EPHA8 — 190 ClinVar variants
All ClinVar germline EPHA8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 182 flagged for review →
4 Benign · 1 Benign/Likely benign · 5 Likely benign · 180 Uncertain significance
Full EPHA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 182
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 97
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPHA8 p.Ala135Ser Uncertain significance Single submitter
- EPHA8 p.Ala150Thr Uncertain significance Single submitter
- EPHA8 p.Ala184Val Uncertain significance Single submitter
- EPHA8 p.Ala372Thr Uncertain significance Single submitter
- EPHA8 p.Ala451Val Uncertain significance Single submitter
- EPHA8 p.Ala622Thr Uncertain significance Single submitter
- EPHA8 p.Ala685Thr Uncertain significance Single submitter
- EPHA8 p.Ala866Val Uncertain significance Single submitter
- EPHA8 p.Ala906Ser Uncertain significance Single submitter
- EPHA8 p.Ala906Thr Uncertain significance Single submitter
- EPHA8 p.Ala952Thr Uncertain significance Single submitter
- EPHA8 p.Arg1002Cys Uncertain significance Single submitter
- EPHA8 p.Arg1002His Uncertain significance Single submitter
- EPHA8 p.Arg1003Gln Uncertain significance Single submitter
- EPHA8 p.Arg235Gly Uncertain significance Single submitter
- EPHA8 p.Arg269Gln Uncertain significance Single submitter
- EPHA8 p.Arg315His Uncertain significance Single submitter
- EPHA8 p.Arg515Cys Uncertain significance Single submitter
- EPHA8 p.Arg537Gly Uncertain significance Single submitter
- EPHA8 p.Arg624Cys Uncertain significance Single submitter
- EPHA8 p.Arg660Gln Uncertain significance Single submitter
- EPHA8 p.Arg698His Uncertain significance Single submitter
- EPHA8 p.Arg764Gly Uncertain significance Single submitter
- EPHA8 p.Arg845Gln Uncertain significance Single submitter
- EPHA8 p.Arg918Gln Uncertain significance Single submitter
- EPHA8 p.Arg946Gln Uncertain significance Single submitter
- EPHA8 p.Arg964Gly Uncertain significance Single submitter
- EPHA8 p.Arg971His Uncertain significance Single submitter
- EPHA8 p.Asn81Lys Uncertain significance Single submitter
- EPHA8 p.Asn844Lys Uncertain significance Single submitter
- EPHA8 p.Asp146Tyr Uncertain significance Single submitter
- EPHA8 p.Asp151Tyr Uncertain significance Single submitter
- EPHA8 p.Asp922Gly Uncertain significance Single submitter
- EPHA8 p.Asp949Glu Uncertain significance Single submitter
- EPHA8 p.Cys650Ser Uncertain significance Single submitter
- EPHA8 p.Gln485His Uncertain significance Single submitter
- EPHA8 p.Gln585Pro Uncertain significance Single submitter
- EPHA8 p.Gln80Arg Uncertain significance Single submitter
- EPHA8 p.Gln981His Uncertain significance Single submitter
- EPHA8 p.Glu579Lys Uncertain significance Single submitter
- EPHA8 p.Glu618Asp Uncertain significance Single submitter
- EPHA8 p.Glu675Asp Uncertain significance Single submitter
- EPHA8 p.Gly1000Arg Uncertain significance Single submitter
- EPHA8 p.Gly160Ser Uncertain significance Single submitter
- EPHA8 p.Gly251Ser Uncertain significance Single submitter
- EPHA8 p.Gly251Val Uncertain significance Single submitter
- EPHA8 p.Gly341Trp Uncertain significance Single submitter
- EPHA8 p.Gly382Ser Uncertain significance Single submitter
- EPHA8 p.Gly468Ser Uncertain significance Single submitter
- EPHA8 p.Gly553Val Uncertain significance Single submitter
- EPHA8 p.Gly743Arg Uncertain significance Single submitter
- EPHA8 p.Gly930Ser Uncertain significance Single submitter
- EPHA8 p.Gly955Arg Uncertain significance Single submitter
