Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_004100.5(EYA4):c.-445C>T | 2070 | EYA4 | Benign/Likely benign | 112196731 | RCV001152574|RCV001152575; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133562508 | 133562508 | | | 6:g.133562508C>T | - | | |
NM_004100.5(EYA4):c.-430T>C | 2070 | EYA4 | Uncertain significance | 886061084 | RCV000265035|RCV000320010; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133562523 | 133562523 | | | NC_000006.11:g.133562523T>C | ClinGen:CA10621456 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.-408G>T | 2070 | EYA4 | Uncertain significance | 886061085 | RCV000261328|RCV000374604; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133562545 | 133562545 | | | NC_000006.11:g.133562545G>T | ClinGen:CA10625817 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.-356T>C | 2070 | EYA4 | Benign/Likely benign | 375432060 | RCV000316592|RCV000389537; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133562597 | 133562597 | | | NC_000006.11:g.133562597T>C | ClinGen:CA10621457 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.-326C>G | 2070 | EYA4 | Benign/Likely benign | 117602794 | RCV001153853|RCV001153854; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133562627 | 133562627 | | | 6:g.133562627C>G | - | | |
NM_004100.5(EYA4):c.-256C>T | 2070 | EYA4 | Uncertain significance | 886061086 | RCV000295160|RCV000350033; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133562697 | 133562697 | | | NC_000006.11:g.133562697C>T | ClinGen:CA10621461 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.-244C>G | 2070 | EYA4 | Benign/Likely benign | 112173873 | RCV001156483|RCV001156484; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133562709 | 133562709 | | | 6:g.133562709C>G | - | | |
NM_004100.5(EYA4):c.-124C>T | 2070 | EYA4 | Uncertain significance | 886061088 | RCV000346740|RCV000407884; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133562829 | 133562829 | | | NC_000006.11:g.133562829C>T | ClinGen:CA10621463 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.-76C>T | 2070 | EYA4 | Benign | 78081370 | RCV000307043|RCV000341578; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133562877 | 133562877 | | | NC_000006.11:g.133562877C>T | ClinGen:CA10625987 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu) | 2070 | EYA4 | Uncertain significance | 1394230343 | RCV001321905|RCV002493681; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133595950 | 133595950 | | | 133595950 | - | | |
NM_004100.5(EYA4):c.83+5A>G | 2070 | EYA4 | Uncertain significance | 1060502995 | RCV000460020|RCV002480422; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133703584 | 133703584 | | | NC_000006.11:g.133703584A>G | ClinGen:CA16611947 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.103C>T (p.Leu35=) | 2070 | EYA4 | Benign/Likely benign | 35562371 | RCV000037877|RCV000475116|RCV001158148|RCV001642561; | N | MedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133767787 | 133767787 | | | NC_000006.11:g.133767787C>T | ClinGen:CA135000 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.111T>C (p.Ser37=) | 2070 | EYA4 | Benign/Likely benign | 35863035 | RCV000037878|RCV000470524|RCV001158149|RCV001650869; | N | MedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133767795 | 133767795 | | | NC_000006.11:g.133767795T>C | ClinGen:CA135002 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) | 2070 | EYA4 | Uncertain significance | 932450184 | RCV000802309|RCV002388487|RCV002487700; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133767832 | 133767832 | | | 6:g.133767832A>T | - | | |
NM_004100.5(EYA4):c.182C>T (p.Thr61Ile) | 2070 | EYA4 | Uncertain significance | 778473535 | RCV000301901|RCV000390693|RCV001753829; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN517202 | 6 | 133767866 | 133767866 | | | NC_000006.11:g.133767866C>T | ClinGen:CA4007969 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 200042576 | RCV001872716|RCV002425150|RCV002503445; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133769253 | 133769253 | | | 133769253 | - | | |
