EPC2 — 79 ClinVar variants
All ClinVar germline EPC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
4 Benign · 75 Uncertain significance
Full EPC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPC2 p.Ala634Thr Uncertain significance Single submitter
- EPC2 p.Ala711Thr Uncertain significance Single submitter
- EPC2 p.Ala711Val Uncertain significance Single submitter
- EPC2 p.Arg182His Uncertain significance Single submitter
- EPC2 p.Arg412His Uncertain significance Single submitter
- EPC2 p.Arg464Gln Uncertain significance Single submitter
- EPC2 p.Arg464Leu Uncertain significance Single submitter
- EPC2 p.Arg499Gln Uncertain significance Single submitter
- EPC2 p.Arg88His Uncertain significance Single submitter
- EPC2 p.Asn107Ser Uncertain significance Single submitter
- EPC2 p.Asn361Ser Uncertain significance Single submitter
- EPC2 p.Asn392His Uncertain significance Single submitter
- EPC2 p.Asn534Lys Uncertain significance Single submitter
- EPC2 p.Asn554Lys Uncertain significance Single submitter
- EPC2 p.Asn682Ser Uncertain significance Single submitter
- EPC2 p.Asp167Gly Uncertain significance Single submitter
- EPC2 p.Asp625Asn Uncertain significance Single submitter
- EPC2 p.Asp768Glu Uncertain significance Single submitter
- EPC2 p.Cys713Arg Uncertain significance Single submitter
- EPC2 p.Gln415Lys Uncertain significance Single submitter
- EPC2 p.Gln658Arg Uncertain significance Single submitter
- EPC2 p.Glu653Asp Uncertain significance Single submitter
- EPC2 p.Gly280Asp Uncertain significance Single submitter
- EPC2 p.Gly661Ser Uncertain significance Single submitter
- EPC2 p.His53Arg Uncertain significance Single submitter
- EPC2 p.Ile143Met Uncertain significance Single submitter
- EPC2 p.Ile245Val Uncertain significance Single submitter
- EPC2 p.Ile491Lys Uncertain significance Single submitter
- EPC2 p.Ile779Val Uncertain significance Single submitter
- EPC2 p.Leu124Ser Uncertain significance Single submitter
- EPC2 p.Leu154Phe Uncertain significance Single submitter
- EPC2 p.Leu170Arg Uncertain significance Single submitter
- EPC2 p.Leu190Phe Uncertain significance Single submitter
- EPC2 p.Leu428Val Uncertain significance Single submitter
- EPC2 p.Lys314Glu Uncertain significance Single submitter
- EPC2 p.Lys676Arg Uncertain significance Single submitter
- EPC2 p.Met767Val Uncertain significance Single submitter
- EPC2 p.Phe378Leu Uncertain significance Single submitter
- EPC2 p.Pro18Arg Uncertain significance Single submitter
- EPC2 p.Pro341Ser Uncertain significance Single submitter
- EPC2 p.Pro478Leu Uncertain significance Single submitter
- EPC2 p.Pro548Leu Uncertain significance Single submitter
- EPC2 p.Ser363Asn Uncertain significance Single submitter
- EPC2 p.Ser466Ala Uncertain significance Single submitter
- EPC2 p.Ser488Pro Uncertain significance Single submitter
- EPC2 p.Ser494Pro Uncertain significance Single submitter
- EPC2 p.Ser5Phe Uncertain significance Single submitter
- EPC2 p.Ser622Gly Uncertain significance Single submitter
- EPC2 p.Ser687Pro Uncertain significance Single submitter
- EPC2 p.Ser754Leu Uncertain significance Single submitter
- EPC2 p.Thr674Pro Uncertain significance Single submitter
- EPC2 p.Thr756Ala Uncertain significance Single submitter
- EPC2 p.Thr800Lys Uncertain significance Single submitter
- EPC2 p.Tyr409Cys Uncertain significance Single submitter
- EPC2 p.Tyr679Cys Uncertain significance Single submitter
- EPC2 p.Val694Leu Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- EPC2 p.Ala13Thr Uncertain significance Single submitter
- EPC2 p.Ala14Asp Uncertain significance Single submitter
