Sugi Variant

Sugi Variant/NFIX

NFIX — 513 ClinVar variants

All ClinVar germline NFIX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →

104 Pathogenic · 15 Pathogenic/Likely pathogenic · 59 Likely pathogenic · 12 Conflicting · 25 Benign · 10 Benign/Likely benign · 156 Likely benign · 132 Uncertain significance

Full NFIX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 108

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 9

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 74

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 24

The independent predictors disagree with each other — read with care.

All NFIX variants

Pathogenic 104

Pathogenic/Likely pathogenic 15

  • c.697+1G>A Multiple submitters Marshall-Smith syndrome
  • p.Arg115Gln Multiple submitters Marfanoid habitus and intellectual disability
  • p.Arg116Gln Multiple submitters Malan overgrowth syndrome
  • p.Arg38His Multiple submitters Malan overgrowth syndrome
  • p.Arg486fs Multiple submitters NFIX-related disorder
  • p.Asp109Tyr Multiple submitters Malan overgrowth syndrome
  • p.Gln213Ter Multiple submitters Marshall-Smith syndrome
  • p.Glu174Ter Multiple submitters
  • p.Glu52Ter Multiple submitters Inborn genetic diseases
  • p.Gly160fs Multiple submitters intellectual disability
  • p.Lys125Glu Multiple submitters Marshall-Smith syndrome
  • p.Lys46delinsAlaTer Multiple submitters Malan overgrowth syndrome
  • p.Met48Lys Multiple submitters Malan overgrowth syndrome
  • p.Ser106Phe Multiple submitters Malan overgrowth syndrome
  • p.Arg74fs Single submitter Marshall-Smith syndrome

Likely pathogenic 59

Conflicting classifications of pathogenicity 12

Benign 25

Benign/Likely benign 10

  • c.1078+20G>A Multiple submitters Marshall-Smith syndrome
  • c.28-891dup Multiple submitters Marshall-Smith syndrome
  • c.698-12C>T Multiple submitters Marshall-Smith syndrome
  • p.Ala470Thr Multiple submitters Malan overgrowth syndrome
  • p.Gly311= Multiple submitters Marshall-Smith syndrome
  • p.Gly423Ser Multiple submitters Marshall-Smith syndrome
  • p.Pro342= Multiple submitters Marshall-Smith syndrome
  • p.Pro428= Multiple submitters Marshall-Smith syndrome
  • p.Ser188= Multiple submitters Marshall-Smith syndrome
  • p.Ser380= Multiple submitters Marshall-Smith syndrome

Likely benign 156

Uncertain significance 132