AUP1 — 65 ClinVar variants
All ClinVar germline AUP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →
65 Uncertain significance
Full AUP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 65
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AUP1 p.Ala32Ser Uncertain significance Single submitter
- AUP1 p.Ala55Ser Uncertain significance Single submitter
- AUP1 p.Ala71Val Uncertain significance Single submitter
- AUP1 p.Arg258Trp Uncertain significance Single submitter
- AUP1 p.Arg389Cys Uncertain significance Single submitter
- AUP1 p.Arg78Trp Uncertain significance Single submitter
- AUP1 p.Asn117Ser Uncertain significance Single submitter
- AUP1 p.Asn133Ser Uncertain significance Single submitter
- AUP1 p.Asp319Glu Uncertain significance Single submitter
- AUP1 p.Glu137Ala Uncertain significance Single submitter
- AUP1 p.Glu384Lys Uncertain significance Single submitter
- AUP1 p.Gly134Glu Uncertain significance Single submitter
- AUP1 p.Gly170Val Uncertain significance Single submitter
- AUP1 p.Gly20Ser Uncertain significance Single submitter
- AUP1 p.Gly336Arg Uncertain significance Single submitter
- AUP1 p.His267Tyr Uncertain significance Single submitter
- AUP1 p.Ile104Val Uncertain significance Single submitter
- AUP1 p.Ile330Val Uncertain significance Single submitter
- AUP1 p.Leu115Val Uncertain significance Single submitter
- AUP1 p.Leu233Val Uncertain significance Single submitter
- AUP1 p.Met130Leu Uncertain significance Single submitter
- AUP1 p.Met268Ile Uncertain significance Single submitter
- AUP1 p.Met268Lys Uncertain significance Single submitter
- AUP1 p.Phe23Val Uncertain significance Single submitter
- AUP1 p.Phe36Cys Uncertain significance Single submitter
- AUP1 p.Pro114Ser Uncertain significance Single submitter
- AUP1 p.Pro119Leu Uncertain significance Single submitter
- AUP1 p.Pro119Thr Uncertain significance Single submitter
- AUP1 p.Pro370Ser Uncertain significance Single submitter
- AUP1 p.Pro4Ala Uncertain significance Single submitter
- AUP1 p.Pro7Leu Uncertain significance Single submitter
- AUP1 p.Ser112Asn Uncertain significance Single submitter
- AUP1 p.Ser284Ala Uncertain significance Single submitter
- AUP1 p.Ser5Leu Uncertain significance Single submitter
- AUP1 p.Thr255Ala Uncertain significance Single submitter
- AUP1 p.Thr299Ala Uncertain significance Single submitter
- AUP1 p.Val105Ile Uncertain significance Single submitter
- AUP1 p.Val223Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
-
AUP1 p.Pro9Ser
Uncertain significance
Multiple submitters
Parkinson disease 13, autosomal dominant, susceptibility to
- AUP1 p.Ala241Val Uncertain significance Single submitter
- AUP1 p.Arg144Gly Uncertain significance Single submitter
- AUP1 p.Arg144Ile Uncertain significance Single submitter
- AUP1 p.Arg173His Uncertain significance Single submitter
- AUP1 p.Arg231His Uncertain significance Single submitter
- AUP1 p.Arg270Gln Uncertain significance Single submitter
- AUP1 p.Arg277Cys Uncertain significance Single submitter
- AUP1 p.Arg67Trp Uncertain significance Single submitter
- AUP1 p.Gln383His Uncertain significance Single submitter
- AUP1 p.Gly234Arg Uncertain significance Single submitter
