MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Hearing Loss, Sensorineural (D006319)
..Starting node
..expand
Deafness, Autosomal Dominant 10 (C563354)

       Child Nodes:



 Sister Nodes: 
..expandAcrootoocular Syndrome (C564866)
..expandAlbinism ocular late onset sensorineural deafness (C537043)
..expandArthrogryposis-like hand anomaly and sensorineural deafness (C535386)
..expandAtaxia, Deafness, and Cardiomyopathy (C565932)
..expandAthabaskan brainstem dysgenesis (C535397)
..expandAtherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..expandAuditory Neuropathy, Nonsyndromic Recessive (C563398)
..expandAxenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss (C537789)
..expandAxenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..expandBADS Syndrome (C562663)
..expandBarakat syndrome (C537907)
..expandBartter Syndrome, Type 4A (C566530)
..expandBartter Syndrome, Type 4b (C567762)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandBoudhina Yedes Khiari syndrome (C537939)
..expandBrachydactyly, Intraventricular Septal Defect, And Deafness (C566521)
..expandBrown-Vialetto-Van Laere syndrome (C537111)
..expandCAPOS syndrome (C535351)
..expandCardiomyopathy, Dilated, 1J (C565337)
..expandCataract ataxia deafness (C538283)
..expandCataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
..expandCATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..expandCerebellar Ataxia and Hypergonadotropic Hypogonadism (C565308)
..expandCerebellar Ataxia and Neurosensory Deafness (C565869)
..expandCerebellar Ataxia, Deafness, and Narcolepsy (C565825)
..expandCharcot-Marie-Tooth disease and deafness (C538078)
..expandCharcot-Marie-Tooth disease, Type 2J (C535417)
..expandChitty Hall Baraitser syndrome (C535928)
..expandChudley-Mccullough syndrome (C535459)
..expandCleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
..expandCochleosaccular degeneration of the inner ear and progressive cataracts (C536432)
..expandColoboma, cleft lip-palate and mental retardation syndrome (C535971)
..expandCongenital ectodermal dysplasia with hearing loss (C535757)
..expandCorneal dystrophy and perceptive deafness (C535473)
..expandCowchock syndrome (C536450)
..expandCraniofacial deafness hand syndrome (C536453)
..expandCutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness (C565306)
..expandDeafness enamel hypoplasia nail defects (C535994)
..expandDeafness oligodontia syndrome (C538049)
..expandDeafness, Aminoglycoside-Induced (C564013)  LSDB  L: 00051;
..expandDeafness, Autosomal Dominant 1 (C565121)
..expandDeafness, Autosomal Dominant 10 (C563354)
..expandDeafness, Autosomal Dominant 11 (C563353)
..expandDeafness, Autosomal Dominant 12 (C563295)
..expandDeafness, Autosomal Dominant 13 (C566612)
..expandDeafness, Autosomal Dominant 15 (C566545)
..expandDeafness, Autosomal Dominant 16 (C565832)
..expandDeafness, Autosomal Dominant 18 (C565267)
..expandDeafness, Autosomal Dominant 20 (C565754)
..expandDeafness, Autosomal Dominant 21 (C564634)
..expandDeafness, Autosomal Dominant 23 (C565357)
..expandDeafness, Autosomal Dominant 24 (C565239)
..expandDeafness, Autosomal Dominant 25 (C565319)
..expandDeafness, Autosomal Dominant 28 (C563890)
..expandDeafness, Autosomal Dominant 2A (C567441)
..expandDeafness, Autosomal Dominant 2B (C567214)
..expandDeafness, Autosomal Dominant 30 (C564706)
..expandDeafness, Autosomal Dominant 31 (C563888)
..expandDeafness, Autosomal Dominant 36 (C564675)
..expandDeafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
..expandDeafness, Autosomal Dominant 3A (C567277)
..expandDeafness, Autosomal Dominant 3B (C567215)
..expandDeafness, Autosomal Dominant 4 (C563460)
..expandDeafness, Autosomal Dominant 41 (C564272)
..expandDeafness, Autosomal Dominant 43 (C564246)
..expandDeafness, Autosomal Dominant 44 (C564399)
..expandDeafness, Autosomal Dominant 47 (C563885)
..expandDeafness, Autosomal Dominant 48 (C564322)
..expandDeafness, Autosomal Dominant 49 (C564250)
..expandDeafness, Autosomal Dominant 5 (C563410)
..expandDeafness, Autosomal Dominant 52 (C564348)
..expandDeafness, Autosomal Dominant 53 (C566495)
..expandDeafness, Autosomal Dominant 59 (C567216)
..expandDeafness, Autosomal Dominant 6 (C563421)
..expandDeafness, Autosomal Dominant 7 (C563321)
..expandDeafness, Autosomal Dominant 9 (C563335)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 17 (C538050)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 22 (C538197)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 23 (C538198)
..expandDeafness, autosomal dominant nonsyndromic sensorineural 24 (C538199)
..expandDeafness, Autosomal Recessive (C564609)
..expandDeafness, Autosomal Recessive 10 (C565341) Child1
..expandDeafness, Autosomal Recessive 12 (C563327)
..expandDeafness, Autosomal Recessive 13 (C566410)
..expandDeafness, Autosomal Recessive 14 (C566344)
..expandDeafness, Autosomal Recessive 15 (C566611)
..expandDeafness, Autosomal Recessive 16 (C566339)
..expandDeafness, Autosomal Recessive 17 (C566418)
..expandDeafness, Autosomal Recessive 18 (C566580) Child1
..expandDeafness, Autosomal Recessive 1A (C567134)  LSDB  L: 00489;
..expandDeafness, Autosomal Recessive 1b (C567213)
..expandDeafness, Autosomal Recessive 2 (C564007)
..expandDeafness, Autosomal Recessive 20 (C565828)
..expandDeafness, Autosomal Recessive 21 (C566353)
