C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 985266 . C T . . START=985266;STOP=985266;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263188;RCV=RCV000250964;SCV=SCV000519277|SCV000317058;ALLELE_ID=249338;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4745-17C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4745-17C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-01-19
1 985307 . GCCCCTGCCAGCCCAA G . . START=985317;STOP=985331;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=291137;RCV=RCV000296346;SCV=SCV000345838;ALLELE_ID=275374;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA;HGVS_P=NP_940978.2:p.Gln1593_Cys1597del;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA:inframe_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_06..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-06
1 985377 . C T . . START=985377;STOP=985377;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263189;RCV=RCV000254107;SCV=SCV000317059;ALLELE_ID=249339;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4839C>T;HGVS_P=NP_940978.2:p.Cys1613_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4839C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 985407 . C A . . START=985407;STOP=985407;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=282708;RCV=RCV000405008;SCV=SCV000334296;ALLELE_ID=266945;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4869C>A;HGVS_P=NP_940978.2:p.Phe1623Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4869C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_14..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-08-14
1 985434 . T A . . START=985434;STOP=985434;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263190;RCV=RCV000245933;SCV=SCV000317060;ALLELE_ID=249340;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4879+17T>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4879+17T>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 985446 . G T . . START=985446;STOP=985446;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263191;RCV=RCV000250684;SCV=SCV000317061;ALLELE_ID=249341;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4879+29G>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4879+29G>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 985449 . G A . . START=985449;STOP=985449;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263192;RCV=RCV000242423;SCV=SCV000317062;ALLELE_ID=249342;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4879+32G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4879+32G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 985797 . A G . . START=985797;STOP=985797;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263193;RCV=RCV000247197;SCV=SCV000519188|SCV000317063;ALLELE_ID=249343;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4977-10A>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4977-10A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jun_21..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-06-21
1 985826 . G A . . START=985826;STOP=985826;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128312;RCV=RCV000116274;SCV=SCV000150192|SCV000317064|SCV000519308;ALLELE_ID=133761;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4996G>A;HGVS_P=NP_940978.2:p.Val1666Ile;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4996G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00|2016-07-15
1 985853 . G A . . START=985853;STOP=985853;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=243039;RCV=RCV000235025;SCV=SCV000292409;ALLELE_ID=244113;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5023G>A;HGVS_P=NP_940978.2:p.Gly1675Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5023G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2016-07-14
1 985855 . C T . . START=985855;STOP=985855;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263194;RCV=RCV000242085;SCV=SCV000532854|SCV000317065;ALLELE_ID=249344;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5025C>T;HGVS_P=NP_940978.2:p.Gly1675_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5025C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Nov_11..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-11-11
1 985900 . C T . . START=985900;STOP=985900;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128313;RCV=RCV000116275;SCV=SCV000317066|SCV000150193|SCV000531981;ALLELE_ID=133762;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5070C>T;HGVS_P=NP_940978.2:p.Phe1690_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5070C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-10-26
1 985955 . G C . . START=985955;STOP=985955;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=18241;RCV=RCV000019902|RCV000235029;SCV=SCV000040200|SCV000292410;ALLELE_ID=33280;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5125G>C;HGVS_P=NP_940978.2:p.Gly1709Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5125G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Myasthenic_syndrome..congenital..8|MYASTHENIC_SYNDROME..CONGENITAL..8|Congenital_myasthenic_syndrome;ALL_PMIDS=19631309|20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2009-08-01|2016-07-14
1 986143 . G T . . START=986143;STOP=986143;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=126555;RCV=RCV000114427|RCV000235038;SCV=SCV000148369|SCV000292411;ALLELE_ID=132068;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5179G>T;HGVS_P=NP_940978.2:p.Val1727Phe;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5179G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Myasthenic_syndrome..congenital..8|MYASTHENIC_SYNDROME..CONGENITAL..8|Congenital_myasthenic_syndrome;ALL_PMIDS=20301347|22205389;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2012-07-01|2016-07-14
1 986165 . G A . . START=986165;STOP=986165;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263195;RCV=RCV000251658;SCV=SCV000317067|SCV000532616;ALLELE_ID=249345;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5201G>A;HGVS_P=NP_940978.2:p.Arg1734His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5201G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_13..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-10-13
1 986716 . C T . . START=986716;STOP=986716;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263196;RCV=RCV000246601;SCV=SCV000317069;ALLELE_ID=249346;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5337C>T;HGVS_P=NP_940978.2:p.Ala1779_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5337C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 986731 . C T . . START=986731;STOP=986731;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263197;RCV=RCV000252836;SCV=SCV000317070;ALLELE_ID=249347;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5352C>T;HGVS_P=NP_940978.2:p.Phe1784_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5352C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 986732 . G A . . START=986732;STOP=986732;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128314;RCV=RCV000116276|RCV000244639;SCV=SCV000150194|SCV000528652|SCV000317071;ALLELE_ID=133763;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5353G>A;HGVS_P=NP_940978.2:p.Asp1785Asn;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5353G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_10..2017;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_provided|not_specified|NOT_SPECIFIED;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN169374;DATES_ORDERED=2013-08-23|0000-00-00|2017-01-10
1 986737 . T C . . START=986737;STOP=986737;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128315;RCV=RCV000116277;SCV=SCV000150195|SCV000317072|SCV000526743;ALLELE_ID=133764;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5358T>C;HGVS_P=NP_940978.2:p.Gly1786_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5358T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_20..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00|2016-09-20
1 986760 . G A . . START=986760;STOP=986760;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263198;RCV=RCV000254171;SCV=SCV000532617|SCV000317073;ALLELE_ID=249348;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5370+11G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5370+11G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_13..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-10-13
1 986849 . G A . . START=986849;STOP=986849;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=424015;RCV=RCV000485746;SCV=SCV000573787;ALLELE_ID=404872;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5387G>A;HGVS_P=NP_940978.2:p.Arg1796His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5387G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_07..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-07
1 987116 . G A . . START=987116;STOP=987116;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=397549;RCV=RCV000449559;SCV=SCV000537756;ALLELE_ID=384432;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5572G>A;HGVS_P=NP_940978.2:p.Glu1858Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5572G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_17..2016;ALL_SUBMITTERS=Genome_Clinic_of_Geneva..University_Hospital_of_Geneva;SUBMITTERS_ORDERED=Genome_Clinic_of_Geneva..University_Hospital_of_Geneva;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-03-17
1 987142 . C T . . START=987142;STOP=987142;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128316;RCV=RCV000116278;SCV=SCV000317074|SCV000150196;ALLELE_ID=133765;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5598C>T;HGVS_P=NP_940978.2:p.Thr1866_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5598C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 987155 . G A . . START=987155;STOP=987155;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=243040;RCV=RCV000235024;SCV=SCV000292412;ALLELE_ID=244114;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5611G>A;HGVS_P=NP_940978.2:p.Gly1871Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5611G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2016-07-14
1 987159 . G A . . START=987159;STOP=987159;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=388957;RCV=RCV000427038;SCV=SCV000531360;ALLELE_ID=364297;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5615G>A;HGVS_P=NP_940978.2:p.Arg1872Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5615G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_07..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-07
1 987187 . G A . . START=987187;STOP=987187;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390523;RCV=RCV000433372;SCV=SCV000533376;ALLELE_ID=364332;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5643G>A;HGVS_P=NP_940978.2:p.Val1881_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5643G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_10..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-10
1 987191 . G A . . START=987191;STOP=987191;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263199;RCV=RCV000249073;SCV=SCV000317075;ALLELE_ID=249349;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5647G>A;HGVS_P=NP_940978.2:p.Glu1883Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5647G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 987200 . C T . . START=987200;STOP=987200;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128317;RCV=RCV000116279;SCV=SCV000317076|SCV000519175|SCV000150197;ALLELE_ID=133766;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5651+5C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5651+5C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19
1 989207 . G C . . START=989207;STOP=989207;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128318;RCV=RCV000116280;SCV=SCV000150198|SCV000317077;ALLELE_ID=133767;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5726G>C;HGVS_P=NP_940978.2:p.Ser1909Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5726G>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00
1 989224 . C T . . START=989224;STOP=989224;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=422180;RCV=RCV000485272;SCV=SCV000571586;ALLELE_ID=404873;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5743C>T;HGVS_P=NP_940978.2:p.Arg1915Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5743C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_21..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-21
1 989313 . C T . . START=989313;STOP=989313;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434111;RCV=RCV000499981;SCV=SCV000593074;ALLELE_ID=427609;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5832C>T;HGVS_P=NP_940978.2:p.Thr1944_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5832C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_11..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-11
1 989811 . C A . . START=989811;STOP=989811;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263200;RCV=RCV000250424;SCV=SCV000317078;ALLELE_ID=249351;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5877-17C>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5877-17C>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 990213 . C T . . START=990213;STOP=990213;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=430302;RCV=RCV000492841;SCV=SCV000583076;ALLELE_ID=421152;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5990C>T;HGVS_P=NP_940978.2:p.Pro1997Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5990C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_22..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-22
1 990242 . A G . . START=990242;STOP=990242;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=385926;RCV=RCV000425631;SCV=SCV000527367;ALLELE_ID=364344;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.6019A>G;HGVS_P=NP_940978.2:p.Lys2007Glu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.6019A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_02..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-05-02
1 990277 . G A . . START=990277;STOP=990277;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263201;RCV=RCV000253570;SCV=SCV000317079;ALLELE_ID=249352;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.6054G>A;HGVS_P=NP_940978.2:p.Arg2018_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.6054G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 990280 . C T . . START=990280;STOP=990280;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128319;RCV=RCV000116281;SCV=SCV000150199|SCV000519176|SCV000317080;ALLELE_ID=133768;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.6057C>T;HGVS_P=NP_940978.2:p.Asp2019_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.6057C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19
1 990380 . C T . . START=990380;STOP=990380;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263157;RCV=RCV000252490;SCV=SCV000317004|SCV000519189;ALLELE_ID=249353;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.*19C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.*19C>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-02-01
1 1147422 . C T . . START=1147422;STOP=1147422;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=403556;RCV=RCV000455786;SCV=SCV000540562;ALLELE_ID=389315;SYMBOL=TNFRSF4;HGVS_C=NM_003327.3:c.534G>A;HGVS_P=NP_003318.1:p.Glu178_eq_;MOLECULAR_CONSEQUENCE=NM_003327.3:c.534G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_28..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-28
1 1149118 . G A . . START=1149118;STOP=1149118;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=96692;RCV=RCV000082860;SCV=SCV000114912;ALLELE_ID=102585;SYMBOL=TNFRSF4;HGVS_C=NM_003327.3:c.193C>T;HGVS_P=NP_003318.1:p.Arg65Cys;MOLECULAR_CONSEQUENCE=NM_003327.3:c.193C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_26..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_16|IMMUNODEFICIENCY_16_(1_patient);ALL_PMIDS=23897980;ORIGIN=germline;XREFS=MedGen:C3810053|OMIM:615593|Orphanet:431149;DATES_ORDERED=2013-08-26
1 1167636 . G A . . START=1167636;STOP=1167636;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390144;RCV=RCV000433352;SCV=SCV000532898;ALLELE_ID=364446;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.-23G>A;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_20..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-20
1 1167659 . A G . . START=1167659;STOP=1167659;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60484;RCV=RCV000054390;SCV=SCV000082867;ALLELE_ID=75079;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.1A>G;HGVS_P=NP_542172.2:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_080605.3:c.1A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06
1 1167674 . C T . . START=1167674;STOP=1167674;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60493;RCV=RCV000054399;SCV=SCV000082876;ALLELE_ID=75088;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.16C>T;HGVS_P=NP_542172.2:p.Arg6Trp;MOLECULAR_CONSEQUENCE=NM_080605.3:c.16C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06
1 1167675 . G A . . START=1167675;STOP=1167675;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=429685;RCV=RCV000493202;SCV=SCV000582314;ALLELE_ID=421163;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.17G>A;HGVS_P=NP_542172.2:p.Arg6Gln;MOLECULAR_CONSEQUENCE=NM_080605.3:c.17G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_08..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-08
1 1167680 . T G . . START=1167680;STOP=1167680;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193479;RCV=RCV000173551;SCV=SCV000224673;ALLELE_ID=190643;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.22T>G;HGVS_P=NP_542172.2:p.Trp8Gly;MOLECULAR_CONSEQUENCE=NM_080605.3:c.22T>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_05..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-05
1 1167689 . C T . . START=1167689;STOP=1167689;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386485;RCV=RCV000444888;SCV=SCV000528170;ALLELE_ID=364354;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.31C>T;HGVS_P=NP_542172.2:p.Arg11Trp;MOLECULAR_CONSEQUENCE=NM_080605.3:c.31C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_17..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-05-17
1 1167704 . C T . . START=1167704;STOP=1167704;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391547;RCV=RCV000441345;SCV=SCV000534639;ALLELE_ID=364403;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.46C>T;HGVS_P=NP_542172.2:p.Leu16_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.46C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_09..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-09
1 1167765 . C T . . START=1167765;STOP=1167765;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392324;RCV=RCV000431606;SCV=SCV000535577;ALLELE_ID=364451;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.107C>T;HGVS_P=NP_542172.2:p.Pro36Leu;MOLECULAR_CONSEQUENCE=NM_080605.3:c.107C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_04..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-04
1 1167796 . C T . . START=1167796;STOP=1167796;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193478;RCV=RCV000173550;SCV=SCV000224672|SCV000525607;ALLELE_ID=190642;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.138C>T;HGVS_P=NP_542172.2:p.Ser46_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.138C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_29..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-10|2016-09-29
1 1167838 . A G . . START=1167838;STOP=1167838;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=288791;RCV=RCV000380808;SCV=SCV000343009;ALLELE_ID=273028;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.180A>G;HGVS_P=NP_542172.2:p.Ala60_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.180A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_21..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-21
1 1167851 . A G . . START=1167851;STOP=1167851;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60488;RCV=RCV000054394;SCV=SCV000082871;ALLELE_ID=75083;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.193A>G;HGVS_P=NP_542172.2:p.Ser65Gly;MOLECULAR_CONSEQUENCE=NM_080605.3:c.193A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06
1 1167858 . C T . . START=1167858;STOP=1167858;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60489;RCV=RCV000054395;SCV=SCV000082872;ALLELE_ID=75084;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.200C>T;HGVS_P=NP_542172.2:p.Pro67Leu;MOLECULAR_CONSEQUENCE=NM_080605.3:c.200C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06
1 1167996 . A G . . START=1167996;STOP=1167996;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=424885;RCV=RCV000488044;SCV=SCV000574737;ALLELE_ID=413219;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.338A>G;HGVS_P=NP_542172.2:p.Gln113Arg;MOLECULAR_CONSEQUENCE=NM_080605.3:c.338A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_31..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-03-31
1 1168010 . GA G . . START=1168011;STOP=1168011;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60490;RCV=RCV000054396;SCV=SCV000082873;ALLELE_ID=75085;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.353delA;HGVS_P=NP_542172.2:p.Asp118Alafs;MOLECULAR_CONSEQUENCE=NM_080605.3:c.353delA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06
1 1168012 . C CCTG . . START=1168023;STOP=1168025;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=421834;RCV=RCV000485868;SCV=SCV000571148;ALLELE_ID=404899;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.365_367dupTGC;HGVS_P=NP_542172.2:p.Leu122_Pro123insLeu;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_04..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-04
1 1168025 . C T . . START=1168025;STOP=1168025;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387709;RCV=RCV000432423;SCV=SCV000529832;ALLELE_ID=364408;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.367C>T;HGVS_P=NP_542172.2:p.Pro123Ser;MOLECULAR_CONSEQUENCE=NM_080605.3:c.367C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_05..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-05
1 1168064 . GTGCTGGCCA G . . START=1168073;STOP=1168081;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60494;RCV=RCV000054400;SCV=SCV000082877;ALLELE_ID=75089;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.415_423delATGCTGGCC;HGVS_P=NP_542172.2:p.Met139_Ala141del;MOLECULAR_CONSEQUENCE=NM_080605.3:c.415_423delATGCTGGCC:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06
1 1168115 . C A . . START=1168115;STOP=1168115;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390636;RCV=RCV000431776;SCV=SCV000533522;ALLELE_ID=364355;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.457C>A;HGVS_P=NP_542172.2:p.Leu153Ile;MOLECULAR_CONSEQUENCE=NM_080605.3:c.457C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_09..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-09
1 1168124 . G A . . START=1168124;STOP=1168124;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60486;RCV=RCV000054392;SCV=SCV000082869;ALLELE_ID=75081;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.466G>A;HGVS_P=NP_542172.2:p.Asp156Asn;MOLECULAR_CONSEQUENCE=NM_080605.3:c.466G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06
1 1168173 . C T . . START=1168173;STOP=1168173;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373234;RCV=RCV000413594;SCV=SCV000491813;ALLELE_ID=359211;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.515C>T;HGVS_P=NP_542172.2:p.Ala172Val;MOLECULAR_CONSEQUENCE=NM_080605.3:c.515C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_25..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-25
1 1168180 . G C . . START=1168180;STOP=1168180;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=281204;RCV=RCV000287240;SCV=SCV000524226|SCV000331726;ALLELE_ID=265441;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.522G>C;HGVS_P=NP_542172.2:p.Glu174Asp;MOLECULAR_CONSEQUENCE=NM_080605.3:c.522G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_18..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-04|2016-10-18
1 1168239 . CG C . . START=1168246;STOP=1168246;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60492;RCV=RCV000054398;SCV=SCV000082875;ALLELE_ID=75087;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.588delG;HGVS_P=NP_542172.2:p.Arg197Alafs;MOLECULAR_CONSEQUENCE=NM_080605.3:c.588delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06
1 1168241 . G C . . START=1168241;STOP=1168241;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390607;RCV=RCV000425752|RCV000513657;SCV=SCV000533484|SCV000608448;ALLELE_ID=364455;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.583G>C;HGVS_P=NP_542172.2:p.Gly195Arg;MOLECULAR_CONSEQUENCE=NM_080605.3:c.583G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_30..2017;ALL_SUBMITTERS=GeneDx|Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=GeneDx|Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_specified|not_provided;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2016-11-03|2017-04-30
1 1168245 . G T . . START=1168245;STOP=1168245;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=281706;RCV=RCV000408441;SCV=SCV000332633|SCV000524227;ALLELE_ID=265943;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.587G>T;HGVS_P=NP_542172.2:p.Gly196Val;MOLECULAR_CONSEQUENCE=NM_080605.3:c.587G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Feb_29..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-06-25|2016-02-29
1 1168262 . G A . . START=1168262;STOP=1168262;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423210;RCV=RCV000478140;SCV=SCV000572872;ALLELE_ID=404900;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.604G>A;HGVS_P=NP_542172.2:p.Ala202Thr;MOLECULAR_CONSEQUENCE=NM_080605.3:c.604G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_30..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-30
1 1168277 . G C . . START=1168277;STOP=1168277;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60495;RCV=RCV000054401;SCV=SCV000082878;ALLELE_ID=75090;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.619G>C;HGVS_P=NP_542172.2:p.Asp207His;MOLECULAR_CONSEQUENCE=NM_080605.3:c.619G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity..type_1..with_fractures|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1..WITH_FRACTURES;ALL_PMIDS=23664118;ORIGIN=germline;XREFS=MedGen:C4017378;DATES_ORDERED=2013-06-06
1 1168307 . G A . . START=1168307;STOP=1168307;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60496;RCV=RCV000054402;SCV=SCV000082879;ALLELE_ID=75091;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.649G>A;HGVS_P=NP_542172.2:p.Gly217Ser;MOLECULAR_CONSEQUENCE=NM_080605.3:c.649G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity..type_1..with_fractures|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1..WITH_FRACTURES;ALL_PMIDS=23664118;ORIGIN=germline;XREFS=MedGen:C4017378;DATES_ORDERED=2013-06-06
1 1168352 . C T . . START=1168352;STOP=1168352;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60485;RCV=RCV000054391;SCV=SCV000082868;ALLELE_ID=75080;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.694C>T;HGVS_P=NP_542172.2:p.Arg232Cys;MOLECULAR_CONSEQUENCE=NM_080605.3:c.694C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06
1 1168357 . C T . . START=1168357;STOP=1168357;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=290128;RCV=RCV000295132;SCV=SCV000344630;ALLELE_ID=274365;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.699C>T;HGVS_P=NP_542172.2:p.Asp233_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.699C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_05..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-05
1 1168411 . G A . . START=1168411;STOP=1168411;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=283369;RCV=RCV000266846;SCV=SCV000335404;ALLELE_ID=267606;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.753G>A;HGVS_P=NP_542172.2:p.Pro251_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.753G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_04..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-10-04
1 1168492 . G A . . START=1168492;STOP=1168492;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=283589;RCV=RCV000389593;SCV=SCV000335787;ALLELE_ID=267826;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.834G>A;HGVS_P=NP_542172.2:p.Thr278_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.834G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-10-08
1 1168511 . G A . . START=1168511;STOP=1168511;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=283597;RCV=RCV000360273;SCV=SCV000335795;ALLELE_ID=267834;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.853G>A;HGVS_P=NP_542172.2:p.Asp285Asn;MOLECULAR_CONSEQUENCE=NM_080605.3:c.853G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-10-08
1 1168557 . G C . . START=1168557;STOP=1168557;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60487;RCV=RCV000054393;SCV=SCV000082870;ALLELE_ID=75082;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.899G>C;HGVS_P=NP_542172.2:p.Cys300Ser;MOLECULAR_CONSEQUENCE=NM_080605.3:c.899G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06
1 1168567 . G A . . START=1168567;STOP=1168567;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193477;RCV=RCV000173549;SCV=SCV000224671;ALLELE_ID=190641;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.909G>A;HGVS_P=NP_542172.2:p.Glu303_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.909G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_10..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-10
1 1168583 . T A . . START=1168583;STOP=1168583;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60491;RCV=RCV000054397;SCV=SCV000082874;ALLELE_ID=75086;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.925T>A;HGVS_P=NP_542172.2:p.Ser309Thr;MOLECULAR_CONSEQUENCE=NM_080605.3:c.925T>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06
1 1271772 . C T . . START=1271772;STOP=1271772;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=391198;RCV=RCV000437568;SCV=SCV000534215;ALLELE_ID=364458;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1763G>A;HGVS_P=NP_004412.2:p.Gly588Glu;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1763G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_19..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-19
