GPD2 — 104 ClinVar variants
All ClinVar germline GPD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
1 Pathogenic · 3 Conflicting · 1 Benign · 8 Likely benign · 91 Uncertain significance
Full GPD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- GPD2 p.Ala499Thr Conflicting Single submitter
-
GPD2 p.Ile75Val
Conflicting
Single submitter
type 2 diabetes mellitus
-
GPD2 p.Pro205Leu
Conflicting
Single submitter
type 2 diabetes mellitus
Predictors lean, ClinVar uncertain 75
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GPD2 p.Asn224Lys
Uncertain significance
Multiple submitters
type 2 diabetes mellitus
- GPD2 p.Ala233Pro Uncertain significance Single submitter
- GPD2 p.Ala305Thr Uncertain significance Single submitter
- GPD2 p.Ala512Ser Uncertain significance Single submitter
- GPD2 p.Ala569Val Uncertain significance Single submitter
- GPD2 p.Ala6Thr Uncertain significance Single submitter
- GPD2 p.Ala88Val Uncertain significance Single submitter
- GPD2 p.Arg120Gly Uncertain significance Single submitter
- GPD2 p.Arg144Cys Uncertain significance Single submitter
- GPD2 p.Arg298Cys Uncertain significance Single submitter
- GPD2 p.Arg298His Uncertain significance Single submitter
- GPD2 p.Arg391Gly Uncertain significance Single submitter
- GPD2 p.Arg402His Uncertain significance Single submitter
- GPD2 p.Arg441Gln Uncertain significance Single submitter
- GPD2 p.Arg441Leu Uncertain significance Single submitter
- GPD2 p.Arg441Trp Uncertain significance Single submitter
- GPD2 p.Arg525Cys Uncertain significance Single submitter
- GPD2 p.Arg554Cys Uncertain significance Single submitter
- GPD2 p.Arg555His Uncertain significance Single submitter
- GPD2 p.Arg557Cys Uncertain significance Single submitter
- GPD2 p.Arg557Leu Uncertain significance Single submitter
- GPD2 p.Arg608Gln Uncertain significance Single submitter
- GPD2 p.Arg695Ser Uncertain significance Single submitter
- GPD2 p.Arg700Trp Uncertain significance Single submitter
- GPD2 p.Asn146Ser Uncertain significance Single submitter
- GPD2 p.Asn373Ser Uncertain significance Single submitter
- GPD2 p.Asp225Asn Uncertain significance Single submitter
- GPD2 p.Asp304Gly Uncertain significance Single submitter
- GPD2 p.Asp713Asn Uncertain significance Single submitter
- GPD2 p.Cys270Ser Uncertain significance Single submitter
- GPD2 p.Gln208Arg Uncertain significance Single submitter
- GPD2 p.Gln26Glu Uncertain significance Single submitter
- GPD2 p.Gln414Glu Uncertain significance Single submitter
- GPD2 p.Gln495Glu Uncertain significance Single submitter
- GPD2 p.Glu492Lys Uncertain significance Single submitter
- GPD2 p.Glu507Gly Uncertain significance Single submitter
- GPD2 p.Gly185Glu Uncertain significance Single submitter
- GPD2 p.Gly23Val Uncertain significance Single submitter
- GPD2 p.Gly578Cys Uncertain significance Single submitter
- GPD2 p.Gly698Ala Uncertain significance Single submitter
- GPD2 p.Gly78Glu Uncertain significance Single submitter
- GPD2 p.His29Tyr Uncertain significance Single submitter
- GPD2 p.His316Leu Uncertain significance Single submitter
- GPD2 p.Ile177Val Uncertain significance Single submitter
- GPD2 p.Ile287Thr Uncertain significance Single submitter
