EPB41L2 — 156 ClinVar variants

All ClinVar germline EPB41L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

3 Benign · 5 Likely benign · 148 Uncertain significance

Full EPB41L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 148

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 79

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 69

The independent predictors disagree with each other — read with care.

All EPB41L2 variants

Benign 3

c.493-11_493-10del Single submitter
p.Asn850= Single submitter
p.Pro555Leu Single submitter ⚠

Likely benign 5

c.493-17_493-16insC Single submitter
p.Arg695Gln Single submitter
p.Ile689Val Single submitter
p.Leu59Pro Single submitter
p.Leu834Val Single submitter

Uncertain significance 148

p.Ala322Ser Single submitter ⚠
p.Ala322Val Single submitter ⚠
p.Ala481Thr Single submitter ⚠
p.Ala52Val Single submitter ⚠
p.Ala570Thr Single submitter ⚠
p.Ala576Thr Single submitter ⚠
p.Ala696Glu Single submitter ⚠
p.Ala784Val Single submitter ⚠
p.Ala833Ser Single submitter ⚠
p.Ala833Thr Single submitter ⚠
p.Ala842Gly Single submitter ⚠
p.Ala925Thr Single submitter ⚠
p.Ala975Val Single submitter ⚠
p.Arg318Trp Single submitter ⚠
p.Arg325Pro Single submitter ⚠
p.Arg383Ser Single submitter ⚠
p.Arg452His Single submitter ⚠
p.Arg526Cys Single submitter ⚠
p.Arg546Gln Single submitter ⚠
p.Arg593Gly Single submitter ⚠
p.Arg60His Single submitter ⚠
p.Arg616Thr Single submitter ⚠
p.Arg671Cys Single submitter ⚠
p.Arg695Trp Single submitter ⚠
p.Arg724Cys Single submitter ⚠
p.Arg72Gly Single submitter ⚠
p.Arg761Gln Single submitter ⚠
p.Arg761Pro Single submitter ⚠
p.Arg782Cys Single submitter ⚠
p.Arg782His Single submitter ⚠
p.Arg886Lys Single submitter ⚠
p.Arg953Ile Single submitter ⚠
p.Arg957His Single submitter ⚠
p.Asn252Ser Single submitter ⚠
p.Asn817Asp Single submitter ⚠
p.Asn817Ser Single submitter ⚠
p.Asp21Val Single submitter ⚠
p.Asp226Gly Single submitter ⚠
p.Asp274Glu Single submitter ⚠
p.Asp307Gly Single submitter ⚠
p.Asp357Val Single submitter ⚠
p.Asp418Asn Single submitter ⚠
p.Asp635Gly Single submitter ⚠
p.Asp640Gly Single submitter ⚠
p.Cys866Phe Single submitter ⚠
p.Cys867Ser Single submitter ⚠
p.Gln181Lys Single submitter ⚠
p.Gln219Arg Single submitter ⚠
p.Gln393Arg Single submitter ⚠
p.Gln393Lys Single submitter ⚠
p.Gln678His Single submitter ⚠
p.Gln815Arg Single submitter ⚠
p.Glu1004Lys Single submitter ⚠
p.Glu186Asp Single submitter ⚠
p.Glu186Gly Single submitter ⚠
p.Glu201Ala Single submitter ⚠
p.Glu229Lys Single submitter ⚠
p.Glu278Gly Single submitter ⚠
p.Glu415Ala Single submitter ⚠
p.Glu490Asp Single submitter ⚠
p.Glu691Lys Single submitter ⚠
p.Glu747Gln Single submitter ⚠
p.Glu764Lys Single submitter ⚠
p.Glu796Lys Single submitter ⚠
p.Glu826Gly Single submitter ⚠
p.Glu826Lys Single submitter ⚠
p.Glu831Lys Single submitter ⚠
p.Glu845Val Single submitter ⚠
p.Gly240Arg Single submitter ⚠
p.Gly324Val Single submitter ⚠
p.Gly337Glu Single submitter ⚠
p.Gly354Asp Single submitter ⚠
p.Gly46Cys Single submitter ⚠
p.Gly825Arg Single submitter ⚠
p.Gly914Arg Single submitter ⚠
p.Gly948Arg Single submitter ⚠
p.Gly948Glu Single submitter ⚠
p.Gly97Arg Single submitter ⚠
p.His237Leu Single submitter ⚠
p.His410Arg Single submitter ⚠
p.His410Tyr Single submitter ⚠
p.His538Gln Single submitter ⚠
p.His604Gln Single submitter ⚠
p.His684Arg Single submitter ⚠
p.His684Tyr Single submitter ⚠
p.His830Gln Single submitter ⚠
p.His830Tyr Single submitter ⚠
p.His940Gln Single submitter ⚠
p.His968Gln Single submitter ⚠
p.Ile139Met Single submitter ⚠
p.Ile622Val Single submitter ⚠
p.Ile648Val Single submitter ⚠
p.Ile858Thr Single submitter ⚠
p.Ile960Val Single submitter ⚠
p.Leu118Val Single submitter ⚠
p.Leu251Arg Single submitter ⚠
p.Leu262Val Single submitter ⚠
p.Leu475Arg Single submitter ⚠
p.Leu581Phe Single submitter ⚠
p.Leu923Val Single submitter ⚠
p.Lys13Glu Single submitter ⚠
p.Lys147Arg Single submitter ⚠
p.Lys171Asn Single submitter ⚠
p.Lys239Glu Single submitter ⚠
p.Lys246Arg Single submitter ⚠
p.Lys270Glu Single submitter ⚠
p.Lys420Arg Single submitter ⚠
p.Lys474fs Single submitter
p.Lys902Glu Single submitter ⚠
p.Met403Ile Single submitter ⚠
p.Met709Val Single submitter ⚠
p.Pro165Ser Single submitter ⚠
p.Pro365Leu Single submitter ⚠
p.Pro365Ser Single submitter ⚠
p.Pro504Ala Single submitter ⚠
p.Pro720Ser Single submitter ⚠
p.Pro781Ser Single submitter ⚠
p.Pro79Thr Single submitter ⚠
p.Pro909Leu Single submitter ⚠
p.Pro909Ser Single submitter ⚠
p.Ser149Leu Single submitter ⚠
p.Ser16Arg Single submitter ⚠
p.Ser302Phe Single submitter ⚠
p.Ser386Thr Single submitter ⚠
p.Ser392Ala Single submitter ⚠
p.Ser682Gly Single submitter ⚠
p.Ser743Cys Single submitter ⚠
p.Ser743Ile Single submitter ⚠
p.Ser744Gly Single submitter ⚠
p.Ser987Leu Single submitter ⚠
p.Thr223Ile Single submitter ⚠
p.Thr23Ile Single submitter ⚠
p.Thr340Ala Single submitter ⚠
p.Thr921Met Single submitter ⚠
p.Thr936Met Single submitter ⚠
p.Tyr348Cys Single submitter ⚠
p.Tyr756Cys Single submitter ⚠
p.Val106Ile Single submitter ⚠
p.Val141Leu Single submitter ⚠
p.Val161Met Single submitter ⚠
p.Val218Gly Single submitter ⚠
p.Val30Gly Single submitter ⚠
p.Val459Phe Single submitter ⚠
p.Val547Asp Single submitter ⚠
p.Val587Ile Single submitter ⚠
p.Val753Met Single submitter ⚠
p.Val777Met Single submitter ⚠
p.Val945Ile Single submitter ⚠