..expandDeafness, Autosomal Recessive 22 (C564633)
..expandDeafness, Autosomal Recessive 23 (C563705)
..expandDeafness, Autosomal Recessive 26 (C565329)
..expandDeafness, Autosomal Recessive 27 (C565287)
..expandDeafness, Autosomal Recessive 28 (C565218)
..expandDeafness, Autosomal Recessive 3 (C563961)
..expandDeafness, Autosomal Recessive 30 (C564624)
..expandDeafness, Autosomal Recessive 31 (C564629)
..expandDeafness, Autosomal Recessive 32 (C563884)
..expandDeafness, Autosomal Recessive 33 (C564602)
..expandDeafness, Autosomal Recessive 35 (C563908)
..expandDeafness, Autosomal Recessive 36 (C563815)
..expandDeafness, Autosomal Recessive 37 (C564331)
..expandDeafness, Autosomal Recessive 38 (C564273)
..expandDeafness, Autosomal Recessive 39 (C564265)
..expandDeafness, Autosomal Recessive 4 (C566366)
..expandDeafness, Autosomal Recessive 40 (C564266)
..expandDeafness, Autosomal Recessive 42 (C566460)
..expandDeafness, Autosomal Recessive 44 (C565716)
..expandDeafness, Autosomal Recessive 46 (C566459)
..expandDeafness, Autosomal Recessive 47 (C566498)
..expandDeafness, Autosomal Recessive 48 (C563720)
..expandDeafness, Autosomal Recessive 49 (C565717)
..expandDeafness, Autosomal Recessive 5 (C563444)
..expandDeafness, Autosomal Recessive 53 (C566453)
..expandDeafness, Autosomal Recessive 59 (C565698)
..expandDeafness, Autosomal Recessive 6 (C563418)
..expandDeafness, Autosomal Recessive 62 (C565719)
..expandDeafness, Autosomal Recessive 63 (C566951)
..expandDeafness, Autosomal Recessive 65 (C565211)
..expandDeafness, Autosomal Recessive 66 (C565701)
..expandDeafness, Autosomal Recessive 67 (C565207)
..expandDeafness, Autosomal Recessive 68 (C563669)
..expandDeafness, Autosomal Recessive 7 (C563417)
..expandDeafness, Autosomal Recessive 71 (C567562)
..expandDeafness, Autosomal Recessive 77 (C567543)
..expandDeafness, Autosomal Recessive 79 (C567651)
..expandDeafness, Autosomal Recessive 9 (C563396)
..expandDeafness, Autosomal Recessive, 24 (C567027)
..expandDeafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 (C563395) Child1
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDeafness, Congenital, with Total Albinism (C565646)
..expandDeafness, High-Frequency Sensorineural, X-Linked (C564432)
..expandDeafness, Mid-Tone Neural (C565122)
..expandDeafness, Progressive High-Tone Neural (C562423)
..expandDeafness, Sensorineural, And Male Infertility (C567010)
..expandDeafness, Sensorineural, Autosomal-Mitochondrial Type (C565637)  LSDB  L: 00159;
..expandDeafness, Sensorineural, with Hypertrophic Cardiomyopathy (C565236)
..expandDeafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..expandDeafness, X-Linked 1 (C564433)
..expandDeafness, X-Linked 3 (C564727)
..expandDeafness, X-Linked 4 (C564723)
..expandDeafness, X-Linked 5 (C564472)
..expandDigitorenocerebral Syndrome (C563052)
..expandDonnai-Barrow syndrome (C536390)
..expandEctodermal Dysplasia and Neurosensory Deafness (C565606)
..expandEctodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
..expandErmine phenotype (C535508)
..expandFitzsimmons Walson Mellor syndrome (C537937)
..expandFlynn Aird syndrome (C537066)
..expandFriedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness (C564999)
..expandGemignani syndrome (C537678)
..expandGonadal dysgenesis XX type deafness (C537286) Child1
..expandGriscelli syndrome type 1 (C537301)
..expandHearing Loss, Central (D006313) Child16  LSDB C:1
..expandHearing Loss, Noise-Induced (D006317)
..expandHID Syndrome (C566528)
..expandHistiocytosis with joint contractures and sensorineural deafness (C538322)
..expandHittner Hirsch Kreh syndrome (C538323)
..expandHomozygous 11p15-p14 Deletion Syndrome (C564701)
..expandInsulin-Like Growth Factor I Deficiency (C563867)
..expandJohanson Blizzard syndrome (C535880)
..expandKnuckle pads, leuconychia and sensorineural deafness (C537210)
..expandLICHTENSTEIN-KNORR SYNDROME (OMIM:616291)
..expandLipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones (C564283)
..expandMacrothrombocytopenia progressive deafness (C537831)
..expandMarshall syndrome (C536025)
..expandMartin-Probst Deafness-Mental Retardation Syndrome (C564495)
..expandMYH9-Related Disorders (C535507)
..expandNephropathy deafness hyperparathyroidism (C536401)
..expandNephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..expandNephropathy, Progressive, with Deafness (C563713)
..expandNeuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia (C566352)
..expandNonsyndromic sensorineural hearing loss (C537845)
..expandOptic atrophy 1 and deafness (C537124)  LSDB  L: 00657;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandOtodental Dysplasia (C563482)
..expandOtofacioosseous-Gonadal Syndrome (C566597)
..expandOTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..expandPalmoplantar Keratoderma with Deafness (C536152)
..expandParagangliomas with Sensorineural Hearing Loss (C566831)
..expandPendred syndrome (C536648)
..expandPfeiffer Kapferer syndrome (C537887)
..expandPresbycusis (D011304) Child2
..expandProgressive hearing loss stapes fixation (C536424)
..expandPrune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness (C562894)
..expandRenal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss (C566428)
..expandRenal Tubular Acidosis, Distal, with Progressive Nerve Deafness (C562897)
..expandRetinitis Pigmentosa Inversa with Deafness (C564842)
