Sugi Variant

Sugi Variant/NFIB

NFIB — 224 ClinVar variants

All ClinVar germline NFIB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

14 Pathogenic · 7 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 3 Conflicting · 2 Benign · 45 Likely benign · 127 Uncertain significance

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

⚑ Evidence disagreements 89

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.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 72

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

Predictors split 15

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

All NFIB variants

Pathogenic 14

  • p.Arg37Ter Multiple submitters macrocephaly, acquired, with impaired intellectual development
  • c.562+1G>A Single submitter
  • c.686-2A>G Single submitter macrocephaly, acquired, with impaired intellectual development
  • p.Arg122Ter Single submitter
  • p.Asn254Ter Single submitter intellectual disability
  • p.Gln10fs Single submitter macrocephaly, acquired, with impaired intellectual development
  • p.Glu282Ter Single submitter
  • p.Ile355fs Single submitter intellectual disability
  • p.Lys114Thr Single submitter intellectual disability
  • p.Thr274fs Single submitter macrocephaly, acquired, with impaired intellectual development
  • p.Trp31fs Single submitter macrocephaly, acquired, with impaired intellectual development
  • p.Tyr290Ter Single submitter
  • p.Val257fs Single submitter NFIB-related disorder
  • p.Arg358fs No assertion criteria macrocephaly, acquired, with impaired intellectual development

Pathogenic/Likely pathogenic 7

  • p.Arg301Ter Multiple submitters macrocephaly, acquired, with impaired intellectual development
  • p.Arg39Cys Multiple submitters macrocephaly, acquired, with impaired intellectual development
  • p.Arg48Ter Multiple submitters macrocephaly, acquired, with impaired intellectual development
  • p.Arg89Ter Multiple submitters intellectual disability
  • p.Asp125fs Multiple submitters Inborn genetic diseases
  • p.Leu132Pro Multiple submitters macrocephaly, acquired, with impaired intellectual development
  • p.Lys126Glu Multiple submitters macrocephaly, acquired, with impaired intellectual development

Likely pathogenic 26

  • p.Gln123Ter Multiple submitters macrocephaly, acquired, with impaired intellectual development
  • p.Ser356Ter Multiple submitters macrocephaly, acquired, with impaired intellectual development
  • c.1061-1G>C Single submitter Inborn genetic diseases
  • c.1245+1G>A Single submitter macrocephaly, acquired, with impaired intellectual development
  • c.1385-2A>G Single submitter NFIB-related disorder
  • c.807-1G>A Single submitter NFIB-related disorder
  • p.Ala28Val Single submitter
  • p.Arg444Gln Single submitter
  • p.Asp110Glu Single submitter
  • p.Cys120Ter Single submitter
  • p.Gln341Ter Single submitter NFIB-related disorder
  • p.Gln35Ter Single submitter macrocephaly, acquired, with impaired intellectual development
  • p.Gln489Ter Single submitter macrocephaly, acquired, with impaired intellectual development
  • p.Gly193Ter Single submitter
  • p.Leu130fs Single submitter
  • p.Lys114Glu Single submitter macrocephaly, acquired, with impaired intellectual development
  • p.Lys126fs Single submitter
  • p.Lys139Thr Single submitter NFIB-related disorder
  • p.Lys318fs Single submitter macrocephaly, acquired, with impaired intellectual development
  • p.Lys51fs Single submitter macrocephaly, acquired, with impaired intellectual development
  • p.Met310fs Single submitter NFIB-related disorder
  • p.Pro245fs Single submitter
  • p.Pro365fs Single submitter NFIB-related disorder
  • p.Pro66fs Single submitter NFIB-related disorder
  • p.Ser292fs Single submitter NFIB-related disorder
  • p.Ser364fs Single submitter NFIB-related disorder

Conflicting classifications of pathogenicity 3

  • p.Arg129His Single submitter macrocephaly, acquired, with impaired intellectual development ⚠
  • p.Arg444Ter Single submitter macrocephaly, acquired, with impaired intellectual development ⚠
  • p.Ser449Arg Single submitter Inborn genetic diseases

Benign 2

Likely benign 45

Uncertain significance 127