UBASH3B — 72 ClinVar variants
All ClinVar germline UBASH3B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
5 Benign · 5 Likely benign · 62 Uncertain significance
Full UBASH3B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UBASH3B p.Ala194Val Uncertain significance Single submitter
- UBASH3B p.Ala507Val Uncertain significance Single submitter
- UBASH3B p.Ala575Ser Uncertain significance Single submitter
- UBASH3B p.Arg249Trp Uncertain significance Single submitter
- UBASH3B p.Arg413His Uncertain significance Single submitter
- UBASH3B p.Arg433Gln Uncertain significance Single submitter
- UBASH3B p.Arg494His Uncertain significance Single submitter
- UBASH3B p.Arg643Lys Uncertain significance Single submitter
- UBASH3B p.Asn480Ser Uncertain significance Single submitter
- UBASH3B p.Asn569Lys Uncertain significance Single submitter
- UBASH3B p.Asp106Asn Uncertain significance Single submitter
- UBASH3B p.Asp106Gly Uncertain significance Single submitter
- UBASH3B p.Asp279His Uncertain significance Single submitter
- UBASH3B p.Glu16Asp Uncertain significance Single submitter
- UBASH3B p.Glu454Gly Uncertain significance Single submitter
- UBASH3B p.Glu519Val Uncertain significance Single submitter
- UBASH3B p.Glu614Lys Uncertain significance Single submitter
- UBASH3B p.Glu618Lys Uncertain significance Single submitter
- UBASH3B p.Gly278Arg Uncertain significance Single submitter
- UBASH3B p.Gly345Val Uncertain significance Single submitter
- UBASH3B p.Gly412Val Uncertain significance Single submitter
- UBASH3B p.Ile560Leu Uncertain significance Single submitter
- UBASH3B p.Leu347Ser Uncertain significance Single submitter
- UBASH3B p.Leu457Val Uncertain significance Single submitter
- UBASH3B p.Leu525Pro Uncertain significance Single submitter
- UBASH3B p.Met47Arg Uncertain significance Single submitter
- UBASH3B p.Pro285Ser Uncertain significance Single submitter
- UBASH3B p.Pro372Leu Uncertain significance Single submitter
- UBASH3B p.Pro9Thr Uncertain significance Single submitter
- UBASH3B p.Ser20Gly Uncertain significance Single submitter
- UBASH3B p.Ser336Leu Uncertain significance Single submitter
- UBASH3B p.Ser65Asn Uncertain significance Single submitter
- UBASH3B p.Ser8Arg Uncertain significance Single submitter
- UBASH3B p.Thr266Asn Uncertain significance Single submitter
- UBASH3B p.Thr266Ile Uncertain significance Single submitter
- UBASH3B p.Thr334Ala Uncertain significance Single submitter
- UBASH3B p.Thr334Ile Uncertain significance Single submitter
- UBASH3B p.Thr360Met Uncertain significance Single submitter
- UBASH3B p.Trp505Cys Uncertain significance Single submitter
- UBASH3B p.Val151Ile Uncertain significance Single submitter
- UBASH3B p.Val184Phe Uncertain significance Single submitter
- UBASH3B p.Val243Leu Uncertain significance Single submitter
- UBASH3B p.Val541Ala Uncertain significance Single submitter
- UBASH3B p.Val599Ile Uncertain significance Single submitter
- UBASH3B p.Val91Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- UBASH3B p.Arg252Gln Uncertain significance Single submitter
