NPFFR1 — 78 ClinVar variants
All ClinVar germline NPFFR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
3 Benign · 1 Benign/Likely benign · 5 Likely benign · 69 Uncertain significance
Full NPFFR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NPFFR1 p.Ala324Val Uncertain significance Single submitter
- NPFFR1 p.Ala342Thr Uncertain significance Single submitter
- NPFFR1 p.Ala393Ser Uncertain significance Single submitter
- NPFFR1 p.Ala43Thr Uncertain significance Single submitter
- NPFFR1 p.Arg156Gly Uncertain significance Single submitter
- NPFFR1 p.Arg238Ser Uncertain significance Single submitter
- NPFFR1 p.Arg260Pro Uncertain significance Single submitter
- NPFFR1 p.Arg351His Uncertain significance Single submitter
- NPFFR1 p.Arg363Pro Uncertain significance Single submitter
- NPFFR1 p.Arg371Leu Uncertain significance Single submitter
- NPFFR1 p.Arg72Gln Uncertain significance Single submitter
- NPFFR1 p.Asn29His Uncertain significance Single submitter
- NPFFR1 p.Asn84Lys Uncertain significance Single submitter
- NPFFR1 p.Asp103Tyr Uncertain significance Single submitter
- NPFFR1 p.Asp380Ala Uncertain significance Single submitter
- NPFFR1 p.Asp380Val Uncertain significance Single submitter
- NPFFR1 p.Gly124Asp Uncertain significance Single submitter
- NPFFR1 p.Gly252Glu Uncertain significance Single submitter
- NPFFR1 p.Gly252Val Uncertain significance Single submitter
- NPFFR1 p.Gly253Asp Uncertain significance Single submitter
- NPFFR1 p.Gly296Arg Uncertain significance Single submitter
- NPFFR1 p.Gly366Arg Uncertain significance Single submitter
- NPFFR1 p.Gly382Arg Uncertain significance Single submitter
- NPFFR1 p.Gly388Ser Uncertain significance Single submitter
- NPFFR1 p.Gly410Cys Uncertain significance Single submitter
- NPFFR1 p.Gly93Asp Uncertain significance Single submitter
- NPFFR1 p.Ile165Val Uncertain significance Single submitter
- NPFFR1 p.Ile47Thr Uncertain significance Single submitter
- NPFFR1 p.Leu121Val Uncertain significance Single submitter
- NPFFR1 p.Leu168Met Uncertain significance Single submitter
- NPFFR1 p.Leu399Phe Uncertain significance Single submitter
- NPFFR1 p.Leu63Gln Uncertain significance Single submitter
- NPFFR1 p.Leu69Pro Uncertain significance Single submitter
- NPFFR1 p.Lys152Gln Uncertain significance Single submitter
- NPFFR1 p.Lys357Met Uncertain significance Single submitter
- NPFFR1 p.Met173Val Uncertain significance Single submitter
- NPFFR1 p.Met45Thr Uncertain significance Single submitter
- NPFFR1 p.Met74Leu Uncertain significance Single submitter
- NPFFR1 p.Met74Val Uncertain significance Single submitter
- NPFFR1 p.Pro14Arg Uncertain significance Single submitter
- NPFFR1 p.Pro251Ala Uncertain significance Single submitter
- NPFFR1 p.Pro26Thr Uncertain significance Single submitter
- NPFFR1 p.Pro285Thr Uncertain significance Single submitter
- NPFFR1 p.Pro301Leu Uncertain significance Single submitter
- NPFFR1 p.Pro396Arg Uncertain significance Single submitter
- NPFFR1 p.Ser128Ala Uncertain significance Single submitter
- NPFFR1 p.Ser222Leu Uncertain significance Single submitter
- NPFFR1 p.Ser390Arg Uncertain significance Single submitter
- NPFFR1 p.Thr218Ile Uncertain significance Single submitter
- NPFFR1 p.Thr99Ile Uncertain significance Single submitter
- NPFFR1 p.Trp207Arg Uncertain significance Single submitter
- NPFFR1 p.Val139Met Uncertain significance Single submitter
