NPFFR2 — 57 ClinVar variants
All ClinVar germline NPFFR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
1 Conflicting · 3 Benign · 4 Likely benign · 49 Uncertain significance
Full NPFFR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NPFFR2 c.-110A>C Uncertain significance Single submitter
- NPFFR2 c.-77A>T Uncertain significance Single submitter
- NPFFR2 p.Ala109Thr Uncertain significance Single submitter
- NPFFR2 p.Ala160Gly Uncertain significance Single submitter
- NPFFR2 p.Ala300Thr Uncertain significance Single submitter
- NPFFR2 p.Ala367Val Uncertain significance Single submitter
- NPFFR2 p.Arg72Lys Uncertain significance Single submitter
- NPFFR2 p.Arg72Trp Uncertain significance Single submitter
- NPFFR2 p.Asn20Ser Uncertain significance Single submitter
- NPFFR2 p.Asn305Asp Uncertain significance Single submitter
- NPFFR2 p.Asn36Lys Uncertain significance Single submitter
- NPFFR2 p.Asp301Gly Uncertain significance Single submitter
- NPFFR2 p.Cys118Arg Uncertain significance Single submitter
- NPFFR2 p.Cys146Arg Uncertain significance Single submitter
- NPFFR2 p.Cys98Phe Uncertain significance Single submitter
- NPFFR2 p.Gln261Leu Uncertain significance Single submitter
- NPFFR2 p.Glu413Ala Uncertain significance Single submitter
- NPFFR2 p.Gly324Ser Uncertain significance Single submitter
- NPFFR2 p.Gly62Arg Uncertain significance Single submitter
- NPFFR2 p.His263Tyr Uncertain significance Single submitter
- NPFFR2 p.Ile310Phe Uncertain significance Single submitter
- NPFFR2 p.Ile373Val Uncertain significance Single submitter
- NPFFR2 p.Ile89Lys Uncertain significance Single submitter
- NPFFR2 p.Leu123Phe Uncertain significance Single submitter
- NPFFR2 p.Leu307Arg Uncertain significance Single submitter
- NPFFR2 p.Leu93Val Uncertain significance Single submitter
- NPFFR2 p.Lys269Arg Uncertain significance Single submitter
- NPFFR2 p.Met181Leu Uncertain significance Single submitter
- NPFFR2 p.Met1Val Uncertain significance Single submitter
- NPFFR2 p.Met238Thr Uncertain significance Single submitter
- NPFFR2 p.Met60Val Uncertain significance Single submitter
- NPFFR2 p.Pro15Ser Uncertain significance Single submitter
- NPFFR2 p.Pro304Ala Uncertain significance Single submitter
- NPFFR2 p.Ser376Cys Uncertain significance Single submitter
- NPFFR2 p.Ser398Arg Uncertain significance Single submitter
- NPFFR2 p.Ser417Arg Uncertain significance Single submitter
- NPFFR2 p.Ser51Ala Uncertain significance Single submitter
- NPFFR2 p.Ser90Arg Uncertain significance Single submitter
- NPFFR2 p.Trp17Cys Uncertain significance Single submitter
- NPFFR2 p.Trp5Arg Uncertain significance Single submitter
- NPFFR2 p.Tyr149His Uncertain significance Single submitter
- NPFFR2 p.Tyr219Asn Uncertain significance Single submitter
- NPFFR2 p.Val141Ile Uncertain significance Single submitter
- NPFFR2 p.Val265Ala Uncertain significance Single submitter
- NPFFR2 p.Val66Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All NPFFR2 variants
Conflicting classifications of pathogenicity 1
- p.Ala130Thr Single submitter ⚠
Benign 3
- c.-202C>G Multiple submitters
- p.Val148Ala Multiple submitters
- p.Asn73Asp Single submitter
Likely benign 4
- p.Thr392Asn Single submitter
- p.Thr7Ile Single submitter
- p.Tyr395Cys Single submitter
- p.Val264Met Single submitter
Uncertain significance 49
- c.-110A>C Single submitter ⚠
- c.-77A>T Single submitter ⚠
- p.Ala109Thr Single submitter ⚠
- p.Ala160Gly Single submitter ⚠
- p.Ala300Thr Single submitter ⚠
- p.Ala367Val Single submitter ⚠
- p.Arg72Lys Single submitter ⚠
- p.Arg72Trp Single submitter ⚠
- p.Asn20Ser Single submitter ⚠
- p.Asn305Asp Single submitter ⚠
- p.Asn339Asp Single submitter ⚠
- p.Asn36Lys Single submitter ⚠
- p.Asp301Gly Single submitter ⚠
- p.Cys118Arg Single submitter ⚠
- p.Cys146Arg Single submitter ⚠
- p.Cys98Phe Single submitter ⚠
- p.Gln261Leu Single submitter ⚠
- p.Glu413Ala Single submitter ⚠
- p.Gly324Ser Single submitter ⚠
- p.Gly62Arg Single submitter ⚠
- p.His263Tyr Single submitter ⚠
- p.Ile310Phe Single submitter ⚠
- p.Ile373Val Single submitter ⚠
- p.Ile89Lys Single submitter ⚠
- p.Leu123Phe Single submitter ⚠
- p.Leu307Arg Single submitter ⚠
- p.Leu93Val Single submitter ⚠
- p.Lys154Asn Single submitter ⚠
- p.Lys269Arg Single submitter ⚠
- p.Met181Leu Single submitter ⚠
- p.Met1Val Single submitter ⚠
- p.Met238Thr Single submitter ⚠
- p.Met60Val Single submitter ⚠
- p.Phe48Leu Single submitter ⚠
- p.Pro15Ser Single submitter ⚠
- p.Pro304Ala Single submitter ⚠
- p.Ser376Cys Single submitter ⚠
- p.Ser398Arg Single submitter ⚠
- p.Ser417Arg Single submitter ⚠
- p.Ser51Ala Single submitter ⚠
- p.Ser90Arg Single submitter ⚠
- p.Trp17Cys Single submitter ⚠
- p.Trp5Arg Single submitter ⚠
- p.Tyr149His Single submitter ⚠
- p.Tyr219Asn Single submitter ⚠
- p.Val141Ile Single submitter ⚠
- p.Val184Gly Single submitter
- p.Val265Ala Single submitter ⚠
- p.Val66Ala Single submitter ⚠