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg) | 2070 | EYA4 | Uncertain significance | 201644472 | RCV000171943|RCV001297172|RCV002492715; | N | MedGen:CN517202|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133769273 | 133769273 | | | NC_000006.11:g.133769273C>G | ClinGen:CA237182 | CN517202 not provided; | |
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) | 2070 | EYA4 | Uncertain significance | 727503050 | RCV000150679|RCV000699690|RCV002453484|RCV003224172; | N | MedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133769303 | 133769303 | | | 6:g.133769303C>G | ClinGen:CA176091 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.344G>C (p.Gly115Ala) | 2070 | EYA4 | Uncertain significance | 1793929707 | RCV001158150|RCV001158151; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133777760 | 133777760 | | | 6:g.133777760G>C | - | | |
NM_004100.5(EYA4):c.347C>T (p.Ala116Val) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 747223436 | RCV000261665|RCV000853008|RCV001069099|RCV002338948; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|EFO:EFO_0005306,Human Phenotype Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514; Human Phenotype Ontology:HP:0001635,Human Phenotype Ontology:HP:0006686,MONDO:MONDO:0005009,MedGen:C00 | 6 | 133777763 | 133777763 | | | NC_000006.11:g.133777763C>T | ClinGen:CA4008017 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.370+16C>T | 2070 | EYA4 | Benign/Likely benign | 376239950 | RCV001553624|RCV002072067|RCV002506661; | N | MedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133777802 | 133777802 | | | 133777802 | - | | |
NM_004100.5(EYA4):c.438-15T>C | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 752763979 | RCV001152681|RCV001152682|RCV003235480; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN169374 | 6 | 133783458 | 133783458 | | | 6:g.133783458T>C | - | | |
NM_004100.5(EYA4):c.441del (p.Tyr148fs) | 2070 | EYA4 | Pathogenic | 878853223 | RCV000225045; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133783474 | 133783474 | | | NC_000006.11:g.133783476del | ClinGen:CA10581503 | C1832476 601316 Deafness, autosomal dominant 10; | |
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter) | 2070 | EYA4 | Likely pathogenic | 1794473050 | RCV001262651; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133783507 | 133783507 | | | 6:g.133783507C>T | - | | |
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) | 2070 | EYA4 | Uncertain significance | 776409783 | RCV000219004|RCV001210168|RCV002347842|RCV002463664|RCV002500711; | N | MedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:6053 | 6 | 133783564 | 133783564 | | | 6:g.133783564G>A | ClinGen:CA4008088 | CN169374 not specified; | |
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu) | 2070 | EYA4 | Uncertain significance | 769220102 | RCV001952036|RCV002281200|RCV002491901; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C3661900|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133783864 | 133783864 | | | 133783864 | - | | |
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 143757415 | RCV000469324|RCV001580498|RCV002393147|RCV003224289|RCV003317224; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN169374 | 6 | 133785941 | 133785941 | | | NC_000006.11:g.133785941C>A | ClinGen:CA4008143 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.783G>A (p.Thr261=) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 17854076 | RCV000037881|RCV000250291|RCV000468914|RCV001152683|RCV001529775; | N | MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133785975 | 133785975 | | | 6:g.133785975G>A | ClinGen:CA135009 | CN230736 Cardiovascular phenotype; | |
NM_004100.5(EYA4):c.804+2del | 2070 | EYA4 | Pathogenic | 2128665075 | RCV001823261; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133785998 | 133785998 | | | 133785997 | - | | |
NM_004100.5(EYA4):c.804+2T>A | 2070 | EYA4 | Pathogenic | 2128665071 | RCV001823238; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133785998 | 133785998 | | | 133785998 | - | | |
NM_004100.5(EYA4):c.824C>T (p.Ala275Val) | 2070 | EYA4 | Uncertain significance | 748654006 | RCV001755479|RCV001868670|RCV002477993; | N | MedGen:C3661900|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133789723 | 133789723 | | | 133789723 | - | | |
