UBA7 — 168 ClinVar variants
All ClinVar germline UBA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →
4 Benign · 20 Likely benign · 144 Uncertain significance
Full UBA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 141
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 106
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- UBA7 p.Ala180Ser Uncertain significance Single submitter
- UBA7 p.Ala350Thr Uncertain significance Single submitter
- UBA7 p.Ala608Ser Uncertain significance Single submitter
- UBA7 p.Ala766Asp Uncertain significance Single submitter
- UBA7 p.Ala951Thr Uncertain significance Single submitter
- UBA7 p.Arg152Gln Uncertain significance Single submitter
- UBA7 p.Arg152Trp Uncertain significance Single submitter
- UBA7 p.Arg204Cys Uncertain significance Single submitter
- UBA7 p.Arg204His Uncertain significance Single submitter
- UBA7 p.Arg226Trp Uncertain significance Single submitter
- UBA7 p.Arg29Lys Uncertain significance Single submitter
- UBA7 p.Arg306Gln Uncertain significance Single submitter
- UBA7 p.Arg347Gln Uncertain significance Single submitter
- UBA7 p.Arg531Cys Uncertain significance Single submitter
- UBA7 p.Arg602Gln Uncertain significance Single submitter
- UBA7 p.Arg660Thr Uncertain significance Single submitter
- UBA7 p.Arg662His Uncertain significance Single submitter
- UBA7 p.Arg844Gln Uncertain significance Single submitter
- UBA7 p.Arg876Gln Uncertain significance Single submitter
- UBA7 p.Arg876Trp Uncertain significance Single submitter
- UBA7 p.Arg882Cys Uncertain significance Single submitter
- UBA7 p.Arg882His Uncertain significance Single submitter
- UBA7 p.Arg895Cys Uncertain significance Single submitter
- UBA7 p.Arg895His Uncertain significance Single submitter
- UBA7 p.Asn665Lys Uncertain significance Single submitter
- UBA7 p.Asn891Ser Uncertain significance Single submitter
- UBA7 p.Asp222Asn Uncertain significance Single submitter
- UBA7 p.Asp224Asn Uncertain significance Single submitter
- UBA7 p.Asp416His Uncertain significance Single submitter
- UBA7 p.Asp506Glu Uncertain significance Single submitter
- UBA7 p.Asp642Tyr Uncertain significance Single submitter
- UBA7 p.Asp746Asn Uncertain significance Single submitter
- UBA7 p.Asp761Glu Uncertain significance Single submitter
- UBA7 p.Gln279His Uncertain significance Single submitter
- UBA7 p.Gln28His Uncertain significance Single submitter
- UBA7 p.Gln543Arg Uncertain significance Single submitter
- UBA7 p.Gln634His Uncertain significance Single submitter
- UBA7 p.Gln923Lys Uncertain significance Single submitter
- UBA7 p.Glu131Lys Uncertain significance Single submitter
- UBA7 p.Glu628Asp Uncertain significance Single submitter
- UBA7 p.Glu789Gly Uncertain significance Single submitter
- UBA7 p.Glu890Lys Uncertain significance Single submitter
- UBA7 p.Glu929Lys Uncertain significance Single submitter
- UBA7 p.Glu93Ala Uncertain significance Single submitter
- UBA7 p.Gly136Asp Uncertain significance Single submitter
- UBA7 p.Gly153Asp Uncertain significance Single submitter
- UBA7 p.Gly423Arg Uncertain significance Single submitter
- UBA7 p.Gly457Glu Uncertain significance Single submitter
- UBA7 p.Gly525Arg Uncertain significance Single submitter
- UBA7 p.Gly525Glu Uncertain significance Single submitter
- UBA7 p.Gly534Asp Uncertain significance Single submitter
- UBA7 p.Gly833Arg Uncertain significance Single submitter
- UBA7 p.Gly862Asp Uncertain significance Single submitter
- UBA7 p.Gly940Arg Uncertain significance Single submitter
- UBA7 p.His285Tyr Uncertain significance Single submitter
- UBA7 p.His471Tyr Uncertain significance Single submitter
