XPNPEP1 — 80 ClinVar variants
All ClinVar germline XPNPEP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
5 Likely benign · 75 Uncertain significance
Full XPNPEP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll XPNPEP1 variants
Likely benign 5
- p.Asn630Ser Single submitter
- p.Gly42Ser Single submitter
- p.Thr473= Single submitter
- p.Val501Ile Single submitter
- p.Val638Met No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 75
- p.Ala114Thr Single submitter
- p.Ala233Ser Single submitter
- p.Ala287Val Single submitter
- p.Ala302Val Single submitter
- p.Ala405Val Single submitter
- p.Ala518Val Single submitter
- p.Ala59Pro Single submitter
- p.Ala59Thr Single submitter
- p.Ala59Val Single submitter
- p.Arg201His Single submitter
- p.Arg235Trp Single submitter
- p.Arg350Cys Single submitter
- p.Arg375Gln Single submitter
- p.Arg413His Single submitter
- p.Arg516Cys Single submitter
- p.Arg54Gln Single submitter
- p.Arg54Trp Single submitter
- p.Arg597Gln Single submitter
- p.Arg61Gly Single submitter
- p.Arg636Lys Single submitter
- p.Arg648Cys Single submitter
- p.Arg92Gln Single submitter
- p.Asn539Tyr Single submitter
- p.Asp223Gly Single submitter
- p.Asp227Ala Single submitter
- p.Asp283Glu Single submitter
- p.Asp521Asn Single submitter
- p.Asp79His Single submitter
- p.Cys359Ser Single submitter
- p.Cys89Trp Single submitter
- p.Gln15His Single submitter
- p.Gln644His Single submitter
- p.Glu110Asp Single submitter
- p.Glu191Gly Single submitter
- p.Glu274Asp Single submitter
- p.Glu29Lys Single submitter
- p.Glu29Val Single submitter
- p.Glu317Lys Single submitter
- p.Glu343Lys Single submitter
- p.Glu39Ala Single submitter
- p.Glu603Asp Single submitter
- p.Glu642Lys Single submitter
- p.Gly183Ser Single submitter
- p.Gly272Ala Single submitter
- p.Gly37Asp Single submitter
- p.His632Gln Single submitter
- p.Ile219Val Single submitter
- p.Ile271Thr Single submitter
- p.Ile457Thr Single submitter
- p.Ile579Val Single submitter
- p.Ile615Met Single submitter
- p.Ile615Val Single submitter
- p.Ile639Thr Single submitter
- p.Ile656Leu Single submitter
- p.Ile74Val Single submitter
- p.Lys291Arg Single submitter
- p.Lys623Arg Single submitter
- p.Met238Leu Single submitter
- p.Met238Thr Single submitter
- p.Met353Val Single submitter
- p.Met474Val Single submitter
- p.Met561Val Single submitter
- p.Pro441Gln Single submitter
- p.Ser131Gly Single submitter
- p.Ser152Asn Single submitter
- p.Ser289Arg Single submitter
- p.Ser326Ala Single submitter
- p.Ser83Gly Single submitter
- p.Thr430Met Single submitter
- p.Thr471Met Single submitter
- p.Thr67Ser Single submitter
- p.Tyr463Cys Single submitter
- p.Val241Leu Single submitter
- p.Val442Gly Single submitter
- p.Val617Met Single submitter