EPHA7 — 102 ClinVar variants
All ClinVar germline EPHA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
5 Benign · 4 Likely benign · 93 Uncertain significance
Full EPHA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPHA7 p.Ala721Ser Uncertain significance Single submitter
- EPHA7 p.Ala761Val Uncertain significance Single submitter
- EPHA7 p.Ala986Val Uncertain significance Single submitter
- EPHA7 p.Arg20Cys Uncertain significance Single submitter
- EPHA7 p.Arg318Thr Uncertain significance Single submitter
- EPHA7 p.Arg516Gln Uncertain significance Single submitter
- EPHA7 p.Arg757Lys Uncertain significance Single submitter
- EPHA7 p.Arg854His Uncertain significance Single submitter
- EPHA7 p.Asn361Lys Uncertain significance Single submitter
- EPHA7 p.Asn419Ser Uncertain significance Single submitter
- EPHA7 p.Asn94Asp Uncertain significance Single submitter
- EPHA7 p.Asn94Ser Uncertain significance Single submitter
- EPHA7 p.Gln734His Uncertain significance Single submitter
- EPHA7 p.Gln809Pro Uncertain significance Single submitter
- EPHA7 p.Gln874Pro Uncertain significance Single submitter
- EPHA7 p.Glu475Val Uncertain significance Single submitter
- EPHA7 p.Glu961Asp Uncertain significance Single submitter
- EPHA7 p.Gly161Arg Uncertain significance Single submitter
- EPHA7 p.Gly175Val Uncertain significance Single submitter
- EPHA7 p.Gly25Ala Uncertain significance Single submitter
- EPHA7 p.Gly306Ala Uncertain significance Single submitter
- EPHA7 p.Gly640Cys Uncertain significance Single submitter
- EPHA7 p.Gly645Val Uncertain significance Single submitter
- EPHA7 p.Ile12Thr Uncertain significance Single submitter
- EPHA7 p.Ile264Val Uncertain significance Single submitter
- EPHA7 p.Ile339Val Uncertain significance Single submitter
- EPHA7 p.Ile567Val Uncertain significance Single submitter
- EPHA7 p.Ile635Thr Uncertain significance Single submitter
- EPHA7 p.Ile664Met Uncertain significance Single submitter
- EPHA7 p.Ile935Asn Uncertain significance Single submitter
- EPHA7 p.Leu368Ser Uncertain significance Single submitter
- EPHA7 p.Leu904Val Uncertain significance Single submitter
- EPHA7 p.Met984Thr Uncertain significance Single submitter
- EPHA7 p.Phe182Ser Uncertain significance Single submitter
- EPHA7 p.Pro805His Uncertain significance Single submitter
- EPHA7 p.Ser50Phe Uncertain significance Single submitter
- EPHA7 p.Ser908Asn Uncertain significance Single submitter
- EPHA7 p.Ser908Thr Uncertain significance Single submitter
- EPHA7 p.Thr24Lys Uncertain significance Single submitter
- EPHA7 p.Thr275Ala Uncertain significance Single submitter
- EPHA7 p.Thr298Ala Uncertain significance Single submitter
- EPHA7 p.Thr923Ser Uncertain significance Single submitter
- EPHA7 p.Tyr126Cys Uncertain significance Single submitter
- EPHA7 p.Tyr523His Uncertain significance Single submitter
- EPHA7 p.Tyr526Cys Uncertain significance Single submitter
- EPHA7 p.Tyr65His Uncertain significance Single submitter
- EPHA7 p.Tyr7Cys Uncertain significance Single submitter
- EPHA7 p.Val402Ile Uncertain significance Single submitter
- EPHA7 p.Val418Ile Uncertain significance Single submitter
- EPHA7 p.Val669Ala Uncertain significance Single submitter
Predictors split 45
The independent predictors disagree with each other — read with care.