- UBA7 p.Ile768Val Uncertain significance Single submitter
- UBA7 p.Ile849Val Uncertain significance Single submitter
- UBA7 p.Leu395Ile Uncertain significance Single submitter
- UBA7 p.Leu456Met Uncertain significance Single submitter
- UBA7 p.Leu625Pro Uncertain significance Single submitter
- UBA7 p.Leu651Phe Uncertain significance Single submitter
- UBA7 p.Leu656Ile Uncertain significance Single submitter
- UBA7 p.Leu734Val Uncertain significance Single submitter
- UBA7 p.Leu863Val Uncertain significance Single submitter
- UBA7 p.Leu886Val Uncertain significance Single submitter
- UBA7 p.Lys196Glu Uncertain significance Single submitter
- UBA7 p.Lys260Glu Uncertain significance Single submitter
- UBA7 p.Lys449Asn Uncertain significance Single submitter
- UBA7 p.Lys686Glu Uncertain significance Single submitter
- UBA7 p.Met27Val Uncertain significance Single submitter
- UBA7 p.Met360Val Uncertain significance Single submitter
- UBA7 p.Phe681Val Uncertain significance Single submitter
- UBA7 p.Phe704Ser Uncertain significance Single submitter
- UBA7 p.Pro25Arg Uncertain significance Single submitter
- UBA7 p.Pro308Ala Uncertain significance Single submitter
- UBA7 p.Pro515Arg Uncertain significance Single submitter
- UBA7 p.Pro64Ser Uncertain significance Single submitter
- UBA7 p.Pro64Thr Uncertain significance Single submitter
- UBA7 p.Pro66Ser Uncertain significance Single submitter
- UBA7 p.Pro784Ser Uncertain significance Single submitter
- UBA7 p.Pro784Thr Uncertain significance Single submitter
- UBA7 p.Pro836Leu Uncertain significance Single submitter
- UBA7 p.Pro877Ser Uncertain significance Single submitter
- UBA7 p.Pro960Ser Uncertain significance Single submitter
- UBA7 p.Ser280Gly Uncertain significance Single submitter
- UBA7 p.Ser461Asn Uncertain significance Single submitter
- UBA7 p.Ser478Gly Uncertain significance Single submitter
- UBA7 p.Ser70Pro Uncertain significance Single submitter
- UBA7 p.Ser744Thr Uncertain significance Single submitter
- UBA7 p.Ser777Leu Uncertain significance Single submitter
- UBA7 p.Thr108Met Uncertain significance Single submitter
- UBA7 p.Thr178Arg Uncertain significance Single submitter
- UBA7 p.Thr318Ser Uncertain significance Single submitter
- UBA7 p.Thr553Ile Uncertain significance Single submitter
- UBA7 p.Thr638Ile Uncertain significance Single submitter
- UBA7 p.Thr857Ile Uncertain significance Single submitter
- UBA7 p.Tyr524Cys Uncertain significance Single submitter
- UBA7 p.Tyr735Cys Uncertain significance Single submitter
- UBA7 p.Val105Ile Uncertain significance Single submitter
- UBA7 p.Val346Ala Uncertain significance Single submitter
- UBA7 p.Val372Ala Uncertain significance Single submitter
- UBA7 p.Val532Met Uncertain significance Single submitter
- UBA7 p.Val548Leu Uncertain significance Single submitter
- UBA7 p.Val601Met Uncertain significance Single submitter
- UBA7 p.Val655Ala Uncertain significance Single submitter
Predictors split 35
The independent predictors disagree with each other — read with care.
- UBA7 p.Ala608Asp Uncertain significance Single submitter
- UBA7 p.Ala823Val Uncertain significance Single submitter
- UBA7 p.Arg226Gly Uncertain significance Single submitter
- UBA7 p.Arg231Pro Uncertain significance Single submitter
- UBA7 p.Arg246Trp Uncertain significance Single submitter
- UBA7 p.Arg306Trp Uncertain significance Single submitter
- UBA7 p.Arg474His Uncertain significance Single submitter
- UBA7 p.Arg551His Uncertain significance Single submitter
- UBA7 p.Arg839Cys Uncertain significance Single submitter
- UBA7 p.Arg839His Uncertain significance Single submitter
- UBA7 p.Arg988Trp Uncertain significance Single submitter
