EYA1 — 768 ClinVar variants

All ClinVar germline EYA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 234 flagged for review →

125 Pathogenic · 11 Pathogenic/Likely pathogenic · 83 Likely pathogenic · 43 Conflicting · 54 Benign · 25 Benign/Likely benign · 134 Likely benign · 293 Uncertain significance

Full EYA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 234

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 28

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

EYA1 p.Ala227Thr Conflicting Single submitter
branchiootorenal syndrome 1
EYA1 p.Ala269Glu Conflicting Single submitter
Inborn genetic diseases
EYA1 p.Arg12Cys Conflicting Single submitter
Inborn genetic diseases
EYA1 p.Arg12His Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Arg296Cys Conflicting Single submitter
Inborn genetic diseases
EYA1 p.Arg304Cys Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Arg437Cys Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Arg492Gln Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Arg77Gln Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Glu41Gln Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Gly135Ser Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Gly224Val Conflicting Single submitter
branchiootic syndrome 1
EYA1 p.Gly22Asp Conflicting Single submitter
Inborn genetic diseases
EYA1 p.Gly26Ser Conflicting Single submitter
branchiootic syndrome 1
EYA1 p.Gly426Ser Conflicting Single submitter
Inborn genetic diseases
EYA1 p.Ile146Val Conflicting Single submitter
Inborn genetic diseases
EYA1 p.Ile526Ser Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Leu295Ser Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Pro89Leu Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Pro9Leu Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Ser17Gly Conflicting Single submitter
branchiootic syndrome 1
EYA1 p.Ser242Gly Conflicting Single submitter
branchiootic syndrome 1
EYA1 p.Ser8Asn Conflicting Single submitter
branchiootorenal syndrome 1
EYA1 p.Thr100Asn Conflicting Single submitter
EYA1-related disorder
EYA1 p.Thr126Met Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Thr36Ile Conflicting Single submitter
otofaciocervical syndrome 1
EYA1 p.Thr55Ala Conflicting Single submitter
branchiootorenal syndrome 1
EYA1 p.Thr55Met Conflicting Single submitter
branchio-oto-renal syndrome

Predictors lean, ClinVar uncertain 164

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 164

EYA1 p.Ala463Thr Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Ala482Val Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Ala508Val Uncertain significance Multiple submitters
branchiootic syndrome 1
EYA1 p.Ala53Val Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Arg294Gln Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Arg306Trp Uncertain significance Multiple submitters
branchiootic syndrome 1
EYA1 p.Arg440Trp Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Arg573Gly Uncertain significance Multiple submitters
branchiootic syndrome 1
EYA1 p.Asn231Ser Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Asn38Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.Asp476Asn Uncertain significance Multiple submitters
branchiootic syndrome 1
EYA1 p.Gln183Arg Uncertain significance Multiple submitters
otofaciocervical syndrome 1
EYA1 p.Gln397Arg Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Gly396Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.Gly427Ser Uncertain significance Multiple submitters
branchiootic syndrome 1
EYA1 p.Gly555Glu Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.Gly557Ala Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Gly59Arg Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Gly66Val Uncertain significance Multiple submitters
EYA1 p.Ile195Met Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.Ile30Val Uncertain significance Multiple submitters
EYA1 p.Ile444Phe Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.Ile69Thr Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Ile97Val Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Leu420Phe Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.Lys442Arg Uncertain significance Multiple submitters
branchiootorenal syndrome 1
EYA1 p.Lys566Arg Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Pro179Leu Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Pro234Leu Uncertain significance Multiple submitters
EYA1-related disorder
EYA1 p.Ser157Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.Ser528Gly Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.Ser73Asn Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Thr271Ser Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Thr406Arg Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Thr79Ala Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Tyr235Phe Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.Tyr277Cys Uncertain significance Multiple submitters
otofaciocervical syndrome 1
EYA1 p.Tyr438Cys Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Tyr438Phe Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Val324Ala Uncertain significance Multiple submitters
branchiootorenal syndrome 1
EYA1 p.Val390Ala Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Ala107Val Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Ala121Ser Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Ala178Val Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Ala227Pro Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Ala413Val Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Ala416Thr Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Ala529Thr Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Ala564Pro Uncertain significance Single submitter
EYA1 p.Ala68Gly Uncertain significance Single submitter
otofaciocervical syndrome 1
EYA1 p.Arg347Ser Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Arg361Pro Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Arg437His Uncertain significance Single submitter
EYA1 p.Arg468Gly Uncertain significance Single submitter
EYA1 p.Arg492Pro Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Arg492Trp Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Arg540Gly Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Arg573Ser Uncertain significance Single submitter
branchiootorenal syndrome 1
EYA1 p.Asn209Ser Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Asn253Ser Uncertain significance Single submitter
EYA1 p.Asn497His Uncertain significance Single submitter
EYA1 p.Asn497Tyr Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Asn525Ile Uncertain significance Single submitter
branchiootorenal syndrome 1
EYA1 p.Asn525Lys Uncertain significance Single submitter
EYA1 p.Asn63Ile Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Asn91Asp Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Asp272Gly Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Asp330Gly Uncertain significance Single submitter
EYA1 p.Asp389Gly Uncertain significance Single submitter
EYA1 p.Asp393Ala Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Asp429His Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Asp58Asn Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Cys382Tyr Uncertain significance Single submitter
EYA1 p.Cys419Arg Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Cys537Arg Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Gln129His Uncertain significance Single submitter
EYA1 p.Gln160Pro Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Gln257His Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Glu363Gly Uncertain significance Single submitter
EYA1 p.Glu364Ala Uncertain significance Single submitter
branchiootorenal syndrome 1
EYA1 p.Glu364Asp Uncertain significance Single submitter
EYA1 p.Glu561Gln Uncertain significance Single submitter
EYA1 p.Gly207Val Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Gly222Cys Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Gly349Val Uncertain significance Single submitter
EYA1 p.Gly396Glu Uncertain significance Single submitter
branchiootorenal syndrome 1
EYA1 p.Gly39Asp Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Gly408Asp Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Gly457Val Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Gly557Val Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Gly66Cys Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.His10Arg Uncertain significance Single submitter
EYA1 p.His337Tyr Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.His373Arg Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.His386Leu Uncertain significance Single submitter
EYA1 p.Ile287Val Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Ile387Arg Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Ile444Val Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Ile471Thr Uncertain significance Single submitter
EYA1 p.Ile541Val Uncertain significance Single submitter
EYA1 p.Ile542Asn Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Leu13Val Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Leu295Trp Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Leu295Val Uncertain significance Single submitter
EYA1 p.Leu358His Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Leu434Ser Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Leu479Phe Uncertain significance Single submitter
EYA1 p.Leu580Pro Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Leu592Arg Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Lys433Asn Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Lys43Thr Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Met106Val Uncertain significance Single submitter
EYA1 p.Met118Val Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Met240Val Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Met47Ile Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Phe325Ser Uncertain significance Single submitter
EYA1 p.Phe404Cys Uncertain significance Single submitter
EYA1 p.Pro133Leu Uncertain significance Single submitter
hearing loss disorder
EYA1 p.Pro158Ser Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Pro175Arg Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Pro175His Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Pro175Leu Uncertain significance Single submitter
EYA1 p.Pro236Thr Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Pro261Thr Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Pro315Leu Uncertain significance Single submitter
EYA1 p.Pro315Ser Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Pro570Arg Uncertain significance Single submitter
EYA1 p.Ser165Asn Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Ser19Tyr Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Ser206Phe Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Ser267Asn Uncertain significance Single submitter
EYA1 p.Ser48Asn Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Ser48Gly Uncertain significance Single submitter
EYA1 p.Ser491Phe Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Ser54Leu Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Ser83Cys Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Thr100Ile Uncertain significance Single submitter
EYA1 p.Thr115Asn Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Thr148Ala Uncertain significance Single submitter
EYA1 p.Thr168Ser Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Thr172Ile Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Thr197Ala Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Thr197Ile Uncertain significance Single submitter
EYA1 p.Thr249Ile Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Thr252Ile Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Thr271Ala Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Thr274Ile Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Thr274Pro Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Trp430Arg Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Tyr348Phe Uncertain significance Single submitter
branchiootic syndrome 1

Predictors split 40

The independent predictors disagree with each other — read with care.

