Sugi Variant

Sugi Variant/ANK3

ANK3 — 1786 ClinVar variants

All ClinVar germline ANK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 806 flagged for review →

15 Pathogenic · 1 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 80 Conflicting · 63 Benign · 32 Benign/Likely benign · 444 Likely benign · 1137 Uncertain significance

Full ANK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 806

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 52

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 681

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 681

Predictors split 71

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

All ANK3 variants

Pathogenic 15

  • c.2948+1G>A Single submitter
  • p.Ala1197fs Single submitter intellectual disability-hypotonia-spasticity-sleep disorder syndrome
  • p.Arg1176Ter Single submitter Inborn genetic diseases
  • p.Arg4163Ter Single submitter
  • p.Gln1055Ter Single submitter neurodevelopmental disorder
  • p.Gln2812fs Single submitter
  • p.Gln887Ter Single submitter intellectual disability-hypotonia-spasticity-sleep disorder syndrome
  • p.Glu1949Ter Single submitter ANK3-related disorder
  • p.Glu2357fs Single submitter classic medulloblastoma
  • p.Ile3117fs Single submitter
  • p.Leu286fs Single submitter Inborn genetic diseases
  • p.Lys4020fs Single submitter
  • p.Ser32fs Single submitter
  • p.Pro3678fs No assertion criteria intellectual disability-hypotonia-spasticity-sleep disorder syndrome
  • p.Thr3666fs No assertion criteria intellectual disability-hypotonia-spasticity-sleep disorder syndrome

Pathogenic/Likely pathogenic 1

  • p.Arg1456fs Multiple submitters intellectual disability-hypotonia-spasticity-sleep disorder syndrome

Likely pathogenic 14

  • c.212_216+1del Single submitter
  • c.217-2A>G Single submitter
  • p.Ala622fs Single submitter
  • p.Arg1623Ter Single submitter intellectual disability-hypotonia-spasticity-sleep disorder syndrome
  • p.Arg211Ter Single submitter intellectual disability-hypotonia-spasticity-sleep disorder syndrome
  • p.Arg3549Ter Single submitter
  • p.Arg709Ter Single submitter intellectual disability-hypotonia-spasticity-sleep disorder syndrome
  • p.Asp1271fs Single submitter
  • p.Gln4304Ter Single submitter intellectual disability-hypotonia-spasticity-sleep disorder syndrome
  • p.Glu1110fs Single submitter congenital nervous system disorder
  • p.Leu3218Phe Single submitter Abnormal brain morphology ⚠
  • p.Leu698Pro Single submitter
  • p.Thr4263fs Single submitter
  • p.Tyr902Ter Single submitter intellectual disability-hypotonia-spasticity-sleep disorder syndrome

Conflicting classifications of pathogenicity 80

Benign 63

Benign/Likely benign 32

Likely benign 444

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

Uncertain significance 1137

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