EPHA5 — 124 ClinVar variants
All ClinVar germline EPHA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 119 flagged for review →
5 Benign · 2 Likely benign · 117 Uncertain significance
Full EPHA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 119
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPHA5 c.1794-9635T>G Uncertain significance Single submitter
- EPHA5 p.Ala123Val Uncertain significance Single submitter
- EPHA5 p.Ala332Gly Uncertain significance Single submitter
- EPHA5 p.Ala34Thr Uncertain significance Single submitter
- EPHA5 p.Ala38Pro Uncertain significance Single submitter
- EPHA5 p.Ala605Thr Uncertain significance Single submitter
- EPHA5 p.Ala641Val Uncertain significance Single submitter
- EPHA5 p.Ala927Ser Uncertain significance Single submitter
- EPHA5 p.Ala936Gly Uncertain significance Single submitter
- EPHA5 p.Arg191His Uncertain significance Single submitter
- EPHA5 p.Arg238Gln Uncertain significance Single submitter
- EPHA5 p.Arg2Leu Uncertain significance Single submitter
- EPHA5 p.Arg7Gly Uncertain significance Single submitter
- EPHA5 p.Asn369Lys Uncertain significance Single submitter
- EPHA5 p.Asn399Ser Uncertain significance Single submitter
- EPHA5 p.Asn737Ser Uncertain significance Single submitter
- EPHA5 p.Asn737Thr Uncertain significance Single submitter
- EPHA5 p.Asp187His Uncertain significance Single submitter
-
EPHA5 p.Asp348Gly
Uncertain significance
Single submitter
astrocytoma (excluding glioblastoma)
- EPHA5 p.Asp65Tyr Uncertain significance Single submitter
- EPHA5 p.Cys31Gly Uncertain significance Single submitter
- EPHA5 p.Cys398Tyr Uncertain significance Single submitter
- EPHA5 p.Glu501Asp Uncertain significance Single submitter
- EPHA5 p.Glu501Lys Uncertain significance Single submitter
- EPHA5 p.Glu508Gly Uncertain significance Single submitter
- EPHA5 p.Glu648Asp Uncertain significance Single submitter
- EPHA5 p.Glu733Gly Uncertain significance Single submitter
- EPHA5 p.Gly385Arg Uncertain significance Single submitter
- EPHA5 p.Gly3Ser Uncertain significance Single submitter
- EPHA5 p.Gly410Ser Uncertain significance Single submitter
- EPHA5 p.Gly601Ser Uncertain significance Single submitter
- EPHA5 p.Gly738Cys Uncertain significance Single submitter
- EPHA5 p.His617Gln Uncertain significance Single submitter
- EPHA5 p.His938Asp Uncertain significance Single submitter
- EPHA5 p.Ile485Val Uncertain significance Single submitter
- EPHA5 p.Ile821Val Uncertain significance Single submitter
- EPHA5 p.Ile867Thr Uncertain significance Single submitter
- EPHA5 p.Lys689Asn Uncertain significance Single submitter
- EPHA5 p.Met1013Leu Uncertain significance Single submitter
- EPHA5 p.Met290Thr Uncertain significance Single submitter
- EPHA5 p.Met707Val Uncertain significance Single submitter
- EPHA5 p.Met910Thr Uncertain significance Single submitter
- EPHA5 p.Pro22Arg Uncertain significance Single submitter
- EPHA5 p.Pro323Ser Uncertain significance Single submitter
- EPHA5 p.Pro379Leu Uncertain significance Single submitter
- EPHA5 p.Pro380Ser Uncertain significance Single submitter
- EPHA5 p.Pro6Ser Uncertain significance Single submitter
- EPHA5 p.Pro826Leu Uncertain significance Single submitter
- EPHA5 p.Pro940Ala Uncertain significance Single submitter
- EPHA5 p.Ser4Pro Uncertain significance Single submitter
- EPHA5 p.Ser568Gly Uncertain significance Single submitter
- EPHA5 p.Ser58Ile Uncertain significance Single submitter
- EPHA5 p.Ser919Asn Uncertain significance Single submitter
- EPHA5 p.Ser971Asn Uncertain significance Single submitter
- EPHA5 p.Thr301Ile Uncertain significance Single submitter
- EPHA5 p.Thr524Ile Uncertain significance Single submitter
- EPHA5 p.Thr655Ser Uncertain significance Single submitter
- EPHA5 p.Thr862Ser Uncertain significance Single submitter
- EPHA5 p.Tyr887His Uncertain significance Single submitter