..expandRobinson Miller Bensimon syndrome (C535864)
..expandRod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (C564829)
..expandSchaap Taylor Baraitser syndrome (C536626)
..expandSensorineural Deafness With Mild Renal Dysfunction (C567544)
..expandSensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth (C566560)
..expandSeSAME syndrome (C557674)
..expandSpastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..expandSplit-Hand-Foot Malformation With Sensorineural Hearing Loss (C565647)
..expandSpondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
..expandStickler syndrome, type 1 (C537492)
..expandSTICKLER SYNDROME, TYPE IV (OMIM:614134)
..expandSTICKLER SYNDROME, TYPE V (OMIM:614284)
..expandThiamine responsive megaloblastic anemia syndrome (C536510)
..expandTownes-Brocks syndrome (C536974)
..expandTownes-Brocks-Branchiootorenal-Like Syndrome (C566272)
..expandTreft Sanborn Carey syndrome (C536544)
..expandTunglang Savage Bellman syndrome (C536927)
..expandUsher Syndromes (D052245) Child19  LSDB  L: 00160;
..expandVohwinkel syndrome (C536457)
..expandWinkelman Bethge Pfeiffer syndrome (C536710)
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
..expandWolfram Syndrome, Mitochondrial Form (C564012)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:3302
Name:Deafness, Autosomal Dominant 10
Definition:
Alternative IDs:OMIM:601316
ParentIDs:MESH:D006319
TreeNumbers:C09.218.458.341.887/C563354 |C10.597.751.418.341.887/C563354 |C23.888.592.763.393.341.887/C563354
Synonyms:DFNA10
Slim Mappings:Ear-nose-throat disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C563354
MeSH: C563354
OMIM: 601316;
MSeqDR LSDB:  
Genes: EYA4;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004100.5(EYA4):c.-445C>T2070EYA4Benign/Likely benign112196731RCV001152574|RCV001152575; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561335625081335625086:g.133562508C>T-
NM_004100.5(EYA4):c.-430T>C2070EYA4Uncertain significance886061084RCV000265035|RCV000320010; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133562523133562523NC_000006.11:g.133562523T>CClinGen:CA10621456CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.-408G>T2070EYA4Uncertain significance886061085RCV000261328|RCV000374604; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133562545133562545NC_000006.11:g.133562545G>TClinGen:CA10625817CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.-356T>C2070EYA4Benign/Likely benign375432060RCV000316592|RCV000389537; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133562597133562597NC_000006.11:g.133562597T>CClinGen:CA10621457CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.-326C>G2070EYA4Benign/Likely benign117602794RCV001153853|RCV001153854; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561335626271335626276:g.133562627C>G-
NM_004100.5(EYA4):c.-256C>T2070EYA4Uncertain significance886061086RCV000295160|RCV000350033; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133562697133562697NC_000006.11:g.133562697C>TClinGen:CA10621461CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.-244C>G2070EYA4Benign/Likely benign112173873RCV001156483|RCV001156484; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561335627091335627096:g.133562709C>G-
NM_004100.5(EYA4):c.-124C>T2070EYA4Uncertain significance886061088RCV000346740|RCV000407884; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:2176226133562829133562829NC_000006.11:g.133562829C>TClinGen:CA10621463CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.-76C>T2070EYA4Benign78081370RCV000307043|RCV000341578; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:2176226133562877133562877NC_000006.11:g.133562877C>TClinGen:CA10625987CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu)2070EYA4Uncertain significance1394230343RCV001321905|RCV002493681; NMONDO: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:906356133595950133595950133595950-
NM_004100.5(EYA4):c.83+5A>G2070EYA4Uncertain significance1060502995RCV000460020|RCV002480422; NMONDO: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:906356133703584133703584NC_000006.11:g.133703584A>GClinGen:CA16611947C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.103C>T (p.Leu35=)2070EYA4Benign/Likely benign35562371RCV000037877|RCV000475116|RCV001158148|RCV001642561; NMedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C36619006133767787133767787NC_000006.11:g.133767787C>TClinGen:CA135000C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.111T>C (p.Ser37=)2070EYA4Benign/Likely benign35863035RCV000037878|RCV000470524|RCV001158149|RCV001650869; NMedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C36619006133767795133767795NC_000006.11:g.133767795T>CClinGen:CA135002C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys)2070EYA4Uncertain significance932450184RCV000802309|RCV002388487|RCV002487700; NMONDO: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:9063561337678321337678326:g.133767832A>T-
NM_004100.5(EYA4):c.182C>T (p.Thr61Ile)2070EYA4Uncertain significance778473535RCV000301901|RCV000390693|RCV001753829; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN5172026133767866133767866NC_000006.11:g.133767866C>TClinGen:CA4007969CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp)2070EYA4Conflicting interpretations of pathogenicity200042576RCV001872716|RCV002425150|RCV002503445; NMONDO: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:2176226133769253133769253133769253-