EYA1 p.Ala485Val Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Ala568Val Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Arg425Gly Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Arg425Trp Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Arg432Lys Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.His490Asp Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Leu164Pro Uncertain significance Multiple submitters
Inborn genetic diseases
EYA1 p.Ser400Gly Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Tyr230Cys Uncertain significance Multiple submitters
branchio-oto-renal syndrome
EYA1 p.Ala482Ser Uncertain significance Single submitter
Monogenic hearing loss
EYA1 p.Ala564Ser Uncertain significance Single submitter
EYA1 p.Asn368Ser Uncertain significance Single submitter
branchiootorenal syndrome 1
EYA1 p.Asp351Glu Uncertain significance Single submitter
EYA1 p.Asp429Glu Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Ile97Ser Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Leu483Met Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Leu509Met Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Lys288Asn Uncertain significance Single submitter
EYA1 p.Lys302Asn Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Lys566Asn Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Met3Arg Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Met3Ile Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Phe114Leu Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Phe114Ser Uncertain significance Single submitter
EYA1 p.Pro101Leu Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Pro216Leu Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Pro95Leu Conflicting Single submitter
Inborn genetic diseases
EYA1 p.Ser19Cys Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Ser267Arg Uncertain significance Single submitter
Inborn genetic diseases
EYA1 p.Ser487Leu Conflicting Single submitter
branchio-oto-renal syndrome
EYA1 p.Ser491Cys Uncertain significance Single submitter
EYA1 p.Thr422Pro Likely benign Single submitter
branchio-oto-renal syndrome
EYA1 p.Tyr109His Conflicting Single submitter
EYA1-related disorder
EYA1 p.Tyr124Cys Uncertain significance Single submitter
EYA1 p.Tyr139Cys Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Tyr139His Uncertain significance Single submitter
branchiootic syndrome 1
EYA1 p.Val424Ile Likely benign Single submitter
branchio-oto-renal syndrome
EYA1 p.Val558Ala Uncertain significance Single submitter
branchio-oto-renal syndrome
EYA1 p.Arg361Gln Uncertain significance No assertion criteria
EYA1-related disorder
EYA1 p.Cys495Ser Likely pathogenic No assertion criteria

All EYA1 variants

Pathogenic 125

c.1050+1G>T Multiple submitters branchio-oto-renal syndrome
c.1051-2A>G Multiple submitters branchio-oto-renal syndrome
c.1200-1G>A Multiple submitters branchio-oto-renal syndrome
c.1361-1G>A Multiple submitters branchio-oto-renal syndrome
c.1475+1G>C Multiple submitters Rare genetic deafness
c.1698+1G>T Multiple submitters branchio-oto-renal syndrome
c.966+1G>A Multiple submitters EYA1-related disorders
c.966+5G>A Multiple submitters EYA1-related disorders
p.Arg294Ter Multiple submitters branchiootorenal syndrome 1
p.Arg297Ter Multiple submitters EYA1-related disorder
p.Arg308Ter Multiple submitters EYA1-related disorders
p.Arg361Ter Multiple submitters EYA1-related disorder
p.Cys419fs Multiple submitters branchiootic syndrome 1
p.Gln228Ter Multiple submitters branchiootorenal syndrome 1
p.Gln397Ter Multiple submitters branchio-oto-renal syndrome
p.Ser201Ter Multiple submitters branchio-oto-renal syndrome
p.Trp430Ter Multiple submitters branchio-oto-renal syndrome
p.Val496fs Multiple submitters branchio-oto-renal syndrome
c.1050+4A>G Single submitter branchio-oto-renal syndrome
c.1140+1G>A Single submitter branchiootic syndrome 1
c.1140+1G>T Single submitter branchio-oto-renal syndrome
c.1200-1G>C Single submitter branchiootorenal syndrome 1
c.1200-2A>G Single submitter branchio-oto-renal syndrome
c.1360+1G>A Single submitter branchiootorenal syndrome 1
c.1361-1G>T Single submitter Rare genetic deafness
c.1476-2A>T Single submitter branchio-oto-renal syndrome
c.1597+1G>C Single submitter
c.1598-1G>C Single submitter branchio-oto-renal syndrome
c.1598-2A>G Single submitter branchio-oto-renal syndrome
c.1598-2del Single submitter branchiootic syndrome 1
c.(?_1598-56 Single submitter Rare genetic deafness
c.1699-1G>A Single submitter EYA1-related disorders
c.557-2A>T Single submitter
c.639+1G>A Single submitter branchio-oto-renal syndrome
c.966+1G>C Single submitter EYA1-related disorders
c.(?_-66 Single submitter Rare genetic deafness
p.Ala178fs Single submitter branchio-oto-renal syndrome
p.Ala269fs Single submitter branchio-oto-renal syndrome
p.Ala413fs Single submitter branchio-oto-renal syndrome
p.Ala473fs Single submitter branchio-oto-renal syndrome
p.Arg308fs Single submitter branchio-oto-renal syndrome
p.Arg425fs Single submitter branchio-oto-renal syndrome
p.Arg439fs Single submitter branchio-oto-renal syndrome
p.Arg492fs Single submitter branchiootorenal syndrome 1
p.Arg540fs Single submitter branchio-oto-renal syndrome
p.Asn231fs Single submitter branchio-oto-renal syndrome
p.Asn310fs Single submitter branchiootorenal syndrome 1
p.Asn395Ter Single submitter branchio-oto-renal syndrome
p.Asn417Ter Single submitter branchio-oto-renal syndrome
p.Asp429fs Single submitter
p.Asp476fs Single submitter branchiootic syndrome 1
p.Cys537Ter Single submitter branchiootorenal syndrome 1
p.Gln113fs Single submitter branchio-oto-renal syndrome
p.Gln119Ter Single submitter branchio-oto-renal syndrome
p.Gln132fs Single submitter Rare genetic deafness
p.Gln156Ter Single submitter branchio-oto-renal syndrome
p.Gln183Ter Single submitter branchio-oto-renal syndrome
p.Gln212Ter Single submitter
p.Gln504Ter Single submitter branchiootic syndrome 1
p.Gln543Ter Single submitter branchio-oto-renal syndrome
p.Gln562Ter Single submitter branchio-oto-renal syndrome
p.Gln81Ter Single submitter Rare genetic deafness
p.Glu364fs Single submitter Monogenic hearing loss
p.Glu364Ter Single submitter Rare genetic deafness
p.Glu380Ter Single submitter EYA1-related disorders
p.Glu443fs Single submitter branchio-oto-renal syndrome
p.Glu470Ter Single submitter branchiootic syndrome 1
p.Glu524fs Single submitter branchio-oto-renal syndrome
p.Gly150fs Single submitter branchiootorenal syndrome 1
p.Gly224fs Single submitter branchiootorenal syndrome 1
p.Gly305fs Single submitter branchiootorenal syndrome 1
p.Gly396Ter Single submitter branchio-oto-renal syndrome
p.His373fs Single submitter
p.His567fs Single submitter branchio-oto-renal syndrome
p.His585fs Single submitter branchio-oto-renal syndrome
p.Ile471fs Single submitter
p.Ile498_Leu499insTer Single submitter Anhydramnios
p.Ile523fs Single submitter branchio-oto-renal syndrome
p.Leu164fs Single submitter branchio-oto-renal syndrome
p.Leu202fs Single submitter
p.Leu374fs Single submitter Rare genetic deafness
p.Leu420fs Single submitter branchiootorenal syndrome 1
p.Lys442fs Single submitter branchio-oto-renal syndrome
p.Lys511Ter Single submitter
p.Lys566fs Single submitter Rare genetic deafness
p.Met362fs Single submitter branchio-oto-renal syndrome
p.Phe325fs Single submitter branchiootorenal syndrome 1
p.Phe375fs Single submitter branchiootorenal syndrome 1
p.Phe545fs Single submitter branchio-oto-renal syndrome
p.Pro261fs Single submitter branchio-oto-renal syndrome
p.Pro317fs Single submitter branchio-oto-renal syndrome
p.Ser157Ter Single submitter branchio-oto-renal syndrome
p.Ser211Ter Single submitter branchiootorenal syndrome 1
p.Ser282fs Single submitter
p.Ser299Ter Single submitter Rare genetic deafness
p.Ser338fs Single submitter branchio-oto-renal syndrome
p.Ser487Pro Single submitter branchio-oto-renal syndrome
p.Ser487Ter Single submitter branchio-oto-renal syndrome
p.Trp143Ter Single submitter Rare genetic deafness
p.Trp327Ter Single submitter branchiootorenal syndrome 1
p.Trp464Ter Single submitter branchiootorenal syndrome 1
p.Trp478Ter Single submitter branchio-oto-renal syndrome
p.Trp572Ter Single submitter branchiootorenal syndrome 1
p.Tyr134Ter Single submitter branchio-oto-renal syndrome
p.Tyr218Ter Single submitter branchio-oto-renal syndrome
p.Tyr226Ter Single submitter branchio-oto-renal syndrome
p.Tyr239Ter Single submitter EYA1-related disorder
p.Tyr344fs Single submitter
p.Tyr445Ter Single submitter branchiootorenal syndrome 1
p.Tyr515Ter Single submitter branchio-oto-renal syndrome
p.Tyr591fs Single submitter branchio-oto-renal syndrome
p.Val452fs Single submitter branchio-oto-renal syndrome
p.Val549fs Single submitter branchio-oto-renal syndrome
p.Val553del Single submitter branchio-oto-renal syndrome
c.557del No assertion criteria branchio-oto-renal syndrome
c.639+2T>G No assertion criteria branchiootic syndrome 1
c.639+98_760del No assertion criteria branchiootic syndrome 1
p.Arg547Gly No assertion criteria Anterior segment anomalies and cataract
p.Asn451fs No assertion criteria branchiootorenal syndrome 1
p.Glu363Lys No assertion criteria Abnormal anterior chamber morphology
p.Gly533Arg No assertion criteria
p.Leu505Arg No assertion criteria branchiootorenal syndrome 1
p.Lys565fs No assertion criteria branchiootorenal syndrome 1
p.Pro133fs No assertion criteria branchiootic syndrome 1
p.Thr501fs No assertion criteria branchiootic syndrome 1

