XPNPEP2 — 106 ClinVar variants
All ClinVar germline XPNPEP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →
4 Benign · 22 Likely benign · 80 Uncertain significance
Full XPNPEP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 74
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 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- XPNPEP2 p.Pro158Leu Uncertain significance Multiple submitters
- XPNPEP2 p.Ala150Thr Uncertain significance Single submitter
- XPNPEP2 p.Ala398Pro Uncertain significance Single submitter
- XPNPEP2 p.Ala426Ser Uncertain significance Single submitter
- XPNPEP2 p.Ala496Thr Uncertain significance Single submitter
- XPNPEP2 p.Ala514Thr Uncertain significance Single submitter
- XPNPEP2 p.Ala668Val Uncertain significance Single submitter
- XPNPEP2 p.Arg281His Uncertain significance Single submitter
- XPNPEP2 p.Arg309Cys Uncertain significance Single submitter
- XPNPEP2 p.Arg405Gln Uncertain significance Single submitter
- XPNPEP2 p.Arg567Cys Uncertain significance Single submitter
- XPNPEP2 p.Arg598Gln Uncertain significance Single submitter
- XPNPEP2 p.Arg622Gln Uncertain significance Single submitter
- XPNPEP2 p.Arg622Leu Uncertain significance Single submitter
- XPNPEP2 p.Arg631Gly Uncertain significance Single submitter
-
XPNPEP2 p.Asn250His
Uncertain significance
Single submitter
susceptibility to angioedema induced by ACE inhibitors
- XPNPEP2 p.Asn542His Uncertain significance Single submitter
- XPNPEP2 p.Asp114Asn Uncertain significance Single submitter
- XPNPEP2 p.Asp270His Uncertain significance Single submitter
- XPNPEP2 p.Asp27Ala Uncertain significance Single submitter
- XPNPEP2 p.Asp319Asn Uncertain significance Single submitter
- XPNPEP2 p.Asp450Ala Uncertain significance Single submitter
- XPNPEP2 p.Glu303Lys Uncertain significance Single submitter
-
XPNPEP2 p.Glu361Lys
Uncertain significance
Single submitter
primary ovarian failure
- XPNPEP2 p.Glu569Gln Uncertain significance Single submitter
- XPNPEP2 p.Glu80Lys Uncertain significance Single submitter
- XPNPEP2 p.Glu87Gln Uncertain significance Single submitter
- XPNPEP2 p.Gly136Ser Uncertain significance Single submitter
- XPNPEP2 p.Gly222Arg Uncertain significance Single submitter
- XPNPEP2 p.Gly453Glu Uncertain significance Single submitter
- XPNPEP2 p.Gly523Ser Uncertain significance Single submitter
- XPNPEP2 p.Gly525Ser Uncertain significance Single submitter
- XPNPEP2 p.His610Arg Uncertain significance Single submitter
- XPNPEP2 p.Ile140Val Uncertain significance Single submitter
- XPNPEP2 p.Ile337Leu Uncertain significance Single submitter
- XPNPEP2 p.Ile484Leu Uncertain significance Single submitter
- XPNPEP2 p.Leu238Ile Uncertain significance Single submitter
- XPNPEP2 p.Leu28Val Uncertain significance Single submitter
- XPNPEP2 p.Lys403Gln Uncertain significance Single submitter
- XPNPEP2 p.Met125Leu Uncertain significance Single submitter
- XPNPEP2 p.Met125Lys Uncertain significance Single submitter
- XPNPEP2 p.Phe588Val Uncertain significance Single submitter
- XPNPEP2 p.Pro198Leu Uncertain significance Single submitter
- XPNPEP2 p.Pro388Leu Uncertain significance Single submitter
- XPNPEP2 p.Pro41Ala Uncertain significance Single submitter
- XPNPEP2 p.Pro471Leu Uncertain significance Single submitter
- XPNPEP2 p.Ser168Gly Uncertain significance Single submitter
- XPNPEP2 p.Ser316Leu Uncertain significance Single submitter
- XPNPEP2 p.Ser396Ala Uncertain significance Single submitter
- XPNPEP2 p.Ser592Pro Uncertain significance Single submitter
- XPNPEP2 p.Thr185Ala Uncertain significance Single submitter
- XPNPEP2 p.Thr266Met Uncertain significance Single submitter
- XPNPEP2 p.Tyr559His Uncertain significance Single submitter
- XPNPEP2 p.Val111Ile Uncertain significance Single submitter
- XPNPEP2 p.Val220Ala Uncertain significance Single submitter
- XPNPEP2 p.Val237Ile Uncertain significance Single submitter
- XPNPEP2 p.Val571Met Uncertain significance Single submitter
- XPNPEP2 p.Val574Met Uncertain significance Single submitter
- XPNPEP2 p.Ile92Val Uncertain significance No assertion criteria
- XPNPEP2 p.Tyr117His Uncertain significance No assertion criteria
Predictors split 14
The independent predictors disagree with each other — read with care.
