GSDMD — 105 ClinVar variants
All ClinVar germline GSDMD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 87 flagged for review →
6 Benign · 10 Likely benign · 89 Uncertain significance
Full GSDMD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 87
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 77
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GSDMD p.Ala215Thr Uncertain significance Single submitter
- GSDMD p.Ala244Val Uncertain significance Single submitter
- GSDMD p.Ala255Thr Uncertain significance Single submitter
- GSDMD p.Ala279Val Uncertain significance Single submitter
- GSDMD p.Ala282Val Uncertain significance Single submitter
- GSDMD p.Ala325Val Uncertain significance Single submitter
- GSDMD p.Ala328Thr Uncertain significance Single submitter
- GSDMD p.Ala413Val Uncertain significance Single submitter
- GSDMD p.Ala436Thr Uncertain significance Single submitter
- GSDMD p.Ala462Thr Uncertain significance Single submitter
- GSDMD p.Ala462Val Uncertain significance Single submitter
- GSDMD p.Ala474Val Uncertain significance Single submitter
- GSDMD p.Ala69Gly Uncertain significance Single submitter
- GSDMD p.Ala70Val Uncertain significance Single submitter
- GSDMD p.Ala98Thr Uncertain significance Single submitter
- GSDMD p.Arg10Gln Uncertain significance Single submitter
- GSDMD p.Arg140Leu Uncertain significance Single submitter
- GSDMD p.Arg178Trp Uncertain significance Single submitter
- GSDMD p.Arg249Cys Uncertain significance Single submitter
- GSDMD p.Arg291Trp Uncertain significance Single submitter
- GSDMD p.Arg321Gln Uncertain significance Single submitter
- GSDMD p.Arg321Trp Uncertain significance Single submitter
- GSDMD p.Arg418His Uncertain significance Single submitter
- GSDMD p.Arg76His Uncertain significance Single submitter
- GSDMD p.Asn271Ser Uncertain significance Single submitter
- GSDMD p.Asn58Ser Uncertain significance Single submitter
- GSDMD p.Asp443Asn Uncertain significance Single submitter
- GSDMD p.Asp84Asn Uncertain significance Single submitter
- GSDMD p.Cys38Arg Uncertain significance Single submitter
- GSDMD p.Glu253Lys Uncertain significance Single submitter
- GSDMD p.Glu366Ala Uncertain significance Single submitter
- GSDMD p.Glu394Ala Uncertain significance Single submitter
- GSDMD p.Glu444Gly Uncertain significance Single submitter
- GSDMD p.Glu459Gln Uncertain significance Single submitter
- GSDMD p.Gly188Arg Uncertain significance Single submitter
- GSDMD p.Gly426Arg Uncertain significance Single submitter
- GSDMD p.Gly426Glu Uncertain significance Single submitter
- GSDMD p.Gly446Asp Uncertain significance Single submitter
- GSDMD p.Gly450Arg Uncertain significance Single submitter
- GSDMD p.His18Tyr Uncertain significance Single submitter
- GSDMD p.His386Gln Uncertain significance Single submitter
- GSDMD p.Leu227Phe Uncertain significance Single submitter
- GSDMD p.Leu227Val Uncertain significance Single submitter
- GSDMD p.Leu263Phe Uncertain significance Single submitter
- GSDMD p.Leu358Val Uncertain significance Single submitter
- GSDMD p.Leu374Met Uncertain significance Single submitter
- GSDMD p.Lys103Asn Uncertain significance Single submitter
- GSDMD p.Lys235Thr Uncertain significance Single submitter
- GSDMD p.Met118Val Uncertain significance Single submitter
- GSDMD p.Met362Lys Uncertain significance Single submitter
- GSDMD p.Met466Val Uncertain significance Single submitter
- GSDMD p.Pro187Leu Uncertain significance Single submitter
- GSDMD p.Pro209Thr Uncertain significance Single submitter
- GSDMD p.Pro233Leu Uncertain significance Single submitter
- GSDMD p.Pro260Leu Uncertain significance Single submitter
- GSDMD p.Pro341Ser Uncertain significance Single submitter
- GSDMD p.Pro365Leu Uncertain significance Single submitter
- GSDMD p.Pro437Leu Uncertain significance Single submitter
- GSDMD p.Pro52Ser Uncertain significance Single submitter
- GSDMD p.Ser122Leu Uncertain significance Single submitter
- GSDMD p.Ser252Asn Uncertain significance Single submitter
- GSDMD p.Ser395Leu Uncertain significance Single submitter
- GSDMD p.Ser3Leu Uncertain significance Single submitter
- GSDMD p.Thr173Arg Uncertain significance Single submitter
- GSDMD p.Thr173Met Uncertain significance Single submitter
- GSDMD p.Thr190Lys Uncertain significance Single submitter
- GSDMD p.Thr251Lys Uncertain significance Single submitter
- GSDMD p.Thr251Met Uncertain significance Single submitter
- GSDMD p.Thr274Arg Uncertain significance Single submitter
- GSDMD p.Thr384Met Uncertain significance Single submitter