1 1273380 . CT C . . START=1273381;STOP=1273381;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208047;RCV=RCV000193819;SCV=SCV000256690|SCV000243851;ALLELE_ID=204306;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1615delA;HGVS_P=NP_004412.2:p.Ser539Alafs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1615delA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086|24088041|25577943|25817016;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-07-30|2015-03-26
1 1273413 . TAGGCAGG C . . START=1273413;STOP=1273420;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208050;RCV=RCV000194315;SCV=SCV000243854|SCV000222664;ALLELE_ID=204307;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1576_1583delCCTGCCTAinsG;HGVS_P=NP_004412.2:p.Pro526Alafs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1576_1583delCCTGCCTAinsG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=22431878|25577943|25817014;ORIGIN=germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30
1 1273425 . AA G . . START=1273425;STOP=1273426;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208043;RCV=RCV000192810;SCV=SCV000243847|SCV000256686|SCV000222660;ALLELE_ID=204308;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1570_1571delTTinsC;HGVS_P=NP_004412.2:p.Phe524Profs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1570_1571delTTinsC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic|pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086|24088041|25577943|25817016;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30|2015-03-26
1 1273433 . TG T . . START=1273434;STOP=1273434;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208049;RCV=RCV000193267;SCV=SCV000222662|SCV000243853;ALLELE_ID=204309;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1562delC;HGVS_P=NP_004412.2:p.Pro521Hisfs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1562delC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=25045061|25577943|25817014;ORIGIN=germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30
1 1273466 . AC A . . START=1273467;STOP=1273467;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208048;RCV=RCV000195217;SCV=SCV000256691|SCV000243852;ALLELE_ID=204310;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1529delG;HGVS_P=NP_004412.2:p.Gly510Valfs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1529delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086|24088041|25577943|25817016;ORIGIN=germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-07-30|2015-03-26
1 1273472 . AG A . . START=1273474;STOP=1273474;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=219223;RCV=RCV000208706;SCV=SCV000257460;ALLELE_ID=217239;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1522delC;HGVS_P=NP_004412.2:p.Pro508Leufs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1522delC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2;ALL_PMIDS=23806086|24088041|25577943|26924530;ORIGIN=de_novo;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-12-01
1 1273476 . CA C . . START=1273477;STOP=1273477;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208045;RCV=RCV000195250;SCV=SCV000222663|SCV000243849|SCV000256688;ALLELE_ID=204311;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1519delT;HGVS_P=NP_004412.2:p.Trp507Glyfs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1519delT:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic|pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086|24088041|25045061|25577943|25817014|25817016;ORIGIN=germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30|2015-03-26
1 1273478 . GGGGGCAGCCGGGT G . . START=1273479;STOP=1273491;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208044;RCV=RCV000193850;SCV=SCV000256687|SCV000222659|SCV000243848;ALLELE_ID=204312;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1505_1517delACCCGGCTGCCCC;HGVS_P=NP_004412.2:p.His502Profs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic|pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086|24088041|25577943|25817016;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30|2015-03-26
1 1273487 . CG C . . START=1273488;STOP=1273488;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208046;RCV=RCV000192930;SCV=SCV000222661|SCV000243850|SCV000256689;ALLELE_ID=204313;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1508delC;HGVS_P=NP_004412.2:p.Pro503Argfs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1508delC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic|pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=10319206|23806086|24088041|25577943|25817016;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30|2015-03-26
1 1273909 . G GGCATTGGC . . START=1273910;STOP=1273910;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=373812;RCV=RCV000413003;SCV=SCV000492436;ALLELE_ID=359205;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1249_1256dupGCCAATGC;HGVS_P=NP_004412.2:p.Val420Profs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1249_1256dupGCCAATGC:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_08..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-12-08
1 1274768 . G A . . START=1274768;STOP=1274768;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=391268;RCV=RCV000429612;SCV=SCV000534300;ALLELE_ID=364462;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1106C>T;HGVS_P=NP_004412.2:p.Ala369Val;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1106C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_16..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-16
1 1277039 . CCA C . . START=1277040;STOP=1277041;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=376849;RCV=RCV000429733;SCV=SCV000510745;ALLELE_ID=363727;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.605+6_605+7delTG;MOLECULAR_CONSEQUENCE=NM_004421.2:c.605+6_605+7delTG:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2017-01-18-06:00
1 1289293 . A T . . START=1289293;STOP=1289293;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=402162;RCV=RCV000454237;SCV=SCV000537939;ALLELE_ID=389106;SYMBOL=MXRA8;HGVS_C=NM_032348.3:c.1238T>A;HGVS_P=NP_115724.1:p.Ile413Asn;MOLECULAR_CONSEQUENCE=NM_032348.3:c.1238T>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Abnormality_of_brain_morphology;ALL_PMIDS=26539891;ORIGIN=inherited;XREFS=HP:HP:0012443|Human_Phenotype_Ontology:HP:0012443|MedGen:C4021085;DATES_ORDERED=0000-00-00
1 1391201 . G A . . START=1391201;STOP=1391201;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423820;RCV=RCV000479669;SCV=SCV000573565;ALLELE_ID=404901;SYMBOL=ATAD3C;HGVS_C=NM_001039211.2:c.469G>A;HGVS_P=NP_001034300.2:p.Ala157Thr;MOLECULAR_CONSEQUENCE=NM_001039211.2:c.469G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_28..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-28
1 1447806 . C T . . START=1447806;STOP=1447806;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=225697;RCV=RCV000412620|RCV000488882;SCV=SCV000490327|SCV000267602;ALLELE_ID=227512;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.158C>T;HGVS_P=NP_060658.3:p.Thr53Ile;MOLECULAR_CONSEQUENCE=NM_001170536.1:c.-297C>T:2KB_upstream_variant|NM_018188.4:c.158C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|uncertain_significance;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Harel-Yoon_syndrome|HAREL-YOON_SYNDROME..AUTOSOMAL_RECESSIVE|not_specified|Congenital_cataracts|Ataxia|Seizure;ALL_PMIDS=27640307;ORIGIN=germline;XREFS=MedGen:C4310677|OMIM:617183|MedGen:CN169374;DATES_ORDERED=2016-11-29|2016-04-26
1 1451415 . C G . . START=1451415;STOP=1451415;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432628;RCV=RCV000498349;SCV=SCV000590377;ALLELE_ID=425308;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.229C>G;HGVS_P=NP_060658.3:p.Leu77Val;MOLECULAR_CONSEQUENCE=NM_018188.4:c.229C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_06..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-06
1 1464679 . C T . . START=1464679;STOP=1464679;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=225696;RCV=RCV000412539|RCV000488909;SCV=SCV000490326|SCV000494159|SCV000267601;ALLELE_ID=227511;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.1726C>T;HGVS_P=NP_060658.3:p.Arg576Trp;MOLECULAR_CONSEQUENCE=NM_018188.4:c.1726C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Harel-Yoon_syndrome|HAREL-YOON_SYNDROME|not_provided|Developmental_delay|Peripheral_neuropathy|Optic_atrophy|Cardiomyopathy;ALL_PMIDS=27640307;ORIGIN=de_novo|unknown|germline;XREFS=MedGen:C4310677|OMIM:617183|MedGen:CN221809;DATES_ORDERED=2016-11-29|0000-00-00|2016-04-26
1 1470750 . G A . . START=1470750;STOP=1470750;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161196;RCV=RCV000148348;SCV=SCV000195812;ALLELE_ID=171043;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.511C>T;HGVS_P=NP_001108220.1:p.Arg171Trp;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.511C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888|20301317|25070513;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773;DATES_ORDERED=2014-10-01
1 1470752 . G A . . START=1470752;STOP=1470752;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161192;RCV=RCV000148344|RCV000322616;SCV=SCV000597502|SCV000195808|SCV000330042;ALLELE_ID=171039;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.509C>T;HGVS_P=NP_001108220.1:p.Pro170Leu;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.509C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_08..2017;ALL_SUBMITTERS=OMIM|Genetic_Services_Laboratory..University_of_Chicago|GeneDx;SUBMITTERS_ORDERED=OMIM|Genetic_Services_Laboratory..University_of_Chicago|GeneDx;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21|not_provided|Not_Provided;ALL_PMIDS=11160961|20050888|20301317|25070513|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773|MedGen:CN221809;DATES_ORDERED=2014-10-01|2017-06-08|2015-11-26
1 1470772 . G C . . START=1470772;STOP=1470772;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161193;RCV=RCV000148345;SCV=SCV000195809;ALLELE_ID=171040;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.489C>G;HGVS_P=NP_001108220.1:p.Tyr163Ter;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.489C>G:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888|20301317|25070513;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773;DATES_ORDERED=2014-10-01
1 1470837 . G A . . START=1470837;STOP=1470837;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=393221;RCV=RCV000424137;SCV=SCV000536598;ALLELE_ID=364388;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.424C>T;HGVS_P=NP_001108220.1:p.Arg142Trp;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.424C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-25
1 1470969 . C T . . START=1470969;STOP=1470969;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=373233;RCV=RCV000413204;SCV=SCV000491812;ALLELE_ID=359223;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.373G>A;HGVS_P=NP_001108220.1:p.Asp125Asn;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.373G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_22..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-22
1 1470996 . G A . . START=1470996;STOP=1470996;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161194;RCV=RCV000148346;SCV=SCV000195810;ALLELE_ID=171041;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.346C>T;HGVS_P=NP_001108220.1:p.Arg116Cys;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.346C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888|20301317|25070513;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773;DATES_ORDERED=2014-10-01
1 1470998 . A G . . START=1470998;STOP=1470998;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=437011;RCV=RCV000503526;SCV=SCV000597503;ALLELE_ID=427636;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.344T>C;HGVS_P=NP_001108220.1:p.Val115Ala;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.344T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_17..2015;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-17
1 1471103 . G A . . START=1471103;STOP=1471103;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161195;RCV=RCV000148347;SCV=SCV000195811;ALLELE_ID=171042;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.239C>T;HGVS_P=NP_001108220.1:p.Thr80Met;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.239C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888|20301317|25070513;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773;DATES_ORDERED=2014-10-01
1 1471146 . C T . . START=1471146;STOP=1471146;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=372833;RCV=RCV000413958;SCV=SCV000491361;ALLELE_ID=359235;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.196G>A;HGVS_P=NP_001108220.1:p.Gly66Arg;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.196G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_27..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-01-27
1 1550992 . C A . . START=1550992;STOP=1550992;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=218832;RCV=RCV000202894;SCV=SCV000258233;ALLELE_ID=215186;SYMBOL=MIB2;HGVS_C=NM_080875.2:c.153C>A;HGVS_P=NP_543151.2:p.Cys51Ter;MOLECULAR_CONSEQUENCE=NM_001170689.1:c.-618C>A:2KB_upstream_variant|NM_080875.2:c.153C>A:nonsense|NR_033183.1:n.198C>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_11..2015;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;XREFS=MedGen:CN169374;DATES_ORDERED=2015-06-11
1 1637084 . TTTTC T . . START=1637085;STOP=1637088;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=421783;RCV=RCV000480151;SCV=SCV000571086;ALLELE_ID=404982;SYMBOL=CDK11A;HGVS_C=NM_024011.3:c.1329_1332delGAAA;HGVS_P=NP_076916.2:p.Lys444Glnfs;MOLECULAR_CONSEQUENCE=NM_024011.3:c.1329_1332delGAAA:frameshift_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-25
1 1718817 . C T . . START=1718817;STOP=1718817;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224718;RCV=RCV000210260;SCV=SCV000266340;ALLELE_ID=226495;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.976G>A;HGVS_P=NP_002065.1:p.Ala326Thr;MOLECULAR_CONSEQUENCE=NM_002074.4:c.976G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Seizures|Intellectual_disability|Global_developmental_delay|Generalized_tonic-clonic_seizures|Muscular_hypotonia;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0001249|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0002069|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001306|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0002069|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002407|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007252|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0010520|MedGen:C0036572|MedGen:C0494475|MedGen:C1843367|MedGen:C4020875|MedGen:CN001147;DATES_ORDERED=2016-02-10
1 1720541 . G A . . START=1720541;STOP=1720541;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=444148;RCV=RCV000512793;SCV=SCV000608449;ALLELE_ID=437788;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.867C>T;HGVS_P=NP_002065.1:p.Tyr289_eq_;MOLECULAR_CONSEQUENCE=NM_002074.4:c.867C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_31..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-05-31
1 1735942 . C T . . START=1735942;STOP=1735942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=444149;RCV=RCV000513217;SCV=SCV000608450;ALLELE_ID=437789;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.346G>A;HGVS_P=NP_002065.1:p.Gly116Ser;MOLECULAR_CONSEQUENCE=NM_002074.4:c.346G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_31..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-05-31
1 1735987 . T C . . START=1735987;STOP=1735987;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224717;RCV=RCV000210283|RCV000225171|RCV000480671;SCV=SCV000266339|SCV000282065|SCV000571181;ALLELE_ID=226496;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.301A>G;HGVS_P=NP_002065.1:p.Met101Val;MOLECULAR_CONSEQUENCE=NM_002074.4:c.301A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Mar_17..2017;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;ALL_TRAITS=Expressive_language_delay|Seizures|Focal_seizures_with_impairment_of_consciousness_or_awareness|Intellectual_disability|Global_developmental_delay|Generalized_tonic-clonic_seizures|Developmental_regression|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|not_provided|Not_Provided;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo|germline;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0001249|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0002069|HP:HP:0002376|HP:HP:0002384|HP:HP:0002474|HP:HP:0010841|HP:HP:0011198|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001306|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0002069|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002376|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002384|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002407|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002471|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002474|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002489|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006797|Human_Phenotype_Ontology:HP:0006828|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0006854|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007037|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0007192|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007242|Human_Phenotype_Ontology:HP:0007247|Human_Phenotype_Ontology:HP:0007252|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010841|Human_Phenotype_Ontology:HP:0010842|Human_Phenotype_Ontology:HP:0011198|MedGen:C0036572|MedGen:C0149958|MedGen:C0494475|MedGen:C1843367|MedGen:C1847610|MedGen:C1855009|MedGen:C4020875|MedGen:C4021219|MedGen:C4023476|MedGen:CN001147|MedGen:C4310774|OMIM:616973|MedGen:CN221809;DATES_ORDERED=2016-02-10|2016-08-08|2017-03-17
1 1736004 . A G . . START=1736004;STOP=1736004;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224716;RCV=RCV000210270;SCV=SCV000266338;ALLELE_ID=226497;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.284T>C;HGVS_P=NP_002065.1:p.Leu95Pro;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-17T>C:5_prime_UTR_variant|NM_002074.4:c.284T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Expressive_language_delay|Seizures|Failure_to_thrive|Feeding_difficulties|Nystagmus|Cortical_visual_impairment|Strabismus|Intellectual_disability|Global_developmental_delay|Growth_delay|Limb_hypertonia|Inability_to_walk|Multifocal_epileptiform_discharges|Muscular_hypotonia;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0000486|HP:HP:0000639|HP:HP:0001249|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0001508|HP:HP:0001510|HP:HP:0002474|HP:HP:0002509|HP:HP:0002540|HP:HP:0010841|HP:HP:0011968|HP:HP:0100704|Human_Phenotype_Ontology:HP:0000486|Human_Phenotype_Ontology:HP:0000595|Human_Phenotype_Ontology:HP:0000639|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0001434|Human_Phenotype_Ontology:HP:0001508|Human_Phenotype_Ontology:HP:0001510|Human_Phenotype_Ontology:HP:0001512|Human_Phenotype_Ontology:HP:0001514|Human_Phenotype_Ontology:HP:0001517|Human_Phenotype_Ontology:HP:0001532|Human_Phenotype_Ontology:HP:0001535|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002474|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002509|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002540|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0007192|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008847|Human_Phenotype_Ontology:HP:0008853|Human_Phenotype_Ontology:HP:0008870|Human_Phenotype_Ontology:HP:0008878|Human_Phenotype_Ontology:HP:0008886|Human_Phenotype_Ontology:HP:0008893|Human_Phenotype_Ontology:HP:0008916|Human_Phenotype_Ontology:HP:0008926|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010841|Human_Phenotype_Ontology:HP:0011968|Human_Phenotype_Ontology:HP:0100704|MedGen:C0028738|MedGen:C0036572|MedGen:C0038379|MedGen:C0155320|MedGen:C0231246|MedGen:C0232466|MedGen:C0560046|MedGen:C1838391|MedGen:C1843367|MedGen:C1847610|MedGen:C3552463|MedGen:C4020875|MedGen:C4021219|MedGen:CN001147;DATES_ORDERED=2016-02-10
1 1737915 . T C . . START=1737915;STOP=1737915;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=422536;RCV=RCV000486531;SCV=SCV000572033;ALLELE_ID=404989;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.266A>G;HGVS_P=NP_002065.1:p.Lys89Arg;MOLECULAR_CONSEQUENCE=NM_002074.4:c.266A>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_24..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-10-24
1 1737942 . A C . . START=1737942;STOP=1737942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=391609;RCV=RCV000439050;SCV=SCV000534719;ALLELE_ID=364646;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.239T>G;HGVS_P=NP_002065.1:p.Ile80Ser;MOLECULAR_CONSEQUENCE=NM_002074.4:c.239T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_16..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-12-16
1 1737942 . A G . . START=1737942;STOP=1737942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208722;RCV=RCV000190738|RCV000208571|RCV000210259|RCV000225179|RCV000225295|RCV000418135;SCV=SCV000244179|SCV000263295|SCV000266337|SCV000282059|SCV000282060|SCV000529467;ALLELE_ID=205216;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.239T>C;HGVS_P=NP_002065.1:p.Ile80Thr;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-62T>C:5_prime_UTR_variant|NM_002074.4:c.239T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|pathogenic;PATHOGENIC=5;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=Ambry_Genetics|Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab)..CHU_de_Nantes|Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;SUBMITTERS_ORDERED=Ambry_Genetics|Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab)..CHU_de_Nantes|Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;ALL_TRAITS=Inborn_genetic_diseases|MR/ID/DD|Dermatologic_(child_onset)|Neurologic_(child_onset)|Ophthalmologic_(child_onset)|Dystonia|Hypothyroidism|Intellectual_disability|Growth_delay|Infantile_axial_hypotonia|Upper_limb_hypertonia|Cleft_palate|Expressive_language_delay|Seizures|Failure_to_thrive|Nystagmus|Strabismus|Global_developmental_delay|Developmental_regression|Limb_hypertonia|Inability_to_walk|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|Myelodysplastic_syndrome|not_provided|Not_Provided;ALL_PMIDS=22947299|23037933|23169492|23619275|23652378|23881473|24022298|24121147|24394680|25356970|25560141|25626707|25730230|27108799|20301334|21956720|25485910;ORIGIN=germline|de_novo|unknown|somatic;XREFS=MeSH:D030342|MedGen:C0950123|GeneTests:25706|Genetic_Alliance:Dystonia/2405|Human_Phenotype_Ontology:HP:0000175|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000750|Human_Phenotype_Ontology:HP:0000821|Human_Phenotype_Ontology:HP:0000851|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001332|Human_Phenotype_Ontology:HP:0001434|Human_Phenotype_Ontology:HP:0001508|Human_Phenotype_Ontology:HP:0001510|Human_Phenotype_Ontology:HP:0001512|Human_Phenotype_Ontology:HP:0001514|Human_Phenotype_Ontology:HP:0001517|Human_Phenotype_Ontology:HP:0001532|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002451|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0003222|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0008203|Human_Phenotype_Ontology:HP:0008847|Human_Phenotype_Ontology:HP:0008870|Human_Phenotype_Ontology:HP:0008886|Human_Phenotype_Ontology:HP:0008893|Human_Phenotype_Ontology:HP:0008926|Human_Phenotype_Ontology:HP:0009062|Human_Phenotype_Ontology:HP:0012758|Human_Phenotype_Ontology:HP:0012759|Human_Phenotype_Ontology:HP:0200049|MedGen:C0008925|MedGen:C0013421|MedGen:C0020676|MedGen:C0393593|MedGen:C1843367|MedGen:C1970931|MedGen:C2750951|MedGen:C3552463|MedGen:C3806604|MedGen:C4021898|MedGen:CN001379|MedGen:CN117790|MedGen:CN200780|OMIM:PS128100|Genetic_Alliance:Seizures/6489|HP:HP:0000486|HP:HP:0000639|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0001508|HP:HP:0001510|HP:HP:0002376|HP:HP:0002474|HP:HP:0002509|HP:HP:0002540|HP:HP:0010841|HP:HP:0011198|Human_Phenotype_Ontology:HP:0000486|Human_Phenotype_Ontology:HP:0000639|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0001535|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002376|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002471|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002474|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002489|Human_Phenotype_Ontology:HP:0002509|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002540|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006797|Human_Phenotype_Ontology:HP:0006828|Human_Phenotype_Ontology:HP:0006854|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007037|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007192|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007242|Human_Phenotype_Ontology:HP:0007247|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008853|Human_Phenotype_Ontology:HP:0008878|Human_Phenotype_Ontology:HP:0008916|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010841|Human_Phenotype_Ontology:HP:0010842|Human_Phenotype_Ontology:HP:0011198|MedGen:C0028738|MedGen:C0036572|MedGen:C0038379|MedGen:C0231246|MedGen:C0560046|MedGen:C1838391|MedGen:C1847610|MedGen:C1855009|MedGen:C4020875|MedGen:C4021219|MedGen:C4023476|MedGen:CN001147|MedGen:C4310774|OMIM:616973|Genetic_Alliance:Myelodysplastic+syndromes/5021|MeSH:D009190|MedGen:C0026986|OMIM:137295.0002|OMIM:137295.0014|OMIM:614286|Orphanet:52688|MedGen:CN221809;DATES_ORDERED=0000-00-00|2015-12-04|2016-02-10|2016-08-08|2016-06-28
1 1737942 . A T . . START=1737942;STOP=1737942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224715;RCV=RCV000210280|RCV000225195|RCV000225283;SCV=SCV000266336|SCV000282062|SCV000282063;ALLELE_ID=226498;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.239T>A;HGVS_P=NP_002065.1:p.Ile80Asn;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-62T>A:5_prime_UTR_variant|NM_002074.4:c.239T>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;ALL_TRAITS=Seizures|Failure_to_thrive|Feeding_difficulties|Focal_seizures_with_impairment_of_consciousness_or_awareness|Cortical_visual_impairment|Global_developmental_delay|Growth_delay|Limb_hypertonia|Infantile_muscular_hypotonia|Multifocal_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|Acute_lymphoid_leukemia;ALL_PMIDS=21956720|27108799|25485910;ORIGIN=de_novo|unknown|somatic;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0001508|HP:HP:0001510|HP:HP:0002384|HP:HP:0002509|HP:HP:0008947|HP:HP:0010841|HP:HP:0011968|HP:HP:0100704|Human_Phenotype_Ontology:HP:0000595|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0001434|Human_Phenotype_Ontology:HP:0001508|Human_Phenotype_Ontology:HP:0001510|Human_Phenotype_Ontology:HP:0001512|Human_Phenotype_Ontology:HP:0001514|Human_Phenotype_Ontology:HP:0001517|Human_Phenotype_Ontology:HP:0001532|Human_Phenotype_Ontology:HP:0001535|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002384|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002449|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002509|Human_Phenotype_Ontology:HP:0002523|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008847|Human_Phenotype_Ontology:HP:0008853|Human_Phenotype_Ontology:HP:0008870|Human_Phenotype_Ontology:HP:0008878|Human_Phenotype_Ontology:HP:0008886|Human_Phenotype_Ontology:HP:0008893|Human_Phenotype_Ontology:HP:0008916|Human_Phenotype_Ontology:HP:0008926|Human_Phenotype_Ontology:HP:0008947|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010572|Human_Phenotype_Ontology:HP:0010841|Human_Phenotype_Ontology:HP:0011968|Human_Phenotype_Ontology:HP:0100704|MedGen:C0036572|MedGen:C0149958|MedGen:C0155320|MedGen:C0231246|MedGen:C0232466|MedGen:C1838391|MedGen:C1860834|MedGen:C3552463|MedGen:C4020875|MedGen:C4021219|MedGen:CN001147|MedGen:C4310774|OMIM:616973|Gene:100310785|Genetic_Alliance:Acute+Lymphoblastic+Leukemia/188|MedGen:C0023449|OMIM:613065|Office_of_Rare_Diseases:522|Orphanet:513|SNOMED_CT:91857003;DATES_ORDERED=2016-02-10|2016-08-08
1 1737948 . T C . . START=1737948;STOP=1737948;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224714;RCV=RCV000210269|RCV000225134;SCV=SCV000266335|SCV000282064;ALLELE_ID=226499;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.233A>G;HGVS_P=NP_002065.1:p.Lys78Arg;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-68A>G:5_prime_UTR_variant|NM_002074.4:c.233A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;ALL_TRAITS=Seizures|Feeding_difficulties|Strabismus|Global_developmental_delay|Growth_delay|Infantile_muscular_hypotonia|EEG_with_generalized_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo|germline;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0000486|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0001510|HP:HP:0008947|HP:HP:0011198|HP:HP:0011968|Human_Phenotype_Ontology:HP:0000486|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0001434|Human_Phenotype_Ontology:HP:0001510|Human_Phenotype_Ontology:HP:0001512|Human_Phenotype_Ontology:HP:0001514|Human_Phenotype_Ontology:HP:0001517|Human_Phenotype_Ontology:HP:0001532|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002449|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002523|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008847|Human_Phenotype_Ontology:HP:0008870|Human_Phenotype_Ontology:HP:0008886|Human_Phenotype_Ontology:HP:0008893|Human_Phenotype_Ontology:HP:0008926|Human_Phenotype_Ontology:HP:0008947|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010572|Human_Phenotype_Ontology:HP:0010842|Human_Phenotype_Ontology:HP:0011198|Human_Phenotype_Ontology:HP:0011968|MedGen:C0036572|MedGen:C0038379|MedGen:C0232466|MedGen:C1860834|MedGen:C3552463|MedGen:C4020875|MedGen:C4023476|MedGen:CN001147|MedGen:C4310774|OMIM:616973;DATES_ORDERED=2016-02-10|2016-08-08
