DMTN — 42 ClinVar variants
All ClinVar germline DMTN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
2 Likely benign · 40 Uncertain significance
Full DMTN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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.
- DMTN p.Arg135Cys Uncertain significance Single submitter
- DMTN p.Arg150Lys Uncertain significance Single submitter
- DMTN p.Arg208Trp Uncertain significance Single submitter
- DMTN p.Arg212Trp Uncertain significance Single submitter
- DMTN p.Arg236Leu Uncertain significance Single submitter
- DMTN p.Arg264Gln Uncertain significance Single submitter
- DMTN p.Arg268His Uncertain significance Single submitter
- DMTN p.Arg273Gln Uncertain significance Single submitter
- DMTN p.Arg325Ser Uncertain significance Single submitter
- DMTN p.Arg3Leu Uncertain significance Single submitter
- DMTN p.Asp225Asn Uncertain significance Single submitter
- DMTN p.Gln37Glu Uncertain significance Single submitter
- DMTN p.Gly317Asp Uncertain significance Single submitter
- DMTN p.Gly326Val Uncertain significance Single submitter
- DMTN p.His281Tyr Uncertain significance Single submitter
- DMTN p.Ile263Thr Uncertain significance Single submitter
- DMTN p.Lys172Arg Uncertain significance Single submitter
- DMTN p.Lys389Arg Uncertain significance Single submitter
- DMTN p.Pro126Leu Uncertain significance Single submitter
- DMTN p.Pro17Leu Uncertain significance Single submitter
- DMTN p.Pro24Ser Uncertain significance Single submitter
- DMTN p.Pro94Gln Uncertain significance Single submitter
- DMTN p.Pro94Thr Uncertain significance Single submitter
- DMTN p.Ser242Arg Uncertain significance Single submitter
- DMTN p.Ser299Thr Uncertain significance Single submitter
- DMTN p.Val23Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- DMTN p.Ala199Gly Uncertain significance Single submitter
- DMTN p.Arg366Gln Uncertain significance Single submitter
- DMTN p.Asn36Ile Uncertain significance Single submitter
- DMTN p.Glu374Lys Uncertain significance Single submitter
- DMTN p.Gly25Asp Uncertain significance Single submitter
- DMTN p.Met251Ile Uncertain significance Single submitter
- DMTN p.Met365Ile Uncertain significance Single submitter
- DMTN p.Ser269Cys Uncertain significance Single submitter
- DMTN p.Tyr41Cys Uncertain significance Single submitter
All DMTN variants
Likely benign 2
- p.Ile187= Single submitter
- p.Val153Met Single submitter
Uncertain significance 40
- c.295-2A>T Single submitter
- c.604+2T>G Single submitter
- p.Ala199Gly Single submitter ⚠
- p.Arg122fs Single submitter
- p.Arg135Cys Single submitter ⚠
- p.Arg150Lys Single submitter ⚠
- p.Arg208Trp Single submitter ⚠
- p.Arg212Trp Single submitter ⚠
- p.Arg236Leu Single submitter ⚠
- p.Arg264Gln Single submitter ⚠
- p.Arg268His Single submitter ⚠
- p.Arg273Gln Single submitter ⚠
- p.Arg325Ser Single submitter ⚠
- p.Arg366Gln Single submitter ⚠
- p.Arg3Leu Single submitter ⚠
- p.Asn36Ile Single submitter ⚠
- p.Asp225Asn Single submitter ⚠
- p.Gln302fs Single submitter
- p.Gln37Glu Single submitter ⚠
- p.Glu374Lys Single submitter ⚠
- p.Gly25Asp Single submitter ⚠
- p.Gly317Asp Single submitter ⚠
- p.Gly326Val Single submitter ⚠
- p.His281Tyr Single submitter ⚠
- p.Ile263Thr Single submitter ⚠
- p.Lys172Arg Single submitter ⚠
- p.Lys389Arg Single submitter ⚠
- p.Met251Ile Single submitter ⚠
- p.Met365Ile Single submitter ⚠
- p.Pro126Leu Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro24Ser Single submitter ⚠
- p.Pro27Ser Single submitter
- p.Pro94Gln Single submitter ⚠
- p.Pro94Thr Single submitter ⚠
- p.Ser242Arg Single submitter ⚠
- p.Ser269Cys Single submitter ⚠
- p.Ser299Thr Single submitter ⚠
- p.Tyr41Cys Single submitter ⚠
- p.Val23Met Single submitter ⚠