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg)2070EYA4Uncertain significance201644472RCV000171943|RCV001297172|RCV002492715; NMedGen: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:2176226133769273133769273NC_000006.11:g.133769273C>GClinGen:CA237182CN517202 not provided;
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg)2070EYA4Uncertain significance727503050RCV000150679|RCV000699690|RCV002453484|RCV003224172; NMedGen: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:21762261337693031337693036:g.133769303C>GClinGen:CA176091C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.344G>C (p.Gly115Ala)2070EYA4Uncertain significance1793929707RCV001158150|RCV001158151; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261337777601337777606:g.133777760G>C-
NM_004100.5(EYA4):c.347C>T (p.Ala116Val)2070EYA4Conflicting interpretations of pathogenicity747223436RCV000261665|RCV000853008|RCV001069099|RCV002338948; NMONDO: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:C006133777763133777763NC_000006.11:g.133777763C>TClinGen:CA4008017CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.370+16C>T2070EYA4Benign/Likely benign376239950RCV001553624|RCV002072067|RCV002506661; NMedGen: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:906356133777802133777802133777802-
NM_004100.5(EYA4):c.438-15T>C2070EYA4Conflicting interpretations of pathogenicity752763979RCV001152681|RCV001152682|RCV003235480; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN16937461337834581337834586:g.133783458T>C-
NM_004100.5(EYA4):c.441del (p.Tyr148fs)2070EYA4Pathogenic878853223RCV000225045; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133783474133783474NC_000006.11:g.133783476delClinGen:CA10581503C1832476 601316 Deafness, autosomal dominant 10;
NM_004100.5(EYA4):c.472C>T (p.Gln158Ter)2070EYA4Likely pathogenic1794473050RCV001262651; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561337835071337835076:g.133783507C>T-
NM_004100.5(EYA4):c.529G>A (p.Val177Ile)2070EYA4Uncertain significance776409783RCV000219004|RCV001210168|RCV002347842|RCV002463664|RCV002500711; NMedGen: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:605361337835641337835646:g.133783564G>AClinGen:CA4008088CN169374 not specified;
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu)2070EYA4Uncertain significance769220102RCV001952036|RCV002281200|RCV002491901; NMONDO: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:2176226133783864133783864133783864-
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)2070EYA4Conflicting interpretations of pathogenicity143757415RCV000469324|RCV001580498|RCV002393147|RCV003224289|RCV003317224; NMONDO: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:CN1693746133785941133785941NC_000006.11:g.133785941C>AClinGen:CA4008143C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.783G>A (p.Thr261=)2070EYA4Conflicting interpretations of pathogenicity17854076RCV000037881|RCV000250291|RCV000468914|RCV001152683|RCV001529775; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C366190061337859751337859756:g.133785975G>AClinGen:CA135009CN230736 Cardiovascular phenotype;
NM_004100.5(EYA4):c.804+2del2070EYA4Pathogenic2128665075RCV001823261; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133785998133785998133785997-
NM_004100.5(EYA4):c.804+2T>A2070EYA4Pathogenic2128665071RCV001823238; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133785998133785998133785998-
NM_004100.5(EYA4):c.824C>T (p.Ala275Val)2070EYA4Uncertain significance748654006RCV001755479|RCV001868670|RCV002477993; NMedGen: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:906356133789723133789723133789723-
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)2070EYA4Benign/Likely benign9493627RCV000037882|RCV000247179|RCV000276894|RCV000332466|RCV002490514; NMedGen: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:C1861337897281337897286:g.133789728G>AClinGen:CA135011,UniProtKB:O95677#VAR_022932CN230736 Cardiovascular phenotype;
NM_004100.5(EYA4):c.860C>T (p.Ala287Val)2070EYA4Uncertain significance374522988RCV001051621|RCV001152684|RCV001759784|RCV002445271|RCV002479320; NMONDO: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:C1861337897591337897596:g.133789759C>T-
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)2070EYA4Conflicting interpretations of pathogenicity41286200RCV000150681|RCV000171945|RCV000387022|RCV001080380|RCV002444614; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN23073661337897651337897656:g.133789765C>TClinGen:CA176093C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.888G>A (p.Ser296=)2070EYA4Conflicting interpretations of pathogenicity768010410RCV000328938|RCV000383320|RCV000621069|RCV001530072; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN230736|MedGen:C36619006133789787133789787NC_000006.11:g.133789787G>AClinGen:CA4008180CN230736 Cardiovascular phenotype;
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp)2070EYA4Conflicting interpretations of pathogenicity757252384RCV000871588|RCV001153958|RCV002442862; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN23073661337897981337897986:g.133789798C>A-
