NAPEPLD — 63 ClinVar variants
All ClinVar germline NAPEPLD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
1 Pathogenic · 2 Benign · 2 Likely benign · 58 Uncertain significance
Full NAPEPLD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NAPEPLD p.Ala123Val Uncertain significance Single submitter
- NAPEPLD p.Ala282Thr Uncertain significance Single submitter
- NAPEPLD p.Arg29Gln Uncertain significance Single submitter
- NAPEPLD p.Asn194Ser Uncertain significance Single submitter
- NAPEPLD p.Asn236Ser Uncertain significance Single submitter
- NAPEPLD p.Asn277Lys Uncertain significance Single submitter
- NAPEPLD p.Asn74Ser Uncertain significance Single submitter
- NAPEPLD p.Asp147Val Uncertain significance Single submitter
- NAPEPLD p.Asp390Asn Uncertain significance Single submitter
- NAPEPLD p.Cys255Phe Uncertain significance Single submitter
- NAPEPLD p.Gln15Arg Uncertain significance Single submitter
- NAPEPLD p.Glu122Asp Uncertain significance Single submitter
- NAPEPLD p.Glu138Asp Uncertain significance Single submitter
- NAPEPLD p.Glu206Lys Uncertain significance Single submitter
- NAPEPLD p.Glu373Gln Uncertain significance Single submitter
- NAPEPLD p.His132Arg Uncertain significance Single submitter
- NAPEPLD p.His331Gln Uncertain significance Single submitter
- NAPEPLD p.Leu370Phe Uncertain significance Single submitter
- NAPEPLD p.Lys296Glu Uncertain significance Single submitter
- NAPEPLD p.Met11Leu Uncertain significance Single submitter
- NAPEPLD p.Met139Thr Uncertain significance Single submitter
- NAPEPLD p.Phe281Leu Uncertain significance Single submitter
- NAPEPLD p.Phe281Ser Uncertain significance Single submitter
- NAPEPLD p.Pro115Ser Uncertain significance Single submitter
- NAPEPLD p.Pro148Leu Uncertain significance Single submitter
- NAPEPLD p.Pro169Leu Uncertain significance Single submitter
- NAPEPLD p.Pro313Leu Uncertain significance Single submitter
- NAPEPLD p.Ser269Arg Uncertain significance Single submitter
- NAPEPLD p.Ser27Leu Uncertain significance Single submitter
- NAPEPLD p.Ser339Phe Uncertain significance Single submitter
- NAPEPLD p.Ser95Thr Uncertain significance Single submitter
- NAPEPLD p.Tyr188Cys Uncertain significance Single submitter
- NAPEPLD p.Val247Ala Uncertain significance Single submitter
- NAPEPLD p.Val272Ile Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- NAPEPLD p.Arg166Cys Uncertain significance Single submitter
- NAPEPLD p.Arg202Gln Uncertain significance Single submitter
- NAPEPLD p.Arg314Ser Uncertain significance Single submitter
- NAPEPLD p.Cys222Tyr Uncertain significance Single submitter
- NAPEPLD p.Glu235Asp Uncertain significance Single submitter
- NAPEPLD p.Glu235Lys Uncertain significance Single submitter
- NAPEPLD p.Gly299Ala Uncertain significance Single submitter
- NAPEPLD p.Leu213Ser Uncertain significance Single submitter
- NAPEPLD p.Leu378Val Uncertain significance Single submitter
- NAPEPLD p.Met136Thr Uncertain significance Single submitter
- NAPEPLD p.Phe150Leu Uncertain significance Single submitter
- NAPEPLD p.Phe203Ile Uncertain significance Single submitter
- NAPEPLD p.Pro115Ala Uncertain significance Single submitter
- NAPEPLD p.Pro300Thr Uncertain significance Single submitter
- NAPEPLD p.Pro307Ser Uncertain significance Single submitter
- NAPEPLD p.Pro358Leu Uncertain significance Single submitter
- NAPEPLD p.Thr146Met Uncertain significance Single submitter
All NAPEPLD variants
Pathogenic 1
- p.Trp315Cys No assertion criteria hypercholesterolemia, familial, 1
Likely benign 2
- p.Ala372Thr Single submitter
- p.Gly32Arg Single submitter
Uncertain significance 58
- p.Ala123Val Single submitter ⚠
- p.Ala282Thr Single submitter ⚠
- p.Arg166Cys Single submitter ⚠
- p.Arg202Gln Single submitter ⚠
- p.Arg29Gln Single submitter ⚠
- p.Arg314Ser Single submitter ⚠
- p.Asn194Ser Single submitter ⚠
- p.Asn236Ser Single submitter ⚠
- p.Asn277Lys Single submitter ⚠
- p.Asn74Ser Single submitter ⚠
- p.Asp147Val Single submitter ⚠
- p.Asp390Asn Single submitter ⚠
- p.Cys222Tyr Single submitter ⚠
- p.Cys255Phe Single submitter ⚠
- p.Gln15Arg Single submitter ⚠
- p.Glu122Asp Single submitter ⚠
- p.Glu138Asp Single submitter ⚠
- p.Glu206Lys Single submitter ⚠
- p.Glu235Asp Single submitter ⚠
- p.Glu235Lys Single submitter ⚠
- p.Glu373Gln Single submitter ⚠
- p.Glu382Lys Single submitter
- p.Gly299Ala Single submitter ⚠
- p.His132Arg Single submitter ⚠
- p.His331Gln Single submitter ⚠
- p.Leu213Ser Single submitter ⚠
- p.Leu370Phe Single submitter ⚠
- p.Leu378Val Single submitter ⚠
- p.Lys296Glu Single submitter ⚠
- p.Met11Leu Single submitter ⚠
- p.Met136Thr Single submitter ⚠
- p.Met139Thr Single submitter ⚠
- p.Met219Val Single submitter
- p.Phe150Leu Single submitter ⚠
- p.Phe203Ile Single submitter ⚠
- p.Phe281Leu Single submitter ⚠
- p.Phe281Ser Single submitter ⚠
- p.Pro115Ala Single submitter ⚠
- p.Pro115Ser Single submitter ⚠
- p.Pro148Leu Single submitter ⚠
- p.Pro169Leu Single submitter ⚠
- p.Pro275Ser Single submitter
- p.Pro300Arg Single submitter
- p.Pro300Thr Single submitter ⚠
- p.Pro307Ser Single submitter ⚠
- p.Pro313Leu Single submitter ⚠
- p.Pro358Leu Single submitter ⚠
- p.Pro68Leu Single submitter
- p.Ser269Arg Single submitter ⚠
- p.Ser27Leu Single submitter ⚠
- p.Ser339Phe Single submitter ⚠
- p.Ser95Thr Single submitter ⚠
- p.Thr134Met Single submitter
- p.Thr146Met Single submitter ⚠
- p.Thr55Asn Single submitter
- p.Tyr188Cys Single submitter ⚠
- p.Val247Ala Single submitter ⚠
- p.Val272Ile Single submitter ⚠