- UBA7 p.Asp233Gly Uncertain significance Single submitter
- UBA7 p.Cys160Gly Uncertain significance Single submitter
- UBA7 p.Glu609Lys Uncertain significance Single submitter
- UBA7 p.Gly109Ala Uncertain significance Single submitter
- UBA7 p.Gly190Asp Uncertain significance Single submitter
- UBA7 p.Gly459Arg Likely benign Single submitter
- UBA7 p.Ile472Met Uncertain significance Single submitter
- UBA7 p.Leu698Ile Uncertain significance Single submitter
- UBA7 p.Leu725Phe Uncertain significance Single submitter
- UBA7 p.Pro225Ser Uncertain significance Single submitter
- UBA7 p.Pro308Leu Uncertain significance Single submitter
- UBA7 p.Pro558Ala Uncertain significance Single submitter
- UBA7 p.Thr465Pro Uncertain significance Single submitter
- UBA7 p.Tyr555Cys Uncertain significance Single submitter
- UBA7 p.Tyr954Cys Uncertain significance Single submitter
- UBA7 p.Val230Met Uncertain significance Single submitter
- UBA7 p.Val47Met Uncertain significance Single submitter
- UBA7 p.Val488Phe Uncertain significance Single submitter
- UBA7 p.Val532Ala Uncertain significance Single submitter
- UBA7 p.Val822Ile Uncertain significance Single submitter
- UBA7 p.Val989Met Uncertain significance Single submitter
-
UBA7 p.Arg414His
Likely benign
No assertion criteria
UBA7-related disorder
-
UBA7 p.Arg839Pro
Benign
No assertion criteria
UBA7-related disorder
-
UBA7 p.Val509Met
Likely benign
No assertion criteria
UBA7-related disorder
All UBA7 variants
Benign 4
- p.His817Arg Multiple submitters
- p.Leu741= Single submitter
- p.Ala88= No assertion criteria UBA7-related disorder
- p.Arg839Pro No assertion criteria UBA7-related disorder ⚠
Likely benign 20
- p.Ala148= Single submitter
- p.Ala148Val Single submitter
- p.Arg226Gln Single submitter
- p.Arg432His Single submitter
- p.Arg501Gln Single submitter
- p.Arg546His Single submitter
- p.Arg878Cys Single submitter
- p.Gly459Arg Single submitter ⚠
- p.His275Arg Single submitter
- p.Pro595Ser Single submitter
- p.Ser404Asn Single submitter
- p.Ser565Leu Single submitter
- p.Ser950Pro Single submitter
- c.2910-9C>T No assertion criteria UBA7-related disorder
- p.Ala391= No assertion criteria UBA7-related disorder
- p.Arg414His No assertion criteria UBA7-related disorder ⚠
- p.Leu512= No assertion criteria UBA7-related disorder
- p.Thr151= No assertion criteria UBA7-related disorder
- p.Val438= No assertion criteria UBA7-related disorder
- p.Val509Met No assertion criteria UBA7-related disorder ⚠
Uncertain significance 144
- c.1904+3A>G Single submitter intellectual disability
- p.Ala180Ser Single submitter ⚠
- p.Ala350Thr Single submitter ⚠
- p.Ala608Asp Single submitter ⚠
- p.Ala608Ser Single submitter ⚠
- p.Ala766Asp Single submitter ⚠
- p.Ala823Val Single submitter ⚠
- p.Ala951Thr Single submitter ⚠
- p.Arg152Gln Single submitter ⚠
- p.Arg152Trp Single submitter ⚠
- p.Arg204Cys Single submitter ⚠
- p.Arg204His Single submitter ⚠
- p.Arg226Gly Single submitter ⚠
- p.Arg226Trp Single submitter ⚠
- p.Arg231Pro Single submitter ⚠
- p.Arg246Trp Single submitter ⚠
- p.Arg29Lys Single submitter ⚠
- p.Arg306Gln Single submitter ⚠
- p.Arg306Trp Single submitter ⚠
- p.Arg347Gln Single submitter ⚠
- p.Arg474His Single submitter ⚠
- p.Arg531Cys Single submitter ⚠
- p.Arg551His Single submitter ⚠
- p.Arg602Gln Single submitter ⚠
- p.Arg660Thr Single submitter ⚠
- p.Arg662His Single submitter ⚠
- p.Arg828Lys Single submitter
- p.Arg839Cys Single submitter ⚠
- p.Arg839His Single submitter ⚠
- p.Arg844Gln Single submitter ⚠
- p.Arg876Gln Single submitter ⚠
- p.Arg876Trp Single submitter ⚠
- p.Arg882Cys Single submitter ⚠
