AP2A1 — 113 ClinVar variants
All ClinVar germline AP2A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →
2 Benign · 3 Likely benign · 108 Uncertain significance
Full AP2A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 109
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AP2A1 c.2114+403C>T Uncertain significance Single submitter
- AP2A1 c.2115-371C>A Uncertain significance Single submitter
- AP2A1 c.2115-383T>C Uncertain significance Single submitter
- AP2A1 c.2115-383T>G Uncertain significance Single submitter
- AP2A1 c.2115-384A>G Uncertain significance Single submitter
- AP2A1 c.2115-384A>T Uncertain significance Single submitter
- AP2A1 p.Ala207Val Uncertain significance Single submitter
- AP2A1 p.Ala376Asp Uncertain significance Single submitter
- AP2A1 p.Ala784Val Uncertain significance Single submitter
- AP2A1 p.Ala827Val Uncertain significance Single submitter
- AP2A1 p.Ala849Thr Uncertain significance Single submitter
- AP2A1 p.Arg191Cys Uncertain significance Single submitter
- AP2A1 p.Arg191His Uncertain significance Single submitter
- AP2A1 p.Arg263Trp Uncertain significance Single submitter
- AP2A1 p.Arg279Trp Uncertain significance Single submitter
- AP2A1 p.Arg341Gln Uncertain significance Single submitter
- AP2A1 p.Arg386Gln Uncertain significance Single submitter
- AP2A1 p.Arg386Trp Uncertain significance Single submitter
- AP2A1 p.Arg472Cys Uncertain significance Single submitter
- AP2A1 p.Arg564Gln Uncertain significance Single submitter
- AP2A1 p.Arg632Gln Uncertain significance Single submitter
- AP2A1 p.Arg633Thr Uncertain significance Single submitter
- AP2A1 p.Arg945His Uncertain significance Single submitter
- AP2A1 p.Asn325Ser Uncertain significance Single submitter
- AP2A1 p.Asn375Ser Uncertain significance Single submitter
- AP2A1 p.Asn641Asp Uncertain significance Single submitter
- AP2A1 p.Asn641Ser Uncertain significance Single submitter
- AP2A1 p.Asn680Asp Uncertain significance Single submitter
- AP2A1 p.Asp181Glu Uncertain significance Single submitter
- AP2A1 p.Asp719Glu Uncertain significance Single submitter
- AP2A1 p.Gln801Pro Uncertain significance Single submitter
- AP2A1 p.Glu145Lys Uncertain significance Single submitter
- AP2A1 p.Glu701Asp Uncertain significance Single submitter
- AP2A1 p.Gly202Asp Uncertain significance Single submitter
- AP2A1 p.Gly202Cys Uncertain significance Single submitter
- AP2A1 p.Gly688Val Uncertain significance Single submitter
- AP2A1 p.Gly908Arg Uncertain significance Single submitter
- AP2A1 p.His363Asn Uncertain significance Single submitter
- AP2A1 p.Ile154Thr Uncertain significance Single submitter
- AP2A1 p.Ile711Ser Uncertain significance Single submitter
- AP2A1 p.Leu175Pro Uncertain significance Single submitter
- AP2A1 p.Leu244Pro Uncertain significance Single submitter
- AP2A1 p.Leu921Phe Uncertain significance Single submitter
- AP2A1 p.Lys260Asn Uncertain significance Single submitter
- AP2A1 p.Lys260Met Uncertain significance Single submitter
- AP2A1 p.Lys834Arg Uncertain significance Single submitter
- AP2A1 p.Met396Thr Uncertain significance Single submitter
- AP2A1 p.Met931Ile Uncertain significance Single submitter
- AP2A1 p.Phe734Leu Uncertain significance Single submitter
- AP2A1 p.Pro294Ser Uncertain significance Single submitter
- AP2A1 p.Pro656Ser Uncertain significance Single submitter
- AP2A1 p.Pro708Ser Uncertain significance Single submitter
- AP2A1 p.Pro776Arg Uncertain significance Single submitter
- AP2A1 p.Ser770Leu Uncertain significance Single submitter
