ASPHD1 — 58 ClinVar variants
All ClinVar germline ASPHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
58 Uncertain significance
Full ASPHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASPHD1 p.Ala37Pro Uncertain significance Single submitter
- ASPHD1 p.Ala62Thr Uncertain significance Single submitter
- ASPHD1 p.Ala76Asp Uncertain significance Single submitter
- ASPHD1 p.Ala76Thr Uncertain significance Single submitter
- ASPHD1 p.Arg116Leu Uncertain significance Single submitter
- ASPHD1 p.Arg15Leu Uncertain significance Single submitter
- ASPHD1 p.Arg259Gln Uncertain significance Single submitter
- ASPHD1 p.Arg311Trp Uncertain significance Single submitter
- ASPHD1 p.Arg379Cys Uncertain significance Single submitter
- ASPHD1 p.Asp204Glu Uncertain significance Single submitter
- ASPHD1 p.Asp223Asn Uncertain significance Single submitter
- ASPHD1 p.Asp345Asn Uncertain significance Single submitter
- ASPHD1 p.Asp389Glu Uncertain significance Single submitter
- ASPHD1 p.Cys122Phe Uncertain significance Single submitter
- ASPHD1 p.Cys268Arg Uncertain significance Single submitter
- ASPHD1 p.Gln22Glu Uncertain significance Single submitter
- ASPHD1 p.Gln35His Uncertain significance Single submitter
- ASPHD1 p.Glu124Gln Uncertain significance Single submitter
- ASPHD1 p.Glu325Gly Uncertain significance Single submitter
- ASPHD1 p.Gly109Arg Uncertain significance Single submitter
- ASPHD1 p.Gly127Glu Uncertain significance Single submitter
- ASPHD1 p.Gly131Glu Uncertain significance Single submitter
- ASPHD1 p.Gly137Glu Uncertain significance Single submitter
- ASPHD1 p.Gly24Ala Uncertain significance Single submitter
- ASPHD1 p.Gly323Ala Uncertain significance Single submitter
- ASPHD1 p.Gly360Glu Uncertain significance Single submitter
- ASPHD1 p.His315Gln Uncertain significance Single submitter
- ASPHD1 p.Ile366Met Uncertain significance Single submitter
- ASPHD1 p.Met103Thr Uncertain significance Single submitter
- ASPHD1 p.Pro136Leu Uncertain significance Single submitter
- ASPHD1 p.Pro199Arg Uncertain significance Single submitter
- ASPHD1 p.Ser9Gly Uncertain significance Single submitter
- ASPHD1 p.Trp71Cys Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- ASPHD1 p.Ala274Thr Uncertain significance Single submitter
- ASPHD1 p.Ala375Val Uncertain significance Single submitter
- ASPHD1 p.Arg222Trp Uncertain significance Single submitter
- ASPHD1 p.Arg267Gln Uncertain significance Single submitter
- ASPHD1 p.Arg276Ser Uncertain significance Single submitter
- ASPHD1 p.Arg300Trp Uncertain significance Single submitter
- ASPHD1 p.Arg362Gln Uncertain significance Single submitter
- ASPHD1 p.Cys249Gly Uncertain significance Single submitter
- ASPHD1 p.Cys334Trp Uncertain significance Single submitter
- ASPHD1 p.Gln256Lys Uncertain significance Single submitter
- ASPHD1 p.Glu358Lys Uncertain significance Single submitter
- ASPHD1 p.Gly144Val Uncertain significance Single submitter
- ASPHD1 p.Gly248Ala Uncertain significance Single submitter
- ASPHD1 p.Gly298Ala Uncertain significance Single submitter
- ASPHD1 p.Leu69Phe Uncertain significance Single submitter
- ASPHD1 p.Phe384Ser Uncertain significance Single submitter
- ASPHD1 p.Pro236Arg Uncertain significance Single submitter
- ASPHD1 p.Pro238Ser Uncertain significance Single submitter
- ASPHD1 p.Pro361Ser Uncertain significance Single submitter
- ASPHD1 p.Ser216Arg Uncertain significance Single submitter
- ASPHD1 p.Ser356Tyr Uncertain significance Single submitter
- ASPHD1 p.Ser7Asn Uncertain significance Single submitter
- ASPHD1 p.Ser9Ile Uncertain significance Single submitter
- ASPHD1 p.Tyr157Ser Uncertain significance Single submitter
- ASPHD1 p.Val165Met Uncertain significance Single submitter
All ASPHD1 variants
Uncertain significance 58
- p.Ala274Thr Single submitter ⚠
- p.Ala375Val Single submitter ⚠
- p.Ala37Pro Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Ala76Asp Single submitter ⚠
- p.Ala76Thr Single submitter ⚠
- p.Arg116Leu Single submitter ⚠
- p.Arg15Leu Single submitter ⚠
- p.Arg222Trp Single submitter ⚠
- p.Arg259Gln Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg276Ser Single submitter ⚠
- p.Arg300Trp Single submitter ⚠
- p.Arg311Trp Single submitter ⚠
- p.Arg362Gln Single submitter ⚠
- p.Arg379Cys Single submitter ⚠
- p.Asp204Glu Single submitter ⚠
- p.Asp223Asn Single submitter ⚠
- p.Asp345Asn Single submitter ⚠
- p.Asp389Glu Single submitter ⚠
- p.Cys122Phe Single submitter ⚠
- p.Cys249Gly Single submitter ⚠
- p.Cys268Arg Single submitter ⚠
- p.Cys334Trp Single submitter ⚠
- p.Gln22Glu Single submitter ⚠
- p.Gln256Lys Single submitter ⚠
- p.Gln35His Single submitter ⚠
- p.Glu124Gln Single submitter ⚠
- p.Glu325Gly Single submitter ⚠
- p.Glu358Lys Single submitter ⚠
- p.Gly109Arg Single submitter ⚠
- p.Gly127Glu Single submitter ⚠
- p.Gly131Glu Single submitter ⚠
- p.Gly137Glu Single submitter ⚠
- p.Gly144Val Single submitter ⚠
- p.Gly248Ala Single submitter ⚠
- p.Gly24Ala Single submitter ⚠
- p.Gly298Ala Single submitter ⚠
- p.Gly323Ala Single submitter ⚠
- p.Gly360Glu Single submitter ⚠
- p.His315Gln Single submitter ⚠
- p.Ile366Met Single submitter ⚠
- p.Leu69Phe Single submitter ⚠
- p.Met103Thr Single submitter ⚠
- p.Phe384Ser Single submitter ⚠
- p.Pro136Leu Single submitter ⚠
- p.Pro199Arg Single submitter ⚠
- p.Pro236Arg Single submitter ⚠
- p.Pro238Ser Single submitter ⚠
- p.Pro361Ser Single submitter ⚠
- p.Ser216Arg Single submitter ⚠
- p.Ser356Tyr Single submitter ⚠
- p.Ser7Asn Single submitter ⚠
- p.Ser9Gly Single submitter ⚠
- p.Ser9Ile Single submitter ⚠
- p.Trp71Cys Single submitter ⚠
- p.Tyr157Ser Single submitter ⚠
- p.Val165Met Single submitter ⚠