ZBED4 — 178 ClinVar variants

All ClinVar germline ZBED4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 154 flagged for review →

1 Pathogenic · 6 Benign · 15 Likely benign · 156 Uncertain significance

Full ZBED4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 154

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 140

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

Predictors split 14

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

All ZBED4 variants

Pathogenic 1

p.Arg58Ter No assertion criteria Short stature

Benign 6

p.Ala59= Multiple submitters
p.Asn810= Multiple submitters
p.Met1150Thr Multiple submitters
p.Ser824= Multiple submitters
p.Thr575= Multiple submitters
p.Asn1141= Single submitter

Likely benign 15

p.Ala1109Ser Single submitter
p.Ala1116Thr Single submitter
p.Ala196Thr Single submitter
p.Arg935Cys Single submitter
p.Asn1136Ser Single submitter
p.Asn645Ser Single submitter
p.Gly13Ser Single submitter
p.Gly246Ser Single submitter
p.Ile909Val Single submitter
p.Lys1108Arg Single submitter
p.Lys891Arg Single submitter
p.Met239Val Single submitter
p.Thr354Ala Single submitter
p.Tyr479His Single submitter
p.Tyr649= Single submitter

Uncertain significance 156

p.Ala1051Val Single submitter ⚠
p.Ala1060Thr Single submitter ⚠
p.Ala1060Val Single submitter ⚠
p.Ala1116Val Single submitter ⚠
p.Ala196Val Single submitter ⚠
p.Ala250Ser Single submitter ⚠
p.Ala260Thr Single submitter ⚠
p.Ala271Val Single submitter ⚠
p.Ala445Thr Single submitter ⚠
p.Ala518Thr Single submitter ⚠
p.Ala526Val Single submitter ⚠
p.Ala59Thr Single submitter ⚠
p.Ala59Val Single submitter ⚠
p.Ala638Thr Single submitter ⚠
p.Ala696Asp Single submitter ⚠
p.Ala696Thr Single submitter ⚠
p.Ala704Thr Single submitter ⚠
p.Ala866Val Single submitter
p.Ala878Val Single submitter ⚠
p.Ala936Val Single submitter ⚠
p.Arg1011Cys Single submitter ⚠
p.Arg1011His Single submitter ⚠
p.Arg110Trp Single submitter ⚠
p.Arg287Lys Single submitter ⚠
p.Arg336Cys Single submitter ⚠
p.Arg336His Single submitter ⚠
p.Arg439Lys Single submitter ⚠
p.Arg478Gln Single submitter ⚠
p.Arg478Trp Single submitter ⚠
p.Arg584Gln Single submitter ⚠
p.Arg621Gly Single submitter ⚠
p.Arg628Gln Single submitter ⚠
p.Arg628Trp Single submitter ⚠
p.Arg631Trp Single submitter ⚠
p.Arg859Gln Single submitter ⚠
p.Arg862Trp Single submitter ⚠
p.Arg945Gln Single submitter ⚠
p.Arg983Cys Single submitter ⚠
p.Asn301His Single submitter ⚠
p.Asn738Lys Single submitter ⚠
p.Asp28Asn Single submitter ⚠
p.Asp30Gly Single submitter ⚠
p.Asp434Val Single submitter ⚠
p.Asp650His Single submitter ⚠
p.Asp677His Single submitter ⚠
p.Asp979Asn Single submitter ⚠
p.Cys480Phe Single submitter ⚠
p.Cys482Phe Single submitter ⚠
p.Cys496Tyr Single submitter ⚠
p.Cys8Phe Single submitter ⚠
p.Gln671His Single submitter ⚠
p.Glu1021Ala Single submitter ⚠
p.Glu1034Lys Single submitter ⚠
p.Glu243Gly Single submitter ⚠
p.Glu342Asp Single submitter ⚠
p.Glu382Gly Single submitter ⚠
p.Glu442Lys Single submitter ⚠
p.Glu45Lys Single submitter ⚠