- GPD2 p.Ile308Asn Uncertain significance Single submitter
- GPD2 p.Ile372Thr Uncertain significance Single submitter
- GPD2 p.Ile416Val Uncertain significance Single submitter
- GPD2 p.Ile573Thr Uncertain significance Single submitter
- GPD2 p.Ile75Phe Uncertain significance Single submitter
- GPD2 p.Leu253Pro Uncertain significance Single submitter
- GPD2 p.Leu37Pro Uncertain significance Single submitter
- GPD2 p.Leu592Val Uncertain significance Single submitter
- GPD2 p.Lys178Met Uncertain significance Single submitter
- GPD2 p.Lys211Arg Uncertain significance Single submitter
- GPD2 p.Lys41Thr Uncertain significance Single submitter
- GPD2 p.Met206Val Uncertain significance Single submitter
- GPD2 p.Met319Thr Uncertain significance Single submitter
- GPD2 p.Met511Ile Uncertain significance Single submitter
- GPD2 p.Pro292Leu Uncertain significance Single submitter
- GPD2 p.Pro333Thr Uncertain significance Single submitter
- GPD2 p.Pro520Arg Uncertain significance Single submitter
- GPD2 p.Ser616Pro Uncertain significance Single submitter
- GPD2 p.Thr256Ile Uncertain significance Single submitter
- GPD2 p.Thr294Arg Uncertain significance Single submitter
- GPD2 p.Thr350Met Uncertain significance Single submitter
- GPD2 p.Thr500Pro Uncertain significance Single submitter
- GPD2 p.Tyr218Cys Uncertain significance Single submitter
- GPD2 p.Tyr605Cys Uncertain significance Single submitter
- GPD2 p.Val281Met Uncertain significance Single submitter
- GPD2 p.Val394Ile Uncertain significance Single submitter
- GPD2 p.Val549Met Uncertain significance Single submitter
- GPD2 p.Val89Ile Uncertain significance Single submitter
- GPD2 p.Val98Leu Uncertain significance Single submitter
- GPD2 p.Val716Ile Uncertain significance No assertion criteria
Predictors split 14
The independent predictors disagree with each other — read with care.
- GPD2 p.Ala85Val Uncertain significance Single submitter
- GPD2 p.Arg269Gln Uncertain significance Single submitter
- GPD2 p.Arg390Ser Uncertain significance Single submitter
- GPD2 p.Asp101Glu Uncertain significance Single submitter
- GPD2 p.Glu602Asp Uncertain significance Single submitter
- GPD2 p.Ile481Val Uncertain significance Single submitter
- GPD2 p.Leu479Ile Uncertain significance Single submitter
- GPD2 p.Lys190Asn Uncertain significance Single submitter
- GPD2 p.Lys588Asn Uncertain significance Single submitter
- GPD2 p.Met136Ile Uncertain significance Single submitter
- GPD2 p.Ser327Ile Uncertain significance Single submitter
- GPD2 p.Ser336Gly Uncertain significance Single submitter
- GPD2 p.Thr10Met Uncertain significance Single submitter
- GPD2 p.Thr644Asn Uncertain significance Single submitter
All GPD2 variants
Pathogenic 1
- p.Phe635Ser No assertion criteria type 2 diabetes mellitus
Conflicting classifications of pathogenicity 3
- p.Ala499Thr Single submitter ⚠
- p.Ile75Val Single submitter type 2 diabetes mellitus ⚠
- p.Pro205Leu Single submitter type 2 diabetes mellitus ⚠
Benign 1
- p.Val194Ile No assertion criteria GPD2-related disorder
Likely benign 8
- p.Ile308Val Multiple submitters
- p.Lys284= Single submitter
- p.Tyr121= Single submitter
- p.Val484= Single submitter
- p.Cys45= No assertion criteria GPD2-related disorder
