ASB2 — 122 ClinVar variants

All ClinVar germline ASB2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

6 Likely benign · 116 Uncertain significance

Full ASB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 77

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 59

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

Predictors split 18

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

All ASB2 variants

Likely benign 6

p.Ala530Val Single submitter
p.Arg159Gln Single submitter
p.Asn526Ser Single submitter
p.Asp115Glu Single submitter
p.His381Asn Single submitter
p.Ile343Val Single submitter

Uncertain significance 116

p.Ala132Thr Single submitter ⚠
p.Ala196Thr Single submitter
p.Ala212Asp Single submitter ⚠
p.Ala229Thr Single submitter ⚠
p.Ala269Thr Single submitter ⚠
p.Ala305Thr Single submitter ⚠
p.Ala330Thr Single submitter ⚠
p.Ala376Pro Single submitter ⚠
p.Ala400Thr Single submitter ⚠
p.Ala435Val Single submitter ⚠
p.Ala448Val Single submitter ⚠
p.Ala480Thr Single submitter ⚠
p.Ala518Thr Single submitter ⚠
p.Ala530Glu Single submitter ⚠
p.Ala553Pro Single submitter
p.Ala81Thr Single submitter ⚠
p.Arg205Gln Single submitter ⚠
p.Arg215His Single submitter ⚠
p.Arg234Cys Single submitter ⚠
p.Arg234His Single submitter
p.Arg237Cys Single submitter
p.Arg248Cys Single submitter
p.Arg288Lys Single submitter ⚠
p.Arg364His Single submitter ⚠
p.Arg379Ser Single submitter ⚠
p.Arg410Trp Single submitter ⚠
p.Arg411Gly Single submitter
p.Arg524Ser Single submitter ⚠
p.Arg605Gln Single submitter
p.Arg612Cys Single submitter
p.Arg612His Single submitter
p.Arg612Leu Single submitter
p.Arg80Trp Single submitter ⚠
p.Asn236Lys Single submitter ⚠
p.Asn331Lys Single submitter
p.Asn566Asp Single submitter
p.Asp117Asn Single submitter ⚠
p.Asp303Asn Single submitter
p.Asp329Asn Single submitter
p.Asp436Asn Single submitter ⚠
p.Asp462Gly Single submitter ⚠
p.Asp527Tyr Single submitter ⚠
p.Asp558Asn Single submitter
p.Cys153Tyr Single submitter
p.Cys453Trp Single submitter
p.Cys453Tyr Single submitter
p.Gln150Arg Single submitter ⚠
p.Gln171Lys Single submitter ⚠
p.Gln283His Single submitter ⚠
p.Gln300Lys Single submitter
p.Gln539Pro Single submitter
p.Glu144Lys Single submitter
p.Glu197Asp Single submitter ⚠
p.Glu197Gln Single submitter ⚠
p.Glu244Lys Single submitter
p.Gly149Asp Single submitter
p.Gly238Ser Single submitter ⚠
p.Gly282Glu Single submitter ⚠
p.Gly337Ser Single submitter ⚠
p.Gly464Ser Single submitter
p.Gly502Asp Single submitter ⚠
p.Gly513Arg Single submitter ⚠
p.Gly565Asp Single submitter ⚠
p.Gly609Val Single submitter
p.His381Gln Single submitter ⚠
p.Ile200Val Single submitter ⚠
p.Ile471Thr Single submitter
p.Ile556Phe Single submitter ⚠
p.Ile557Met Single submitter
p.Ile613Thr Single submitter
p.Leu388Gln Single submitter ⚠
p.Leu431Met Single submitter
p.Leu561Pro Single submitter ⚠
p.Leu625Gln Single submitter ⚠
p.Leu97Phe Single submitter ⚠
p.Lys114Arg Single submitter ⚠
p.Lys589Arg Single submitter ⚠
p.Met254Ile Single submitter ⚠
p.Met355Thr Single submitter
p.Met486Thr Single submitter
p.Met83Ile Single submitter ⚠
p.Met83Val Single submitter ⚠
p.Phe289Leu Single submitter ⚠
p.Phe417Leu Single submitter
p.Phe525Leu Single submitter ⚠
p.Phe525Val Single submitter ⚠
p.Phe543Leu Single submitter ⚠
p.Pro198Leu Single submitter
p.Pro208Ser Single submitter ⚠
p.Pro340Leu Single submitter ⚠
p.Pro358Arg Single submitter
p.Pro479His Single submitter
p.Pro479Thr Single submitter ⚠
p.Pro514Gln Single submitter
p.Pro521Ala Single submitter ⚠
p.Pro535Ser Single submitter ⚠
p.Pro595Thr Single submitter ⚠
p.Pro78Leu Single submitter ⚠
p.Ser101Tyr Single submitter ⚠
p.Ser190Leu Single submitter ⚠
p.Ser345Pro Single submitter
p.Ser523Gly Single submitter ⚠
p.Ser571Pro Single submitter ⚠
p.Ser571Trp Single submitter ⚠
p.Ser70Phe Single submitter ⚠
p.Ser76Asn Single submitter ⚠
p.Ser94Gly Single submitter ⚠
p.Val176Ala Single submitter
p.Val176Ile Single submitter ⚠
p.Val221Gly Single submitter ⚠
p.Val221Met Single submitter
p.Val264Leu Single submitter ⚠
p.Val277Leu Single submitter ⚠
p.Val320Ala Single submitter ⚠
p.Val585Ile Single submitter ⚠
p.Val89Ile Single submitter ⚠