TYMS — 29 ClinVar variants
All ClinVar germline TYMS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
5 Pathogenic · 2 Benign · 11 Likely benign · 11 Uncertain significance
Full TYMS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TYMS p.Ala4Ser Uncertain significance Single submitter
- TYMS p.Asn260His Uncertain significance Single submitter
-
TYMS p.Gln160His
Uncertain significance
Single submitter
dyskeratosis congenita
-
TYMS p.Glu87Lys
Uncertain significance
Single submitter
dyskeratosis congenita
- TYMS p.Gly29Arg Uncertain significance Single submitter
- TYMS p.Ile237Thr Uncertain significance Single submitter
- TYMS p.Pro15Arg Uncertain significance Single submitter
- TYMS p.Pro15His Uncertain significance Single submitter
- TYMS p.Pro24Thr Uncertain significance Single submitter
- TYMS p.Ser120Arg Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All TYMS variants
Pathogenic 5
- c.556+1G>A Single submitter dyskeratosis congenita
- p.Arg115Ter Single submitter dyskeratosis congenita
- p.Arg163fs Single submitter dyskeratosis congenita
- p.Arg271Ter Single submitter dyskeratosis congenita
- p.Met179Ter Single submitter dyskeratosis congenita
Benign 2
- c.205+200C>A Single submitter
- p.Glu127= No assertion criteria TYMS-related disorder
Likely benign 11
- c.455-1519_455-1484del Single submitter
- c.455-1525T>C Single submitter
- p.Arg185Lys Single submitter
- p.Gln32= Single submitter
- p.Glu150Asp Single submitter
- p.Ile262= Single submitter
- p.Leu13Ser Single submitter
- p.Pro15Ser Single submitter
- p.Tyr230= Single submitter
- p.Val223= Single submitter
- p.Arg46= No assertion criteria TYMS-related disorder
Uncertain significance 11
- p.Ala4Ser Single submitter ⚠
- p.Asn260His Single submitter ⚠
- p.Asp148Glu Single submitter ⚠
- p.Gln160His Single submitter dyskeratosis congenita ⚠
- p.Glu87Lys Single submitter dyskeratosis congenita ⚠
- p.Gly29Arg Single submitter ⚠
- p.Ile237Thr Single submitter ⚠
- p.Pro15Arg Single submitter ⚠
- p.Pro15His Single submitter ⚠
- p.Pro24Thr Single submitter ⚠
- p.Ser120Arg Single submitter ⚠