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp)2070EYA4Benign/Likely benign75133151RCV000150682|RCV000228363|RCV000617375|RCV000853009|RCV001153959|RCV001812120; NMedGen: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, Orphanet61337898041337898046:g.133789804G>AClinGen:CA176095CN230736 Cardiovascular phenotype;
NM_004100.5(EYA4):c.964C>T (p.Gln322Ter)2070EYA4Pathogenic2128674939RCV001822876; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133789863133789863133789863-
NM_004100.5(EYA4):c.970+5A>G2070EYA4Uncertain significance886061089RCV000288938|RCV000343964; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133789874133789874NC_000006.11:g.133789874A>GClinGen:CA10625991CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu)2070EYA4Uncertain significance773095472RCV000171948|RCV000699926|RCV001154813|RCV002372072|RCV002492716; NMedGen: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:C1856133802608133802608NC_000006.11:g.133802608C>GClinGen:CA237190C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)2070EYA4Conflicting interpretations of pathogenicity146144708RCV000226170|RCV000379916|RCV000825759|RCV001553053|RCV002378994; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN169374|MedGen:C3661900|MedGen:CN2307366133802617133802617NC_000006.11:g.133802617G>TClinGen:CA4008218C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.992dup (p.Ser331fs)2070EYA4Pathogenic-1RCV003155548; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133802621133802622-
NM_004100.5(EYA4):c.1026_1027dup (p.Thr343fs)2070EYA4Pathogenic2128707546RCV002279737; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133802655133802656133802655OMIM:603550.0001
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)2070EYA4Conflicting interpretations of pathogenicity140170914RCV000172547|RCV000223647|RCV000340736|RCV000619332|RCV001085733; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN230736|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338026651338026656:g.133802665G>CClinGen:CA238391CN230736 Cardiovascular phenotype;
NM_004100.5(EYA4):c.1048_1049dup (p.Arg352fs)2070EYA4Pathogenic2128707619RCV001804164; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133802676133802677133802676OMIM:603550.0004
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln)2070EYA4Uncertain significance762144530RCV002027823|RCV002290841|RCV002479816; NMONDO: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:906356133802697133802697133802697-
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu)2070EYA4Uncertain significance1168354526RCV000601759|RCV001584423|RCV001854147|RCV002491236; NMedGen: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:21762261338027151338027156:g.133802715C>TClinGen:CA365706540CN169374 not specified;
NM_004100.5(EYA4):c.1107+10C>G2070EYA4Conflicting interpretations of pathogenicity752586864RCV000301007|RCV000555721|RCV001778937; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN1693746133802747133802747NC_000006.11:g.133802747C>GClinGen:CA4008240C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.1107+13A>C2070EYA4Conflicting interpretations of pathogenicity775989680RCV001158270|RCV001158271; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338027501338027506:g.133802750A>C-
NM_004100.5(EYA4):c.1109G>A (p.Arg370His)2070EYA4Conflicting interpretations of pathogenicity143936434RCV000150686|RCV000641934|RCV000770770|RCV002426713; NMedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN23073661338041711338041716:g.133804171G>AClinGen:CA176102C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter)2070EYA4Pathogenic2128711268RCV001580605; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133804216133804216133804216-
NM_004100.5(EYA4):c.1181A>G (p.Lys394Arg)2070EYA4Uncertain significance1796360086RCV001158272|RCV001158273; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338042431338042436:g.133804243A>G-
NM_004100.5(EYA4):c.1223G>A (p.Arg408His)2070EYA4Uncertain significance760787542RCV000216686|RCV001853452|RCV002363074|RCV002470821|RCV003144165; NMedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN51720261338272751338272756:g.133827275G>AClinGen:CA4008303CN169374 not specified;
NM_004100.5(EYA4):c.1282-12T>A2070EYA4Pathogenic2128781753RCV000006618; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133833847133833847NC_000006.11:g.133833847T>AOMIM:603550.0005C1832476 601316 Deafness, autosomal dominant 10;
NM_004100.5(EYA4):c.1338A>G (p.Leu446=)2070EYA4Conflicting interpretations of pathogenicity200309400RCV000297687|RCV000406234|RCV001529573; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C36619006133833915133833915NC_000006.11:g.133833915A>GClinGen:CA4008337CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter)2070EYA4Likely pathogenic1562505728RCV000761235; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133834022133834022NC_000006.11:g.133834022C>G-
NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn)2070EYA4Uncertain significance1321644184RCV000814608|RCV002487785; NMONDO: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:9063561338340331338340336:g.133834033C>A-
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val)2070EYA4Conflicting interpretations of pathogenicity146977269RCV000155091|RCV000171950|RCV001083900|RCV001152797|RCV002390350; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:CN23073661338340931338340936:g.133834093G>TClinGen:CA182150C1854368 605362 Dilated cardiomyopathy 1J;