- p.Leu576Val No assertion criteria GPD2-related disorder
- p.Pro408= No assertion criteria GPD2-related disorder
- p.Tyr193= No assertion criteria GPD2-related disorder
Uncertain significance 91
- p.Asn224Lys Multiple submitters type 2 diabetes mellitus ⚠
- c.497+5G>A Single submitter GPD2-related disorder
- p.Ala233Pro Single submitter ⚠
- p.Ala305Thr Single submitter ⚠
- p.Ala512Ser Single submitter ⚠
- p.Ala565Ser Single submitter
- p.Ala569Val Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Ala85Val Single submitter ⚠
- p.Ala88Val Single submitter ⚠
- p.Arg120Gly Single submitter ⚠
- p.Arg144Cys Single submitter ⚠
- p.Arg269Gln Single submitter ⚠
- p.Arg298Cys Single submitter ⚠
- p.Arg298His Single submitter ⚠
- p.Arg390Ser Single submitter ⚠
- p.Arg391Gly Single submitter ⚠
- p.Arg402His Single submitter ⚠
- p.Arg441Gln Single submitter ⚠
- p.Arg441Leu Single submitter ⚠
- p.Arg441Trp Single submitter ⚠
- p.Arg525Cys Single submitter ⚠
- p.Arg554Cys Single submitter ⚠
- p.Arg555His Single submitter ⚠
- p.Arg557Cys Single submitter ⚠
- p.Arg557Leu Single submitter ⚠
- p.Arg608Gln Single submitter ⚠
- p.Arg695Ser Single submitter ⚠
- p.Arg700Trp Single submitter ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asn373Ser Single submitter ⚠
- p.Asp101Glu Single submitter ⚠
- p.Asp225Asn Single submitter ⚠
- p.Asp304Gly Single submitter ⚠
- p.Asp713Asn Single submitter ⚠
- p.Cys270Ser Single submitter ⚠
- p.Gln208Arg Single submitter ⚠
- p.Gln26Glu Single submitter ⚠
- p.Gln414Glu Single submitter ⚠
- p.Gln495Glu Single submitter ⚠
- p.Glu492Lys Single submitter ⚠
- p.Glu507Gly Single submitter ⚠
- p.Glu602Asp Single submitter ⚠
- p.Gly185Glu Single submitter ⚠
- p.Gly23Val Single submitter ⚠
- p.Gly578Cys Single submitter ⚠
- p.Gly698Ala Single submitter ⚠
- p.Gly78Glu Single submitter ⚠
- p.His29Tyr Single submitter ⚠
- p.His316Leu Single submitter ⚠
- p.Ile177Val Single submitter ⚠
- p.Ile287Thr Single submitter ⚠
- p.Ile308Asn Single submitter ⚠
- p.Ile372Thr Single submitter ⚠
- p.Ile416Val Single submitter ⚠
- p.Ile481Val Single submitter ⚠
- p.Ile573Thr Single submitter ⚠
- p.Ile75Phe Single submitter ⚠
- p.Leu253Pro Single submitter ⚠
- p.Leu37Pro Single submitter ⚠
- p.Leu479Ile Single submitter ⚠
- p.Leu592Val Single submitter ⚠
- p.Lys178Met Single submitter ⚠
- p.Lys190Asn Single submitter ⚠
- p.Lys211Arg Single submitter ⚠
- p.Lys41Thr Single submitter ⚠
- p.Lys588Asn Single submitter ⚠
- p.Met136Ile Single submitter ⚠
- p.Met206Val Single submitter ⚠
- p.Met319Thr Single submitter ⚠
- p.Met511Ile Single submitter ⚠
- p.Pro292Leu Single submitter ⚠
- p.Pro333Thr Single submitter ⚠
- p.Pro520Arg Single submitter ⚠
- p.Ser327Ile Single submitter ⚠
- p.Ser336Gly Single submitter ⚠
- p.Ser616Pro Single submitter ⚠
- p.Thr10Met Single submitter ⚠
- p.Thr256Ile Single submitter ⚠
- p.Thr294Arg Single submitter ⚠
- p.Thr350Met Single submitter ⚠
- p.Thr500Pro Single submitter ⚠
- p.Thr644Asn Single submitter ⚠
- p.Tyr218Cys Single submitter ⚠
- p.Tyr605Cys Single submitter ⚠
- p.Val281Met Single submitter ⚠
- p.Val394Ile Single submitter ⚠
- p.Val549Met Single submitter ⚠
- p.Val89Ile Single submitter ⚠
- p.Val98Leu Single submitter ⚠
- p.Val716Ile No assertion criteria ⚠