EPM2AIP1 — 67 ClinVar variants
All ClinVar germline EPM2AIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
1 Benign · 4 Likely benign · 62 Uncertain significance
Full EPM2AIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPM2AIP1 p.Ala109Val Uncertain significance Single submitter
- EPM2AIP1 p.Ala15Gly Uncertain significance Single submitter
- EPM2AIP1 p.Ala37Val Uncertain significance Single submitter
- EPM2AIP1 p.Ala406Val Uncertain significance Single submitter
- EPM2AIP1 p.Ala436Val Uncertain significance Single submitter
- EPM2AIP1 p.Ala548Thr Uncertain significance Single submitter
- EPM2AIP1 p.Ala70Val Uncertain significance Single submitter
- EPM2AIP1 p.Arg438Gly Uncertain significance Single submitter
- EPM2AIP1 p.Arg43His Uncertain significance Single submitter
- EPM2AIP1 p.Arg466His Uncertain significance Single submitter
- EPM2AIP1 p.Arg566Gln Uncertain significance Single submitter
- EPM2AIP1 p.Arg56His Uncertain significance Single submitter
- EPM2AIP1 p.Arg585Trp Uncertain significance Single submitter
- EPM2AIP1 p.Asn163His Uncertain significance Single submitter
- EPM2AIP1 p.Asn163Thr Uncertain significance Single submitter
- EPM2AIP1 p.Asn271Asp Uncertain significance Single submitter
- EPM2AIP1 p.Asp171Glu Uncertain significance Single submitter
- EPM2AIP1 p.Asp410Asn Uncertain significance Single submitter
- EPM2AIP1 p.Asp433Tyr Uncertain significance Single submitter
- EPM2AIP1 p.Asp85His Uncertain significance Single submitter
- EPM2AIP1 p.Glu393Lys Uncertain significance Single submitter
- EPM2AIP1 p.Glu472Gln Uncertain significance Single submitter
- EPM2AIP1 p.Glu95Lys Uncertain significance Single submitter
- EPM2AIP1 p.Gly103Arg Uncertain significance Single submitter
- EPM2AIP1 p.Gly114Ser Uncertain significance Single submitter
- EPM2AIP1 p.Ile539Val Uncertain significance Single submitter
- EPM2AIP1 p.Leu140Val Uncertain significance Single submitter
- EPM2AIP1 p.Leu145Val Uncertain significance Single submitter
- EPM2AIP1 p.Leu16Pro Uncertain significance Single submitter
- EPM2AIP1 p.Leu40Gln Uncertain significance Single submitter
- EPM2AIP1 p.Leu431Val Uncertain significance Single submitter
- EPM2AIP1 p.Leu564Phe Uncertain significance Single submitter
- EPM2AIP1 p.Lys9Arg Uncertain significance Single submitter
- EPM2AIP1 p.Met462Ile Uncertain significance Single submitter
- EPM2AIP1 p.Phe434Ser Uncertain significance Single submitter
- EPM2AIP1 p.Pro31Leu Uncertain significance Single submitter
- EPM2AIP1 p.Pro32Leu Uncertain significance Single submitter
- EPM2AIP1 p.Ser288Gly Uncertain significance Single submitter
- EPM2AIP1 p.Ser572Asn Uncertain significance Single submitter
- EPM2AIP1 p.Ser90Phe Uncertain significance Single submitter
- EPM2AIP1 p.Thr300Ile Uncertain significance Single submitter
- EPM2AIP1 p.Thr323Met Uncertain significance Single submitter
- EPM2AIP1 p.Thr368Ile Uncertain significance Single submitter
- EPM2AIP1 p.Thr92Ile Uncertain significance Single submitter
- EPM2AIP1 p.Tyr498His Uncertain significance Single submitter
- EPM2AIP1 p.Val121Leu Uncertain significance Single submitter