1 1737951 . C G . . START=1737951;STOP=1737951;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=431082;RCV=RCV000496115;SCV=SCV000574520;ALLELE_ID=424605;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.230G>C;HGVS_P=NP_002065.1:p.Gly77Ala;MOLECULAR_CONSEQUENCE=NM_002074.4:c.230G>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=KK_Women’s_and_Children’s_Hospital;SUBMITTERS_ORDERED=KK_Women’s_and_Children’s_Hospital;ALL_TRAITS=Mental_retardation..autosomal_dominant_42;ALL_PMIDS=25741868|27759915;ORIGIN=de_novo;XREFS=Human_Phenotype_Ontology:HP:0000175|Human_Phenotype_Ontology:HP:0000565|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001290|Human_Phenotype_Ontology:HP:0001332|Human_Phenotype_Ontology:HP:0006721|MedGen:C4310774|OMIM:616973;DATES_ORDERED=0000-00-00
1 1737952 . C T . . START=1737952;STOP=1737952;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224713;RCV=RCV000210256;SCV=SCV000266334;ALLELE_ID=226500;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.229G>A;HGVS_P=NP_002065.1:p.Gly77Ser;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-72G>A:5_prime_UTR_variant|NM_002074.4:c.229G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Global_developmental_delay|Muscular_hypotonia;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo;XREFS=HP:HP:0001252|HP:HP:0001263|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|MedGen:C4020875|MedGen:CN001147;DATES_ORDERED=2016-02-10
1 1737953 . A C . . START=1737953;STOP=1737953;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224712;RCV=RCV000210277;SCV=SCV000266333;ALLELE_ID=226501;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.228T>G;HGVS_P=NP_002065.1:p.Asp76Glu;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-73T>G:5_prime_UTR_variant|NM_002074.4:c.228T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Seizures|Failure_to_thrive|Focal_seizures_with_impairment_of_consciousness_or_awareness|Strabismus|Global_developmental_delay|Limb_hypertonia;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0000486|HP:HP:0001250|HP:HP:0001263|HP:HP:0001508|HP:HP:0002384|HP:HP:0002509|Human_Phenotype_Ontology:HP:0000486|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001508|Human_Phenotype_Ontology:HP:0001535|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002384|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002509|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008853|Human_Phenotype_Ontology:HP:0008878|Human_Phenotype_Ontology:HP:0008916|Human_Phenotype_Ontology:HP:0010520|MedGen:C0036572|MedGen:C0038379|MedGen:C0149958|MedGen:C0231246|MedGen:C1838391|MedGen:C4020875;DATES_ORDERED=2016-02-10
1 1737954 . T C . . START=1737954;STOP=1737954;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224711;RCV=RCV000210265|RCV000225254|RCV000225357;SCV=SCV000266332|SCV000282057|SCV000282058;ALLELE_ID=226502;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.227A>G;HGVS_P=NP_002065.1:p.Asp76Gly;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-74A>G:5_prime_UTR_variant|NM_002074.4:c.227A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;ALL_TRAITS=Intellectual_disability|Global_developmental_delay|Infantile_muscular_hypotonia|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|Acute_lymphoid_leukemia;ALL_PMIDS=21956720|27108799|25485910;ORIGIN=de_novo|unknown|somatic;XREFS=HP:HP:0001249|HP:HP:0001252|HP:HP:0001263|HP:HP:0008947|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002449|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002523|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008947|Human_Phenotype_Ontology:HP:0010572|MedGen:C1843367|MedGen:C1860834|MedGen:C4020875|MedGen:CN001147|MedGen:C4310774|OMIM:616973|Gene:100310785|Genetic_Alliance:Acute+Lymphoblastic+Leukemia/188|MedGen:C0023449|OMIM:613065|Office_of_Rare_Diseases:522|Orphanet:513|SNOMED_CT:91857003;DATES_ORDERED=2016-02-10|2016-08-08
1 1956362 . G A . . START=1956362;STOP=1956362;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=256824;RCV=RCV000245842;SCV=SCV000305551;ALLELE_ID=249668;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.69-19G>A;MOLECULAR_CONSEQUENCE=NM_000815.4:c.69-19G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 1956459 . C T . . START=1956459;STOP=1956459;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=374418;RCV=RCV000416042;SCV=SCV000493139;ALLELE_ID=361304;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.147C>T;HGVS_P=NP_000806.2:p.Ala49_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.147C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_31..2016;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2016-08-31
1 1957037 . T C . . START=1957037;STOP=1957037;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=256823;RCV=RCV000254456;SCV=SCV000305550;ALLELE_ID=249669;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.330T>C;HGVS_P=NP_000806.2:p.Gly110_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.330T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 1959075 . A C . . START=1959075;STOP=1959075;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=16212;RCV=RCV000017598;SCV=SCV000037871;ALLELE_ID=31251;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.530A>C;HGVS_P=NP_000806.2:p.Glu177Ala;MOLECULAR_CONSEQUENCE=NM_000815.4:c.530A>C:missense_variant;CLINICAL_SIGNIFICANCE=risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2004;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Generalized_epilepsy_with_febrile_seizures_plus_type_5|GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS..TYPE_5..SUSCEPTIBILITY_TO;ALL_PMIDS=15115768;ORIGIN=germline;XREFS=Genetics_Home_Reference:genetic-epilepsy-with-febrile-seizures-plus|MedGen:C3150401|OMIM:613060;DATES_ORDERED=2004-07-01
1 1959699 . G A . . START=1959699;STOP=1959699;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=16213;RCV=RCV000017599|RCV000017600|RCV000022558;SCV=SCV000037872|SCV000037873|SCV000043847;ALLELE_ID=31252;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.659G>A;HGVS_P=NP_000806.2:p.Arg220His;MOLECULAR_CONSEQUENCE=NM_000815.4:c.659G>A:missense_variant;CLINICAL_SIGNIFICANCE=risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Generalized_epilepsy_with_febrile_seizures_plus_type_5|GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS..TYPE_5..SUSCEPTIBILITY_TO|Epilepsy..juvenile_myoclonic_7|Epilepsy..idiopathic_generalized_10;ALL_PMIDS=15115768|16023832;ORIGIN=germline;XREFS=Genetics_Home_Reference:genetic-epilepsy-with-febrile-seizures-plus|MedGen:C3150401|OMIM:613060|MedGen:C2751604|OMIM:137163.0002|Genetic_Alliance:Epilepsy%2C+idiopathic+generalized+10/8327|MedGen:C2751603;DATES_ORDERED=2005-06-01
1 1959708 . C T . . START=1959708;STOP=1959708;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=218470;RCV=RCV000203171;SCV=SCV000257725;ALLELE_ID=215187;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.668C>T;HGVS_P=NP_000806.2:p.Thr223Met;MOLECULAR_CONSEQUENCE=NM_000815.4:c.668C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_14..2015;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-14
1 1960633 . G A . . START=1960633;STOP=1960633;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=235308;RCV=RCV000224860;SCV=SCV000280781;ALLELE_ID=236995;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.775G>A;HGVS_P=NP_000806.2:p.Val259Ile;MOLECULAR_CONSEQUENCE=NM_000815.4:c.775G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-02-01-06:00
1 1960674 . C T . . START=1960674;STOP=1960674;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=256825;RCV=RCV000248963;SCV=SCV000305552;ALLELE_ID=249670;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.816C>T;HGVS_P=NP_000806.2:p.Ser272_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.816C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 1961408 . C T . . START=1961408;STOP=1961408;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=256822;RCV=RCV000249647;SCV=SCV000305549;ALLELE_ID=249671;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1060-14C>T;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1060-14C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 1961470 . G A . . START=1961470;STOP=1961470;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=375540;RCV=RCV000417018;SCV=SCV000494562;ALLELE_ID=362315;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1108G>A;HGVS_P=NP_000806.2:p.Val370Ile;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1108G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_16..2016;ALL_SUBMITTERS=Neurogenetics_Laboratory_-_MEYER..AOU_Meyer;SUBMITTERS_ORDERED=Neurogenetics_Laboratory_-_MEYER..AOU_Meyer;ALL_TRAITS=Epileptic_encephalopathy;ALL_PMIDS=25741868;ORIGIN=unknown;XREFS=Human_Phenotype_Ontology:HP:0200134|MedGen:C0543888;DATES_ORDERED=2016-11-16
1 2160164 . G A . . START=2160164;STOP=2160164;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392772;RCV=RCV000441067;SCV=SCV000536096;ALLELE_ID=364806;SYMBOL=SKI;HGVS_C=NM_003036.3:c.-42G>A;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_16..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-16
1 2160178 . G T . . START=2160178;STOP=2160178;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=393061;RCV=RCV000425453;SCV=SCV000536418;ALLELE_ID=364809;SYMBOL=SKI;HGVS_C=NM_003036.3:c.-28G>T;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_17..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-17
1 2160187 . G A . . START=2160187;STOP=2160187;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386778;RCV=RCV000444804;SCV=SCV000528551;ALLELE_ID=364818;SYMBOL=SKI;HGVS_C=NM_003036.3:c.-19G>A;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_07..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-07
1 2160216 . C T . . START=2160216;STOP=2160216;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426734;RCV=RCV000490080;SCV=SCV000577262;ALLELE_ID=414765;SYMBOL=SKI;HGVS_C=NM_003036.3:c.11C>T;HGVS_P=NP_003027.1:p.Ala4Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.11C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_06..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-04-06
1 2160264 . C T . . START=2160264;STOP=2160264;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409969;RCV=RCV000457554;SCV=SCV000550372;ALLELE_ID=391048;SYMBOL=SKI;HGVS_C=NM_003036.3:c.59C>T;HGVS_P=NP_003027.1:p.Thr20Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.59C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_30..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-05-30
1 2160267 . T G . . START=2160267;STOP=2160267;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=224869;RCV=RCV000210450;SCV=SCV000266527;ALLELE_ID=226716;SYMBOL=SKI;HGVS_C=NM_003036.3:c.62T>G;HGVS_P=NP_003027.1:p.Leu21Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.62T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|23023332;ORIGIN=de_novo;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=0000-00-00
1 2160299 . C G . . START=2160299;STOP=2160299;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37259;RCV=RCV000030817;SCV=SCV000266525|SCV000053492;ALLELE_ID=45849;SYMBOL=SKI;HGVS_C=NM_003036.3:c.94C>G;HGVS_P=NP_003027.1:p.Leu32Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.94C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332|23103230|24736733;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-01|0000-00-00
1 2160304 . C G . . START=2160304;STOP=2160304;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139112;RCV=RCV000173298|RCV000226611;SCV=SCV000269831|SCV000224395|SCV000171637|SCV000605113|SCV000309367|SCV000287846;ALLELE_ID=142815;SYMBOL=SKI;HGVS_C=NM_003036.3:c.99C>G;HGVS_P=NP_003027.1:p.Gly33_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.99C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=6;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_15..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae..;ALL_TRAITS=not_specified|Not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266|25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-05-27|2015-01-13|2015-11-03|0000-00-00|2017-02-15|2017-01-25
1 2160305 . G A . . START=2160305;STOP=2160305;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37261;RCV=RCV000030819|RCV000200686;SCV=SCV000266520|SCV000053494|SCV000250672;ALLELE_ID=45851;SYMBOL=SKI;HGVS_C=NM_003036.3:c.100G>A;HGVS_P=NP_003027.1:p.Gly34Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.100G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME|not_provided|Not_Provided;ALL_PMIDS=20301454|23023332|23103230|24736733;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN221809;DATES_ORDERED=2015-02-01|0000-00-00|2014-12-11
1 2160305 . G T . . START=2160305;STOP=2160305;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37262;RCV=RCV000030820;SCV=SCV000053495|SCV000266522;ALLELE_ID=45852;SYMBOL=SKI;HGVS_C=NM_003036.3:c.100G>T;HGVS_P=NP_003027.1:p.Gly34Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.100G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_02..2012;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332|23103230;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-02|0000-00-00
1 2160306 . G A . . START=2160306;STOP=2160306;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37260;RCV=RCV000030818;SCV=SCV000266523|SCV000053493;ALLELE_ID=45850;SYMBOL=SKI;HGVS_C=NM_003036.3:c.101G>A;HGVS_P=NP_003027.1:p.Gly34Asp;MOLECULAR_CONSEQUENCE=NM_003036.3:c.101G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332|24736733;ORIGIN=de_novo|unknown;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-01|0000-00-00
1 2160306 . G T . . START=2160306;STOP=2160306;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=39783;RCV=RCV000033005;SCV=SCV000056784;ALLELE_ID=48382;SYMBOL=SKI;HGVS_C=NM_003036.3:c.101G>T;HGVS_P=NP_003027.1:p.Gly34Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.101G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23103230|24736733;ORIGIN=unknown;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-01
1 2160308 . C T . . START=2160308;STOP=2160308;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=39786;RCV=RCV000033008;SCV=SCV000266524|SCV000056787;ALLELE_ID=48385;SYMBOL=SKI;HGVS_C=NM_003036.3:c.103C>T;HGVS_P=NP_003027.1:p.Pro35Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.103C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332|23103230|24736733;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-01|0000-00-00
1 2160309 . C A . . START=2160309;STOP=2160309;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=39785;RCV=RCV000033007;SCV=SCV000056786;ALLELE_ID=48384;SYMBOL=SKI;HGVS_C=NM_003036.3:c.104C>A;HGVS_P=NP_003027.1:p.Pro35Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.104C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_02..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23103230;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-02
1 2160309 . C G . . START=2160309;STOP=2160309;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409977;RCV=RCV000475694;SCV=SCV000597058|SCV000550383;ALLELE_ID=390987;SYMBOL=SKI;HGVS_C=NM_003036.3:c.104C>G;HGVS_P=NP_003027.1:p.Pro35Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.104C>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=Invitae..|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Invitae..|Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=Shprintzen-Goldberg_syndrome|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|23023332|23103230|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-09-23|2016-09-21
1 2160310 . G A . . START=2160310;STOP=2160310;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386838;RCV=RCV000437914;SCV=SCV000528633;ALLELE_ID=364811;SYMBOL=SKI;HGVS_C=NM_003036.3:c.105G>A;HGVS_P=NP_003027.1:p.Pro35_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.105G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_22..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-22
1 2160343 . C T . . START=2160343;STOP=2160343;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213665;RCV=RCV000198300;SCV=SCV000250648;ALLELE_ID=209445;SYMBOL=SKI;HGVS_C=NM_003036.3:c.138C>T;HGVS_P=NP_003027.1:p.Ala46_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.138C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_06..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-01-06
1 2160347 . A C . . START=2160347;STOP=2160347;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432531;RCV=RCV000498045;SCV=SCV000590265;ALLELE_ID=425338;SYMBOL=SKI;HGVS_C=NM_003036.3:c.142A>C;HGVS_P=NP_003027.1:p.Lys48Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.142A>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_05..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-05
1 2160352 . G A . . START=2160352;STOP=2160352;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=385331;RCV=RCV000445172;SCV=SCV000526570;ALLELE_ID=364907;SYMBOL=SKI;HGVS_C=NM_003036.3:c.147G>A;HGVS_P=NP_003027.1:p.Lys49_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.147G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_06..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-06
1 2160390 . C G . . START=2160390;STOP=2160390;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139113;RCV=RCV000128047;SCV=SCV000269830|SCV000171638|SCV000309357|SCV000605112;ALLELE_ID=142816;SYMBOL=SKI;HGVS_C=NM_003036.3:c.185C>G;HGVS_P=NP_003027.1:p.Ala62Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.185C>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jun_05..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=GeneDx|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=not_specified|not_specified|Not_specified|NOT_SPECIFIED;ALL_PMIDS=24033266|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-05-16|2015-02-20|0000-00-00|2017-06-05
1 2160394 . G GGTGCCC . . START=2160396;STOP=2160401;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409976;RCV=RCV000467436;SCV=SCV000550382;ALLELE_ID=391069;SYMBOL=SKI;HGVS_C=NM_003036.3:c.191_196dupTGCCCG;HGVS_P=NP_003027.1:p.Pro65_Ala66insValPro;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-08-11
1 2160421 . C T . . START=2160421;STOP=2160421;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193249;RCV=RCV000204079|RCV000225703|RCV000242995;SCV=SCV000261590|SCV000224394|SCV000605120|SCV000250664|SCV000309360|SCV000319962;ALLELE_ID=190413;SYMBOL=SKI;HGVS_C=NM_003036.3:c.216C>T;HGVS_P=NP_003027.1:p.Pro72_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.216C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=4;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_05..2017;ALL_SUBMITTERS=Invitae..|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Ambry_Genetics;SUBMITTERS_ORDERED=Invitae..|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Ambry_Genetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301454|25741868|20301299|24882528|25173340;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2016-12-19|2015-06-08|2015-03-02|0000-00-00|2017-05-05|2015-08-08
1 2160444 . A AGCC . . START=2160454;STOP=2160456;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264471;RCV=RCV000250462;SCV=SCV000320439;ALLELE_ID=257939;SYMBOL=SKI;HGVS_C=NM_003036.3:c.249_251dupGCC;HGVS_P=NP_003027.1:p.Pro84_Val85insPro;MOLECULAR_CONSEQUENCE=NM_003036.3:c.249_251dupGCC:inframe_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_10..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-11-10
1 2160453 . C T . . START=2160453;STOP=2160453;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409973;RCV=RCV000461038;SCV=SCV000550378;ALLELE_ID=391061;SYMBOL=SKI;HGVS_C=NM_003036.3:c.248C>T;HGVS_P=NP_003027.1:p.Pro83Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.248C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_08..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-06-08
1 2160484 . GTCCGACCGC G . . START=2160488;STOP=2160496;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37263;RCV=RCV000030821;SCV=SCV000053496|SCV000266526;ALLELE_ID=45853;SYMBOL=SKI;HGVS_C=NM_003036.3:c.283_291delGACCGCTCC;HGVS_P=NP_003027.1:p.Asp95_Ser97del;MOLECULAR_CONSEQUENCE=NM_003036.3:c.283_291delGACCGCTCC:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_01..2012;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-01|0000-00-00
1 2160484 . GTCCGACCGCTCC G . . START=2160485;STOP=2160496;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=39784;RCV=RCV000033006;SCV=SCV000056785;ALLELE_ID=48383;SYMBOL=SKI;HGVS_C=NM_003036.3:c.280_291delTCCGACCGCTCC;HGVS_P=NP_003027.1:p.Ser94_Ser97del;MOLECULAR_CONSEQUENCE=NM_003036.3:c.280_291delTCCGACCGCTCC:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_02..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23103230;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-02
1 2160499 . C T . . START=2160499;STOP=2160499;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213681;RCV=RCV000198732|RCV000254475|RCV000467477;SCV=SCV000309361|SCV000319836|SCV000560924;ALLELE_ID=209446;SYMBOL=SKI;HGVS_C=NM_003036.3:c.294C>T;HGVS_P=NP_003027.1:p.Thr98_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.294C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_20..2017;ALL_SUBMITTERS=PreventionGenetics|Ambry_Genetics|Invitae..;SUBMITTERS_ORDERED=PreventionGenetics|Ambry_Genetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301299|24882528|25173340|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=0000-00-00|2015-08-11|2017-01-20
1 2160516 . T C . . START=2160516;STOP=2160516;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264417;RCV=RCV000246817;SCV=SCV000320341;ALLELE_ID=257941;SYMBOL=SKI;HGVS_C=NM_003036.3:c.311T>C;HGVS_P=NP_003027.1:p.Val104Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.311T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_17..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-09-17
1 2160517 . A T . . START=2160517;STOP=2160517;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227947;RCV=RCV000215560;SCV=SCV000531770|SCV000270847;ALLELE_ID=228355;SYMBOL=SKI;HGVS_C=NM_003036.3:c.312A>T;HGVS_P=NP_003027.1:p.Val104_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.312A>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_21..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-08-11|2016-09-21
1 2160547 . G T . . START=2160547;STOP=2160547;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390742;RCV=RCV000418308;SCV=SCV000533655;ALLELE_ID=364910;SYMBOL=SKI;HGVS_C=NM_003036.3:c.342G>T;HGVS_P=NP_003027.1:p.Val114_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.342G>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_16..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-16
1 2160552 . G A . . START=2160552;STOP=2160552;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37258;RCV=RCV000030816;SCV=SCV000266519|SCV000053491;ALLELE_ID=45848;SYMBOL=SKI;HGVS_C=NM_003036.3:c.347G>A;HGVS_P=NP_003027.1:p.Gly116Glu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.347G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_01..2012;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-01|0000-00-00
1 2160554 . G C . . START=2160554;STOP=2160554;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=224868;RCV=RCV000210472|RCV000498943;SCV=SCV000266521|SCV000589671;ALLELE_ID=226717;SYMBOL=SKI;HGVS_C=NM_003036.3:c.349G>C;HGVS_P=NP_003027.1:p.Gly117Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.349G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_02..2017;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;SUBMITTERS_ORDERED=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_provided|Not_Provided;ALL_PMIDS=20301454|23023332;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN221809;DATES_ORDERED=0000-00-00|2017-06-02
1 2160557 . G A . . START=2160557;STOP=2160557;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=222819;RCV=RCV000208203;SCV=SCV000264224;ALLELE_ID=224190;SYMBOL=SKI;HGVS_C=NM_003036.3:c.352G>A;HGVS_P=NP_003027.1:p.Glu118Lys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.352G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_22..2015;ALL_SUBMITTERS=Blueprint_Genetics;SUBMITTERS_ORDERED=Blueprint_Genetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-10-22
1 2160565 . C T . . START=2160565;STOP=2160565;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213682;RCV=RCV000200253|RCV000461600;SCV=SCV000250666|SCV000605119|SCV000560926;ALLELE_ID=209448;SYMBOL=SKI;HGVS_C=NM_003036.3:c.360C>T;HGVS_P=NP_003027.1:p.Arg120_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.360C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_16..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-05-06|2017-03-16|2016-12-08
1 2160598 . G A . . START=2160598;STOP=2160598;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264423;RCV=RCV000254423;SCV=SCV000320354;ALLELE_ID=257943;SYMBOL=SKI;HGVS_C=NM_003036.3:c.393G>A;HGVS_P=NP_003027.1:p.Leu131_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.393G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_04..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-10-04
1 2160622 . C T . . START=2160622;STOP=2160622;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213683;RCV=RCV000196335|RCV000234780;SCV=SCV000250667|SCV000309362|SCV000287840;ALLELE_ID=209449;SYMBOL=SKI;HGVS_C=NM_003036.3:c.417C>T;HGVS_P=NP_003027.1:p.Ile139_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.417C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-12-02|0000-00-00|2016-10-08
1 2160640 . G GCTC . . START=2160641;STOP=2160642;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=440270;RCV=RCV000506250;SCV=SCV000605118;ALLELE_ID=433916;SYMBOL=SKI;HGVS_C=NM_003036.3:c.436_437insCTC;HGVS_P=NP_003027.1:p.Glu145_Leu146insPro;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_15..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics;SUBMITTERS_ORDERED=ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-15
1 2160661 . C T . . START=2160661;STOP=2160661;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139111;RCV=RCV000128045|RCV000228536|RCV000245385;SCV=SCV000171636|SCV000309363|SCV000287841|SCV000319402;ALLELE_ID=142814;SYMBOL=SKI;HGVS_C=NM_003036.3:c.456C>T;HGVS_P=NP_003027.1:p.Arg152_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.456C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae..|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae..|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|20301454|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-19|0000-00-00|2017-01-25|2015-02-05
1 2160669 . C G . . START=2160669;STOP=2160669;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373594;RCV=RCV000413541|RCV000461900;SCV=SCV000492202|SCV000550384;ALLELE_ID=359313;SYMBOL=SKI;HGVS_C=NM_003036.3:c.464C>G;HGVS_P=NP_003027.1:p.Ala155Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.464C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-29|2016-05-22
1 2160676 . G A . . START=2160676;STOP=2160676;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239478;RCV=RCV000232451|RCV000247169;SCV=SCV000287842|SCV000309364;ALLELE_ID=238211;SYMBOL=SKI;HGVS_C=NM_003036.3:c.471G>A;HGVS_P=NP_003027.1:p.Gln157_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.471G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_27..2016;ALL_SUBMITTERS=Invitae..|PreventionGenetics;SUBMITTERS_ORDERED=Invitae..|PreventionGenetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_specified|NOT_SPECIFIED;ALL_PMIDS=20301454|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN169374;DATES_ORDERED=2016-03-27|0000-00-00
1 2160692 . G A . . START=2160692;STOP=2160692;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239479;RCV=RCV000234052;SCV=SCV000287843;ALLELE_ID=238212;SYMBOL=SKI;HGVS_C=NM_003036.3:c.487G>A;HGVS_P=NP_003027.1:p.Val163Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.487G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_12..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-01-12
1 2160700 . C T . . START=2160700;STOP=2160700;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=258901;RCV=RCV000250311;SCV=SCV000309365;ALLELE_ID=249732;SYMBOL=SKI;HGVS_C=NM_003036.3:c.495C>T;HGVS_P=NP_003027.1:p.Gly165_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.495C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 2160704 . CT GG . . START=2160704;STOP=2160705;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213703;RCV=RCV000200337;SCV=SCV000250689;ALLELE_ID=209450;SYMBOL=SKI;HGVS_C=NM_003036.3:c.499_500delCTinsGG;HGVS_P=NP_003027.1:p.Leu167Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.499_500delCTinsGG:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-08-08
1 2160744 . C T . . START=2160744;STOP=2160744;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213684;RCV=RCV000198523;SCV=SCV000250668;ALLELE_ID=209451;SYMBOL=SKI;HGVS_C=NM_003036.3:c.539C>T;HGVS_P=NP_003027.1:p.Thr180Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.539C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_07..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-07
1 2160830 . C A . . START=2160830;STOP=2160830;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264172;RCV=RCV000242214;SCV=SCV000319905;ALLELE_ID=257942;SYMBOL=SKI;HGVS_C=NM_003036.3:c.625C>A;HGVS_P=NP_003027.1:p.Leu209Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.625C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_24..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-07-24
1 2160845 . A G . . START=2160845;STOP=2160845;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213685;RCV=RCV000200824;SCV=SCV000250669;ALLELE_ID=209452;SYMBOL=SKI;HGVS_C=NM_003036.3:c.640A>G;HGVS_P=NP_003027.1:p.Ser214Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.640A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-21
1 2160907 . C G . . START=2160907;STOP=2160907;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=388701;RCV=RCV000441081;SCV=SCV000531061;ALLELE_ID=364813;SYMBOL=SKI;HGVS_C=NM_003036.3:c.702C>G;HGVS_P=NP_003027.1:p.Pro234_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.702C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_17..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-17
1 2160931 . C T . . START=2160931;STOP=2160931;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=381375;RCV=RCV000438601;SCV=SCV000520593;ALLELE_ID=364674;SYMBOL=SKI;HGVS_C=NM_003036.3:c.726C>T;HGVS_P=NP_003027.1:p.Ala242_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.726C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_05..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-11-05
