ENPP3 — 116 ClinVar variants
All ClinVar germline ENPP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →
2 Benign · 7 Likely benign · 107 Uncertain significance
Full ENPP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 108
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 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENPP3 p.Ala248Asp Uncertain significance Single submitter
- ENPP3 p.Ala371Val Uncertain significance Single submitter
- ENPP3 p.Ala451Asp Uncertain significance Single submitter
- ENPP3 p.Ala602Glu Uncertain significance Single submitter
- ENPP3 p.Ala761Val Uncertain significance Single submitter
- ENPP3 p.Arg392Lys Uncertain significance Single submitter
- ENPP3 p.Arg405Cys Uncertain significance Single submitter
- ENPP3 p.Arg670Ser Uncertain significance Single submitter
- ENPP3 p.Arg700Lys Uncertain significance Single submitter
- ENPP3 p.Arg838Gly Uncertain significance Single submitter
- ENPP3 p.Arg838Trp Uncertain significance Single submitter
- ENPP3 p.Arg94Gly Uncertain significance Single submitter
- ENPP3 p.Asn234Lys Uncertain significance Single submitter
- ENPP3 p.Asn487Ile Uncertain significance Single submitter
- ENPP3 p.Asn540Ile Uncertain significance Single submitter
- ENPP3 p.Asp230Asn Uncertain significance Single submitter
- ENPP3 p.Asp760His Uncertain significance Single submitter
- ENPP3 p.Cys103Arg Uncertain significance Single submitter
- ENPP3 p.Cys115Arg Uncertain significance Single submitter
- ENPP3 p.Cys664Tyr Uncertain significance Single submitter
- ENPP3 p.Gly168Glu Uncertain significance Single submitter
- ENPP3 p.Gly481Asp Uncertain significance Single submitter
- ENPP3 p.His221Arg Uncertain significance Single submitter
- ENPP3 p.His347Gln Uncertain significance Single submitter
- ENPP3 p.His835Tyr Uncertain significance Single submitter
- ENPP3 p.Ile688Val Uncertain significance Single submitter
- ENPP3 p.Ile765Val Uncertain significance Single submitter
- ENPP3 p.Ile875Phe Uncertain significance Single submitter
- ENPP3 p.Leu187Pro Uncertain significance Single submitter
- ENPP3 p.Leu342Ser Uncertain significance Single submitter
- ENPP3 p.Leu542Phe Uncertain significance Single submitter
- ENPP3 p.Lys458Thr Uncertain significance Single submitter
- ENPP3 p.Lys57Arg Uncertain significance Single submitter
- ENPP3 p.Lys854Glu Uncertain significance Single submitter
- ENPP3 p.Met181Lys Uncertain significance Single submitter
- ENPP3 p.Met200Ile Uncertain significance Single submitter
- ENPP3 p.Met353Arg Uncertain significance Single submitter
- ENPP3 p.Met353Thr Uncertain significance Single submitter
- ENPP3 p.Met35Thr Uncertain significance Single submitter
- ENPP3 p.Met375Thr Uncertain significance Single submitter
- ENPP3 p.Pro12Arg Uncertain significance Single submitter
- ENPP3 p.Pro294Thr Uncertain significance Single submitter
- ENPP3 p.Pro404Ser Uncertain significance Single submitter
- ENPP3 p.Pro432Ser Uncertain significance Single submitter
- ENPP3 p.Pro442Leu Uncertain significance Single submitter
- ENPP3 p.Pro546Ser Uncertain significance Single submitter
- ENPP3 p.Pro649Ala Uncertain significance Single submitter
- ENPP3 p.Pro659Ser Uncertain significance Single submitter
- ENPP3 p.Pro775Ala Uncertain significance Single submitter
- ENPP3 p.Pro794Leu Uncertain significance Single submitter
- ENPP3 p.Pro869Thr Uncertain significance Single submitter
- ENPP3 p.Ser62Leu Uncertain significance Single submitter
- ENPP3 p.Ser655Leu Uncertain significance Single submitter
- ENPP3 p.Ser712Arg Uncertain significance Single submitter
- ENPP3 p.Thr146Ser Uncertain significance Single submitter
- ENPP3 p.Thr211Asn Uncertain significance Single submitter
- ENPP3 p.Thr476Arg Uncertain significance Single submitter
- ENPP3 p.Thr476Lys Uncertain significance Single submitter
- ENPP3 p.Thr603Ala Uncertain significance Single submitter
- ENPP3 p.Val454Ile Uncertain significance Single submitter
- ENPP3 p.Val620Leu Uncertain significance Single submitter
- ENPP3 p.Val815Met Uncertain significance Single submitter
Predictors split 46
The independent predictors disagree with each other — read with care.