- EPM2AIP1 p.Val365Ala Uncertain significance Single submitter
- EPM2AIP1 p.Val440Ile Uncertain significance Single submitter
- EPM2AIP1 p.Val78Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- EPM2AIP1 p.Ala174Thr Uncertain significance Single submitter
- EPM2AIP1 p.Ala183Val Uncertain significance Single submitter
- EPM2AIP1 p.Cys272Tyr Uncertain significance Single submitter
- EPM2AIP1 p.Gly526Arg Uncertain significance Single submitter
- EPM2AIP1 p.Ile301Thr Uncertain significance Single submitter
- EPM2AIP1 p.Leu165Phe Uncertain significance Single submitter
- EPM2AIP1 p.Leu179Phe Uncertain significance Single submitter
- EPM2AIP1 p.Leu338Pro Uncertain significance Single submitter
- EPM2AIP1 p.Trp115Cys Uncertain significance Single submitter
- EPM2AIP1 p.Trp2Arg Uncertain significance Single submitter
- EPM2AIP1 p.Tyr520His Uncertain significance Single submitter
All EPM2AIP1 variants
Benign 1
- p.Leu129= Multiple submitters
Likely benign 4
- p.Leu437Phe Single submitter
- p.Pro200Ala Single submitter
- p.Pro87= Single submitter
- p.Ser156Asn Single submitter
Uncertain significance 62
- p.Ala109Val Single submitter ⚠
- p.Ala15Gly Single submitter ⚠
- p.Ala174Thr Single submitter ⚠
- p.Ala183Val Single submitter ⚠
- p.Ala37Val Single submitter ⚠
- p.Ala406Val Single submitter ⚠
- p.Ala436Val Single submitter ⚠
- p.Ala548Thr Single submitter ⚠
- p.Ala70Val Single submitter ⚠
- p.Arg315Leu Single submitter
- p.Arg438Gly Single submitter ⚠
- p.Arg43His Single submitter ⚠
- p.Arg466His Single submitter ⚠
- p.Arg566Gln Single submitter ⚠
- p.Arg56His Single submitter ⚠
- p.Arg585Trp Single submitter ⚠
- p.Asn163His Single submitter ⚠
- p.Asn163Thr Single submitter ⚠
- p.Asn271Asp Single submitter ⚠
- p.Asp171Glu Single submitter ⚠
- p.Asp410Asn Single submitter ⚠
- p.Asp433Tyr Single submitter ⚠
- p.Asp85His Single submitter ⚠
- p.Cys272Tyr Single submitter ⚠
- p.Glu393Lys Single submitter ⚠
- p.Glu472Gln Single submitter ⚠
- p.Glu95Lys Single submitter ⚠
- p.Gly103Arg Single submitter ⚠
- p.Gly114Ser Single submitter ⚠
- p.Gly526Arg Single submitter ⚠
- p.Ile301Thr Single submitter ⚠
- p.Ile539Val Single submitter ⚠
- p.Leu140Val Single submitter ⚠
- p.Leu145Val Single submitter ⚠
- p.Leu165Phe Single submitter ⚠
- p.Leu16Pro Single submitter ⚠
- p.Leu179Phe Single submitter ⚠
- p.Leu338Pro Single submitter ⚠
- p.Leu40Gln Single submitter ⚠
- p.Leu431Val Single submitter ⚠
- p.Leu564Phe Single submitter ⚠
- p.Lys9Arg Single submitter ⚠
- p.Met462Ile Single submitter ⚠
- p.Phe434Ser Single submitter ⚠
- p.Pro31Leu Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Ser288Gly Single submitter ⚠
- p.Ser572Asn Single submitter ⚠
- p.Ser90Phe Single submitter ⚠
- p.Thr300Ile Single submitter ⚠
- p.Thr323Met Single submitter ⚠
- p.Thr368Ile Single submitter ⚠
- p.Thr92Ile Single submitter ⚠
- p.Trp115Cys Single submitter ⚠
- p.Trp2Arg Single submitter ⚠
- p.Tyr498His Single submitter ⚠
- p.Tyr520His Single submitter ⚠
- p.Val121Ala Single submitter
- p.Val121Leu Single submitter ⚠
- p.Val365Ala Single submitter ⚠
- p.Val440Ile Single submitter ⚠
- p.Val78Leu Single submitter ⚠