- EPHA7 p.Ala191Ser Uncertain significance Single submitter
- EPHA7 p.Ala27Glu Uncertain significance Single submitter
- EPHA7 p.Ala520Asp Uncertain significance Single submitter
- EPHA7 p.Ala721Val Uncertain significance Single submitter
- EPHA7 p.Arg231Gln Uncertain significance Single submitter
- EPHA7 p.Arg281His Uncertain significance Single submitter
- EPHA7 p.Arg371Gln Benign Single submitter
- EPHA7 p.Arg457Gln Uncertain significance Single submitter
- EPHA7 p.Arg651Ser Uncertain significance Single submitter
- EPHA7 p.Arg86Gln Uncertain significance Single submitter
- EPHA7 p.Asn385Asp Uncertain significance Single submitter
- EPHA7 p.Gln445Lys Uncertain significance Single submitter
- EPHA7 p.Gln997Arg Uncertain significance Single submitter
- EPHA7 p.Glu350Ala Uncertain significance Single submitter
- EPHA7 p.Glu475Gln Uncertain significance Single submitter
- EPHA7 p.Gly25Arg Uncertain significance Single submitter
- EPHA7 p.Gly383Arg Uncertain significance Single submitter
- EPHA7 p.Gly993Arg Uncertain significance Single submitter
- EPHA7 p.Ile208Phe Uncertain significance Single submitter
- EPHA7 p.Ile783Val Uncertain significance Single submitter
- EPHA7 p.Ile960Thr Uncertain significance Single submitter
- EPHA7 p.Ile981Met Uncertain significance Single submitter
- EPHA7 p.Leu19His Uncertain significance Single submitter
- EPHA7 p.Leu395Val Uncertain significance Single submitter
- EPHA7 p.Lys179Gln Uncertain significance Single submitter
- EPHA7 p.Lys285Arg Uncertain significance Single submitter
- EPHA7 p.Met738Leu Uncertain significance Single submitter
- EPHA7 p.Met826Thr Uncertain significance Single submitter
- EPHA7 p.Met826Val Uncertain significance Single submitter
- EPHA7 p.Met978Thr Uncertain significance Single submitter
- EPHA7 p.Pro278Ser Benign Single submitter
- EPHA7 p.Pro655Ala Uncertain significance Single submitter
- EPHA7 p.Pro655Arg Uncertain significance Single submitter
- EPHA7 p.Pro910Leu Uncertain significance Single submitter
- EPHA7 p.Ser294Phe Uncertain significance Single submitter
- EPHA7 p.Ser373Ile Uncertain significance Single submitter
- EPHA7 p.Ser462Ala Uncertain significance Single submitter
- EPHA7 p.Ser501Phe Uncertain significance Single submitter
- EPHA7 p.Ser550Ile Uncertain significance Single submitter
- EPHA7 p.Thr364Ser Uncertain significance Single submitter
- EPHA7 p.Thr672Ala Uncertain significance Single submitter
- EPHA7 p.Val198Ile Uncertain significance Single submitter
- EPHA7 p.Val363Met Uncertain significance Single submitter
- EPHA7 p.Val782Ile Uncertain significance Single submitter
- EPHA7 p.Val928Ala Uncertain significance Single submitter
All EPHA7 variants
Benign 5
- c.832+27C>T Single submitter
- p.Arg371Gln Single submitter ⚠
- p.Pro278Ser Single submitter ⚠
- p.Pro692= Single submitter
- p.Ser427= Single submitter
Likely benign 4
- c.2533-1G>T Single submitter intellectual disability
- p.Gly448= Single submitter
- p.Ser908Gly Single submitter
- p.Gln514= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 93