- ENPP3 p.Ala330Pro Uncertain significance Single submitter
- ENPP3 p.Arg405His Uncertain significance Single submitter
- ENPP3 p.Arg407Gln Uncertain significance Single submitter
- ENPP3 p.Arg526Cys Uncertain significance Single submitter
- ENPP3 p.Arg666Trp Uncertain significance Single submitter
- ENPP3 p.Arg840His Uncertain significance Single submitter
- ENPP3 p.Asn279Ser Uncertain significance Single submitter
- ENPP3 p.Asn426Ile Uncertain significance Single submitter
- ENPP3 p.Asn607Ser Uncertain significance Single submitter
- ENPP3 p.Asp157Val Uncertain significance Single submitter
- ENPP3 p.Asp443Gly Uncertain significance Single submitter
- ENPP3 p.Asp72Asn Uncertain significance Single submitter
- ENPP3 p.Glu154Lys Uncertain significance Single submitter
- ENPP3 p.Glu400Lys Uncertain significance Single submitter
- ENPP3 p.Glu422Gly Uncertain significance Single submitter
- ENPP3 p.Gly280Cys Uncertain significance Single submitter
- ENPP3 p.Gly691Ser Uncertain significance Single submitter
- ENPP3 p.His221Asn Uncertain significance Single submitter
- ENPP3 p.His768Gln Uncertain significance Single submitter
- ENPP3 p.Ile184Val Uncertain significance Single submitter
- ENPP3 p.Ile212Val Uncertain significance Single submitter
- ENPP3 p.Ile23Val Uncertain significance Single submitter
- ENPP3 p.Ile26Ser Uncertain significance Single submitter
- ENPP3 p.Ile456Thr Uncertain significance Single submitter
- ENPP3 p.Leu158Pro Uncertain significance Single submitter
- ENPP3 p.Lys195Glu Uncertain significance Single submitter
- ENPP3 p.Lys47Ile Uncertain significance Single submitter
- ENPP3 p.Lys790Asn Uncertain significance Single submitter
- ENPP3 p.Met287Val Uncertain significance Single submitter
- ENPP3 p.Met717Thr Uncertain significance Single submitter
- ENPP3 p.Met717Val Uncertain significance Single submitter
- ENPP3 p.Pro218Leu Uncertain significance Single submitter
- ENPP3 p.Pro254Ala Uncertain significance Single submitter
- ENPP3 p.Pro294Gln Uncertain significance Single submitter
- ENPP3 p.Pro402Leu Uncertain significance Single submitter
- ENPP3 p.Ser420Pro Uncertain significance Single submitter
- ENPP3 p.Ser491Asn Uncertain significance Single submitter
- ENPP3 p.Ser560Phe Uncertain significance Single submitter
- ENPP3 p.Ser583Gly Benign Single submitter
- ENPP3 p.Thr301Ile Uncertain significance Single submitter
- ENPP3 p.Thr793Ala Uncertain significance Single submitter
- ENPP3 p.Thr866Ala Uncertain significance Single submitter
- ENPP3 p.Tyr261Cys Uncertain significance Single submitter
- ENPP3 p.Tyr317His Uncertain significance Single submitter
- ENPP3 p.Tyr755Cys Uncertain significance Single submitter
- ENPP3 p.Val345Ala Uncertain significance Single submitter
All ENPP3 variants
Benign 2
- p.Ser583Gly Single submitter ⚠
- p.Val620Met Single submitter
Likely benign 7
- c.762+4T>C Multiple submitters
- p.Ala837= Single submitter
- p.Arg337Gly Single submitter
- p.His251Gln Single submitter
- p.Met260Ile Single submitter
- p.Met642Leu Single submitter
- p.Thr9Met Single submitter
Uncertain significance 107
- p.Ala248Asp Single submitter ⚠
- p.Ala330Pro Single submitter ⚠
- p.Ala371Val Single submitter ⚠
- p.Ala451Asp Single submitter ⚠
- p.Ala602Glu Single submitter ⚠
- p.Ala761Val Single submitter ⚠
- p.Arg392Lys Single submitter ⚠
