ASB7 — 21 ClinVar variants
All ClinVar germline ASB7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
4 Benign · 17 Uncertain significance
Full ASB7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASB7 p.Ala45Val Uncertain significance Single submitter
- ASB7 p.Arg231Gln Uncertain significance Single submitter
- ASB7 p.Asn173Ser Uncertain significance Single submitter
- ASB7 p.Asp171His Uncertain significance Single submitter
- ASB7 p.Asp239Gly Uncertain significance Single submitter
- ASB7 p.Gln288Glu Uncertain significance Single submitter
- ASB7 p.Gln293Arg Uncertain significance Single submitter
- ASB7 p.Gln36Arg Uncertain significance Single submitter
- ASB7 p.Leu200Pro Uncertain significance Single submitter
- ASB7 p.Leu223Phe Uncertain significance Single submitter
- ASB7 p.Lys32Gln Uncertain significance Single submitter
- ASB7 p.Thr240Met Uncertain significance Single submitter
- ASB7 p.Thr74Arg Uncertain significance Single submitter
- ASB7 p.Val75Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All ASB7 variants
Benign 4
Uncertain significance 17
- p.Ala45Val Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Asn173Ser Single submitter ⚠
- p.Asp171His Single submitter ⚠
- p.Asp239Gly Single submitter ⚠
- p.Asp316Gly Single submitter ⚠
- p.Gln288Glu Single submitter ⚠
- p.Gln293Arg Single submitter ⚠
- p.Gln36Arg Single submitter ⚠
- p.Leu200Pro Single submitter ⚠
- p.Leu223Phe Single submitter ⚠
- p.Lys32Gln Single submitter ⚠
- p.Met198Ile Single submitter ⚠
- p.Met307Thr Single submitter ⚠
- p.Thr240Met Single submitter ⚠
- p.Thr74Arg Single submitter ⚠
- p.Val75Ile Single submitter ⚠