- EPHA5 p.Val412Ala Uncertain significance Single submitter
- EPHA5 p.Val668Ala Uncertain significance Single submitter
- EPHA5 p.Val776Leu Uncertain significance Single submitter
- EPHA5 p.Val992Ile Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
- EPHA5 p.Glu528Gln Benign Multiple submitters
- EPHA5 p.Ser652Thr Likely benign Multiple submitters
- EPHA5 c.1794-9583G>A Uncertain significance Single submitter
- EPHA5 p.Ala433Ser Uncertain significance Single submitter
- EPHA5 p.Ala55Val Uncertain significance Single submitter
- EPHA5 p.Arg227His Uncertain significance Single submitter
- EPHA5 p.Arg356Lys Uncertain significance Single submitter
- EPHA5 p.Arg417Trp Uncertain significance Single submitter
- EPHA5 p.Arg455Gln Uncertain significance Single submitter
- EPHA5 p.Arg672Cys Uncertain significance Single submitter
- EPHA5 p.Arg679Thr Uncertain significance Single submitter
- EPHA5 p.Arg67His Uncertain significance Single submitter
- EPHA5 p.Arg916His Uncertain significance Single submitter
- EPHA5 p.Arg960Trp Uncertain significance Single submitter
- EPHA5 p.Asn747Ser Uncertain significance Single submitter
- EPHA5 p.Asp699Asn Uncertain significance Single submitter
- EPHA5 p.Asp806Gly Uncertain significance Single submitter
- EPHA5 p.Gln640Arg Uncertain significance Single submitter
- EPHA5 p.Glu257Asp Uncertain significance Single submitter
- EPHA5 p.Glu331Gly Uncertain significance Single submitter
- EPHA5 p.Glu442Val Uncertain significance Single submitter
- EPHA5 p.Glu954Gln Uncertain significance Single submitter
- EPHA5 p.Gly1012Arg Uncertain significance Single submitter
- EPHA5 p.Gly30Cys Uncertain significance Single submitter
- EPHA5 p.Gly320Cys Uncertain significance Single submitter
- EPHA5 p.Gly3Val Uncertain significance Single submitter
- EPHA5 p.Gly409Arg Uncertain significance Single submitter
- EPHA5 p.Gly420Ser Uncertain significance Single submitter
- EPHA5 p.His265Tyr Uncertain significance Single submitter
- EPHA5 p.His325Arg Uncertain significance Single submitter
- EPHA5 p.Ile128Thr Uncertain significance Single submitter
- EPHA5 p.Ile172Asn Uncertain significance Single submitter
- EPHA5 p.Ile654Met Uncertain significance Single submitter
- EPHA5 p.Ile76Phe Uncertain significance Single submitter
- EPHA5 p.Leu50Phe Uncertain significance Single submitter
- EPHA5 p.Lys321Gln Uncertain significance Single submitter
- EPHA5 p.Lys397Thr Uncertain significance Single submitter
- EPHA5 p.Met428Thr Uncertain significance Single submitter
- EPHA5 p.Met973Thr Uncertain significance Single submitter
- EPHA5 p.Phe156Leu Uncertain significance Single submitter
- EPHA5 p.Phe78Leu Uncertain significance Single submitter
- EPHA5 p.Pro14His Uncertain significance Single submitter
- EPHA5 p.Pro471Leu Uncertain significance Single submitter
- EPHA5 p.Pro713Leu Uncertain significance Single submitter
- EPHA5 p.Ser206Gly Uncertain significance Single submitter
- EPHA5 p.Ser939Asn Uncertain significance Single submitter
- EPHA5 p.Thr351Arg Uncertain significance Single submitter
- EPHA5 p.Thr516Met Uncertain significance Single submitter
- EPHA5 p.Thr523Ala Uncertain significance Single submitter
- EPHA5 p.Thr523Lys Uncertain significance Single submitter
- EPHA5 p.Val101Ile Uncertain significance Single submitter
- EPHA5 p.Val236Ala Uncertain significance Single submitter
- EPHA5 p.Val373Ile Uncertain significance Single submitter
- EPHA5 p.Val426Ile Uncertain significance Single submitter
- EPHA5 p.Val475Met Uncertain significance Single submitter
- EPHA5 p.Val846Ile Uncertain significance Single submitter
All EPHA5 variants
Benign 5
- c.2173+8T>A Multiple submitters
- p.Ala646= Multiple submitters
- p.Glu528Gln Multiple submitters ⚠
- c.2235+4G>A Single submitter
- p.Ala179= Single submitter
Likely benign 2
- p.Ser652Thr Multiple submitters ⚠
- p.Gly320Ser Single submitter
Uncertain significance 117
