AP1AR — 34 ClinVar variants
All ClinVar germline AP1AR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
1 Benign · 1 Likely benign · 32 Uncertain significance
Full AP1AR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AP1AR p.Arg123Gln Uncertain significance Single submitter
- AP1AR p.Arg14Gly Uncertain significance Single submitter
- AP1AR p.Arg302Gln Uncertain significance Single submitter
- AP1AR p.Asp86Glu Uncertain significance Single submitter
- AP1AR p.Gln21Arg Uncertain significance Single submitter
- AP1AR p.Glu107Lys Uncertain significance Single submitter
- AP1AR p.Glu82Lys Uncertain significance Single submitter
- AP1AR p.Gly18Glu Uncertain significance Single submitter
- AP1AR p.Gly27Ala Uncertain significance Single submitter
- AP1AR p.Gly27Arg Uncertain significance Single submitter
- AP1AR p.His294Leu Uncertain significance Single submitter
- AP1AR p.Leu12Val Uncertain significance Single submitter
- AP1AR p.Met161Arg Uncertain significance Single submitter
- AP1AR p.Phe10Cys Uncertain significance Single submitter
- AP1AR p.Ser252Pro Uncertain significance Single submitter
- AP1AR p.Ser29Phe Uncertain significance Single submitter
- AP1AR p.Ser36Leu Uncertain significance Single submitter
- AP1AR p.Thr192Ile Uncertain significance Single submitter
- AP1AR p.Thr197Ala Uncertain significance Single submitter
- AP1AR p.Thr7Arg Uncertain significance Single submitter
- AP1AR p.Tyr165Cys Uncertain significance Single submitter
- AP1AR p.Tyr165His Uncertain significance Single submitter
- AP1AR p.Tyr239Phe Uncertain significance Single submitter
- AP1AR p.Val23Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- AP1AR p.Arg114His Uncertain significance Single submitter
- AP1AR p.Asp86Gly Uncertain significance Single submitter
- AP1AR p.Gln92His Uncertain significance Single submitter
- AP1AR p.Glu107Ala Uncertain significance Single submitter
- AP1AR p.Glu276Lys Uncertain significance Single submitter
- AP1AR p.Leu125Phe Uncertain significance Single submitter
- AP1AR p.Phe10Leu Uncertain significance Single submitter
- AP1AR p.Ser79Pro Uncertain significance Single submitter
All AP1AR variants
Benign 1
- p.Val284= Multiple submitters
Likely benign 1
- p.Thr297Ala Single submitter
Uncertain significance 32
- p.Arg114His Single submitter ⚠
- p.Arg123Gln Single submitter ⚠
- p.Arg14Gly Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Asp86Glu Single submitter ⚠
- p.Asp86Gly Single submitter ⚠
- p.Gln21Arg Single submitter ⚠
- p.Gln92His Single submitter ⚠
- p.Glu107Ala Single submitter ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu276Lys Single submitter ⚠
- p.Glu82Lys Single submitter ⚠
- p.Gly18Glu Single submitter ⚠
- p.Gly27Ala Single submitter ⚠
- p.Gly27Arg Single submitter ⚠
- p.His294Leu Single submitter ⚠
- p.Leu125Phe Single submitter ⚠
- p.Leu12Val Single submitter ⚠
- p.Met161Arg Single submitter ⚠
- p.Phe10Cys Single submitter ⚠
- p.Phe10Leu Single submitter ⚠
- p.Ser252Pro Single submitter ⚠
- p.Ser29Phe Single submitter ⚠
- p.Ser36Leu Single submitter ⚠
- p.Ser79Pro Single submitter ⚠
- p.Thr192Ile Single submitter ⚠
- p.Thr197Ala Single submitter ⚠
- p.Thr7Arg Single submitter ⚠
- p.Tyr165Cys Single submitter ⚠
- p.Tyr165His Single submitter ⚠
- p.Tyr239Phe Single submitter ⚠
- p.Val23Ile Single submitter ⚠