EEPD1 — 94 ClinVar variants
All ClinVar germline EEPD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
2 Likely benign · 92 Uncertain significance
Full EEPD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EEPD1 p.Ala107Gly Uncertain significance Single submitter
- EEPD1 p.Ala120Gly Uncertain significance Single submitter
- EEPD1 p.Ala130Val Uncertain significance Single submitter
- EEPD1 p.Ala186Pro Uncertain significance Single submitter
- EEPD1 p.Ala186Thr Uncertain significance Single submitter
- EEPD1 p.Ala215Thr Uncertain significance Single submitter
- EEPD1 p.Ala358Val Uncertain significance Single submitter
- EEPD1 p.Ala427Val Uncertain significance Single submitter
- EEPD1 p.Ala528Gly Uncertain significance Single submitter
- EEPD1 p.Ala549Thr Uncertain significance Single submitter
- EEPD1 p.Ala563Thr Uncertain significance Single submitter
- EEPD1 p.Arg166His Uncertain significance Single submitter
- EEPD1 p.Arg282Gly Uncertain significance Single submitter
- EEPD1 p.Arg425Gln Uncertain significance Single submitter
- EEPD1 p.Arg551Gln Uncertain significance Single submitter
- EEPD1 p.Arg560Gln Uncertain significance Single submitter
- EEPD1 p.Arg569Gln Uncertain significance Single submitter
- EEPD1 p.Asn184Ser Uncertain significance Single submitter
- EEPD1 p.Asn32Ser Uncertain significance Single submitter
- EEPD1 p.Asp256Asn Uncertain significance Single submitter
- EEPD1 p.Asp357Asn Uncertain significance Single submitter
- EEPD1 p.Gln123His Uncertain significance Single submitter
- EEPD1 p.Gln370Pro Uncertain significance Single submitter
- EEPD1 p.Glu48Gly Uncertain significance Single submitter
- EEPD1 p.Gly379Arg Uncertain significance Single submitter
- EEPD1 p.Gly526Arg Uncertain significance Single submitter
- EEPD1 p.Gly72Asp Uncertain significance Single submitter
- EEPD1 p.His193Tyr Uncertain significance Single submitter
- EEPD1 p.His20Arg Uncertain significance Single submitter
- EEPD1 p.His20Asp Uncertain significance Single submitter
- EEPD1 p.Leu224Val Uncertain significance Single submitter
- EEPD1 p.Leu290Pro Uncertain significance Single submitter
- EEPD1 p.Lys103Thr Uncertain significance Single submitter
- EEPD1 p.Pro318Leu Uncertain significance Single submitter
- EEPD1 p.Pro384Arg Uncertain significance Single submitter
- EEPD1 p.Pro416His Uncertain significance Single submitter
- EEPD1 p.Ser105Gly Uncertain significance Single submitter
- EEPD1 p.Ser110Phe Uncertain significance Single submitter
- EEPD1 p.Ser113Thr Uncertain significance Single submitter
- EEPD1 p.Ser243Phe Uncertain significance Single submitter
- EEPD1 p.Ser31Asn Uncertain significance Single submitter
- EEPD1 p.Ser342Leu Uncertain significance Single submitter
- EEPD1 p.Ser495Asn Uncertain significance Single submitter
- EEPD1 p.Ser63Asn Uncertain significance Single submitter
- EEPD1 p.Thr214Ala Uncertain significance Single submitter
- EEPD1 p.Thr313Met Uncertain significance Single submitter
- EEPD1 p.Thr436Ile Uncertain significance Single submitter
- EEPD1 p.Tyr458Cys Uncertain significance Single submitter
- EEPD1 p.Val178Ala Uncertain significance Single submitter
- EEPD1 p.Val337Ala Uncertain significance Single submitter
- EEPD1 p.Val393Leu Uncertain significance Single submitter
- EEPD1 p.Val86Ile Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- EEPD1 p.Ala349Val Uncertain significance Single submitter
- EEPD1 p.Ala352Glu Uncertain significance Single submitter
- EEPD1 p.Ala367Thr Uncertain significance Single submitter
- EEPD1 p.Ala367Val Uncertain significance Single submitter
- EEPD1 p.Ala407Val Uncertain significance Single submitter
- EEPD1 p.Ala472Thr Uncertain significance Single submitter
- EEPD1 p.Ala472Val Uncertain significance Single submitter
- EEPD1 p.Ala507Thr Uncertain significance Single submitter
- EEPD1 p.Arg255Lys Uncertain significance Single submitter
- EEPD1 p.Arg282Gln Uncertain significance Single submitter
- EEPD1 p.Arg324Cys Uncertain significance Single submitter
- EEPD1 p.Arg330Trp Uncertain significance Single submitter
- EEPD1 p.Asn208Lys Uncertain significance Single submitter
- EEPD1 p.Asn277Lys Uncertain significance Single submitter
- EEPD1 p.Asn292His Uncertain significance Single submitter
- EEPD1 p.Asn521Lys Uncertain significance Single submitter
- EEPD1 p.Cys332Trp Uncertain significance Single submitter
- EEPD1 p.Glu167Gly Uncertain significance Single submitter
- EEPD1 p.Gly152Asp Uncertain significance Single submitter
