TPSD1 — 72 ClinVar variants
All ClinVar germline TPSD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
2 Benign · 5 Likely benign · 65 Uncertain significance
Full TPSD1 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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TPSD1 p.Ala15Val Uncertain significance Single submitter
- TPSD1 p.Ala197Thr Uncertain significance Single submitter
- TPSD1 p.Ala20Thr Uncertain significance Single submitter
- TPSD1 p.Ala5Gly Uncertain significance Single submitter
- TPSD1 p.Ala5Val Uncertain significance Single submitter
- TPSD1 p.Ala79Gly Uncertain significance Single submitter
- TPSD1 p.Ala79Thr Uncertain significance Single submitter
- TPSD1 p.Ala79Val Uncertain significance Single submitter
- TPSD1 p.Ala80Val Uncertain significance Single submitter
- TPSD1 p.Arg213His Uncertain significance Single submitter
-
TPSD1 p.Arg94Ser
Uncertain significance
Single submitter
bladder exstrophy-epispadias-cloacal exstrophy complex
- TPSD1 p.Arg98Gln Uncertain significance Single submitter
- TPSD1 p.Asp169Asn Uncertain significance Single submitter
- TPSD1 p.Asp171Gly Uncertain significance Single submitter
- TPSD1 p.Asp214Asn Uncertain significance Single submitter
- TPSD1 p.Cys162Arg Uncertain significance Single submitter
- TPSD1 p.Cys82Phe Uncertain significance Single submitter
- TPSD1 p.Cys82Ser Uncertain significance Single submitter
- TPSD1 p.Gln100Lys Uncertain significance Single submitter
- TPSD1 p.Gln107Pro Uncertain significance Single submitter
- TPSD1 p.Gln119Glu Uncertain significance Single submitter
- TPSD1 p.Gln124Arg Uncertain significance Single submitter
- TPSD1 p.Gln74Pro Uncertain significance Single submitter
- TPSD1 p.Glu184Val Uncertain significance Single submitter
- TPSD1 p.Glu222Lys Uncertain significance Single submitter
- TPSD1 p.Gly126Arg Uncertain significance Single submitter
- TPSD1 p.Gly166Ser Uncertain significance Single submitter
- TPSD1 p.Gly168Ala Uncertain significance Single submitter
- TPSD1 p.Gly202Ser Uncertain significance Single submitter
- TPSD1 p.Gly30Cys Uncertain significance Single submitter
- TPSD1 p.Gly40Trp Uncertain significance Single submitter
- TPSD1 p.Gly59Ser Uncertain significance Single submitter
- TPSD1 p.Gly67Arg Uncertain significance Single submitter
- TPSD1 p.His101Tyr Uncertain significance Single submitter
- TPSD1 p.His175Tyr Uncertain significance Single submitter
- TPSD1 p.His64Asn Uncertain significance Single submitter
- TPSD1 p.Ile140Met Uncertain significance Single submitter
- TPSD1 p.Ile71Asn Uncertain significance Single submitter
- TPSD1 p.Leu134Pro Uncertain significance Single submitter
- TPSD1 p.Met63Ile Uncertain significance Single submitter
- TPSD1 p.Pro110Leu Uncertain significance Single submitter
- TPSD1 p.Pro158Leu Uncertain significance Single submitter
- TPSD1 p.Pro177Leu Uncertain significance Single submitter
- TPSD1 p.Pro181Leu Uncertain significance Single submitter
- TPSD1 p.Ser10Asn Uncertain significance Single submitter
- TPSD1 p.Ser141Thr Uncertain significance Single submitter
- TPSD1 p.Ser69Phe Uncertain significance Single submitter
- TPSD1 p.Thr146Met Uncertain significance Single submitter
- TPSD1 p.Thr148Ala Uncertain significance Single submitter