- EPC2 p.Arg499Trp Uncertain significance Single submitter
- EPC2 p.Asn110Asp Uncertain significance Single submitter
- EPC2 p.Asn35Ser Uncertain significance Single submitter
- EPC2 p.Asp200Glu Uncertain significance Single submitter
- EPC2 p.Gln613Arg Uncertain significance Single submitter
- EPC2 p.Ile143Val Uncertain significance Single submitter
- EPC2 p.Ile19Val Uncertain significance Single submitter
- EPC2 p.Ile461Val Uncertain significance Single submitter
- EPC2 p.Lys759Thr Uncertain significance Single submitter
- EPC2 p.Ser349Cys Uncertain significance Single submitter
- EPC2 p.Ser372Gly Uncertain significance Single submitter
- EPC2 p.Ser503Cys Uncertain significance Single submitter
- EPC2 p.Ser558Phe Uncertain significance Single submitter
- EPC2 p.Ser645Asn Uncertain significance Single submitter
- EPC2 p.Tyr175Phe Uncertain significance Single submitter
- EPC2 p.Val155Leu Uncertain significance Single submitter
- EPC2 p.Val179Met Uncertain significance Single submitter
All EPC2 variants
Benign 4
- c.666+9C>T Multiple submitters
- p.Arg253= Multiple submitters
- p.Phe6= Multiple submitters
- p.Ser611= Multiple submitters
Uncertain significance 75
- p.Ala13Thr Single submitter ⚠
- p.Ala14Asp Single submitter ⚠
- p.Ala634Thr Single submitter ⚠
- p.Ala711Thr Single submitter ⚠
- p.Ala711Val Single submitter ⚠
- p.Arg182His Single submitter ⚠
- p.Arg412His Single submitter ⚠
- p.Arg464Gln Single submitter ⚠
- p.Arg464Leu Single submitter ⚠
- p.Arg499Gln Single submitter ⚠
- p.Arg499Trp Single submitter ⚠
- p.Arg88His Single submitter ⚠
- p.Asn107Ser Single submitter ⚠
- p.Asn110Asp Single submitter ⚠
- p.Asn35Ser Single submitter ⚠
- p.Asn361Ser Single submitter ⚠
- p.Asn392His Single submitter ⚠
- p.Asn534Lys Single submitter ⚠
- p.Asn554Lys Single submitter ⚠
- p.Asn682Ser Single submitter ⚠
- p.Asp167Gly Single submitter ⚠
- p.Asp200Glu Single submitter ⚠
- p.Asp625Asn Single submitter ⚠
- p.Asp768Glu Single submitter ⚠
- p.Cys713Arg Single submitter ⚠
- p.Gln415Lys Single submitter ⚠
- p.Gln613Arg Single submitter ⚠
- p.Gln658Arg Single submitter ⚠
- p.Glu653Asp Single submitter ⚠
- p.Gly280Asp Single submitter ⚠
- p.Gly661Ser Single submitter ⚠
- p.His53Arg Single submitter ⚠
- p.Ile143Met Single submitter ⚠
- p.Ile143Val Single submitter ⚠
- p.Ile19Val Single submitter ⚠
- p.Ile245Val Single submitter ⚠
- p.Ile461Val Single submitter ⚠
- p.Ile491Lys Single submitter ⚠
- p.Ile779Val Single submitter ⚠
- p.Leu124Ser Single submitter ⚠
- p.Leu154Phe Single submitter ⚠
- p.Leu170Arg Single submitter ⚠
- p.Leu190Phe Single submitter ⚠
- p.Leu428Val Single submitter ⚠
- p.Lys314Glu Single submitter ⚠
- p.Lys676Arg Single submitter ⚠
- p.Lys759Thr Single submitter ⚠
- p.Met767Val Single submitter ⚠
- p.Phe378Leu Single submitter ⚠
- p.Pro18Arg Single submitter ⚠
- p.Pro341Ser Single submitter ⚠
- p.Pro478Leu Single submitter ⚠
- p.Pro548Leu Single submitter ⚠
- p.Ser349Cys Single submitter ⚠
- p.Ser363Asn Single submitter ⚠
- p.Ser372Gly Single submitter ⚠
- p.Ser466Ala Single submitter ⚠
- p.Ser488Pro Single submitter ⚠
- p.Ser494Pro Single submitter ⚠
- p.Ser503Cys Single submitter ⚠
- p.Ser558Phe Single submitter ⚠
- p.Ser5Phe Single submitter ⚠
- p.Ser622Gly Single submitter ⚠
- p.Ser645Asn Single submitter ⚠
- p.Ser687Pro Single submitter ⚠
- p.Ser754Leu Single submitter ⚠
- p.Thr674Pro Single submitter ⚠
- p.Thr756Ala Single submitter ⚠
- p.Thr800Lys Single submitter ⚠
- p.Tyr175Phe Single submitter ⚠
- p.Tyr409Cys Single submitter ⚠
- p.Tyr679Cys Single submitter ⚠
- p.Val155Leu Single submitter ⚠
- p.Val179Met Single submitter ⚠
- p.Val694Leu Single submitter ⚠