NM_004100.5(EYA4):c.1468G>T (p.Glu490Ter)2070EYA4Likely pathogenic1305000119RCV002251117; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133834143133834143133834143-
NM_004100.5(EYA4):c.1494C>T (p.Asn498=)2070EYA4Likely benign748934740RCV002099515|RCV002391147|RCV002494002; NMONDO: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:906356133834169133834169133834169-
NM_004100.5(EYA4):c.1617-13C>G2070EYA4Benign/Likely benign756045097RCV002132463|RCV002500042; NMONDO: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:2176226133844181133844181133844181-
NM_004100.5(EYA4):c.1617-11C>T2070EYA4Conflicting interpretations of pathogenicity118166702RCV000214315|RCV001152798|RCV001152799|RCV001577115; NMedGen:CN169374|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C36619006133844183133844183NC_000006.11:g.133844183C>TClinGen:CA4008423CN169374 not specified;
NM_004100.5(EYA4):c.1720_1722delinsAAA (p.Tyr574Lys)2070EYA4Pathogenic1800334076RCV001004794; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133844297133844299NC_000006.11:g.133844297_133844299delinsAAA-
NM_004100.5(EYA4):c.1739-64G>A2070EYA4Conflicting interpretations of pathogenicity143208937RCV000150689|RCV000172548|RCV000276566|RCV000313007; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338462281338462286:g.133846228G>AClinGen:CA176107CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.1739-1G>A2070EYA4Likely pathogenic797045088RCV000190582|RCV001378781|RCV002399708|RCV003401039; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|61338462911338462916:g.133846291G>AClinGen:CA275997C1832476 601316 Deafness, autosomal dominant 10;
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter)2070EYA4Pathogenic1554275988RCV000627227|RCV001807645|RCV002529807; NMedGen:CN517202|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338463121338463126:g.133846312C>TClinGen:CA365700536,OMIM:603550.0002CN517202 not provided;
NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln)2070EYA4Uncertain significance1173508611RCV001907709|RCV002482534; NMONDO: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:2176226133846375133846375133846375-
NM_004100.5(EYA4):c.1840-16T>G2070EYA4Likely benign1039495587RCV002188835|RCV002500416; NMONDO: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:2176226133849847133849847133849847-
NM_004100.5(EYA4):c.1845C>T (p.Asn615=)2070EYA4Benign/Likely benign142721902RCV000037879|RCV000204942|RCV000252121|RCV001154070|RCV001528749; NMedGen:CN169374|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:CN230736|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C366190061338498681338498686:g.133849868C>TClinGen:CA135004C0878544 Cardiomyopathy;
NM_004100.5(EYA4):c.*15C>T2070EYA4Uncertain significance773904240RCV001154071|RCV001154072; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338499581338499586:g.133849958C>T-
NM_004100.5(EYA4):c.*23C>T2070EYA4Benign3734279RCV000271143|RCV000367720|RCV001540922; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C36619006133849966133849966NC_000006.11:g.133849966C>TClinGen:CA4008520CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*222G>A2070EYA4Uncertain significance998303327RCV001154074|RCV001154073; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338501651338501656:g.133850165G>A-
NM_004100.5(EYA4):c.*265G>A2070EYA4Uncertain significance983068379RCV001154075|RCV001154912; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338502081338502086:g.133850208G>A-
NM_004100.5(EYA4):c.*308G>T2070EYA4Uncertain significance999799440RCV001154913|RCV001154914; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338502511338502516:g.133850251G>T-
NM_004100.5(EYA4):c.*333G>A2070EYA4Uncertain significance746964933RCV000328527|RCV000362213; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133850276133850276NC_000006.11:g.133850276G>AClinGen:CA10625993CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*347T>C2070EYA4Uncertain significance1434297565RCV001154915|RCV001154916; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338502901338502906:g.133850290T>C-
NM_004100.5(EYA4):c.*379C>A2070EYA4Uncertain significance1025660001RCV001154917|RCV001156582; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338503221338503226:g.133850322C>A-
NM_004100.5(EYA4):c.*566G>T2070EYA4Uncertain significance1800870215RCV001156583|RCV001156584; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338505091338505096:g.133850509G>T-
NM_004100.5(EYA4):c.*633G>A2070EYA4Uncertain significance996978211RCV001156585|RCV001156586; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338505761338505766:g.133850576G>A-
NM_004100.5(EYA4):c.*726C>A2070EYA4Benign55805978RCV000269831|RCV000322613; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:2176226133850669133850669NC_000006.11:g.133850669C>AClinGen:CA10621469CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*732A>G2070EYA4Uncertain significance902919934RCV001152904|RCV001156587|RCV002491445; NMONDO: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:9063561338506751338506756:g.133850675A>G-
NM_004100.5(EYA4):c.*756A>G2070EYA4Uncertain significance1800887681RCV001152906|RCV001152905; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338506991338506996:g.133850699A>G-