- EPHA8 p.Gly955Glu Uncertain significance Single submitter
- EPHA8 p.His236Asp Uncertain significance Single submitter
- EPHA8 p.His41Tyr Uncertain significance Single submitter
- EPHA8 p.His583Tyr Uncertain significance Single submitter
- EPHA8 p.Ile433Val Uncertain significance Single submitter
- EPHA8 p.Ile469Val Uncertain significance Single submitter
- EPHA8 p.Ile637Val Uncertain significance Single submitter
- EPHA8 p.Ile734Val Uncertain significance Single submitter
- EPHA8 p.Leu923Val Uncertain significance Single submitter
- EPHA8 p.Leu939Val Uncertain significance Single submitter
- EPHA8 p.Lys476Asn Uncertain significance Single submitter
- EPHA8 p.Lys533Ile Uncertain significance Single submitter
- EPHA8 p.Lys877Arg Uncertain significance Single submitter
- EPHA8 p.Met527Ile Uncertain significance Single submitter
- EPHA8 p.Met582Leu Uncertain significance Single submitter
- EPHA8 p.Met735Val Uncertain significance Single submitter
- EPHA8 p.Met740Thr Uncertain significance Single submitter
- EPHA8 p.Met871Ile Uncertain significance Single submitter
- EPHA8 p.Met965Val Uncertain significance Single submitter
- EPHA8 p.Phe154Leu Uncertain significance Single submitter
- EPHA8 p.Phe574Val Uncertain significance Single submitter
- EPHA8 p.Pro256Thr Uncertain significance Single submitter
- EPHA8 p.Pro440Leu Uncertain significance Single submitter
- EPHA8 p.Pro466Leu Uncertain significance Single submitter
- EPHA8 p.Pro607Thr Uncertain significance Single submitter
- EPHA8 p.Pro912Leu Uncertain significance Single submitter
- EPHA8 p.Pro913Ser Uncertain significance Single submitter
- EPHA8 p.Ser129Trp Uncertain significance Single submitter
- EPHA8 p.Ser172Asn Uncertain significance Single submitter
- EPHA8 p.Ser248Gly Uncertain significance Single submitter
- EPHA8 p.Ser38Leu Uncertain significance Single submitter
- EPHA8 p.Ser391Arg Uncertain significance Single submitter
- EPHA8 p.Ser77Asn Uncertain significance Single submitter
- EPHA8 p.Thr435Arg Uncertain significance Single submitter
- EPHA8 p.Thr627Ala Uncertain significance Single submitter
- EPHA8 p.Trp54Gly Uncertain significance Single submitter
- EPHA8 p.Tyr201Cys Uncertain significance Single submitter
- EPHA8 p.Tyr750Cys Uncertain significance Single submitter
- EPHA8 p.Val255Leu Uncertain significance Single submitter
- EPHA8 p.Val418Met Uncertain significance Single submitter
- EPHA8 p.Val444Met Uncertain significance Single submitter
- EPHA8 p.Val766Ile Uncertain significance Single submitter
- EPHA8 p.Val935Met Uncertain significance Single submitter
-
EPHA8 p.Arg856His
Uncertain significance
No assertion criteria
High myopia
Predictors split 85
The independent predictors disagree with each other — read with care.
- EPHA8 p.Arg707Cys Benign Multiple submitters
- EPHA8 p.Arg884His Likely benign Multiple submitters
- EPHA8 p.Gly93Ser Uncertain significance Multiple submitters
- EPHA8 p.Ala300Thr Uncertain significance Single submitter
- EPHA8 p.Ala349Val Uncertain significance Single submitter
- EPHA8 p.Ala378Val Uncertain significance Single submitter
- EPHA8 p.Ala438Ser Uncertain significance Single submitter
- EPHA8 p.Ala573Val Uncertain significance Single submitter
- EPHA8 p.Ala859Thr Uncertain significance Single submitter
- EPHA8 p.Ala880Val Uncertain significance Single submitter
- EPHA8 p.Ala967Thr Uncertain significance Single submitter
- EPHA8 p.Ala972Thr Uncertain significance Single submitter
- EPHA8 p.Arg1003Trp Uncertain significance Single submitter
