GMDS — 44 ClinVar variants
All ClinVar germline GMDS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Likely benign · 43 Uncertain significance
Full GMDS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GMDS p.Ala121Val Uncertain significance Single submitter
- GMDS p.Ala125Val Uncertain significance Single submitter
- GMDS p.Ala153Thr Uncertain significance Single submitter
- GMDS p.Ala2Thr Uncertain significance Single submitter
- GMDS p.Arg176Gln Uncertain significance Single submitter
- GMDS p.Arg55Trp Uncertain significance Single submitter
- GMDS p.Arg56Trp Uncertain significance Single submitter
- GMDS p.Arg7Cys Uncertain significance Single submitter
- GMDS p.Arg7Leu Uncertain significance Single submitter
- GMDS p.Asn24His Uncertain significance Single submitter
- GMDS p.Asn371Ser Uncertain significance Single submitter
- GMDS p.Asp266Asn Uncertain significance Single submitter
- GMDS p.Glu267Lys Uncertain significance Single submitter
- GMDS p.Gly17Ser Uncertain significance Single submitter
- GMDS p.His3Arg Uncertain significance Single submitter
- GMDS p.Ile292Val Uncertain significance Single submitter
- GMDS p.Ile31Ser Uncertain significance Single submitter
- GMDS p.Ile31Val Uncertain significance Single submitter
- GMDS p.Ile53Val Uncertain significance Single submitter
- GMDS p.Ile76Thr Uncertain significance Single submitter
- GMDS p.Lys21Glu Uncertain significance Single submitter
- GMDS p.Pro268Leu Uncertain significance Single submitter
- GMDS p.Pro5Leu Uncertain significance Single submitter
- GMDS p.Pro9Leu Uncertain significance Single submitter
- GMDS p.Thr155Lys Uncertain significance Single submitter
- GMDS p.Thr318Ala Uncertain significance Single submitter
- GMDS p.Thr327Ile Uncertain significance Single submitter
- GMDS p.Tyr185Cys Uncertain significance Single submitter
- GMDS p.Val130Ala Uncertain significance Single submitter
- GMDS p.Val148Met Uncertain significance Single submitter
- GMDS p.Val219Ile Uncertain significance Single submitter
- GMDS p.Val363Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- GMDS p.Ala361Thr Uncertain significance Single submitter
- GMDS p.Asn344Thr Uncertain significance Single submitter
- GMDS p.Asn79Thr Uncertain significance Single submitter
- GMDS p.Glu277Lys Uncertain significance Single submitter
- GMDS p.Gly313Ser Uncertain significance Single submitter
- GMDS p.Met366Ile Uncertain significance Single submitter
- GMDS p.Thr170Ile Uncertain significance Single submitter
- GMDS p.Val127Ile Uncertain significance Single submitter
- GMDS p.Val162Ala Uncertain significance Single submitter
All GMDS variants
Likely benign 1
- p.Pro268= Single submitter
Uncertain significance 43
- p.Ala121Val Single submitter ⚠
- p.Ala125Val Single submitter ⚠
- p.Ala153Thr Single submitter ⚠
- p.Ala2Thr Single submitter ⚠
- p.Ala361Thr Single submitter ⚠
- p.Arg176Gln Single submitter ⚠
- p.Arg282Gln Single submitter
- p.Arg55Trp Single submitter ⚠
- p.Arg56Trp Single submitter ⚠
- p.Arg7Cys Single submitter ⚠
- p.Arg7Leu Single submitter ⚠
- p.Asn24His Single submitter ⚠
- p.Asn344Thr Single submitter ⚠
- p.Asn371Ser Single submitter ⚠
- p.Asn79Thr Single submitter ⚠
- p.Asp266Asn Single submitter ⚠
- p.Gln333Ter Single submitter
- p.Glu267Lys Single submitter ⚠
- p.Glu277Lys Single submitter ⚠
- p.Gly17Ser Single submitter ⚠
- p.Gly313Ser Single submitter ⚠
- p.His3Arg Single submitter ⚠
- p.Ile292Val Single submitter ⚠
- p.Ile31Ser Single submitter ⚠
- p.Ile31Val Single submitter ⚠
- p.Ile53Val Single submitter ⚠
- p.Ile76Thr Single submitter ⚠
- p.Lys21Glu Single submitter ⚠
- p.Met366Ile Single submitter ⚠
- p.Pro268Leu Single submitter ⚠
- p.Pro5Leu Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Thr155Lys Single submitter ⚠
- p.Thr170Ile Single submitter ⚠
- p.Thr318Ala Single submitter ⚠
- p.Thr327Ile Single submitter ⚠
- p.Tyr185Cys Single submitter ⚠
- p.Val127Ile Single submitter ⚠
- p.Val130Ala Single submitter ⚠
- p.Val148Met Single submitter ⚠
- p.Val162Ala Single submitter ⚠
- p.Val219Ile Single submitter ⚠
- p.Val363Met Single submitter ⚠