- AP2A1 p.Thr205Met Uncertain significance Single submitter
- AP2A1 p.Thr355Met Uncertain significance Single submitter
- AP2A1 p.Thr650Ala Uncertain significance Single submitter
- AP2A1 p.Thr838Ser Uncertain significance Single submitter
- AP2A1 p.Val192Ala Uncertain significance Single submitter
- AP2A1 p.Val252Ile Uncertain significance Single submitter
- AP2A1 p.Val469Ile Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- AP2A1 c.2115-363G>A Uncertain significance Single submitter
- AP2A1 c.2115-372G>A Uncertain significance Single submitter
- AP2A1 c.2115-393G>A Uncertain significance Single submitter
- AP2A1 c.2115-395C>A Uncertain significance Single submitter
- AP2A1 p.Ala146Thr Uncertain significance Single submitter
- AP2A1 p.Ala149Thr Uncertain significance Single submitter
- AP2A1 p.Ala850Asp Uncertain significance Single submitter
- AP2A1 p.Ala867Val Uncertain significance Single submitter
- AP2A1 p.Arg110His Uncertain significance Single submitter
- AP2A1 p.Arg263Gln Uncertain significance Single submitter
- AP2A1 p.Arg279Gln Uncertain significance Single submitter
- AP2A1 p.Arg823Trp Uncertain significance Single submitter
- AP2A1 p.Asn86Ser Uncertain significance Single submitter
- AP2A1 p.Asp684Asn Uncertain significance Single submitter
- AP2A1 p.Asp684Gly Uncertain significance Single submitter
- AP2A1 p.Glu700Lys Uncertain significance Single submitter
- AP2A1 p.Gly278Glu Uncertain significance Single submitter
- AP2A1 p.Gly662Glu Uncertain significance Single submitter
- AP2A1 p.Gly796Arg Uncertain significance Single submitter
- AP2A1 p.Ile72Val Uncertain significance Single submitter
- AP2A1 p.Leu779Phe Uncertain significance Single submitter
- AP2A1 p.Leu862Phe Uncertain significance Single submitter
- AP2A1 p.Lys24Arg Uncertain significance Single submitter
- AP2A1 p.Met396Ile Uncertain significance Single submitter
- AP2A1 p.Phe361Leu Uncertain significance Single submitter
- AP2A1 p.Pro269Leu Uncertain significance Single submitter
- AP2A1 p.Pro270Thr Uncertain significance Single submitter
- AP2A1 p.Pro490Ser Uncertain significance Single submitter
- AP2A1 p.Pro669Thr Uncertain significance Single submitter
- AP2A1 p.Pro672Ser Uncertain significance Single submitter
- AP2A1 p.Pro673Leu Uncertain significance Single submitter
- AP2A1 p.Pro693Ser Uncertain significance Single submitter
- AP2A1 p.Pro714Leu Uncertain significance Single submitter
- AP2A1 p.Pro776Leu Uncertain significance Single submitter
- AP2A1 p.Pro828Ser Uncertain significance Single submitter
- AP2A1 p.Ser163Asn Uncertain significance Single submitter
- AP2A1 p.Ser407Leu Uncertain significance Single submitter
- AP2A1 p.Ser591Thr Uncertain significance Single submitter
- AP2A1 p.Ser694Arg Uncertain significance Single submitter
- AP2A1 p.Thr224Met Uncertain significance Single submitter
- AP2A1 p.Thr379Met Uncertain significance Single submitter
- AP2A1 p.Thr415Ala Uncertain significance Single submitter
- AP2A1 p.Thr653Met Uncertain significance Single submitter
- AP2A1 p.Tyr320Cys Uncertain significance Single submitter
- AP2A1 p.Val208Ile Uncertain significance Single submitter
- AP2A1 p.Val226Ile Likely benign Single submitter
- AP2A1 p.Val475Ile Uncertain significance Single submitter
- AP2A1 p.Val581Met Uncertain significance Single submitter
All AP2A1 variants
Benign 2
- c.2115-388C>T Multiple submitters
- p.Ala365= Multiple submitters
Likely benign 3
- c.2114+393C>T Single submitter
- p.Ser518= Single submitter
- p.Val226Ile Single submitter ⚠
Uncertain significance 108
- c.2114+403C>T Single submitter ⚠