- p.Arg405Cys Single submitter ⚠
- p.Arg405His Single submitter ⚠
- p.Arg407Gln Single submitter ⚠
- p.Arg526Cys Single submitter ⚠
- p.Arg666Trp Single submitter ⚠
- p.Arg670Ser Single submitter ⚠
- p.Arg700Lys Single submitter ⚠
- p.Arg838Gly Single submitter ⚠
- p.Arg838Trp Single submitter ⚠
- p.Arg840His Single submitter ⚠
- p.Arg94Gly Single submitter ⚠
- p.Asn234Lys Single submitter ⚠
- p.Asn279Ser Single submitter ⚠
- p.Asn426Ile Single submitter ⚠
- p.Asn487Ile Single submitter ⚠
- p.Asn540Ile Single submitter ⚠
- p.Asn607Ser Single submitter ⚠
- p.Asp157Val Single submitter ⚠
- p.Asp230Asn Single submitter ⚠
- p.Asp443Gly Single submitter ⚠
- p.Asp72Asn Single submitter ⚠
- p.Asp760His Single submitter ⚠
- p.Cys103Arg Single submitter ⚠
- p.Cys115Arg Single submitter ⚠
- p.Cys664Tyr Single submitter ⚠
- p.Glu154Lys Single submitter ⚠
- p.Glu400Lys Single submitter ⚠
- p.Glu422Gly Single submitter ⚠
- p.Gly168Glu Single submitter ⚠
- p.Gly280Cys Single submitter ⚠
- p.Gly481Asp Single submitter ⚠
- p.Gly691Ser Single submitter ⚠
- p.His221Arg Single submitter ⚠
- p.His221Asn Single submitter ⚠
- p.His347Gln Single submitter ⚠
- p.His768Gln Single submitter ⚠
- p.His835Tyr Single submitter ⚠
- p.Ile184Val Single submitter ⚠
- p.Ile212Val Single submitter ⚠
- p.Ile23Val Single submitter ⚠
- p.Ile26Ser Single submitter ⚠
- p.Ile456Thr Single submitter ⚠
- p.Ile688Val Single submitter ⚠
- p.Ile765Val Single submitter ⚠
- p.Ile875Phe Single submitter ⚠
- p.Leu158Pro Single submitter ⚠
- p.Leu187Pro Single submitter ⚠
- p.Leu342Ser Single submitter ⚠
- p.Leu542Phe Single submitter ⚠
- p.Lys195Glu Single submitter ⚠
- p.Lys458Thr Single submitter ⚠
- p.Lys47Ile Single submitter ⚠
- p.Lys57Arg Single submitter ⚠
- p.Lys790Asn Single submitter ⚠
- p.Lys854Glu Single submitter ⚠
- p.Met181Lys Single submitter ⚠
- p.Met200Ile Single submitter ⚠
- p.Met287Val Single submitter ⚠
- p.Met353Arg Single submitter ⚠
- p.Met353Thr Single submitter ⚠
- p.Met35Thr Single submitter ⚠
- p.Met375Thr Single submitter ⚠
- p.Met717Thr Single submitter ⚠
- p.Met717Val Single submitter ⚠
- p.Pro12Arg Single submitter ⚠
- p.Pro218Leu Single submitter ⚠
- p.Pro254Ala Single submitter ⚠
- p.Pro294Gln Single submitter ⚠
- p.Pro294Thr Single submitter ⚠
- p.Pro402Leu Single submitter ⚠
- p.Pro404Ser Single submitter ⚠
- p.Pro432Ser Single submitter ⚠
- p.Pro442Leu Single submitter ⚠
- p.Pro546Ser Single submitter ⚠
- p.Pro649Ala Single submitter ⚠
- p.Pro659Ser Single submitter ⚠
- p.Pro775Ala Single submitter ⚠
- p.Pro794Leu Single submitter ⚠
- p.Pro869Thr Single submitter ⚠
- p.Ser420Pro Single submitter ⚠
- p.Ser491Asn Single submitter ⚠
- p.Ser560Phe Single submitter ⚠
- p.Ser62Leu Single submitter ⚠
- p.Ser655Leu Single submitter ⚠
- p.Ser712Arg Single submitter ⚠
- p.Thr146Ser Single submitter ⚠
- p.Thr211Asn Single submitter ⚠
- p.Thr301Ile Single submitter ⚠
- p.Thr476Arg Single submitter ⚠
- p.Thr476Lys Single submitter ⚠
- p.Thr603Ala Single submitter ⚠
- p.Thr793Ala Single submitter ⚠
- p.Thr866Ala Single submitter ⚠
- p.Tyr261Cys Single submitter ⚠
- p.Tyr317His Single submitter ⚠
- p.Tyr755Cys Single submitter ⚠
- p.Val345Ala Single submitter ⚠
- p.Val454Ile Single submitter ⚠
- p.Val620Leu Single submitter ⚠
- p.Val815Met Single submitter ⚠