- EEPD1 p.Gly361Ser Uncertain significance Single submitter
- EEPD1 p.Leu489Pro Uncertain significance Single submitter
- EEPD1 p.Met148Val Uncertain significance Single submitter
- EEPD1 p.Met362Thr Uncertain significance Single submitter
- EEPD1 p.Phe164Cys Uncertain significance Single submitter
- EEPD1 p.Pro170Leu Uncertain significance Single submitter
- EEPD1 p.Pro318Ala Uncertain significance Single submitter
- EEPD1 p.Pro483Leu Uncertain significance Single submitter
- EEPD1 p.Ser102Ile Uncertain significance Single submitter
- EEPD1 p.Ser204Cys Uncertain significance Single submitter
- EEPD1 p.Ser223Tyr Uncertain significance Single submitter
- EEPD1 p.Ser342Pro Uncertain significance Single submitter
- EEPD1 p.Ser421Asn Uncertain significance Single submitter
- EEPD1 p.Ser421Ile Uncertain significance Single submitter
- EEPD1 p.Ser561Ile Uncertain significance Single submitter
- EEPD1 p.Thr207Met Uncertain significance Single submitter
- EEPD1 p.Thr44Ala Uncertain significance Single submitter
- EEPD1 p.Thr57Met Uncertain significance Single submitter
- EEPD1 p.Tyr539Cys Uncertain significance Single submitter
- EEPD1 p.Val260Leu Uncertain significance Single submitter
- EEPD1 p.Val336Ile Uncertain significance Single submitter
All EEPD1 variants
Likely benign 2
- p.Leu159Val Single submitter
- p.Leu388= Single submitter
Uncertain significance 92
- p.Ala107Gly Single submitter ⚠
- p.Ala120Gly Single submitter ⚠
- p.Ala130Val Single submitter ⚠
- p.Ala186Pro Single submitter ⚠
- p.Ala186Thr Single submitter ⚠
- p.Ala215Thr Single submitter ⚠
- p.Ala349Val Single submitter ⚠
- p.Ala352Glu Single submitter ⚠
- p.Ala358Val Single submitter ⚠
- p.Ala367Thr Single submitter ⚠
- p.Ala367Val Single submitter ⚠
- p.Ala407Val Single submitter ⚠
- p.Ala427Val Single submitter ⚠
- p.Ala472Thr Single submitter ⚠
- p.Ala472Val Single submitter ⚠
- p.Ala507Thr Single submitter ⚠
- p.Ala528Gly Single submitter ⚠
- p.Ala549Thr Single submitter ⚠
- p.Ala563Thr Single submitter ⚠
- p.Arg166His Single submitter ⚠
- p.Arg255Lys Single submitter ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg282Gly Single submitter ⚠
- p.Arg324Cys Single submitter ⚠
- p.Arg330Trp Single submitter ⚠
- p.Arg425Gln Single submitter ⚠
- p.Arg551Gln Single submitter ⚠
- p.Arg560Gln Single submitter ⚠
- p.Arg569Gln Single submitter ⚠
- p.Asn184Ser Single submitter ⚠
- p.Asn208Lys Single submitter ⚠
- p.Asn277Lys Single submitter ⚠
- p.Asn292His Single submitter ⚠
- p.Asn32Ser Single submitter ⚠
- p.Asn521Lys Single submitter ⚠
- p.Asp256Asn Single submitter ⚠
- p.Asp357Asn Single submitter ⚠
- p.Cys332Trp Single submitter ⚠
- p.Gln123His Single submitter ⚠
- p.Gln370Pro Single submitter ⚠
- p.Glu167Gly Single submitter ⚠
- p.Glu48Gly Single submitter ⚠
- p.Gly152Asp Single submitter ⚠
- p.Gly361Ser Single submitter ⚠
- p.Gly379Arg Single submitter ⚠
- p.Gly526Arg Single submitter ⚠
- p.Gly72Asp Single submitter ⚠
- p.His193Tyr Single submitter ⚠
- p.His20Arg Single submitter ⚠
- p.His20Asp Single submitter ⚠
- p.Leu224Val Single submitter ⚠
- p.Leu290Pro Single submitter ⚠
- p.Leu489Pro Single submitter ⚠
- p.Lys103Thr Single submitter ⚠
- p.Met148Val Single submitter ⚠
- p.Met362Thr Single submitter ⚠
- p.Phe164Cys Single submitter ⚠
- p.Pro170Leu Single submitter ⚠
- p.Pro318Ala Single submitter ⚠
- p.Pro318Leu Single submitter ⚠
- p.Pro384Arg Single submitter ⚠
- p.Pro416His Single submitter ⚠
- p.Pro483Leu Single submitter ⚠
- p.Ser102Ile Single submitter ⚠
- p.Ser105Gly Single submitter ⚠
- p.Ser110Phe Single submitter ⚠
- p.Ser113Thr Single submitter ⚠
- p.Ser204Cys Single submitter ⚠
- p.Ser223Tyr Single submitter ⚠
- p.Ser243Phe Single submitter ⚠
- p.Ser31Asn Single submitter ⚠
- p.Ser342Leu Single submitter ⚠
- p.Ser342Pro Single submitter ⚠
- p.Ser421Asn Single submitter ⚠
- p.Ser421Ile Single submitter ⚠
- p.Ser495Asn Single submitter ⚠
- p.Ser561Ile Single submitter ⚠
- p.Ser63Asn Single submitter ⚠
- p.Thr207Met Single submitter ⚠
- p.Thr214Ala Single submitter ⚠
- p.Thr313Met Single submitter ⚠
- p.Thr436Ile Single submitter ⚠
- p.Thr44Ala Single submitter ⚠
- p.Thr57Met Single submitter ⚠
- p.Tyr458Cys Single submitter ⚠
- p.Tyr539Cys Single submitter ⚠
- p.Val178Ala Single submitter ⚠
- p.Val260Leu Single submitter ⚠
- p.Val336Ile Single submitter ⚠
- p.Val337Ala Single submitter ⚠
- p.Val393Leu Single submitter ⚠
- p.Val86Ile Single submitter ⚠