- TPSD1 p.Thr148Lys Uncertain significance Single submitter
- TPSD1 p.Thr36Met Uncertain significance Single submitter
- TPSD1 p.Val116Met Uncertain significance Single submitter
- TPSD1 p.Val138Ala Uncertain significance Single submitter
- TPSD1 p.Val170Glu Uncertain significance Single submitter
- TPSD1 p.Val170Met Uncertain significance Single submitter
- TPSD1 p.Val18Ile Uncertain significance Single submitter
- TPSD1 p.Val212Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- TPSD1 p.Gly229Ser Benign Multiple submitters
- TPSD1 p.Asn196Lys Uncertain significance Single submitter
- TPSD1 p.Asp215Tyr Uncertain significance Single submitter
- TPSD1 p.Leu12Pro Uncertain significance Single submitter
- TPSD1 p.Met216Ile Uncertain significance Single submitter
- TPSD1 p.Val174Gly Uncertain significance Single submitter
All TPSD1 variants
Benign 2
- p.Gly229Ser Multiple submitters ⚠
- p.Thr205= Multiple submitters
Likely benign 5
- p.Ala20Val Single submitter
- p.Arg46Gly Single submitter
- p.Gln35Arg Single submitter
- p.Ile140Val Single submitter
- p.Val189Ile Single submitter
Uncertain significance 65
- p.Ala15Val Single submitter ⚠
- p.Ala197Thr Single submitter ⚠
- p.Ala20Thr Single submitter ⚠
- p.Ala5Gly Single submitter ⚠
- p.Ala5Val Single submitter ⚠
- p.Ala79Gly Single submitter ⚠
- p.Ala79Thr Single submitter ⚠
- p.Ala79Val Single submitter ⚠
- p.Ala80Val Single submitter ⚠
- p.Arg213His Single submitter ⚠
- p.Arg94Ser Single submitter bladder exstrophy-epispadias-cloacal exstrophy complex ⚠
- p.Arg98Gln Single submitter ⚠
- p.Asn196Lys Single submitter ⚠
- p.Asp169Asn Single submitter ⚠
- p.Asp171Gly Single submitter ⚠
- p.Asp214Asn Single submitter ⚠
- p.Asp215Tyr Single submitter ⚠
- p.Cys162Arg Single submitter ⚠
- p.Cys82Phe Single submitter ⚠
- p.Cys82Ser Single submitter ⚠
- p.Gln100Lys Single submitter ⚠
- p.Gln107Pro Single submitter ⚠
- p.Gln119Glu Single submitter ⚠
- p.Gln124Arg Single submitter ⚠
- p.Gln74Pro Single submitter ⚠
- p.Glu184Val Single submitter ⚠
- p.Glu222Lys Single submitter ⚠
- p.Gly126Arg Single submitter ⚠
- p.Gly166Ser Single submitter ⚠
- p.Gly168Ala Single submitter ⚠
- p.Gly202Ser Single submitter ⚠
- p.Gly241Cys Single submitter
- p.Gly30Cys Single submitter ⚠
- p.Gly40Ala Single submitter
- p.Gly40Trp Single submitter ⚠
- p.Gly59Ser Single submitter ⚠
- p.Gly67Arg Single submitter ⚠
- p.His101Tyr Single submitter ⚠
- p.His175Tyr Single submitter ⚠
- p.His64Asn Single submitter ⚠
- p.Ile140Met Single submitter ⚠
- p.Ile71Asn Single submitter ⚠
- p.Leu12Pro Single submitter ⚠
- p.Leu132Met Single submitter
- p.Leu134Pro Single submitter ⚠
- p.Met216Ile Single submitter ⚠
- p.Met63Ile Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Pro158Leu Single submitter ⚠
- p.Pro177Leu Single submitter ⚠
- p.Pro181Leu Single submitter ⚠
- p.Ser10Asn Single submitter ⚠
- p.Ser141Thr Single submitter ⚠
- p.Ser69Phe Single submitter ⚠
- p.Thr146Met Single submitter ⚠
- p.Thr148Ala Single submitter ⚠
- p.Thr148Lys Single submitter ⚠
- p.Thr36Met Single submitter ⚠
- p.Val116Met Single submitter ⚠
- p.Val138Ala Single submitter ⚠
- p.Val170Glu Single submitter ⚠
- p.Val170Met Single submitter ⚠
- p.Val174Gly Single submitter ⚠
- p.Val18Ile Single submitter ⚠
- p.Val212Ile Single submitter ⚠