ENPP6 — 82 ClinVar variants
All ClinVar germline ENPP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →
2 Benign · 1 Likely benign · 79 Uncertain significance
Full ENPP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 78
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 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENPP6 p.Ala212Thr Uncertain significance Single submitter
- ENPP6 p.Ala303Pro Uncertain significance Single submitter
- ENPP6 p.Ala380Pro Uncertain significance Single submitter
- ENPP6 p.Arg232His Uncertain significance Single submitter
- ENPP6 p.Arg24Gln Uncertain significance Single submitter
- ENPP6 p.Arg35Leu Uncertain significance Single submitter
- ENPP6 p.Arg364Gln Uncertain significance Single submitter
- ENPP6 p.Arg417Gly Uncertain significance Single submitter
- ENPP6 p.Arg56Lys Uncertain significance Single submitter
- ENPP6 p.Arg82Cys Uncertain significance Single submitter
- ENPP6 p.Asn159Asp Uncertain significance Single submitter
- ENPP6 p.Asn165Ser Uncertain significance Single submitter
- ENPP6 p.Asp110Asn Uncertain significance Single submitter
- ENPP6 p.Asp172Asn Uncertain significance Single submitter
- ENPP6 p.Asp183Glu Uncertain significance Single submitter
- ENPP6 p.Asp183His Uncertain significance Single submitter
- ENPP6 p.Asp245Glu Uncertain significance Single submitter
- ENPP6 p.Asp41Glu Uncertain significance Single submitter
- ENPP6 p.Asp41His Uncertain significance Single submitter
- ENPP6 p.Cys393Arg Uncertain significance Single submitter
- ENPP6 p.Gln230Lys Uncertain significance Single submitter
- ENPP6 p.Glu195Lys Uncertain significance Single submitter
- ENPP6 p.Glu300Gln Uncertain significance Single submitter
- ENPP6 p.Glu325Lys Uncertain significance Single submitter
- ENPP6 p.Gly200Arg Uncertain significance Single submitter
- ENPP6 p.Gly326Val Uncertain significance Single submitter
- ENPP6 p.Gly355Asp Uncertain significance Single submitter
- ENPP6 p.Gly57Glu Uncertain significance Single submitter
- ENPP6 p.His428Leu Uncertain significance Single submitter
- ENPP6 p.Ile39Leu Uncertain significance Single submitter
- ENPP6 p.Ile53Val Uncertain significance Single submitter
- ENPP6 p.Leu78Gln Uncertain significance Single submitter
- ENPP6 p.Lys133Arg Uncertain significance Single submitter
- ENPP6 p.Lys222Asn Uncertain significance Single submitter
- ENPP6 p.Lys289Arg Uncertain significance Single submitter
- ENPP6 p.Lys312Arg Uncertain significance Single submitter
- ENPP6 p.Lys375Arg Uncertain significance Single submitter
- ENPP6 p.Met249Ile Uncertain significance Single submitter
- ENPP6 p.Pro151His Uncertain significance Single submitter
- ENPP6 p.Pro400Leu Uncertain significance Single submitter
- ENPP6 p.Ser111Arg Uncertain significance Single submitter
- ENPP6 p.Ser239Leu Uncertain significance Single submitter
- ENPP6 p.Ser342Asn Uncertain significance Single submitter
- ENPP6 p.Ser71Leu Uncertain significance Single submitter
- ENPP6 p.Thr77Asn Uncertain significance Single submitter
- ENPP6 p.Tyr389Cys Uncertain significance Single submitter
- ENPP6 p.Tyr93His Uncertain significance Single submitter
- ENPP6 p.Val107Ala Uncertain significance Single submitter
- ENPP6 p.Val125Asp Uncertain significance Single submitter
- ENPP6 p.Val170Ile Uncertain significance Single submitter
- ENPP6 p.Val194Met Uncertain significance Single submitter
- ENPP6 p.Val388Ile Uncertain significance Single submitter
- ENPP6 p.Val410Glu Uncertain significance Single submitter
- ENPP6 p.Val60Gly Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- ENPP6 p.Ala20Asp Uncertain significance Single submitter
- ENPP6 p.Ala20Thr Uncertain significance Single submitter
- ENPP6 p.Ala369Gly Uncertain significance Single submitter
- ENPP6 p.Arg181Pro Uncertain significance Single submitter
- ENPP6 p.Arg181Trp Uncertain significance Single submitter
