AJAP1 — 67 ClinVar variants
All ClinVar germline AJAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
2 Benign · 3 Likely benign · 62 Uncertain significance
Full AJAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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.
- AJAP1 p.Pro228Arg Uncertain significance Multiple submitters
- AJAP1 p.Ser260Gly Uncertain significance Multiple submitters
- AJAP1 p.Ala115Thr Uncertain significance Single submitter
- AJAP1 p.Ala122Thr Uncertain significance Single submitter
- AJAP1 p.Ala123Thr Uncertain significance Single submitter
- AJAP1 p.Ala142Val Uncertain significance Single submitter
- AJAP1 p.Ala150Thr Uncertain significance Single submitter
- AJAP1 p.Ala275Val Uncertain significance Single submitter
- AJAP1 p.Ala76Val Uncertain significance Single submitter
- AJAP1 p.Ala98Val Uncertain significance Single submitter
- AJAP1 p.Arg105Gln Uncertain significance Single submitter
- AJAP1 p.Arg153Met Uncertain significance Single submitter
- AJAP1 p.Arg15Leu Uncertain significance Single submitter
- AJAP1 p.Arg19His Uncertain significance Single submitter
- AJAP1 p.Arg212Trp Uncertain significance Single submitter
- AJAP1 p.Arg270Lys Uncertain significance Single submitter
- AJAP1 p.Arg314His Uncertain significance Single submitter
- AJAP1 p.Arg55Trp Uncertain significance Single submitter
- AJAP1 p.Arg85Leu Uncertain significance Single submitter
- AJAP1 p.Asn195Asp Uncertain significance Single submitter
- AJAP1 p.Asp370Asn Uncertain significance Single submitter
- AJAP1 p.Glu190Lys Uncertain significance Single submitter
- AJAP1 p.Glu264Asp Uncertain significance Single submitter
- AJAP1 p.Gly161Glu Uncertain significance Single submitter
- AJAP1 p.Gly47Arg Uncertain significance Single submitter
- AJAP1 p.Gly47Glu Uncertain significance Single submitter
- AJAP1 p.His158Gln Uncertain significance Single submitter
- AJAP1 p.Ile283Asn Uncertain significance Single submitter
- AJAP1 p.Leu111Arg Uncertain significance Single submitter
- AJAP1 p.Leu130Phe Uncertain significance Single submitter
- AJAP1 p.Leu192Arg Uncertain significance Single submitter
- AJAP1 p.Leu52Pro Uncertain significance Single submitter
- AJAP1 p.Lys213Glu Uncertain significance Single submitter
- AJAP1 p.Pro104Ala Uncertain significance Single submitter
- AJAP1 p.Pro247Ala Uncertain significance Single submitter
- AJAP1 p.Pro255Thr Uncertain significance Single submitter
- AJAP1 p.Pro75Leu Uncertain significance Single submitter
- AJAP1 p.Pro84Leu Uncertain significance Single submitter
- AJAP1 p.Ser133Leu Uncertain significance Single submitter
- AJAP1 p.Ser135Leu Uncertain significance Single submitter
- AJAP1 p.Ser166Arg Uncertain significance Single submitter
- AJAP1 p.Ser172Arg Uncertain significance Single submitter
- AJAP1 p.Ser23Ile Uncertain significance Single submitter
- AJAP1 p.Ser375Leu Uncertain significance Single submitter
- AJAP1 p.Ser65Arg Uncertain significance Single submitter
- AJAP1 p.Thr176Ile Uncertain significance Single submitter
- AJAP1 p.Thr252Ala Uncertain significance Single submitter
- AJAP1 p.Thr253Lys Uncertain significance Single submitter
- AJAP1 p.Thr376Ser Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- AJAP1 p.Ala349Asp Uncertain significance Single submitter
- AJAP1 p.Arg362Gly Uncertain significance Single submitter
- AJAP1 p.Asn351Lys Uncertain significance Single submitter
- AJAP1 p.Asp393Ala Uncertain significance Single submitter
- AJAP1 p.Phe347Leu Uncertain significance Single submitter
- AJAP1 p.Ser132Phe Uncertain significance Single submitter
- AJAP1 p.Ser80Arg Uncertain significance Single submitter
- AJAP1 p.Thr220Pro Uncertain significance Single submitter
- AJAP1 p.Trp183Cys Uncertain significance No assertion criteria
All AJAP1 variants
Benign 2
- p.Ala35Val Multiple submitters
- p.Gly202Asp Multiple submitters
Likely benign 3
- c.30-10C>T Single submitter
- p.Ser56Pro Single submitter
- p.Val36Met Single submitter
Uncertain significance 62
- p.Pro228Arg Multiple submitters ⚠
- p.Ser260Gly Multiple submitters ⚠
- p.Ala115Thr Single submitter ⚠
- p.Ala122Thr Single submitter ⚠
- p.Ala123Thr Single submitter ⚠
- p.Ala142Val Single submitter ⚠
- p.Ala150Thr Single submitter ⚠
- p.Ala275Val Single submitter ⚠
- p.Ala349Asp Single submitter ⚠
- p.Ala76Val Single submitter ⚠
- p.Ala98Val Single submitter ⚠
- p.Arg105Gln Single submitter ⚠
- p.Arg153Met Single submitter ⚠
- p.Arg15Leu Single submitter ⚠
- p.Arg19His Single submitter ⚠
- p.Arg212Trp Single submitter ⚠
- p.Arg270Lys Single submitter ⚠
- p.Arg314His Single submitter ⚠
- p.Arg315Pro Single submitter
- p.Arg362Gly Single submitter ⚠
- p.Arg394Gln Single submitter
- p.Arg55Trp Single submitter ⚠
- p.Arg85Leu Single submitter ⚠
- p.Asn195Asp Single submitter ⚠
- p.Asn351Lys Single submitter ⚠
- p.Asp370Asn Single submitter ⚠
- p.Asp393Ala Single submitter ⚠
- p.Glu190Lys Single submitter ⚠
- p.Glu264Asp Single submitter ⚠
- p.Gly161Glu Single submitter ⚠
- p.Gly378Trp Single submitter
- p.Gly47Arg Single submitter ⚠
- p.Gly47Glu Single submitter ⚠
- p.His158Gln Single submitter ⚠
- p.Ile283Asn Single submitter ⚠
- p.Leu111Arg Single submitter ⚠
- p.Leu130Phe Single submitter ⚠
- p.Leu192Arg Single submitter ⚠
- p.Leu52Pro Single submitter ⚠
- p.Lys213Glu Single submitter ⚠
- p.Phe347Leu Single submitter ⚠
- p.Pro104Ala Single submitter ⚠
- p.Pro247Ala Single submitter ⚠
- p.Pro255Thr Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Pro84Leu Single submitter ⚠
- p.Ser132Phe Single submitter ⚠
- p.Ser133Leu Single submitter ⚠
- p.Ser135Leu Single submitter ⚠
- p.Ser166Arg Single submitter ⚠
- p.Ser172Arg Single submitter ⚠
- p.Ser23Ile Single submitter ⚠
- p.Ser276Ter Single submitter AJAP1-related disorder
- p.Ser375Leu Single submitter ⚠
- p.Ser65Arg Single submitter ⚠
- p.Ser80Arg Single submitter ⚠
- p.Thr176Ile Single submitter ⚠
- p.Thr220Pro Single submitter ⚠
- p.Thr252Ala Single submitter ⚠
- p.Thr253Lys Single submitter ⚠
- p.Thr376Ser Single submitter ⚠
- p.Trp183Cys No assertion criteria ⚠