EPHA10 — 171 ClinVar variants

All ClinVar germline EPHA10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →

1 Pathogenic · 2 Benign · 7 Likely benign · 161 Uncertain significance

Full EPHA10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 160

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 lean, ClinVar uncertain 83

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 77

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

All EPHA10 variants

Pathogenic 1

c.-81_-73delinsAGC No assertion criteria Nonsyndromic Deafness

Benign 2

p.Ala532Thr Multiple submitters
p.Ser574Leu Multiple submitters

Likely benign 7

p.Pro534= Multiple submitters
p.Arg618His Single submitter ⚠
p.Gln995Arg Single submitter
p.Leu412= Single submitter
p.Leu914Pro Single submitter
p.Pro933= Single submitter
p.Thr73= Single submitter

Uncertain significance 161

p.Ala200Ser Single submitter ⚠
p.Ala200Val Single submitter ⚠
p.Ala213Thr Single submitter ⚠
p.Ala323Glu Single submitter ⚠
p.Ala388Thr Single submitter ⚠
p.Ala403Glu Single submitter ⚠
p.Ala419Thr Single submitter ⚠
p.Ala443Val Single submitter ⚠
p.Ala511Val Single submitter ⚠
p.Ala540Asp Single submitter ⚠
p.Ala632Pro Single submitter ⚠
p.Ala637Thr Single submitter ⚠
p.Ala814Thr Single submitter ⚠
p.Ala940Thr Single submitter ⚠
p.Ala955Val Single submitter ⚠
p.Arg139Leu Single submitter ⚠
p.Arg143Cys Single submitter ⚠
p.Arg148Gln Single submitter ⚠
p.Arg148Gly Single submitter ⚠
p.Arg150Cys Single submitter ⚠
p.Arg150Gly Single submitter ⚠
p.Arg150Ser Single submitter ⚠
p.Arg212Cys Single submitter ⚠
p.Arg29Leu Single submitter ⚠
p.Arg324Cys Single submitter ⚠
p.Arg324Leu Single submitter ⚠
p.Arg358His Single submitter ⚠
p.Arg368Ser Single submitter ⚠
p.Arg379Leu Single submitter ⚠
p.Arg379Ser Single submitter ⚠
p.Arg382Cys Single submitter ⚠
p.Arg401Pro Single submitter ⚠
p.Arg530Trp Single submitter ⚠
p.Arg560Gly Single submitter ⚠
p.Arg669His Single submitter ⚠
p.Arg708Trp Single submitter ⚠
p.Arg715Gln Single submitter ⚠
p.Arg72Leu Single submitter ⚠
p.Arg737Trp Single submitter ⚠
p.Arg769Gln Single submitter ⚠
p.Arg769Trp Single submitter ⚠
p.Arg774Leu Single submitter ⚠
p.Arg791Trp Single submitter ⚠
p.Arg796Pro Single submitter ⚠
p.Arg807Trp Single submitter ⚠
p.Arg864Gln Single submitter ⚠
p.Arg864Trp Single submitter ⚠
p.Arg869Gly Single submitter ⚠
p.Arg927Cys Single submitter ⚠
p.Arg927His Single submitter ⚠
p.Arg949His Single submitter ⚠
p.Asn127His Single submitter ⚠
p.Asn518Ser Single submitter ⚠
p.Asn870Lys Single submitter ⚠
p.Asp153Asn Single submitter ⚠
p.Asp458Tyr Single submitter ⚠
p.Asp561Glu Single submitter ⚠
p.Asp601Gly Single submitter ⚠
p.Asp685Asn Single submitter ⚠
p.Asp68Asn Single submitter ⚠
p.Asp781Asn Single submitter ⚠
p.Cys316Tyr Single submitter ⚠
p.Cys334Gly Single submitter ⚠
p.Cys871Ser Single submitter ⚠
p.Cys917Tyr Single submitter ⚠
p.Cys948Ser Single submitter ⚠
p.Gln1000Pro Single submitter ⚠
