EPB41L4B — 110 ClinVar variants
All ClinVar germline EPB41L4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →
1 Conflicting · 2 Likely benign · 107 Uncertain significance
Full EPB41L4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 107
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 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPB41L4B p.Ala205Gly Uncertain significance Single submitter
- EPB41L4B p.Ala21Pro Uncertain significance Single submitter
- EPB41L4B p.Ala52Gly Uncertain significance Single submitter
- EPB41L4B p.Ala559Asp Uncertain significance Single submitter
- EPB41L4B p.Ala605Val Uncertain significance Single submitter
- EPB41L4B p.Ala646Thr Uncertain significance Single submitter
- EPB41L4B p.Ala692Val Uncertain significance Single submitter
- EPB41L4B p.Ala80Gly Uncertain significance Single submitter
- EPB41L4B p.Arg173Cys Uncertain significance Single submitter
- EPB41L4B p.Arg173His Uncertain significance Single submitter
- EPB41L4B p.Arg230Trp Uncertain significance Single submitter
- EPB41L4B p.Arg368Trp Uncertain significance Single submitter
- EPB41L4B p.Arg377Ser Uncertain significance Single submitter
- EPB41L4B p.Arg483Gln Uncertain significance Single submitter
- EPB41L4B p.Arg674Lys Uncertain significance Single submitter
- EPB41L4B p.Arg88Gly Uncertain significance Single submitter
- EPB41L4B p.Asn376Ser Uncertain significance Single submitter
- EPB41L4B p.Asn528Ser Uncertain significance Single submitter
- EPB41L4B p.Asn537Asp Uncertain significance Single submitter
- EPB41L4B p.Asp331Gly Uncertain significance Single submitter
- EPB41L4B p.Asp685Glu Uncertain significance Single submitter
- EPB41L4B p.Asp690Glu Uncertain significance Single submitter
- EPB41L4B p.Asp831Glu Uncertain significance Single submitter
- EPB41L4B p.Cys797Gly Uncertain significance Single submitter
- EPB41L4B p.Cys840Arg Uncertain significance Single submitter
- EPB41L4B p.Gln515His Uncertain significance Single submitter
- EPB41L4B p.Glu657Asp Uncertain significance Single submitter
- EPB41L4B p.Glu657Lys Uncertain significance Single submitter
- EPB41L4B p.Gly28Trp Uncertain significance Single submitter
- EPB41L4B p.Gly487Ser Uncertain significance Single submitter
- EPB41L4B p.Gly492Glu Uncertain significance Single submitter
- EPB41L4B p.Gly492Val Uncertain significance Single submitter
- EPB41L4B p.Gly56Val Uncertain significance Single submitter
- EPB41L4B p.Gly628Glu Uncertain significance Single submitter
- EPB41L4B p.Gly63Ser Uncertain significance Single submitter
- EPB41L4B p.Gly747Glu Uncertain significance Single submitter
- EPB41L4B p.His517Arg Uncertain significance Single submitter
- EPB41L4B p.His778Tyr Uncertain significance Single submitter
- EPB41L4B p.Ile807Met Uncertain significance Single submitter
- EPB41L4B p.Ile866Val Uncertain significance Single submitter
- EPB41L4B p.Leu66Arg Uncertain significance Single submitter
- EPB41L4B p.Leu847Pro Uncertain significance Single submitter
- EPB41L4B p.Leu886Pro Uncertain significance Single submitter
- EPB41L4B p.Lys151Glu Uncertain significance Single submitter
- EPB41L4B p.Lys193Asn Uncertain significance Single submitter
- EPB41L4B p.Lys439Glu Uncertain significance Single submitter
- EPB41L4B p.Lys588Glu Uncertain significance Single submitter
- EPB41L4B p.Lys733Glu Uncertain significance Single submitter
- EPB41L4B p.Met815Ile Uncertain significance Single submitter
- EPB41L4B p.Pro495Leu Uncertain significance Single submitter
- EPB41L4B p.Pro495Thr Uncertain significance Single submitter
- EPB41L4B p.Pro601Ser Uncertain significance Single submitter
