ASIP — 22 ClinVar variants
All ClinVar germline ASIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
6 Likely benign · 16 Uncertain significance
Full ASIP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASIP p.Ala77Asp Uncertain significance Single submitter
- ASIP p.Arg34Lys Uncertain significance Single submitter
- ASIP p.Asn21Ser Uncertain significance Single submitter
- ASIP p.Asn39Ile Uncertain significance Single submitter
- ASIP p.Ile62Asn Uncertain significance Single submitter
- ASIP p.Leu45Pro Uncertain significance Single submitter
- ASIP p.Lys75Glu Uncertain significance Single submitter
- ASIP p.Met79Ile Uncertain significance Single submitter
- ASIP p.Ser40Thr Uncertain significance Single submitter
- ASIP p.Ser72Pro Uncertain significance Single submitter
- ASIP p.Val3Ile Uncertain significance Single submitter
- ASIP p.Val42Leu Uncertain significance Single submitter
- ASIP p.Val82Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All ASIP variants
Likely benign 6
- p.Gln61Lys Single submitter
- p.Pro88= Single submitter
- c.223-4G>A No assertion criteria ASIP-related condition
- p.Asn39= No assertion criteria ASIP-related condition
- p.Ile62= No assertion criteria ASIP-related condition
- p.Phe119= No assertion criteria ASIP-related condition
Uncertain significance 16
- p.Ala77Asp Single submitter ⚠
- p.Ala9Asp Single submitter ⚠
- p.Arg34Lys Single submitter ⚠
- p.Arg5His Single submitter ⚠
- p.Asn21Ser Single submitter ⚠
- p.Asn39Ile Single submitter ⚠
- p.Ile62Asn Single submitter ⚠
- p.Leu45Pro Single submitter ⚠
- p.Lys75Glu Single submitter ⚠
- p.Met79Ile Single submitter ⚠
- p.Ser40Thr Single submitter ⚠
- p.Ser72Pro Single submitter ⚠
- p.Ser99Arg Single submitter ⚠
- p.Val3Ile Single submitter ⚠
- p.Val42Leu Single submitter ⚠
- p.Val82Ala Single submitter ⚠