p.Glu532Gly Single submitter ⚠
p.Glu742Gln Single submitter ⚠
p.Glu80Lys Single submitter ⚠
p.Glu872Ala Single submitter ⚠
p.Glu872Asp Single submitter ⚠
p.Glu872Lys Single submitter ⚠
p.Glu900Lys Single submitter ⚠
p.Glu920Gly Single submitter ⚠
p.Gly1142Ser Single submitter ⚠
p.Gly1145Val Single submitter ⚠
p.Gly246Asp Single submitter ⚠
p.Gly345Asp Single submitter ⚠
p.Gly421Glu Single submitter ⚠
p.Gly510Arg Single submitter ⚠
p.Gly517Asp Single submitter ⚠
p.Gly55Ser Single submitter ⚠
p.Gly637Asp Single submitter ⚠
p.His400Asp Single submitter ⚠
p.His463Arg Single submitter ⚠
p.His464Gln Single submitter ⚠
p.His861Arg Single submitter ⚠
p.His962Tyr Single submitter ⚠
p.Ile170Thr Single submitter ⚠
p.Ile20Val Single submitter ⚠
p.Ile569Val Single submitter ⚠
p.Ile885Val Single submitter ⚠
p.Leu1149Phe Single submitter ⚠
p.Leu187Phe Single submitter ⚠
p.Leu275Ile Single submitter ⚠
p.Leu299Pro Single submitter ⚠
p.Leu501Val Single submitter
p.Leu538Phe Single submitter ⚠
p.Leu5Phe Single submitter ⚠
p.Leu5Trp Single submitter ⚠
p.Leu964Phe Single submitter ⚠
p.Lys141Arg Single submitter ⚠
p.Lys23Gln Single submitter ⚠
p.Lys279Asn Single submitter ⚠
p.Lys279Glu Single submitter ⚠
p.Lys292Glu Single submitter ⚠
p.Lys488Asn Single submitter ⚠
p.Lys537Gln Single submitter ⚠
p.Lys591Arg Single submitter ⚠
p.Lys591Asn Single submitter ⚠
p.Lys69Arg Single submitter ⚠
p.Met137Val Single submitter ⚠
p.Met239Thr Single submitter ⚠
p.Met331Val Single submitter ⚠
p.Met898Val Single submitter ⚠
p.Phe125Ile Single submitter ⚠
p.Phe125Leu Single submitter ⚠
p.Phe143Leu Single submitter ⚠
p.Pro1000Leu Single submitter ⚠
p.Pro1126Ser Single submitter ⚠
p.Pro217Leu Single submitter ⚠
p.Pro364Leu Single submitter ⚠
p.Pro365Leu Single submitter ⚠
p.Pro554Leu Single submitter ⚠
p.Pro625Leu Single submitter ⚠
p.Pro630Leu Single submitter ⚠
p.Pro71Leu Single submitter ⚠
p.Pro889Ala Single submitter ⚠
p.Ser1015Phe Single submitter ⚠
p.Ser1038Phe Single submitter ⚠
p.Ser1053Phe Single submitter ⚠
p.Ser1058Thr Single submitter ⚠
p.Ser181Leu Single submitter ⚠
p.Ser184Phe Single submitter ⚠
p.Ser228Pro Single submitter ⚠
p.Ser242Leu Single submitter ⚠
p.Ser374Leu Single submitter ⚠
p.Ser375Phe Single submitter ⚠
p.Ser385Leu Single submitter ⚠
p.Ser415Leu Single submitter ⚠
p.Ser424Leu Single submitter ⚠
p.Ser426Phe Single submitter ⚠
p.Ser530Phe Single submitter ⚠
p.Ser557Gly Single submitter ⚠
p.Ser571Pro Single submitter ⚠
p.Ser674Ala Single submitter ⚠
p.Ser693Thr Single submitter ⚠
p.Ser76Phe Single submitter ⚠
p.Ser91Arg Single submitter ⚠
p.Ser991Asn Single submitter ⚠
p.Thr1018Met Single submitter ⚠
p.Thr346Met Single submitter ⚠
p.Thr52Ile Single submitter ⚠
p.Thr619Met Single submitter ⚠
p.Thr644Ile Single submitter ⚠
p.Tyr1168His Single submitter ⚠
p.Tyr352Phe Single submitter ⚠
p.Val1129Ile Single submitter ⚠
p.Val16Ile Single submitter ⚠
p.Val241Ile Single submitter ⚠
p.Val339Met Single submitter ⚠
p.Val453Phe Single submitter ⚠
p.Val679Ile Single submitter ⚠
p.Arg336Gly No assertion criteria ⚠