ASB14 — 101 ClinVar variants

All ClinVar germline ASB14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →

1 Benign · 8 Likely benign · 92 Uncertain significance

Full ASB14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 90

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 49

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

Predictors split 41

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

All ASB14 variants

Benign 1

c.*120dup Single submitter

Likely benign 8

p.Arg160His Single submitter
p.Arg237Gln Single submitter
p.Arg506Gln Single submitter
p.His35Gln Single submitter
p.Ile84Leu Single submitter
p.Met202Leu Single submitter
p.Thr464Ala Single submitter
p.Tyr28His Single submitter

Uncertain significance 92

p.Ala104Val Single submitter ⚠
p.Ala221Thr Single submitter ⚠
p.Ala257Thr Single submitter ⚠
p.Ala297Gly Single submitter ⚠
p.Ala33Ser Single submitter ⚠
p.Ala363Pro Single submitter ⚠
p.Ala378Val Single submitter ⚠
p.Ala48Thr Single submitter ⚠
p.Ala89Val Single submitter ⚠
p.Arg160Cys Single submitter ⚠
p.Arg160Leu Single submitter ⚠
p.Arg237Trp Single submitter ⚠
p.Arg496Gln Single submitter ⚠
p.Arg532Pro Single submitter ⚠
p.Arg539His Single submitter ⚠
p.Arg543Gln Single submitter ⚠
p.Arg552Cys Single submitter ⚠
p.Arg552His Single submitter ⚠
p.Arg565Cys Single submitter ⚠
p.Arg565Ser Single submitter ⚠
p.Asn139Ser Single submitter ⚠
p.Asn171His Single submitter ⚠
p.Asn530Lys Single submitter ⚠
p.Asn94Ser Single submitter ⚠
p.Asp248Gly Single submitter ⚠
p.Asp26Asn Single submitter ⚠
p.Asp274Glu Single submitter ⚠
p.Asp457His Single submitter ⚠
p.Asp500Asn Single submitter ⚠
p.Asp576Asn Single submitter ⚠
p.Asp9Asn Single submitter ⚠
p.Cys320Phe Single submitter ⚠
p.Cys416Tyr Single submitter ⚠
p.Cys545Trp Single submitter ⚠
p.Gln112His Single submitter ⚠
p.Gln212Lys Single submitter ⚠
p.Gln518fs Single submitter ASB14-related condition
p.Glu331Lys Single submitter ⚠
p.Glu466Lys Single submitter ⚠
p.Glu58Gly Single submitter ⚠
p.Gly150Ala Single submitter ⚠
p.Gly337Ala Single submitter ⚠
p.Gly379Ala Single submitter ⚠
p.Gly444Arg Single submitter ⚠
p.Gly581Glu Single submitter ⚠
p.Gly60Ser Single submitter
p.Gly82Ser Single submitter ⚠
p.His208Arg Single submitter ⚠
p.His283Gln Single submitter ⚠
p.His460Arg Single submitter ⚠
p.His489Tyr Single submitter ⚠
p.His525Asn Single submitter ⚠
p.Ile300Thr Single submitter ⚠
p.Ile392Thr Single submitter ⚠
p.Ile402Val Single submitter ⚠
p.Ile520Phe Single submitter ⚠
p.Ile527Val Single submitter ⚠
p.Ile53Thr Single submitter ⚠
p.Ile57Thr Single submitter ⚠
p.Ile97Phe Single submitter ⚠
p.Leu137Ile Single submitter ⚠
p.Leu193Arg Single submitter ⚠
p.Leu220Pro Single submitter ⚠
p.Leu236Met Single submitter ⚠
p.Leu427Val Single submitter ⚠
p.Leu484Ser Single submitter ⚠
p.Lys146Glu Single submitter ⚠
p.Lys477Gln Single submitter ⚠
p.Lys512Gln Single submitter ⚠
p.Lys573Glu Single submitter ⚠
p.Phe451Ile Single submitter ⚠
p.Phe451Ser Single submitter ⚠
p.Pro143Leu Single submitter ⚠
p.Pro262Ala Single submitter ⚠
p.Pro531Arg Single submitter ⚠
p.Ser522Leu Single submitter ⚠
p.Thr101Ile Single submitter ⚠
p.Thr113Ser Single submitter ⚠
p.Thr16Ile Single submitter ⚠
p.Thr214Met Single submitter ⚠
p.Thr229Asn Single submitter ⚠
p.Thr305Lys Single submitter ⚠
p.Thr305Met Single submitter ⚠
p.Thr464Ser Single submitter ⚠
p.Thr469Ile Single submitter ⚠
p.Tyr445Asp Single submitter ⚠
p.Val125Ile Single submitter ⚠
p.Val288Ala Single submitter ⚠
p.Val340Met Single submitter ⚠
p.Val494Ala Single submitter ⚠
p.Val502Ala Single submitter ⚠
p.Val502Gly Single submitter ⚠