TPSAB1 — 141 ClinVar variants
All ClinVar germline TPSAB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
3 Conflicting · 23 Benign · 11 Benign/Likely benign · 52 Likely benign · 52 Uncertain significance
Full TPSAB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TPSAB1 p.Ala13Glu Uncertain significance Single submitter
- TPSAB1 p.Ala196Pro Uncertain significance Single submitter
- TPSAB1 p.Ala72Ser Uncertain significance Single submitter
- TPSAB1 p.Ala72Thr Uncertain significance Single submitter
- TPSAB1 p.Arg168His Uncertain significance Single submitter
- TPSAB1 p.Arg259Cys Uncertain significance Single submitter
- TPSAB1 p.Arg49Thr Uncertain significance Single submitter
- TPSAB1 p.Arg91Gln Uncertain significance Single submitter
- TPSAB1 p.Arg91Trp Uncertain significance Single submitter
- TPSAB1 p.Cys248Tyr Uncertain significance Single submitter
- TPSAB1 p.Gln27Arg Uncertain significance Single submitter
- TPSAB1 p.Gly119Arg Uncertain significance Single submitter
- TPSAB1 p.Gly119Glu Uncertain significance Single submitter
- TPSAB1 p.Gly152Glu Uncertain significance Single submitter
- TPSAB1 p.Gly199Glu Uncertain significance Single submitter
- TPSAB1 p.Gly225Arg Uncertain significance Single submitter
- TPSAB1 p.Gly33Glu Uncertain significance Single submitter
- TPSAB1 p.His110Arg Uncertain significance Single submitter
- TPSAB1 p.His268Gln Uncertain significance Single submitter
- TPSAB1 p.His57Tyr Uncertain significance Single submitter
- TPSAB1 p.Leu26Pro Uncertain significance Single submitter
- TPSAB1 p.Leu2Gln Uncertain significance Single submitter
- TPSAB1 p.Leu95Pro Uncertain significance Single submitter
- TPSAB1 p.Pro103Arg Uncertain significance Single submitter
- TPSAB1 p.Pro103Leu Uncertain significance Single submitter
- TPSAB1 p.Pro151Leu Uncertain significance Single submitter
- TPSAB1 p.Pro171Leu Uncertain significance Single submitter
- TPSAB1 p.Pro20Ser Uncertain significance Single submitter
- TPSAB1 p.Pro66Ser Uncertain significance Single submitter
- TPSAB1 p.Pro66Thr Uncertain significance Single submitter
- TPSAB1 p.Pro78Ser Uncertain significance Single submitter
- TPSAB1 p.Ser135Asn Uncertain significance Single submitter
- TPSAB1 p.Ser146Ala Uncertain significance Single submitter
- TPSAB1 p.Ser146Thr Uncertain significance Single submitter
- TPSAB1 p.Thr148Ala Uncertain significance Single submitter
- TPSAB1 p.Thr258Asn Uncertain significance Single submitter
- TPSAB1 p.Trp160Ser Uncertain significance Single submitter
- TPSAB1 p.Tyr197Asp Uncertain significance Single submitter
- TPSAB1 p.Tyr97His Uncertain significance Single submitter
- TPSAB1 p.Val32Asp Uncertain significance Single submitter
- TPSAB1 p.Val80Phe Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- TPSAB1 p.Gln221Lys Benign/Likely benign Multiple submitters
- TPSAB1 p.Asn252Lys Likely benign Single submitter
- TPSAB1 p.Asp82Tyr Uncertain significance Single submitter
- TPSAB1 p.Gly77Glu Uncertain significance Single submitter
- TPSAB1 p.Phe149Leu Uncertain significance Single submitter
- TPSAB1 p.Pro130Leu Uncertain significance Single submitter
- TPSAB1 p.Thr158Ala Uncertain significance Single submitter
- TPSAB1 p.Val32Phe Uncertain significance Single submitter
All TPSAB1 variants
Conflicting classifications of pathogenicity 3
- p.Ala116Thr Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Thr115Ile Single submitter ⚠
Benign 23
- c.1-105C>A Multiple submitters
- c.233+12G>A Multiple submitters
- c.233+30G>C Multiple submitters
- c.61+75T>C Multiple submitters
- c.62-27C>T Multiple submitters
- c.62-40C>G Multiple submitters
- c.663+12C>G Multiple submitters
- c.663+21G>C Multiple submitters
- c.663+28G>C Multiple submitters
- c.663+30C>A Multiple submitters
- c.663+35A>C Multiple submitters
- c.663+37C>T Multiple submitters
- c.664-26C>T Multiple submitters
- c.664-35C>T Multiple submitters
- c.664-38A>G Multiple submitters
- c.*13T>G Multiple submitters
- c.*16G>T Multiple submitters
- p.Arg28Gln Multiple submitters
- p.Asn132Lys Multiple submitters
- p.Asp162Asn Multiple submitters