- EPHA8 p.Arg131Cys Uncertain significance Single submitter
- EPHA8 p.Arg171His Uncertain significance Single submitter
- EPHA8 p.Arg235Trp Uncertain significance Single submitter
- EPHA8 p.Arg240Trp Uncertain significance Single submitter
- EPHA8 p.Arg292Cys Uncertain significance Single submitter
- EPHA8 p.Arg447His Uncertain significance Single submitter
- EPHA8 p.Arg450Gln Uncertain significance Single submitter
- EPHA8 p.Arg537Cys Uncertain significance Single submitter
- EPHA8 p.Arg628Gln Uncertain significance Single submitter
- EPHA8 p.Arg628Trp Uncertain significance Single submitter
- EPHA8 p.Arg653Ser Uncertain significance Single submitter
- EPHA8 p.Arg655Trp Uncertain significance Single submitter
- EPHA8 p.Arg679Trp Uncertain significance Single submitter
- EPHA8 p.Arg705His Uncertain significance Single submitter
- EPHA8 p.Arg705Leu Uncertain significance Single submitter
- EPHA8 p.Arg749Cys Uncertain significance Single submitter
- EPHA8 p.Arg749His Uncertain significance Single submitter
- EPHA8 p.Arg759Gln Uncertain significance Single submitter
- EPHA8 p.Arg764Cys Uncertain significance Single submitter
- EPHA8 p.Arg764His Uncertain significance Single submitter
- EPHA8 p.Arg813Cys Uncertain significance Single submitter
- EPHA8 p.Arg837Gln Uncertain significance Single submitter
- EPHA8 p.Arg946Trp Uncertain significance Single submitter
- EPHA8 p.Asn210Ser Uncertain significance Single submitter
- EPHA8 p.Asp271Val Uncertain significance Single submitter
- EPHA8 p.Asp420Asn Uncertain significance Single submitter
- EPHA8 p.Asp788Asn Uncertain significance Single submitter
- EPHA8 p.Asp873Asn Uncertain significance Single submitter
- EPHA8 p.Gln736Glu Uncertain significance Single submitter
- EPHA8 p.Glu128Ala Uncertain significance Single submitter
- EPHA8 p.Glu267Lys Uncertain significance Single submitter
- EPHA8 p.Glu464Gln Uncertain significance Single submitter
- EPHA8 p.Glu464Lys Uncertain significance Single submitter
- EPHA8 p.Glu629Gln Uncertain significance Single submitter
- EPHA8 p.Glu648Asp Uncertain significance Single submitter
- EPHA8 p.Gly501Arg Uncertain significance Single submitter
- EPHA8 p.Gly658Arg Uncertain significance Single submitter
- EPHA8 p.Gly747Ser Uncertain significance Single submitter
- EPHA8 p.Gly797Ser Uncertain significance Single submitter
- EPHA8 p.Gly93Val Uncertain significance Single submitter
- EPHA8 p.Ile145Leu Uncertain significance Single submitter
- EPHA8 p.Ile148Val Uncertain significance Single submitter
- EPHA8 p.Ile188Arg Uncertain significance Single submitter
- EPHA8 p.Ile40Thr Uncertain significance Single submitter
- EPHA8 p.Ile666Leu Uncertain significance Single submitter
- EPHA8 p.Leu143Arg Uncertain significance Single submitter
- EPHA8 p.Leu254Phe Uncertain significance Single submitter
- EPHA8 p.Leu254Val Uncertain significance Single submitter
- EPHA8 p.Leu558Pro Uncertain significance Single submitter
- EPHA8 p.Lys102Gln Uncertain significance Single submitter
- EPHA8 p.Lys982Asn Uncertain significance Single submitter
- EPHA8 p.Met406Arg Uncertain significance Single submitter
- EPHA8 p.Met406Ile Uncertain significance Single submitter
- EPHA8 p.Pro295Thr Uncertain significance Single submitter
- EPHA8 p.Pro320Leu Uncertain significance Single submitter
- EPHA8 p.Pro466Ser Uncertain significance Single submitter
- EPHA8 p.Pro789Ala Uncertain significance Single submitter
- EPHA8 p.Pro913His Uncertain significance Single submitter
- EPHA8 p.Ser215Leu Uncertain significance Single submitter
- EPHA8 p.Ser248Arg Uncertain significance Single submitter