- c.1794-9583G>A Single submitter ⚠
- c.1794-9635T>G Single submitter ⚠
- p.Ala123Val Single submitter ⚠
- p.Ala332Gly Single submitter ⚠
- p.Ala34Thr Single submitter ⚠
- p.Ala38Pro Single submitter ⚠
- p.Ala433Ser Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Ala605Thr Single submitter ⚠
- p.Ala641Val Single submitter ⚠
- p.Ala927Ser Single submitter ⚠
- p.Ala936Gly Single submitter ⚠
- p.Arg191His Single submitter ⚠
- p.Arg227His Single submitter ⚠
- p.Arg238Gln Single submitter ⚠
- p.Arg2Leu Single submitter ⚠
- p.Arg356Lys Single submitter ⚠
- p.Arg417Trp Single submitter ⚠
- p.Arg455Gln Single submitter ⚠
- p.Arg672Cys Single submitter ⚠
- p.Arg679Thr Single submitter ⚠
- p.Arg67His Single submitter ⚠
- p.Arg7Gly Single submitter ⚠
- p.Arg916His Single submitter ⚠
- p.Arg960Trp Single submitter ⚠
- p.Asn369Lys Single submitter ⚠
- p.Asn399Ser Single submitter ⚠
- p.Asn737Ser Single submitter ⚠
- p.Asn737Thr Single submitter ⚠
- p.Asn747Ser Single submitter ⚠
- p.Asp187His Single submitter ⚠
- p.Asp348Gly Single submitter astrocytoma (excluding glioblastoma) ⚠
- p.Asp65Tyr Single submitter ⚠
- p.Asp699Asn Single submitter ⚠
- p.Asp806Gly Single submitter ⚠
- p.Cys31Gly Single submitter ⚠
- p.Cys398Tyr Single submitter ⚠
- p.Gln640Arg Single submitter ⚠
- p.Glu257Asp Single submitter ⚠
- p.Glu331Gly Single submitter ⚠
- p.Glu442Val Single submitter ⚠
- p.Glu501Asp Single submitter ⚠
- p.Glu501Lys Single submitter ⚠
- p.Glu508Gly Single submitter ⚠
- p.Glu648Asp Single submitter ⚠
- p.Glu733Gly Single submitter ⚠
- p.Glu954Gln Single submitter ⚠
- p.Gly1012Arg Single submitter ⚠
- p.Gly30Cys Single submitter ⚠
- p.Gly320Cys Single submitter ⚠
- p.Gly385Arg Single submitter ⚠
- p.Gly3Ser Single submitter ⚠
- p.Gly3Val Single submitter ⚠
- p.Gly409Arg Single submitter ⚠
- p.Gly410Ser Single submitter ⚠
- p.Gly420Ser Single submitter ⚠
- p.Gly601Ser Single submitter ⚠
- p.Gly738Cys Single submitter ⚠
- p.His265Tyr Single submitter ⚠
- p.His325Arg Single submitter ⚠
- p.His617Gln Single submitter ⚠
- p.His938Asp Single submitter ⚠
- p.Ile128Thr Single submitter ⚠
- p.Ile172Asn Single submitter ⚠
- p.Ile485Val Single submitter ⚠
- p.Ile654Met Single submitter ⚠
- p.Ile76Phe Single submitter ⚠
- p.Ile821Val Single submitter ⚠
- p.Ile867Thr Single submitter ⚠
- p.Leu50Phe Single submitter ⚠
- p.Lys321Gln Single submitter ⚠
- p.Lys397Thr Single submitter ⚠
- p.Lys689Asn Single submitter ⚠
- p.Met1013Leu Single submitter ⚠
- p.Met290Thr Single submitter ⚠
- p.Met428Thr Single submitter ⚠
- p.Met707Val Single submitter ⚠
- p.Met910Thr Single submitter ⚠
- p.Met973Thr Single submitter ⚠
- p.Phe156Leu Single submitter ⚠
- p.Phe78Leu Single submitter ⚠
- p.Pro14His Single submitter ⚠
- p.Pro22Arg Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro379Leu Single submitter ⚠
- p.Pro380Ser Single submitter ⚠
- p.Pro471Leu Single submitter ⚠
- p.Pro6Ser Single submitter ⚠
- p.Pro713Leu Single submitter ⚠
- p.Pro826Leu Single submitter ⚠
- p.Pro940Ala Single submitter ⚠
- p.Ser206Gly Single submitter ⚠
- p.Ser4Pro Single submitter ⚠
- p.Ser568Gly Single submitter ⚠
- p.Ser58Ile Single submitter ⚠
- p.Ser919Asn Single submitter ⚠
- p.Ser939Asn Single submitter ⚠
- p.Ser971Asn Single submitter ⚠
- p.Thr301Ile Single submitter ⚠
- p.Thr351Arg Single submitter ⚠
- p.Thr516Met Single submitter ⚠
- p.Thr523Ala Single submitter ⚠
- p.Thr523Lys Single submitter ⚠
- p.Thr524Ile Single submitter ⚠
- p.Thr655Ser Single submitter ⚠
- p.Thr862Ser Single submitter ⚠
- p.Tyr887His Single submitter ⚠
- p.Val101Ile Single submitter ⚠
- p.Val236Ala Single submitter ⚠
- p.Val373Ile Single submitter ⚠
- p.Val412Ala Single submitter ⚠
- p.Val426Ile Single submitter ⚠
- p.Val475Met Single submitter ⚠
- p.Val668Ala Single submitter ⚠
- p.Val776Leu Single submitter ⚠
- p.Val846Ile Single submitter ⚠
- p.Val992Ile Single submitter ⚠