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) | 2070 | EYA4 | Benign/Likely benign | 9493627 | RCV000037882|RCV000247179|RCV000276894|RCV000332466|RCV002490514; | N | MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C18 | 6 | 133789728 | 133789728 | | | 6:g.133789728G>A | ClinGen:CA135011,UniProtKB:O95677#VAR_022932 | CN230736 Cardiovascular phenotype; | |
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) | 2070 | EYA4 | Uncertain significance | 374522988 | RCV001051621|RCV001152684|RCV001759784|RCV002445271|RCV002479320; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C18 | 6 | 133789759 | 133789759 | | | 6:g.133789759C>T | - | | |
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 41286200 | RCV000150681|RCV000171945|RCV000387022|RCV001080380|RCV002444614; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736 | 6 | 133789765 | 133789765 | | | 6:g.133789765C>T | ClinGen:CA176093 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.888G>A (p.Ser296=) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 768010410 | RCV000328938|RCV000383320|RCV000621069|RCV001530072; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN230736|MedGen:C3661900 | 6 | 133789787 | 133789787 | | | NC_000006.11:g.133789787G>A | ClinGen:CA4008180 | CN230736 Cardiovascular phenotype; | |
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 757252384 | RCV000871588|RCV001153958|RCV002442862; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN230736 | 6 | 133789798 | 133789798 | | | 6:g.133789798C>A | - | | |
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) | 2070 | EYA4 | Benign/Likely benign | 75133151 | RCV000150682|RCV000228363|RCV000617375|RCV000853009|RCV001153959|RCV001812120; | N | MedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet | 6 | 133789804 | 133789804 | | | 6:g.133789804G>A | ClinGen:CA176095 | CN230736 Cardiovascular phenotype; | |
NM_004100.5(EYA4):c.964C>T (p.Gln322Ter) | 2070 | EYA4 | Pathogenic | 2128674939 | RCV001822876; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133789863 | 133789863 | | | 133789863 | - | | |
NM_004100.5(EYA4):c.970+5A>G | 2070 | EYA4 | Uncertain significance | 886061089 | RCV000288938|RCV000343964; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133789874 | 133789874 | | | NC_000006.11:g.133789874A>G | ClinGen:CA10625991 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) | 2070 | EYA4 | Uncertain significance | 773095472 | RCV000171948|RCV000699926|RCV001154813|RCV002372072|RCV002492716; | N | MedGen:CN517202|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN230736|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C185 | 6 | 133802608 | 133802608 | | | NC_000006.11:g.133802608C>G | ClinGen:CA237190 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 146144708 | RCV000226170|RCV000379916|RCV000825759|RCV001553053|RCV002378994; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736 | 6 | 133802617 | 133802617 | | | NC_000006.11:g.133802617G>T | ClinGen:CA4008218 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.992dup (p.Ser331fs) | 2070 | EYA4 | Pathogenic | -1 | RCV003155548; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133802621 | 133802622 | | | | - | | |
NM_004100.5(EYA4):c.1026_1027dup (p.Thr343fs) | 2070 | EYA4 | Pathogenic | 2128707546 | RCV002279737; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133802655 | 133802656 | | | 133802655 | OMIM:603550.0001 | | |
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 140170914 | RCV000172547|RCV000223647|RCV000340736|RCV000619332|RCV001085733; | N | MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN230736|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133802665 | 133802665 | | | 6:g.133802665G>C | ClinGen:CA238391 | CN230736 Cardiovascular phenotype; | |
NM_004100.5(EYA4):c.1048_1049dup (p.Arg352fs) | 2070 | EYA4 | Pathogenic | 2128707619 | RCV001804164; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133802676 | 133802677 | | | 133802676 | OMIM:603550.0004 | | |
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln) | 2070 | EYA4 | Uncertain significance | 762144530 | RCV002027823|RCV002290841|RCV002479816; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C3661900|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133802697 | 133802697 | | | 133802697 | - | | |