1 2160941 . C T . . START=2160941;STOP=2160941;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=424243;RCV=RCV000484316;SCV=SCV000574033;ALLELE_ID=405059;SYMBOL=SKI;HGVS_C=NM_003036.3:c.736C>T;HGVS_P=NP_003027.1:p.Gln246Ter;MOLECULAR_CONSEQUENCE=NM_003036.3:c.736C>T:nonsense;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_13..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-13
1 2160973 . G A . . START=2160973;STOP=2160973;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=381998;RCV=RCV000435128;SCV=SCV000521746;ALLELE_ID=364823;SYMBOL=SKI;HGVS_C=NM_003036.3:c.768G>A;HGVS_P=NP_003027.1:p.Pro256_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.768G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_02..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-02
1 2161003 . C T . . START=2161003;STOP=2161003;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193248;RCV=RCV000225717|RCV000243648|RCV000465929;SCV=SCV000250645|SCV000309366|SCV000224393|SCV000319450|SCV000560938;ALLELE_ID=190412;SYMBOL=SKI;HGVS_C=NM_003036.3:c.798C>T;HGVS_P=NP_003027.1:p.Ala266_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.798C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=2;BENIGN=2;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_13..2016;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Ambry_Genetics|Invitae..;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|PreventionGenetics|Ambry_Genetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301299|24882528|25173340|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-12-19|2014-09-04|0000-00-00|2015-03-06|2016-06-13
1 2161004 . C T . . START=2161004;STOP=2161004;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213663;RCV=RCV000200723|RCV000228953;SCV=SCV000250646|SCV000287844;ALLELE_ID=209453;SYMBOL=SKI;HGVS_C=NM_003036.3:c.799C>T;HGVS_P=NP_003027.1:p.Leu267_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.799C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_26..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-05-18|2016-09-26
1 2161049 . C A . . START=2161049;STOP=2161049;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264492;RCV=RCV000251439;SCV=SCV000320468;ALLELE_ID=257944;SYMBOL=SKI;HGVS_C=NM_003036.3:c.844C>A;HGVS_P=NP_003027.1:p.Arg282_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.844C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_06..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-11-06
1 2161050 . G A . . START=2161050;STOP=2161050;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=393089;RCV=RCV000421845;SCV=SCV000536449;ALLELE_ID=364679;SYMBOL=SKI;HGVS_C=NM_003036.3:c.845G>A;HGVS_P=NP_003027.1:p.Arg282Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.845G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_20..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-20
1 2161098 . C G . . START=2161098;STOP=2161098;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=436729;RCV=RCV000502689;SCV=SCV000597059;ALLELE_ID=427715;SYMBOL=SKI;HGVS_C=NM_003036.3:c.893C>G;HGVS_P=NP_003027.1:p.Ala298Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.893C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_24..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-24
1 2161102 . C T . . START=2161102;STOP=2161102;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=380753;RCV=RCV000417582|RCV000458602;SCV=SCV000519151|SCV000560931;ALLELE_ID=364819;SYMBOL=SKI;HGVS_C=NM_003036.3:c.897C>T;HGVS_P=NP_003027.1:p.Arg299_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.897C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_14..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-12-14|2016-04-18
1 2161111 . C T . . START=2161111;STOP=2161111;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=389154;RCV=RCV000442843;SCV=SCV000531605;ALLELE_ID=364915;SYMBOL=SKI;HGVS_C=NM_003036.3:c.906C>T;HGVS_P=NP_003027.1:p.Arg302_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.906C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_07..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-07
1 2161124 . G A . . START=2161124;STOP=2161124;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213686;RCV=RCV000196881;SCV=SCV000250670;ALLELE_ID=209454;SYMBOL=SKI;HGVS_C=NM_003036.3:c.919G>A;HGVS_P=NP_003027.1:p.Val307Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.919G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_17..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-17
1 2161143 . A G . . START=2161143;STOP=2161143;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213687;RCV=RCV000199076;SCV=SCV000250671;ALLELE_ID=209455;SYMBOL=SKI;HGVS_C=NM_003036.3:c.938A>G;HGVS_P=NP_003027.1:p.Tyr313Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.938A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_02..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-02
1 2161153 . G A . . START=2161153;STOP=2161153;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213664;RCV=RCV000196098|RCV000231718;SCV=SCV000250647|SCV000287845;ALLELE_ID=209456;SYMBOL=SKI;HGVS_C=NM_003036.3:c.948G>A;HGVS_P=NP_003027.1:p.Lys316_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.948G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_01..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-08-02|2016-07-01
1 2161169 . C T . . START=2161169;STOP=2161169;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264199;RCV=RCV000252076;SCV=SCV000319953;ALLELE_ID=257945;SYMBOL=SKI;HGVS_C=NM_003036.3:c.964C>T;HGVS_P=NP_003027.1:p.Pro322Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.964C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_14..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-08-14
1 2234410 . A G . . START=2234410;STOP=2234410;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=289941;RCV=RCV000284270;SCV=SCV000344401|SCV000531468;ALLELE_ID=274178;SYMBOL=SKI;HGVS_C=NM_003036.3:c.970-7A>G;MOLECULAR_CONSEQUENCE=NM_003036.3:c.970-7A>G:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_02..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-26|2016-09-02
1 2234447 . C T . . START=2234447;STOP=2234447;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213688;RCV=RCV000198950;SCV=SCV000250674;ALLELE_ID=209457;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1000C>T;HGVS_P=NP_003027.1:p.Pro334Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1000C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_29..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-05-29
1 2234452 . A G . . START=2234452;STOP=2234452;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392801;RCV=RCV000420643;SCV=SCV000536128;ALLELE_ID=364935;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1005A>G;HGVS_P=NP_003027.1:p.Lys335_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1005A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_17..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-17
1 2234480 . G A . . START=2234480;STOP=2234480;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213666;RCV=RCV000200606|RCV000474882;SCV=SCV000250649|SCV000550374;ALLELE_ID=209458;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1033G>A;HGVS_P=NP_003027.1:p.Ala345Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1033G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_28..2017;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-28|2016-11-18
1 2234484 . CT C . . START=2234486;STOP=2234486;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432707;RCV=RCV000498739;SCV=SCV000590461;ALLELE_ID=425341;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1039delT;HGVS_P=NP_003027.1:p.Ser347Profs;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1039delT:frameshift_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_12..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-12
1 2234488 . C T . . START=2234488;STOP=2234488;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=384269;RCV=RCV000417667;SCV=SCV000524999;ALLELE_ID=364878;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1041C>T;HGVS_P=NP_003027.1:p.Ser347_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1041C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_26..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-02-26
1 2234515 . G A . . START=2234515;STOP=2234515;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=389348;RCV=RCV000436780;SCV=SCV000531839;ALLELE_ID=364937;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1068G>A;HGVS_P=NP_003027.1:p.Leu356_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1068G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_13..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-13
1 2234517 . G A . . START=2234517;STOP=2234517;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213689;RCV=RCV000195711;SCV=SCV000250675;ALLELE_ID=209459;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1070G>A;HGVS_P=NP_003027.1:p.Arg357Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1070G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-24
1 2234528 . G A . . START=2234528;STOP=2234528;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=222820;RCV=RCV000208423;SCV=SCV000264225;ALLELE_ID=224191;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1081G>A;HGVS_P=NP_003027.1:p.Gly361Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1081G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_01..2015;ALL_SUBMITTERS=Blueprint_Genetics;SUBMITTERS_ORDERED=Blueprint_Genetics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-01
1 2234718 . C T . . START=2234718;STOP=2234718;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390923;RCV=RCV000443858;SCV=SCV000533875;ALLELE_ID=364886;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1096-6C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1096-6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_28..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-28
1 2234745 . C T . . START=2234745;STOP=2234745;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409970;RCV=RCV000465525;SCV=SCV000550373;ALLELE_ID=391067;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1117C>T;HGVS_P=NP_003027.1:p.Arg373Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1117C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_16..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-10-16
1 2234752 . G A . . START=2234752;STOP=2234752;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=444150;RCV=RCV000513628;SCV=SCV000608451;ALLELE_ID=437790;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1124G>A;HGVS_P=NP_003027.1:p.Arg375His;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1124G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_30..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-06-30
1 2234767 . G A . . START=2234767;STOP=2234767;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213690;RCV=RCV000197996;SCV=SCV000250676;ALLELE_ID=209461;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1139G>A;HGVS_P=NP_003027.1:p.Arg380Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1139G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_16..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-06-16
1 2234790 . G A . . START=2234790;STOP=2234790;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213667;RCV=RCV000197343;SCV=SCV000250650;ALLELE_ID=209462;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1162G>A;HGVS_P=NP_003027.1:p.Ala388Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1162G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_29..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-29
1 2234791 . C T . . START=2234791;STOP=2234791;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213668;RCV=RCV000198871|RCV000204037|RCV000436746;SCV=SCV000605116|SCV000250651|SCV000309348|SCV000261993|SCV000511006;ALLELE_ID=209463;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1163C>T;HGVS_P=NP_003027.1:p.Ala388Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1163C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_26..2017;ALL_SUBMITTERS=PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|GeneDx|Invitae..|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae..|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|not_provided;ALL_PMIDS=25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN221809;DATES_ORDERED=2016-08-19|0000-00-00|2016-05-08|2016-12-29|2017-01-26-06:00
1 2234792 . G A . . START=2234792;STOP=2234792;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415896;RCV=RCV000463122;SCV=SCV000560929;ALLELE_ID=391070;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1164G>A;HGVS_P=NP_003027.1:p.Ala388_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1164G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_13..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-06-13
1 2234811 . C T . . START=2234811;STOP=2234811;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213691;RCV=RCV000198841;SCV=SCV000250677;ALLELE_ID=209464;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1183C>T;HGVS_P=NP_003027.1:p.Pro395Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1183C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_02..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-02
1 2234816 . C T . . START=2234816;STOP=2234816;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392508;RCV=RCV000422024;SCV=SCV000535788;ALLELE_ID=364903;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1188C>T;HGVS_P=NP_003027.1:p.His396_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1188C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_11..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-11
1 2234824 . C T . . START=2234824;STOP=2234824;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213692;RCV=RCV000195594|RCV000227742;SCV=SCV000309349|SCV000250678|SCV000287832;ALLELE_ID=209465;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1196C>T;HGVS_P=NP_003027.1:p.Ala399Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1196C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_04..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-08-24|0000-00-00|2016-05-05
1 2234825 . C A . . START=2234825;STOP=2234825;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386213;RCV=RCV000438909;SCV=SCV000527766;ALLELE_ID=364718;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1197C>A;HGVS_P=NP_003027.1:p.Ala399_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1197C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_18..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-05-18
1 2234833 . G A . . START=2234833;STOP=2234833;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409972;RCV=RCV000466620;SCV=SCV000550376;ALLELE_ID=390988;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1205G>A;HGVS_P=NP_003027.1:p.Arg402Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1205G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_03..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-08-03
1 2234849 . C T . . START=2234849;STOP=2234849;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213669;RCV=RCV000200400|RCV000470601;SCV=SCV000250652|SCV000560930;ALLELE_ID=209466;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1211+10C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1211+10C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_05..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-04|2016-09-05
1 2234850 . G A . . START=2234850;STOP=2234850;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213670;RCV=RCV000197227;SCV=SCV000250653;ALLELE_ID=209467;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1211+11G>A;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1211+11G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_08..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-08-08
1 2234856 . C T . . START=2234856;STOP=2234856;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=258899;RCV=RCV000248676;SCV=SCV000309350;ALLELE_ID=249763;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1211+17C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1211+17C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00
1 2234858 . C T . . START=2234858;STOP=2234858;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=258900;RCV=RCV000251824;SCV=SCV000309351|SCV000514629;ALLELE_ID=249764;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1211+19C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1211+19C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Dec_06..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-12-06
1 2235271 . C T . . START=2235271;STOP=2235271;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213671;RCV=RCV000199440|RCV000415889;SCV=SCV000309352|SCV000250654|SCV000493144;ALLELE_ID=209468;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1212-8C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1212-8C>T:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_31..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2015-04-15|0000-00-00|2016-08-31
1 2235310 . G A . . START=2235310;STOP=2235310;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=222821;RCV=RCV000208100;SCV=SCV000264226;ALLELE_ID=224192;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1243G>A;HGVS_P=NP_003027.1:p.Val415Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1243G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_01..2015;ALL_SUBMITTERS=Blueprint_Genetics;SUBMITTERS_ORDERED=Blueprint_Genetics;ALL_TRAITS=Marfanoid_habitus;ORIGIN=germline;XREFS=MedGen:C1839796;DATES_ORDERED=2015-04-01
1 2235314 . C T . . START=2235314;STOP=2235314;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213693;RCV=RCV000197794;SCV=SCV000250679;ALLELE_ID=209469;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1247C>T;HGVS_P=NP_003027.1:p.Ala416Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1247C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_02..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-02
1 2235321 . C T . . START=2235321;STOP=2235321;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392009;RCV=RCV000441456;SCV=SCV000535200;ALLELE_ID=364908;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1254C>T;HGVS_P=NP_003027.1:p.Asn418_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1254C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-21
1 2235325 . G A . . START=2235325;STOP=2235325;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=220793;RCV=RCV000205977|RCV000507645;SCV=SCV000261638|SCV000605111;ALLELE_ID=221089;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1258G>A;HGVS_P=NP_003027.1:p.Ala420Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1258G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_13..2016;ALL_SUBMITTERS=Invitae..|ARUP_Laboratories..Molecular_Genetics_and_Genomics;SUBMITTERS_ORDERED=Invitae..|ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_specified;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN169374;DATES_ORDERED=2015-10-28|2016-09-13
1 2235330 . C T . . START=2235330;STOP=2235330;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263904;RCV=RCV000252813;SCV=SCV000319412;ALLELE_ID=257947;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1263C>T;HGVS_P=NP_003027.1:p.Leu421_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1263C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-02-04
1 2235331 . G A . . START=2235331;STOP=2235331;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213707;RCV=RCV000196970;SCV=SCV000250693;ALLELE_ID=209470;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1264G>A;HGVS_P=NP_003027.1:p.Ala422Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1264G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_20..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-10-20
1 2235336 . G A . . START=2235336;STOP=2235336;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387432;RCV=RCV000431107;SCV=SCV000529477;ALLELE_ID=364724;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1269G>A;HGVS_P=NP_003027.1:p.Pro423_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1269G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_12..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-12
1 2235338 . C T . . START=2235338;STOP=2235338;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423663;RCV=RCV000486959;SCV=SCV000573384;ALLELE_ID=405082;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1271C>T;HGVS_P=NP_003027.1:p.Pro424Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1271C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_23..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-23
1 2235368 . C T . . START=2235368;STOP=2235368;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213694;RCV=RCV000200090;SCV=SCV000250680;ALLELE_ID=209471;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1301C>T;HGVS_P=NP_003027.1:p.Pro434Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1301C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_09..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-09
1 2235376 . G A . . START=2235376;STOP=2235376;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263895;RCV=RCV000251995|RCV000474123;SCV=SCV000319389|SCV000550377;ALLELE_ID=257946;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1309G>A;HGVS_P=NP_003027.1:p.Ala437Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1309G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_11..2016;ALL_SUBMITTERS=Ambry_Genetics|Invitae..;SUBMITTERS_ORDERED=Ambry_Genetics|Invitae..;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301299|24882528|25173340|20301454;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-10-29|2016-12-11
1 2235378 . C G . . START=2235378;STOP=2235378;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227946;RCV=RCV000221218|RCV000462719;SCV=SCV000514630|SCV000270846|SCV000560932;ALLELE_ID=228357;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1311C>G;HGVS_P=NP_003027.1:p.Ala437_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1311C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_09..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-08-11|2016-09-21|2016-10-09
1 2235378 . C T . . START=2235378;STOP=2235378;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139114;RCV=RCV000128048|RCV000229389|RCV000249261;SCV=SCV000309353|SCV000605110|SCV000171639|SCV000336133|SCV000287833|SCV000319411;ALLELE_ID=142817;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1311C>T;HGVS_P=NP_003027.1:p.Ala437_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1311C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=6;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_10..2017;ALL_SUBMITTERS=PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae..|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae..|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|20301454|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-27|0000-00-00|2015-10-14|2016-01-06|2017-01-10|2015-02-06
1 2235382 . G A . . START=2235382;STOP=2235382;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409971;RCV=RCV000457275;SCV=SCV000550375;ALLELE_ID=391083;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1315G>A;HGVS_P=NP_003027.1:p.Val439Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1315G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-10-08
1 2235396 . C T . . START=2235396;STOP=2235396;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=385791;RCV=RCV000429448;SCV=SCV000527181;ALLELE_ID=364938;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1329C>T;HGVS_P=NP_003027.1:p.Pro443_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1329C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_29..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-29
1 2235405 . C T . . START=2235405;STOP=2235405;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213672;RCV=RCV000195511;SCV=SCV000250655;ALLELE_ID=209472;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1338C>T;HGVS_P=NP_003027.1:p.Leu446_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1338C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_18..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-06-18
1 2235451 . C G . . START=2235451;STOP=2235451;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409974;RCV=RCV000467693;SCV=SCV000550379;ALLELE_ID=390989;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1384C>G;HGVS_P=NP_003027.1:p.Pro462Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1384C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_01..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-04-01
1 2235477 . C T . . START=2235477;STOP=2235477;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213673;RCV=RCV000197717|RCV000458443;SCV=SCV000250656|SCV000560937;ALLELE_ID=209473;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1410C>T;HGVS_P=NP_003027.1:p.Pro470_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1410C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_13..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-06-22|2016-11-13
1 2235487 . C G . . START=2235487;STOP=2235487;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373583;RCV=RCV000413715;SCV=SCV000492188;ALLELE_ID=359238;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1420C>G;HGVS_P=NP_003027.1:p.Pro474Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1420C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_06..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-06
1 2235513 . G A . . START=2235513;STOP=2235513;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139115;RCV=RCV000178187|RCV000233299|RCV000249175;SCV=SCV000171640|SCV000605115|SCV000309354|SCV000230202|SCV000287834|SCV000319431;ALLELE_ID=142818;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1446G>A;HGVS_P=NP_003027.1:p.Ala482_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1446G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=5;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae..|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae..|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|20301454|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-29|2015-01-13|0000-00-00|2016-01-08|2017-01-25|2015-02-16
1 2235523 . G A . . START=2235523;STOP=2235523;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229252;RCV=RCV000218491;SCV=SCV000272435;ALLELE_ID=228358;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1456G>A;HGVS_P=NP_003027.1:p.Val486Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1456G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-08-11
1 2235737 . T A . . START=2235737;STOP=2235737;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373745;RCV=RCV000414146|RCV000460773;SCV=SCV000492366|SCV000550381;ALLELE_ID=359326;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1480T>A;HGVS_P=NP_003027.1:p.Ser494Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1480T>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_12..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-12-12|2016-08-18
1 2235762 . C T . . START=2235762;STOP=2235762;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=377202;RCV=RCV000442707;SCV=SCV000511479;ALLELE_ID=364080;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1505C>T;HGVS_P=NP_003027.1:p.Pro502Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1505C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-11-21-06:00
1 2235784 . C T . . START=2235784;STOP=2235784;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213674;RCV=RCV000199331|RCV000245139;SCV=SCV000605117|SCV000250657|SCV000269828|SCV000319439;ALLELE_ID=209474;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1527C>T;HGVS_P=NP_003027.1:p.Ser509_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1527C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_19..2016;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Ambry_Genetics;ALL_TRAITS=not_specified|Not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=24033266|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-09-11|2015-02-20|2016-12-19|2015-02-24
1 2235785 . G A . . START=2235785;STOP=2235785;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213695;RCV=RCV000195482;SCV=SCV000250681;ALLELE_ID=209475;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1528G>A;HGVS_P=NP_003027.1:p.Ala510Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1528G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_26..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-26
1 2235812 . C T . . START=2235812;STOP=2235812;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213696;RCV=RCV000197672;SCV=SCV000250682;ALLELE_ID=209476;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1555C>T;HGVS_P=NP_003027.1:p.Arg519Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1555C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_11..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-09-11
1 2235813 . G A . . START=2235813;STOP=2235813;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213675;RCV=RCV000196080;SCV=SCV000250658;ALLELE_ID=209477;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1556G>A;HGVS_P=NP_003027.1:p.Arg519His;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1556G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_04..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-12-04
1 2235825 . C T . . START=2235825;STOP=2235825;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=180522;RCV=RCV000157499;SCV=SCV000207244;ALLELE_ID=178441;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1568C>T;HGVS_P=NP_003027.1:p.Ser523Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1568C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_06..2014;ALL_SUBMITTERS=Blueprint_Genetics;SUBMITTERS_ORDERED=Blueprint_Genetics;ALL_TRAITS=Arterial_dissection|Arterial_dissection;ORIGIN=germline;XREFS=Human_Phenotype_Ontology:HP:0005294|MedGen:C0002949|MedGen:CN004695;DATES_ORDERED=2014-10-06
1 2235830 . G A . . START=2235830;STOP=2235830;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213676;RCV=RCV000197599;SCV=SCV000250659;ALLELE_ID=209478;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1573G>A;HGVS_P=NP_003027.1:p.Val525Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1573G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_17..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-17
