Sugi Variant

Sugi Variant/KATNB1

KATNB1 — 424 ClinVar variants

All ClinVar germline KATNB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

11 Pathogenic · 6 Likely pathogenic · 15 Conflicting · 50 Benign · 16 Benign/Likely benign · 179 Likely benign · 147 Uncertain significance

Full KATNB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 134

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 11

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

Predictors lean, ClinVar uncertain 102

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

Predictors split 21

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

All KATNB1 variants

Pathogenic 11

  • c.1047-1G>A Single submitter
  • p.Arg44fs Single submitter Inborn genetic diseases
  • p.Asn54fs Single submitter
  • p.Gln324Ter Single submitter lissencephaly 6 with microcephaly
  • p.Gly33Trp Single submitter lissencephaly 6 with microcephaly
  • p.Ser297fs Single submitter
  • c.432+1G>A No assertion criteria lissencephaly 6 with microcephaly
  • p.Leu540Arg No assertion criteria lissencephaly 6 with microcephaly
  • p.Met1Val No assertion criteria lissencephaly 6 with microcephaly
  • p.Ser535Leu No assertion criteria lissencephaly 6 with microcephaly ⚠
  • p.Val150fs No assertion criteria lissencephaly 6 with microcephaly

Likely pathogenic 6

Conflicting classifications of pathogenicity 15

Benign 50

Benign/Likely benign 16

Likely benign 179

Uncertain significance 147