USP14 — 58 ClinVar variants
All ClinVar germline USP14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Pathogenic · 5 Benign · 6 Likely benign · 46 Uncertain significance
Full USP14 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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- USP14 p.Ala155Gly Uncertain significance Single submitter
- USP14 p.Arg330Gln Uncertain significance Single submitter
- USP14 p.Arg483Cys Uncertain significance Single submitter
- USP14 p.Asn280Ser Uncertain significance Single submitter
- USP14 p.Gln301Leu Uncertain significance Single submitter
- USP14 p.Glu13Asp Uncertain significance Single submitter
- USP14 p.Glu362Gln Uncertain significance Single submitter
- USP14 p.Gly17Asp Uncertain significance Single submitter
- USP14 p.Gly193Arg Uncertain significance Single submitter
- USP14 p.Ile410Thr Uncertain significance Single submitter
- USP14 p.Lys284Met Uncertain significance Single submitter
- USP14 p.Lys381Gln Uncertain significance Single submitter
- USP14 p.Met27Val Uncertain significance Single submitter
- USP14 p.Met352Thr Uncertain significance Single submitter
- USP14 p.Met488Lys Uncertain significance Single submitter
- USP14 p.Met67Val Uncertain significance Single submitter
- USP14 p.Ser318Asn Uncertain significance Single submitter
- USP14 p.Thr226Arg Uncertain significance Single submitter
- USP14 p.Thr235Lys Uncertain significance Single submitter
- USP14 p.Trp10Leu Uncertain significance Single submitter
- USP14 p.Tyr418Cys Uncertain significance Single submitter
- USP14 p.Val368Leu Uncertain significance Single submitter
- USP14 p.Val399Ile Uncertain significance Single submitter
- USP14 p.Val437Ile Uncertain significance Single submitter
- USP14 p.Val46Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- USP14 p.Asp346Asn Uncertain significance Single submitter
- USP14 p.Asp76His Uncertain significance Single submitter
- USP14 p.Asp76Val Uncertain significance Single submitter
- USP14 p.Glu264Val Uncertain significance Single submitter
- USP14 p.Glu94Gly Uncertain significance Single submitter
- USP14 p.Gly17Arg Uncertain significance Single submitter
- USP14 p.Ile174Thr Uncertain significance Single submitter
- USP14 p.Lys316Glu Uncertain significance Single submitter
- USP14 p.Met328Ile Uncertain significance Single submitter
- USP14 p.Phe178Ser Uncertain significance Single submitter
- USP14 p.Phe246Ile Uncertain significance Single submitter
- USP14 p.Ser372Phe Uncertain significance Single submitter
- USP14 p.Thr304Met Uncertain significance Single submitter
- USP14 p.Tyr151Cys Uncertain significance Single submitter
All USP14 variants
Pathogenic 1
- p.Leu78fs Single submitter
Benign 5
- c.943-17A>C Multiple submitters
- p.Ala35= Multiple submitters
- p.Leu358= Multiple submitters
- p.Arg465= Single submitter
- p.Ser431= Single submitter
Likely benign 6
Uncertain significance 46
- c.1036-1G>A Single submitter
- c.1225+4A>G Single submitter
- c.761+6C>T Single submitter
- p.Ala155Gly Single submitter ⚠
- p.Arg124His Single submitter
- p.Arg330Gln Single submitter ⚠
- p.Arg371Ter Single submitter
- p.Arg483Cys Single submitter ⚠
- p.Arg483His Single submitter
- p.Asn280Ser Single submitter ⚠
- p.Asp346Asn Single submitter ⚠
- p.Asp76His Single submitter ⚠
- p.Asp76Val Single submitter ⚠
- p.Gln301Leu Single submitter ⚠
- p.Glu13Asp Single submitter ⚠
- p.Glu264Val Single submitter ⚠
- p.Glu362Gln Single submitter ⚠
- p.Glu94Gly Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Gly17Asp Single submitter ⚠
- p.Gly193Arg Single submitter ⚠
- p.Ile174Thr Single submitter ⚠
- p.Ile279Val Single submitter
- p.Ile410Thr Single submitter ⚠
- p.Lys284Met Single submitter ⚠
- p.Lys316Glu Single submitter ⚠
- p.Lys381Gln Single submitter ⚠
- p.Met27Val Single submitter ⚠
- p.Met328Ile Single submitter ⚠
- p.Met352Thr Single submitter ⚠
- p.Met488Lys Single submitter ⚠
- p.Met67Val Single submitter ⚠
- p.Phe178Ser Single submitter ⚠
- p.Phe246Ile Single submitter ⚠
- p.Ser318Asn Single submitter ⚠
- p.Ser372Phe Single submitter ⚠
- p.Thr226Arg Single submitter ⚠
- p.Thr235Lys Single submitter ⚠
- p.Thr304Met Single submitter ⚠
- p.Trp10Leu Single submitter ⚠
- p.Tyr151Cys Single submitter ⚠
- p.Tyr418Cys Single submitter ⚠
- p.Val368Leu Single submitter ⚠
- p.Val399Ile Single submitter ⚠
- p.Val437Ile Single submitter ⚠
- p.Val46Ile Single submitter ⚠