VPS4B — 40 ClinVar variants
All ClinVar germline VPS4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
40 Uncertain significance
Full VPS4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- VPS4B p.Ala123Val Uncertain significance Single submitter
- VPS4B p.Ala24Ser Uncertain significance Single submitter
- VPS4B p.Ala95Val Uncertain significance Single submitter
- VPS4B p.Arg128Gln Uncertain significance Single submitter
- VPS4B p.Arg252Cys Uncertain significance Single submitter
- VPS4B p.Asn319Lys Uncertain significance Single submitter
- VPS4B p.Gln84His Uncertain significance Single submitter
- VPS4B p.Glu225Asp Uncertain significance Single submitter
- VPS4B p.Gly387Arg Uncertain significance Single submitter
- VPS4B p.His304Arg Uncertain significance Single submitter
- VPS4B p.His375Tyr Uncertain significance Single submitter
- VPS4B p.His428Arg Uncertain significance Single submitter
- VPS4B p.Ile126Thr Uncertain significance Single submitter
- VPS4B p.Ile254Val Uncertain significance Single submitter
- VPS4B p.Ile392Val Uncertain significance Single submitter
- VPS4B p.Leu116Pro Uncertain significance Single submitter
- VPS4B p.Leu418Val Uncertain significance Single submitter
- VPS4B p.Phe156Leu Uncertain significance Single submitter
- VPS4B p.Phe232Ser Uncertain significance Single submitter
- VPS4B p.Pro386Ser Uncertain significance Single submitter
- VPS4B p.Pro92Leu Uncertain significance Single submitter
- VPS4B p.Ser320Asn Uncertain significance Single submitter
- VPS4B p.Ser385Cys Uncertain significance Single submitter
- VPS4B p.Ser385Pro Uncertain significance Single submitter
- VPS4B p.Ser410Ala Uncertain significance Single submitter
- VPS4B p.Ser57Asn Uncertain significance Single submitter
- VPS4B p.Thr195Ile Uncertain significance Single submitter
- VPS4B p.Tyr75His Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- VPS4B p.Ala251Thr Uncertain significance Single submitter
- VPS4B p.Ala305Val Uncertain significance Single submitter
- VPS4B p.Ala307Thr Uncertain significance Single submitter
- VPS4B p.Arg366His Uncertain significance Single submitter
- VPS4B p.Gly51Ser Uncertain significance Single submitter
- VPS4B p.Ile288Met Uncertain significance Single submitter
- VPS4B p.Leu381Val Uncertain significance Single submitter
- VPS4B p.Ser206Ala Uncertain significance Single submitter
- VPS4B p.Ser412Leu Uncertain significance Single submitter
- VPS4B p.Thr322Met Uncertain significance Single submitter
- VPS4B p.Val425Ile Uncertain significance Single submitter
All VPS4B variants
Uncertain significance 40
- p.Ala123Val Single submitter ⚠
- p.Ala24Ser Single submitter ⚠
- p.Ala251Thr Single submitter ⚠
- p.Ala305Val Single submitter ⚠
- p.Ala307Thr Single submitter ⚠
- p.Ala95Val Single submitter ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg252Cys Single submitter ⚠
- p.Arg366His Single submitter ⚠
- p.Asn319Lys Single submitter ⚠
- p.Gln84His Single submitter ⚠
- p.Glu225Asp Single submitter ⚠
- p.Gly387Arg Single submitter ⚠
- p.Gly51Ser Single submitter ⚠
- p.His304Arg Single submitter ⚠
- p.His375Tyr Single submitter ⚠
- p.His428Arg Single submitter ⚠
- p.Ile126Thr Single submitter ⚠
- p.Ile254Val Single submitter ⚠
- p.Ile288Met Single submitter ⚠
- p.Ile392Val Single submitter ⚠
- p.Leu116Pro Single submitter ⚠
- p.Leu204Ile Single submitter
- p.Leu381Val Single submitter ⚠
- p.Leu418Val Single submitter ⚠
- p.Phe156Leu Single submitter ⚠
- p.Phe232Ser Single submitter ⚠
- p.Pro386Ser Single submitter ⚠
- p.Pro92Leu Single submitter ⚠
- p.Ser206Ala Single submitter ⚠
- p.Ser320Asn Single submitter ⚠
- p.Ser385Cys Single submitter ⚠
- p.Ser385Pro Single submitter ⚠
- p.Ser410Ala Single submitter ⚠
- p.Ser412Leu Single submitter ⚠
- p.Ser57Asn Single submitter ⚠
- p.Thr195Ile Single submitter ⚠
- p.Thr322Met Single submitter ⚠
- p.Tyr75His Single submitter ⚠
- p.Val425Ile Single submitter ⚠