APH1B — 28 ClinVar variants
All ClinVar germline APH1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Likely benign · 27 Uncertain significance
Full APH1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APH1B p.Ala4Thr Uncertain significance Single submitter
- APH1B p.Ala76Gly Uncertain significance Single submitter
- APH1B p.Asn253Ile Uncertain significance Single submitter
- APH1B p.Asp179Tyr Uncertain significance Single submitter
- APH1B p.Gly15Arg Uncertain significance Single submitter
- APH1B p.Gly174Ser Uncertain significance Single submitter
- APH1B p.Gly187Asp Uncertain significance Single submitter
- APH1B p.Gly187Ser Uncertain significance Single submitter
- APH1B p.Ile25Val Uncertain significance Single submitter
- APH1B p.Lys247Glu Uncertain significance Single submitter
- APH1B p.Phe23Cys Uncertain significance Single submitter
- APH1B p.Phe40Ser Uncertain significance Single submitter
- APH1B p.Ser50Cys Uncertain significance Single submitter
- APH1B p.Thr136Ile Uncertain significance Single submitter
- APH1B p.Thr195Ile Uncertain significance Single submitter
- APH1B p.Tyr158Phe Uncertain significance Single submitter
- APH1B p.Tyr209His Uncertain significance Single submitter
- APH1B p.Tyr90His Uncertain significance Single submitter
- APH1B p.Val165Leu Uncertain significance Single submitter
- APH1B p.Val22Leu Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All APH1B variants
Likely benign 1
- p.Phe34= Single submitter
Uncertain significance 27
- p.Ala4Thr Single submitter ⚠
- p.Ala76Gly Single submitter ⚠
- p.Asn253Ile Single submitter ⚠
- p.Asp179Tyr Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly174Ser Single submitter ⚠
- p.Gly187Asp Single submitter ⚠
- p.Gly187Ser Single submitter ⚠
- p.Ile25Val Single submitter ⚠
- p.Leu122Val Single submitter ⚠
- p.Leu243Pro Single submitter ⚠
- p.Leu47Val Single submitter
- p.Lys247Glu Single submitter ⚠
- p.Phe23Cys Single submitter ⚠
- p.Phe34Cys Single submitter
- p.Phe40Ser Single submitter ⚠
- p.Phe7Leu Single submitter ⚠
- p.Pro29Gln Single submitter
- p.Ser128Asn Single submitter ⚠
- p.Ser50Cys Single submitter ⚠
- p.Thr136Ile Single submitter ⚠
- p.Thr195Ile Single submitter ⚠
- p.Tyr158Phe Single submitter ⚠
- p.Tyr209His Single submitter ⚠
- p.Tyr90His Single submitter ⚠
- p.Val165Leu Single submitter ⚠
- p.Val22Leu Single submitter ⚠