- GSDMD p.Val157Leu Uncertain significance Single submitter
- GSDMD p.Val159Met Uncertain significance Single submitter
- GSDMD p.Val229Phe Uncertain significance Single submitter
- GSDMD p.Val294Leu Uncertain significance Single submitter
- GSDMD p.Val319Leu Uncertain significance Single submitter
- GSDMD p.Val456Leu Uncertain significance Single submitter
- GSDMD p.Val94Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- GSDMD p.Ala390Val Uncertain significance Single submitter
- GSDMD p.Arg217Trp Uncertain significance Single submitter
- GSDMD p.Cys309Tyr Uncertain significance Single submitter
- GSDMD p.Glu444Lys Uncertain significance Single submitter
- GSDMD p.Gly347Asp Uncertain significance Single submitter
- GSDMD p.Leu329Val Uncertain significance Single submitter
- GSDMD p.Phe240Ser Uncertain significance Single submitter
- GSDMD p.Pro67Leu Uncertain significance Single submitter
- GSDMD p.Ser359Phe Uncertain significance Single submitter
- GSDMD p.Val456Met Uncertain significance Single submitter
All GSDMD variants
Benign 6
- p.Arg249His Multiple submitters
- p.Gln396Arg Multiple submitters
- p.Ser3= Multiple submitters
- p.Thr453Ala Multiple submitters
- c.410+13AGGGC[5] Single submitter
- p.Glu403Lys Single submitter
Likely benign 10
- p.Arg7= Multiple submitters
- p.Ala255Ser Single submitter
- p.Arg140Gln Single submitter
- p.Arg178Gln Single submitter
- p.Leu311Gln Single submitter
- p.Met266Lys Single submitter
- p.Pro365= Single submitter
- p.Pro414= Single submitter
- p.Thr213Ile Single submitter
- p.Thr251= Single submitter
Uncertain significance 89
- p.Ala215Thr Single submitter ⚠
- p.Ala244Val Single submitter ⚠
- p.Ala255Thr Single submitter ⚠
- p.Ala279Val Single submitter ⚠
- p.Ala282Val Single submitter ⚠
- p.Ala325Val Single submitter ⚠
- p.Ala328Thr Single submitter ⚠
- p.Ala390Val Single submitter ⚠
- p.Ala413Val Single submitter ⚠
- p.Ala436Thr Single submitter ⚠
- p.Ala462Thr Single submitter ⚠
- p.Ala462Val Single submitter ⚠
- p.Ala474Val Single submitter ⚠
- p.Ala69Gly Single submitter ⚠
- p.Ala70Val Single submitter ⚠
- p.Ala98Thr Single submitter ⚠
- p.Arg10Gln Single submitter ⚠
- p.Arg140Leu Single submitter ⚠
- p.Arg178Trp Single submitter ⚠
- p.Arg217Trp Single submitter ⚠
- p.Arg249Cys Single submitter ⚠
- p.Arg291Trp Single submitter ⚠
- p.Arg321Gln Single submitter ⚠
- p.Arg321Trp Single submitter ⚠
- p.Arg418His Single submitter ⚠
- p.Arg76His Single submitter ⚠
- p.Asn271Ser Single submitter ⚠
- p.Asn58Ser Single submitter ⚠
- p.Asp443Asn Single submitter ⚠
- p.Asp84Asn Single submitter ⚠
- p.Cys309Tyr Single submitter ⚠
- p.Cys38Arg Single submitter ⚠
- p.Glu253Lys Single submitter ⚠
- p.Glu366Ala Single submitter ⚠
- p.Glu394Ala Single submitter ⚠
- p.Glu444Gly Single submitter ⚠
- p.Glu444Lys Single submitter ⚠
- p.Glu459Gln Single submitter ⚠
- p.Gly188Arg Single submitter ⚠
- p.Gly347Asp Single submitter ⚠
- p.Gly426Arg Single submitter ⚠
- p.Gly426Glu Single submitter ⚠
- p.Gly446Asp Single submitter ⚠
- p.Gly450Arg Single submitter ⚠
- p.His18Tyr Single submitter ⚠
- p.His386Gln Single submitter ⚠
- p.Leu227Phe Single submitter ⚠
- p.Leu227Val Single submitter ⚠
- p.Leu263Phe Single submitter ⚠
- p.Leu329Val Single submitter ⚠
- p.Leu358Val Single submitter ⚠
- p.Leu374Met Single submitter ⚠
- p.Leu59Arg Single submitter
- p.Lys103Asn Single submitter ⚠
- p.Lys235Thr Single submitter ⚠
- p.Met118Val Single submitter ⚠
- p.Met362Lys Single submitter ⚠
- p.Met466Val Single submitter ⚠
- p.Phe240Ser Single submitter ⚠
- p.Pro187Leu Single submitter ⚠
- p.Pro209Thr Single submitter ⚠
- p.Pro233Leu Single submitter ⚠
- p.Pro260Leu Single submitter ⚠
- p.Pro341Ser Single submitter ⚠
- p.Pro365Leu Single submitter ⚠
- p.Pro437Leu Single submitter ⚠
- p.Pro52Ser Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Ser122Leu Single submitter ⚠
- p.Ser212Ile Single submitter
- p.Ser252Asn Single submitter ⚠
- p.Ser359Phe Single submitter ⚠
- p.Ser395Leu Single submitter ⚠
- p.Ser3Leu Single submitter ⚠
- p.Thr173Arg Single submitter ⚠
- p.Thr173Met Single submitter ⚠
- p.Thr190Lys Single submitter ⚠
- p.Thr251Lys Single submitter ⚠
- p.Thr251Met Single submitter ⚠
- p.Thr274Arg Single submitter ⚠
- p.Thr384Met Single submitter ⚠
- p.Val157Leu Single submitter ⚠
- p.Val159Met Single submitter ⚠
- p.Val229Phe Single submitter ⚠
- p.Val294Leu Single submitter ⚠
- p.Val319Leu Single submitter ⚠
- p.Val456Leu Single submitter ⚠
- p.Val456Met Single submitter ⚠
- p.Val94Met Single submitter ⚠