- EPHA8 p.Ser330Leu Uncertain significance Single submitter
- EPHA8 p.Thr117Pro Uncertain significance Single submitter
- EPHA8 p.Thr674Lys Uncertain significance Single submitter
- EPHA8 p.Thr796Ala Uncertain significance Single submitter
- EPHA8 p.Thr796Met Uncertain significance Single submitter
- EPHA8 p.Thr805Met Uncertain significance Single submitter
- EPHA8 p.Tyr610Cys Uncertain significance Single submitter
- EPHA8 p.Val365Met Uncertain significance Single submitter
- EPHA8 p.Val415Ile Uncertain significance Single submitter
- EPHA8 p.Val456Ile Uncertain significance Single submitter
- EPHA8 p.Val499Ile Uncertain significance Single submitter
- EPHA8 p.Val970Met Uncertain significance Single submitter
All EPHA8 variants
Benign 4
- c.2538+11A>G Multiple submitters
- p.Arg707Cys Multiple submitters ⚠
- p.Gly974= Multiple submitters
- p.Tyr508= Multiple submitters
Benign/Likely benign 1
- p.Leu211= Multiple submitters
Likely benign 5
- p.Arg884His Multiple submitters ⚠
- c.1765+7G>T Single submitter
- c.2179-7C>T Single submitter
- p.Glu830= Single submitter
- p.Thr934= Single submitter
Uncertain significance 180
- p.Gly93Ser Multiple submitters ⚠
- p.Ala135Ser Single submitter ⚠
- p.Ala150Thr Single submitter ⚠
- p.Ala184Val Single submitter ⚠
- p.Ala300Thr Single submitter ⚠
- p.Ala349Val Single submitter ⚠
- p.Ala372Thr Single submitter ⚠
- p.Ala378Val Single submitter ⚠
- p.Ala438Ser Single submitter ⚠
- p.Ala451Val Single submitter ⚠
- p.Ala573Val Single submitter ⚠
- p.Ala622Thr Single submitter ⚠
- p.Ala685Thr Single submitter ⚠
- p.Ala859Thr Single submitter ⚠
- p.Ala866Val Single submitter ⚠
- p.Ala880Val Single submitter ⚠
- p.Ala906Ser Single submitter ⚠
- p.Ala906Thr Single submitter ⚠
- p.Ala952Thr Single submitter ⚠
- p.Ala967Thr Single submitter ⚠
- p.Ala972Thr Single submitter ⚠
- p.Arg1002Cys Single submitter ⚠
- p.Arg1002His Single submitter ⚠
- p.Arg1003Gln Single submitter ⚠
- p.Arg1003Trp Single submitter ⚠
- p.Arg131Cys Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Arg235Gly Single submitter ⚠
- p.Arg235Trp Single submitter ⚠
- p.Arg240Trp Single submitter ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg292Cys Single submitter ⚠
- p.Arg315His Single submitter ⚠
- p.Arg447His Single submitter ⚠
- p.Arg450Gln Single submitter ⚠
- p.Arg515Cys Single submitter ⚠
- p.Arg537Cys Single submitter ⚠
- p.Arg537Gly Single submitter ⚠
- p.Arg624Cys Single submitter ⚠
- p.Arg628Gln Single submitter ⚠
- p.Arg628Trp Single submitter ⚠
- p.Arg653Ser Single submitter ⚠
- p.Arg655Trp Single submitter ⚠
- p.Arg660Gln Single submitter ⚠
- p.Arg679Trp Single submitter ⚠
- p.Arg698His Single submitter ⚠
- p.Arg705His Single submitter ⚠
- p.Arg705Leu Single submitter ⚠
- p.Arg749Cys Single submitter ⚠
- p.Arg749His Single submitter ⚠
- p.Arg759Gln Single submitter ⚠
- p.Arg764Cys Single submitter ⚠
- p.Arg764Gly Single submitter ⚠
- p.Arg764His Single submitter ⚠
- p.Arg813Cys Single submitter ⚠
- p.Arg837Gln Single submitter ⚠
- p.Arg845Gln Single submitter ⚠
- p.Arg918Gln Single submitter ⚠
- p.Arg946Gln Single submitter ⚠
- p.Arg946Trp Single submitter ⚠
- p.Arg964Gly Single submitter ⚠
- p.Arg971His Single submitter ⚠
- p.Asn210Ser Single submitter ⚠
- p.Asn81Lys Single submitter ⚠
- p.Asn844Lys Single submitter ⚠
- p.Asp146Tyr Single submitter ⚠
- p.Asp151Tyr Single submitter ⚠
- p.Asp271Val Single submitter ⚠
- p.Asp420Asn Single submitter ⚠
- p.Asp788Asn Single submitter ⚠
- p.Asp873Asn Single submitter ⚠
- p.Asp922Gly Single submitter ⚠
