ASB9 — 23 ClinVar variants
All ClinVar germline ASB9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
1 Likely benign · 22 Uncertain significance
Full ASB9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASB9 p.Ala14Val Uncertain significance Single submitter
- ASB9 p.Gln178Arg Uncertain significance Single submitter
- ASB9 p.Gln179His Uncertain significance Single submitter
- ASB9 p.Gln247Lys Uncertain significance Single submitter
- ASB9 p.Gln274Lys Uncertain significance Single submitter
- ASB9 p.Gly198Asp Uncertain significance Single submitter
- ASB9 p.Gly6Arg Uncertain significance Single submitter
- ASB9 p.His166Tyr Uncertain significance Single submitter
- ASB9 p.His46Arg Uncertain significance Single submitter
- ASB9 p.Met8Leu Uncertain significance Single submitter
- ASB9 p.Ser132Thr Uncertain significance Single submitter
- ASB9 p.Val282Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- ASB9 p.Ala181Val Uncertain significance Single submitter
- ASB9 p.Arg143Gly Likely benign Single submitter
- ASB9 p.Arg234Cys Uncertain significance Single submitter
- ASB9 p.Arg267Gln Uncertain significance Single submitter
- ASB9 p.Glu131Gly Uncertain significance Single submitter
- ASB9 p.Ile154Thr Uncertain significance Single submitter
- ASB9 p.Ile160Thr Uncertain significance Single submitter
- ASB9 p.Leu291Val Uncertain significance Single submitter
- ASB9 p.Pro255Ser Uncertain significance Single submitter
- ASB9 p.Ser201Phe Uncertain significance Single submitter
All ASB9 variants
Likely benign 1
- p.Arg143Gly Single submitter ⚠
Uncertain significance 22
- p.Ala14Val Single submitter ⚠
- p.Ala181Val Single submitter ⚠
- p.Arg234Cys Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Gln178Arg Single submitter ⚠
- p.Gln179His Single submitter ⚠
- p.Gln247Lys Single submitter ⚠
- p.Gln274Lys Single submitter ⚠
- p.Glu131Gly Single submitter ⚠
- p.Gly198Asp Single submitter ⚠
- p.Gly6Arg Single submitter ⚠
- p.His166Tyr Single submitter ⚠
- p.His46Arg Single submitter ⚠
- p.Ile154Thr Single submitter ⚠
- p.Ile160Thr Single submitter ⚠
- p.Leu291Val Single submitter ⚠
- p.Met8Leu Single submitter ⚠
- p.Pro255Ser Single submitter ⚠
- p.Ser132Thr Single submitter ⚠
- p.Ser201Phe Single submitter ⚠
- p.Val150fs Single submitter
- p.Val282Ile Single submitter ⚠