ENPP5 — 64 ClinVar variants
All ClinVar germline ENPP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
4 Likely benign · 60 Uncertain significance
Full ENPP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENPP5 p.Ala402Ser Uncertain significance Single submitter
- ENPP5 p.Ala423Thr Uncertain significance Single submitter
- ENPP5 p.Asn310Lys Uncertain significance Single submitter
- ENPP5 p.Asn338Lys Uncertain significance Single submitter
- ENPP5 p.Gln254His Uncertain significance Single submitter
- ENPP5 p.Gln266Leu Uncertain significance Single submitter
- ENPP5 p.Glu159Gly Uncertain significance Single submitter
- ENPP5 p.Glu322Lys Uncertain significance Single submitter
- ENPP5 p.Gly198Glu Uncertain significance Single submitter
- ENPP5 p.Gly337Ser Uncertain significance Single submitter
- ENPP5 p.Gly340Ala Uncertain significance Single submitter
- ENPP5 p.Gly340Val Uncertain significance Single submitter
- ENPP5 p.Gly418Asp Uncertain significance Single submitter
- ENPP5 p.Gly89Arg Uncertain significance Single submitter
- ENPP5 p.His379Tyr Uncertain significance Single submitter
- ENPP5 p.Ile211Val Uncertain significance Single submitter
- ENPP5 p.Ile54Met Uncertain significance Single submitter
- ENPP5 p.Ile90Ser Uncertain significance Single submitter
- ENPP5 p.Lys29Arg Uncertain significance Single submitter
- ENPP5 p.Met204Ile Uncertain significance Single submitter
- ENPP5 p.Met386Val Uncertain significance Single submitter
- ENPP5 p.Phe352Tyr Uncertain significance Single submitter
- ENPP5 p.Phe434Val Uncertain significance Single submitter
- ENPP5 p.Thr19Ile Uncertain significance Single submitter
- ENPP5 p.Thr371Ile Uncertain significance Single submitter
- ENPP5 p.Trp173Cys Uncertain significance Single submitter
- ENPP5 p.Trp393Ser Uncertain significance Single submitter
- ENPP5 p.Tyr157Cys Uncertain significance Single submitter
- ENPP5 p.Val282Ile Uncertain significance Single submitter
- ENPP5 p.Val301Leu Uncertain significance Single submitter
- ENPP5 p.Val446Leu Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- ENPP5 p.Ala270Val Uncertain significance Single submitter
- ENPP5 p.Arg149Cys Likely benign Single submitter
- ENPP5 p.Asn232Thr Uncertain significance Single submitter
- ENPP5 p.Asn382Ser Uncertain significance Single submitter
- ENPP5 p.Asn66Asp Uncertain significance Single submitter
- ENPP5 p.Glu119Ala Uncertain significance Single submitter
- ENPP5 p.Gly216Val Uncertain significance Single submitter
- ENPP5 p.Ile11Met Uncertain significance Single submitter
- ENPP5 p.Ile264Thr Uncertain significance Single submitter
- ENPP5 p.Ile316Val Uncertain significance Single submitter
- ENPP5 p.Ile351Val Uncertain significance Single submitter
- ENPP5 p.Ile435Thr Uncertain significance Single submitter
- ENPP5 p.Ile452Phe Uncertain significance Single submitter
- ENPP5 p.Leu12Pro Uncertain significance Single submitter
- ENPP5 p.Leu15Pro Uncertain significance Single submitter
- ENPP5 p.Leu455Ser Uncertain significance Single submitter
- ENPP5 p.Lys45Ile Uncertain significance Single submitter
- ENPP5 p.Met95Val Uncertain significance Single submitter
- ENPP5 p.Pro190Ala Uncertain significance Single submitter
- ENPP5 p.Pro357Ser Uncertain significance Single submitter
- ENPP5 p.Ser134Cys Uncertain significance Single submitter
- ENPP5 p.Ser364Pro Uncertain significance Single submitter
- ENPP5 p.Thr121Lys Uncertain significance Single submitter
- ENPP5 p.Thr175Met Uncertain significance Single submitter
- ENPP5 p.Thr48Ala Uncertain significance Single submitter
- ENPP5 p.Thr48Met Uncertain significance Single submitter
- ENPP5 p.Tyr309Cys Uncertain significance Single submitter
- ENPP5 p.Val167Ile Uncertain significance Single submitter
- ENPP5 p.Val319Ala Uncertain significance Single submitter
- ENPP5 p.Val80Leu Uncertain significance Single submitter
All ENPP5 variants
Likely benign 4
- p.Ala344= Single submitter
- p.Arg149Cys Single submitter ⚠
- p.His467Gln Single submitter
- p.Leu231Val Single submitter
Uncertain significance 60
- p.Ala270Val Single submitter ⚠
- p.Ala402Ser Single submitter ⚠
- p.Ala423Thr Single submitter ⚠
- p.Asn232Thr Single submitter ⚠
- p.Asn310Lys Single submitter ⚠
- p.Asn338Lys Single submitter ⚠
- p.Asn382Ser Single submitter ⚠
- p.Asn66Asp Single submitter ⚠
- p.Gln254His Single submitter ⚠
- p.Gln266Leu Single submitter ⚠
- p.Glu119Ala Single submitter ⚠
- p.Glu159Gly Single submitter ⚠
- p.Glu322Lys Single submitter ⚠
- p.Gly198Glu Single submitter ⚠
- p.Gly216Val Single submitter ⚠
- p.Gly337Ser Single submitter ⚠
- p.Gly340Ala Single submitter ⚠
- p.Gly340Val Single submitter ⚠
- p.Gly418Asp Single submitter ⚠
- p.Gly89Arg Single submitter ⚠
- p.His379Tyr Single submitter ⚠
- p.Ile11Met Single submitter ⚠
- p.Ile211Val Single submitter ⚠
- p.Ile264Thr Single submitter ⚠
- p.Ile316Val Single submitter ⚠
- p.Ile351Val Single submitter ⚠
- p.Ile435Thr Single submitter ⚠
- p.Ile452Phe Single submitter ⚠
- p.Ile54Met Single submitter ⚠
- p.Ile90Ser Single submitter ⚠
- p.Leu12Pro Single submitter ⚠
- p.Leu15Pro Single submitter ⚠
- p.Leu455Ser Single submitter ⚠
- p.Lys29Arg Single submitter ⚠
- p.Lys45Ile Single submitter ⚠
- p.Met204Ile Single submitter ⚠
- p.Met386Val Single submitter ⚠
- p.Met95Val Single submitter ⚠
- p.Phe352Tyr Single submitter ⚠
- p.Phe434Val Single submitter ⚠
- p.Pro190Ala Single submitter ⚠
- p.Pro357Ser Single submitter ⚠
- p.Ser134Cys Single submitter ⚠
- p.Ser364Pro Single submitter ⚠
- p.Thr121Lys Single submitter ⚠
- p.Thr175Met Single submitter ⚠
- p.Thr19Ile Single submitter ⚠
- p.Thr371Ile Single submitter ⚠
- p.Thr48Ala Single submitter ⚠
- p.Thr48Met Single submitter ⚠
- p.Trp173Cys Single submitter ⚠
- p.Trp393Ser Single submitter ⚠
- p.Tyr157Cys Single submitter ⚠
- p.Tyr309Cys Single submitter ⚠
- p.Val167Ile Single submitter ⚠
- p.Val282Ile Single submitter ⚠
- p.Val301Leu Single submitter ⚠
- p.Val319Ala Single submitter ⚠
- p.Val446Leu Single submitter ⚠
- p.Val80Leu Single submitter ⚠