ENPP2 — 132 ClinVar variants
All ClinVar germline ENPP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →
5 Benign · 1 Benign/Likely benign · 4 Likely benign · 122 Uncertain significance
Full ENPP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 115
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 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENPP2 p.Ala117Asp Uncertain significance Single submitter
- ENPP2 p.Ala155Val Uncertain significance Single submitter
- ENPP2 p.Ala159Val Uncertain significance Single submitter
- ENPP2 p.Ala176Glu Uncertain significance Single submitter
- ENPP2 p.Ala240Ser Uncertain significance Single submitter
- ENPP2 p.Ala271Thr Uncertain significance Single submitter
- ENPP2 p.Ala30Thr Uncertain significance Single submitter
- ENPP2 p.Arg350Gln Uncertain significance Single submitter
- ENPP2 p.Arg392Ser Uncertain significance Single submitter
- ENPP2 p.Arg536Leu Uncertain significance Single submitter
- ENPP2 p.Arg550Lys Uncertain significance Single submitter
- ENPP2 p.Arg585Gln Uncertain significance Single submitter
- ENPP2 p.Arg585Trp Uncertain significance Single submitter
- ENPP2 p.Arg62Ser Uncertain significance Single submitter
- ENPP2 p.Arg75Cys Uncertain significance Single submitter
- ENPP2 p.Arg99Cys Uncertain significance Single submitter
- ENPP2 p.Arg99His Uncertain significance Single submitter
- ENPP2 p.Asn113Ser Uncertain significance Single submitter
- ENPP2 p.Asn251Thr Uncertain significance Single submitter
- ENPP2 p.Asn532His Uncertain significance Single submitter
- ENPP2 p.Asn552Thr Uncertain significance Single submitter
- ENPP2 p.Asn78Ser Uncertain significance Single submitter
- ENPP2 p.Asp73Asn Uncertain significance Single submitter
- ENPP2 p.Asp73Gly Uncertain significance Single submitter
- ENPP2 p.Cys108Tyr Uncertain significance Single submitter
- ENPP2 p.Glu141Lys Uncertain significance Single submitter
- ENPP2 p.Glu546Gln Uncertain significance Single submitter
- ENPP2 p.Glu593Lys Uncertain significance Single submitter
- ENPP2 p.Glu862Lys Uncertain significance Single submitter
- ENPP2 p.Gly27Arg Uncertain significance Single submitter
- ENPP2 p.Gly322Val Uncertain significance Single submitter
- ENPP2 p.Gly38Arg Uncertain significance Single submitter
- ENPP2 p.His119Asp Uncertain significance Single submitter
- ENPP2 p.His143Gln Uncertain significance Single submitter
- ENPP2 p.His252Tyr Uncertain significance Single submitter
- ENPP2 p.His428Tyr Uncertain significance Single submitter
- ENPP2 p.His533Tyr Uncertain significance Single submitter
- ENPP2 p.His747Arg Uncertain significance Single submitter
- ENPP2 p.Ile409Met Uncertain significance Single submitter
- ENPP2 p.Ile771Val Uncertain significance Single submitter
- ENPP2 p.Leu516Phe Uncertain significance Single submitter
- ENPP2 p.Leu66Phe Uncertain significance Single submitter
- ENPP2 p.Lys153Arg Uncertain significance Single submitter
- ENPP2 p.Lys180Arg Uncertain significance Single submitter
- ENPP2 p.Lys853Glu Uncertain significance Single submitter
- ENPP2 p.Met179Val Uncertain significance Single submitter
- ENPP2 p.Met325Thr Uncertain significance Single submitter
- ENPP2 p.Met628Val Uncertain significance Single submitter
- ENPP2 p.Phe663Val Uncertain significance Single submitter
- ENPP2 p.Phe794Ser Uncertain significance Single submitter
- ENPP2 p.Pro212Ser Uncertain significance Single submitter
- ENPP2 p.Pro423Ala Uncertain significance Single submitter
- ENPP2 p.Pro43Leu Uncertain significance Single submitter
- ENPP2 p.Pro551Ala Uncertain significance Single submitter
- ENPP2 p.Pro690Ser Uncertain significance Single submitter
- ENPP2 p.Ser50Tyr Uncertain significance Single submitter
- ENPP2 p.Ser637Phe Uncertain significance Single submitter
- ENPP2 p.Ser6Ala Uncertain significance Single submitter
- ENPP2 p.Ser792Tyr Uncertain significance Single submitter
- ENPP2 p.Ser85Thr Uncertain significance Single submitter
- ENPP2 p.Thr45Lys Uncertain significance Single submitter
- ENPP2 p.Thr543Ser Uncertain significance Single submitter
- ENPP2 p.Thr616Ser Uncertain significance Single submitter
- ENPP2 p.Thr97Lys Uncertain significance Single submitter
- ENPP2 p.Tyr215His Uncertain significance Single submitter
- ENPP2 p.Val653Ile Uncertain significance Single submitter
Predictors split 49
The independent predictors disagree with each other — read with care.
