EPB41L4A — 132 ClinVar variants

All ClinVar germline EPB41L4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

1 Likely pathogenic · 6 Benign · 1 Benign/Likely benign · 13 Likely benign · 111 Uncertain significance

Full EPB41L4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

EPB41L4A p.Ser433Leu Likely pathogenic No assertion criteria
Failure to thrive

Predictors lean, ClinVar uncertain 72

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

Predictors split 40

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

All EPB41L4A variants

Likely pathogenic 1

p.Ser433Leu No assertion criteria Failure to thrive ⚠

Benign 6

p.Ala666Val Single submitter
p.Arg441His Single submitter
p.Arg630= Single submitter
p.Gly465= Single submitter
p.Ile177Val Single submitter
p.Lys525= Single submitter

Benign/Likely benign 1

p.Thr293= Multiple submitters

Likely benign 13

c.1933-9A>G Multiple submitters
p.Lys435Glu Multiple submitters
c.1179-11T>A Single submitter
p.Ala100Val Single submitter
p.Arg320Cys Single submitter ⚠
p.Arg475= Single submitter
p.Asn526Ile Single submitter
p.Ile674Val Single submitter
p.Ile677Val Single submitter
p.Met654Ile Single submitter
p.Pro103= Single submitter
p.Ser593= Single submitter
p.Val40Ile Single submitter ⚠

Uncertain significance 111

p.Ser652Arg Multiple submitters ⚠
p.Thr620Ala Multiple submitters ⚠
p.Tyr90Cys Multiple submitters ⚠
c.1850+2dup Single submitter
p.Ala157Glu Single submitter ⚠
p.Arg127Cys Single submitter ⚠
p.Arg127Gly Single submitter ⚠
p.Arg164Trp Single submitter ⚠
p.Arg246Gln Single submitter ⚠
p.Arg276Trp Single submitter ⚠
p.Arg316His Single submitter ⚠
p.Arg331Gln Single submitter ⚠
p.Arg339Gln Single submitter ⚠
p.Arg430Cys Single submitter ⚠
p.Arg440Cys Single submitter ⚠
p.Arg473Thr Single submitter ⚠
p.Arg479Cys Single submitter ⚠
p.Arg479Gly Single submitter ⚠
p.Arg496Trp Single submitter ⚠
p.Arg503Trp Single submitter ⚠
p.Arg534Gln Single submitter ⚠
p.Arg538Ile Single submitter ⚠
p.Arg598His Single submitter ⚠
p.Arg601His Single submitter ⚠
p.Arg610Gly Single submitter ⚠
p.Asn217Asp Single submitter ⚠
p.Asn85Ile Single submitter ⚠
p.Asn85Ser Single submitter ⚠
p.Asp102Gly Single submitter ⚠
p.Asp265Val Single submitter ⚠
p.Asp529Gly Single submitter ⚠
p.Asp639Glu Single submitter ⚠
p.Asp63Asn Single submitter ⚠
p.Asp72Gly Single submitter ⚠
p.Cys62Arg Single submitter ⚠
p.Gln114His Single submitter ⚠
p.Gln125His Single submitter ⚠
p.Gln169Arg Single submitter ⚠
p.Gln336Arg Single submitter ⚠
p.Gln342Arg Single submitter ⚠
p.Gln504Arg Single submitter ⚠
p.Gln604Arg Single submitter ⚠
p.Gln604His Single submitter ⚠
p.Gln67Glu Single submitter ⚠
p.Glu101Ala Single submitter ⚠
p.Glu146Ala Single submitter ⚠
p.Glu14Gly Single submitter ⚠
p.Glu220Asp Single submitter ⚠
p.Glu568Lys Single submitter ⚠
p.Gly648Arg Single submitter ⚠
p.His155Arg Single submitter ⚠
p.His411Pro Single submitter ⚠
p.His48Pro Single submitter ⚠
p.His643Tyr Single submitter ⚠
p.His80Gln Single submitter ⚠
p.Ile177Thr Single submitter ⚠
p.Ile335Thr Single submitter ⚠
p.Ile386Thr Single submitter ⚠
p.Ile96Met Single submitter ⚠
p.Leu333Val Single submitter ⚠
p.Leu423Pro Single submitter ⚠
p.Leu566Phe Single submitter ⚠
p.Leu59Val Single submitter ⚠
p.Leu613Pro Single submitter ⚠
p.Lys120Arg Single submitter ⚠
p.Lys264Arg Single submitter ⚠
p.Lys278Glu Single submitter ⚠
p.Lys282Glu Single submitter ⚠
p.Lys282Thr Single submitter ⚠
p.Lys37Gln Single submitter ⚠
p.Lys37Glu Single submitter ⚠
p.Lys650Arg Single submitter ⚠
p.Lys650Glu Single submitter ⚠
p.Met374Thr Single submitter ⚠
p.Met508Thr Single submitter ⚠
p.Phe11Leu Single submitter ⚠
p.Pro212Leu Single submitter ⚠
p.Pro340Ser Single submitter ⚠
p.Pro427Ser Single submitter ⚠
p.Pro444Ser Single submitter ⚠
p.Pro530Leu Single submitter ⚠
p.Pro530Ser Single submitter ⚠
p.Pro8Arg Single submitter ⚠
p.Ser288Gly Single submitter ⚠
p.Ser302Cys Single submitter ⚠
p.Ser486Gly Single submitter ⚠
p.Ser535Phe Single submitter ⚠
p.Ser593Leu Single submitter ⚠
p.Ser596Arg Single submitter ⚠
p.Ser65Arg Single submitter ⚠
p.Thr620Arg Single submitter ⚠
p.Thr641Lys Single submitter ⚠
p.Thr68Met Single submitter ⚠
p.Trp553Arg Single submitter ⚠
p.Tyr214Cys Single submitter ⚠
p.Tyr221Cys Single submitter ⚠
p.Tyr438His Single submitter ⚠
p.Val160Leu Single submitter ⚠
p.Val208Ile Single submitter ⚠
p.Val213Ile Single submitter ⚠
p.Val213Leu Single submitter ⚠
p.Val213Phe Single submitter ⚠
p.Val230Gly Single submitter ⚠
p.Val232Ala Single submitter ⚠
p.Val232Met Single submitter ⚠
p.Val391Ala Single submitter ⚠
p.Val45Leu Single submitter ⚠
p.Val52Leu Single submitter ⚠
p.Val628Leu Single submitter ⚠
p.Val642Gly Single submitter ⚠
p.Val642Phe Single submitter ⚠