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) | 2070 | EYA4 | Uncertain significance | 1168354526 | RCV000601759|RCV001584423|RCV001854147|RCV002491236; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133802715 | 133802715 | | | 6:g.133802715C>T | ClinGen:CA365706540 | CN169374 not specified; | |
NM_004100.5(EYA4):c.1107+10C>G | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 752586864 | RCV000301007|RCV000555721|RCV001778937; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN169374 | 6 | 133802747 | 133802747 | | | NC_000006.11:g.133802747C>G | ClinGen:CA4008240 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.1107+13A>C | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 775989680 | RCV001158270|RCV001158271; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133802750 | 133802750 | | | 6:g.133802750A>C | - | | |
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 143936434 | RCV000150686|RCV000641934|RCV000770770|RCV002426713; | N | MedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN230736 | 6 | 133804171 | 133804171 | | | 6:g.133804171G>A | ClinGen:CA176102 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter) | 2070 | EYA4 | Pathogenic | 2128711268 | RCV001580605; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133804216 | 133804216 | | | 133804216 | - | | |
NM_004100.5(EYA4):c.1181A>G (p.Lys394Arg) | 2070 | EYA4 | Uncertain significance | 1796360086 | RCV001158272|RCV001158273; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133804243 | 133804243 | | | 6:g.133804243A>G | - | | |
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) | 2070 | EYA4 | Uncertain significance | 760787542 | RCV000216686|RCV001853452|RCV002363074|RCV002470821|RCV003144165; | N | MedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN517202 | 6 | 133827275 | 133827275 | | | 6:g.133827275G>A | ClinGen:CA4008303 | CN169374 not specified; | |
NM_004100.5(EYA4):c.1282-12T>A | 2070 | EYA4 | Pathogenic | 2128781753 | RCV000006618; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133833847 | 133833847 | | | NC_000006.11:g.133833847T>A | OMIM:603550.0005 | C1832476 601316 Deafness, autosomal dominant 10; | |
NM_004100.5(EYA4):c.1338A>G (p.Leu446=) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 200309400 | RCV000297687|RCV000406234|RCV001529573; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C3661900 | 6 | 133833915 | 133833915 | | | NC_000006.11:g.133833915A>G | ClinGen:CA4008337 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter) | 2070 | EYA4 | Likely pathogenic | 1562505728 | RCV000761235; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133834022 | 133834022 | | | NC_000006.11:g.133834022C>G | - | | |
NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn) | 2070 | EYA4 | Uncertain significance | 1321644184 | RCV000814608|RCV002487785; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133834033 | 133834033 | | | 6:g.133834033C>A | - | | |
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 146977269 | RCV000155091|RCV000171950|RCV001083900|RCV001152797|RCV002390350; | N | MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN230736 | 6 | 133834093 | 133834093 | | | 6:g.133834093G>T | ClinGen:CA182150 | C1854368 605362 Dilated cardiomyopathy 1J; | |
NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter) | 2070 | EYA4 | Likely pathogenic | 1305000119 | RCV002251117; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133834143 | 133834143 | | | 133834143 | - | | |
NM_004100.5(EYA4):c.1494C>T (p.Asn498=) | 2070 | EYA4 | Likely benign | 748934740 | RCV002099515|RCV002391147|RCV002494002; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133834169 | 133834169 | | | 133834169 | - | | |
NM_004100.5(EYA4):c.1617-13C>G | 2070 | EYA4 | Benign/Likely benign | 756045097 | RCV002132463|RCV002500042; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133844181 | 133844181 | | | 133844181 | - | | |
NM_004100.5(EYA4):c.1617-11C>T | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 118166702 | RCV000214315|RCV001152798|RCV001152799|RCV001577115; | N | MedGen:CN169374|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C3661900 | 6 | 133844183 | 133844183 | | | NC_000006.11:g.133844183C>T | ClinGen:CA4008423 | CN169374 not specified; | |
