USP30 — 67 ClinVar variants
All ClinVar germline USP30 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
1 Benign · 1 Likely benign · 65 Uncertain significance
Full USP30 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- USP30 p.Ala12Val Uncertain significance Single submitter
- USP30 p.Ala25Glu Uncertain significance Single submitter
- USP30 p.Ala25Thr Uncertain significance Single submitter
- USP30 p.Ala396Asp Uncertain significance Single submitter
- USP30 p.Ala417Val Uncertain significance Single submitter
- USP30 p.Ala494Thr Uncertain significance Single submitter
- USP30 p.Ala6Thr Uncertain significance Single submitter
- USP30 p.Arg105Gly Uncertain significance Single submitter
- USP30 p.Arg179Cys Uncertain significance Single submitter
- USP30 p.Arg206Cys Uncertain significance Single submitter
- USP30 p.Arg327Gln Uncertain significance Single submitter
- USP30 p.Arg457Gln Uncertain significance Single submitter
- USP30 p.Arg59Gly Uncertain significance Single submitter
- USP30 p.Arg5Gln Uncertain significance Single submitter
- USP30 p.Arg62His Uncertain significance Single submitter
- USP30 p.Asn346Asp Uncertain significance Single submitter
- USP30 p.Asn346Ser Uncertain significance Single submitter
- USP30 p.Asp139Asn Uncertain significance Single submitter
- USP30 p.Asp428Asn Uncertain significance Single submitter
- USP30 p.Cys142Phe Uncertain significance Single submitter
- USP30 p.Gln114Pro Uncertain significance Single submitter
- USP30 p.Gln240Arg Uncertain significance Single submitter
- USP30 p.Gln487Glu Uncertain significance Single submitter
- USP30 p.Glu136Gln Uncertain significance Single submitter
- USP30 p.Glu291Lys Uncertain significance Single submitter
- USP30 p.Glu488Asp Uncertain significance Single submitter
- USP30 p.Glu500Lys Uncertain significance Single submitter
- USP30 p.Glu512Lys Uncertain significance Single submitter
- USP30 p.Gly383Glu Uncertain significance Single submitter
- USP30 p.Gly74Arg Uncertain significance Single submitter
- USP30 p.His236Leu Uncertain significance Single submitter
- USP30 p.His333Arg Uncertain significance Single submitter
- USP30 p.Ile274Leu Uncertain significance Single submitter
- USP30 p.Leu358Phe Uncertain significance Single submitter
- USP30 p.Leu467Val Uncertain significance Single submitter
- USP30 p.Met10Ile Uncertain significance Single submitter
- USP30 p.Pro384Leu Uncertain significance Single submitter
- USP30 p.Pro397Ser Uncertain significance Single submitter
- USP30 p.Pro418Leu Uncertain significance Single submitter
- USP30 p.Pro422Leu Uncertain significance Single submitter
- USP30 p.Pro90Ser Uncertain significance Single submitter
- USP30 p.Ser332Arg Uncertain significance Single submitter
- USP30 p.Ser430Gly Uncertain significance Single submitter
- USP30 p.Ser492Phe Uncertain significance Single submitter
- USP30 p.Thr204Ile Uncertain significance Single submitter
- USP30 p.Thr207Lys Uncertain significance Single submitter
- USP30 p.Thr335Met Uncertain significance Single submitter
- USP30 p.Thr414Ala Uncertain significance Single submitter
- USP30 p.Thr414Met Uncertain significance Single submitter
- USP30 p.Tyr103Phe Uncertain significance Single submitter
- USP30 p.Val137Phe Uncertain significance Single submitter
- USP30 p.Val443Ile Uncertain significance Single submitter
- USP30 p.Val502Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- USP30 p.Arg19Pro Uncertain significance Single submitter
- USP30 p.Glu500Gln Uncertain significance Single submitter
- USP30 p.Gly298Val Uncertain significance Single submitter
- USP30 p.Gly65Glu Uncertain significance Single submitter
- USP30 p.His167Leu Uncertain significance Single submitter
- USP30 p.Lys355Met Uncertain significance Single submitter
- USP30 p.Met232Val Uncertain significance Single submitter
- USP30 p.Pro242Leu Uncertain significance Single submitter
- USP30 p.Pro336Leu Uncertain significance Single submitter
- USP30 p.Ser450Tyr Uncertain significance Single submitter
All USP30 variants
Benign 1
- p.Ala126= Single submitter
Likely benign 1
- p.Pro389Ser Single submitter
Uncertain significance 65
- p.Ala12Val Single submitter ⚠
- p.Ala25Glu Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala396Asp Single submitter ⚠
- p.Ala417Val Single submitter ⚠
- p.Ala494Thr Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Arg105Gly Single submitter ⚠
- p.Arg179Cys Single submitter ⚠
- p.Arg19Pro Single submitter ⚠
- p.Arg206Cys Single submitter ⚠
- p.Arg327Gln Single submitter ⚠
- p.Arg457Gln Single submitter ⚠
- p.Arg59Gly Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Arg62His Single submitter ⚠
- p.Asn346Asp Single submitter ⚠
- p.Asn346Ser Single submitter ⚠
- p.Asp139Asn Single submitter ⚠
- p.Asp428Asn Single submitter ⚠
- p.Cys142Phe Single submitter ⚠
- p.Cys322fs Single submitter
- p.Gln114Pro Single submitter ⚠
- p.Gln240Arg Single submitter ⚠
- p.Gln487Glu Single submitter ⚠
- p.Glu136Gln Single submitter ⚠
- p.Glu291Lys Single submitter ⚠
- p.Glu488Asp Single submitter ⚠
- p.Glu500Gln Single submitter ⚠
- p.Glu500Lys Single submitter ⚠
- p.Glu512Lys Single submitter ⚠
- p.Gly298Val Single submitter ⚠
- p.Gly383Glu Single submitter ⚠
- p.Gly65Glu Single submitter ⚠
- p.Gly74Arg Single submitter ⚠
- p.His167Leu Single submitter ⚠
- p.His236Leu Single submitter ⚠
- p.His333Arg Single submitter ⚠
- p.Ile274Leu Single submitter ⚠
- p.Leu358Phe Single submitter ⚠
- p.Leu467Val Single submitter ⚠
- p.Lys355Met Single submitter ⚠
- p.Met10Ile Single submitter ⚠
- p.Met232Val Single submitter ⚠
- p.Pro242Leu Single submitter ⚠
- p.Pro336Leu Single submitter ⚠
- p.Pro384Leu Single submitter ⚠
- p.Pro397Ser Single submitter ⚠
- p.Pro418Leu Single submitter ⚠
- p.Pro422Leu Single submitter ⚠
- p.Pro90Ser Single submitter ⚠
- p.Ser332Arg Single submitter ⚠
- p.Ser430Gly Single submitter ⚠
- p.Ser450Ala Single submitter
- p.Ser450Tyr Single submitter ⚠
- p.Ser492Phe Single submitter ⚠
- p.Thr204Ile Single submitter ⚠
- p.Thr207Lys Single submitter ⚠
- p.Thr335Met Single submitter ⚠
- p.Thr414Ala Single submitter ⚠
- p.Thr414Met Single submitter ⚠
- p.Tyr103Phe Single submitter ⚠
- p.Val137Phe Single submitter ⚠
- p.Val443Ile Single submitter ⚠
- p.Val502Ile Single submitter ⚠