ERAP2 — 123 ClinVar variants

All ClinVar germline ERAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →

5 Benign · 1 Benign/Likely benign · 7 Likely benign · 110 Uncertain significance

Full ERAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 114

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 55

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

Predictors split 59

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

All ERAP2 variants

Benign 5

c.1503+3_1503+102dup Single submitter
p.Cys421Tyr Single submitter ⚠
p.Ile898= Single submitter
p.Leu430= Single submitter
p.Val239Ala Single submitter ⚠

Benign/Likely benign 1

p.Leu411Arg Multiple submitters ⚠

Likely benign 7

p.Arg20Thr Single submitter
p.Arg293Trp Single submitter
p.Gly556= Single submitter
p.Met131Arg Single submitter
p.Phe62Tyr Single submitter ⚠
p.Ser303= Single submitter
p.Ser705Leu Single submitter ⚠

Uncertain significance 110

p.Ala195Ser Single submitter ⚠
p.Ala358Asp Single submitter ⚠
p.Ala373Glu Single submitter ⚠
p.Ala403Thr Single submitter ⚠
p.Ala440Val Single submitter ⚠
p.Ala490Asp Single submitter ⚠
p.Ala6Thr Single submitter ⚠
p.Ala861Val Single submitter ⚠
p.Ala903Thr Single submitter ⚠
p.Arg205His Single submitter ⚠
p.Arg293Gln Single submitter ⚠
p.Arg434Ser Single submitter ⚠
p.Arg736Lys Single submitter ⚠
p.Arg751His Single submitter ⚠
p.Arg865His Single submitter ⚠
p.Asn103Ser Single submitter ⚠
p.Asn492Tyr Single submitter ⚠
p.Asn714Lys Single submitter ⚠
p.Asn762Asp Single submitter ⚠
p.Asp789Asn Single submitter ⚠
p.Asp789Val Single submitter ⚠
p.Asp79Val Single submitter ⚠
p.Asp929Tyr Single submitter ⚠
p.Cys210Tyr Single submitter ⚠
p.Cys35Phe Single submitter ⚠
p.Gln295Leu Single submitter ⚠
p.Gln562Pro Single submitter ⚠
p.Gln811Glu Single submitter ⚠
p.Gln912Arg Single submitter ⚠
p.Glu213Ter Single submitter
p.Glu393Lys Single submitter ⚠
p.Glu582Lys Single submitter ⚠
p.Glu60Gln Single submitter ⚠
p.Glu813Lys Single submitter ⚠
p.Glu846Lys Single submitter ⚠
p.Glu936Gly Single submitter ⚠
p.Glu98Lys Single submitter ⚠
p.Gly175Asp Single submitter ⚠
p.Gly281Glu Single submitter ⚠
p.Gly394Ser Single submitter ⚠
p.Gly477Arg Single submitter ⚠
p.Gly59Ala Single submitter ⚠
p.Gly59Val Single submitter ⚠
p.Gly629Ser Single submitter ⚠
p.Gly782Glu Single submitter ⚠
p.His252Asp Single submitter ⚠
p.His882Tyr Single submitter ⚠
p.Ile286Met Single submitter ⚠
p.Ile28Thr Single submitter ⚠
p.Ile342Thr Single submitter ⚠
p.Ile461Asn Single submitter ⚠
p.Ile632Asn Single submitter ⚠
p.Ile718Thr Single submitter ⚠
p.Ile841Val Single submitter ⚠
p.Ile898Asn Single submitter ⚠
p.Leu110Ser Single submitter ⚠
p.Leu215Phe Single submitter ⚠
p.Leu643Phe Single submitter ⚠
p.Leu653Ile Single submitter ⚠
p.Leu722His Single submitter ⚠
p.Leu726His Single submitter ⚠
p.Leu773Ile Single submitter ⚠
p.Leu858Val Single submitter ⚠
p.Lys427Gln Single submitter ⚠
p.Lys491Asn Single submitter ⚠
p.Lys553Thr Single submitter ⚠
p.Met131Val Single submitter ⚠
p.Met259Lys Single submitter ⚠
p.Met537Ile Single submitter ⚠
p.Met538Arg Single submitter ⚠
p.Met538Ile Single submitter ⚠
p.Met816Val Single submitter ⚠
p.Met845Thr Single submitter ⚠
p.Phe38Leu Single submitter ⚠
p.Phe905Ser Single submitter ⚠
p.Phe918Leu Single submitter ⚠
p.Pro133Arg Single submitter ⚠
p.Pro30His Single submitter ⚠
p.Pro548Ser Single submitter ⚠
p.Pro548Thr Single submitter ⚠
p.Pro656Leu Single submitter ⚠
p.Ser182Gly Single submitter ⚠
p.Ser228Arg Single submitter ⚠
p.Ser234Phe Single submitter ⚠
p.Ser279Ala Single submitter ⚠
p.Ser43Thr Single submitter ⚠
p.Ser593Thr Single submitter ⚠
p.Ser752Leu Single submitter ⚠
p.Ser781Gly Single submitter ⚠
p.Ser781Thr Single submitter ⚠
p.Ser817Thr Single submitter ⚠
p.Ser94Phe Single submitter ⚠
p.Thr121Ile Single submitter ⚠
p.Thr186Pro Single submitter ⚠
p.Thr256Ala Single submitter ⚠
p.Thr594Met Single submitter ⚠
p.Thr676Asn Single submitter ⚠
p.Thr802Ile Single submitter ⚠
p.Thr933Pro Single submitter ⚠
p.Trp496Arg Single submitter ⚠
p.Trp496Leu Single submitter ⚠
p.Tyr266Cys Single submitter ⚠
p.Tyr592Asn Single submitter ⚠
p.Tyr635Cys Single submitter ⚠
p.Val257Ile Single submitter ⚠
p.Val284Glu Single submitter ⚠
p.Val552Asp Single submitter ⚠
p.Val570Phe Single submitter ⚠
p.Val934Ala Single submitter ⚠
p.Val958Gly Single submitter ⚠