- p.Asp949Glu Single submitter ⚠
- p.Cys650Ser Single submitter ⚠
- p.Gln485His Single submitter ⚠
- p.Gln585Pro Single submitter ⚠
- p.Gln736Glu Single submitter ⚠
- p.Gln80Arg Single submitter ⚠
- p.Gln981His Single submitter ⚠
- p.Glu128Ala Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu464Gln Single submitter ⚠
- p.Glu464Lys Single submitter ⚠
- p.Glu579Lys Single submitter ⚠
- p.Glu618Asp Single submitter ⚠
- p.Glu629Gln Single submitter ⚠
- p.Glu648Asp Single submitter ⚠
- p.Glu675Asp Single submitter ⚠
- p.Gly1000Arg Single submitter ⚠
- p.Gly160Ser Single submitter ⚠
- p.Gly251Ser Single submitter ⚠
- p.Gly251Val Single submitter ⚠
- p.Gly341Trp Single submitter ⚠
- p.Gly382Ser Single submitter ⚠
- p.Gly468Ser Single submitter ⚠
- p.Gly501Arg Single submitter ⚠
- p.Gly553Val Single submitter ⚠
- p.Gly658Arg Single submitter ⚠
- p.Gly743Arg Single submitter ⚠
- p.Gly747Ser Single submitter ⚠
- p.Gly797Ser Single submitter ⚠
- p.Gly930Ser Single submitter ⚠
- p.Gly93Val Single submitter ⚠
- p.Gly955Arg Single submitter ⚠
- p.Gly955Glu Single submitter ⚠
- p.His236Asp Single submitter ⚠
- p.His41Tyr Single submitter ⚠
- p.His583Tyr Single submitter ⚠
- p.Ile145Leu Single submitter ⚠
- p.Ile148Val Single submitter ⚠
- p.Ile188Arg Single submitter ⚠
- p.Ile40Thr Single submitter ⚠
- p.Ile433Val Single submitter ⚠
- p.Ile469Val Single submitter ⚠
- p.Ile637Val Single submitter ⚠
- p.Ile666Leu Single submitter ⚠
- p.Ile734Val Single submitter ⚠
- p.Leu143Arg Single submitter ⚠
- p.Leu254Phe Single submitter ⚠
- p.Leu254Val Single submitter ⚠
- p.Leu558Pro Single submitter ⚠
- p.Leu923Val Single submitter ⚠
- p.Leu939Val Single submitter ⚠
- p.Lys102Gln Single submitter ⚠
- p.Lys476Asn Single submitter ⚠
- p.Lys533Ile Single submitter ⚠
- p.Lys877Arg Single submitter ⚠
- p.Lys982Asn Single submitter ⚠
- p.Met406Arg Single submitter ⚠
- p.Met406Ile Single submitter ⚠
- p.Met527Ile Single submitter ⚠
- p.Met582Leu Single submitter ⚠
- p.Met735Val Single submitter ⚠
- p.Met740Thr Single submitter ⚠
- p.Met871Ile Single submitter ⚠
- p.Met965Val Single submitter ⚠
- p.Phe154Leu Single submitter ⚠
- p.Phe574Val Single submitter ⚠
- p.Pro256Thr Single submitter ⚠
- p.Pro295Thr Single submitter ⚠
- p.Pro320Leu Single submitter ⚠
- p.Pro440Leu Single submitter ⚠
- p.Pro466Leu Single submitter ⚠
- p.Pro466Ser Single submitter ⚠
- p.Pro607Thr Single submitter ⚠
- p.Pro789Ala Single submitter ⚠
- p.Pro912Leu Single submitter ⚠
- p.Pro913His Single submitter ⚠
- p.Pro913Ser Single submitter ⚠
- p.Ser129Trp Single submitter ⚠
- p.Ser172Asn Single submitter ⚠
- p.Ser215Leu Single submitter ⚠
- p.Ser248Arg Single submitter ⚠
- p.Ser248Gly Single submitter ⚠
- p.Ser330Leu Single submitter ⚠
- p.Ser38Leu Single submitter ⚠
- p.Ser391Arg Single submitter ⚠
- p.Ser77Asn Single submitter ⚠
- p.Thr117Pro Single submitter ⚠
- p.Thr435Arg Single submitter ⚠
- p.Thr627Ala Single submitter ⚠
- p.Thr674Lys Single submitter ⚠
- p.Thr796Ala Single submitter ⚠
- p.Thr796Met Single submitter ⚠
- p.Thr805Met Single submitter ⚠
- p.Trp54Gly Single submitter ⚠
- p.Tyr201Cys Single submitter ⚠
- p.Tyr610Cys Single submitter ⚠
- p.Tyr750Cys Single submitter ⚠
- p.Val255Leu Single submitter ⚠
- p.Val365Met Single submitter ⚠
- p.Val415Ile Single submitter ⚠
- p.Val418Met Single submitter ⚠
- p.Val444Met Single submitter ⚠
- p.Val456Ile Single submitter ⚠
- p.Val499Ile Single submitter ⚠
- p.Val766Ile Single submitter ⚠
- p.Val935Met Single submitter ⚠
- p.Val970Met Single submitter ⚠
- p.Arg856His No assertion criteria High myopia ⚠