- c.2115-363G>A Single submitter ⚠
- c.2115-371C>A Single submitter ⚠
- c.2115-372G>A Single submitter ⚠
- c.2115-383T>C Single submitter ⚠
- c.2115-383T>G Single submitter ⚠
- c.2115-384A>G Single submitter ⚠
- c.2115-384A>T Single submitter ⚠
- c.2115-393G>A Single submitter ⚠
- c.2115-395C>A Single submitter ⚠
- p.Ala146Thr Single submitter ⚠
- p.Ala149Thr Single submitter ⚠
- p.Ala207Val Single submitter ⚠
- p.Ala376Asp Single submitter ⚠
- p.Ala784Val Single submitter ⚠
- p.Ala827Val Single submitter ⚠
- p.Ala849Thr Single submitter ⚠
- p.Ala850Asp Single submitter ⚠
- p.Ala867Val Single submitter ⚠
- p.Arg110His Single submitter ⚠
- p.Arg191Cys Single submitter ⚠
- p.Arg191His Single submitter ⚠
- p.Arg263Gln Single submitter ⚠
- p.Arg263Trp Single submitter ⚠
- p.Arg279Gln Single submitter ⚠
- p.Arg279Trp Single submitter ⚠
- p.Arg341Gln Single submitter ⚠
- p.Arg386Gln Single submitter ⚠
- p.Arg386Trp Single submitter ⚠
- p.Arg472Cys Single submitter ⚠
- p.Arg564Gln Single submitter ⚠
- p.Arg632Gln Single submitter ⚠
- p.Arg633Thr Single submitter ⚠
- p.Arg823Trp Single submitter ⚠
- p.Arg945His Single submitter ⚠
- p.Asn325Ser Single submitter ⚠
- p.Asn375Ser Single submitter ⚠
- p.Asn641Asp Single submitter ⚠
- p.Asn641Ser Single submitter ⚠
- p.Asn680Asp Single submitter ⚠
- p.Asn86Ser Single submitter ⚠
- p.Asp181Glu Single submitter ⚠
- p.Asp684Asn Single submitter ⚠
- p.Asp684Gly Single submitter ⚠
- p.Asp719Glu Single submitter ⚠
- p.Gln801Pro Single submitter ⚠
- p.Glu145Lys Single submitter ⚠
- p.Glu700Lys Single submitter ⚠
- p.Glu701Asp Single submitter ⚠
- p.Gly202Asp Single submitter ⚠
- p.Gly202Cys Single submitter ⚠
- p.Gly278Glu Single submitter ⚠
- p.Gly662Glu Single submitter ⚠
- p.Gly688Val Single submitter ⚠
- p.Gly796Arg Single submitter ⚠
- p.Gly908Arg Single submitter ⚠
- p.His363Asn Single submitter ⚠
- p.Ile154Thr Single submitter ⚠
- p.Ile711Ser Single submitter ⚠
- p.Ile72Val Single submitter ⚠
- p.Leu175Pro Single submitter ⚠
- p.Leu244Pro Single submitter ⚠
- p.Leu779Phe Single submitter ⚠
- p.Leu862Phe Single submitter ⚠
- p.Leu921Phe Single submitter ⚠
- p.Lys24Arg Single submitter ⚠
- p.Lys260Asn Single submitter ⚠
- p.Lys260Met Single submitter ⚠
- p.Lys834Arg Single submitter ⚠
- p.Met396Ile Single submitter ⚠
- p.Met396Thr Single submitter ⚠
- p.Met931Ile Single submitter ⚠
- p.Phe361Leu Single submitter ⚠
- p.Phe734Leu Single submitter ⚠
- p.Pro269Leu Single submitter ⚠
- p.Pro270Thr Single submitter ⚠
- p.Pro294Ser Single submitter ⚠
- p.Pro490Ser Single submitter ⚠
- p.Pro656Ser Single submitter ⚠
- p.Pro669Thr Single submitter ⚠
- p.Pro672Ser Single submitter ⚠
- p.Pro673Leu Single submitter ⚠
- p.Pro693Ser Single submitter ⚠
- p.Pro708Ser Single submitter ⚠
- p.Pro714Leu Single submitter ⚠
- p.Pro776Arg Single submitter ⚠
- p.Pro776Leu Single submitter ⚠
- p.Pro828Ser Single submitter ⚠
- p.Ser163Asn Single submitter ⚠
- p.Ser407Leu Single submitter ⚠
- p.Ser591Thr Single submitter ⚠
- p.Ser694Arg Single submitter ⚠
- p.Ser770Leu Single submitter ⚠
- p.Thr205Met Single submitter ⚠
- p.Thr224Met Single submitter ⚠
- p.Thr355Met Single submitter ⚠
- p.Thr379Met Single submitter ⚠
- p.Thr415Ala Single submitter ⚠
- p.Thr650Ala Single submitter ⚠
- p.Thr653Met Single submitter ⚠
- p.Thr838Ser Single submitter ⚠
- p.Tyr320Cys Single submitter ⚠
- p.Val192Ala Single submitter ⚠
- p.Val208Ile Single submitter ⚠
- p.Val252Ile Single submitter ⚠
- p.Val469Ile Single submitter ⚠
- p.Val475Ile Single submitter ⚠
- p.Val581Met Single submitter ⚠