Pathogenic/Likely pathogenic 11

c.1199+1G>A Multiple submitters branchio-oto-renal syndrome
c.1360+5G>A Multiple submitters branchio-oto-renal syndrome
c.1597+1G>A Multiple submitters branchiootic syndrome 1
c.418+1G>A Multiple submitters EYA1-related disorders
c.640-15_698del Multiple submitters branchio-oto-renal syndrome
p.Arg440Gln Multiple submitters EYA1-related disorders
p.Arg77Ter Multiple submitters branchio-oto-renal syndrome
p.Gln213Ter Multiple submitters branchio-oto-renal syndrome
p.Gln259Ter Multiple submitters branchiootorenal syndrome 1
p.Tyr348Ter Multiple submitters branchio-oto-renal syndrome
p.Tyr448Ter Multiple submitters branchio-oto-renal syndrome

Likely pathogenic 83

p.Leu583Pro Multiple submitters Rare genetic deafness
c.1050+2del Single submitter branchiootorenal syndrome 1
c.1050+2T>C Single submitter EYA1-related disorders
c.1051-3T>A Single submitter branchiootic syndrome 1
c.1051-5T>G Single submitter branchiootorenal syndrome 1
c.1141-2A>G Single submitter branchiootorenal syndrome 1
c.1199+2T>A Single submitter branchio-oto-renal syndrome
c.1361-2A>C Single submitter branchiootic syndrome 1
c.1361-2A>G Single submitter branchio-oto-renal syndrome
c.1597+1G>T Single submitter branchio-oto-renal syndrome
c.1673_1698+20del Single submitter branchiootorenal syndrome 1
c.1698+2T>C Single submitter otofaciocervical syndrome 1
c.202+1G>A Single submitter
c.34-5645dup Single submitter EYA1-related disorders
c.419-2A>G Single submitter branchio-oto-renal syndrome
c.556+2123C>T Single submitter branchiootorenal syndrome 1
c.557-1G>A Single submitter branchio-oto-renal syndrome
c.639+3A>C Single submitter branchiootic syndrome 1
c.640-1G>A Single submitter EYA1-related disorders
c.826+1G>A Single submitter branchio-oto-renal syndrome
c.827-2A>G Single submitter EYA1-related disorders
c.966+2_966+13del Single submitter branchiootorenal syndrome 1
c.967-1G>A Single submitter EYA1-related disorders
p.Ala123_Tyr124insTer Single submitter branchiootorenal syndrome 1
p.Ala463fs Single submitter
p.Ala564fs Single submitter
p.Ala582fs Single submitter branchiootorenal syndrome 1
p.Ala68fs Single submitter
p.Arg323fs Single submitter EYA1-related disorders
p.Arg544fs Single submitter branchiootorenal syndrome 1
p.Asp351Tyr Single submitter
p.Asp388fs Single submitter branchiootorenal syndrome 1
p.Gln120Ter Single submitter EYA1-related disorders
p.Gln156fs Single submitter branchiootorenal syndrome 1
p.Gln160fs Single submitter EYA1-related disorders
p.Gln174Ter Single submitter branchiootorenal syndrome 1
p.Glu322= Single submitter EYA1-related disorders
p.Glu322fs Single submitter EYA1-related disorders
p.Glu322Ter Single submitter EYA1-related disorders
p.Glu331Ter Single submitter EYA1-related disorders
p.Glu380fs Single submitter branchiootic syndrome 1
p.Glu524Ter Single submitter
p.Glu560Ter Single submitter branchiootorenal syndrome 1
p.Gly359fs Single submitter branchiootorenal syndrome 1
p.Gly427fs Single submitter branchiootic syndrome 1
p.Gly555Arg Single submitter branchiootorenal syndrome 1
p.Leu360fs Single submitter branchiootorenal syndrome 1
p.Leu369Ter Single submitter branchiootorenal syndrome 1
p.Leu374Ter Single submitter EYA1-related disorders
p.Leu399fs Single submitter Rare genetic deafness
p.Leu455Arg Single submitter EYA1-related disorders
p.Leu455fs Single submitter EYA1-related disorders
p.Leu483Pro Single submitter branchio-oto-renal syndrome
p.Leu486Arg Single submitter branchiootorenal syndrome 1
p.Leu499Ter Single submitter branchiootic syndrome 1
p.Leu513Met Single submitter ⚠
p.Leu513Pro Single submitter branchiootic syndrome 1
p.Leu580Arg Single submitter branchio-oto-renal syndrome
p.Leu587Phe Single submitter branchiootorenal syndrome 1
p.Leu592_Ter593insLeuGluLeuGluTyrLeu Single submitter branchio-oto-renal syndrome
p.Lys548Ter Single submitter EYA1-related disorders
p.Phe376fs Single submitter EYA1-related disorders
p.Phe571fs Single submitter branchiootorenal syndrome 1
p.Ser193Ter Single submitter branchiootorenal syndrome 1
p.Ser355Ter Single submitter EYA1-related disorders
p.Thr126fs Single submitter EYA1-related disorders
p.Trp327Arg Single submitter branchiootorenal syndrome 1
p.Trp572fs Single submitter
p.Tyr215fs Single submitter EYA1-related disorders
p.Tyr215Ter Single submitter branchiootorenal syndrome 1
p.Tyr230fs Single submitter
p.Tyr515fs Single submitter EYA1-related disorder
p.Tyr527Asn Single submitter Rare genetic deafness
p.Tyr551fs Single submitter branchiootic syndrome 1
p.Tyr551Ter Single submitter branchiootorenal syndrome 1
p.Val385fs Single submitter branchiootic syndrome 1
p.Val441fs Single submitter EYA1-related disorders
c.1050+1G>C No assertion criteria branchio-oto-renal syndrome
p.Asp214Asn No assertion criteria ⚠
p.Asp429Gly No assertion criteria branchiootic syndrome 1
p.Cys495Ser No assertion criteria ⚠
p.Glu539Ter No assertion criteria branchiootic syndrome 1
p.Ser251fs No assertion criteria branchiootorenal syndrome 1

