Sugi Variant

Sugi Variant/CAMTA1

CAMTA1 — 925 ClinVar variants

All ClinVar germline CAMTA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 478 flagged for review →

50 Pathogenic · 6 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 27 Conflicting · 41 Benign · 26 Benign/Likely benign · 245 Likely benign · 486 Uncertain significance

Full CAMTA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 478

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 20

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 297

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 297

Predictors split 159

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 159

All CAMTA1 variants

Pathogenic 50

  • p.Arg1048Ter Multiple submitters cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Arg982Ter Multiple submitters
  • p.Ser806fs Multiple submitters cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Trp880Ter Multiple submitters cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Tyr297fs Multiple submitters Inborn genetic diseases
  • c.(234+1_235-1 Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • c.511-18459_511-15460del Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • c.511-1G>A Single submitter intellectual disability
  • p.Arg1605Ter Single submitter
  • p.Asn941fs Single submitter
  • p.Asp799fs Single submitter
  • p.Cys192Ter Single submitter
  • p.Cys713fs Single submitter Inborn genetic diseases
  • p.Gln1254fs Single submitter
  • p.Gln1311Ter Single submitter
  • p.Gln1352Ter Single submitter
  • p.Gln256Ter Single submitter Inborn genetic diseases
  • p.Gln583Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Gln610Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Gln816fs Single submitter
  • p.Gln896fs Single submitter CAMTA1-related disorder
  • p.Glu1368fs Single submitter
  • p.Glu1373fs Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Glu205Ter Single submitter
  • p.Glu314Ter Single submitter Inborn genetic diseases
  • p.Glu91Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Gly193fs Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Gly295fs Single submitter
  • p.Gly640fs Single submitter
  • p.Ile1404fs Single submitter
  • p.Lys141fs Single submitter Inborn genetic diseases
  • p.Lys208_Trp209insTer Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Lys99fs Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Pro1350fs Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Pro359fs Single submitter
  • p.Ser44fs Single submitter
  • p.Ser600fs Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Thr691fs Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Thr860fs Single submitter
  • p.Trp1197fs Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Trp167Ter Single submitter Inborn genetic diseases
  • p.Trp880fs Single submitter
  • p.Tyr1538Ter Single submitter
  • p.Val244fs Single submitter Inborn genetic diseases
  • p.Val378fs Single submitter
  • p.Val386fs Single submitter
  • p.Ala82_Tyr83insTer No assertion criteria cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Asp486fs No assertion criteria cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Glu135Gly No assertion criteria cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Leu61fs No assertion criteria cerebellar dysfunction with variable cognitive and behavioral abnormalities

Pathogenic/Likely pathogenic 6

  • p.Arg1411Ter Multiple submitters cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Arg1582Ter Multiple submitters Inborn genetic diseases
  • p.Arg1594Ter Multiple submitters cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Arg1641Ter Multiple submitters cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Glu135Lys Multiple submitters Neurodevelopmental abnormality
  • p.Lys1589fs Multiple submitters cerebellar dysfunction with variable cognitive and behavioral abnormalities

Likely pathogenic 44

  • c.4183-1G>A Multiple submitters cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Trp1321Ter Multiple submitters cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • c.116-17_117del Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • c.2653-2A>G Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • c.2915-2A>G Single submitter Inborn genetic diseases
  • c.3342+1G>T Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • c.4370+1G>A Single submitter
  • c.4371-2A>C Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • c.438+1G>A Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • c.4618-1G>A Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • c.4679_4689+23del Single submitter
  • c.4690-2A>G Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Arg1457Ter Single submitter
  • p.Arg163Gln Single submitter
  • p.Arg163Gly Single submitter neurodevelopmental disorder
  • p.Arg955Trp Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Asp875Asn Single submitter
  • p.Cys904Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Gln1546Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Gln1563Ter Single submitter
  • p.Gln1587Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Gln1624Ter Single submitter
  • p.Glu582Ter Single submitter
  • p.Glu78= Single submitter
  • p.Glu818Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Gly150Ser Single submitter
  • p.Gly269Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Gly886Glu Single submitter
  • p.Met507fs Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Ser106Ter Single submitter
  • p.Ser1473Asn Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities ⚠
  • p.Ser267fs Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Ser515Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Thr959fs Single submitter neurodevelopmental disorder
  • p.Trp895Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Tyr1077Cys Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Tyr1558Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Tyr745Ter Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Val726fs Single submitter cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Cys820Ter No assertion criteria cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Gln1455Ter No assertion criteria CAMTA1-related disorder
  • p.Ser1517fs No assertion criteria cerebellar dysfunction with variable cognitive and behavioral abnormalities
  • p.Ser280fs No assertion criteria CAMTA1-related disorder
  • p.Ser309Ter No assertion criteria

Conflicting classifications of pathogenicity 27

Benign 41

Benign/Likely benign 26

Likely benign 245

Uncertain significance 486

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