NM_004100.5(EYA4):c.*1264T>A2070EYA4Benign9483585RCV000278928|RCV000336348|RCV001594988; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C36619006133851207133851207NC_000006.11:g.133851207T>AClinGen:CA10621471CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*1346C>T2070EYA4Uncertain significance772550313RCV001152907|RCV001152908; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338512891338512896:g.133851289C>T-
NM_004100.5(EYA4):c.*1350G>A2070EYA4Conflicting interpretations of pathogenicity553570769RCV000296646|RCV000392875; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133851293133851293NC_000006.11:g.133851293G>AClinGen:CA10622998CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*1363G>A2070EYA4Uncertain significance539858245RCV001154189|RCV001154190; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338513061338513066:g.133851306G>A-
NM_004100.5(EYA4):c.*1434A>G2070EYA4Benign9483586RCV000348936|RCV000392876|RCV001636983; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C36619006133851377133851377NC_000006.11:g.133851377A>GClinGen:CA10621476CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*1440C>A2070EYA4Uncertain significance1251468796RCV001154191|RCV001155023; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338513831338513836:g.133851383C>A-
NM_004100.5(EYA4):c.*1484C>T2070EYA4Benign/Likely benign116238383RCV001155024|RCV001155025|RCV001843567; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C366190061338514271338514276:g.133851427C>T-
NM_004100.5(EYA4):c.*1513T>C2070EYA4Uncertain significance886061092RCV000309148|RCV000366196; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133851456133851456NC_000006.11:g.133851456T>CClinGen:CA10623005CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*1532G>A2070EYA4Uncertain significance776008831RCV001155027|RCV001155026|RCV002497581; NMONDO: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:9063561338514751338514756:g.133851475G>A-
NM_004100.5(EYA4):c.*1551G>T2070EYA4Uncertain significance895041455RCV001155028|RCV001156681|RCV002483898; NMONDO: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:9063561338514941338514946:g.133851494G>T-
NM_004100.5(EYA4):c.*1600G>A2070EYA4Uncertain significance998755605RCV001156682|RCV001156683; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338515431338515436:g.133851543G>A-
NM_004100.5(EYA4):c.*1658C>T2070EYA4Benign73546865RCV000308153|RCV000406128|RCV001692024; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C36619006133851601133851601NC_000006.11:g.133851601C>TClinGen:CA10626005CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*1744G>A2070EYA4Uncertain significance542230437RCV000268309|RCV000360645; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:2176226133851687133851687NC_000006.11:g.133851687G>AClinGen:CA10621477CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*1770T>C2070EYA4Uncertain significance765287346RCV001151229|RCV001156684; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338517131338517136:g.133851713T>C-
NM_004100.5(EYA4):c.*1812G>T2070EYA4Uncertain significance555600336RCV000320566|RCV000359028; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:2176226133851755133851755NC_000006.11:g.133851755G>TClinGen:CA10621478CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*1820A>T2070EYA4Conflicting interpretations of pathogenicity184735364RCV001151230|RCV001151231; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338517631338517636:g.133851763A>T-
NM_004100.5(EYA4):c.*1867C>T2070EYA4Benign17053540RCV000261738|RCV000319240|RCV001643076; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C36619006133851810133851810NC_000006.11:g.133851810C>TClinGen:CA10626012CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*1905T>A2070EYA4Conflicting interpretations of pathogenicity542036379RCV000279343|RCV000371548; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:2176226133851848133851848NC_000006.11:g.133851848T>AClinGen:CA10626013CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*1943C>T2070EYA4Uncertain significance150567885RCV001154302|RCV001154301|RCV002483897; NMONDO: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:9063561338518861338518866:g.133851886C>T-
NM_004100.5(EYA4):c.*2010A>G2070EYA4Uncertain significance886061093RCV000331926|RCV000388839; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338519531338519536:g.133851953A>GClinGen:CA10621481CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2044A>G2070EYA4Conflicting interpretations of pathogenicity59167148RCV001154303|RCV001154304|RCV001840785; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C366190061338519871338519876:g.133851987A>G-
NM_004100.5(EYA4):c.*2049T>C2070EYA4Uncertain significance752513150RCV001154305|RCV001155137|RCV002491448; NMONDO: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:9063561338519921338519926:g.133851992T>C-