NM_004100.5(EYA4):c.1720_1722delinsAAA (p.Tyr574Lys) | 2070 | EYA4 | Pathogenic | 1800334076 | RCV001004794; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133844297 | 133844299 | | | NC_000006.11:g.133844297_133844299delinsAAA | - | | |
NM_004100.5(EYA4):c.1739-64G>A | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 143208937 | RCV000150689|RCV000172548|RCV000276566|RCV000313007; | N | MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133846228 | 133846228 | | | 6:g.133846228G>A | ClinGen:CA176107 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.1739-1G>A | 2070 | EYA4 | Likely pathogenic | 797045088 | RCV000190582|RCV001378781|RCV002399708|RCV003401039; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736| | 6 | 133846291 | 133846291 | | | 6:g.133846291G>A | ClinGen:CA275997 | C1832476 601316 Deafness, autosomal dominant 10; | |
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter) | 2070 | EYA4 | Pathogenic | 1554275988 | RCV000627227|RCV001807645|RCV002529807; | N | MedGen:CN517202|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133846312 | 133846312 | | | 6:g.133846312C>T | ClinGen:CA365700536,OMIM:603550.0002 | CN517202 not provided; | |
NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln) | 2070 | EYA4 | Uncertain significance | 1173508611 | RCV001907709|RCV002482534; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133846375 | 133846375 | | | 133846375 | - | | |
NM_004100.5(EYA4):c.1840-16T>G | 2070 | EYA4 | Likely benign | 1039495587 | RCV002188835|RCV002500416; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133849847 | 133849847 | | | 133849847 | - | | |
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) | 2070 | EYA4 | Benign/Likely benign | 142721902 | RCV000037879|RCV000204942|RCV000252121|RCV001154070|RCV001528749; | N | MedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133849868 | 133849868 | | | 6:g.133849868C>T | ClinGen:CA135004 | C0878544 Cardiomyopathy; | |
NM_004100.5(EYA4):c.*15C>T | 2070 | EYA4 | Uncertain significance | 773904240 | RCV001154071|RCV001154072; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133849958 | 133849958 | | | 6:g.133849958C>T | - | | |
NM_004100.5(EYA4):c.*23C>T | 2070 | EYA4 | Benign | 3734279 | RCV000271143|RCV000367720|RCV001540922; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133849966 | 133849966 | | | NC_000006.11:g.133849966C>T | ClinGen:CA4008520 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*222G>A | 2070 | EYA4 | Uncertain significance | 998303327 | RCV001154074|RCV001154073; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133850165 | 133850165 | | | 6:g.133850165G>A | - | | |
NM_004100.5(EYA4):c.*265G>A | 2070 | EYA4 | Uncertain significance | 983068379 | RCV001154075|RCV001154912; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133850208 | 133850208 | | | 6:g.133850208G>A | - | | |
NM_004100.5(EYA4):c.*308G>T | 2070 | EYA4 | Uncertain significance | 999799440 | RCV001154913|RCV001154914; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133850251 | 133850251 | | | 6:g.133850251G>T | - | | |
NM_004100.5(EYA4):c.*333G>A | 2070 | EYA4 | Uncertain significance | 746964933 | RCV000328527|RCV000362213; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133850276 | 133850276 | | | NC_000006.11:g.133850276G>A | ClinGen:CA10625993 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*347T>C | 2070 | EYA4 | Uncertain significance | 1434297565 | RCV001154915|RCV001154916; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133850290 | 133850290 | | | 6:g.133850290T>C | - | | |
NM_004100.5(EYA4):c.*379C>A | 2070 | EYA4 | Uncertain significance | 1025660001 | RCV001154917|RCV001156582; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133850322 | 133850322 | | | 6:g.133850322C>A | - | | |
NM_004100.5(EYA4):c.*566G>T | 2070 | EYA4 | Uncertain significance | 1800870215 | RCV001156583|RCV001156584; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133850509 | 133850509 | | | 6:g.133850509G>T | - | | |