Conflicting classifications of pathogenicity 43

c.1699-8T>C Single submitter branchio-oto-renal syndrome
c.640-15G>A Single submitter branchio-oto-renal syndrome
c.640-4G>C Single submitter branchio-oto-renal syndrome
c.966+5G>C Single submitter branchio-oto-renal syndrome
c.*429T>C Single submitter otofaciocervical syndrome 1
p.Ala227Thr Single submitter branchiootorenal syndrome 1 ⚠
p.Ala269Glu Single submitter Inborn genetic diseases ⚠
p.Arg12Cys Single submitter Inborn genetic diseases ⚠
p.Arg12His Single submitter branchio-oto-renal syndrome ⚠
p.Arg296Cys Single submitter Inborn genetic diseases ⚠
p.Arg297Gln Single submitter branchio-oto-renal syndrome
p.Arg304Cys Single submitter branchio-oto-renal syndrome ⚠
p.Arg437Cys Single submitter branchio-oto-renal syndrome ⚠
p.Arg492Gln Single submitter branchio-oto-renal syndrome ⚠
p.Arg77Gln Single submitter branchio-oto-renal syndrome ⚠
p.Asp289Tyr Single submitter branchiootic syndrome 1
p.Gln228= Single submitter branchio-oto-renal syndrome
p.Glu41Gln Single submitter branchio-oto-renal syndrome ⚠
p.Gly135Ser Single submitter branchio-oto-renal syndrome ⚠
p.Gly224Val Single submitter branchiootic syndrome 1 ⚠
p.Gly22Asp Single submitter Inborn genetic diseases ⚠
p.Gly26Ser Single submitter branchiootic syndrome 1 ⚠
p.Gly426Ser Single submitter Inborn genetic diseases ⚠
p.Ile146Val Single submitter Inborn genetic diseases ⚠
p.Ile526Ser Single submitter branchio-oto-renal syndrome ⚠
p.Leu295Ser Single submitter branchio-oto-renal syndrome ⚠
p.Leu420= Single submitter otofaciocervical syndrome 1
p.Phe114Leu Single submitter branchio-oto-renal syndrome ⚠
p.Pro216Arg Single submitter branchio-oto-renal syndrome
p.Pro89Leu Single submitter branchio-oto-renal syndrome ⚠
p.Pro95Leu Single submitter Inborn genetic diseases ⚠
p.Pro99Leu Single submitter branchio-oto-renal syndrome
p.Pro9Leu Single submitter branchio-oto-renal syndrome ⚠
p.Ser17Gly Single submitter branchiootic syndrome 1 ⚠
p.Ser242Gly Single submitter branchiootic syndrome 1 ⚠
p.Ser487Leu Single submitter branchio-oto-renal syndrome ⚠
p.Ser8Asn Single submitter branchiootorenal syndrome 1 ⚠
p.Thr100Asn Single submitter EYA1-related disorder ⚠
p.Thr126Met Single submitter branchio-oto-renal syndrome ⚠
p.Thr36Ile Single submitter otofaciocervical syndrome 1 ⚠
p.Thr55Ala Single submitter branchiootorenal syndrome 1 ⚠
p.Thr55Met Single submitter branchio-oto-renal syndrome ⚠
p.Tyr109His Single submitter EYA1-related disorder ⚠

Benign 54

c.1050+107A>G Multiple submitters
c.1050+113G>A Multiple submitters
c.1050+28A>C Multiple submitters
c.125-169T>C Multiple submitters
c.1360+53C>T Multiple submitters
c.1476-21G>T Multiple submitters otofaciocervical syndrome 1
c.1597+59C>T Multiple submitters
c.1597+60G>A Multiple submitters
c.1698+133A>G Multiple submitters
c.1699-23A>G Multiple submitters branchiootorenal syndrome 1
c.1699-55G>A Multiple submitters
c.1699-84C>G Multiple submitters
c.272+99A>T Multiple submitters
c.556+18G>T Multiple submitters branchio-oto-renal syndrome
c.639+39T>G Multiple submitters branchiootorenal syndrome 1
c.826+104C>T Multiple submitters
c.827-104A>G Multiple submitters
c.-340G>T Multiple submitters otofaciocervical syndrome 1
c.*1263C>T Multiple submitters otofaciocervical syndrome 1
c.*1324T>C Multiple submitters otofaciocervical syndrome 1
c.*1581G>A Multiple submitters otofaciocervical syndrome 1
c.*800T>C Multiple submitters otofaciocervical syndrome 1
p.Gly426= Multiple submitters branchio-oto-renal syndrome
p.His585= Multiple submitters branchio-oto-renal syndrome
p.Pro20Ala Multiple submitters branchio-oto-renal syndrome
p.Pro261Leu Multiple submitters branchio-oto-renal syndrome
p.Thr248= Multiple submitters branchio-oto-renal syndrome
p.Thr271= Multiple submitters branchio-oto-renal syndrome
c.1050+66T>G Single submitter
c.1051-323C>G Single submitter
c.125-258A>G Single submitter
c.125-31C>T Single submitter
c.1360+286_1360+303dup Single submitter
c.1597+18del Single submitter branchio-oto-renal syndrome
c.1598-19ATTT[3] Single submitter branchio-oto-renal syndrome
c.1598-326C>G Single submitter
c.1698+344C>T Single submitter
c.418+102C>T Single submitter
c.418+225T>C Single submitter
c.419-273A>G Single submitter
c.557-226T>C Single submitter
c.826+244C>G Single submitter
c.966+233_966+236del Single submitter
c.-271G>A Single submitter otofaciocervical syndrome 1
c.-4-297T>C Single submitter
c.*104C>T Single submitter otofaciocervical syndrome 1
c.*1222A>C Single submitter branchiootic syndrome 1
c.*1310G>A Single submitter branchiootic syndrome 1
c.*1890A>G Single submitter branchiootic syndrome 1
c.*353C>T Single submitter otofaciocervical syndrome 1
c.*556A>G Single submitter branchiootic syndrome 1
c.*705G>T Single submitter branchiootic syndrome 1
c.*784T>C Single submitter branchiootic syndrome 1
p.His567= Single submitter otofaciocervical syndrome 1