p.Gln345Glu Single submitter ⚠
p.Gln444Arg Single submitter ⚠
p.Gln541Arg Single submitter ⚠
p.Gln624Ter Single submitter
p.Gln741His Single submitter ⚠
p.Gln75Glu Single submitter ⚠
p.Gln895Glu Single submitter ⚠
p.Glu179Asp Single submitter ⚠
p.Glu491Gln Single submitter ⚠
p.Glu496Gln Single submitter ⚠
p.Glu606Lys Single submitter ⚠
p.Glu694Lys Single submitter ⚠
p.Glu724Lys Single submitter ⚠
p.Glu739Lys Single submitter ⚠
p.Glu798Lys Single submitter ⚠
p.Glu967Lys Single submitter ⚠
p.Glu985Ala Single submitter ⚠
p.Gly140Ala Single submitter ⚠
p.Gly146Cys Single submitter ⚠
p.Gly181Ter Single submitter hearing loss, autosomal dominant 88
p.Gly418Asp Single submitter ⚠
p.Gly450Val Single submitter ⚠
p.Gly553Glu Single submitter ⚠
p.Gly668Arg Single submitter ⚠
p.Gly668Ser Single submitter ⚠
p.Gly690Arg Single submitter ⚠
p.Gly792Asp Single submitter ⚠
p.Gly888Asp Single submitter ⚠
p.Gly91Ser Single submitter ⚠
p.Gly960Glu Single submitter ⚠
p.Gly990Arg Single submitter ⚠
p.His414Arg Single submitter ⚠
p.His603Arg Single submitter ⚠
p.His677Tyr Single submitter ⚠
p.His8Gln Single submitter ⚠
p.Ile37Phe Single submitter ⚠
p.Leu576Phe Single submitter ⚠
p.Leu987Pro Single submitter ⚠
p.Lys520Asn Single submitter ⚠
p.Lys613Glu Single submitter ⚠
p.Lys911Arg Single submitter ⚠
p.Met726Val Single submitter ⚠
p.Phe543Leu Single submitter ⚠
p.Phe820Cys Single submitter ⚠
p.Phe929Leu Single submitter ⚠
p.Pro182Arg Single submitter ⚠
p.Pro248Thr Single submitter ⚠
p.Pro252Gln Single submitter ⚠
p.Pro27Arg Single submitter ⚠
p.Pro27Leu Single submitter ⚠
p.Pro294Ser Single submitter ⚠
p.Pro361Leu Single submitter ⚠
p.Pro391Leu Single submitter ⚠
p.Pro451Leu Single submitter ⚠
p.Pro592Ser Single submitter ⚠
p.Pro815Ser Single submitter ⚠
p.Pro868Leu Single submitter ⚠
p.Pro910Leu Single submitter ⚠
p.Ser203Leu Single submitter ⚠
p.Ser228Asn Single submitter ⚠
p.Ser231Tyr Single submitter ⚠
p.Ser250Asn Single submitter ⚠
p.Ser270Asn Single submitter ⚠
p.Ser270Cys Single submitter ⚠
p.Ser313Phe Single submitter ⚠
p.Ser347Thr Single submitter ⚠
p.Ser369Leu Single submitter ⚠
p.Ser584Ile Single submitter ⚠
p.Ser625Ile Single submitter ⚠
p.Ser644Asn Single submitter ⚠
p.Ser901Arg Single submitter ⚠
p.Ser953Gly Single submitter ⚠
p.Ser989Gly Single submitter ⚠
p.Thr121Ala Single submitter ⚠
p.Thr175Ile Single submitter ⚠
p.Thr224Asn Single submitter ⚠
p.Thr224Ser Single submitter ⚠
p.Thr372Ile Single submitter ⚠
p.Thr441Asn Single submitter ⚠
p.Thr509Arg Single submitter ⚠
p.Tyr950Cys Single submitter ⚠
p.Val128Ile Single submitter ⚠
p.Val177Ala Single submitter ⚠
p.Val241Gly Single submitter ⚠
p.Val241Met Single submitter ⚠
p.Val317Met Single submitter ⚠
p.Val431Ala Single submitter ⚠
p.Val516Ile Single submitter ⚠
p.Val582Met Single submitter ⚠
p.Val676Met Single submitter ⚠
p.Val707Leu Single submitter ⚠
p.Val707Met Single submitter ⚠
p.Val767Ile Single submitter ⚠
p.Val829Met Single submitter ⚠