TMX1 — 36 ClinVar variants
All ClinVar germline TMX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
2 Likely benign · 34 Uncertain significance
Full TMX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TMX1 p.Ala203Thr Uncertain significance Single submitter
- TMX1 p.Ala58Thr Uncertain significance Single submitter
- TMX1 p.Ala8Gly Uncertain significance Single submitter
- TMX1 p.Arg212His Uncertain significance Single submitter
- TMX1 p.Gln157Arg Uncertain significance Single submitter
- TMX1 p.Gln268Glu Uncertain significance Single submitter
- TMX1 p.Glu131Gln Uncertain significance Single submitter
- TMX1 p.Glu250Ala Uncertain significance Single submitter
- TMX1 p.Glu252Lys Uncertain significance Single submitter
- TMX1 p.Gly20Ser Uncertain significance Single submitter
- TMX1 p.Gly5Arg Uncertain significance Single submitter
- TMX1 p.Ile124Met Uncertain significance Single submitter
- TMX1 p.Ile266Val Uncertain significance Single submitter
- TMX1 p.Ile49Leu Uncertain significance Single submitter
- TMX1 p.Leu194Ser Uncertain significance Single submitter
- TMX1 p.Leu275Met Uncertain significance Single submitter
- TMX1 p.Lys234Ile Uncertain significance Single submitter
- TMX1 p.Met48Ile Uncertain significance Single submitter
- TMX1 p.Pro144Ala Uncertain significance Single submitter
- TMX1 p.Pro231Thr Uncertain significance Single submitter
- TMX1 p.Pro3Ser Uncertain significance Single submitter
- TMX1 p.Ser191Ala Uncertain significance Single submitter
- TMX1 p.Ser280Tyr Uncertain significance Single submitter
- TMX1 p.Tyr181Cys Uncertain significance Single submitter
- TMX1 p.Tyr219Cys Uncertain significance Single submitter
- TMX1 p.Tyr219His Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- TMX1 p.Cys198Trp Uncertain significance Single submitter
- TMX1 p.Gly45Glu Uncertain significance Single submitter
- TMX1 p.Ile127Leu Uncertain significance Single submitter
- TMX1 p.Leu173Arg Uncertain significance Single submitter
- TMX1 p.Phe201Leu Uncertain significance Single submitter
- TMX1 p.Thr119Ala Uncertain significance Single submitter
- TMX1 p.Trp141Arg Uncertain significance Single submitter
All TMX1 variants
Likely benign 2
- p.Leu158= Multiple submitters
- p.Leu11Val Single submitter
Uncertain significance 34
- p.Ala203Thr Single submitter ⚠
- p.Ala58Thr Single submitter ⚠
- p.Ala8Gly Single submitter ⚠
- p.Arg212His Single submitter ⚠
- p.Cys198Trp Single submitter ⚠
- p.Gln157Arg Single submitter ⚠
- p.Gln268Glu Single submitter ⚠
- p.Glu131Gln Single submitter ⚠
- p.Glu250Ala Single submitter ⚠
- p.Glu252Lys Single submitter ⚠
- p.Gly20Ser Single submitter ⚠
- p.Gly45Glu Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.Ile124Met Single submitter ⚠
- p.Ile127Leu Single submitter ⚠
- p.Ile266Val Single submitter ⚠
- p.Ile49Leu Single submitter ⚠
- p.Leu11fs Single submitter
- p.Leu173Arg Single submitter ⚠
- p.Leu194Ser Single submitter ⚠
- p.Leu275Met Single submitter ⚠
- p.Lys234Ile Single submitter ⚠
- p.Met48Ile Single submitter ⚠
- p.Phe201Leu Single submitter ⚠
- p.Pro144Ala Single submitter ⚠
- p.Pro231Thr Single submitter ⚠
- p.Pro3Ser Single submitter ⚠
- p.Ser191Ala Single submitter ⚠
- p.Ser280Tyr Single submitter ⚠
- p.Thr119Ala Single submitter ⚠
- p.Trp141Arg Single submitter ⚠
- p.Tyr181Cys Single submitter ⚠
- p.Tyr219Cys Single submitter ⚠
- p.Tyr219His Single submitter ⚠