Sugi Variant

Sugi Variant/MAP1B

MAP1B — 682 ClinVar variants

All ClinVar germline MAP1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 431 flagged for review →

18 Pathogenic · 6 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 7 Conflicting · 22 Benign · 10 Benign/Likely benign · 165 Likely benign · 433 Uncertain significance

Full MAP1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 431

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 5

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

Predicted LoF vs a conflicting call 2

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 310

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 310

Predictors split 112

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

All MAP1B variants

Pathogenic 18

Pathogenic/Likely pathogenic 6

  • p.Arg1664Ter Multiple submitters neurodevelopmental disorder
  • p.Arg303Ter Multiple submitters periventricular nodular heterotopia 9
  • p.Arg85Ter Multiple submitters periventricular nodular heterotopia 9
  • p.Arg999Ter Multiple submitters hearing loss, autosomal dominant 83
  • p.Pro752fs Multiple submitters periventricular nodular heterotopia 9
  • p.Gln532Ter No assertion criteria periventricular nodular heterotopia 9

Likely pathogenic 21

Conflicting classifications of pathogenicity 7

Benign 22

Benign/Likely benign 10

Likely benign 165

Uncertain significance 433

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