- XPNPEP2 p.Ala172Asp Uncertain significance Single submitter
- XPNPEP2 p.Ala398Thr Uncertain significance Single submitter
- XPNPEP2 p.Arg153His Uncertain significance Single submitter
- XPNPEP2 p.Arg371Trp Uncertain significance Single submitter
- XPNPEP2 p.Arg481His Uncertain significance Single submitter
- XPNPEP2 p.Glu147Lys Uncertain significance Single submitter
- XPNPEP2 p.Glu407Val Uncertain significance Single submitter
- XPNPEP2 p.Glu504Ala Uncertain significance Single submitter
- XPNPEP2 p.Gly562Glu Uncertain significance Single submitter
- XPNPEP2 p.Leu187Pro Uncertain significance Single submitter
- XPNPEP2 p.Ser240Leu Uncertain significance Single submitter
- XPNPEP2 p.Thr418Ala Uncertain significance Single submitter
- XPNPEP2 p.Tyr263Asp Uncertain significance Single submitter
- XPNPEP2 p.Val343Met Uncertain significance Single submitter
All XPNPEP2 variants
Benign 4
- c.50-106G>A Multiple submitters
- c.*163C>A Multiple submitters
- p.Pro149= Multiple submitters
- c.50-283C>T Single submitter
Likely benign 22
- c.404-8T>C Multiple submitters
- c.1017+11C>T Single submitter
- p.Ala363= Single submitter
- p.Arg371= Single submitter
- p.Arg3Trp Single submitter
- p.Asn186= Single submitter
- p.Glu639Lys Single submitter
- p.Gly21= Single submitter
- p.Gly452= Single submitter
- p.Ile148Val Single submitter
- p.Leu605= Single submitter
- p.Lys366Arg Single submitter
- p.Pro203= Single submitter
- p.Pro433= Single submitter
- p.Pro582= Single submitter
- p.Ser396= Single submitter
- p.Ser411Phe Single submitter
- p.Ser665= Single submitter
- p.Thr286= Single submitter
- p.Tyr618= Single submitter
- p.Val181= Single submitter
- p.Val661Leu Single submitter
Uncertain significance 80
- p.Pro158Leu Multiple submitters ⚠
- p.Ala150Thr Single submitter ⚠
- p.Ala172Asp Single submitter ⚠
- p.Ala398Pro Single submitter ⚠
- p.Ala398Thr Single submitter ⚠
- p.Ala426Ser Single submitter ⚠
- p.Ala496Thr Single submitter ⚠
- p.Ala514Thr Single submitter ⚠
- p.Ala668Val Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg281His Single submitter ⚠
- p.Arg309Cys Single submitter ⚠
- p.Arg371Trp Single submitter ⚠
- p.Arg405Gln Single submitter ⚠
- p.Arg481His Single submitter ⚠
- p.Arg567Cys Single submitter ⚠
- p.Arg598Gln Single submitter ⚠
- p.Arg622Gln Single submitter ⚠
- p.Arg622Leu Single submitter ⚠
- p.Arg631Gly Single submitter ⚠
- p.Asn250His Single submitter susceptibility to angioedema induced by ACE inhibitors ⚠
- p.Asn542His Single submitter ⚠
- p.Asp114Asn Single submitter ⚠
- p.Asp270His Single submitter ⚠
- p.Asp27Ala Single submitter ⚠
- p.Asp319Asn Single submitter ⚠
- p.Asp450Ala Single submitter ⚠
- p.Asp457Asn Single submitter
- p.Glu147Lys Single submitter ⚠
- p.Glu303Lys Single submitter ⚠
- p.Glu361Lys Single submitter primary ovarian failure ⚠
- p.Glu407Val Single submitter ⚠
- p.Glu408Val Single submitter
- p.Glu504Ala Single submitter ⚠
- p.Glu569Gln Single submitter ⚠
- p.Glu80Lys Single submitter ⚠
- p.Glu87Gln Single submitter ⚠
- p.Gly136Ser Single submitter ⚠
- p.Gly222Arg Single submitter ⚠
- p.Gly332Arg Single submitter
- p.Gly332Glu Single submitter
- p.Gly453Glu Single submitter ⚠
- p.Gly523Ser Single submitter ⚠
- p.Gly525Ser Single submitter ⚠
- p.Gly562Glu Single submitter ⚠
- p.His610Arg Single submitter ⚠
- p.Ile140Val Single submitter ⚠
- p.Ile337Leu Single submitter ⚠
- p.Ile484Leu Single submitter ⚠
- p.Leu187Pro Single submitter ⚠
- p.Leu238Ile Single submitter ⚠
- p.Leu28Val Single submitter ⚠
- p.Lys403Gln Single submitter ⚠
- p.Met125Leu Single submitter ⚠
- p.Met125Lys Single submitter ⚠
- p.Phe588Val Single submitter ⚠
- p.Pro198Leu Single submitter ⚠
- p.Pro388Leu Single submitter ⚠
- p.Pro41Ala Single submitter ⚠
- p.Pro44Leu Single submitter
- p.Pro471Leu Single submitter ⚠
- p.Ser168Gly Single submitter ⚠
- p.Ser240Leu Single submitter ⚠
- p.Ser316Leu Single submitter ⚠
- p.Ser396Ala Single submitter ⚠
- p.Ser592Pro Single submitter ⚠
- p.Thr185Ala Single submitter ⚠
- p.Thr266Met Single submitter ⚠
- p.Thr418Ala Single submitter ⚠
- p.Tyr263Asp Single submitter ⚠
- p.Tyr559His Single submitter ⚠
- p.Val111Ile Single submitter ⚠
- p.Val220Ala Single submitter ⚠
- p.Val237Ile Single submitter ⚠
- p.Val343Met Single submitter ⚠
- p.Val571Met Single submitter ⚠
- p.Val574Met Single submitter ⚠
- p.Ile92Val No assertion criteria ⚠
- p.Lys133= No assertion criteria
- p.Tyr117His No assertion criteria ⚠