- ENPP2 p.Arg799Trp Uncertain significance Multiple submitters
- ENPP2 p.Arg844Cys Benign/Likely benign Multiple submitters
- ENPP2 p.Ala522Val Uncertain significance Single submitter
- ENPP2 p.Ala603Glu Uncertain significance Single submitter
- ENPP2 p.Ala825Thr Uncertain significance Single submitter
- ENPP2 p.Arg163Cys Uncertain significance Single submitter
- ENPP2 p.Arg350Trp Uncertain significance Single submitter
- ENPP2 p.Arg450His Uncertain significance Single submitter
- ENPP2 p.Arg607Trp Uncertain significance Single submitter
- ENPP2 p.Arg654Gln Uncertain significance Single submitter
- ENPP2 p.Arg658His Uncertain significance Single submitter
- ENPP2 p.Arg799Gln Uncertain significance Single submitter
- ENPP2 p.Arg828Cys Uncertain significance Single submitter
- ENPP2 p.Arg828His Uncertain significance Single submitter
- ENPP2 p.Arg828Leu Uncertain significance Single submitter
- ENPP2 p.Asn482Lys Uncertain significance Single submitter
- ENPP2 p.Asp404Glu Uncertain significance Single submitter
- ENPP2 p.Asp418Glu Uncertain significance Single submitter
- ENPP2 p.Asp742Ala Uncertain significance Single submitter
- ENPP2 p.Asp751Asn Uncertain significance Single submitter
- ENPP2 p.Gln258Arg Uncertain significance Single submitter
- ENPP2 p.Gln419Arg Uncertain significance Single submitter
- ENPP2 p.Glu122Gly Uncertain significance Single submitter
- ENPP2 p.Glu141Asp Uncertain significance Single submitter
- ENPP2 p.Glu331Val Uncertain significance Single submitter
- ENPP2 p.Glu812Lys Uncertain significance Single submitter
- ENPP2 p.Gly268Arg Uncertain significance Single submitter
- ENPP2 p.Ile168Val Uncertain significance Single submitter
- ENPP2 p.Ile289Met Uncertain significance Single submitter
- ENPP2 p.Ile332Thr Uncertain significance Single submitter
- ENPP2 p.Ile507Thr Uncertain significance Single submitter
- ENPP2 p.Phe28Leu Uncertain significance Single submitter
- ENPP2 p.Phe680Tyr Uncertain significance Single submitter
- ENPP2 p.Pro187Thr Uncertain significance Single submitter
- ENPP2 p.Pro323Leu Uncertain significance Single submitter
- ENPP2 p.Pro323Ser Uncertain significance Single submitter
- ENPP2 p.Ser142Leu Uncertain significance Single submitter
- ENPP2 p.Ser232Leu Uncertain significance Single submitter
- ENPP2 p.Ser770Gly Uncertain significance Single submitter
- ENPP2 p.Thr241Pro Uncertain significance Single submitter
- ENPP2 p.Thr273Ile Uncertain significance Single submitter
- ENPP2 p.Thr366Ile Uncertain significance Single submitter
- ENPP2 p.Thr378Ile Uncertain significance Single submitter
- ENPP2 p.Thr413Arg Uncertain significance Single submitter
- ENPP2 p.Thr413Met Uncertain significance Single submitter
- ENPP2 p.Tyr234His Uncertain significance Single submitter
- ENPP2 p.Tyr403Ser Uncertain significance Single submitter
- ENPP2 p.Tyr741Cys Uncertain significance Single submitter
- ENPP2 p.Val185Asp Uncertain significance Single submitter
All ENPP2 variants
Benign 5
- c.973-2122T>C Multiple submitters
- c.973-2129G>A Multiple submitters
- c.2264+7G>A Single submitter
- c.480-4T>G Single submitter
- p.Asn577Ser Single submitter
Benign/Likely benign 1
- p.Arg844Cys Multiple submitters ⚠
Likely benign 4
- p.Asn353= Single submitter
- p.Asn552Ser Single submitter
- p.Asp647Glu Single submitter
- p.Gly388= Single submitter
Uncertain significance 122
- p.Arg799Trp Multiple submitters ⚠
- c.1781-1341A>C Single submitter
- c.973-1995C>A Single submitter
- c.973-1998C>T Single submitter
- c.973-2023G>C Single submitter
- c.973-2026T>G Single submitter
- c.973-2049A>G Single submitter
- c.973-2061G>A Single submitter
- c.973-2090T>C Single submitter