- p.Arg882His Single submitter ⚠
- p.Arg895Cys Single submitter ⚠
- p.Arg895His Single submitter ⚠
- p.Arg988Trp Single submitter ⚠
- p.Asn665Lys Single submitter ⚠
- p.Asn891Ser Single submitter ⚠
- p.Asp222Asn Single submitter ⚠
- p.Asp224Asn Single submitter ⚠
- p.Asp233Gly Single submitter ⚠
- p.Asp416His Single submitter ⚠
- p.Asp506Glu Single submitter ⚠
- p.Asp642Tyr Single submitter ⚠
- p.Asp746Asn Single submitter ⚠
- p.Asp761Glu Single submitter ⚠
- p.Cys160Gly Single submitter ⚠
- p.Gln279His Single submitter ⚠
- p.Gln28His Single submitter ⚠
- p.Gln433Ter Single submitter UBA7-related disorder
- p.Gln543Arg Single submitter ⚠
- p.Gln634His Single submitter ⚠
- p.Gln923Lys Single submitter ⚠
- p.Glu131Lys Single submitter ⚠
- p.Glu609Lys Single submitter ⚠
- p.Glu628Asp Single submitter ⚠
- p.Glu789Gly Single submitter ⚠
- p.Glu890Lys Single submitter ⚠
- p.Glu929Lys Single submitter ⚠
- p.Glu93Ala Single submitter ⚠
- p.Gly109Ala Single submitter ⚠
- p.Gly136Asp Single submitter ⚠
- p.Gly153Asp Single submitter ⚠
- p.Gly190Asp Single submitter ⚠
- p.Gly423Arg Single submitter ⚠
- p.Gly457Glu Single submitter ⚠
- p.Gly525Arg Single submitter ⚠
- p.Gly525Glu Single submitter ⚠
- p.Gly534Asp Single submitter ⚠
- p.Gly833Arg Single submitter ⚠
- p.Gly862Asp Single submitter ⚠
- p.Gly940Arg Single submitter ⚠
- p.His285Tyr Single submitter ⚠
- p.His471Tyr Single submitter ⚠
- p.Ile472Met Single submitter ⚠
- p.Ile768Val Single submitter ⚠
- p.Ile849Val Single submitter ⚠
- p.Leu395Ile Single submitter ⚠
- p.Leu456Met Single submitter ⚠
- p.Leu625Pro Single submitter ⚠
- p.Leu651Phe Single submitter ⚠
- p.Leu656Ile Single submitter ⚠
- p.Leu698Ile Single submitter ⚠
- p.Leu725Phe Single submitter ⚠
- p.Leu734Val Single submitter ⚠
- p.Leu863Val Single submitter ⚠
- p.Leu886Val Single submitter ⚠
- p.Lys196Glu Single submitter ⚠
- p.Lys260Glu Single submitter ⚠
- p.Lys449Asn Single submitter ⚠
- p.Lys686Glu Single submitter ⚠
- p.Lys709fs Single submitter
- p.Met27Val Single submitter ⚠
- p.Met360Val Single submitter ⚠
- p.Phe681Val Single submitter ⚠
- p.Phe704Ser Single submitter ⚠
- p.Pro225Ser Single submitter ⚠
- p.Pro25Arg Single submitter ⚠
- p.Pro308Ala Single submitter ⚠
- p.Pro308Leu Single submitter ⚠
- p.Pro515Arg Single submitter ⚠
- p.Pro558Ala Single submitter ⚠
- p.Pro64Ser Single submitter ⚠
- p.Pro64Thr Single submitter ⚠
- p.Pro663Leu Single submitter
- p.Pro66Ser Single submitter ⚠
- p.Pro784Ser Single submitter ⚠
- p.Pro784Thr Single submitter ⚠
- p.Pro836Leu Single submitter ⚠
- p.Pro877Ser Single submitter ⚠
- p.Pro960Ser Single submitter ⚠
- p.Ser280Gly Single submitter ⚠
- p.Ser461Asn Single submitter ⚠
- p.Ser478Gly Single submitter ⚠
- p.Ser70Pro Single submitter ⚠
- p.Ser744Thr Single submitter ⚠
- p.Ser777Leu Single submitter ⚠
- p.Thr108Met Single submitter ⚠
- p.Thr178Arg Single submitter ⚠
- p.Thr318Ser Single submitter ⚠
- p.Thr465Pro Single submitter ⚠
- p.Thr520Pro Single submitter
- p.Thr553Ile Single submitter ⚠
- p.Thr638Ile Single submitter ⚠
- p.Thr857Ile Single submitter ⚠
- p.Trp311Ter Single submitter
- p.Tyr524Cys Single submitter ⚠
- p.Tyr555Cys Single submitter ⚠
- p.Tyr735Cys Single submitter ⚠
- p.Tyr954Cys Single submitter ⚠
- p.Val105Ile Single submitter ⚠
- p.Val230Met Single submitter ⚠
- p.Val346Ala Single submitter ⚠
- p.Val372Ala Single submitter ⚠
- p.Val47Met Single submitter ⚠
- p.Val488Phe Single submitter ⚠
- p.Val532Ala Single submitter ⚠
- p.Val532Met Single submitter ⚠
- p.Val548Leu Single submitter ⚠
- p.Val601Met Single submitter ⚠
- p.Val655Ala Single submitter ⚠
- p.Val822Ile Single submitter ⚠
- p.Val989Met Single submitter ⚠