NM_004100.5(EYA4):c.*633G>A | 2070 | EYA4 | Uncertain significance | 996978211 | RCV001156585|RCV001156586; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133850576 | 133850576 | | | 6:g.133850576G>A | - | | |
NM_004100.5(EYA4):c.*726C>A | 2070 | EYA4 | Benign | 55805978 | RCV000269831|RCV000322613; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133850669 | 133850669 | | | NC_000006.11:g.133850669C>A | ClinGen:CA10621469 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*732A>G | 2070 | EYA4 | Uncertain significance | 902919934 | RCV001152904|RCV001156587|RCV002491445; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133850675 | 133850675 | | | 6:g.133850675A>G | - | | |
NM_004100.5(EYA4):c.*756A>G | 2070 | EYA4 | Uncertain significance | 1800887681 | RCV001152906|RCV001152905; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133850699 | 133850699 | | | 6:g.133850699A>G | - | | |
NM_004100.5(EYA4):c.*1264T>A | 2070 | EYA4 | Benign | 9483585 | RCV000278928|RCV000336348|RCV001594988; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C3661900 | 6 | 133851207 | 133851207 | | | NC_000006.11:g.133851207T>A | ClinGen:CA10621471 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*1346C>T | 2070 | EYA4 | Uncertain significance | 772550313 | RCV001152907|RCV001152908; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851289 | 133851289 | | | 6:g.133851289C>T | - | | |
NM_004100.5(EYA4):c.*1350G>A | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 553570769 | RCV000296646|RCV000392875; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851293 | 133851293 | | | NC_000006.11:g.133851293G>A | ClinGen:CA10622998 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*1363G>A | 2070 | EYA4 | Uncertain significance | 539858245 | RCV001154189|RCV001154190; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851306 | 133851306 | | | 6:g.133851306G>A | - | | |
NM_004100.5(EYA4):c.*1434A>G | 2070 | EYA4 | Benign | 9483586 | RCV000348936|RCV000392876|RCV001636983; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C3661900 | 6 | 133851377 | 133851377 | | | NC_000006.11:g.133851377A>G | ClinGen:CA10621476 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*1440C>A | 2070 | EYA4 | Uncertain significance | 1251468796 | RCV001154191|RCV001155023; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851383 | 133851383 | | | 6:g.133851383C>A | - | | |
NM_004100.5(EYA4):c.*1484C>T | 2070 | EYA4 | Benign/Likely benign | 116238383 | RCV001155024|RCV001155025|RCV001843567; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C3661900 | 6 | 133851427 | 133851427 | | | 6:g.133851427C>T | - | | |
NM_004100.5(EYA4):c.*1513T>C | 2070 | EYA4 | Uncertain significance | 886061092 | RCV000309148|RCV000366196; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851456 | 133851456 | | | NC_000006.11:g.133851456T>C | ClinGen:CA10623005 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*1532G>A | 2070 | EYA4 | Uncertain significance | 776008831 | RCV001155027|RCV001155026|RCV002497581; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851475 | 133851475 | | | 6:g.133851475G>A | - | | |
NM_004100.5(EYA4):c.*1551G>T | 2070 | EYA4 | Uncertain significance | 895041455 | RCV001155028|RCV001156681|RCV002483898; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851494 | 133851494 | | | 6:g.133851494G>T | - | | |
NM_004100.5(EYA4):c.*1600G>A | 2070 | EYA4 | Uncertain significance | 998755605 | RCV001156682|RCV001156683; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133851543 | 133851543 | | | 6:g.133851543G>A | - | | |
NM_004100.5(EYA4):c.*1658C>T | 2070 | EYA4 | Benign | 73546865 | RCV000308153|RCV000406128|RCV001692024; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133851601 | 133851601 | | | NC_000006.11:g.133851601C>T | ClinGen:CA10626005 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*1744G>A | 2070 | EYA4 | Uncertain significance | 542230437 | RCV000268309|RCV000360645; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133851687 | 133851687 | | | NC_000006.11:g.133851687G>A | ClinGen:CA10621477 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*1770T>C | 2070 | EYA4 | Uncertain significance | 765287346 | RCV001151229|RCV001156684; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851713 | 133851713 | | | 6:g.133851713T>C | - | | |