- AUP1 p.Leu115Pro Uncertain significance Single submitter
- AUP1 p.Leu190Met Uncertain significance Single submitter
- AUP1 p.Leu26Phe Uncertain significance Single submitter
- AUP1 p.Leu30Phe Uncertain significance Single submitter
- AUP1 p.Leu328Phe Uncertain significance Single submitter
- AUP1 p.Lys377Asn Uncertain significance Single submitter
- AUP1 p.Met69Val Uncertain significance Single submitter
- AUP1 p.Pro153Arg Uncertain significance Single submitter
- AUP1 p.Pro293Leu Uncertain significance Single submitter
- AUP1 p.Ser15Trp Uncertain significance Single submitter
- AUP1 p.Thr189Ile Uncertain significance Single submitter
- AUP1 p.Thr367Ile Uncertain significance Single submitter
- AUP1 p.Val220Ala Uncertain significance Single submitter
- AUP1 p.Val307Ile Uncertain significance Single submitter
- AUP1 p.Val338Ile Uncertain significance Single submitter
- AUP1 p.Val52Ala Uncertain significance Single submitter
All AUP1 variants
Uncertain significance 65
- p.Pro9Ser Multiple submitters Parkinson disease 13, autosomal dominant, susceptibility to ⚠
- p.Ala241Val Single submitter ⚠
- p.Ala32Ser Single submitter ⚠
- p.Ala55Ser Single submitter ⚠
- p.Ala71Val Single submitter ⚠
- p.Arg144Gly Single submitter ⚠
- p.Arg144Ile Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg231His Single submitter ⚠
- p.Arg258Trp Single submitter ⚠
- p.Arg270Gln Single submitter ⚠
- p.Arg277Cys Single submitter ⚠
- p.Arg389Cys Single submitter ⚠
- p.Arg67Trp Single submitter ⚠
- p.Arg78Trp Single submitter ⚠
- p.Asn117Ser Single submitter ⚠
- p.Asn133Ser Single submitter ⚠
- p.Asp319Glu Single submitter ⚠
- p.Gln383His Single submitter ⚠
- p.Glu137Ala Single submitter ⚠
- p.Glu384Lys Single submitter ⚠
- p.Gly134Glu Single submitter ⚠
- p.Gly170Val Single submitter ⚠
- p.Gly20Ser Single submitter ⚠
- p.Gly234Arg Single submitter ⚠
- p.Gly336Arg Single submitter ⚠
- p.His267Tyr Single submitter ⚠
- p.Ile104Val Single submitter ⚠
- p.Ile330Val Single submitter ⚠
- p.Leu115Pro Single submitter ⚠
- p.Leu115Val Single submitter ⚠
- p.Leu190Met Single submitter ⚠
- p.Leu233Val Single submitter ⚠
- p.Leu26Phe Single submitter ⚠
- p.Leu30Phe Single submitter ⚠
- p.Leu328Phe Single submitter ⚠
- p.Lys377Asn Single submitter ⚠
- p.Met130Leu Single submitter ⚠
- p.Met268Ile Single submitter ⚠
- p.Met268Lys Single submitter ⚠
- p.Met69Val Single submitter ⚠
- p.Phe23Val Single submitter ⚠
- p.Phe36Cys Single submitter ⚠
- p.Pro114Ser Single submitter ⚠
- p.Pro119Leu Single submitter ⚠
- p.Pro119Thr Single submitter ⚠
- p.Pro153Arg Single submitter ⚠
- p.Pro293Leu Single submitter ⚠
- p.Pro370Ser Single submitter ⚠
- p.Pro4Ala Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Ser112Asn Single submitter ⚠
- p.Ser15Trp Single submitter ⚠
- p.Ser284Ala Single submitter ⚠
- p.Ser5Leu Single submitter ⚠
- p.Thr189Ile Single submitter ⚠
- p.Thr255Ala Single submitter ⚠
- p.Thr299Ala Single submitter ⚠
- p.Thr367Ile Single submitter ⚠
- p.Val105Ile Single submitter ⚠
- p.Val220Ala Single submitter ⚠
- p.Val223Ile Single submitter ⚠
- p.Val307Ile Single submitter ⚠
- p.Val338Ile Single submitter ⚠
- p.Val52Ala Single submitter ⚠