EPHA6 — 128 ClinVar variants

All ClinVar germline EPHA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

2 Benign · 3 Likely benign · 123 Uncertain significance

Full EPHA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All EPHA6 variants

Benign 2

p.Ala805Val Multiple submitters
p.Thr72= Multiple submitters

Likely benign 3

p.Ala614= Single submitter
p.Met224Val Single submitter
p.Val1077Met Single submitter

Uncertain significance 123

p.Ala116Val Single submitter
p.Ala14Thr Single submitter
p.Ala190Val Single submitter
p.Ala382Pro Single submitter
p.Ala614Val Single submitter
p.Ala636Thr Single submitter
p.Ala646Gly Single submitter
p.Ala924Val Single submitter
p.Arg10Lys Single submitter
p.Arg1108Gln Single submitter
p.Arg1117His Single submitter
p.Arg188Cys Single submitter
p.Arg306His Single submitter
p.Arg327Gln Single submitter
p.Arg42Leu Single submitter
p.Arg726His Single submitter
p.Arg766Gln Single submitter
p.Arg78His Single submitter
p.Arg874Gln Single submitter
p.Asn1012Asp Single submitter
p.Asn127His Single submitter
p.Asn161Ser Single submitter
p.Asn564Lys Single submitter
p.Asn850Ser Single submitter
p.Asp1040Asn Single submitter
p.Asp189Glu Single submitter
p.Asp319Asn Single submitter
p.Asp347Asn Single submitter
p.Asp861His Single submitter
p.Asp978Ala Single submitter
p.Cys215Arg Single submitter
p.Cys35Trp Single submitter
p.Gln1008His Single submitter
p.Gln639His Single submitter
p.Gln73Glu Single submitter
p.Gln767Arg Single submitter
p.Gln977Glu Single submitter
p.Glu1010Lys Single submitter
p.Glu1125Lys Single submitter
p.Glu56Gly Single submitter
p.Glu59Lys Single submitter
p.Gly1070Arg Single submitter
p.Gly368Val Single submitter
p.Gly383Glu Single submitter
p.Gly477Asp Single submitter
p.Gly477Ser Single submitter
p.Gly667Val Single submitter
p.Gly732Ala Single submitter
p.Gly871Arg Single submitter
p.His1005Arg Single submitter
p.His123Gln Single submitter
p.His486Arg Single submitter
p.His686Tyr Single submitter
p.His714Arg Single submitter
p.His714Leu Single submitter
p.His81Arg Single submitter
p.Ile1020Val Single submitter
p.Ile1103Thr Single submitter
p.Ile1109Met Single submitter
p.Ile242Val Single submitter
p.Ile273Met Single submitter
p.Ile490Met Single submitter
p.Ile509Met Single submitter
p.Ile801Thr Single submitter
p.Ile835Asn Single submitter
p.Ile983Val Single submitter
p.Leu1034His Single submitter
p.Lys216Arg Single submitter
p.Lys676Asn Single submitter
p.Lys67Asn Single submitter
p.Lys749Glu Single submitter
p.Lys931Arg Single submitter
p.Met1120Val Single submitter
p.Met224Leu Single submitter
p.Met635Arg Single submitter
p.Met886Ile Single submitter
p.Phe482Ile Single submitter
p.Phe499Ile Single submitter
p.Pro1052Leu Single submitter
p.Pro112Leu Single submitter
p.Pro13Ser Single submitter
p.Pro272Leu Single submitter
p.Pro353Ala Single submitter
p.Pro38Arg Single submitter
p.Pro46Ser Single submitter
p.Pro50Thr Single submitter
p.Pro709Gln Single submitter
p.Pro799Leu Single submitter
p.Pro822Gln Single submitter
p.Pro822Leu Single submitter
p.Pro832Ser Single submitter
p.Pro833Leu Single submitter
p.Pro921Leu Single submitter
p.Ser11Arg Single submitter
p.Ser125Phe Single submitter
p.Ser226Leu Single submitter
p.Ser402Phe Single submitter
p.Ser460Arg Single submitter
p.Ser710Phe Single submitter
p.Ser809Arg Single submitter
p.Ser855Cys Single submitter
p.Thr136Ala Single submitter
p.Thr155Ile Single submitter
p.Thr214Ala Single submitter
p.Thr532Met Single submitter
p.Thr583Ile Single submitter
p.Thr597Lys Single submitter
p.Thr615Ala Single submitter
p.Thr72Ala Single submitter
p.Thr72Ser Single submitter
p.Thr75Ser Single submitter
p.Tyr925Phe Single submitter
p.Val1038Met Single submitter
p.Val130Met Single submitter
p.Val137Leu Single submitter
p.Val270Met Single submitter
p.Val305Ile Single submitter
p.Val433Phe Single submitter
p.Val494Leu Single submitter
p.Val500Ala Single submitter
p.Val644Met Single submitter
p.Val657Ile Single submitter
p.Val908Ile Single submitter