NM_004100.5(EYA4):c.*1812G>T | 2070 | EYA4 | Uncertain significance | 555600336 | RCV000320566|RCV000359028; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133851755 | 133851755 | | | NC_000006.11:g.133851755G>T | ClinGen:CA10621478 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*1820A>T | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 184735364 | RCV001151230|RCV001151231; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851763 | 133851763 | | | 6:g.133851763A>T | - | | |
NM_004100.5(EYA4):c.*1867C>T | 2070 | EYA4 | Benign | 17053540 | RCV000261738|RCV000319240|RCV001643076; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133851810 | 133851810 | | | NC_000006.11:g.133851810C>T | ClinGen:CA10626012 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*1905T>A | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 542036379 | RCV000279343|RCV000371548; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133851848 | 133851848 | | | NC_000006.11:g.133851848T>A | ClinGen:CA10626013 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*1943C>T | 2070 | EYA4 | Uncertain significance | 150567885 | RCV001154302|RCV001154301|RCV002483897; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851886 | 133851886 | | | 6:g.133851886C>T | - | | |
NM_004100.5(EYA4):c.*2010A>G | 2070 | EYA4 | Uncertain significance | 886061093 | RCV000331926|RCV000388839; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133851953 | 133851953 | | | 6:g.133851953A>G | ClinGen:CA10621481 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2044A>G | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 59167148 | RCV001154303|RCV001154304|RCV001840785; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133851987 | 133851987 | | | 6:g.133851987A>G | - | | |
NM_004100.5(EYA4):c.*2049T>C | 2070 | EYA4 | Uncertain significance | 752513150 | RCV001154305|RCV001155137|RCV002491448; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133851992 | 133851992 | | | 6:g.133851992T>C | - | | |
NM_004100.5(EYA4):c.*2108A>G | 2070 | EYA4 | Benign | 17053541 | RCV000292633|RCV000349866|RCV001618644; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C3661900 | 6 | 133852051 | 133852051 | | | 6:g.133852051A>G | ClinGen:CA10625833 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2184A>T | 2070 | EYA4 | Benign | 17053542 | RCV000291515|RCV000408346|RCV001683412; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133852127 | 133852127 | | | 6:g.133852127A>T | ClinGen:CA10621482 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2188T>A | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 376366555 | RCV000343879|RCV000408315; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133852131 | 133852131 | | | 6:g.133852131T>A | ClinGen:CA10621483 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2269C>T | 2070 | EYA4 | Uncertain significance | 533609774 | RCV000304382|RCV000361377; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133852212 | 133852212 | | | 6:g.133852212C>T | ClinGen:CA10623013 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2302G>A | 2070 | EYA4 | Benign/Likely benign | 41286208 | RCV000299898|RCV000401905|RCV001778938; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133852245 | 133852245 | | | 6:g.133852245G>A | ClinGen:CA10625834 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2359C>T | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 547907467 | RCV000259870|RCV000356947; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133852302 | 133852302 | | | 6:g.133852302C>T | ClinGen:CA4008531 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2360G>A | 2070 | EYA4 | Uncertain significance | 886061094 | RCV000298805|RCV000369868; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133852303 | 133852303 | | | 6:g.133852303G>A | ClinGen:CA10623015 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2377C>T | 2070 | EYA4 | Uncertain significance | 1205497819 | RCV001151357|RCV001156800; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133852320 | 133852320 | | | 6:g.133852320C>T | - | | |
NM_004100.5(EYA4):c.*2439G>A | 2070 | EYA4 | Uncertain significance | 1298238435 | RCV001151358|RCV001151359; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133852382 | 133852382 | | | 6:g.133852382G>A | - | | |