1 2235837 . ATGC A . . START=2235841;STOP=2235843;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213704;RCV=RCV000197075;SCV=SCV000250690;ALLELE_ID=209479;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1584_1586delTGC;HGVS_P=NP_003027.1:p.Ala530del;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1584_1586delTGC:inframe_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_05..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-05
1 2235850 . T C . . START=2235850;STOP=2235850;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213677;RCV=RCV000199803|RCV000466338;SCV=SCV000309355|SCV000250660|SCV000560935;ALLELE_ID=209480;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1593T>C;HGVS_P=NP_003027.1:p.Pro531_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1593T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_08..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-07-01|0000-00-00|2016-12-08
1 2235876 . C T . . START=2235876;STOP=2235876;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213697;RCV=RCV000199881;SCV=SCV000250683;ALLELE_ID=209481;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1619C>T;HGVS_P=NP_003027.1:p.Ala540Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1619C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_22..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-22
1 2235877 . G A . . START=2235877;STOP=2235877;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415898;RCV=RCV000456827;SCV=SCV000560934;ALLELE_ID=390993;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1620G>A;HGVS_P=NP_003027.1:p.Ala540_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1620G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-10-26
1 2235889 . C T . . START=2235889;STOP=2235889;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213678;RCV=RCV000196639;SCV=SCV000250661;ALLELE_ID=209482;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1632C>T;HGVS_P=NP_003027.1:p.His544_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1632C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_31..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-07-31
1 2235957 . T C . . START=2235957;STOP=2235957;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426770;RCV=RCV000489520;SCV=SCV000577301;ALLELE_ID=414774;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1700T>C;HGVS_P=NP_003027.1:p.Val567Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1700T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_05..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-04-05
1 2235991 . C T . . START=2235991;STOP=2235991;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415897;RCV=RCV000472195;SCV=SCV000560933;ALLELE_ID=391073;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1734C>T;HGVS_P=NP_003027.1:p.Ser578_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1734C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_15..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-05-15
1 2235996 . C T . . START=2235996;STOP=2235996;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432018;RCV=RCV000498763;SCV=SCV000589685;ALLELE_ID=425342;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1739C>T;HGVS_P=NP_003027.1:p.Ala580Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1739C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_16..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-16
1 2236030 . C T . . START=2236030;STOP=2236030;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239476;RCV=RCV000227068;SCV=SCV000287835;ALLELE_ID=238217;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1767+6C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1767+6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_21..2015;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-12-21
1 2237477 . G T . . START=2237477;STOP=2237477;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=393207;RCV=RCV000442849;SCV=SCV000536583;ALLELE_ID=364914;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1786G>T;HGVS_P=NP_003027.1:p.Val596Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1786G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_03..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-03
1 2237525 . C T . . START=2237525;STOP=2237525;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139116;RCV=RCV000179418|RCV000230962|RCV000243796;SCV=SCV000171641|SCV000309356|SCV000269829|SCV000231664|SCV000287836|SCV000319390;ALLELE_ID=142819;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1834C>T;HGVS_P=NP_003027.1:p.Leu612_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1834C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=5;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_15..2017;ALL_SUBMITTERS=PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae..|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics|Invitae..|Ambry_Genetics;ALL_TRAITS=not_specified|Not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=24033266|25741868|20301454|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-29|2015-06-08|2015-02-20|0000-00-00|2017-01-15|2015-03-04
1 2237542 . G A . . START=2237542;STOP=2237542;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=198156;RCV=RCV000179419|RCV000473994;SCV=SCV000231665|SCV000560922;ALLELE_ID=195317;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1851G>A;HGVS_P=NP_003027.1:p.Glu617_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1851G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Invitae..;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-04-02|2016-10-08
1 2237551 . C T . . START=2237551;STOP=2237551;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415894;RCV=RCV000468377;SCV=SCV000560927;ALLELE_ID=390971;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1860C>T;HGVS_P=NP_003027.1:p.Arg620_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1860C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-24
1 2237554 . C T . . START=2237554;STOP=2237554;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=384451;RCV=RCV000430401;SCV=SCV000525272;ALLELE_ID=364920;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1863C>T;HGVS_P=NP_003027.1:p.Ala621_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1863C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-01
1 2237561 . GAGA G . . START=2237568;STOP=2237570;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213705;RCV=RCV000198612;SCV=SCV000250691;ALLELE_ID=209485;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1877_1879delAGA;HGVS_P=NP_003027.1:p.Lys626del;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1877_1879delAGA:inframe_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_06..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-06
1 2237568 . A T . . START=2237568;STOP=2237568;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213698;RCV=RCV000196715;SCV=SCV000250684;ALLELE_ID=209484;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1877A>T;HGVS_P=NP_003027.1:p.Lys626Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1877A>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-21
1 2237578 . G A . . START=2237578;STOP=2237578;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415893;RCV=RCV000476076;SCV=SCV000560925;ALLELE_ID=391086;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1887G>A;HGVS_P=NP_003027.1:p.Glu629_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1887G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_09..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-09-09
1 2237581 . C T . . START=2237581;STOP=2237581;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=198155;RCV=RCV000246302;SCV=SCV000231662|SCV000309358;ALLELE_ID=195316;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1890C>T;HGVS_P=NP_003027.1:p.Ala630_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1890C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Nov_12..2014;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-12|0000-00-00
1 2237623 . G A . . START=2237623;STOP=2237623;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=383505;RCV=RCV000419527;SCV=SCV000523917;ALLELE_ID=364733;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1932G>A;HGVS_P=NP_003027.1:p.Ala644_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1932G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_09..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-02-09
1 2237662 . C T . . START=2237662;STOP=2237662;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239477;RCV=RCV000233767;SCV=SCV000287837;ALLELE_ID=238218;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1971C>T;HGVS_P=NP_003027.1:p.Gly657_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1971C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_25..2015;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-12-25
1 2237665 . C T . . START=2237665;STOP=2237665;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139117;RCV=RCV000179417|RCV000227524;SCV=SCV000231663|SCV000309359|SCV000171642|SCV000287838;ALLELE_ID=142820;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1974C>T;HGVS_P=NP_003027.1:p.Arg658_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1974C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-06-05|2014-10-07|0000-00-00|2017-01-18
1 2237674 . C T . . START=2237674;STOP=2237674;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415895;RCV=RCV000475416;SCV=SCV000560928;ALLELE_ID=390995;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1983C>T;HGVS_P=NP_003027.1:p.Ala661_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1983C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_08..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-08
1 2238000 . C T . . START=2238000;STOP=2238000;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=388616;RCV=RCV000444316;SCV=SCV000530961;ALLELE_ID=364745;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1999-16C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1999-16C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_12..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-12
1 2238024 . C G . . START=2238024;STOP=2238024;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213699;RCV=RCV000198240|RCV000230294|RCV000243311;SCV=SCV000250685|SCV000287839|SCV000320452;ALLELE_ID=209486;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2007C>G;HGVS_P=NP_003027.1:p.Asp669Glu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2007C>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_22..2017;ALL_SUBMITTERS=GeneDx|Invitae..|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|Invitae..|Ambry_Genetics;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301454|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2017-03-22|2017-01-25|2015-10-13
1 2238024 . C T . . START=2238024;STOP=2238024;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432935;RCV=RCV000498915;SCV=SCV000590713;ALLELE_ID=425343;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2007C>T;HGVS_P=NP_003027.1:p.Asp669_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2007C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-26
1 2238026 . T G . . START=2238026;STOP=2238026;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409975;RCV=RCV000473086;SCV=SCV000550380;ALLELE_ID=390973;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2009T>G;HGVS_P=NP_003027.1:p.Leu670Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2009T>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_08..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-08
1 2238030 . G A . . START=2238030;STOP=2238030;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415892;RCV=RCV000460660;SCV=SCV000560923;ALLELE_ID=391089;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2013G>A;HGVS_P=NP_003027.1:p.Gln671_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2013G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_22..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-07-22
1 2238073 . G A . . START=2238073;STOP=2238073;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213709;RCV=RCV000195941;SCV=SCV000250695;ALLELE_ID=209487;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2056G>A;HGVS_P=NP_003027.1:p.Ala686Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2056G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-12-01
1 2238081 . G C . . START=2238081;STOP=2238081;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386021;RCV=RCV000425793;SCV=SCV000527527;ALLELE_ID=364756;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2064G>C;HGVS_P=NP_003027.1:p.Leu688_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2064G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_05..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-05-05
1 2238145 . T C . . START=2238145;STOP=2238145;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213710;RCV=RCV000196830;SCV=SCV000250696;ALLELE_ID=209488;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2128T>C;HGVS_P=NP_003027.1:p.Trp710Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2128T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_20..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-01-20
1 2238158 . G A . . START=2238158;STOP=2238158;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213679;RCV=RCV000197481;SCV=SCV000250662;ALLELE_ID=209489;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2141G>A;HGVS_P=NP_003027.1:p.Arg714His;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2141G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_23..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-07-23
1 2238170 . C G . . START=2238170;STOP=2238170;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213680;RCV=RCV000199684;SCV=SCV000250663;ALLELE_ID=209490;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2153C>G;HGVS_P=NP_003027.1:p.Ala718Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2153C>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-08-11
1 2238188 . C T . . START=2238188;STOP=2238188;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=440269;RCV=RCV000507977;SCV=SCV000605114;ALLELE_ID=433915;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2171C>T;HGVS_P=NP_003027.1:p.Ala724Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2171C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_04..2016;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics;SUBMITTERS_ORDERED=ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-04
1 2238191 . A C . . START=2238191;STOP=2238191;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213700;RCV=RCV000199766;SCV=SCV000250686;ALLELE_ID=209491;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2174A>C;HGVS_P=NP_003027.1:p.Glu725Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2174A>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_27..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-27
1 2238200 . C T . . START=2238200;STOP=2238200;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213701;RCV=RCV000196525;SCV=SCV000250687;ALLELE_ID=209492;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2183C>T;HGVS_P=NP_003027.1:p.Pro728Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2183C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_08..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-08
1 2238201 . G C . . START=2238201;STOP=2238201;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386048;RCV=RCV000429161|RCV000474716;SCV=SCV000527559|SCV000560936;ALLELE_ID=364924;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2184G>C;HGVS_P=NP_003027.1:p.Pro728_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2184G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-29|2016-10-01
1 2238204 . GATT G . . START=2238205;STOP=2238207;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=222822;RCV=RCV000208246;SCV=SCV000264227;ALLELE_ID=224193;SYMBOL=SKI;HGVS_C=NM_003036.3:c.*1_*3delATT;MOLECULAR_CONSEQUENCE=NM_003036.3:c.*1_*3delATT:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2015;ALL_SUBMITTERS=Blueprint_Genetics;SUBMITTERS_ORDERED=Blueprint_Genetics;ALL_TRAITS=Marfanoid_habitus;ORIGIN=germline;XREFS=MedGen:C1839796;DATES_ORDERED=2015-06-01
1 2238221 . C T . . START=2238221;STOP=2238221;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=383970;RCV=RCV000425474;SCV=SCV000524596;ALLELE_ID=364926;SYMBOL=SKI;HGVS_C=NM_003036.3:c.*17C>T;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_07..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-07
1 2336351 . C T . . START=2336351;STOP=2336351;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296252;RCV=RCV000386642;SCV=SCV000355579;ALLELE_ID=281775;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*854G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*854G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336367 . G A . . START=2336367;STOP=2336367;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296253;RCV=RCV000292328;SCV=SCV000355580;ALLELE_ID=280463;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*838C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*838C>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336370 . G A . . START=2336370;STOP=2336370;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296254;RCV=RCV000347311;SCV=SCV000355581;ALLELE_ID=280132;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*835C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*835C>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336407 . G A . . START=2336407;STOP=2336407;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296255;RCV=RCV000399261;SCV=SCV000355582;ALLELE_ID=280466;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*798C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*798C>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336423 . G T . . START=2336423;STOP=2336423;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296256;RCV=RCV000289447;SCV=SCV000355583;ALLELE_ID=280467;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*782C>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*782C>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336460 . G GC . . START=2336461;STOP=2336461;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296257;RCV=RCV000344391;SCV=SCV000355584;ALLELE_ID=280468;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*744dupG;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*744dupG:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336473 . C T . . START=2336473;STOP=2336473;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296258;RCV=RCV000393898;SCV=SCV000355585;ALLELE_ID=280469;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*732G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*732G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336517 . C A . . START=2336517;STOP=2336517;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296259;RCV=RCV000304680;SCV=SCV000355586;ALLELE_ID=280133;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*688G>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*688G>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336578 . G A . . START=2336578;STOP=2336578;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296260;RCV=RCV000359322;SCV=SCV000355587;ALLELE_ID=280471;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*627C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*627C>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336611 . G A . . START=2336611;STOP=2336611;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296261;RCV=RCV000391549;SCV=SCV000355588;ALLELE_ID=280134;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*594C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*594C>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336706 . C T . . START=2336706;STOP=2336706;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296262;RCV=RCV000301075;SCV=SCV000355589;ALLELE_ID=281924;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*499G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*499G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336785 . C T . . START=2336785;STOP=2336785;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296263;RCV=RCV000355852;SCV=SCV000355590;ALLELE_ID=281926;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*420G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*420G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336795 . C T . . START=2336795;STOP=2336795;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296264;RCV=RCV000261428;SCV=SCV000355591;ALLELE_ID=281776;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*410G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*410G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336853 . C T . . START=2336853;STOP=2336853;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296265;RCV=RCV000316672;SCV=SCV000355592;ALLELE_ID=280473;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*352G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*352G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336895 . C T . . START=2336895;STOP=2336895;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296266;RCV=RCV000371318;SCV=SCV000355593;ALLELE_ID=281778;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*310G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*310G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2336901 . G A . . START=2336901;STOP=2336901;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296267;RCV=RCV000276599;SCV=SCV000355594;ALLELE_ID=281935;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*304C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*304C>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2337032 . C T . . START=2337032;STOP=2337032;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296268;RCV=RCV000331913;SCV=SCV000355595;ALLELE_ID=280474;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*173G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*173G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2337114 . T C . . START=2337114;STOP=2337114;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296269;RCV=RCV000386410;SCV=SCV000355596;ALLELE_ID=281936;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*91A>G;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*91A>G:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2337189 . C T . . START=2337189;STOP=2337189;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296270;RCV=RCV000292051;SCV=SCV000355597;ALLELE_ID=281780;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*16G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*16G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2337194 . C T . . START=2337194;STOP=2337194;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=262787;RCV=RCV000245274|RCV000328360;SCV=SCV000316390|SCV000355598;ALLELE_ID=249840;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*11G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*11G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=25741868|20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=0000-00-00|2016-06-14
1 2337195 . G A . . START=2337195;STOP=2337195;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296271;RCV=RCV000380777;SCV=SCV000355599;ALLELE_ID=280479;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*10C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*10C>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2337209 . C T . . START=2337209;STOP=2337209;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296272;RCV=RCV000286286;SCV=SCV000355600;ALLELE_ID=281940;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.1037G>A;HGVS_P=NP_722540.1:p.Arg346His;MOLECULAR_CONSEQUENCE=NM_153818.1:c.1037G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2337252 . C T . . START=2337252;STOP=2337252;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=288707;RCV=RCV000358263;SCV=SCV000342897;ALLELE_ID=272944;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.994G>A;HGVS_P=NP_722540.1:p.Glu332Lys;MOLECULAR_CONSEQUENCE=NM_153818.1:c.994G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_09..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-09
1 2337254 . C T . . START=2337254;STOP=2337254;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=162433;RCV=RCV000149811;SCV=SCV000196635;ALLELE_ID=172124;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.992G>A;HGVS_P=NP_722540.1:p.Arg331Gln;MOLECULAR_CONSEQUENCE=NM_153818.1:c.992G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_12..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=20695019;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2010-08-01
1 2337271 . C T . . START=2337271;STOP=2337271;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=286858;RCV=RCV000393024;SCV=SCV000340436;ALLELE_ID=271095;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.975G>A;HGVS_P=NP_722540.1:p.Ala325_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.975G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_09..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-09
1 2337277 . C T . . START=2337277;STOP=2337277;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=262791;RCV=RCV000251204|RCV000341363;SCV=SCV000316397|SCV000355601;ALLELE_ID=249841;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.973-4G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.973-4G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=25741868|20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=0000-00-00|2016-06-14
1 2337939 . G A . . START=2337939;STOP=2337939;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=283862;RCV=RCV000398333|RCV000403122;SCV=SCV000355602|SCV000336208;ALLELE_ID=268099;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.956C>T;HGVS_P=NP_722540.1:p.Ala319Val;MOLECULAR_CONSEQUENCE=NM_153818.1:c.956C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome|not_specified;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006|MedGen:CN169374;DATES_ORDERED=2016-06-14|2015-10-20
1 2337965 . G C . . START=2337965;STOP=2337965;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=6771;RCV=RCV000007173;SCV=SCV000027369;ALLELE_ID=21810;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.930C>G;HGVS_P=NP_722540.1:p.His310Gln;MOLECULAR_CONSEQUENCE=NM_153818.1:c.930C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=9683594;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=1998-08-01
1 2337966 . T TC . . START=2337967;STOP=2337968;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=197886;RCV=RCV000179026;SCV=SCV000231215;ALLELE_ID=195047;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.927_928insG;HGVS_P=NP_722540.1:p.His310Alafs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.927_928insG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A;ORIGIN=germline;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912;DATES_ORDERED=2015-02-04
1 2337992 . C T . . START=2337992;STOP=2337992;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=262790;RCV=RCV000247875|RCV000282889;SCV=SCV000316396|SCV000355603;ALLELE_ID=249842;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.903G>A;HGVS_P=NP_722540.1:p.Arg301_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.903G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=25741868|20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=0000-00-00|2016-06-14
1 2337997 . G A . . START=2337997;STOP=2337997;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=286808;RCV=RCV000407787;SCV=SCV000340373;ALLELE_ID=271045;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.898C>T;HGVS_P=NP_722540.1:p.Arg300Cys;MOLECULAR_CONSEQUENCE=NM_153818.1:c.898C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_22..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-22
1 2338000 . C A . . START=2338000;STOP=2338000;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=282334;RCV=RCV000289565;SCV=SCV000333750;ALLELE_ID=266571;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.895G>T;HGVS_P=NP_722540.1:p.Glu299Ter;MOLECULAR_CONSEQUENCE=NM_153818.1:c.895G>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_12..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A;ORIGIN=germline;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912;DATES_ORDERED=2015-08-12
1 2338005 . A G . . START=2338005;STOP=2338005;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=162432;RCV=RCV000149810;SCV=SCV000196634;ALLELE_ID=172123;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.890T>C;HGVS_P=NP_722540.1:p.Leu297Pro;MOLECULAR_CONSEQUENCE=NM_153818.1:c.890T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_12..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=19127411|6;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2009-02-01
1 2338015 . T C . . START=2338015;STOP=2338015;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=197887;RCV=RCV000179027;SCV=SCV000231216|SCV000540015|SCV000316395;ALLELE_ID=195048;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.880A>G;HGVS_P=NP_722540.1:p.Thr294Ala;MOLECULAR_CONSEQUENCE=NM_153818.1:c.880A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Mar_29..2016;ALL_SUBMITTERS=PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=24033266|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-23|0000-00-00|2016-03-29
1 2338019 . C A . . START=2338019;STOP=2338019;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=289743;RCV=RCV000264178;SCV=SCV000344149;ALLELE_ID=273980;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.876G>T;HGVS_P=NP_722540.1:p.Leu292_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.876G>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_27..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-27