NM_004100.5(EYA4):c.*2108A>G2070EYA4Benign17053541RCV000292633|RCV000349866|RCV001618644; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C366190061338520511338520516:g.133852051A>GClinGen:CA10625833CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2184A>T2070EYA4Benign17053542RCV000291515|RCV000408346|RCV001683412; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C366190061338521271338521276:g.133852127A>TClinGen:CA10621482CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2188T>A2070EYA4Conflicting interpretations of pathogenicity376366555RCV000343879|RCV000408315; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338521311338521316:g.133852131T>AClinGen:CA10621483CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2269C>T2070EYA4Uncertain significance533609774RCV000304382|RCV000361377; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338522121338522126:g.133852212C>TClinGen:CA10623013CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2302G>A2070EYA4Benign/Likely benign41286208RCV000299898|RCV000401905|RCV001778938; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C366190061338522451338522456:g.133852245G>AClinGen:CA10625834CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2359C>T2070EYA4Conflicting interpretations of pathogenicity547907467RCV000259870|RCV000356947; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338523021338523026:g.133852302C>TClinGen:CA4008531CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2360G>A2070EYA4Uncertain significance886061094RCV000298805|RCV000369868; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338523031338523036:g.133852303G>AClinGen:CA10623015CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2377C>T2070EYA4Uncertain significance1205497819RCV001151357|RCV001156800; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338523201338523206:g.133852320C>T-
NM_004100.5(EYA4):c.*2439G>A2070EYA4Uncertain significance1298238435RCV001151358|RCV001151359; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:9063561338523821338523826:g.133852382G>A-
NM_004100.5(EYA4):c.*2511G>A2070EYA4Uncertain significance560590444RCV000271230|RCV000387327|RCV002487562; NMONDO: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:9063561338524541338524546:g.133852454G>AClinGen:CA10623016CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2588C>T2070EYA4Conflicting interpretations of pathogenicity140401218RCV000328568|RCV000380842|RCV003430919; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MedGen:C36619006133852531133852531NC_000006.11:g.133852531C>TClinGen:CA10623017CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2660T>C2070EYA4Uncertain significance886061096RCV000288688|RCV000341364; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133852603133852603NC_000006.11:g.133852603T>CClinGen:CA10621492CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2685T>A2070EYA4Benign/Likely benign41286210RCV001154400|RCV001154399|RCV001779122; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MedGen:C366190061338526281338526286:g.133852628T>A-
NM_004100.5(EYA4):c.*2750C>A2070EYA4Uncertain significance886061097RCV000282789|RCV000379532; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133852693133852693NC_000006.11:g.133852693C>AClinGen:CA10626032CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2759G>A2070EYA4Uncertain significance886061098RCV000341123|RCV000392266; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133852702133852702NC_000006.11:g.133852702G>AClinGen:CA10625836CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*2799C>A2070EYA4Likely benign143596676RCV001779638|RCV002503258; NMedGen:C3661900|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635; MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:2176226133852742133852742133852742-
NM_004100.5(EYA4):c.*2918G>A2070EYA4Benign/Likely benign75986250RCV001154401|RCV001155235|RCV002497579; NMONDO: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:9063561338528611338528616:g.133852861G>A-
NM_004100.5(EYA4):c.*2968T>A2070EYA4Benign/Likely benign181492427RCV000301474|RCV000335410; NMONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:217622|MONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:906356133852911133852911NC_000006.11:g.133852911T>AClinGen:CA10623020CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*3014T>C2070EYA4Benign/Likely benign76510133RCV000314341|RCV000405795; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:2176226133852957133852957NC_000006.11:g.133852957T>CClinGen:CA10626033CN239310 Dilated Cardiomyopathy, Dominant;
NM_004100.5(EYA4):c.*3121A>G2070EYA4Uncertain significance755881972RCV001155237|RCV001155236; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338530641338530646:g.133853064A>G-
NM_004100.5(EYA4):c.*3132C>T2070EYA4Uncertain significance1801031145RCV001155238|RCV001156893; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338530751338530756:g.133853075C>T-
NM_004100.5(EYA4):c.*3160C>T2070EYA4Uncertain significance1801032975RCV001156894|RCV001156895; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338531031338531036:g.133853103C>T-
NM_004100.5(EYA4):c.*3211T>G2070EYA4Uncertain significance140619740RCV001156896|RCV001156897; NMONDO:MONDO:0011031,MedGen:C1832476,OMIM:601316, Orphanet:90635|MONDO:MONDO:0011541,MedGen:C1854368,OMIM:605362, Orphanet:21762261338531541338531546:g.133853154T>G-
NM_004100.5(EYA4):c.*3226A>C2070EYA4Uncertain significance73546871RCV001156898|RCV001156899|RCV002491455; NMONDO: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:9063561338531691338531696:g.133853169A>C-
NM_004100.5(EYA4):c.*3267C>A2070EYA4Uncertain significance886061099RCV000274398|RCV000371277|RCV002487563; NMONDO: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:906356133853210133853210NC_000006.11:g.133853210C>AClinGen:CA10625844CN239310 Dilated Cardiomyopathy, Dominant;
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