TLK1 — 48 ClinVar variants
All ClinVar germline TLK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Likely benign · 47 Uncertain significance
Full TLK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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TLK1 p.Gln479Glu
Uncertain significance
Multiple submitters
neurodevelopmental disorder
- TLK1 p.Ala359Thr Uncertain significance Single submitter
- TLK1 p.Ala754Pro Uncertain significance Single submitter
- TLK1 p.Arg251Gln Uncertain significance Single submitter
- TLK1 p.Arg43Thr Uncertain significance Single submitter
- TLK1 p.Arg45Gly Uncertain significance Single submitter
- TLK1 p.Arg739Lys Uncertain significance Single submitter
- TLK1 p.Asn730Ile Uncertain significance Single submitter
- TLK1 p.Asn742Asp Uncertain significance Single submitter
- TLK1 p.Gln230Arg Uncertain significance Single submitter
- TLK1 p.Glu434Asp Uncertain significance Single submitter
-
TLK1 p.Glu478Gly
Uncertain significance
Single submitter
TLK1-related disorder
- TLK1 p.Gly26Ala Uncertain significance Single submitter
- TLK1 p.Gly463Arg Uncertain significance Single submitter
- TLK1 p.His199Arg Uncertain significance Single submitter
- TLK1 p.Leu278Val Uncertain significance Single submitter
- TLK1 p.Leu34Val Uncertain significance Single submitter
- TLK1 p.Leu734Val Uncertain significance Single submitter
- TLK1 p.Lys205Arg Uncertain significance Single submitter
- TLK1 p.Lys205Gln Uncertain significance Single submitter
- TLK1 p.Phe664Ile Uncertain significance Single submitter
- TLK1 p.Pro171Ala Uncertain significance Single submitter
- TLK1 p.Pro759Ala Uncertain significance Single submitter
- TLK1 p.Ser120Cys Uncertain significance Single submitter
- TLK1 p.Ser208Phe Uncertain significance Single submitter
- TLK1 p.Ser20Cys Uncertain significance Single submitter
- TLK1 p.Ser27Leu Uncertain significance Single submitter
- TLK1 p.Ser282Ile Uncertain significance Single submitter
- TLK1 p.Ser54Thr Uncertain significance Single submitter
- TLK1 p.Thr179Ile Uncertain significance Single submitter
- TLK1 p.Thr78Met Uncertain significance Single submitter
- TLK1 p.Tyr481Cys Uncertain significance Single submitter
- TLK1 p.Val161Ala Uncertain significance Single submitter
- TLK1 p.Val161Leu Uncertain significance Single submitter
- TLK1 p.Val427Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- TLK1 p.Arg299Cys Uncertain significance Single submitter
- TLK1 p.Arg713Cys Uncertain significance Single submitter
- TLK1 p.Gln256Arg Uncertain significance Single submitter
- TLK1 p.Gly102Arg Uncertain significance Single submitter
- TLK1 p.Lys228Asn Uncertain significance Single submitter
- TLK1 p.Met49Ile Uncertain significance Single submitter
- TLK1 p.Pro57Leu Uncertain significance Single submitter
- TLK1 p.Ser618Ile Uncertain significance Single submitter
- TLK1 p.Ser743Cys Uncertain significance Single submitter
All TLK1 variants
Likely benign 1
- p.Thr533= Single submitter
Uncertain significance 47
- p.Gln479Glu Multiple submitters neurodevelopmental disorder ⚠
- p.Ala359Thr Single submitter ⚠
- p.Ala754Pro Single submitter ⚠
- p.Arg251Gln Single submitter ⚠
- p.Arg299Cys Single submitter ⚠
- p.Arg43Thr Single submitter ⚠
- p.Arg45Gly Single submitter ⚠
- p.Arg713Cys Single submitter ⚠
- p.Arg739Lys Single submitter ⚠
- p.Asn730Ile Single submitter ⚠
- p.Asn742Asp Single submitter ⚠
- p.Gln230Arg Single submitter ⚠
- p.Gln256Arg Single submitter ⚠
- p.Glu434Asp Single submitter ⚠
- p.Glu478Gly Single submitter TLK1-related disorder ⚠
- p.Gly102Arg Single submitter ⚠
- p.Gly26Ala Single submitter ⚠
- p.Gly463Arg Single submitter ⚠
- p.His199Arg Single submitter ⚠
- p.Leu278Val Single submitter ⚠
- p.Leu34Val Single submitter ⚠
- p.Leu405fs Single submitter
- p.Leu734Val Single submitter ⚠
- p.Lys205Arg Single submitter ⚠
- p.Lys205Gln Single submitter ⚠
- p.Lys228Asn Single submitter ⚠
- p.Met49Ile Single submitter ⚠
- p.Phe664Ile Single submitter ⚠
- p.Pro112Leu Single submitter
- p.Pro171Ala Single submitter ⚠
- p.Pro57Leu Single submitter ⚠
- p.Pro759Ala Single submitter ⚠
- p.Ser120Cys Single submitter ⚠
- p.Ser208Phe Single submitter ⚠
- p.Ser20Cys Single submitter ⚠
- p.Ser27Leu Single submitter ⚠
- p.Ser282Ile Single submitter ⚠
- p.Ser54Thr Single submitter ⚠
- p.Ser618Ile Single submitter ⚠
- p.Ser743Cys Single submitter ⚠
- p.Thr179Ile Single submitter ⚠
- p.Thr38fs Single submitter
- p.Thr78Met Single submitter ⚠
- p.Tyr481Cys Single submitter ⚠
- p.Val161Ala Single submitter ⚠
- p.Val161Leu Single submitter ⚠
- p.Val427Ile Single submitter ⚠