DTYMK — 53 ClinVar variants
All ClinVar germline DTYMK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 1 Benign · 6 Likely benign · 41 Uncertain significance
Full DTYMK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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DTYMK p.Pro81Leu
Likely pathogenic
Single submitter
neurodegeneration, childhood-onset, with progressive microcephaly
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DTYMK p.Ala99Thr
Pathogenic
No assertion criteria
neurodegeneration, childhood-onset, with progressive microcephaly
Predictors lean, ClinVar uncertain 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DTYMK p.Ala145Thr Uncertain significance Single submitter
- DTYMK p.Ala198Val Uncertain significance Single submitter
- DTYMK p.Ala29Ser Uncertain significance Single submitter
- DTYMK p.Arg143Gln Uncertain significance Single submitter
- DTYMK p.Arg143Trp Uncertain significance Single submitter
- DTYMK p.Gly13Ser Uncertain significance Single submitter
- DTYMK p.Gly18Arg Uncertain significance Single submitter
- DTYMK p.Ile9Val Uncertain significance Single submitter
- DTYMK p.Pro43Leu Uncertain significance Single submitter
- DTYMK p.Ser101Cys Uncertain significance Single submitter
- DTYMK p.Thr171Ser Uncertain significance Single submitter
- DTYMK p.Val130Gly Uncertain significance Single submitter
- DTYMK p.Val193Gly Uncertain significance Single submitter
- DTYMK p.Val193Met Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- DTYMK p.His35Tyr Benign Multiple submitters
- DTYMK p.Ala104Val Uncertain significance Single submitter
- DTYMK p.Ala198Thr Likely benign Single submitter
- DTYMK p.Ala29Gly Uncertain significance Single submitter
- DTYMK p.Ala2Val Uncertain significance Single submitter
- DTYMK p.Ala3Val Uncertain significance Single submitter
- DTYMK p.Arg150Cys Uncertain significance Single submitter
- DTYMK p.Arg159Gln Uncertain significance Single submitter
- DTYMK p.Arg159Trp Uncertain significance Single submitter
- DTYMK p.Arg192Cys Uncertain significance Single submitter
- DTYMK p.Arg200Cys Uncertain significance Single submitter
- DTYMK p.Arg200His Uncertain significance Single submitter
- DTYMK p.Arg36Gly Uncertain significance Single submitter
- DTYMK p.Arg4Leu Uncertain significance Single submitter
- DTYMK p.Arg4Trp Uncertain significance Single submitter
- DTYMK p.Asp121Glu Uncertain significance Single submitter
- DTYMK p.Gln58Pro Uncertain significance Single submitter
- DTYMK p.Glu196Ala Uncertain significance Single submitter
- DTYMK p.Ile49Leu Uncertain significance Single submitter
- DTYMK p.Leu11Val Uncertain significance Single submitter
- DTYMK p.Leu131Val Likely benign Single submitter
- DTYMK p.Leu167Phe Uncertain significance Single submitter
- DTYMK p.Leu8Phe Uncertain significance Single submitter
- DTYMK p.Pro120Ser Uncertain significance Single submitter
- DTYMK p.Pro206Leu Uncertain significance Single submitter
- DTYMK p.Ser181Phe Uncertain significance Single submitter
- DTYMK p.Ser61Arg Uncertain significance Single submitter
- DTYMK p.Val122Met Uncertain significance Single submitter
- DTYMK p.Val95Leu Uncertain significance Single submitter
- DTYMK p.Val95Met Uncertain significance Single submitter
All DTYMK variants
Pathogenic 3
- p.Ala99Thr No assertion criteria neurodegeneration, childhood-onset, with progressive microcephaly ⚠
- p.Asp128Asn No assertion criteria neurodegeneration, childhood-onset, with progressive microcephaly
- p.Asp96fs No assertion criteria neurodegeneration, childhood-onset, with progressive microcephaly
Likely pathogenic 2
- p.Gln89_Gly90del Single submitter neurodegeneration, childhood-onset, with progressive microcephaly
- p.Pro81Leu Single submitter neurodegeneration, childhood-onset, with progressive microcephaly ⚠
Benign 1
- p.His35Tyr Multiple submitters ⚠
Likely benign 6
- p.Ala198Thr Single submitter ⚠
- p.Glu204Gln Single submitter
- p.Gly107Ser Single submitter
- p.Leu131Val Single submitter ⚠
- p.Thr171= Single submitter
- p.Val63= Single submitter
Uncertain significance 41
- p.Ala104Val Single submitter ⚠
- p.Ala145Thr Single submitter ⚠
- p.Ala198Val Single submitter ⚠
- p.Ala29Gly Single submitter ⚠
- p.Ala29Ser Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Arg143Gln Single submitter ⚠
- p.Arg143Trp Single submitter ⚠
- p.Arg150Cys Single submitter ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg159Trp Single submitter ⚠
- p.Arg192Cys Single submitter ⚠
- p.Arg200Cys Single submitter ⚠
- p.Arg200His Single submitter ⚠
- p.Arg36Gly Single submitter ⚠
- p.Arg4Leu Single submitter ⚠
- p.Arg4Trp Single submitter ⚠
- p.Asp121Glu Single submitter ⚠
- p.Gln58Pro Single submitter ⚠
- p.Glu196Ala Single submitter ⚠
- p.Gly13Ser Single submitter ⚠
- p.Gly18Arg Single submitter ⚠
- p.Ile49Leu Single submitter ⚠
- p.Ile9Val Single submitter ⚠
- p.Leu11Val Single submitter ⚠
- p.Leu167Phe Single submitter ⚠
- p.Leu8Phe Single submitter ⚠
- p.Pro120Ser Single submitter ⚠
- p.Pro206Leu Single submitter ⚠
- p.Pro43Leu Single submitter ⚠
- p.Ser101Cys Single submitter ⚠
- p.Ser181Phe Single submitter ⚠
- p.Ser61Arg Single submitter ⚠
- p.Thr171Ser Single submitter ⚠
- p.Val122Met Single submitter ⚠
- p.Val130Gly Single submitter ⚠
- p.Val193Gly Single submitter ⚠
- p.Val193Met Single submitter ⚠
- p.Val95Leu Single submitter ⚠
- p.Val95Met Single submitter ⚠