TPSB2 — 48 ClinVar variants
All ClinVar germline TPSB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Conflicting · 2 Benign · 9 Likely benign · 36 Uncertain significance
Full TPSB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll TPSB2 variants
Conflicting classifications of pathogenicity 1
- p.Arg87Ser Single submitter
Benign 2
- p.Gly23Val Multiple submitters
- p.Val76Leu Multiple submitters
Likely benign 9
- p.Ala13Val Single submitter
- p.Ala239Val Single submitter
- p.Ala85= Single submitter
- p.Arg28= Single submitter
- p.Asp52Gly Single submitter
- p.Gln24= Single submitter
- p.Glu126Gln Single submitter
- p.Gly222= Single submitter
- p.Val133Ile Single submitter
Uncertain significance 36
- p.Ala120Val Single submitter
- p.Ala123Thr Single submitter
- p.Ala16Ser Single submitter
- p.Ala21Val Single submitter
- p.Ala25Thr Single submitter
- p.Ala72Pro Single submitter
- p.Ala73Val Single submitter
- p.Ala8Glu Single submitter
- p.Arg15Cys Single submitter
- p.Arg28Gly Single submitter
- p.Arg51Cys Single submitter
- p.Arg51Gly Single submitter
- p.Asn252Thr Single submitter
- p.Cys75Trp Single submitter
- p.Gln117Leu Single submitter
- p.Gln98Arg Single submitter
- p.Glu36Gln Single submitter
- p.Gly23Ala Single submitter
- p.Gly240Ser Single submitter
- p.Gly60Trp Single submitter
- p.Gly77Glu Single submitter
- p.Leu83Val Single submitter
- p.Lys81Arg Single submitter
- p.Phe149Leu Single submitter
- p.Phe58Ile Single submitter
- p.Pro103Arg Single submitter
- p.Pro103Leu Single submitter
- p.Pro22Thr Single submitter
- p.Pro272Ala Single submitter
- p.Ser105Gly Single submitter
- p.Ser14Asn Single submitter
- p.Trp44Arg Single submitter
- p.Val109Met Single submitter
- p.Val11Ile Single submitter
- p.Val137Ala Single submitter
- p.Val32Asp Single submitter