- ENPP6 p.Arg191His Uncertain significance Single submitter
- ENPP6 p.Arg227Trp Uncertain significance Single submitter
- ENPP6 p.Arg232Cys Uncertain significance Single submitter
- ENPP6 p.Arg270Cys Uncertain significance Single submitter
- ENPP6 p.Arg270His Uncertain significance Single submitter
- ENPP6 p.Arg417Cys Uncertain significance Single submitter
- ENPP6 p.Asn100Thr Uncertain significance Single submitter
- ENPP6 p.Asn390Ser Uncertain significance Single submitter
- ENPP6 p.Asp172Val Uncertain significance Single submitter
- ENPP6 p.Glu359Lys Uncertain significance Single submitter
- ENPP6 p.Gly15Asp Uncertain significance Single submitter
- ENPP6 p.Gly49Ala Uncertain significance Single submitter
- ENPP6 p.Lys133Gln Uncertain significance Single submitter
- ENPP6 p.Phe370Leu Uncertain significance Single submitter
- ENPP6 p.Pro280Ala Uncertain significance Single submitter
- ENPP6 p.Pro337Leu Uncertain significance Single submitter
- ENPP6 p.Thr215Ile Uncertain significance Single submitter
- ENPP6 p.Val322Ala Uncertain significance Single submitter
- ENPP6 p.Val386Ala Uncertain significance Single submitter
All ENPP6 variants
Benign 2
- p.Ser71= Multiple submitters
- c.421+9G>A Single submitter
Likely benign 1
- p.Gly106= Single submitter
Uncertain significance 79
- p.Ala20Asp Single submitter ⚠
- p.Ala20Thr Single submitter ⚠
- p.Ala212Thr Single submitter ⚠
- p.Ala303Pro Single submitter ⚠
- p.Ala369Gly Single submitter ⚠
- p.Ala380Pro Single submitter ⚠
- p.Arg181Pro Single submitter ⚠
- p.Arg181Trp Single submitter ⚠
- p.Arg191His Single submitter ⚠
- p.Arg227Trp Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Arg232His Single submitter ⚠
- p.Arg24Gln Single submitter ⚠
- p.Arg270Cys Single submitter ⚠
- p.Arg270His Single submitter ⚠
- p.Arg35Leu Single submitter ⚠
- p.Arg364Gln Single submitter ⚠
- p.Arg417Cys Single submitter ⚠
- p.Arg417Gly Single submitter ⚠
- p.Arg56Lys Single submitter ⚠
- p.Arg82Cys Single submitter ⚠
- p.Asn100Thr Single submitter ⚠
- p.Asn159Asp Single submitter ⚠
- p.Asn165Ser Single submitter ⚠
- p.Asn390Ser Single submitter ⚠
- p.Asp110Asn Single submitter ⚠
- p.Asp172Asn Single submitter ⚠
- p.Asp172Val Single submitter ⚠
- p.Asp183Glu Single submitter ⚠
- p.Asp183His Single submitter ⚠
- p.Asp245Glu Single submitter ⚠
- p.Asp41Glu Single submitter ⚠
- p.Asp41His Single submitter ⚠
- p.Cys393Arg Single submitter ⚠
- p.Gln230Lys Single submitter ⚠
- p.Glu195Lys Single submitter ⚠
- p.Glu300Gln Single submitter ⚠
- p.Glu325Lys Single submitter ⚠
- p.Glu359Lys Single submitter ⚠
- p.Gly15Asp Single submitter ⚠
- p.Gly200Arg Single submitter ⚠
- p.Gly326Val Single submitter ⚠
- p.Gly355Asp Single submitter ⚠
- p.Gly49Ala Single submitter ⚠
- p.Gly57Glu Single submitter ⚠
- p.His428Leu Single submitter ⚠
- p.Ile39Leu Single submitter ⚠
- p.Ile53Val Single submitter ⚠
- p.Leu78Gln Single submitter ⚠
- p.Lys133Arg Single submitter ⚠
- p.Lys133Gln Single submitter ⚠
- p.Lys222Asn Single submitter ⚠
- p.Lys289Arg Single submitter ⚠
- p.Lys312Arg Single submitter ⚠
- p.Lys375Arg Single submitter ⚠
- p.Met249Ile Single submitter ⚠
- p.Phe370Leu Single submitter ⚠
- p.Pro151His Single submitter ⚠
- p.Pro280Ala Single submitter ⚠
- p.Pro337Leu Single submitter ⚠
- p.Pro400Leu Single submitter ⚠
- p.Ser111Arg Single submitter ⚠
- p.Ser239Leu Single submitter ⚠
- p.Ser342Asn Single submitter ⚠
- p.Ser71Leu Single submitter ⚠
- p.Thr215Ile Single submitter ⚠
- p.Thr77Asn Single submitter ⚠
- p.Tyr389Cys Single submitter ⚠
- p.Tyr93His Single submitter ⚠
- p.Val107Ala Single submitter ⚠
- p.Val125Asp Single submitter ⚠
- p.Val170Ile Single submitter ⚠
- p.Val194Met Single submitter ⚠
- p.Val322Ala Single submitter ⚠
- p.Val386Ala Single submitter ⚠
- p.Val388Ile Single submitter ⚠
- p.Val410Glu Single submitter ⚠
- p.Val60Gly Single submitter ⚠
- p.Met296fs No assertion criteria autism