1 2338019 . CAG C . . START=2338020;STOP=2338021;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296273;RCV=RCV000337969|RCV000409050|RCV000411962;SCV=SCV000355604|SCV000487552|SCV000487551;ALLELE_ID=281791;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.874_875delCT;HGVS_P=NP_722540.1:p.Leu292Valfs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.874_875delCT:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_16..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina|Counsyl;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina|Counsyl;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome|Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder_6A;ALL_PMIDS=10862081|12794690|19142205|20301621|21031596|22871920|27230853|9700193;ORIGIN=germline|unknown;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006|MedGen:C3553948|OMIM:614871|Orphanet:44|Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870;DATES_ORDERED=2016-06-14|2016-08-16
1 2338023 . G A . . START=2338023;STOP=2338023;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=289191;RCV=RCV000281616;SCV=SCV000343505;ALLELE_ID=273428;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.872C>T;HGVS_P=NP_722540.1:p.Pro291Leu;MOLECULAR_CONSEQUENCE=NM_153818.1:c.872C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_30..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-30
1 2338024 . G T . . START=2338024;STOP=2338024;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=286993;RCV=RCV000388149;SCV=SCV000340616;ALLELE_ID=271230;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.871C>A;HGVS_P=NP_722540.1:p.Pro291Thr;MOLECULAR_CONSEQUENCE=NM_153818.1:c.871C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_05..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-05
1 2338151 . G A . . START=2338151;STOP=2338151;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296274;RCV=RCV000400274;SCV=SCV000355605;ALLELE_ID=280483;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.836+8C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.836+8C>T:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2338158 . C G . . START=2338158;STOP=2338158;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=225040;RCV=RCV000210672;SCV=SCV000262930;ALLELE_ID=226879;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.836+1G>C;MOLECULAR_CONSEQUENCE=NM_153818.1:c.836+1G>C:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Inborn_genetic_diseases|MR/ID/DD|Allergy/Immunologic/Infectious_(child_onset)|Hematologic_(child_onset)|Renal_(child_onset);ALL_PMIDS=22947299|23037933|23169492|23619275|23652378|23881473|24022298|24121147|24394680|25356970|25560141|25626707|25730230;ORIGIN=germline;XREFS=MeSH:D030342|MedGen:C0950123;DATES_ORDERED=0000-00-00
1 2338162 . C T . . START=2338162;STOP=2338162;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=290110;RCV=RCV000268088;SCV=SCV000344607;ALLELE_ID=274347;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.833G>A;HGVS_P=NP_722540.1:p.Arg278His;MOLECULAR_CONSEQUENCE=NM_153818.1:c.833G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_31..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-31
1 2338175 . C T . . START=2338175;STOP=2338175;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296275;RCV=RCV000297739;SCV=SCV000355606;ALLELE_ID=281804;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.820G>A;HGVS_P=NP_722540.1:p.Gly274Ser;MOLECULAR_CONSEQUENCE=NM_153818.1:c.820G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2338205 . G A . . START=2338205;STOP=2338205;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=162435;RCV=RCV000149813;SCV=SCV000196637;ALLELE_ID=172126;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.790C>T;HGVS_P=NP_722540.1:p.Arg264Ter;MOLECULAR_CONSEQUENCE=NM_153818.1:c.790C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_12..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=20695019;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2010-08-01
1 2338223 . C G . . START=2338223;STOP=2338223;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=197385;RCV=RCV000178398;SCV=SCV000230471;ALLELE_ID=194546;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.772G>C;HGVS_P=NP_722540.1:p.Gly258Arg;MOLECULAR_CONSEQUENCE=NM_153818.1:c.772G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-04
1 2338224 . G A . . START=2338224;STOP=2338224;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296276;RCV=RCV000354897;SCV=SCV000355607;ALLELE_ID=280485;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.771C>T;HGVS_P=NP_722540.1:p.Tyr257_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.771C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2338230 . C CT . . START=2338231;STOP=2338231;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=6774;RCV=RCV000007176|RCV000149808|RCV000324305;SCV=SCV000027372|SCV000487553|SCV000487554|SCV000196632|SCV000329456;ALLELE_ID=21813;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.764dupA;HGVS_P=NP_722540.1:p.Leu256Alafs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.764dupA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=5;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_22..2016;ALL_SUBMITTERS=OMIM|Counsyl|GeneDx;SUBMITTERS_ORDERED=OMIM|Counsyl|GeneDx;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A|PEROXISOME_BIOGENESIS_DISORDER_6A_(ZELLWEGER)|Peroxisome_biogenesis_disorder_6B|not_provided|Not_Provided;ALL_PMIDS=10862081|15542397|17702006|20695019|9683594;ORIGIN=germline|unknown;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912|MedGen:C3553948|OMIM:614871|Orphanet:44|MedGen:CN221809;DATES_ORDERED=2010-08-01|2016-07-22|2015-12-08
1 2338250 . C G . . START=2338250;STOP=2338250;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296277;RCV=RCV000408360|RCV000425126;SCV=SCV000355608|SCV000511689;ALLELE_ID=280137;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.745G>C;HGVS_P=NP_722540.1:p.Val249Leu;MOLECULAR_CONSEQUENCE=NM_153818.1:c.745G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_05..2017;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome|not_provided;ALL_PMIDS=20301621|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006|MedGen:CN221809;DATES_ORDERED=2016-06-14|2017-01-05-06:00
1 2338294 . C T . . START=2338294;STOP=2338294;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=291156;RCV=RCV000343088;SCV=SCV000345862;ALLELE_ID=275393;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.701G>A;HGVS_P=NP_722540.1:p.Arg234His;MOLECULAR_CONSEQUENCE=NM_153818.1:c.701G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_08..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-08
1 2338324 . C T . . START=2338324;STOP=2338324;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=197386;RCV=RCV000178399|RCV000315166;SCV=SCV000230472|SCV000355609;ALLELE_ID=194547;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.671G>A;HGVS_P=NP_722540.1:p.Arg224His;MOLECULAR_CONSEQUENCE=NM_153818.1:c.671G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2015-04-21|2016-06-14
1 2338409 . C T . . START=2338409;STOP=2338409;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296278;RCV=RCV000367525;SCV=SCV000355610;ALLELE_ID=281805;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.601-15G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.601-15G>A:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2339890 . C T . . START=2339890;STOP=2339890;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=6770;RCV=RCV000007172;SCV=SCV000027368;ALLELE_ID=21809;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.600+1G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.600+1G>A:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A|PEROXISOME_BIOGENESIS_DISORDER_6A_(ZELLWEGER);ALL_PMIDS=9683594;ORIGIN=germline;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912;DATES_ORDERED=1998-08-01
1 2339936 . G A . . START=2339936;STOP=2339936;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296279;RCV=RCV000275159;SCV=SCV000355611;ALLELE_ID=281806;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.555C>T;HGVS_P=NP_722540.1:p.His185_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.555C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2339996 . G A . . START=2339996;STOP=2339996;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=196588;RCV=RCV000177416;SCV=SCV000229272;ALLELE_ID=193749;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.495C>T;HGVS_P=NP_722540.1:p.Phe165_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.495C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_06..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-06
1 2340045 . G A . . START=2340045;STOP=2340045;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=289259;RCV=RCV000378264;SCV=SCV000343590;ALLELE_ID=273496;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.446C>T;HGVS_P=NP_722540.1:p.Thr149Met;MOLECULAR_CONSEQUENCE=NM_153818.1:c.446C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_05..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-05
1 2340073 . C G . . START=2340073;STOP=2340073;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296280;RCV=RCV000309150;SCV=SCV000355612;ALLELE_ID=281810;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.418G>C;HGVS_P=NP_722540.1:p.Gly140Arg;MOLECULAR_CONSEQUENCE=NM_153818.1:c.418G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2340118 . G A . . START=2340118;STOP=2340118;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=6772;RCV=RCV000007174;SCV=SCV000027370;ALLELE_ID=21811;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.373C>T;HGVS_P=NP_722540.1:p.Arg125Ter;MOLECULAR_CONSEQUENCE=NM_153818.1:c.373C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=9683594;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=1998-08-01
1 2340139 . G A . . START=2340139;STOP=2340139;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=371748;RCV=RCV000410037|RCV000411504;SCV=SCV000487627|SCV000487628;ALLELE_ID=357074;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.352C>T;HGVS_P=NP_722540.1:p.Gln118Ter;MOLECULAR_CONSEQUENCE=NM_153818.1:c.352C>T:nonsense;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=2;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_21..2016;ALL_SUBMITTERS=Counsyl;SUBMITTERS_ORDERED=Counsyl;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;ALL_PMIDS=10862081|21031596|25525159;ORIGIN=unknown;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912|MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2016-10-21
1 2340152 . CA C . . START=2340153;STOP=2340153;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=235465;RCV=RCV000224922;SCV=SCV000281066;ALLELE_ID=237148;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.338delT;HGVS_P=NP_722540.1:p.Leu113Argfs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.338delT:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_11..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-01-11-06:00
1 2340153 . AG A . . START=2340154;STOP=2340154;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=162431;RCV=RCV000149809;SCV=SCV000196633;ALLELE_ID=172122;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.337delC;HGVS_P=NP_722540.1:p.Leu113Trpfs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.337delC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_12..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=19127411|8982949;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2009-02-01
1 2340158 . G A . . START=2340158;STOP=2340158;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=289556;RCV=RCV000356298;SCV=SCV000343936;ALLELE_ID=273793;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.333C>T;HGVS_P=NP_722540.1:p.Leu111_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.333C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-15
1 2340173 . C T . . START=2340173;STOP=2340173;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=262789;RCV=RCV000249703|RCV000366305;SCV=SCV000316394|SCV000355613;ALLELE_ID=249843;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.318G>A;HGVS_P=NP_722540.1:p.Leu106_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.318G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=25741868|20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=0000-00-00|2016-06-14
1 2340175 . G A . . START=2340175;STOP=2340175;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296281;RCV=RCV000269378;SCV=SCV000355614;ALLELE_ID=280503;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.316C>T;HGVS_P=NP_722540.1:p.Leu106_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.316C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2340200 . T C . . START=2340200;STOP=2340200;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=129884;RCV=RCV000117902|RCV000326499;SCV=SCV000316393|SCV000152177|SCV000355615;ALLELE_ID=135330;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.291A>G;HGVS_P=NP_722540.1:p.Thr97_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.291A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=25741868|20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=0000-00-00|2016-06-14
1 2340200 . TG CA . . START=2340200;STOP=2340201;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=291010;RCV=RCV000356893;SCV=SCV000345685;ALLELE_ID=275247;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.290_291delCAinsTG;HGVS_P=NP_722540.1:p.Thr97Met;MOLECULAR_CONSEQUENCE=NM_153818.1:c.290_291delCAinsTG:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_09..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-09
1 2340211 . C T . . START=2340211;STOP=2340211;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296282;RCV=RCV000378821;SCV=SCV000355616;ALLELE_ID=281811;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.280G>A;HGVS_P=NP_722540.1:p.Val94Met;MOLECULAR_CONSEQUENCE=NM_153818.1:c.280G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2340212 . G A . . START=2340212;STOP=2340212;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=129883;RCV=RCV000117901|RCV000267822;SCV=SCV000316392|SCV000152176|SCV000355617;ALLELE_ID=135329;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.279C>T;HGVS_P=NP_722540.1:p.Gly93_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.279C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=25741868|20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=0000-00-00|2016-06-14
1 2340216 . C T . . START=2340216;STOP=2340216;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296283;RCV=RCV000320556;SCV=SCV000355618;ALLELE_ID=281812;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.275G>A;HGVS_P=NP_722540.1:p.Arg92His;MOLECULAR_CONSEQUENCE=NM_153818.1:c.275G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2340302 . G A . . START=2340302;STOP=2340302;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=262788;RCV=RCV000250225|RCV000377774;SCV=SCV000334697|SCV000316391|SCV000355619;ALLELE_ID=249844;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.194-5C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.194-5C>T:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=25741868|20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=0000-00-00|2015-09-04|2016-06-14
1 2341879 . A T . . START=2341879;STOP=2341879;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=436285;RCV=RCV000503264;SCV=SCV000596392;ALLELE_ID=427756;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.124T>A;HGVS_P=NP_722540.1:p.Trp42Arg;MOLECULAR_CONSEQUENCE=NM_153818.1:c.124T>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_13..2015;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-08-13
1 2343936 . G C . . START=2343936;STOP=2343936;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=284321;RCV=RCV000280964|RCV000370857;SCV=SCV000355620|SCV000336900;ALLELE_ID=268558;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.6C>G;HGVS_P=NP_722540.1:p.Ala2_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.6C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome|not_specified;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006|MedGen:CN169374;DATES_ORDERED=2016-06-14|2015-10-30
1 2343940 . A G . . START=2343940;STOP=2343940;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=162434;RCV=RCV000149812;SCV=SCV000196636;ALLELE_ID=172125;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.2T>C;HGVS_P=NP_722540.1:p.Met1Thr;MOLECULAR_CONSEQUENCE=NM_153818.1:c.2T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_12..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=20695019;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2010-08-01
1 2343941 . T C . . START=2343941;STOP=2343941;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=280002;RCV=RCV000341916;SCV=SCV000329696;ALLELE_ID=263985;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.1A>G;HGVS_P=NP_722540.1:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_153818.1:c.1A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_25..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2015-11-25
1 2343991 . CCA C . . START=2343992;STOP=2343993;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296284;RCV=RCV000338225;SCV=SCV000355621;ALLELE_ID=281942;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.-52_-51delTG;MOLECULAR_CONSEQUENCE=NM_153818.1:c.-52_-51delTG:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14
1 2488153 . A G . . START=2488153;STOP=2488153;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135349;RCV=RCV000122164;SCV=SCV000086379;ALLELE_ID=139088;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.50A>G;HGVS_P=NP_003811.2:p.Lys17Arg;MOLECULAR_CONSEQUENCE=NM_003820.3:c.50A>G:missense_variant|NR_037844.2:n.36-18T>C:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490452 . C T . . START=2490452;STOP=2490452;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133394;RCV=RCV000119896;SCV=SCV000084026;ALLELE_ID=137133;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.304+545C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.304+545C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490513 . C G . . START=2490513;STOP=2490513;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133395;RCV=RCV000119897;SCV=SCV000084027;ALLELE_ID=137134;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.304+606C>G;MOLECULAR_CONSEQUENCE=NM_003820.3:c.304+606C>G:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490531 . C T . . START=2490531;STOP=2490531;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133396;RCV=RCV000119898;SCV=SCV000084028;ALLELE_ID=137135;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.304+624C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.304+624C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490549 . C T . . START=2490549;STOP=2490549;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133397;RCV=RCV000119899;SCV=SCV000084029;ALLELE_ID=137136;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.304+642C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.304+642C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490608 . A G . . START=2490608;STOP=2490608;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133398;RCV=RCV000119900;SCV=SCV000084030;ALLELE_ID=137137;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-654A>G;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-654A>G:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490609 . T C . . START=2490609;STOP=2490609;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133399;RCV=RCV000119901;SCV=SCV000084031;ALLELE_ID=137138;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-653T>C;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-653T>C:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490786 . C T . . START=2490786;STOP=2490786;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133400;RCV=RCV000119902;SCV=SCV000084032;ALLELE_ID=137139;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-476C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-476C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490800 . G T . . START=2490800;STOP=2490800;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133401;RCV=RCV000119903;SCV=SCV000084033;ALLELE_ID=137140;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-462G>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-462G>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490861 . G T . . START=2490861;STOP=2490861;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133402;RCV=RCV000119904;SCV=SCV000084034;ALLELE_ID=137141;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-401G>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-401G>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490865 . T A . . START=2490865;STOP=2490865;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133403;RCV=RCV000119905;SCV=SCV000084035;ALLELE_ID=137142;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-397T>A;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-397T>A:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490898 . C A . . START=2490898;STOP=2490898;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133404;RCV=RCV000119906;SCV=SCV000084036;ALLELE_ID=137143;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-364C>A;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-364C>A:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490934 . C A . . START=2490934;STOP=2490934;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133405;RCV=RCV000119907;SCV=SCV000084037;ALLELE_ID=137144;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-328C>A;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-328C>A:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490942 . C A . . START=2490942;STOP=2490942;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133406;RCV=RCV000119908;SCV=SCV000084038;ALLELE_ID=137145;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-320C>A;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-320C>A:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2490954 . C T . . START=2490954;STOP=2490954;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133407;RCV=RCV000119909;SCV=SCV000084039;ALLELE_ID=137146;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-308C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-308C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491013 . C T . . START=2491013;STOP=2491013;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133408;RCV=RCV000119910;SCV=SCV000084040;ALLELE_ID=137147;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-249C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-249C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491061 . G A . . START=2491061;STOP=2491061;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133409;RCV=RCV000119911;SCV=SCV000084041;ALLELE_ID=137148;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-201G>A;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-201G>A:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491071 . C G . . START=2491071;STOP=2491071;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133410;RCV=RCV000119912;SCV=SCV000084042;ALLELE_ID=137149;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-191C>G;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-191C>G:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491071 . C T . . START=2491071;STOP=2491071;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133411;RCV=RCV000119913;SCV=SCV000084043;ALLELE_ID=137150;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-191C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-191C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491091 . G A . . START=2491091;STOP=2491091;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133412;RCV=RCV000119914;SCV=SCV000084044;ALLELE_ID=137151;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-171G>A;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-171G>A:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491164 . G A . . START=2491164;STOP=2491164;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133413;RCV=RCV000119915;SCV=SCV000084045;ALLELE_ID=137152;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-98G>A;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-98G>A:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491203 . CCC ACT . . START=2491203;STOP=2491205;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133415;RCV=RCV000119917;SCV=SCV000084047;ALLELE_ID=137154;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-59_305-57delCCCinsACT;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-59_305-57delCCCinsACT:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491205 . C T . . START=2491205;STOP=2491205;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133414;RCV=RCV000119916;SCV=SCV000084046;ALLELE_ID=137153;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.305-57C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.305-57C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491305 . C T . . START=2491305;STOP=2491305;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135350;RCV=RCV000122165;SCV=SCV000086380;ALLELE_ID=139089;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.348C>T;HGVS_P=NP_003811.2:p.Asn116_eq_;MOLECULAR_CONSEQUENCE=NM_003820.3:c.348C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491306 . G A . . START=2491306;STOP=2491306;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135353;RCV=RCV000122168;SCV=SCV000086383;ALLELE_ID=139092;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.349G>A;HGVS_P=NP_003811.2:p.Ala117Thr;MOLECULAR_CONSEQUENCE=NM_003820.3:c.349G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491362 . C T . . START=2491362;STOP=2491362;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135351;RCV=RCV000122166;SCV=SCV000086381;ALLELE_ID=139090;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.405C>T;HGVS_P=NP_003811.2:p.Cys135_eq_;MOLECULAR_CONSEQUENCE=NM_003820.3:c.405C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2491365 . C T . . START=2491365;STOP=2491365;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135352;RCV=RCV000122167;SCV=SCV000086382;ALLELE_ID=139091;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.408C>T;HGVS_P=NP_003811.2:p.Ala136_eq_;MOLECULAR_CONSEQUENCE=NM_003820.3:c.408C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2492123 . G A . . START=2492123;STOP=2492123;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135354;RCV=RCV000122169;SCV=SCV000086384;ALLELE_ID=139093;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.521G>A;HGVS_P=NP_003811.2:p.Gly174Glu;MOLECULAR_CONSEQUENCE=NM_003820.3:c.521G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2492946 . AG A . . START=2492947;STOP=2492947;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133416;RCV=RCV000119918;SCV=SCV000084048;ALLELE_ID=137155;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.552-165delG;MOLECULAR_CONSEQUENCE=NM_003820.3:c.552-165delG:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2492972 . C T . . START=2492972;STOP=2492972;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133417;RCV=RCV000119919;SCV=SCV000084049;ALLELE_ID=137156;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.552-140C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.552-140C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2493118 . C G . . START=2493118;STOP=2493118;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=91954;RCV=RCV000122511;SCV=SCV000155019;ALLELE_ID=97432;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.558C>G;HGVS_P=NP_003811.2:p.Ser186Arg;MOLECULAR_CONSEQUENCE=NM_001297605.1:c.551+965C>G:intron_variant|NM_003820.3:c.558C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=unknown;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Richard_Lifton_Laboratory..Yale_University_School_of_Medicine;SUBMITTERS_ORDERED=Richard_Lifton_Laboratory..Yale_University_School_of_Medicine;ALL_TRAITS=not_provided|not_provided;ORIGIN=somatic;XREFS=MedGen:CN221809;DATES_ORDERED=0000-00-00
1 2494330 . G A . . START=2494330;STOP=2494330;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135355;RCV=RCV000122170;SCV=SCV000086385;ALLELE_ID=139094;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.721G>A;HGVS_P=NP_003811.2:p.Val241Ile;MOLECULAR_CONSEQUENCE=NM_001297605.1:c.*23G>A:3_prime_UTR_variant|NM_003820.3:c.721G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2494645 . C T . . START=2494645;STOP=2494645;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135356;RCV=RCV000122171;SCV=SCV000086386;ALLELE_ID=139095;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.785C>T;HGVS_P=NP_003811.2:p.Pro262Leu;MOLECULAR_CONSEQUENCE=NM_001297605.1:c.*87C>T:3_prime_UTR_variant|NM_003820.3:c.785C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2494657 . C T . . START=2494657;STOP=2494657;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135357;RCV=RCV000122172;SCV=SCV000086387;ALLELE_ID=139096;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.797C>T;HGVS_P=NP_003811.2:p.Thr266Met;MOLECULAR_CONSEQUENCE=NM_001297605.1:c.*99C>T:3_prime_UTR_variant|NM_003820.3:c.797C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19
1 2985810 . C A . . START=2985810;STOP=2985810;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=228319;RCV=RCV000214266;SCV=SCV000271302;ALLELE_ID=228411;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.-14C>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.-14C>A:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Apr_07..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-07
1 2985844 . G A . . START=2985844;STOP=2985844;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390136;RCV=RCV000439530;SCV=SCV000532887;ALLELE_ID=365123;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.21G>A;HGVS_P=NP_071397.3:p.Ala7_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.21G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-26
1 3102674 . C T . . START=3102674;STOP=3102674;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227038;RCV=RCV000222776;SCV=SCV000525689|SCV000269736;ALLELE_ID=228410;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.38-15C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.38-15C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-24|2016-11-21
1 3102675 . G A . . START=3102675;STOP=3102675;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229168;RCV=RCV000219133;SCV=SCV000527901|SCV000272332;ALLELE_ID=228412;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.38-14G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.38-14G>A:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=May_25..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-14|2017-05-25
