ASB12 — 54 ClinVar variants

All ClinVar germline ASB12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

4 Likely benign · 50 Uncertain significance

Full ASB12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All ASB12 variants

Likely benign 4

p.Ala130Pro Single submitter
p.Arg278Trp Single submitter
p.Asn166= Single submitter
p.Val288Ile Single submitter

Uncertain significance 50

p.Ala113Val Single submitter
p.Ala189Thr Single submitter
p.Ala8Thr Single submitter
p.Arg123Cys Single submitter
p.Arg148Cys Single submitter
p.Arg148Gly Single submitter
p.Arg148His Single submitter
p.Arg198Cys Single submitter
p.Arg219Cys Single submitter
p.Arg219His Single submitter
p.Arg219Pro Single submitter
p.Arg224Cys Single submitter
p.Arg274Pro Single submitter
p.Arg278Gln Single submitter
p.Arg285Cys Single submitter
p.Arg285His Single submitter
p.Arg289Cys Single submitter
p.Arg289His Single submitter
p.Arg59Leu Single submitter
p.Arg62Cys Single submitter
p.Arg67Thr Single submitter
p.Asn210Thr Single submitter
p.Asp103Asn Single submitter
p.Asp149Ala Single submitter
p.Asp195Glu Single submitter
p.Asp208Asn Single submitter
p.Asp264Tyr Single submitter
p.Asp305His Single submitter
p.Asp45Glu Single submitter
p.Gln23Lys Single submitter
p.Gly129Val Single submitter
p.His193Asn Single submitter
p.Ile136Met Single submitter
p.Ile136Thr Single submitter
p.Ile178Thr Single submitter
p.Leu194Gln Single submitter
p.Leu231Phe Single submitter
p.Met13Thr Single submitter
p.Met309Ile Single submitter
p.Pro109Ser Single submitter
p.Pro142Leu Single submitter
p.Pro298Ala Single submitter
p.Thr108Met Single submitter
p.Thr16Asn Single submitter
p.Thr225Ile Single submitter
p.Thr276Ile Single submitter
p.Val122Ile Single submitter
p.Val167Ala Single submitter
p.Val167Ile Single submitter
p.Val288Ala Single submitter