Benign/Likely benign 25

c.1141-15T>G Multiple submitters branchio-oto-renal syndrome
c.1199+13G>T Multiple submitters branchio-oto-renal syndrome
c.1200-11C>A Multiple submitters otofaciocervical syndrome 1
c.1475+15G>A Multiple submitters branchiootic syndrome 1
c.1597+18T>C Multiple submitters branchio-oto-renal syndrome
c.1598-15A>G Multiple submitters branchio-oto-renal syndrome
c.1699-3C>T Multiple submitters branchio-oto-renal syndrome
c.557-11T>A Multiple submitters branchio-oto-renal syndrome
c.639+17G>C Multiple submitters branchiootic syndrome 1
c.966+4C>T Multiple submitters otofaciocervical syndrome 1
c.-191C>G Multiple submitters otofaciocervical syndrome 1
c.*102T>G Multiple submitters otofaciocervical syndrome 1
c.*23G>A Multiple submitters branchiootic syndrome 1
p.Ala107= Multiple submitters branchiootorenal syndrome 1
p.Ala459= Multiple submitters branchio-oto-renal syndrome
p.Arg296His Multiple submitters branchio-oto-renal syndrome
p.Arg308Gln Multiple submitters otofaciocervical syndrome 1
p.Asn395= Multiple submitters branchio-oto-renal syndrome
p.Ile280= Multiple submitters branchio-oto-renal syndrome
p.Pro216= Multiple submitters otofaciocervical syndrome 1
p.Pro234= Multiple submitters branchio-oto-renal syndrome
p.Ser49= Multiple submitters branchio-oto-renal syndrome
p.Ser578= Multiple submitters branchio-oto-renal syndrome
c.-47C>A Single submitter otofaciocervical syndrome 1
p.Ala53= Single submitter otofaciocervical syndrome 1

Likely benign 134

c.1140+11A>T Multiple submitters branchiootic syndrome 1
c.1140+69A>G Multiple submitters
c.125-13T>C Multiple submitters branchiootic syndrome 1
c.1475+15G>T Multiple submitters branchio-oto-renal syndrome
c.202+15T>C Multiple submitters branchio-oto-renal syndrome
c.202+9T>C Multiple submitters branchio-oto-renal syndrome
c.557-12A>G Multiple submitters branchiootic syndrome 1
c.557-54C>T Multiple submitters
c.640-16T>C Multiple submitters branchio-oto-renal syndrome
c.826+214C>G Multiple submitters
c.966+8A>G Multiple submitters branchio-oto-renal syndrome
c.-54-314A>G Multiple submitters
p.Ala510= Multiple submitters otofaciocervical syndrome 1
p.Ala568= Multiple submitters branchio-oto-renal syndrome
p.Arg461= Multiple submitters branchio-oto-renal syndrome
p.Asn38Asp Multiple submitters branchio-oto-renal syndrome
p.Asp58= Multiple submitters branchio-oto-renal syndrome
p.Glu41Lys Multiple submitters branchio-oto-renal syndrome
p.Leu360= Multiple submitters branchio-oto-renal syndrome
p.Pro133= Multiple submitters branchiootic syndrome 1
p.Ser210= Multiple submitters branchio-oto-renal syndrome
p.Thr475= Multiple submitters branchio-oto-renal syndrome
p.Thr55= Multiple submitters branchio-oto-renal syndrome
p.Tyr134= Multiple submitters branchio-oto-renal syndrome
p.Tyr226= Multiple submitters branchio-oto-renal syndrome
p.Tyr344= Multiple submitters branchio-oto-renal syndrome
p.Val496= Multiple submitters branchio-oto-renal syndrome
p.Val550= Multiple submitters
c.1050+20A>C Single submitter branchio-oto-renal syndrome
c.1051-18G>A Single submitter branchio-oto-renal syndrome
c.1051-23C>T Single submitter
c.1140+18A>G Single submitter branchio-oto-renal syndrome
c.1199+12T>C Single submitter branchio-oto-renal syndrome
c.1199+8C>T Single submitter branchio-oto-renal syndrome
c.124+198A>C Single submitter
c.124+19A>G Single submitter branchio-oto-renal syndrome
c.124+225A>G Single submitter
c.125-18T>C Single submitter
c.1361-21_1361-19del Single submitter branchio-oto-renal syndrome
c.1361-267C>T Single submitter
c.1361-7T>C Single submitter branchio-oto-renal syndrome
c.1475+10T>A Single submitter branchio-oto-renal syndrome
c.1475+14C>T Single submitter
c.1475+17G>A Single submitter branchio-oto-renal syndrome
c.1475+18G>T Single submitter branchio-oto-renal syndrome
c.1475+9C>G Single submitter branchio-oto-renal syndrome
c.1476-21_1476-18del Single submitter
c.1476-21del Single submitter
c.1597+114del Single submitter
c.1597+288del Single submitter
c.1597+6C>G Single submitter
c.1597+8G>A Single submitter branchio-oto-renal syndrome
c.1698+14G>C Single submitter branchio-oto-renal syndrome
c.1699-119_1699-116dup Single submitter
c.1699-12C>T Single submitter branchio-oto-renal syndrome
c.202+8A>T Single submitter branchio-oto-renal syndrome
c.203-16T>G Single submitter branchio-oto-renal syndrome
c.272+13_272+14insTA Single submitter branchio-oto-renal syndrome
c.272+13T>G Single submitter branchio-oto-renal syndrome
c.272+15C>A Single submitter branchio-oto-renal syndrome
c.272+17del Single submitter branchio-oto-renal syndrome
c.272+7T>C Single submitter
c.272+9_272+10insTTTATT Single submitter branchio-oto-renal syndrome
c.273-10T>G Single submitter branchio-oto-renal syndrome
c.273-18G>T Single submitter branchio-oto-renal syndrome
c.273-20C>T Single submitter branchio-oto-renal syndrome
c.418+10C>G Single submitter branchio-oto-renal syndrome
c.418+10C>T Single submitter branchio-oto-renal syndrome
c.418+11T>G Single submitter branchio-oto-renal syndrome
c.418+15A>G Single submitter branchio-oto-renal syndrome
c.418+34C>T Single submitter
c.419-13C>T Single submitter branchio-oto-renal syndrome
c.557-18C>A Single submitter branchio-oto-renal syndrome
c.557-206G>C Single submitter
c.557-20T>C Single submitter
c.557-28A>G Single submitter
c.557-7del Single submitter
c.639+14C>T Single submitter branchio-oto-renal syndrome
c.639+20T>C Single submitter branchio-oto-renal syndrome
c.639+8A>G Single submitter branchio-oto-renal syndrome
c.640-14G>A Single submitter branchio-oto-renal syndrome
c.640-21T>C Single submitter
c.640-4G>T Single submitter branchio-oto-renal syndrome
c.827-20T>C Single submitter branchio-oto-renal syndrome
c.827-4G>A Single submitter branchio-oto-renal syndrome
c.966+14A>G Single submitter branchio-oto-renal syndrome
c.966+250A>G Single submitter
c.967-13T>C Single submitter
c.-135A>C Single submitter
c.-4-284C>G Single submitter
c.-5+19T>C Single submitter
c.*9G>A Single submitter
p.Ala485= Single submitter branchiootorenal syndrome 1
p.Ala510Val Single submitter otofaciocervical syndrome 1
p.Ala568Thr Single submitter branchio-oto-renal syndrome
p.Ala57= Single submitter branchio-oto-renal syndrome
p.Arg12Pro Single submitter branchio-oto-renal syndrome
p.Asn311= Single submitter
p.Asp320= Single submitter
p.Asp556= Single submitter
p.Glu561= Single submitter branchio-oto-renal syndrome
p.Gly342= Single submitter
p.Gly408= Single submitter
p.His567Gln Single submitter branchiootic syndrome 1
p.Leu13Gln Single submitter branchio-oto-renal syndrome
p.Leu25= Single submitter branchio-oto-renal syndrome
p.Leu488= Single submitter
p.Leu509= Single submitter branchio-oto-renal syndrome
p.Phe114= Single submitter
p.Pro128= Single submitter branchio-oto-renal syndrome
p.Pro179= Single submitter branchio-oto-renal syndrome
p.Pro261= Single submitter branchio-oto-renal syndrome
p.Pro85= Single submitter branchio-oto-renal syndrome
p.Pro9= Single submitter branchio-oto-renal syndrome
p.Ser137= Single submitter branchio-oto-renal syndrome
p.Ser206= Single submitter
p.Ser267Gly Single submitter branchio-oto-renal syndrome
p.Ser487= Single submitter branchio-oto-renal syndrome
p.Thr203= Single submitter
p.Thr203Ala Single submitter branchio-oto-renal syndrome
p.Thr248Met Single submitter otofaciocervical syndrome 1
p.Thr266= Single submitter branchio-oto-renal syndrome
p.Thr279= Single submitter
p.Thr372= Single submitter
p.Thr422Pro Single submitter branchio-oto-renal syndrome ⚠
p.Thr502Ser Single submitter
p.Tyr239= Single submitter
p.Tyr402= Single submitter branchio-oto-renal syndrome
p.Val385= Single submitter branchio-oto-renal syndrome
p.Val424Ile Single submitter branchio-oto-renal syndrome ⚠
p.Val441= Single submitter branchio-oto-renal syndrome
p.Val553= Single submitter
p.Gln113= No assertion criteria EYA1-related disorder
p.Leu142= No assertion criteria EYA1-related disorder

