TK1 — 37 ClinVar variants
All ClinVar germline TK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
1 Benign · 1 Likely benign · 35 Uncertain significance
Full TK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TK1 p.Ala151Val Uncertain significance Single submitter
- TK1 p.Ala193Thr Uncertain significance Single submitter
- TK1 p.Arg186Trp Uncertain significance Single submitter
- TK1 p.Arg39Cys Uncertain significance Single submitter
- TK1 p.Arg41Cys Uncertain significance Single submitter
- TK1 p.Arg60His Uncertain significance Single submitter
- TK1 p.Arg82Gln Uncertain significance Single submitter
- TK1 p.Cys206Phe Uncertain significance Single submitter
- TK1 p.Cys230Arg Uncertain significance Single submitter
- TK1 p.Gln225Arg Uncertain significance Single submitter
- TK1 p.Gln44His Uncertain significance Single submitter
- TK1 p.Gln47Arg Uncertain significance Single submitter
- TK1 p.Glu159Gly Uncertain significance Single submitter
- TK1 p.Gly12Ser Uncertain significance Single submitter
- TK1 p.Gly167Ser Uncertain significance Single submitter
- TK1 p.Gly199Arg Uncertain significance Single submitter
- TK1 p.Gly213Arg Uncertain significance Single submitter
- TK1 p.Ile175Thr Uncertain significance Single submitter
- TK1 p.Lys211Glu Uncertain significance Single submitter
- TK1 p.Pro141Leu Uncertain significance Single submitter
- TK1 p.Pro207Ser Uncertain significance Single submitter
- TK1 p.Pro232Leu Uncertain significance Single submitter
- TK1 p.Thr59Ile Uncertain significance Single submitter
- TK1 p.Thr8Ala Uncertain significance Single submitter
- TK1 p.Thr8Ile Uncertain significance Single submitter
- TK1 p.Val216Met Uncertain significance Single submitter
- TK1 p.Val9Met Uncertain significance Single submitter
- TK1 p.Gly199Val Uncertain significance No assertion criteria
Predictors split 6
The independent predictors disagree with each other — read with care.
- TK1 p.Arg70Trp Uncertain significance Single submitter
- TK1 p.Leu89Pro Uncertain significance Single submitter
- TK1 p.Lys164Gln Uncertain significance Single submitter
- TK1 p.Met154Ile Uncertain significance Single submitter
- TK1 p.Thr150Arg Uncertain significance Single submitter
- TK1 p.Thr150Met Uncertain significance Single submitter
All TK1 variants
Benign 1
- p.Ala198= Multiple submitters
Likely benign 1
- p.Pro200Leu Single submitter
Uncertain significance 35
- p.Ala151Val Single submitter ⚠
- p.Ala193Thr Single submitter ⚠
- p.Arg186Trp Single submitter ⚠
- p.Arg39Cys Single submitter ⚠
- p.Arg41Cys Single submitter ⚠
- p.Arg60His Single submitter ⚠
- p.Arg70Trp Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Cys206Phe Single submitter ⚠
- p.Cys230Arg Single submitter ⚠
- p.Gln225Arg Single submitter ⚠
- p.Gln44His Single submitter ⚠
- p.Gln47Arg Single submitter ⚠
- p.Glu159Gly Single submitter ⚠
- p.Gly12Ser Single submitter ⚠
- p.Gly167Ser Single submitter ⚠
- p.Gly199Arg Single submitter ⚠
- p.Gly213Arg Single submitter ⚠
- p.Ile175Thr Single submitter ⚠
- p.Leu89Pro Single submitter ⚠
- p.Lys164Gln Single submitter ⚠
- p.Lys211Glu Single submitter ⚠
- p.Met154Ile Single submitter ⚠
- p.Met73Thr Single submitter
- p.Pro141Leu Single submitter ⚠
- p.Pro207Ser Single submitter ⚠
- p.Pro232Leu Single submitter ⚠
- p.Thr150Arg Single submitter ⚠
- p.Thr150Met Single submitter ⚠
- p.Thr59Ile Single submitter ⚠
- p.Thr8Ala Single submitter ⚠
- p.Thr8Ile Single submitter ⚠
- p.Val216Met Single submitter ⚠
- p.Val9Met Single submitter ⚠
- p.Gly199Val No assertion criteria ⚠