Sugi Variant

Sugi Variant/NBAS

NBAS — 2762 ClinVar variants

All ClinVar germline NBAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1012 flagged for review →

117 Pathogenic · 31 Pathogenic/Likely pathogenic · 91 Likely pathogenic · 166 Conflicting · 158 Benign · 38 Benign/Likely benign · 1165 Likely benign · 996 Uncertain significance

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

⚑ Evidence disagreements 1012

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 2

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

Predictors agree, ClinVar conflicts 126

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

Predictors lean, ClinVar uncertain 700

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 700

Predictors split 184

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 184

All NBAS variants

Pathogenic 117

Pathogenic/Likely pathogenic 31

  • c.209+2T>G Multiple submitters
  • c.335+1G>C Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • c.513+2T>C Multiple submitters NBAS-related disorder
  • p.Arg1236Ter Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Arg137Trp Multiple submitters infantile liver failure syndrome 2 ⚠
  • p.Arg1446Ter Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Arg1585Ter Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Arg1995Ter Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Arg456Ter Multiple submitters infantile liver failure syndrome 2
  • p.Arg501Ter Multiple submitters infantile liver failure syndrome 2
  • p.Arg57Ter Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Arg581Ter Multiple submitters NBAS-related disorder
  • p.Arg797Ter Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Asp2149_Ile2150insTer Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Gln1106Ter Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Gln1282fs Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Gln1324Ter Multiple submitters
  • p.Gln2232fs Multiple submitters
  • p.Gln44fs Multiple submitters
  • p.Gln663Ter Multiple submitters infantile liver failure
  • p.Glu1092fs Multiple submitters Autosomal recessive NBAS-related disorders
  • p.Ile984fs Multiple submitters infantile liver failure syndrome 2
  • p.Leu1445fs Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Leu1507fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
  • p.Leu1726fs Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Leu1962fs Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Leu864fs Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Trp395Ter Multiple submitters NBAS-related disorder
  • p.Trp791Ter Multiple submitters Monogenic short statue
  • p.Tyr142Ter Multiple submitters short stature-optic atrophy-Pelger-Huët anomaly syndrome
  • p.Val1613fs Multiple submitters acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Likely pathogenic 91

Conflicting classifications of pathogenicity 166

Benign 158

Benign/Likely benign 38

Likely benign 1165

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 996

Showing the top 300 by review status; the full set is in the sitemap.