UBASH3A — 139 ClinVar variants

All ClinVar germline UBASH3A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →

7 Benign · 13 Likely benign · 119 Uncertain significance

Full UBASH3A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 111

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 92

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

Predictors split 19

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

All UBASH3A variants

Benign 7

c.1393+3A>C Multiple submitters
p.Gly601= Multiple submitters
p.Ile303= Multiple submitters
p.Ile658Val Multiple submitters
p.Phe304= Multiple submitters
p.Thr144= Multiple submitters
p.Thr392= Multiple submitters

Likely benign 13

p.Ala50= Single submitter
p.Ala551Ser Single submitter
p.Gln571Arg Single submitter
p.Ile539Val Single submitter
p.Met562Val Single submitter
p.Met569Val Single submitter
p.Pro202Leu Single submitter
p.Ser23Leu Single submitter
p.Thr296Met Single submitter
p.Thr566= Single submitter
p.Val161Ile Single submitter
p.Val215Met Single submitter
p.Ser95= No assertion criteria UBASH3A-related disorder

Uncertain significance 119

p.Ile463Phe Multiple submitters ⚠
p.Ala166Thr Single submitter ⚠
p.Ala173Thr Single submitter ⚠
p.Ala177Thr Single submitter ⚠
p.Ala266Thr Single submitter ⚠
p.Ala388Val Single submitter ⚠
p.Ala414Pro Single submitter ⚠
p.Ala50Val Single submitter ⚠
p.Ala519Asp Single submitter ⚠
p.Ala546Val Single submitter ⚠
p.Ala551Thr Single submitter ⚠
p.Ala650Thr Single submitter ⚠
p.Ala650Val Single submitter ⚠
p.Arg170Trp Single submitter
p.Arg190Cys Single submitter ⚠
p.Arg254Lys Single submitter ⚠
p.Arg274Cys Single submitter ⚠
p.Arg328Gln Single submitter ⚠
p.Arg328Gly Single submitter ⚠
p.Arg328Trp Single submitter ⚠
p.Arg402Cys Single submitter ⚠
p.Arg439Lys Single submitter ⚠
p.Arg440Gln Single submitter
p.Arg440Trp Single submitter
p.Arg442Leu Single submitter ⚠
p.Arg474Lys Single submitter ⚠
p.Arg485Cys Single submitter ⚠
p.Arg564Lys Single submitter ⚠
p.Arg597Gln Single submitter ⚠
p.Arg597Trp Single submitter ⚠
p.Arg605Trp Single submitter ⚠
p.Arg93Lys Single submitter ⚠
p.Asn14Lys Single submitter ⚠
p.Asn291Lys Single submitter ⚠
p.Asn538Ser Single submitter ⚠
p.Asp121Glu Single submitter ⚠
p.Asp272Ala Single submitter ⚠
p.Asp293Glu Single submitter ⚠
p.Asp430Glu Single submitter ⚠
p.Asp563Glu Single submitter ⚠
p.Asp579Tyr Single submitter ⚠
p.Asp68Glu Single submitter ⚠
p.Cys327Ser Single submitter ⚠
p.Cys435Tyr Single submitter ⚠
p.Gln612Glu Single submitter ⚠
p.Gln7Lys Single submitter ⚠
p.Glu312Lys Single submitter ⚠
p.Glu531Gln Single submitter
p.Glu630Asp Single submitter ⚠
p.Gly199Ala Single submitter ⚠
p.Gly373Arg Single submitter ⚠
p.Gly404Arg Single submitter ⚠
p.Gly412Arg Single submitter ⚠
p.Gly457Ser Single submitter ⚠
p.Gly581Ala Single submitter ⚠
p.Gly581Ser Single submitter ⚠
p.Gly601Arg Single submitter ⚠
p.Gly621Asp Single submitter ⚠
p.Gly647Arg Single submitter ⚠
p.His105Pro Single submitter ⚠
p.His110Gln Single submitter ⚠
p.His151Pro Single submitter ⚠
p.His217Tyr Single submitter ⚠
p.Ile303Met Single submitter
p.Ile539Leu Single submitter ⚠
p.Ile658Met Single submitter ⚠
p.Leu16Phe Single submitter ⚠
p.Leu16Val Single submitter ⚠
p.Leu237Ser Single submitter ⚠
p.Leu24Phe Single submitter ⚠
p.Leu359Pro Single submitter ⚠
p.Leu549Arg Single submitter ⚠
p.Leu549Pro Single submitter ⚠
p.Leu8Ile Single submitter ⚠
p.Leu8Val Single submitter ⚠
p.Lys17Arg Single submitter ⚠
p.Lys491Asn Single submitter ⚠
p.Lys501Glu Single submitter ⚠
p.Met174Thr Single submitter ⚠
p.Met174Val Single submitter ⚠
p.Met527Arg Single submitter ⚠
p.Phe117Leu Single submitter ⚠
p.Phe353Cys Single submitter ⚠
p.Pro143Ser Single submitter
p.Pro165Leu Single submitter ⚠
p.Pro332Leu Single submitter ⚠
p.Pro34Gln Single submitter ⚠
p.Pro34Leu Single submitter
p.Pro509Ser Single submitter
p.Pro577Leu Single submitter ⚠
p.Pro603Gln Single submitter ⚠
p.Pro603Leu Single submitter ⚠
p.Ser162Thr Single submitter ⚠
p.Ser164Arg Single submitter ⚠
p.Ser207Thr Single submitter ⚠
p.Ser314Arg Single submitter ⚠
p.Ser372Arg Single submitter ⚠
p.Ser95Ile Single submitter ⚠
p.Thr379Met Single submitter ⚠
p.Thr45Met Single submitter ⚠
p.Thr49Met Single submitter ⚠
p.Thr522Ile Single submitter ⚠
p.Thr523Ile Single submitter ⚠
p.Thr525Ile Single submitter ⚠
p.Thr566Met Single submitter ⚠
p.Thr596Lys Single submitter ⚠
p.Thr81Met Single submitter ⚠
p.Trp264Arg Single submitter ⚠
p.Trp415Arg Single submitter ⚠
p.Tyr218Cys Single submitter ⚠
p.Tyr278Asn Single submitter ⚠
p.Val168Ile Single submitter ⚠
p.Val188Ile Single submitter ⚠
p.Val292Met Single submitter ⚠
p.Val318Met Single submitter ⚠
p.Val507Leu Single submitter ⚠
p.Val570Leu Single submitter ⚠
p.Val573Ile Single submitter ⚠
p.Val637Ala Single submitter ⚠