ASPDH — 58 ClinVar variants
All ClinVar germline ASPDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
2 Likely benign · 56 Uncertain significance
Full ASPDH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASPDH p.Ala139Glu Uncertain significance Single submitter
- ASPDH p.Ala195Glu Uncertain significance Single submitter
- ASPDH p.Ala241Thr Uncertain significance Single submitter
- ASPDH p.Ala85Glu Uncertain significance Single submitter
- ASPDH p.Arg158Gln Uncertain significance Single submitter
- ASPDH p.Arg16His Uncertain significance Single submitter
- ASPDH p.Arg238Gln Uncertain significance Single submitter
- ASPDH p.Cys272Arg Uncertain significance Single submitter
- ASPDH p.Gln19Arg Uncertain significance Single submitter
- ASPDH p.Gln28Arg Uncertain significance Single submitter
- ASPDH p.Glu251Asp Uncertain significance Single submitter
- ASPDH p.Gly10Arg Uncertain significance Single submitter
- ASPDH p.Gly141Arg Uncertain significance Single submitter
- ASPDH p.Gly142Ser Uncertain significance Single submitter
- ASPDH p.Gly231Arg Uncertain significance Single submitter
- ASPDH p.Leu229Pro Uncertain significance Single submitter
- ASPDH p.Leu88Pro Uncertain significance Single submitter
- ASPDH p.Met150Arg Uncertain significance Single submitter
- ASPDH p.Pro68Arg Uncertain significance Single submitter
- ASPDH p.Thr193Pro Uncertain significance Single submitter
- ASPDH p.Thr220Arg Uncertain significance Single submitter
- ASPDH p.Thr262Met Uncertain significance Single submitter
- ASPDH p.Val74Leu Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- ASPDH p.Ala120Thr Uncertain significance Single submitter
- ASPDH p.Ala127Thr Uncertain significance Single submitter
- ASPDH p.Ala131Thr Likely benign Single submitter
- ASPDH p.Ala187Val Uncertain significance Single submitter
- ASPDH p.Arg16Gly Uncertain significance Single submitter
- ASPDH p.Arg181His Uncertain significance Single submitter
- ASPDH p.Arg245Leu Uncertain significance Single submitter
- ASPDH p.Arg42Cys Uncertain significance Single submitter
- ASPDH p.Arg42His Uncertain significance Single submitter
- ASPDH p.Arg42Leu Uncertain significance Single submitter
- ASPDH p.Arg46Pro Uncertain significance Single submitter
- ASPDH p.Asp216His Uncertain significance Single submitter
- ASPDH p.Asp43Glu Uncertain significance Single submitter
- ASPDH p.Asp43Tyr Uncertain significance Single submitter
- ASPDH p.Asp69Ala Uncertain significance Single submitter
- ASPDH p.Glu132Lys Uncertain significance Single submitter
- ASPDH p.Glu247Lys Uncertain significance Single submitter
- ASPDH p.Gly211Arg Uncertain significance Single submitter
- ASPDH p.His153Gln Uncertain significance Single submitter
- ASPDH p.Leu26Phe Uncertain significance Single submitter
- ASPDH p.Leu55Pro Uncertain significance Single submitter
- ASPDH p.Met47Thr Uncertain significance Single submitter
- ASPDH p.Pro171Leu Uncertain significance Single submitter
- ASPDH p.Pro202Ala Uncertain significance Single submitter
- ASPDH p.Pro202Ser Uncertain significance Single submitter
- ASPDH p.Pro232Thr Uncertain significance Single submitter
- ASPDH p.Pro249Leu Uncertain significance Single submitter
- ASPDH p.Ser114Leu Uncertain significance Single submitter
- ASPDH p.Thr105Pro Uncertain significance Single submitter
- ASPDH p.Thr262Lys Uncertain significance Single submitter
- ASPDH p.Val174Ala Uncertain significance Single submitter
- ASPDH p.Val51Leu Uncertain significance Single submitter
- ASPDH p.Val51Met Uncertain significance Single submitter
- ASPDH p.Val71Leu Uncertain significance Single submitter
All ASPDH variants
Likely benign 2
- p.Ala131Thr Single submitter ⚠
- p.Arg67His Single submitter
Uncertain significance 56
- p.Ala120Thr Single submitter ⚠
- p.Ala127Thr Single submitter ⚠
- p.Ala139Glu Single submitter ⚠
- p.Ala187Val Single submitter ⚠
- p.Ala195Glu Single submitter ⚠
- p.Ala241Thr Single submitter ⚠
- p.Ala85Glu Single submitter ⚠
- p.Arg158Gln Single submitter ⚠
- p.Arg16Gly Single submitter ⚠
- p.Arg16His Single submitter ⚠
- p.Arg181His Single submitter ⚠
- p.Arg238Gln Single submitter ⚠
- p.Arg245Leu Single submitter ⚠
- p.Arg42Cys Single submitter ⚠
- p.Arg42His Single submitter ⚠
- p.Arg42Leu Single submitter ⚠
- p.Arg46Pro Single submitter ⚠
- p.Asp216His Single submitter ⚠
- p.Asp43Glu Single submitter ⚠
- p.Asp43Tyr Single submitter ⚠
- p.Asp69Ala Single submitter ⚠
- p.Cys272Arg Single submitter ⚠
- p.Gln19Arg Single submitter ⚠
- p.Gln28Arg Single submitter ⚠
- p.Glu132Lys Single submitter ⚠
- p.Glu247Lys Single submitter ⚠
- p.Glu251Asp Single submitter ⚠
- p.Gly10Arg Single submitter ⚠
- p.Gly141Arg Single submitter ⚠
- p.Gly142Ser Single submitter ⚠
- p.Gly211Arg Single submitter ⚠
- p.Gly231Arg Single submitter ⚠
- p.His153Gln Single submitter ⚠
- p.Leu229Pro Single submitter ⚠
- p.Leu26Phe Single submitter ⚠
- p.Leu55Pro Single submitter ⚠
- p.Leu88Pro Single submitter ⚠
- p.Met150Arg Single submitter ⚠
- p.Met47Thr Single submitter ⚠
- p.Pro171Leu Single submitter ⚠
- p.Pro202Ala Single submitter ⚠
- p.Pro202Ser Single submitter ⚠
- p.Pro232Thr Single submitter ⚠
- p.Pro249Leu Single submitter ⚠
- p.Pro68Arg Single submitter ⚠
- p.Ser114Leu Single submitter ⚠
- p.Thr105Pro Single submitter ⚠
- p.Thr193Pro Single submitter ⚠
- p.Thr220Arg Single submitter ⚠
- p.Thr262Lys Single submitter ⚠
- p.Thr262Met Single submitter ⚠
- p.Val174Ala Single submitter ⚠
- p.Val51Leu Single submitter ⚠
- p.Val51Met Single submitter ⚠
- p.Val71Leu Single submitter ⚠
- p.Val74Leu Single submitter ⚠