AHSA1 — 40 ClinVar variants
All ClinVar germline AHSA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →
7 Benign · 3 Likely benign · 30 Uncertain significance
Full AHSA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 31
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AHSA1 p.Ala17Thr Uncertain significance Single submitter
- AHSA1 p.Asn34His Uncertain significance Single submitter
- AHSA1 p.Gln317Glu Uncertain significance Single submitter
- AHSA1 p.Glu221Lys Uncertain significance Single submitter
- AHSA1 p.Gly54Ser Uncertain significance Single submitter
- AHSA1 p.Gly96Arg Uncertain significance Single submitter
- AHSA1 p.His269Tyr Uncertain significance Single submitter
- AHSA1 p.Phe235Cys Uncertain significance Single submitter
- AHSA1 p.Thr210Ser Uncertain significance Single submitter
- AHSA1 p.Val133Leu Uncertain significance Single submitter
- AHSA1 p.Val257Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- AHSA1 p.Val133Ala Likely benign Multiple submitters
- AHSA1 p.Ala124Val Uncertain significance Single submitter
- AHSA1 p.Ala147Thr Uncertain significance Single submitter
- AHSA1 p.Ala234Ser Uncertain significance Single submitter
- AHSA1 p.Arg186Cys Uncertain significance Single submitter
- AHSA1 p.Arg321Trp Uncertain significance Single submitter
- AHSA1 p.Asn256Ser Uncertain significance Single submitter
- AHSA1 p.Asp263Asn Uncertain significance Single submitter
- AHSA1 p.Asp293Asn Uncertain significance Single submitter
- AHSA1 p.Gln317Arg Uncertain significance Single submitter
- AHSA1 p.Gln317His Uncertain significance Single submitter
- AHSA1 p.Lys100Arg Uncertain significance Single submitter
- AHSA1 p.Thr214Asn Uncertain significance Single submitter
- AHSA1 p.Thr286Ala Uncertain significance Single submitter
- AHSA1 p.Thr330Ser Uncertain significance Single submitter
- AHSA1 p.Thr92Ile Uncertain significance Single submitter
- AHSA1 p.Val114Met Uncertain significance Single submitter
- AHSA1 p.Val133Met Uncertain significance Single submitter
- AHSA1 p.Val232Ala Uncertain significance Single submitter
- AHSA1 p.Val232Leu Uncertain significance Single submitter
All AHSA1 variants
Benign 7
- c.561+5A>G Multiple submitters
- c.690+7A>C Single submitter
- p.Gln98= Single submitter
- p.Ile105= Single submitter
- p.Leu45= Single submitter
- p.Thr315= Single submitter
- p.Val232= Single submitter
Likely benign 3
- p.Val133Ala Multiple submitters ⚠
- c.691-6dup Single submitter
- p.Asp38Glu Single submitter
Uncertain significance 30
- p.Ala124Val Single submitter ⚠
- p.Ala147Thr Single submitter ⚠
- p.Ala17Thr Single submitter ⚠
- p.Ala234Ser Single submitter ⚠
- p.Arg186Cys Single submitter ⚠
- p.Arg321Trp Single submitter ⚠
- p.Asn256Ser Single submitter ⚠
- p.Asn34His Single submitter ⚠
- p.Asp263Asn Single submitter ⚠
- p.Asp293Asn Single submitter ⚠
- p.Gln317Arg Single submitter ⚠
- p.Gln317Glu Single submitter ⚠
- p.Gln317His Single submitter ⚠
- p.Glu221Lys Single submitter ⚠
- p.Gly54Ser Single submitter ⚠
- p.Gly96Arg Single submitter ⚠
- p.His269Tyr Single submitter ⚠
- p.Lys100Arg Single submitter ⚠
- p.Phe235Cys Single submitter ⚠
- p.Thr210Ser Single submitter ⚠
- p.Thr214Asn Single submitter ⚠
- p.Thr286Ala Single submitter ⚠
- p.Thr330Ser Single submitter ⚠
- p.Thr92Ile Single submitter ⚠
- p.Val114Met Single submitter ⚠
- p.Val133Leu Single submitter ⚠
- p.Val133Met Single submitter ⚠
- p.Val232Ala Single submitter ⚠
- p.Val232Leu Single submitter ⚠
- p.Val257Ile Single submitter ⚠