AHSG — 76 ClinVar variants

All ClinVar germline AHSG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →

1 Likely pathogenic · 1 Conflicting · 15 Benign · 9 Likely benign · 50 Uncertain significance

Full AHSG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 57

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

AHSG p.Arg317His Likely pathogenic Single submitter
alopecia-intellectual disability syndrome 1

Predictors lean, ClinVar uncertain 24

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

Predictors split 32

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

All AHSG variants

Likely pathogenic 1

p.Arg317His Single submitter alopecia-intellectual disability syndrome 1 ⚠

Conflicting classifications of pathogenicity 1

p.Lys2Ter Single submitter alopecia-intellectual disability syndrome 1

Benign 15

p.Arg317Cys Multiple submitters ⚠
p.Met248Thr Multiple submitters alopecia-intellectual disability syndrome 1
p.Ser256Thr Multiple submitters alopecia-intellectual disability syndrome 1
p.Thr270= Multiple submitters alopecia-intellectual disability syndrome 1
p.Val142Leu Multiple submitters ⚠
c.410-7C>T Single submitter
c.675+10C>A Single submitter
p.Ala170= Single submitter
p.Arg340His Single submitter ⚠
p.Pro261Arg Single submitter ⚠
p.Pro70Ser Single submitter
c.214-903G>A No assertion criteria RECLASSIFIED - AHSG POLYMORPHISM
c.*7C>A No assertion criteria AHSG-related disorder
p.Leu13= No assertion criteria AHSG-related disorder
p.Leu309= No assertion criteria AHSG-related disorder

Likely benign 9

p.Ala164Val Single submitter ⚠
p.Asn156= Single submitter
p.Asp296Tyr Single submitter ⚠
p.His307Pro Single submitter
p.Pro30Leu Single submitter
p.Pro359= Single submitter
p.Ser334Leu Single submitter
p.Tyr27= Single submitter
p.Val268= Single submitter

Uncertain significance 50

p.Val342Met Multiple submitters alopecia-intellectual disability syndrome 1 ⚠
p.Ala139Asp Single submitter ⚠
p.Ala170Thr Single submitter ⚠
p.Ala312Thr Single submitter ⚠
p.Ala351Pro Single submitter ⚠
p.Ala98Thr Single submitter ⚠
p.Arg311Gln Single submitter ⚠
p.Arg311Trp Single submitter ⚠
p.Arg337Trp Single submitter ⚠
p.Arg363Thr Single submitter ⚠
p.Asn179Ser Single submitter ⚠
p.Asn61Ser Single submitter ⚠
p.Asp137Glu Single submitter ⚠
p.Asp141Glu Single submitter ⚠
p.Asp296Ala Single submitter ⚠
p.Asp33Asn Single submitter ⚠
p.Cys32Tyr Single submitter ⚠
p.Cys358Tyr Single submitter ⚠
p.Cys9Phe Single submitter ⚠
p.Gln181Glu Single submitter ⚠
p.Gln181His Single submitter ⚠
p.Gln189Lys Single submitter ⚠
p.Gln344Pro Single submitter ⚠
p.Glu39Asp Single submitter ⚠
p.Glu86Lys Single submitter ⚠
p.Gly177Arg Single submitter ⚠
p.Gly75Arg Single submitter ⚠
p.His307Tyr Single submitter ⚠
p.Leu152Val Single submitter ⚠
p.Pro259Thr Single submitter ⚠
p.Pro278Ser Single submitter ⚠
p.Pro281Leu Single submitter ⚠
p.Pro295Leu Single submitter ⚠
p.Pro359Leu Single submitter ⚠
p.Ser293Thr Single submitter ⚠
p.Ser346Arg Single submitter ⚠
p.Ser74Pro Single submitter ⚠
p.Thr158Pro Single submitter ⚠
p.Thr84Ile Single submitter ⚠
p.Thr95Asn Single submitter ⚠
p.Thr95Ile Single submitter ⚠
p.Tyr198Ser Single submitter ⚠
p.Val102Met Single submitter ⚠
p.Val199Leu Single submitter ⚠
p.Val243Ala Single submitter ⚠
p.Val272Met Single submitter ⚠
p.Val333Met Single submitter ⚠
p.Val347Phe Single submitter ⚠
p.Val68Met Single submitter ⚠
p.Val91Gly Single submitter ⚠