ASPHD2 — 38 ClinVar variants
All ClinVar germline ASPHD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Likely benign · 37 Uncertain significance
Full ASPHD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASPHD2 p.Ala47Val Uncertain significance Single submitter
- ASPHD2 p.Arg159Gln Uncertain significance Single submitter
- ASPHD2 p.Arg341Gln Uncertain significance Single submitter
- ASPHD2 p.Arg341Trp Uncertain significance Single submitter
- ASPHD2 p.Arg43Lys Uncertain significance Single submitter
- ASPHD2 p.Asn90Ser Uncertain significance Single submitter
- ASPHD2 p.Asn99Ser Uncertain significance Single submitter
- ASPHD2 p.Cys247Gly Uncertain significance Single submitter
- ASPHD2 p.Cys247Tyr Uncertain significance Single submitter
- ASPHD2 p.Cys270Tyr Uncertain significance Single submitter
- ASPHD2 p.Glu112Ala Uncertain significance Single submitter
- ASPHD2 p.Gly153Cys Uncertain significance Single submitter
- ASPHD2 p.Gly308Arg Uncertain significance Single submitter
- ASPHD2 p.His128Pro Uncertain significance Single submitter
- ASPHD2 p.Leu92Phe Uncertain significance Single submitter
- ASPHD2 p.Lys207Thr Uncertain significance Single submitter
- ASPHD2 p.Pro111Ala Uncertain significance Single submitter
- ASPHD2 p.Pro9Leu Uncertain significance Single submitter
- ASPHD2 p.Trp35Cys Uncertain significance Single submitter
- ASPHD2 p.Trp37Arg Uncertain significance Single submitter
- ASPHD2 p.Val89Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- ASPHD2 p.Arg154Trp Uncertain significance Single submitter
- ASPHD2 p.Arg84Trp Uncertain significance Single submitter
- ASPHD2 p.Asn129Ser Uncertain significance Single submitter
- ASPHD2 p.Asn264Ser Uncertain significance Single submitter
- ASPHD2 p.Asp172Asn Uncertain significance Single submitter
- ASPHD2 p.Cys116Gly Uncertain significance Single submitter
- ASPHD2 p.Glu337Gln Uncertain significance Single submitter
- ASPHD2 p.Leu156Arg Uncertain significance Single submitter
- ASPHD2 p.Leu361Val Uncertain significance Single submitter
- ASPHD2 p.Phe326Leu Uncertain significance Single submitter
- ASPHD2 p.Pro340Leu Uncertain significance Single submitter
- ASPHD2 p.Thr223Asn Uncertain significance Single submitter
- ASPHD2 p.Thr230Ile Uncertain significance Single submitter
- ASPHD2 p.Tyr76His Uncertain significance Single submitter
- ASPHD2 p.Val53Met Uncertain significance Single submitter
- ASPHD2 p.Val72Met Uncertain significance Single submitter
All ASPHD2 variants
Likely benign 1
- p.Phe229Val Single submitter
Uncertain significance 37
- p.Ala47Val Single submitter ⚠
- p.Arg154Trp Single submitter ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg341Gln Single submitter ⚠
- p.Arg341Trp Single submitter ⚠
- p.Arg43Lys Single submitter ⚠
- p.Arg84Trp Single submitter ⚠
- p.Asn129Ser Single submitter ⚠
- p.Asn264Ser Single submitter ⚠
- p.Asn90Ser Single submitter ⚠
- p.Asn99Ser Single submitter ⚠
- p.Asp172Asn Single submitter ⚠
- p.Cys116Gly Single submitter ⚠
- p.Cys247Gly Single submitter ⚠
- p.Cys247Tyr Single submitter ⚠
- p.Cys270Tyr Single submitter ⚠
- p.Glu112Ala Single submitter ⚠
- p.Glu337Gln Single submitter ⚠
- p.Gly153Cys Single submitter ⚠
- p.Gly308Arg Single submitter ⚠
- p.His128Pro Single submitter ⚠
- p.Leu156Arg Single submitter ⚠
- p.Leu361Val Single submitter ⚠
- p.Leu92Phe Single submitter ⚠
- p.Lys207Thr Single submitter ⚠
- p.Phe326Leu Single submitter ⚠
- p.Pro111Ala Single submitter ⚠
- p.Pro340Leu Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Thr223Asn Single submitter ⚠
- p.Thr230Ile Single submitter ⚠
- p.Trp35Cys Single submitter ⚠
- p.Trp37Arg Single submitter ⚠
- p.Tyr76His Single submitter ⚠
- p.Val53Met Single submitter ⚠
- p.Val72Met Single submitter ⚠
- p.Val89Ile Single submitter ⚠