- NPFFR1 p.Val182Ala Uncertain significance Single submitter
- NPFFR1 p.Val268Leu Uncertain significance Single submitter
- NPFFR1 p.Val406Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- NPFFR1 p.Ala51Glu Uncertain significance Single submitter
- NPFFR1 p.Arg337His Uncertain significance Single submitter
- NPFFR1 p.Arg72Trp Uncertain significance Single submitter
- NPFFR1 p.Asp192Glu Uncertain significance Single submitter
- NPFFR1 p.Ile224Ser Uncertain significance Single submitter
- NPFFR1 p.Lys70Asn Uncertain significance Single submitter
- NPFFR1 p.Pro228Ser Uncertain significance Single submitter
- NPFFR1 p.Thr218Pro Uncertain significance Single submitter
-
NPFFR1 p.Ile53Thr
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All NPFFR1 variants
Benign 3
- p.Ala193Ser Multiple submitters
- p.Leu272= Multiple submitters
- p.Ser119= Single submitter
Benign/Likely benign 1
- p.Arg196Leu Multiple submitters
Likely benign 5
- p.Leu243= Multiple submitters
- p.Ala51Val Single submitter
- p.Arg377Gln Single submitter
- p.Thr218Ala Single submitter
- p.Ile53Thr No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
Uncertain significance 69
- p.Ala324Val Single submitter ⚠
- p.Ala342Thr Single submitter ⚠
- p.Ala393Ser Single submitter ⚠
- p.Ala43Thr Single submitter ⚠
- p.Ala43Val Single submitter
- p.Ala51Glu Single submitter ⚠
- p.Arg156Gly Single submitter ⚠
- p.Arg238Ser Single submitter ⚠
- p.Arg260Pro Single submitter ⚠
- p.Arg337His Single submitter ⚠
- p.Arg351His Single submitter ⚠
- p.Arg363Pro Single submitter ⚠
- p.Arg371Leu Single submitter ⚠
- p.Arg72Gln Single submitter ⚠
- p.Arg72Trp Single submitter ⚠
- p.Asn29His Single submitter ⚠
- p.Asn335His Single submitter
- p.Asn84Lys Single submitter ⚠
- p.Asp103Tyr Single submitter ⚠
- p.Asp192Glu Single submitter ⚠
- p.Asp380Ala Single submitter ⚠
- p.Asp380Val Single submitter ⚠
- p.Gly124Asp Single submitter ⚠
- p.Gly252Glu Single submitter ⚠
- p.Gly252Val Single submitter ⚠
- p.Gly253Asp Single submitter ⚠
- p.Gly296Arg Single submitter ⚠
- p.Gly366Arg Single submitter ⚠
- p.Gly382Arg Single submitter ⚠
- p.Gly388Ser Single submitter ⚠
- p.Gly410Cys Single submitter ⚠
- p.Gly93Asp Single submitter ⚠
- p.His38Tyr Single submitter
- p.Ile165Val Single submitter ⚠
- p.Ile224Ser Single submitter ⚠
- p.Ile47Thr Single submitter ⚠
- p.Leu121Val Single submitter ⚠
- p.Leu168Met Single submitter ⚠
- p.Leu399Phe Single submitter ⚠
- p.Leu63Gln Single submitter ⚠
- p.Leu69Pro Single submitter ⚠
- p.Lys152Gln Single submitter ⚠
- p.Lys357Met Single submitter ⚠
- p.Lys70Asn Single submitter ⚠
- p.Met173Val Single submitter ⚠
- p.Met45Thr Single submitter ⚠
- p.Met74Leu Single submitter ⚠
- p.Met74Val Single submitter ⚠
- p.Pro14Arg Single submitter ⚠
- p.Pro228Ser Single submitter ⚠
- p.Pro251Ala Single submitter ⚠
- p.Pro26Thr Single submitter ⚠
- p.Pro285Thr Single submitter ⚠
- p.Pro301Leu Single submitter ⚠
- p.Pro396Arg Single submitter ⚠
- p.Ser128Ala Single submitter ⚠
- p.Ser176Leu Single submitter
- p.Ser222Leu Single submitter ⚠
- p.Ser390Arg Single submitter ⚠
- p.Thr218Asn Single submitter
- p.Thr218Ile Single submitter ⚠
- p.Thr218Pro Single submitter ⚠
- p.Thr99Ile Single submitter ⚠
- p.Trp207Arg Single submitter ⚠
- p.Tyr35Ser Single submitter
- p.Val139Met Single submitter ⚠
- p.Val182Ala Single submitter ⚠
- p.Val268Leu Single submitter ⚠
- p.Val406Met Single submitter ⚠