NAMPT — 22 ClinVar variants
All ClinVar germline NAMPT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
4 Benign · 2 Likely benign · 16 Uncertain significance
Full NAMPT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 11
The independent predictors disagree with each other — read with care.
- NAMPT p.Asp235Tyr Uncertain significance Single submitter
- NAMPT p.Asp94Gly Uncertain significance Single submitter
- NAMPT p.Glu475Ala Uncertain significance Single submitter
- NAMPT p.Glu8Gln Uncertain significance Single submitter
- NAMPT p.Ile227Asn Uncertain significance Single submitter
- NAMPT p.Lys289Glu Uncertain significance Single submitter
- NAMPT p.Lys32Arg Uncertain significance Single submitter
- NAMPT p.Lys371Asn Uncertain significance Single submitter
- NAMPT p.Lys447Arg Uncertain significance Single submitter
- NAMPT p.Val441Leu Uncertain significance Single submitter
- NAMPT p.Val467Met Uncertain significance Single submitter
All NAMPT variants
Benign 4
- c.1366-8T>C Multiple submitters
- p.Pro333= Multiple submitters
- p.Asn67= Single submitter
- p.Val334= Single submitter
Likely benign 2
- p.Gln305Glu Single submitter
- p.Glu326Asp Single submitter
Uncertain significance 16
- p.Ala7Thr Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Asp235Tyr Single submitter ⚠
- p.Asp94Gly Single submitter ⚠
- p.Gln268Lys Single submitter ⚠
- p.Glu475Ala Single submitter ⚠
- p.Glu8Gln Single submitter ⚠
- p.Ile125Thr Single submitter ⚠
- p.Ile227Asn Single submitter ⚠
- p.Lys289Glu Single submitter ⚠
- p.Lys32Arg Single submitter ⚠
- p.Lys371Asn Single submitter ⚠
- p.Lys447Arg Single submitter ⚠
- p.Pro236Arg Single submitter ⚠
- p.Val441Leu Single submitter ⚠
- p.Val467Met Single submitter ⚠