Uncertain significance 293

c.1051-12T>G Multiple submitters branchio-oto-renal syndrome
c.1140+4_1140+7del Multiple submitters branchio-oto-renal syndrome
c.1140+5G>A Multiple submitters branchio-oto-renal syndrome
c.1141-12A>G Multiple submitters branchiootic syndrome 1
c.1360+2C>T Multiple submitters otofaciocervical syndrome 1
c.273-3T>C Multiple submitters branchio-oto-renal syndrome
c.418+5G>A Multiple submitters branchio-oto-renal syndrome
c.419-10A>G Multiple submitters otofaciocervical syndrome 1
c.827-8T>A Multiple submitters branchiootic syndrome 1
c.-24G>T Multiple submitters branchiootic syndrome 1
c.*117G>A Multiple submitters branchiootic syndrome 1
p.Ala463Thr Multiple submitters branchio-oto-renal syndrome ⚠
p.Ala482Val Multiple submitters branchio-oto-renal syndrome ⚠
p.Ala485Val Multiple submitters branchio-oto-renal syndrome ⚠
p.Ala508Val Multiple submitters branchiootic syndrome 1 ⚠
p.Ala53Val Multiple submitters branchio-oto-renal syndrome ⚠
p.Ala568Val Multiple submitters branchio-oto-renal syndrome ⚠
p.Arg294Gln Multiple submitters branchio-oto-renal syndrome ⚠
p.Arg306Trp Multiple submitters branchiootic syndrome 1 ⚠
p.Arg425Gly Multiple submitters branchio-oto-renal syndrome ⚠
p.Arg425Trp Multiple submitters branchio-oto-renal syndrome ⚠
p.Arg432Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg440Trp Multiple submitters branchio-oto-renal syndrome ⚠
p.Arg573Gly Multiple submitters branchiootic syndrome 1 ⚠
p.Asn231Ser Multiple submitters branchio-oto-renal syndrome ⚠
p.Asn38Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp476Asn Multiple submitters branchiootic syndrome 1 ⚠
p.Gln183Arg Multiple submitters otofaciocervical syndrome 1 ⚠
p.Gln397Arg Multiple submitters branchio-oto-renal syndrome ⚠
p.Gly396Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly427Ser Multiple submitters branchiootic syndrome 1 ⚠
p.Gly555Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly557Ala Multiple submitters branchio-oto-renal syndrome ⚠
p.Gly59Arg Multiple submitters branchio-oto-renal syndrome ⚠
p.Gly66Val Multiple submitters ⚠
p.His490Asp Multiple submitters branchio-oto-renal syndrome ⚠
p.Ile195Met Multiple submitters Inborn genetic diseases ⚠
p.Ile30Val Multiple submitters ⚠
p.Ile444Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile69Thr Multiple submitters branchio-oto-renal syndrome ⚠
p.Ile97Val Multiple submitters branchio-oto-renal syndrome ⚠
p.Leu164Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu420Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys442Arg Multiple submitters branchiootorenal syndrome 1 ⚠
p.Lys566Arg Multiple submitters branchio-oto-renal syndrome ⚠
p.Pro179Leu Multiple submitters branchio-oto-renal syndrome ⚠
p.Pro234Leu Multiple submitters EYA1-related disorder ⚠
p.Ser157Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser400Gly Multiple submitters branchio-oto-renal syndrome ⚠
p.Ser528Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser73Asn Multiple submitters branchio-oto-renal syndrome ⚠
p.Thr271Ser Multiple submitters branchio-oto-renal syndrome ⚠
p.Thr406Arg Multiple submitters branchio-oto-renal syndrome ⚠
p.Thr79Ala Multiple submitters branchio-oto-renal syndrome ⚠
p.Tyr230Cys Multiple submitters branchio-oto-renal syndrome ⚠
p.Tyr235Phe Multiple submitters Inborn genetic diseases ⚠
p.Tyr277Cys Multiple submitters otofaciocervical syndrome 1 ⚠
p.Tyr438Cys Multiple submitters branchio-oto-renal syndrome ⚠
p.Tyr438Phe Multiple submitters branchio-oto-renal syndrome ⚠
p.Val324Ala Multiple submitters branchiootorenal syndrome 1 ⚠
p.Val390Ala Multiple submitters branchio-oto-renal syndrome ⚠
c.1050+4A>C Single submitter
c.1051-10_1051-8del Single submitter
c.1051-6T>G Single submitter
c.1140+3A>T Single submitter branchio-oto-renal syndrome
c.1140+4A>C Single submitter branchio-oto-renal syndrome
c.1140+5G>C Single submitter
c.1199+19G>A Single submitter branchiootic syndrome 1
c.1199+3G>A Single submitter branchio-oto-renal syndrome
c.1199+4A>C Single submitter branchio-oto-renal syndrome
c.125-9T>G Single submitter branchiootic syndrome 1
c.1360+5G>C Single submitter branchio-oto-renal syndrome
c.1360+6T>G Single submitter branchio-oto-renal syndrome
c.1475+6del Single submitter branchio-oto-renal syndrome
c.1598-32_1598-8del Single submitter
c.1598-4C>G Single submitter
c.1698+14G>A Single submitter otofaciocervical syndrome 1
c.1699-2_1701del Single submitter branchiootorenal syndrome 1
c.202+5G>C Single submitter branchio-oto-renal syndrome
c.203-15G>T Single submitter branchiootic syndrome 1
c.273-3_273-1del Single submitter branchiootorenal syndrome 1
c.34-5646_34-5645dup Single submitter
c.418+3G>A Single submitter branchiootic syndrome 1
c.418+3G>C Single submitter branchio-oto-renal syndrome
c.418+6T>G Single submitter
c.419-5T>C Single submitter branchio-oto-renal syndrome
c.556+5G>C Single submitter branchiootic syndrome 1
c.557-13C>T Single submitter branchiootic syndrome 1
c.966+4C>G Single submitter branchio-oto-renal syndrome
