AHSP — 20 ClinVar variants

All ClinVar germline AHSP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →

1 Benign · 1 Benign/Likely benign · 2 Likely benign · 16 Uncertain significance

Full AHSP 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 11

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 5

The independent predictors disagree with each other — read with care.

All AHSP variants

Benign 1

p.Leu77= Single submitter

Benign/Likely benign 1

p.Pro100Thr Multiple submitters

Likely benign 2

p.Asn46= Single submitter
p.Leu21= Single submitter

Uncertain significance 16

p.Ala13Pro Single submitter ⚠
p.Ala6Ser Single submitter ⚠
p.Asn46Asp Single submitter ⚠
p.Asn75Ile Single submitter ⚠
p.Asp43Gly Single submitter ⚠
p.Asp64Gly Single submitter ⚠
p.Asp87Val Single submitter ⚠
p.Gln24His Single submitter ⚠
p.Ile11Thr Single submitter ⚠
p.Leu3Phe Single submitter ⚠
p.Leu4Pro Single submitter ⚠
p.Pro30Ser Single submitter ⚠
p.Pro98Leu Single submitter ⚠
p.Tyr48His Single submitter ⚠
p.Tyr85His Single submitter ⚠
p.Val32Leu Single submitter ⚠