- EPB41L4B p.Pro603Ser Uncertain significance Single submitter
- EPB41L4B p.Pro717Leu Uncertain significance Single submitter
- EPB41L4B p.Pro784Leu Uncertain significance Single submitter
- EPB41L4B p.Ser385Cys Uncertain significance Single submitter
- EPB41L4B p.Ser46Ala Uncertain significance Single submitter
- EPB41L4B p.Ser479Arg Uncertain significance Single submitter
- EPB41L4B p.Ser726Leu Uncertain significance Single submitter
- EPB41L4B p.Ser76Ala Uncertain significance Single submitter
- EPB41L4B p.Ser779Thr Uncertain significance Single submitter
- EPB41L4B p.Ser835Gly Uncertain significance Single submitter
- EPB41L4B p.Thr123Arg Uncertain significance Single submitter
- EPB41L4B p.Thr498Asn Uncertain significance Single submitter
- EPB41L4B p.Thr68Asn Uncertain significance Single submitter
- EPB41L4B p.Thr706Ala Uncertain significance Single submitter
- EPB41L4B p.Thr852Asn Uncertain significance Single submitter
- EPB41L4B p.Trp247Arg Uncertain significance Single submitter
- EPB41L4B p.Tyr125Asn Uncertain significance Single submitter
- EPB41L4B p.Val202Met Uncertain significance Single submitter
- EPB41L4B p.Val327Met Uncertain significance Single submitter
- EPB41L4B p.Val860Ile Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- EPB41L4B p.Ala22Val Uncertain significance Single submitter
- EPB41L4B p.Ala44Pro Uncertain significance Single submitter
- EPB41L4B p.Ala877Val Conflicting Single submitter
- EPB41L4B p.Arg11Ser Uncertain significance Single submitter
- EPB41L4B p.Arg19Gln Uncertain significance Single submitter
- EPB41L4B p.Arg392Gln Uncertain significance Single submitter
- EPB41L4B p.Arg3Pro Uncertain significance Single submitter
- EPB41L4B p.Arg483Trp Uncertain significance Single submitter
- EPB41L4B p.Arg6His Uncertain significance Single submitter
- EPB41L4B p.Asn171Lys Uncertain significance Single submitter
- EPB41L4B p.Glu586Lys Uncertain significance Single submitter
- EPB41L4B p.Glu899Lys Uncertain significance Single submitter
- EPB41L4B p.Gly39Arg Uncertain significance Single submitter
- EPB41L4B p.Gly39Trp Uncertain significance Single submitter
- EPB41L4B p.Gly63Cys Uncertain significance Single submitter
- EPB41L4B p.His508Tyr Uncertain significance Single submitter
- EPB41L4B p.Ile152Thr Uncertain significance Single submitter
- EPB41L4B p.Leu50Arg Uncertain significance Single submitter
- EPB41L4B p.Leu66Met Uncertain significance Single submitter
- EPB41L4B p.Leu687Phe Uncertain significance Single submitter
- EPB41L4B p.Lys319Arg Uncertain significance Single submitter
- EPB41L4B p.Lys322Arg Uncertain significance Single submitter
- EPB41L4B p.Met239Val Uncertain significance Single submitter
- EPB41L4B p.Pro370Leu Uncertain significance Single submitter
- EPB41L4B p.Pro60Leu Uncertain significance Single submitter
- EPB41L4B p.Pro811Leu Uncertain significance Single submitter
- EPB41L4B p.Ser373Arg Uncertain significance Single submitter
- EPB41L4B p.Thr369Met Uncertain significance Single submitter
- EPB41L4B p.Thr699Ile Uncertain significance Single submitter
- EPB41L4B p.Thr804Met Uncertain significance Single submitter
- EPB41L4B p.Tyr17Asp Uncertain significance Single submitter
- EPB41L4B p.Tyr680His Uncertain significance Single submitter
- EPB41L4B p.Val714Met Uncertain significance Single submitter
- EPB41L4B p.Val812Phe Uncertain significance Single submitter
- EPB41L4B p.Val863Met Uncertain significance Single submitter
All EPB41L4B variants
Conflicting classifications of pathogenicity 1
- p.Ala877Val Single submitter ⚠
Likely benign 2