c.966+5G>T Single submitter
c.967-16G>A Single submitter branchiootic syndrome 1
c.-155G>A Single submitter branchiootic syndrome 1
c.-173G>T Single submitter otofaciocervical syndrome 1
c.-188C>T Single submitter otofaciocervical syndrome 1
c.-192G>A Single submitter otofaciocervical syndrome 1
c.-242T>G Single submitter otofaciocervical syndrome 1
c.-263C>T Single submitter branchiootic syndrome 1
c.-326G>T Single submitter branchiootic syndrome 1
c.-340G>C Single submitter otofaciocervical syndrome 1
c.-429G>A Single submitter branchiootic syndrome 1
c.-454G>A Single submitter branchiootic syndrome 1
c.-49A>G Single submitter otofaciocervical syndrome 1
c.-54-2A>G Single submitter
c.-75G>C Single submitter branchiootic syndrome 1
c.*1126T>C Single submitter otofaciocervical syndrome 1
c.*1229G>A Single submitter otofaciocervical syndrome 1
c.*1275G>A Single submitter branchiootic syndrome 1
c.*1284C>A Single submitter branchiootic syndrome 1
c.*1297A>G Single submitter branchiootic syndrome 1
c.*1391G>A Single submitter branchiootic syndrome 1
c.*1529C>T Single submitter otofaciocervical syndrome 1
c.*1543T>G Single submitter branchiootic syndrome 1
c.*1561A>G Single submitter otofaciocervical syndrome 1
c.*1598A>C Single submitter branchiootic syndrome 1
c.*1672T>A Single submitter branchiootic syndrome 1
c.*442G>A Single submitter branchiootic syndrome 1
c.*451C>T Single submitter otofaciocervical syndrome 1
c.*545C>T Single submitter branchiootic syndrome 1
c.*70G>A Single submitter branchiootic syndrome 1
c.*755A>T Single submitter branchiootic syndrome 1
c.*848G>A Single submitter branchiootic syndrome 1
c.*866C>T Single submitter branchiootic syndrome 1
c.*86C>A Single submitter otofaciocervical syndrome 1
p.Ala107Val Single submitter Inborn genetic diseases ⚠
p.Ala121Ser Single submitter Inborn genetic diseases ⚠
p.Ala178Val Single submitter branchiootic syndrome 1 ⚠
p.Ala227Pro Single submitter branchiootic syndrome 1 ⚠
p.Ala413Val Single submitter Inborn genetic diseases ⚠
p.Ala416Thr Single submitter branchio-oto-renal syndrome ⚠
p.Ala482Ser Single submitter Monogenic hearing loss ⚠
p.Ala529Thr Single submitter Inborn genetic diseases ⚠
p.Ala564Pro Single submitter ⚠
p.Ala564Ser Single submitter ⚠
p.Ala68Gly Single submitter otofaciocervical syndrome 1 ⚠
p.Arg347Ser Single submitter branchiootic syndrome 1 ⚠
p.Arg361Pro Single submitter branchio-oto-renal syndrome ⚠
p.Arg437His Single submitter ⚠
p.Arg468Gly Single submitter ⚠
p.Arg492Pro Single submitter branchio-oto-renal syndrome ⚠
p.Arg492Trp Single submitter branchio-oto-renal syndrome ⚠
p.Arg540Gly Single submitter branchio-oto-renal syndrome ⚠
p.Arg573Ser Single submitter branchiootorenal syndrome 1 ⚠
p.Asn209Ser Single submitter branchiootic syndrome 1 ⚠
p.Asn253Ser Single submitter ⚠
p.Asn368Ser Single submitter branchiootorenal syndrome 1 ⚠
p.Asn497His Single submitter ⚠
p.Asn497Tyr Single submitter branchio-oto-renal syndrome ⚠
p.Asn525Ile Single submitter branchiootorenal syndrome 1 ⚠
p.Asn525Lys Single submitter ⚠
p.Asn63Ile Single submitter branchio-oto-renal syndrome ⚠
p.Asn91Asp Single submitter Inborn genetic diseases ⚠
p.Asp272Gly Single submitter branchiootic syndrome 1 ⚠
p.Asp293Val Single submitter branchiootic syndrome 1
p.Asp300= Single submitter
p.Asp330Gly Single submitter ⚠
p.Asp351Glu Single submitter ⚠
p.Asp389Gly Single submitter ⚠
p.Asp393Ala Single submitter branchiootic syndrome 1 ⚠
p.Asp429Glu Single submitter Inborn genetic diseases ⚠
p.Asp429His Single submitter Inborn genetic diseases ⚠
p.Asp58Asn Single submitter branchiootic syndrome 1 ⚠
p.Cys382Tyr Single submitter ⚠
p.Cys419Arg Single submitter Inborn genetic diseases ⚠
p.Cys537Arg Single submitter branchio-oto-renal syndrome ⚠
p.Gln129His Single submitter ⚠
p.Gln160Pro Single submitter branchio-oto-renal syndrome ⚠
p.Gln228Arg Single submitter Inborn genetic diseases
p.Gln257= Single submitter branchiootic syndrome 1
p.Gln257His Single submitter Inborn genetic diseases ⚠
p.Gln562_Gly563insGln Single submitter branchiootic syndrome 1
p.Glu363Gly Single submitter ⚠
p.Glu364Ala Single submitter branchiootorenal syndrome 1 ⚠
p.Glu364Asp Single submitter ⚠
p.Glu41= Single submitter branchio-oto-renal syndrome
p.Glu561Gln Single submitter ⚠
p.Gly167Asp Single submitter Inborn genetic diseases
p.Gly207Val Single submitter branchiootic syndrome 1 ⚠
p.Gly222Cys Single submitter branchio-oto-renal syndrome ⚠
p.Gly349Val Single submitter ⚠
p.Gly396Glu Single submitter branchiootorenal syndrome 1 ⚠
p.Gly39Asp Single submitter branchio-oto-renal syndrome ⚠
p.Gly408Asp Single submitter branchio-oto-renal syndrome ⚠
p.Gly457Val Single submitter Inborn genetic diseases ⚠
p.Gly557Val Single submitter Inborn genetic diseases ⚠
p.Gly66Cys Single submitter branchiootic syndrome 1 ⚠
p.His10Arg Single submitter ⚠
p.His337Tyr Single submitter branchio-oto-renal syndrome ⚠
p.His373Arg Single submitter Inborn genetic diseases ⚠
p.His386Leu Single submitter ⚠
p.His96Arg Single submitter
