DMAC2 — 57 ClinVar variants
All ClinVar germline DMAC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
12 Likely benign · 45 Uncertain significance
Full DMAC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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.
- DMAC2 p.Ala193Thr Uncertain significance Single submitter
- DMAC2 p.Ala237Thr Uncertain significance Single submitter
- DMAC2 p.Ala27Val Uncertain significance Single submitter
- DMAC2 p.Ala86Thr Uncertain significance Single submitter
- DMAC2 p.Arg146Gly Uncertain significance Single submitter
- DMAC2 p.Arg146His Uncertain significance Single submitter
- DMAC2 p.Arg18Cys Uncertain significance Single submitter
- DMAC2 p.Arg190Gln Uncertain significance Single submitter
- DMAC2 p.Arg249Pro Uncertain significance Single submitter
- DMAC2 p.Arg39Gly Uncertain significance Single submitter
- DMAC2 p.Asn228Lys Uncertain significance Single submitter
- DMAC2 p.Asn228Ser Uncertain significance Single submitter
- DMAC2 p.Asp174Asn Uncertain significance Single submitter
- DMAC2 p.Asp51Asn Uncertain significance Single submitter
- DMAC2 p.Gln61His Uncertain significance Single submitter
- DMAC2 p.Glu123Lys Uncertain significance Single submitter
- DMAC2 p.Glu238Gly Uncertain significance Single submitter
- DMAC2 p.His81Arg Uncertain significance Single submitter
- DMAC2 p.Leu201Phe Uncertain significance Single submitter
- DMAC2 p.Leu240Pro Uncertain significance Single submitter
- DMAC2 p.Lys103Glu Uncertain significance Single submitter
- DMAC2 p.Met14Lys Uncertain significance Single submitter
- DMAC2 p.Phe118Val Uncertain significance Single submitter
- DMAC2 p.Phe49Tyr Uncertain significance Single submitter
- DMAC2 p.Pro244Leu Uncertain significance Single submitter
- DMAC2 p.Trp15Cys Uncertain significance Single submitter
- DMAC2 p.Trp236Gly Uncertain significance Single submitter
- DMAC2 p.Trp5Ser Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- DMAC2 p.Arg107Ser Uncertain significance Single submitter
- DMAC2 p.Arg168Cys Uncertain significance Single submitter
- DMAC2 p.Arg18His Uncertain significance Single submitter
- DMAC2 p.Arg20Lys Uncertain significance Single submitter
- DMAC2 p.Arg20Thr Uncertain significance Single submitter
- DMAC2 p.Arg249Trp Uncertain significance Single submitter
- DMAC2 p.Arg9His Likely benign Single submitter
- DMAC2 p.Asp163Asn Uncertain significance Single submitter
- DMAC2 p.Glu139Lys Uncertain significance Single submitter
- DMAC2 p.Gly183Ser Uncertain significance Single submitter
- DMAC2 p.Gly95Glu Uncertain significance Single submitter
- DMAC2 p.Leu217Val Uncertain significance Single submitter
- DMAC2 p.Pro125Ala Uncertain significance Single submitter
- DMAC2 p.Ser207Leu Uncertain significance Single submitter
- DMAC2 p.Tyr111Cys Uncertain significance Single submitter
- DMAC2 p.Tyr138His Uncertain significance Single submitter
- DMAC2 p.Val161Met Uncertain significance Single submitter
- DMAC2 p.Val231Ala Uncertain significance Single submitter
- DMAC2 p.Val255Ile Likely benign Single submitter
All DMAC2 variants
Likely benign 12
- p.His23Arg Multiple submitters
- p.Arg249Gln Single submitter
- p.Arg9His Single submitter ⚠
- p.Asn228= Single submitter
- p.Asp205= Single submitter
- p.Cys229= Single submitter
- p.Glu139Gln Single submitter
- p.Gly132Ser Single submitter
- p.Gly85Ser Single submitter
- p.Ser207= Single submitter
- p.Val231= Single submitter
- p.Val255Ile Single submitter ⚠
Uncertain significance 45
- p.Ala193Thr Single submitter ⚠
- p.Ala237Thr Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Ala86Thr Single submitter ⚠
- p.Arg107Ser Single submitter ⚠
- p.Arg146Gly Single submitter ⚠
- p.Arg146His Single submitter ⚠
- p.Arg168Cys Single submitter ⚠
- p.Arg18Cys Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg190Gln Single submitter ⚠
- p.Arg20Lys Single submitter ⚠
- p.Arg20Thr Single submitter ⚠
- p.Arg249Pro Single submitter ⚠
- p.Arg249Trp Single submitter ⚠
- p.Arg39Gly Single submitter ⚠
- p.Asn228Lys Single submitter ⚠
- p.Asn228Ser Single submitter ⚠
- p.Asp163Asn Single submitter ⚠
- p.Asp174Asn Single submitter ⚠
- p.Asp51Asn Single submitter ⚠
- p.Gln61His Single submitter ⚠
- p.Glu123Lys Single submitter ⚠
- p.Glu139Lys Single submitter ⚠
- p.Glu238Gly Single submitter ⚠
- p.Gly183Ser Single submitter ⚠
- p.Gly95Glu Single submitter ⚠
- p.His81Arg Single submitter ⚠
- p.Leu201Phe Single submitter ⚠
- p.Leu217Val Single submitter ⚠
- p.Leu240Pro Single submitter ⚠
- p.Lys103Glu Single submitter ⚠
- p.Met14Lys Single submitter ⚠
- p.Phe118Val Single submitter ⚠
- p.Phe49Tyr Single submitter ⚠
- p.Pro125Ala Single submitter ⚠
- p.Pro244Leu Single submitter ⚠
- p.Ser207Leu Single submitter ⚠
- p.Trp15Cys Single submitter ⚠
- p.Trp236Gly Single submitter ⚠
- p.Trp5Ser Single submitter ⚠
- p.Tyr111Cys Single submitter ⚠
- p.Tyr138His Single submitter ⚠
- p.Val161Met Single submitter ⚠
- p.Val231Ala Single submitter ⚠