- p.Ala191Ser Single submitter ⚠
- p.Ala27Glu Single submitter ⚠
- p.Ala520Asp Single submitter ⚠
- p.Ala721Ser Single submitter ⚠
- p.Ala721Val Single submitter ⚠
- p.Ala761Val Single submitter ⚠
- p.Ala986Val Single submitter ⚠
- p.Arg20Cys Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg281His Single submitter ⚠
- p.Arg318Thr Single submitter ⚠
- p.Arg457Gln Single submitter ⚠
- p.Arg516Gln Single submitter ⚠
- p.Arg651Ser Single submitter ⚠
- p.Arg757Lys Single submitter ⚠
- p.Arg854His Single submitter ⚠
- p.Arg86Gln Single submitter ⚠
- p.Asn361Lys Single submitter ⚠
- p.Asn385Asp Single submitter ⚠
- p.Asn419Ser Single submitter ⚠
- p.Asn94Asp Single submitter ⚠
- p.Asn94Ser Single submitter ⚠
- p.Gln445Lys Single submitter ⚠
- p.Gln734His Single submitter ⚠
- p.Gln809Pro Single submitter ⚠
- p.Gln874Pro Single submitter ⚠
- p.Gln997Arg Single submitter ⚠
- p.Glu350Ala Single submitter ⚠
- p.Glu475Gln Single submitter ⚠
- p.Glu475Val Single submitter ⚠
- p.Glu961Asp Single submitter ⚠
- p.Gly161Arg Single submitter ⚠
- p.Gly175Val Single submitter ⚠
- p.Gly25Ala Single submitter ⚠
- p.Gly25Arg Single submitter ⚠
- p.Gly306Ala Single submitter ⚠
- p.Gly383Arg Single submitter ⚠
- p.Gly640Cys Single submitter ⚠
- p.Gly645Val Single submitter ⚠
- p.Gly993Arg Single submitter ⚠
- p.Ile12Thr Single submitter ⚠
- p.Ile208Phe Single submitter ⚠
- p.Ile264Val Single submitter ⚠
- p.Ile339Val Single submitter ⚠
- p.Ile567Val Single submitter ⚠
- p.Ile635Thr Single submitter ⚠
- p.Ile664Met Single submitter ⚠
- p.Ile783Val Single submitter ⚠
- p.Ile935Asn Single submitter ⚠
- p.Ile960Thr Single submitter ⚠
- p.Ile981Met Single submitter ⚠
- p.Leu19His Single submitter ⚠
- p.Leu368Ser Single submitter ⚠
- p.Leu395Val Single submitter ⚠
- p.Leu904Val Single submitter ⚠
- p.Lys179Gln Single submitter ⚠
- p.Lys285Arg Single submitter ⚠
- p.Met738Leu Single submitter ⚠
- p.Met826Thr Single submitter ⚠
- p.Met826Val Single submitter ⚠
- p.Met978Thr Single submitter ⚠
- p.Met984Thr Single submitter ⚠
- p.Phe182Ser Single submitter ⚠
- p.Pro655Ala Single submitter ⚠
- p.Pro655Arg Single submitter ⚠
- p.Pro805His Single submitter ⚠
- p.Pro910Leu Single submitter ⚠
- p.Ser294Phe Single submitter ⚠
- p.Ser373Ile Single submitter ⚠
- p.Ser462Ala Single submitter ⚠
- p.Ser501Phe Single submitter ⚠
- p.Ser50Phe Single submitter ⚠
- p.Ser550Ile Single submitter ⚠
- p.Ser908Asn Single submitter ⚠
- p.Ser908Thr Single submitter ⚠
- p.Thr24Lys Single submitter ⚠
- p.Thr275Ala Single submitter ⚠
- p.Thr298Ala Single submitter ⚠
- p.Thr364Ser Single submitter ⚠
- p.Thr672Ala Single submitter ⚠
- p.Thr923Ser Single submitter ⚠
- p.Tyr126Cys Single submitter ⚠
- p.Tyr523His Single submitter ⚠
- p.Tyr526Cys Single submitter ⚠
- p.Tyr65His Single submitter ⚠
- p.Tyr7Cys Single submitter ⚠
- p.Val198Ile Single submitter ⚠
- p.Val363Met Single submitter ⚠
- p.Val402Ile Single submitter ⚠
- p.Val418Ile Single submitter ⚠
- p.Val669Ala Single submitter ⚠
- p.Val782Ile Single submitter ⚠
- p.Val928Ala Single submitter ⚠