- p.His51= Multiple submitters
- p.Thr141Ala Multiple submitters
- c.664-38A>C Single submitter
Benign/Likely benign 11
- p.Ala72= Multiple submitters
- p.Ala85Thr Multiple submitters
- p.Arg168Pro Multiple submitters
- p.Arg216Gln Multiple submitters
- p.Gln221Lys Multiple submitters ⚠
- p.Gly245Asp Multiple submitters
- p.Leu237= Multiple submitters
- p.Ser219= Multiple submitters
- p.Ser224= Multiple submitters
- p.Thr215Ser Multiple submitters
- p.Val76Leu Multiple submitters
Likely benign 52
- p.Ile118Thr Multiple submitters
- c.1-8C>T Single submitter
- c.233+20G>A Single submitter
- c.62-19G>T Single submitter
- c.663+14_663+15insGGGGCC Single submitter
- c.663+15_663+16insGCCCCCCCCCCCC Single submitter
- c.663+15_663+16insGCCCCCCCCCCCCCC Single submitter
- c.663+15_663+16insGCCCCCCCCCCCCCCC Single submitter
- c.663+15_663+16insGCCCCCCCCCCCCCCCC Single submitter
- c.663+15_663+16insGCCCCCCCCCCCCCCCCC Single submitter
- c.663+15_663+16insGCCCCCCCCCCCCCCCCCCCAAC Single submitter
- c.663+15_663+16insGCCCCCCCCCCCCCCCCCCCCC Single submitter
- c.663+15_663+16insGCCCCCCCCCCCCCCCCCCCCCC Single submitter
- c.663+15_663+16insGCCCCCCCCCCCCCCCCCCCCCCC Single submitter
- c.663+15_663+16insGCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC Single submitter
- c.663+15_663+16insGGGCC Single submitter
- c.663+15_663+16insGGGG Single submitter
- c.663+16C>G Single submitter
- p.Ala116Val Single submitter
- p.Ala13= Single submitter
- p.Ala16Val Single submitter
- p.Ala8= Single submitter
- p.Arg28= Single submitter
- p.Asn252Lys Single submitter ⚠
- p.Asn3= Single submitter
- p.Asn3Ser Single submitter
- p.Asp121= Single submitter
- p.Cys59= Single submitter
- p.Gln112= Single submitter
- p.Glu128= Single submitter
- p.Gly119= Single submitter
- p.Gly222= Single submitter
- p.Gly30= Single submitter
- p.His136Arg Single submitter
- p.His51Arg Single submitter
- p.Ile118= Single submitter
- p.Leu70= Single submitter
- p.Met153Thr Single submitter
- p.Met183Val Single submitter
- p.Phe149= Single submitter
- p.Pro10= Single submitter
- p.Pro103= Single submitter
- p.Pro111= Single submitter
- p.Pro172= Single submitter
- p.Pro174= Single submitter
- p.Pro275= Single submitter
- p.Ser146= Single submitter
- p.Thr141= Single submitter
- p.Thr141Ile Single submitter
- p.Val133Ile Single submitter
- p.Val205Ile Single submitter
- p.Val29Ala Single submitter
Uncertain significance 52
- p.Val76Met Multiple submitters
- p.Ala13Glu Single submitter ⚠
- p.Ala196Pro Single submitter ⚠
- p.Ala37Thr Single submitter
- p.Ala72Ser Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Arg168His Single submitter ⚠
- p.Arg259Cys Single submitter ⚠
- p.Arg49Thr Single submitter ⚠
- p.Arg91Gln Single submitter ⚠
- p.Arg91Trp Single submitter ⚠
- p.Asp82Tyr Single submitter ⚠
- p.Cys248Tyr Single submitter ⚠
- p.Gln27Arg Single submitter ⚠
- p.Gly119Arg Single submitter ⚠
- p.Gly119Glu Single submitter ⚠
- p.Gly152Glu Single submitter ⚠
- p.Gly199Glu Single submitter ⚠
- p.Gly225Arg Single submitter ⚠
- p.Gly33Glu Single submitter ⚠
- p.Gly77Glu Single submitter ⚠
- p.His110Arg Single submitter ⚠
- p.His268Gln Single submitter ⚠
- p.His57Tyr Single submitter ⚠
- p.Leu26Pro Single submitter ⚠
- p.Leu2Gln Single submitter ⚠
- p.Leu95Pro Single submitter ⚠
- p.Phe149Leu Single submitter ⚠
- p.Pro103Arg Single submitter ⚠
- p.Pro103Leu Single submitter ⚠
- p.Pro130Leu Single submitter ⚠
- p.Pro151Leu Single submitter ⚠
- p.Pro171Leu Single submitter ⚠
- p.Pro172Arg Single submitter
- p.Pro181Ser Single submitter
- p.Pro20Ser Single submitter ⚠
- p.Pro66Ser Single submitter ⚠
- p.Pro66Thr Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Ser134Phe Single submitter
- p.Ser135Asn Single submitter ⚠
- p.Ser146Ala Single submitter ⚠
- p.Ser146Thr Single submitter ⚠
- p.Thr148Ala Single submitter ⚠
- p.Thr158Ala Single submitter ⚠
- p.Thr258Asn Single submitter ⚠
- p.Trp160Ser Single submitter ⚠
- p.Tyr197Asp Single submitter ⚠
- p.Tyr97His Single submitter ⚠
- p.Val32Asp Single submitter ⚠
- p.Val32Phe Single submitter ⚠
- p.Val80Phe Single submitter ⚠