NFXL1 — 76 ClinVar variants
All ClinVar germline NFXL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
5 Benign · 2 Likely benign · 69 Uncertain significance
Full NFXL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NFXL1 p.Ala22Pro Uncertain significance Single submitter
- NFXL1 p.Ala22Thr Uncertain significance Single submitter
- NFXL1 p.Ala303Thr Uncertain significance Single submitter
- NFXL1 p.Ala329Ser Uncertain significance Single submitter
- NFXL1 p.Ala329Thr Uncertain significance Single submitter
- NFXL1 p.Ala58Val Uncertain significance Single submitter
- NFXL1 p.Ala67Thr Uncertain significance Single submitter
- NFXL1 p.Ala67Val Uncertain significance Single submitter
- NFXL1 p.Ala76Thr Uncertain significance Single submitter
- NFXL1 p.Ala77Val Uncertain significance Single submitter
- NFXL1 p.Ala97Val Uncertain significance Single submitter
- NFXL1 p.Arg140Cys Uncertain significance Single submitter
- NFXL1 p.Arg140His Uncertain significance Single submitter
- NFXL1 p.Arg337Gly Uncertain significance Single submitter
- NFXL1 p.Arg37Leu Uncertain significance Single submitter
- NFXL1 p.Arg499Gln Uncertain significance Single submitter
- NFXL1 p.Arg499Trp Uncertain significance Single submitter
- NFXL1 p.Arg832Gln Uncertain significance Single submitter
- NFXL1 p.Asn325Ser Uncertain significance Single submitter
- NFXL1 p.Asn93Asp Uncertain significance Single submitter
- NFXL1 p.Cys376Phe Uncertain significance Single submitter
- NFXL1 p.Gln134His Uncertain significance Single submitter
- NFXL1 p.Gln154Arg Uncertain significance Single submitter
- NFXL1 p.Gln309Arg Uncertain significance Single submitter
- NFXL1 p.Gln70Arg Uncertain significance Single submitter
- NFXL1 p.Gln73Pro Uncertain significance Single submitter
- NFXL1 p.Glu117Gln Uncertain significance Single submitter
- NFXL1 p.Glu227Ala Uncertain significance Single submitter
- NFXL1 p.Glu240Asp Uncertain significance Single submitter
- NFXL1 p.Glu377Lys Uncertain significance Single submitter
- NFXL1 p.Glu703Lys Uncertain significance Single submitter
- NFXL1 p.Gly40Glu Uncertain significance Single submitter
- NFXL1 p.Gly61Trp Uncertain significance Single submitter
- NFXL1 p.His267Tyr Uncertain significance Single submitter
- NFXL1 p.Ile162Val Uncertain significance Single submitter
- NFXL1 p.Ile182Val Uncertain significance Single submitter
- NFXL1 p.Ile735Leu Uncertain significance Single submitter
- NFXL1 p.Ile89Val Uncertain significance Single submitter
- NFXL1 p.Lys119Glu Uncertain significance Single submitter
- NFXL1 p.Lys813Gln Uncertain significance Single submitter
- NFXL1 p.Met185Ile Uncertain significance Single submitter
- NFXL1 p.Pro213Leu Uncertain significance Single submitter
- NFXL1 p.Pro326Leu Uncertain significance Single submitter
- NFXL1 p.Pro336Leu Uncertain significance Single submitter
- NFXL1 p.Pro521Ser Uncertain significance Single submitter
- NFXL1 p.Ser106Thr Uncertain significance Single submitter
- NFXL1 p.Ser24Leu Uncertain significance Single submitter
- NFXL1 p.Ser252Ala Uncertain significance Single submitter
- NFXL1 p.Ser69Cys Uncertain significance Single submitter
- NFXL1 p.Thr133Ala Uncertain significance Single submitter
- NFXL1 p.Thr288Ser Uncertain significance Single submitter
- NFXL1 p.Thr907Asn Uncertain significance Single submitter
- NFXL1 p.Trp306Arg Uncertain significance Single submitter
- NFXL1 p.Trp5Gly Uncertain significance Single submitter