- UBASH3B p.Arg25Pro Uncertain significance Single submitter
- UBASH3B p.Arg88Gln Uncertain significance Single submitter
- UBASH3B p.Cys564Tyr Uncertain significance Single submitter
- UBASH3B p.Gln586His Uncertain significance Single submitter
- UBASH3B p.Gly304Ser Uncertain significance Single submitter
- UBASH3B p.Gly431Asp Uncertain significance Single submitter
- UBASH3B p.Lys112Asn Uncertain significance Single submitter
- UBASH3B p.Lys186Gln Uncertain significance Single submitter
- UBASH3B p.Thr150Met Uncertain significance Single submitter
- UBASH3B p.Thr510Pro Uncertain significance Single submitter
- UBASH3B p.Tyr414Phe Uncertain significance Single submitter
All UBASH3B variants
Benign 5
- p.Ala57= Multiple submitters
- p.Gln427= Multiple submitters
- p.Gly380Ser Multiple submitters
- p.Ser105= Multiple submitters
- c.403-10T>C Single submitter
Likely benign 5
- p.Ile537Val Single submitter
- p.Lys383= Single submitter
- p.Ser284= Single submitter
- p.Thr61= Single submitter
- p.Val22Leu Single submitter
Uncertain significance 62
- p.Ala194Val Single submitter ⚠
- p.Ala507Val Single submitter ⚠
- p.Ala575Ser Single submitter ⚠
- p.Arg249Trp Single submitter ⚠
- p.Arg252Gln Single submitter ⚠
- p.Arg25Pro Single submitter ⚠
- p.Arg413His Single submitter ⚠
- p.Arg428Trp Single submitter
- p.Arg433Gln Single submitter ⚠
- p.Arg494His Single submitter ⚠
- p.Arg643Lys Single submitter ⚠
- p.Arg88Gln Single submitter ⚠
- p.Asn480Ser Single submitter ⚠
- p.Asn569Lys Single submitter ⚠
- p.Asp106Asn Single submitter ⚠
- p.Asp106Gly Single submitter ⚠
- p.Asp279His Single submitter ⚠
- p.Asp597Tyr Single submitter
- p.Cys367Ser Single submitter
- p.Cys564Tyr Single submitter ⚠
- p.Gln586His Single submitter ⚠
- p.Glu16Asp Single submitter ⚠
- p.Glu311Lys Single submitter
- p.Glu454Gly Single submitter ⚠
- p.Glu519Val Single submitter ⚠
- p.Glu614Lys Single submitter ⚠
- p.Glu618Lys Single submitter ⚠
- p.Gly278Arg Single submitter ⚠
- p.Gly304Ser Single submitter ⚠
- p.Gly345Val Single submitter ⚠
- p.Gly412Val Single submitter ⚠
- p.Gly431Asp Single submitter ⚠
- p.Ile560Leu Single submitter ⚠
- p.Leu347Ser Single submitter ⚠
- p.Leu457Val Single submitter ⚠
- p.Leu525Pro Single submitter ⚠
- p.Lys112Asn Single submitter ⚠
- p.Lys186Gln Single submitter ⚠
- p.Met47Arg Single submitter ⚠
- p.Phe280Cys Single submitter
- p.Pro285Ser Single submitter ⚠
- p.Pro372Leu Single submitter ⚠
- p.Pro9Thr Single submitter ⚠
- p.Ser20Gly Single submitter ⚠
- p.Ser336Leu Single submitter ⚠
- p.Ser65Asn Single submitter ⚠
- p.Ser8Arg Single submitter ⚠
- p.Thr150Met Single submitter ⚠
- p.Thr266Asn Single submitter ⚠
- p.Thr266Ile Single submitter ⚠
- p.Thr334Ala Single submitter ⚠
- p.Thr334Ile Single submitter ⚠
- p.Thr360Met Single submitter ⚠
- p.Thr510Pro Single submitter ⚠
- p.Trp505Cys Single submitter ⚠
- p.Tyr414Phe Single submitter ⚠
- p.Val151Ile Single submitter ⚠
- p.Val184Phe Single submitter ⚠
- p.Val243Leu Single submitter ⚠
- p.Val541Ala Single submitter ⚠
- p.Val599Ile Single submitter ⚠
- p.Val91Ile Single submitter ⚠