p.Ile287Thr Single submitter Inborn genetic diseases
p.Ile287Val Single submitter Inborn genetic diseases ⚠
p.Ile334_Phe336del Single submitter
p.Ile387Arg Single submitter branchio-oto-renal syndrome ⚠
p.Ile444Val Single submitter branchio-oto-renal syndrome ⚠
p.Ile471Thr Single submitter ⚠
p.Ile541Val Single submitter ⚠
p.Ile542Asn Single submitter branchiootic syndrome 1 ⚠
p.Ile97Ser Single submitter Inborn genetic diseases ⚠
p.Leu13Val Single submitter branchiootic syndrome 1 ⚠
p.Leu295Trp Single submitter Inborn genetic diseases ⚠
p.Leu295Val Single submitter ⚠
p.Leu358His Single submitter Inborn genetic diseases ⚠
p.Leu434Ser Single submitter Inborn genetic diseases ⚠
p.Leu479Phe Single submitter ⚠
p.Leu483Met Single submitter Inborn genetic diseases ⚠
p.Leu509Met Single submitter branchio-oto-renal syndrome ⚠
p.Leu580Pro Single submitter branchio-oto-renal syndrome ⚠
p.Leu592Arg Single submitter branchio-oto-renal syndrome ⚠
p.Lys288Asn Single submitter ⚠
p.Lys302Asn Single submitter branchio-oto-renal syndrome ⚠
p.Lys433Asn Single submitter branchio-oto-renal syndrome ⚠
p.Lys43Thr Single submitter branchio-oto-renal syndrome ⚠
p.Lys566Asn Single submitter branchiootic syndrome 1 ⚠
p.Met106Thr Single submitter
p.Met106Val Single submitter ⚠
p.Met118Val Single submitter branchio-oto-renal syndrome ⚠
p.Met1Val Single submitter branchiootic syndrome 1
p.Met240Val Single submitter branchio-oto-renal syndrome ⚠
p.Met3Arg Single submitter branchio-oto-renal syndrome ⚠
p.Met3Ile Single submitter branchiootic syndrome 1 ⚠
p.Met47Ile Single submitter Inborn genetic diseases ⚠
p.Phe114Ser Single submitter ⚠
p.Phe325Ser Single submitter ⚠
p.Phe404Cys Single submitter ⚠
p.Pro101Leu Single submitter branchiootic syndrome 1 ⚠
p.Pro133Leu Single submitter hearing loss disorder ⚠
p.Pro158Ser Single submitter Inborn genetic diseases ⚠
p.Pro175Arg Single submitter Inborn genetic diseases ⚠
p.Pro175His Single submitter branchiootic syndrome 1 ⚠
p.Pro175Leu Single submitter ⚠
p.Pro216Leu Single submitter branchio-oto-renal syndrome ⚠
p.Pro236Thr Single submitter Inborn genetic diseases ⚠
p.Pro261Thr Single submitter branchio-oto-renal syndrome ⚠
p.Pro315Leu Single submitter ⚠
p.Pro315Ser Single submitter branchiootic syndrome 1 ⚠
p.Pro570Arg Single submitter ⚠
p.Ser165Asn Single submitter branchiootic syndrome 1 ⚠
p.Ser193= Single submitter
p.Ser19Cys Single submitter branchio-oto-renal syndrome ⚠
p.Ser19Tyr Single submitter branchiootic syndrome 1 ⚠
p.Ser206Phe Single submitter Inborn genetic diseases ⚠
p.Ser267Arg Single submitter Inborn genetic diseases ⚠
p.Ser267Asn Single submitter ⚠
p.Ser415Asn Single submitter
p.Ser48Asn Single submitter Inborn genetic diseases ⚠
p.Ser48Gly Single submitter ⚠
p.Ser491Cys Single submitter ⚠
p.Ser491Phe Single submitter branchio-oto-renal syndrome ⚠
p.Ser54Leu Single submitter branchio-oto-renal syndrome ⚠
p.Ser67= Single submitter
p.Ser83Cys Single submitter branchio-oto-renal syndrome ⚠
p.Thr100= Single submitter
p.Thr100Ile Single submitter ⚠
p.Thr115Asn Single submitter branchio-oto-renal syndrome ⚠
p.Thr126= Single submitter branchiootic syndrome 1
p.Thr148Ala Single submitter ⚠
p.Thr168Ser Single submitter Inborn genetic diseases ⚠
p.Thr172Ile Single submitter branchio-oto-renal syndrome ⚠
p.Thr197Ala Single submitter branchiootic syndrome 1 ⚠
p.Thr197Ile Single submitter ⚠
p.Thr248Arg Single submitter Inborn genetic diseases
p.Thr249Ile Single submitter branchiootic syndrome 1 ⚠
p.Thr252Ile Single submitter branchio-oto-renal syndrome ⚠
p.Thr271Ala Single submitter Inborn genetic diseases ⚠
p.Thr274Ile Single submitter branchio-oto-renal syndrome ⚠
p.Thr274Pro Single submitter branchio-oto-renal syndrome ⚠
p.Thr44_Glu45insTer Single submitter EYA1-related disorder
p.Thr503= Single submitter otofaciocervical syndrome 1
p.Trp430Arg Single submitter branchiootic syndrome 1 ⚠
p.Tyr124Cys Single submitter ⚠
p.Tyr139= Single submitter branchio-oto-renal syndrome
p.Tyr139Cys Single submitter branchiootic syndrome 1 ⚠
p.Tyr139His Single submitter branchiootic syndrome 1 ⚠
p.Tyr348Phe Single submitter branchiootic syndrome 1 ⚠
p.Tyr515His Single submitter ⚠
p.Tyr591Asn Single submitter EYA1-related disorder ⚠
p.Tyr88His Single submitter
p.Val270Ala Single submitter branchiootic syndrome 1 ⚠
p.Val324Gly Single submitter ⚠
p.Val324Leu Single submitter branchiootic syndrome 1 ⚠
p.Val441Ile Single submitter Inborn genetic diseases ⚠
p.Val520_Asn525del Single submitter branchiootic syndrome 1
p.Val549Met Single submitter branchiootic syndrome 1 ⚠
p.Val550Met Single submitter ⚠
p.Val558Ala Single submitter branchio-oto-renal syndrome ⚠
p.Arg304His No assertion criteria EYA1-related disorder ⚠
p.Arg361Gln No assertion criteria EYA1-related disorder ⚠
p.Asp330Tyr No assertion criteria branchiootorenal syndrome 1 ⚠
p.Ile280Leu No assertion criteria EYA1-related disorder ⚠
p.Ile387Thr No assertion criteria EYA1-related disorder ⚠
p.Leu369Phe No assertion criteria prostate cancer ⚠
p.Ser138Thr No assertion criteria EYA1-related disorder ⚠