- p.Ala117Asp Single submitter ⚠
- p.Ala155Val Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Ala176Glu Single submitter ⚠
- p.Ala240Ser Single submitter ⚠
- p.Ala271Thr Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala522Val Single submitter ⚠
- p.Ala603Glu Single submitter ⚠
- p.Ala825Thr Single submitter ⚠
- p.Arg163Cys Single submitter ⚠
- p.Arg350Gln Single submitter ⚠
- p.Arg350Trp Single submitter ⚠
- p.Arg392Ser Single submitter ⚠
- p.Arg450His Single submitter ⚠
- p.Arg536Leu Single submitter ⚠
- p.Arg550Lys Single submitter ⚠
- p.Arg585Gln Single submitter ⚠
- p.Arg585Trp Single submitter ⚠
- p.Arg607Trp Single submitter ⚠
- p.Arg62Ser Single submitter ⚠
- p.Arg654Gln Single submitter ⚠
- p.Arg658His Single submitter ⚠
- p.Arg75Cys Single submitter ⚠
- p.Arg799Gln Single submitter ⚠
- p.Arg828Cys Single submitter ⚠
- p.Arg828His Single submitter ⚠
- p.Arg828Leu Single submitter ⚠
- p.Arg99Cys Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Asn251Thr Single submitter ⚠
- p.Asn482Lys Single submitter ⚠
- p.Asn532His Single submitter ⚠
- p.Asn552Thr Single submitter ⚠
- p.Asn78Ser Single submitter ⚠
- p.Asp404Glu Single submitter ⚠
- p.Asp418Glu Single submitter ⚠
- p.Asp73Asn Single submitter ⚠
- p.Asp73Gly Single submitter ⚠
- p.Asp742Ala Single submitter ⚠
- p.Asp751Asn Single submitter ⚠
- p.Cys108Tyr Single submitter ⚠
- p.Gln258Arg Single submitter ⚠
- p.Gln419Arg Single submitter ⚠
- p.Glu122Gly Single submitter ⚠
- p.Glu141Asp Single submitter ⚠
- p.Glu141Lys Single submitter ⚠
- p.Glu331Val Single submitter ⚠
- p.Glu546Gln Single submitter ⚠
- p.Glu593Lys Single submitter ⚠
- p.Glu812Lys Single submitter ⚠
- p.Glu862Lys Single submitter ⚠
- p.Gly268Arg Single submitter ⚠
- p.Gly27Arg Single submitter ⚠
- p.Gly322Val Single submitter ⚠
- p.Gly38Arg Single submitter ⚠
- p.His119Asp Single submitter ⚠
- p.His143Gln Single submitter ⚠
- p.His252Tyr Single submitter ⚠
- p.His428Tyr Single submitter ⚠
- p.His533Tyr Single submitter ⚠
- p.His747Arg Single submitter ⚠
- p.Ile168Val Single submitter ⚠
- p.Ile289Met Single submitter ⚠
- p.Ile332Thr Single submitter ⚠
- p.Ile409Met Single submitter ⚠
- p.Ile507Thr Single submitter ⚠
- p.Ile771Val Single submitter ⚠
- p.Leu516Phe Single submitter ⚠
- p.Leu66Phe Single submitter ⚠
- p.Lys153Arg Single submitter ⚠
- p.Lys180Arg Single submitter ⚠
- p.Lys853Glu Single submitter ⚠
- p.Met179Val Single submitter ⚠
- p.Met325Thr Single submitter ⚠
- p.Met628Val Single submitter ⚠
- p.Phe28Leu Single submitter ⚠
- p.Phe663Val Single submitter ⚠
- p.Phe680Tyr Single submitter ⚠
- p.Phe794Ser Single submitter ⚠
- p.Pro187Thr Single submitter ⚠
- p.Pro212Ser Single submitter ⚠
- p.Pro323Leu Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro423Ala Single submitter ⚠
- p.Pro43Leu Single submitter ⚠
- p.Pro551Ala Single submitter ⚠
- p.Pro690Ser Single submitter ⚠
- p.Ser142Leu Single submitter ⚠
- p.Ser232Leu Single submitter ⚠
- p.Ser50Tyr Single submitter ⚠
- p.Ser637Phe Single submitter ⚠
- p.Ser6Ala Single submitter ⚠
- p.Ser770Gly Single submitter ⚠
- p.Ser792Tyr Single submitter ⚠
- p.Ser85Thr Single submitter ⚠
- p.Thr241Pro Single submitter ⚠
- p.Thr273Ile Single submitter ⚠
- p.Thr366Ile Single submitter ⚠
- p.Thr378Ile Single submitter ⚠
- p.Thr413Arg Single submitter ⚠
- p.Thr413Met Single submitter ⚠
- p.Thr45Lys Single submitter ⚠
- p.Thr543Ser Single submitter ⚠
- p.Thr616Ser Single submitter ⚠
- p.Thr97Lys Single submitter ⚠
- p.Tyr215His Single submitter ⚠
- p.Tyr234His Single submitter ⚠
- p.Tyr403Ser Single submitter ⚠
- p.Tyr741Cys Single submitter ⚠
- p.Val185Asp Single submitter ⚠
- p.Val653Ile Single submitter ⚠