- p.Ala851Val Single submitter
- p.Arg649= Single submitter
Uncertain significance 107
- p.Ala205Gly Single submitter ⚠
- p.Ala21Pro Single submitter ⚠
- p.Ala22Val Single submitter ⚠
- p.Ala44Pro Single submitter ⚠
- p.Ala52Gly Single submitter ⚠
- p.Ala559Asp Single submitter ⚠
- p.Ala605Val Single submitter ⚠
- p.Ala646Thr Single submitter ⚠
- p.Ala692Val Single submitter ⚠
- p.Ala80Gly Single submitter ⚠
- p.Arg11Ser Single submitter ⚠
- p.Arg173Cys Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg19Gln Single submitter ⚠
- p.Arg230Trp Single submitter ⚠
- p.Arg368Trp Single submitter ⚠
- p.Arg377Ser Single submitter ⚠
- p.Arg392Gln Single submitter ⚠
- p.Arg3Pro Single submitter ⚠
- p.Arg483Gln Single submitter ⚠
- p.Arg483Trp Single submitter ⚠
- p.Arg674Lys Single submitter ⚠
- p.Arg6His Single submitter ⚠
- p.Arg88Gly Single submitter ⚠
- p.Asn171Lys Single submitter ⚠
- p.Asn376Ser Single submitter ⚠
- p.Asn528Ser Single submitter ⚠
- p.Asn537Asp Single submitter ⚠
- p.Asp331Gly Single submitter ⚠
- p.Asp685Glu Single submitter ⚠
- p.Asp690Glu Single submitter ⚠
- p.Asp831Glu Single submitter ⚠
- p.Cys797Gly Single submitter ⚠
- p.Cys840Arg Single submitter ⚠
- p.Gln515His Single submitter ⚠
- p.Glu586Lys Single submitter ⚠
- p.Glu657Asp Single submitter ⚠
- p.Glu657Lys Single submitter ⚠
- p.Glu899Lys Single submitter ⚠
- p.Gly28Trp Single submitter ⚠
- p.Gly39Arg Single submitter ⚠
- p.Gly39Trp Single submitter ⚠
- p.Gly487Ser Single submitter ⚠
- p.Gly492Glu Single submitter ⚠
- p.Gly492Val Single submitter ⚠
- p.Gly56Val Single submitter ⚠
- p.Gly628Glu Single submitter ⚠
- p.Gly63Cys Single submitter ⚠
- p.Gly63Ser Single submitter ⚠
- p.Gly747Glu Single submitter ⚠
- p.His508Tyr Single submitter ⚠
- p.His517Arg Single submitter ⚠
- p.His778Tyr Single submitter ⚠
- p.Ile152Thr Single submitter ⚠
- p.Ile807Met Single submitter ⚠
- p.Ile866Val Single submitter ⚠
- p.Leu50Arg Single submitter ⚠
- p.Leu66Arg Single submitter ⚠
- p.Leu66Met Single submitter ⚠
- p.Leu687Phe Single submitter ⚠
- p.Leu847Pro Single submitter ⚠
- p.Leu886Pro Single submitter ⚠
- p.Lys151Glu Single submitter ⚠
- p.Lys193Asn Single submitter ⚠
- p.Lys319Arg Single submitter ⚠
- p.Lys322Arg Single submitter ⚠
- p.Lys439Glu Single submitter ⚠
- p.Lys588Glu Single submitter ⚠
- p.Lys733Glu Single submitter ⚠
- p.Met239Val Single submitter ⚠
- p.Met815Ile Single submitter ⚠
- p.Phe130fs Single submitter
- p.Pro370Leu Single submitter ⚠
- p.Pro495Leu Single submitter ⚠
- p.Pro495Thr Single submitter ⚠
- p.Pro601Ser Single submitter ⚠
- p.Pro603Ser Single submitter ⚠
- p.Pro60Leu Single submitter ⚠
- p.Pro717Leu Single submitter ⚠
- p.Pro784Leu Single submitter ⚠
- p.Pro811Leu Single submitter ⚠
- p.Ser373Arg Single submitter ⚠
- p.Ser385Cys Single submitter ⚠
- p.Ser46Ala Single submitter ⚠
- p.Ser479Arg Single submitter ⚠
- p.Ser726Leu Single submitter ⚠
- p.Ser76Ala Single submitter ⚠
- p.Ser779Thr Single submitter ⚠
- p.Ser835Gly Single submitter ⚠
- p.Thr123Arg Single submitter ⚠
- p.Thr369Met Single submitter ⚠
- p.Thr498Asn Single submitter ⚠
- p.Thr68Asn Single submitter ⚠
- p.Thr699Ile Single submitter ⚠
- p.Thr706Ala Single submitter ⚠
- p.Thr804Met Single submitter ⚠
- p.Thr852Asn Single submitter ⚠
- p.Trp247Arg Single submitter ⚠
- p.Tyr125Asn Single submitter ⚠
- p.Tyr17Asp Single submitter ⚠
- p.Tyr680His Single submitter ⚠
- p.Val202Met Single submitter ⚠
- p.Val327Met Single submitter ⚠
- p.Val714Met Single submitter ⚠
- p.Val812Phe Single submitter ⚠
- p.Val860Ile Single submitter ⚠
- p.Val863Met Single submitter ⚠