APH1A — 22 ClinVar variants
All ClinVar germline APH1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
1 Likely benign · 21 Uncertain significance
Full APH1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APH1A p.Ala37Ser Uncertain significance Single submitter
- APH1A p.Ala49Ser Uncertain significance Single submitter
- APH1A p.Leu101Ile Uncertain significance Single submitter
- APH1A p.Phe14Leu Uncertain significance Single submitter
- APH1A p.Ser103Leu Uncertain significance Single submitter
- APH1A p.Ser79Phe Uncertain significance Single submitter
- APH1A p.Val134Leu Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- APH1A p.Arg109Gly Uncertain significance Single submitter
- APH1A p.Arg186Trp Uncertain significance Single submitter
- APH1A p.Arg241Gly Uncertain significance Single submitter
- APH1A p.Arg241His Uncertain significance Single submitter
- APH1A p.Arg66Trp Uncertain significance Single submitter
- APH1A p.Asp61Asn Uncertain significance Single submitter
- APH1A p.Gly70Ser Uncertain significance Single submitter
- APH1A p.Leu22Phe Uncertain significance Single submitter
- APH1A p.Ser223Pro Uncertain significance Single submitter
- APH1A p.Ser242Asn Uncertain significance Single submitter
- APH1A p.Val194Ala Uncertain significance Single submitter
- APH1A p.Val253Met Uncertain significance Single submitter
- APH1A p.Val51Met Uncertain significance Single submitter
- APH1A p.Val85Met Uncertain significance Single submitter
All APH1A variants
Likely benign 1
- c.285-16CCCCA[4] No assertion criteria APH1A-related disorder
Uncertain significance 21
- p.Ala37Ser Single submitter ⚠
- p.Ala49Ser Single submitter ⚠
- p.Arg109Gly Single submitter ⚠
- p.Arg186Trp Single submitter ⚠
- p.Arg241Gly Single submitter ⚠
- p.Arg241His Single submitter ⚠
- p.Arg66Trp Single submitter ⚠
- p.Asp61Asn Single submitter ⚠
- p.Gly70Ser Single submitter ⚠
- p.Leu101Ile Single submitter ⚠
- p.Leu22Phe Single submitter ⚠
- p.Phe14Leu Single submitter ⚠
- p.Ser103Leu Single submitter ⚠
- p.Ser223Pro Single submitter ⚠
- p.Ser242Asn Single submitter ⚠
- p.Ser79Phe Single submitter ⚠
- p.Val134Leu Single submitter ⚠
- p.Val194Ala Single submitter ⚠
- p.Val253Met Single submitter ⚠
- p.Val51Met Single submitter ⚠
- p.Val85Met Single submitter ⚠