TPMT — 29 ClinVar variants
All ClinVar germline TPMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →
10 Likely benign · 19 Uncertain significance
Full TPMT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 19
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TPMT p.Ala167Thr Uncertain significance Single submitter
- TPMT p.Arg5Gly Uncertain significance Single submitter
- TPMT p.Arg82Gln Uncertain significance Single submitter
- TPMT p.Gln44Arg Uncertain significance Single submitter
- TPMT p.Glu43Asp Uncertain significance Single submitter
- TPMT p.Glu98Asp Uncertain significance Single submitter
- TPMT p.Gly175Glu Uncertain significance Single submitter
- TPMT p.Gly45Arg Uncertain significance Single submitter
- TPMT p.Ile211Met Uncertain significance Single submitter
- TPMT p.Leu207Phe Uncertain significance Single submitter
- TPMT p.Leu235Pro Uncertain significance Single submitter
- TPMT p.Lys20Glu Uncertain significance Single submitter
- TPMT p.Pro193Ser Uncertain significance Single submitter
- TPMT p.Pro195Leu Uncertain significance Single submitter
- TPMT p.Ser14Leu Uncertain significance Single submitter
- TPMT p.Trp230Cys Uncertain significance Single submitter
- TPMT p.Tyr187Ser Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All TPMT variants
Likely benign 10
- p.Ile158= Multiple submitters
- c.141-10del Single submitter
- c.141-10dup Single submitter
- c.367-17del Single submitter
- c.420-4G>A Single submitter
- c.580+14G>T Single submitter
- p.Gln103= Single submitter
- p.Leu130= Single submitter
- p.Leu138Phe Single submitter
- p.Ser125= No assertion criteria TPMT-related disorder
Uncertain significance 19
- p.Ala167Thr Single submitter ⚠
- p.Arg5Gly Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Asp137Tyr Single submitter ⚠
- p.Gln44Arg Single submitter ⚠
- p.Glu43Asp Single submitter ⚠
- p.Glu98Asp Single submitter ⚠
- p.Gly126Ala Single submitter ⚠
- p.Gly175Glu Single submitter ⚠
- p.Gly45Arg Single submitter ⚠
- p.Ile211Met Single submitter ⚠
- p.Leu207Phe Single submitter ⚠
- p.Leu235Pro Single submitter ⚠
- p.Lys20Glu Single submitter ⚠
- p.Pro193Ser Single submitter ⚠
- p.Pro195Leu Single submitter ⚠
- p.Ser14Leu Single submitter ⚠
- p.Trp230Cys Single submitter ⚠
- p.Tyr187Ser Single submitter ⚠