AP1G2 — 133 ClinVar variants

All ClinVar germline AP1G2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

1 Likely pathogenic · 8 Likely benign · 124 Uncertain significance

Full AP1G2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 127

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

AP1G2 p.Arg155His Likely pathogenic No assertion criteria
esophageal atresia/tracheoesophageal fistula

Predictors lean, ClinVar uncertain 50

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 76

The independent predictors disagree with each other — read with care.

All AP1G2 variants

Likely pathogenic 1

p.Arg155His No assertion criteria esophageal atresia/tracheoesophageal fistula ⚠

Likely benign 8

p.Arg356Gln Single submitter ⚠
p.Arg736Gln Single submitter
p.Asp764Asn Single submitter
p.Glu604Ala Single submitter
p.His433Tyr Single submitter
p.His653Tyr Single submitter ⚠
p.Ile496Thr Single submitter
p.Pro118Ala Single submitter

Uncertain significance 124

p.Ala181Pro Single submitter ⚠
p.Ala360Thr Single submitter ⚠
p.Ala430Val Single submitter ⚠
p.Ala465Glu Single submitter ⚠
p.Ala508Thr Single submitter ⚠
p.Ala527Val Single submitter ⚠
p.Ala76Thr Single submitter ⚠
p.Arg137Gln Single submitter ⚠
p.Arg155Cys Single submitter ⚠
p.Arg211Ser Single submitter ⚠
p.Arg225Gln Single submitter ⚠
p.Arg225Trp Single submitter ⚠
p.Arg252Cys Single submitter ⚠
p.Arg259Gln Single submitter ⚠
p.Arg283Gln Single submitter ⚠
p.Arg301Cys Single submitter ⚠
p.Arg307Gln Single submitter ⚠
p.Arg316Cys Single submitter ⚠
p.Arg316His Single submitter ⚠
p.Arg326Ser Single submitter ⚠
p.Arg348Trp Single submitter ⚠
p.Arg356Pro Single submitter ⚠
p.Arg364Trp Single submitter ⚠
p.Arg36Leu Single submitter ⚠
p.Arg380Gln Single submitter ⚠
p.Arg435Gln Single submitter ⚠
p.Arg435Trp Single submitter ⚠
p.Arg458Cys Single submitter ⚠
p.Arg458His Single submitter ⚠
p.Arg459His Single submitter ⚠
p.Arg537His Single submitter ⚠
p.Arg546His Single submitter ⚠
p.Arg572Gln Single submitter ⚠
p.Arg572Trp Single submitter ⚠
p.Arg590Gln Single submitter ⚠
p.Arg736Trp Single submitter ⚠
p.Arg760Cys Single submitter ⚠
p.Asn287Thr Single submitter ⚠
p.Asn749Ser Single submitter ⚠
p.Asn751Lys Single submitter ⚠
p.Asn777His Single submitter ⚠
p.Asp138Glu Single submitter ⚠
p.Asp243Glu Single submitter ⚠
p.Asp359His Single submitter ⚠
p.Asp437Asn Single submitter ⚠
p.Asp43Asn Single submitter ⚠
p.Asp575Asn Single submitter ⚠
p.Asp656Tyr Single submitter ⚠
p.Cys125Tyr Single submitter ⚠
p.Cys180Arg Single submitter ⚠
p.Cys539Tyr Single submitter ⚠
p.Cys713Ser Single submitter ⚠
p.Gln219His Single submitter ⚠
p.Gln50Lys Single submitter ⚠
p.Gln515Arg Single submitter ⚠
p.Gln515His Single submitter ⚠
p.Gln619Pro Single submitter ⚠
p.Gln622His Single submitter ⚠
p.Gln724His Single submitter ⚠
p.Gln9Arg Single submitter ⚠
p.Glu14Asp Single submitter ⚠
p.Glu483Ala Single submitter ⚠
p.Glu589Lys Single submitter ⚠
p.Glu705Val Single submitter ⚠
p.Gly190Ser Single submitter AP1G2-related disorder ⚠
p.Gly194Asp Single submitter ⚠
p.Gly447Trp Single submitter ⚠
p.Gly649Asp Single submitter ⚠
p.Gly737Asp Single submitter ⚠
p.Gly738Ser Single submitter ⚠
p.Gly86Asp Single submitter ⚠
p.His189Arg Single submitter ⚠
p.His347Gln Single submitter ⚠
p.His48Gln Single submitter ⚠
p.His765Arg Single submitter ⚠
p.Ile12Ser Single submitter ⚠
p.Ile15Leu Single submitter ⚠
p.Ile196Met Single submitter ⚠
p.Ile223Asn Single submitter ⚠
p.Ile297Asn Single submitter ⚠
p.Ile420Val Single submitter ⚠
p.Ile423Val Single submitter ⚠
p.Ile747Phe Single submitter ⚠
p.Leu202Phe Single submitter ⚠
p.Leu309Pro Single submitter ⚠
p.Leu373Pro Single submitter ⚠
p.Leu373Val Single submitter ⚠
p.Leu442Val Single submitter ⚠
p.Leu587Pro Single submitter ⚠
p.Leu587Val Single submitter ⚠
p.Met69Val Single submitter ⚠
p.Phe412Leu Single submitter ⚠
p.Phe571Cys Single submitter ⚠
p.Phe673Cys Single submitter ⚠
p.Pro394Leu Single submitter ⚠
p.Pro44Gln Single submitter ⚠
p.Pro472Ser Single submitter ⚠
p.Pro521Ser Single submitter ⚠
p.Pro645Leu Single submitter ⚠
p.Pro661Ser Single submitter ⚠
p.Pro691Thr Single submitter ⚠
p.Pro740Arg Single submitter ⚠
p.Ser151Arg Single submitter ⚠
p.Ser206Arg Single submitter ⚠
p.Ser206Asn Single submitter ⚠
p.Ser363Thr Single submitter ⚠
p.Ser535Gly Single submitter ⚠
p.Ser554Asn Single submitter ⚠
p.Ser554Gly Single submitter ⚠
p.Thr200Met Single submitter ⚠
p.Thr20Ile Single submitter ⚠
p.Thr229Ala Single submitter ⚠
p.Thr229Ile Single submitter ⚠
p.Thr293Ile Single submitter ⚠
p.Thr429Met Single submitter ⚠
p.Thr569Ile Single submitter ⚠
p.Tyr574His Single submitter ⚠
p.Tyr87His Single submitter Global developmental delay ⚠
p.Val119Ala Single submitter ⚠
p.Val217Gly Single submitter ⚠
p.Val513Leu Single submitter ⚠
p.Val548Ala Single submitter ⚠
p.Val548Met Single submitter ⚠
p.Val708Ile Single submitter ⚠