1 3102751 . G A . . START=3102751;STOP=3102751;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227857;RCV=RCV000215109|RCV000228623;SCV=SCV000270747|SCV000525664|SCV000290637;ALLELE_ID=228413;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.100G>A;HGVS_P=NP_071397.3:p.Ala34Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.100G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=3;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_12..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-04-01|2016-10-06|2016-12-12
1 3102752 . C T . . START=3102752;STOP=3102752;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406246;RCV=RCV000456657;SCV=SCV000544798;ALLELE_ID=391167;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.101C>T;HGVS_P=NP_071397.3:p.Ala34Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.101C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_19..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-19
1 3102793 . G A . . START=3102793;STOP=3102793;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241420;RCV=RCV000234327|RCV000430883;SCV=SCV000290639|SCV000534200;ALLELE_ID=238267;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.142G>A;HGVS_P=NP_071397.3:p.Val48Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.142G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_22..2016;ALL_SUBMITTERS=Invitae..|GeneDx;SUBMITTERS_ORDERED=Invitae..|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2015-11-17|2016-11-22
1 3102797 . G A . . START=3102797;STOP=3102797;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423614;RCV=RCV000486085;SCV=SCV000573332;ALLELE_ID=405157;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.146G>A;HGVS_P=NP_071397.3:p.Gly49Glu;MOLECULAR_CONSEQUENCE=NM_022114.3:c.146G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_15..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-15
1 3102851 . C T . . START=3102851;STOP=3102851;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406237;RCV=RCV000469281;SCV=SCV000544788;ALLELE_ID=391187;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.200C>T;HGVS_P=NP_071397.3:p.Pro67Leu;MOLECULAR_CONSEQUENCE=NM_022114.3:c.200C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_05..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-05
1 3102852 . G A . . START=3102852;STOP=3102852;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227864;RCV=RCV000220218|RCV000228859;SCV=SCV000270754|SCV000290643;ALLELE_ID=228414;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.201G>A;HGVS_P=NP_071397.3:p.Pro67_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.201G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_24..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-08-11|2016-06-24
1 3102998 . T C . . START=3102998;STOP=3102998;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391742;RCV=RCV000426483;SCV=SCV000534878;ALLELE_ID=365215;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.347T>C;HGVS_P=NP_071397.3:p.Val116Ala;MOLECULAR_CONSEQUENCE=NM_022114.3:c.347T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_16..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-16
1 3103044 . C T . . START=3103044;STOP=3103044;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227039;RCV=RCV000216479|RCV000464355;SCV=SCV000269737|SCV000556981;ALLELE_ID=228415;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.387+6C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.387+6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_06..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-06-10|2016-11-06
1 3160666 . G A . . START=3160666;STOP=3160666;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432894;RCV=RCV000498621;SCV=SCV000590667;ALLELE_ID=425363;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.403G>A;HGVS_P=NP_071397.3:p.Val135Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.403G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_19..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-19
1 3160692 . C T . . START=3160692;STOP=3160692;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227040;RCV=RCV000219941;SCV=SCV000269738;ALLELE_ID=228416;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.429C>T;HGVS_P=NP_071397.3:p.Cys143_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.429C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2014;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-24
1 3301712 . G T . . START=3301712;STOP=3301712;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413869;RCV=RCV000463252;SCV=SCV000556978;ALLELE_ID=391188;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.439-4G>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.439-4G>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_26..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-06-26
1 3301721 . C T . . START=3301721;STOP=3301721;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227041;RCV=RCV000213616;SCV=SCV000269739|SCV000520304;ALLELE_ID=228417;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.444C>T;HGVS_P=NP_071397.3:p.Ser148_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.444C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_09..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04|2016-09-09
1 3301758 . A G . . START=3301758;STOP=3301758;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406240;RCV=RCV000475755;SCV=SCV000544792;ALLELE_ID=391170;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.481A>G;HGVS_P=NP_071397.3:p.Asn161Asp;MOLECULAR_CONSEQUENCE=NM_022114.3:c.481A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_19..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-19
1 3301765 . C T . . START=3301765;STOP=3301765;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391177;RCV=RCV000444937;SCV=SCV000534187;ALLELE_ID=365226;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.488C>T;HGVS_P=NP_071397.3:p.Ala163Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.488C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_30..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-30
1 3301830 . A G . . START=3301830;STOP=3301830;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=235271;RCV=RCV000224254;SCV=SCV000280726;ALLELE_ID=236958;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.553A>G;HGVS_P=NP_071397.3:p.Met185Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.553A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_11..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-01-11-06:00
1 3301859 . G A . . START=3301859;STOP=3301859;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413864;RCV=RCV000473521;SCV=SCV000556968;ALLELE_ID=391176;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.573+9G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.573+9G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_03..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-03
1 3313031 . TTCTC T . . START=3313035;STOP=3313038;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=422807;RCV=RCV000482222;SCV=SCV000572372;ALLELE_ID=405161;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.574-20_574-17delCTCT;MOLECULAR_CONSEQUENCE=NM_022114.3:c.574-20_574-17delCTCT:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-29
1 3313108 . C T . . START=3313108;STOP=3313108;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227042;RCV=RCV000217911|RCV000470033;SCV=SCV000269740|SCV000527902|SCV000556962;ALLELE_ID=228418;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.627C>T;HGVS_P=NP_071397.3:p.His209_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.627C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_29..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-10-11|2016-12-29
1 3313138 . A C . . START=3313138;STOP=3313138;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227872;RCV=RCV000217723;SCV=SCV000270762;ALLELE_ID=228419;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.657A>C;HGVS_P=NP_071397.3:p.Thr219_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.657A>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_01..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-01
1 3313147 . C T . . START=3313147;STOP=3313147;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=226442;RCV=RCV000488452;SCV=SCV000270763;ALLELE_ID=228241;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.666C>T;HGVS_P=NP_071397.3:p.Pro222_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.666C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_11..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-11
1 3319339 . G A . . START=3319339;STOP=3319339;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=381208;RCV=RCV000420246;SCV=SCV000520353;ALLELE_ID=365019;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.677-16G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.677-16G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_04..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-04
1 3319392 . C A . . START=3319392;STOP=3319392;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227874;RCV=RCV000214448;SCV=SCV000270764;ALLELE_ID=228420;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.714C>A;HGVS_P=NP_071397.3:p.Leu238_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.714C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2014;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-24
1 3319461 . C T . . START=3319461;STOP=3319461;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227043;RCV=RCV000220870|RCV000228241;SCV=SCV000528008|SCV000269741|SCV000290657;ALLELE_ID=228422;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.783C>T;HGVS_P=NP_071397.3:p.Tyr261_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.783C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-10-04|2017-01-19
1 3319500 . C T . . START=3319500;STOP=3319500;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227875;RCV=RCV000217462;SCV=SCV000270765;ALLELE_ID=228423;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.822C>T;HGVS_P=NP_071397.3:p.Gly274_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.822C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2014;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-24
1 3319503 . TG T . . START=3319504;STOP=3319504;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=377306;RCV=RCV000442803;SCV=SCV000511708;ALLELE_ID=364184;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.826delG;HGVS_P=NP_071397.3:p.Gly276Alafs;MOLECULAR_CONSEQUENCE=NM_022114.3:c.826delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_07..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2017-02-07-06:00
1 3319545 . G A . . START=3319545;STOP=3319545;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229169;RCV=RCV000223395;SCV=SCV000272333;ALLELE_ID=228425;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.867G>A;HGVS_P=NP_071397.3:p.Met289Ile;MOLECULAR_CONSEQUENCE=NM_022114.3:c.867G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_14..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-14
1 3319550 . C T . . START=3319550;STOP=3319550;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60728;RCV=RCV000054522;SCV=SCV000083000;ALLELE_ID=75288;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.872C>T;HGVS_P=NP_071397.3:p.Pro291Leu;MOLECULAR_CONSEQUENCE=NM_022114.3:c.872C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dilated_cardiomyopathy_1LL|CARDIOMYOPATHY..DILATED..1LL;ALL_PMIDS=23768516;ORIGIN=germline;XREFS=MedGen:CN178850|OMIM:615373;DATES_ORDERED=2013-07-11
1 3321298 . C T . . START=3321298;STOP=3321298;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391408;RCV=RCV000431911;SCV=SCV000534475;ALLELE_ID=365024;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.885-5C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.885-5C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_05..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-05
1 3321299 . G A . . START=3321299;STOP=3321299;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413870;RCV=RCV000457740;SCV=SCV000556980;ALLELE_ID=391323;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.885-4G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.885-4G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_31..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-03-31
1 3322049 . G A . . START=3322049;STOP=3322049;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413861;RCV=RCV000466116;SCV=SCV000556961;ALLELE_ID=391327;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1033-10G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1033-10G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_20..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-09-20
1 3322051 . C T . . START=3322051;STOP=3322051;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413872;RCV=RCV000465432;SCV=SCV000556984;ALLELE_ID=391224;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1033-8C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1033-8C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_04..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-04-04
1 3322097 . C T . . START=3322097;STOP=3322097;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=221025;RCV=RCV000204192|RCV000220538;SCV=SCV000262104|SCV000533008|SCV000269718;ALLELE_ID=221095;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1071C>T;HGVS_P=NP_071397.3:p.Arg357_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1071C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_12..2017;ALL_SUBMITTERS=Invitae..|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Invitae..|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2017-01-12|2014-11-24|2016-11-16
1 3322107 . G A . . START=3322107;STOP=3322107;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229155;RCV=RCV000213682;SCV=SCV000272319;ALLELE_ID=228426;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1081G>A;HGVS_P=NP_071397.3:p.Val361Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1081G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_08..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-08
1 3322119 . G T . . START=3322119;STOP=3322119;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229156;RCV=RCV000216650;SCV=SCV000272320;ALLELE_ID=228427;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1093G>T;HGVS_P=NP_071397.3:p.Ala365Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1093G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_28..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-28
1 3322139 . C T . . START=3322139;STOP=3322139;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227022;RCV=RCV000214207|RCV000475757;SCV=SCV000269719|SCV000525690|SCV000556971;ALLELE_ID=228429;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1113C>T;HGVS_P=NP_071397.3:p.Cys371_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1113C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_10..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-09-30|2017-01-10
1 3322142 . G A . . START=3322142;STOP=3322142;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227858;RCV=RCV000219433;SCV=SCV000535019|SCV000270748;ALLELE_ID=228428;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1116G>A;HGVS_P=NP_071397.3:p.Gly372_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1116G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Dec_20..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-06-10|2016-12-20
1 3322160 . C G . . START=3322160;STOP=3322160;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227859;RCV=RCV000222431|RCV000463379;SCV=SCV000534351|SCV000270749|SCV000556958;ALLELE_ID=228430;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1134C>G;HGVS_P=NP_071397.3:p.Ser378_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1134C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_28..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-03-24|2016-11-28|2016-06-21
1 3327938 . G C . . START=3327938;STOP=3327938;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229157;RCV=RCV000221026;SCV=SCV000272321;ALLELE_ID=228431;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1187-10G>C;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1187-10G>C:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_26..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-26
1 3327973 . G A . . START=3327973;STOP=3327973;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227023;RCV=RCV000217174|RCV000230341;SCV=SCV000531906|SCV000269720|SCV000290638;ALLELE_ID=228432;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1212G>A;HGVS_P=NP_071397.3:p.Thr404_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1212G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_12..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2017-01-12|2017-01-04
1 3328086 . G A . . START=3328086;STOP=3328086;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373356;RCV=RCV000414577;SCV=SCV000491943;ALLELE_ID=359261;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1325G>A;HGVS_P=NP_071397.3:p.Arg442Gln;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1325G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-21
1 3328089 . G A . . START=3328089;STOP=3328089;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432618;RCV=RCV000497461;SCV=SCV000590367;ALLELE_ID=425364;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1328G>A;HGVS_P=NP_071397.3:p.Arg443His;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1328G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_09..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-09
1 3328124 . G A . . START=3328124;STOP=3328124;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227860;RCV=RCV000214839;SCV=SCV000270750;ALLELE_ID=228433;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1363G>A;HGVS_P=NP_071397.3:p.Gly455Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1363G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-11-24
1 3328154 . C G . . START=3328154;STOP=3328154;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406236;RCV=RCV000459138;SCV=SCV000544787;ALLELE_ID=391328;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1393C>G;HGVS_P=NP_071397.3:p.Pro465Ala;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1393C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_13..2017;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2017-01-13
1 3328187 . C T . . START=3328187;STOP=3328187;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227024;RCV=RCV000221460|RCV000474106;SCV=SCV000269721|SCV000556965;ALLELE_ID=228435;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1426C>T;HGVS_P=NP_071397.3:p.Pro476Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1426C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_12..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-09-12
1 3328219 . CG C . . START=3328220;STOP=3328220;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426516;RCV=RCV000489128;SCV=SCV000576978;ALLELE_ID=414793;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1459delG;HGVS_P=NP_071397.3:p.Glu487Serfs;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1459delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_13..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2017-04-13
1 3328246 . G A . . START=3328246;STOP=3328246;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406234;RCV=RCV000464362;SCV=SCV000544785;ALLELE_ID=391330;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1485G>A;HGVS_P=NP_071397.3:p.Pro495_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1485G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_06..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-06
1 3328279 . G A . . START=3328279;STOP=3328279;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227025;RCV=RCV000214308|RCV000461808;SCV=SCV000532874|SCV000269722|SCV000556955;ALLELE_ID=228434;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1518G>A;HGVS_P=NP_071397.3:p.Thr506_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1518G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-12-07|2017-01-18
1 3328298 . G A . . START=3328298;STOP=3328298;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241421;RCV=RCV000228195;SCV=SCV000290640;ALLELE_ID=238269;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1537G>A;HGVS_P=NP_071397.3:p.Gly513Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1537G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_28..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-03-28
1 3328306 . G A . . START=3328306;STOP=3328306;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413859;RCV=RCV000477564;SCV=SCV000556957;ALLELE_ID=391189;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1545G>A;HGVS_P=NP_071397.3:p.Pro515_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1545G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_03..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-03
1 3328329 . A AC . . START=3328334;STOP=3328334;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=280120;RCV=RCV000365162;SCV=SCV000329980;ALLELE_ID=264033;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1573dupC;HGVS_P=NP_071397.3:p.Arg525Profs;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1573dupC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_08..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-02-08
1 3328335 . G A . . START=3328335;STOP=3328335;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229158;RCV=RCV000213365;SCV=SCV000272322;ALLELE_ID=228436;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1574G>A;HGVS_P=NP_071397.3:p.Arg525Gln;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1574G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_26..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-01-26
1 3328339 . G A . . START=3328339;STOP=3328339;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227861;RCV=RCV000219165|RCV000470998;SCV=SCV000270751|SCV000556982;ALLELE_ID=228437;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1578G>A;HGVS_P=NP_071397.3:p.Pro526_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1578G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_18..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-01-22|2016-10-18
1 3328358 . T C . . START=3328358;STOP=3328358;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227026;RCV=RCV000217271;SCV=SCV000520301|SCV000269723;ALLELE_ID=228438;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1597T>C;HGVS_P=NP_071397.3:p.Ser533Pro;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1597T>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_09..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04|2016-09-09
1 3328360 . G A . . START=3328360;STOP=3328360;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413858;RCV=RCV000471293;SCV=SCV000556956;ALLELE_ID=391333;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1599G>A;HGVS_P=NP_071397.3:p.Ser533_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1599G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_03..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-08-03
1 3328393 . C T . . START=3328393;STOP=3328393;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241422;RCV=RCV000232157;SCV=SCV000290641;ALLELE_ID=238270;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1632C>T;HGVS_P=NP_071397.3:p.Asp544_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1632C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_26..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-02-26
1 3328445 . G A . . START=3328445;STOP=3328445;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227862;RCV=RCV000223463|RCV000459912;SCV=SCV000530370|SCV000270752|SCV000556986;ALLELE_ID=228439;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1684G>A;HGVS_P=NP_071397.3:p.Val562Ile;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1684G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2017-06-27|2016-11-03
1 3328467 . C T . . START=3328467;STOP=3328467;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426420;RCV=RCV000489145;SCV=SCV000576855;ALLELE_ID=414794;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1706C>T;HGVS_P=NP_071397.3:p.Thr569Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1706C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_17..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-04-17
1 3328480 . G A . . START=3328480;STOP=3328480;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241423;RCV=RCV000225997;SCV=SCV000290642;ALLELE_ID=238271;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1719G>A;HGVS_P=NP_071397.3:p.Ala573_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1719G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_13..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-03-13
1 3328487 . G A . . START=3328487;STOP=3328487;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=430198;RCV=RCV000494613;SCV=SCV000582941;ALLELE_ID=421241;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1726G>A;HGVS_P=NP_071397.3:p.Glu576Lys;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1726G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_19..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-19
1 3328558 . G A . . START=3328558;STOP=3328558;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390967;RCV=RCV000440662;SCV=SCV000533929;ALLELE_ID=365233;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1797G>A;HGVS_P=NP_071397.3:p.Ser599_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1797G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_18..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-18
1 3328611 . C T . . START=3328611;STOP=3328611;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432644;RCV=RCV000498119;SCV=SCV000590394;ALLELE_ID=425365;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1850C>T;HGVS_P=NP_071397.3:p.Thr617Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1850C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_13..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-13
1 3328638 . A T . . START=3328638;STOP=3328638;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229159;RCV=RCV000217585;SCV=SCV000272323;ALLELE_ID=228441;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1877A>T;HGVS_P=NP_071397.3:p.Asp626Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1877A>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_26..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-01-26
1 3328643 . G A . . START=3328643;STOP=3328643;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406247;RCV=RCV000466162;SCV=SCV000544799;ALLELE_ID=391230;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1882G>A;HGVS_P=NP_071397.3:p.Asp628Asn;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1882G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-07-15
1 3328659 . C T . . START=3328659;STOP=3328659;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227027;RCV=RCV000221571;SCV=SCV000269724|SCV000520305;ALLELE_ID=228440;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1898C>T;HGVS_P=NP_071397.3:p.Pro633Leu;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1898C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04|2016-09-23
1 3328691 . G A . . START=3328691;STOP=3328691;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392339;RCV=RCV000431315;SCV=SCV000535594;ALLELE_ID=365026;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1930G>A;HGVS_P=NP_071397.3:p.Glu644Lys;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1930G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_05..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-05
1 3328723 . G A . . START=3328723;STOP=3328723;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413863;RCV=RCV000458957;SCV=SCV000556966;ALLELE_ID=391179;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1962G>A;HGVS_P=NP_071397.3:p.Ala654_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1962G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_31..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-07-31
1 3328726 . C A . . START=3328726;STOP=3328726;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391905;RCV=RCV000441266;SCV=SCV000535074;ALLELE_ID=365030;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1965C>A;HGVS_P=NP_071397.3:p.Pro655_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1965C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_19..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-19
1 3328733 . G C . . START=3328733;STOP=3328733;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406241;RCV=RCV000462349;SCV=SCV000544793;ALLELE_ID=391192;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1972G>C;HGVS_P=NP_071397.3:p.Ala658Pro;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1972G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_10..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-07-10
1 3328738 . G A . . START=3328738;STOP=3328738;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227863;RCV=RCV000215898;SCV=SCV000270753;ALLELE_ID=228442;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1977G>A;HGVS_P=NP_071397.3:p.Pro659_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1977G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_11..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-11
1 3328798 . C T . . START=3328798;STOP=3328798;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413865;RCV=RCV000461094;SCV=SCV000556972;ALLELE_ID=391334;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2037C>T;HGVS_P=NP_071397.3:p.Asp679_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2037C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_30..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-30
1 3328821 . G C . . START=3328821;STOP=3328821;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229160;RCV=RCV000221873;SCV=SCV000272324;ALLELE_ID=228443;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2060G>C;HGVS_P=NP_071397.3:p.Gly687Ala;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2060G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_22..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-22
