EPB41L5 — 109 ClinVar variants

All ClinVar germline EPB41L5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →

1 Benign/Likely benign · 8 Likely benign · 100 Uncertain significance

Full EPB41L5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 95

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 83

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

Predictors split 12

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

All EPB41L5 variants

Benign/Likely benign 1

p.Gln654Leu Multiple submitters

Likely benign 8

p.Asn590Ser Single submitter
p.Ile530Val Single submitter
p.Phe5Leu Single submitter
p.Pro434_Pro437dup Single submitter
p.Ser399Leu Single submitter
p.Ser402Asn Single submitter
p.Thr194= Single submitter
p.Thr8= Single submitter

Uncertain significance 100

p.Ala224Thr Single submitter ⚠
p.Ala29Thr Single submitter ⚠
p.Ala30Thr Single submitter ⚠
p.Ala408Pro Single submitter ⚠
p.Ala424Pro Single submitter ⚠
p.Ala637Val Single submitter ⚠
p.Ala703Val Single submitter ⚠
p.Arg12Gln Single submitter ⚠
p.Arg12Trp Single submitter
p.Arg136Gly Single submitter ⚠
p.Arg15His Single submitter ⚠
p.Arg240Thr Single submitter ⚠
p.Arg24Gln Single submitter ⚠
p.Arg28His Single submitter ⚠
p.Arg664Gln Single submitter ⚠
p.Arg6Cys Single submitter ⚠
p.Asn403Ser Single submitter ⚠
p.Asn484Ser Single submitter ⚠
p.Asn602Ser Single submitter ⚠
p.Asp244Glu Single submitter ⚠
p.Asp275His Single submitter ⚠
p.Asp443Glu Single submitter ⚠
p.Asp458Val Single submitter ⚠
p.Asp623Asn Single submitter ⚠
p.Asp70Asn Single submitter ⚠
p.Asp90Tyr Single submitter ⚠
p.Cys385Arg Single submitter ⚠
p.Gln215His Single submitter ⚠
p.Gln406Arg Single submitter ⚠
p.Glu133Ala Single submitter ⚠
p.Glu19Lys Single submitter ⚠
p.Glu203Asp Single submitter ⚠
p.Glu535Lys Single submitter ⚠
p.Glu541Ala Single submitter
p.Glu644Ala Single submitter ⚠
p.Glu681Asp Single submitter ⚠
p.Glu720Ala Single submitter ⚠
p.Gly231Ala Single submitter ⚠
p.Gly671Arg Single submitter ⚠
p.Gly691Asp Single submitter ⚠
p.His17Pro Single submitter ⚠
p.His235Arg Single submitter ⚠
p.His235Tyr Single submitter ⚠
p.His32Arg Single submitter ⚠
p.His395Asp Single submitter ⚠
p.His442Tyr Single submitter ⚠
p.His586Tyr Single submitter ⚠
p.His690Pro Single submitter ⚠
p.Ile42Asn Single submitter
p.Ile430Arg Single submitter ⚠
p.Ile464Thr Single submitter ⚠
p.Ile661Val Single submitter ⚠
p.Leu171Val Single submitter ⚠
p.Leu380Val Single submitter ⚠
p.Leu459Phe Single submitter ⚠
p.Leu553Phe Single submitter ⚠
p.Leu728Ser Single submitter ⚠
p.Lys293Thr Single submitter ⚠
p.Lys563Arg Single submitter ⚠
p.Lys629Glu Single submitter ⚠
p.Lys64Arg Single submitter ⚠
p.Lys693Glu Single submitter ⚠
p.Met14Val Single submitter ⚠
p.Met229Thr Single submitter ⚠
p.Met411Leu Single submitter ⚠
p.Met474Thr Single submitter ⚠
p.Met617Ile Single submitter ⚠
p.Met682Val Single submitter ⚠
p.Met73Leu Single submitter ⚠
p.Met89Val Single submitter
p.Pro191Ala Single submitter ⚠
p.Pro495Leu Single submitter ⚠
p.Pro701Ser Single submitter ⚠
p.Pro702Ala Single submitter ⚠
p.Ser103Arg Single submitter ⚠
p.Ser13Cys Single submitter
p.Ser364Leu Single submitter ⚠
p.Ser393Arg Single submitter ⚠
p.Ser405Cys Single submitter ⚠
p.Ser413Thr Single submitter ⚠
p.Ser41Thr Single submitter ⚠
p.Ser670Arg Single submitter ⚠
p.Ser713Phe Single submitter ⚠
p.Ser713Pro Single submitter ⚠
p.Thr44Met Single submitter ⚠
p.Thr476Ile Single submitter ⚠
p.Thr53Ala Single submitter ⚠
p.Thr650Ile Single submitter ⚠
p.Thr730Ala Single submitter ⚠
p.Tyr114Asn Single submitter ⚠
p.Tyr114Cys Single submitter ⚠
p.Tyr114Phe Single submitter ⚠
p.Tyr165His Single submitter ⚠
p.Val120Ile Single submitter ⚠
p.Val329Ile Single submitter ⚠
p.Val467Ile Single submitter ⚠
p.Val547Gly Single submitter ⚠
p.Val571Ile Single submitter ⚠
p.Val57Met Single submitter ⚠
p.Val707Ile Single submitter ⚠