- NFXL1 p.Val149Ile Uncertain significance Single submitter
- NFXL1 p.Val199Ile Uncertain significance Single submitter
- NFXL1 p.Val42Glu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- NFXL1 p.Arg259Gly Uncertain significance Single submitter
- NFXL1 p.Arg259His Uncertain significance Single submitter
- NFXL1 p.Arg299His Uncertain significance Single submitter
- NFXL1 p.Arg709Gln Uncertain significance Single submitter
- NFXL1 p.Asp241Val Uncertain significance Single submitter
- NFXL1 p.Gly372Asp Uncertain significance Single submitter
- NFXL1 p.Ile89Asn Uncertain significance Single submitter
- NFXL1 p.Lys342Asn Uncertain significance Single submitter
- NFXL1 p.Phe221Leu Uncertain significance Single submitter
- NFXL1 p.Pro296Arg Uncertain significance Single submitter
All NFXL1 variants
Benign 5
- c.2080-3C>G No assertion criteria NFXL1-related disorder
- p.Asn150Lys No assertion criteria NFXL1-related disorder
- p.Asp194= No assertion criteria NFXL1-related disorder
- p.Lys292= No assertion criteria NFXL1-related disorder
- p.Pro246Leu No assertion criteria NFXL1-related disorder
Likely benign 2
- p.Cys212Tyr Single submitter
- p.Arg31= No assertion criteria NFXL1-related disorder
Uncertain significance 69
- p.Ala22Pro Single submitter ⚠
- p.Ala22Thr Single submitter ⚠
- p.Ala303Thr Single submitter ⚠
- p.Ala329Ser Single submitter ⚠
- p.Ala329Thr Single submitter ⚠
- p.Ala58Val Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Ala67Val Single submitter ⚠
- p.Ala76Thr Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg140Cys Single submitter ⚠
- p.Arg140His Single submitter ⚠
- p.Arg259Gly Single submitter ⚠
- p.Arg259His Single submitter ⚠
- p.Arg299His Single submitter ⚠
- p.Arg337Gly Single submitter ⚠
- p.Arg37Leu Single submitter ⚠
- p.Arg499Gln Single submitter ⚠
- p.Arg499Trp Single submitter ⚠
- p.Arg709Gln Single submitter ⚠
- p.Arg832Gln Single submitter ⚠
- p.Asn325Ser Single submitter ⚠
- p.Asn93Asp Single submitter ⚠
- p.Asp241Val Single submitter ⚠
- p.Cys376Phe Single submitter ⚠
- p.Gln134His Single submitter ⚠
- p.Gln154Arg Single submitter ⚠
- p.Gln309Arg Single submitter ⚠
- p.Gln70Arg Single submitter ⚠
- p.Gln73Pro Single submitter ⚠
- p.Glu117Gln Single submitter ⚠
- p.Glu227Ala Single submitter ⚠
- p.Glu240Asp Single submitter ⚠
- p.Glu377Lys Single submitter ⚠
- p.Glu703Lys Single submitter ⚠
- p.Gly372Asp Single submitter ⚠
- p.Gly40Glu Single submitter ⚠
- p.Gly61Trp Single submitter ⚠
- p.His267Tyr Single submitter ⚠
- p.Ile162Val Single submitter ⚠
- p.Ile182Val Single submitter ⚠
- p.Ile735Leu Single submitter ⚠
- p.Ile89Asn Single submitter ⚠
- p.Ile89Val Single submitter ⚠
- p.Lys119Glu Single submitter ⚠
- p.Lys342Asn Single submitter ⚠
- p.Lys813Gln Single submitter ⚠
- p.Met185Ile Single submitter ⚠
- p.Phe153Cys Single submitter
- p.Phe221Leu Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro296Arg Single submitter ⚠
- p.Pro326Leu Single submitter ⚠
- p.Pro336Leu Single submitter ⚠
- p.Pro521Ser Single submitter ⚠
- p.Ser106Thr Single submitter ⚠
- p.Ser24Leu Single submitter ⚠
- p.Ser252Ala Single submitter ⚠
- p.Ser69Cys Single submitter ⚠
- p.Thr133Ala Single submitter ⚠
- p.Thr288Ser Single submitter ⚠
- p.Thr907Asn Single submitter ⚠
- p.Trp306Arg Single submitter ⚠
- p.Trp5Gly Single submitter ⚠
- p.Val149Ile Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val285Gly Single submitter
- p.Val42Glu Single submitter ⚠