NM_004100.5(EYA4):c.*2511G>A | 2070 | EYA4 | Uncertain significance | 560590444 | RCV000271230|RCV000387327|RCV002487562; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133852454 | 133852454 | | | 6:g.133852454G>A | ClinGen:CA10623016 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2588C>T | 2070 | EYA4 | Conflicting interpretations of pathogenicity | 140401218 | RCV000328568|RCV000380842|RCV003430919; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C3661900 | 6 | 133852531 | 133852531 | | | NC_000006.11:g.133852531C>T | ClinGen:CA10623017 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2660T>C | 2070 | EYA4 | Uncertain significance | 886061096 | RCV000288688|RCV000341364; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133852603 | 133852603 | | | NC_000006.11:g.133852603T>C | ClinGen:CA10621492 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2685T>A | 2070 | EYA4 | Benign/Likely benign | 41286210 | RCV001154400|RCV001154399|RCV001779122; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C3661900 | 6 | 133852628 | 133852628 | | | 6:g.133852628T>A | - | | |
NM_004100.5(EYA4):c.*2750C>A | 2070 | EYA4 | Uncertain significance | 886061097 | RCV000282789|RCV000379532; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133852693 | 133852693 | | | NC_000006.11:g.133852693C>A | ClinGen:CA10626032 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2759G>A | 2070 | EYA4 | Uncertain significance | 886061098 | RCV000341123|RCV000392266; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133852702 | 133852702 | | | NC_000006.11:g.133852702G>A | ClinGen:CA10625836 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*2799C>A | 2070 | EYA4 | Likely benign | 143596676 | RCV001779638|RCV002503258; | N | MedGen:C3661900|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133852742 | 133852742 | | | 133852742 | - | | |
NM_004100.5(EYA4):c.*2918G>A | 2070 | EYA4 | Benign/Likely benign | 75986250 | RCV001154401|RCV001155235|RCV002497579; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133852861 | 133852861 | | | 6:g.133852861G>A | - | | |
NM_004100.5(EYA4):c.*2968T>A | 2070 | EYA4 | Benign/Likely benign | 181492427 | RCV000301474|RCV000335410; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133852911 | 133852911 | | | NC_000006.11:g.133852911T>A | ClinGen:CA10623020 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*3014T>C | 2070 | EYA4 | Benign/Likely benign | 76510133 | RCV000314341|RCV000405795; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133852957 | 133852957 | | | NC_000006.11:g.133852957T>C | ClinGen:CA10626033 | CN239310 Dilated Cardiomyopathy, Dominant; | |
NM_004100.5(EYA4):c.*3121A>G | 2070 | EYA4 | Uncertain significance | 755881972 | RCV001155237|RCV001155236; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133853064 | 133853064 | | | 6:g.133853064A>G | - | | |
NM_004100.5(EYA4):c.*3132C>T | 2070 | EYA4 | Uncertain significance | 1801031145 | RCV001155238|RCV001156893; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133853075 | 133853075 | | | 6:g.133853075C>T | - | | |
NM_004100.5(EYA4):c.*3160C>T | 2070 | EYA4 | Uncertain significance | 1801032975 | RCV001156894|RCV001156895; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133853103 | 133853103 | | | 6:g.133853103C>T | - | | |
NM_004100.5(EYA4):c.*3211T>G | 2070 | EYA4 | Uncertain significance | 140619740 | RCV001156896|RCV001156897; | N | MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622 | 6 | 133853154 | 133853154 | | | 6:g.133853154T>G | - | | |
NM_004100.5(EYA4):c.*3226A>C | 2070 | EYA4 | Uncertain significance | 73546871 | RCV001156898|RCV001156899|RCV002491455; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133853169 | 133853169 | | | 6:g.133853169A>C | - | | |
NM_004100.5(EYA4):c.*3267C>A | 2070 | EYA4 | Uncertain significance | 886061099 | RCV000274398|RCV000371277|RCV002487563; | N | MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622; MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635 | 6 | 133853210 | 133853210 | | | NC_000006.11:g.133853210C>A | ClinGen:CA10625844 | CN239310 Dilated Cardiomyopathy, Dominant; | |