1 3328850 . G T . . START=3328850;STOP=3328850;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229161;RCV=RCV000214303;SCV=SCV000272325;ALLELE_ID=228444;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2089G>T;HGVS_P=NP_071397.3:p.Ala697Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2089G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_22..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-22
1 3328852 . A T . . START=3328852;STOP=3328852;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227028;RCV=RCV000215257|RCV000470201;SCV=SCV000269725|SCV000556959;ALLELE_ID=228445;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2091A>T;HGVS_P=NP_071397.3:p.Ala697_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2091A>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_27..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-12-27
1 3328861 . C T . . START=3328861;STOP=3328861;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=220733;RCV=RCV000204005;SCV=SCV000261518;ALLELE_ID=221096;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2100C>T;HGVS_P=NP_071397.3:p.Ala700_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2100C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_25..2015;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-11-25
1 3328865 . A T . . START=3328865;STOP=3328865;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60724;RCV=RCV000054518;SCV=SCV000082996;ALLELE_ID=75284;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2104A>T;HGVS_P=NP_071397.3:p.Lys702Ter;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2104A>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Left_ventricular_noncompaction_8|LEFT_VENTRICULAR_NONCOMPACTION_8;ALL_PMIDS=23768516;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2013-07-11
1 3328887 . T C . . START=3328887;STOP=3328887;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426184;RCV=RCV000489210;SCV=SCV000576566;ALLELE_ID=414795;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2126T>C;HGVS_P=NP_071397.3:p.Met709Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2126T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_27..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-04-27
1 3328891 . G A . . START=3328891;STOP=3328891;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241424;RCV=RCV000232265;SCV=SCV000290644;ALLELE_ID=238272;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2130G>A;HGVS_P=NP_071397.3:p.Gly710_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2130G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_29..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-03-29
1 3328903 . G A . . START=3328903;STOP=3328903;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413867;RCV=RCV000462221;SCV=SCV000556975;ALLELE_ID=391195;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2142G>A;HGVS_P=NP_071397.3:p.Lys714_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2142G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_28..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-05-28
1 3328933 . G A . . START=3328933;STOP=3328933;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391055;RCV=RCV000418130;SCV=SCV000534030;ALLELE_ID=365033;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2172G>A;HGVS_P=NP_071397.3:p.Ala724_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2172G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-21
1 3329042 . G A . . START=3329042;STOP=3329042;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406239;RCV=RCV000461410;SCV=SCV000544790;ALLELE_ID=391197;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2281G>A;HGVS_P=NP_071397.3:p.Ala761Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2281G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-06-14
1 3329051 . G A . . START=3329051;STOP=3329051;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229162;RCV=RCV000217269|RCV000226109;SCV=SCV000272326|SCV000530498|SCV000290645;ALLELE_ID=228446;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2290G>A;HGVS_P=NP_071397.3:p.Val764Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2290G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_12..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-10-20|2016-12-12|2016-10-18
1 3329140 . G A . . START=3329140;STOP=3329140;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413873;RCV=RCV000473649;SCV=SCV000556985;ALLELE_ID=391232;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2379G>A;HGVS_P=NP_071397.3:p.Ser793_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2379G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_25..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-25
1 3329147 . G A . . START=3329147;STOP=3329147;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=424068;RCV=RCV000478115;SCV=SCV000573845;ALLELE_ID=405162;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2386G>A;HGVS_P=NP_071397.3:p.Ala796Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2386G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_10..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-10
1 3329167 . G A . . START=3329167;STOP=3329167;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390010;RCV=RCV000438891;SCV=SCV000532721;ALLELE_ID=365036;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2406G>A;HGVS_P=NP_071397.3:p.Pro802_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2406G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_14..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-14
1 3329195 . C T . . START=3329195;STOP=3329195;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229163;RCV=RCV000221476;SCV=SCV000272327;ALLELE_ID=228447;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2434C>T;HGVS_P=NP_071397.3:p.Arg812Cys;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2434C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_02..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-02
1 3329204 . C T . . START=3329204;STOP=3329204;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406222;RCV=RCV000468700;SCV=SCV000544765;ALLELE_ID=391182;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2443C>T;HGVS_P=NP_071397.3:p.Gln815Ter;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2443C>T:nonsense;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_24..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-04-24
1 3329208 . A G . . START=3329208;STOP=3329208;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60726;RCV=RCV000054520;SCV=SCV000082998;ALLELE_ID=75286;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2447A>G;HGVS_P=NP_071397.3:p.Asn816Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2447A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Left_ventricular_noncompaction_8|LEFT_VENTRICULAR_NONCOMPACTION_8;ALL_PMIDS=23768516;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2013-07-11
1 3329209 . C T . . START=3329209;STOP=3329209;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=388234;RCV=RCV000421212|RCV000471531;SCV=SCV000530495|SCV000556976;ALLELE_ID=365129;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2448C>T;HGVS_P=NP_071397.3:p.Asn816_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2448C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_24..2017;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2017-04-24|2016-10-09
1 3329210 . G A . . START=3329210;STOP=3329210;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241425;RCV=RCV000230075;SCV=SCV000290646;ALLELE_ID=238273;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2449G>A;HGVS_P=NP_071397.3:p.Gly817Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2449G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_15..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-02-15
1 3329213 . G A . . START=3329213;STOP=3329213;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241426;RCV=RCV000232966|RCV000418666;SCV=SCV000290647|SCV000532573;ALLELE_ID=238274;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2452G>A;HGVS_P=NP_071397.3:p.Gly818Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2452G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_16..2017;ALL_SUBMITTERS=Invitae..|GeneDx;SUBMITTERS_ORDERED=Invitae..|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2017-01-16|2016-10-11
1 3329228 . C T . . START=3329228;STOP=3329228;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406245;RCV=RCV000471354;SCV=SCV000544797;ALLELE_ID=391233;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2467C>T;HGVS_P=NP_071397.3:p.Arg823Cys;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2467C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_07..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-07
1 3329229 . G C . . START=3329229;STOP=3329229;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227865;RCV=RCV000223185|RCV000226799;SCV=SCV000533889|SCV000270755|SCV000290648;ALLELE_ID=228448;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2468G>C;HGVS_P=NP_071397.3:p.Arg823Pro;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2468G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_26..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266|26350513;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-01-13|2017-05-26|2017-01-04
1 3329263 . C T . . START=3329263;STOP=3329263;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227029;RCV=RCV000219694;SCV=SCV000269726|SCV000520302;ALLELE_ID=228449;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2502C>T;HGVS_P=NP_071397.3:p.Gly834_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2502C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_06..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-11|2016-10-06
1 3329267 . G A . . START=3329267;STOP=3329267;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227030;RCV=RCV000221333|RCV000469328;SCV=SCV000269727|SCV000556970;ALLELE_ID=228450;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2506G>A;HGVS_P=NP_071397.3:p.Gly836Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2506G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_12..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-09-12
1 3329297 . C T . . START=3329297;STOP=3329297;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406238;RCV=RCV000476374;SCV=SCV000544789;ALLELE_ID=391237;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2536C>T;HGVS_P=NP_071397.3:p.Arg846Trp;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2536C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_03..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-03
1 3329337 . C T . . START=3329337;STOP=3329337;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229164;RCV=RCV000215161|RCV000468206;SCV=SCV000492137|SCV000272328|SCV000544791;ALLELE_ID=228451;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2576C>T;HGVS_P=NP_071397.3:p.Ser859Leu;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2576C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=3;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_28..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-06-10|2016-11-28|2016-04-07
1 3329384 . C T . . START=3329384;STOP=3329384;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=381194;RCV=RCV000433986;SCV=SCV000520306;ALLELE_ID=365234;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2603+20C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2603+20C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-23
1 3331154 . C T . . START=3331154;STOP=3331154;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227866;RCV=RCV000216924|RCV000469880;SCV=SCV000530820|SCV000270756|SCV000556979;ALLELE_ID=228452;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2634C>T;HGVS_P=NP_071397.3:p.Pro878_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2634C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_25..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-10-22|2017-04-25|2017-01-10
1 3331155 . G A . . START=3331155;STOP=3331155;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432243;RCV=RCV000498032;SCV=SCV000589953;ALLELE_ID=425366;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2635G>A;HGVS_P=NP_071397.3:p.Val879Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2635G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_05..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-05
1 3331166 . G A . . START=3331166;STOP=3331166;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413866;RCV=RCV000467739;SCV=SCV000556973;ALLELE_ID=391194;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2646G>A;HGVS_P=NP_071397.3:p.Leu882_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2646G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-10-26
1 3331180 . T C . . START=3331180;STOP=3331180;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60729;RCV=RCV000054523;SCV=SCV000083001;ALLELE_ID=75289;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2660T>C;HGVS_P=NP_071397.3:p.Leu887Pro;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2660T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dilated_cardiomyopathy_1LL|CARDIOMYOPATHY..DILATED..1LL;ALL_PMIDS=23768516;ORIGIN=germline;XREFS=MedGen:CN178850|OMIM:615373;DATES_ORDERED=2013-07-11
1 3331193 . G A . . START=3331193;STOP=3331193;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227031;RCV=RCV000215017|RCV000475588;SCV=SCV000525688|SCV000269728|SCV000556954;ALLELE_ID=228453;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2673G>A;HGVS_P=NP_071397.3:p.Pro891_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2673G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_23..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-10-11|2016-10-23
1 3331216 . G A . . START=3331216;STOP=3331216;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390179;RCV=RCV000437038;SCV=SCV000532947;ALLELE_ID=365238;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2691+5G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2691+5G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-21
1 3334382 . A G . . START=3334382;STOP=3334382;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390108;RCV=RCV000434063|RCV000457891;SCV=SCV000532849|SCV000556963;ALLELE_ID=365235;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2692-10A>G;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2692-10A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_19..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-10-19|2016-06-21
1 3334441 . T C . . START=3334441;STOP=3334441;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241427;RCV=RCV000229654|RCV000493075;SCV=SCV000290649|SCV000582942;ALLELE_ID=238275;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2741T>C;HGVS_P=NP_071397.3:p.Met914Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2741T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_14..2016;ALL_SUBMITTERS=Invitae..|GeneDx;SUBMITTERS_ORDERED=Invitae..|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2015-12-17|2016-12-14
1 3334447 . C T . . START=3334447;STOP=3334447;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=218791;RCV=RCV000203205;SCV=SCV000258183;ALLELE_ID=215209;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2747C>T;HGVS_P=NP_071397.3:p.Ala916Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2747C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_12..2015;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|Not_specified;ORIGIN=unknown;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-12
1 3334480 . A C . . START=3334480;STOP=3334480;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373755;RCV=RCV000413206;SCV=SCV000492376;ALLELE_ID=359242;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2780A>C;HGVS_P=NP_071397.3:p.His927Pro;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2780A>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_09..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-09
1 3334486 . C A . . START=3334486;STOP=3334486;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229165;RCV=RCV000219521;SCV=SCV000577100|SCV000272329;ALLELE_ID=228454;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2786C>A;HGVS_P=NP_071397.3:p.Pro929His;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2786C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Apr_11..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-21|2017-04-11
1 3334493 . C T . . START=3334493;STOP=3334493;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227032;RCV=RCV000219295|RCV000233639;SCV=SCV000531702|SCV000269729|SCV000290650;ALLELE_ID=228455;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2793C>T;HGVS_P=NP_071397.3:p.Asn931_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2793C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-10-10|2017-01-18
1 3334505 . A ACC . . START=3334509;STOP=3334510;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229166;RCV=RCV000221072;SCV=SCV000272330;ALLELE_ID=228456;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2809_2810dupCC;HGVS_P=NP_071397.3:p.Thr938Glnfs;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2809_2810dupCC:frameshift_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_02..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-02
1 3334509 . C G . . START=3334509;STOP=3334509;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406243;RCV=RCV000475724;SCV=SCV000544795;ALLELE_ID=391199;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2809C>G;HGVS_P=NP_071397.3:p.Pro937Ala;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2809C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_30..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-30
1 3334513 . C T . . START=3334513;STOP=3334513;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406242;RCV=RCV000471782;SCV=SCV000544794;ALLELE_ID=391196;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2813C>T;HGVS_P=NP_071397.3:p.Thr938Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2813C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_02..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-08-02
1 3334515 . C G . . START=3334515;STOP=3334515;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373801;RCV=RCV000414615|RCV000474992;SCV=SCV000492424|SCV000556974;ALLELE_ID=359349;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2815C>G;HGVS_P=NP_071397.3:p.Leu939Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2815C>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_14..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-14|2016-05-22
1 3334556 . G A . . START=3334556;STOP=3334556;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227867;RCV=RCV000219939;SCV=SCV000270757;ALLELE_ID=228457;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2856G>A;HGVS_P=NP_071397.3:p.Thr952_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2856G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_21..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-21
1 3342127 . C T . . START=3342127;STOP=3342127;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392369;RCV=RCV000419766;SCV=SCV000535630;ALLELE_ID=365132;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2940-18C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2940-18C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_05..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-05
1 3342128 . G A . . START=3342128;STOP=3342128;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386315;RCV=RCV000441639;SCV=SCV000527895;ALLELE_ID=365137;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2940-17G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2940-17G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_28..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-28
1 3342130 . G A . . START=3342130;STOP=3342130;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229167;RCV=RCV000214743;SCV=SCV000272331;ALLELE_ID=228458;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2940-15G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2940-15G>A:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_23..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-23
1 3342158 . G A . . START=3342158;STOP=3342158;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373270;RCV=RCV000413640;SCV=SCV000491853;ALLELE_ID=359356;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2953G>A;HGVS_P=NP_071397.3:p.Asp985Asn;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2953G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-21
1 3342307 . C T . . START=3342307;STOP=3342307;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241428;RCV=RCV000226908|RCV000444388;SCV=SCV000290651|SCV000521409;ALLELE_ID=238276;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3102C>T;HGVS_P=NP_071397.3:p.Asn1034_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3102C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_23..2017;ALL_SUBMITTERS=Invitae..|GeneDx;SUBMITTERS_ORDERED=Invitae..|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2016-10-08|2017-06-23
1 3342324 . G A . . START=3342324;STOP=3342324;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227033;RCV=RCV000223403|RCV000460045;SCV=SCV000269730|SCV000529354|SCV000556969;ALLELE_ID=228459;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3109+10G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3109+10G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-12-05|2017-01-18
1 3342326 . G C . . START=3342326;STOP=3342326;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227868;RCV=RCV000213653;SCV=SCV000270758|SCV000525750;ALLELE_ID=228460;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3109+12G>C;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3109+12G>C:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_27..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-08|2016-10-27
1 3342611 . G A . . START=3342611;STOP=3342611;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227869;RCV=RCV000217996|RCV000465584;SCV=SCV000270759|SCV000556967;ALLELE_ID=228461;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3110-4G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3110-4G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-04-16|2016-07-15
1 3342629 . G A . . START=3342629;STOP=3342629;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426514;RCV=RCV000490016;SCV=SCV000576974;ALLELE_ID=414796;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3124G>A;HGVS_P=NP_071397.3:p.Gly1042Arg;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3124G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_13..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-04-13
1 3342634 . C T . . START=3342634;STOP=3342634;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241429;RCV=RCV000230873;SCV=SCV000290652;ALLELE_ID=238277;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3129C>T;HGVS_P=NP_071397.3:p.Val1043_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3129C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_25..2015;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-11-25
1 3342635 . C T . . START=3342635;STOP=3342635;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227034;RCV=RCV000215790|RCV000232612;SCV=SCV000269731|SCV000528022|SCV000290653;ALLELE_ID=228462;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3130C>T;HGVS_P=NP_071397.3:p.Leu1044Phe;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3130C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_27..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-12-27|2016-04-16
1 3342640 . G A . . START=3342640;STOP=3342640;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227870;RCV=RCV000220998;SCV=SCV000270760;ALLELE_ID=228463;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3135G>A;HGVS_P=NP_071397.3:p.Thr1045_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3135G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_06..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-06
1 3342644 . C A . . START=3342644;STOP=3342644;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423292;RCV=RCV000486279;SCV=SCV000572969;ALLELE_ID=405163;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3139C>A;HGVS_P=NP_071397.3:p.His1047Asn;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3139C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_06..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-06
1 3342774 . C T . . START=3342774;STOP=3342774;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241430;RCV=RCV000227583;SCV=SCV000290654;ALLELE_ID=238278;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3269C>T;HGVS_P=NP_071397.3:p.Thr1090Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3269C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_12..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-03-12
1 3342775 . G A . . START=3342775;STOP=3342775;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413871;RCV=RCV000458810;SCV=SCV000556983;ALLELE_ID=391340;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3270G>A;HGVS_P=NP_071397.3:p.Thr1090_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3270G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-10-26
1 3342804 . G T . . START=3342804;STOP=3342804;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227035;RCV=RCV000218772;SCV=SCV000520303|SCV000269732;ALLELE_ID=228464;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3284+15G>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3284+15G>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04|2016-09-23
1 3347452 . G A . . START=3347452;STOP=3347452;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60727;RCV=RCV000054521|RCV000204421|RCV000223010;SCV=SCV000082999|SCV000262005|SCV000269733;ALLELE_ID=75287;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3301G>A;HGVS_P=NP_071397.3:p.Val1101Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3301G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Dec_02..2016;ALL_SUBMITTERS=OMIM|Invitae..|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=OMIM|Invitae..|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Dilated_cardiomyopathy_1LL|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE|Left_ventricular_noncompaction_8|not_specified|Not_specified;ALL_PMIDS=23768516|27535533|24033266;ORIGIN=germline;XREFS=MedGen:CN178850|OMIM:615373|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2013-07-11|2015-10-31|2015-04-29
1 3347514 . G GGAC . . START=3347520;STOP=3347522;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413868;RCV=RCV000475206;SCV=SCV000556977;ALLELE_ID=391341;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3369_3371dupCGA;HGVS_P=NP_071397.3:p.Asp1125_Leu1126insAsp;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_14..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-14
1 3347517 . C T . . START=3347517;STOP=3347517;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227871;RCV=RCV000213381;SCV=SCV000270761;ALLELE_ID=228465;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3366C>T;HGVS_P=NP_071397.3:p.Asp1122_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3366C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_13..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-08-13
1 3347520 . C T . . START=3347520;STOP=3347520;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227036;RCV=RCV000216881|RCV000230406;SCV=SCV000529327|SCV000269734|SCV000290655;ALLELE_ID=228466;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3369C>T;HGVS_P=NP_071397.3:p.Asp1123_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3369C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_06..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-10-06|2016-09-16
1 3347593 . G A . . START=3347593;STOP=3347593;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406233;RCV=RCV000460254;SCV=SCV000544784;ALLELE_ID=391240;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3442G>A;HGVS_P=NP_071397.3:p.Glu1148Lys;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3442G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_18..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-18
1 3347595 . G A . . START=3347595;STOP=3347595;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413862;RCV=RCV000464489;SCV=SCV000556964;ALLELE_ID=391206;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3444G>A;HGVS_P=NP_071397.3:p.Glu1148_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3444G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_30..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-08-30
1 3347605 . G A . . START=3347605;STOP=3347605;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406235;RCV=RCV000473925;SCV=SCV000544786;ALLELE_ID=391207;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3454G>A;HGVS_P=NP_071397.3:p.Ala1152Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3454G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_16..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-08-16
1 3348629 . A T . . START=3348629;STOP=3348629;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241431;RCV=RCV000234393;SCV=SCV000290656;ALLELE_ID=238279;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3621A>T;HGVS_P=NP_071397.3:p.Glu1207Asp;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3621A>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_24..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-02-24
1 3348695 . T C . . START=3348695;STOP=3348695;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227037;RCV=RCV000219826;SCV=SCV000269735|SCV000533646;ALLELE_ID=228467;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3687T>C;HGVS_P=NP_071397.3:p.Ala1229_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3687T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Nov_11..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-24|2016-11-11
1 3348715 . G A . . START=3348715;STOP=3348715;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390334;RCV=RCV000438994;SCV=SCV000533136;ALLELE_ID=365138;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3696+11G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3696+11G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_25..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-25