Sugi Variant

Sugi Variant/CPLANE1

CPLANE1 — 2531 ClinVar variants

All ClinVar germline CPLANE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 932 flagged for review →

167 Pathogenic · 47 Pathogenic/Likely pathogenic · 116 Likely pathogenic · 115 Conflicting · 115 Benign · 35 Benign/Likely benign · 774 Likely benign · 1162 Uncertain significance

Full CPLANE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 932

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 4

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

Predictors agree, ClinVar conflicts 55

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

Predictors lean, ClinVar uncertain 822

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 822

Predictors split 51

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

All CPLANE1 variants

Pathogenic 167

Pathogenic/Likely pathogenic 47

  • c.1372-2A>G Multiple submitters CPLANE1-related disorder
  • c.2291+2T>C Multiple submitters Joubert syndrome 17
  • c.3290-2A>G Multiple submitters orofaciodigital syndrome type 6
  • c.3673-1G>C Multiple submitters Joubert syndrome 17
  • c.7588+7A>G Multiple submitters orofaciodigital syndrome type 6
  • c.834+1G>T Multiple submitters
  • c.8959-2A>G Multiple submitters
  • c.9017+1G>A Multiple submitters Joubert syndrome 17
  • p.Ala1200Glu Multiple submitters orofaciodigital syndrome type 6
  • p.Ala1269Pro Multiple submitters Joubert syndrome and related disorders ⚠
  • p.Ala1783Asp Multiple submitters Joubert syndrome 17
  • p.Arg1184Cys Multiple submitters
  • p.Arg1193Cys Multiple submitters Joubert syndrome and related disorders
  • p.Arg1226Ter Multiple submitters Joubert syndrome 17
  • p.Arg1336Trp Multiple submitters orofaciodigital syndrome type 6 ⚠
  • p.Arg3016Ter Multiple submitters orofaciodigital syndrome type 6
  • p.Arg424Ter Multiple submitters orofaciodigital syndrome type 6
  • p.Arg466Ter Multiple submitters CPLANE1-related disorder
  • p.Arg871Cys Multiple submitters Joubert syndrome 17 ⚠
  • p.Asn1339Ter Multiple submitters Joubert syndrome 17
  • p.Asp1467fs Multiple submitters orofaciodigital syndrome type 6
  • p.Cys1277fs Multiple submitters orofaciodigital syndrome type 6
  • p.Gln2234Ter Multiple submitters orofaciodigital syndrome type 6
  • p.Gln855Ter Multiple submitters Joubert syndrome 17
  • p.Gln975Ter Multiple submitters Joubert syndrome 17
  • p.Glu142Lys Multiple submitters orofaciodigital syndrome type 6
  • p.Gly83Ter Multiple submitters Joubert syndrome and related disorders
  • p.Ile2119fs Multiple submitters Joubert syndrome 17
  • p.Ile980fs Multiple submitters Joubert syndrome 17
  • p.Leu1386fs Multiple submitters Joubert syndrome 17
  • p.Leu2624Ter Multiple submitters orofaciodigital syndrome type 6
  • p.Leu465fs Multiple submitters orofaciodigital syndrome type 6
  • p.Lys2345fs Multiple submitters orofaciodigital syndrome type 6
  • p.Met1958fs Multiple submitters orofaciodigital syndrome type 6
  • p.Met1Val Multiple submitters
  • p.Pro968fs Multiple submitters orofaciodigital syndrome type 6
  • p.Ser1127Leu Multiple submitters Joubert syndrome 17 ⚠
  • p.Ser1136fs Multiple submitters orofaciodigital syndrome type 6
  • p.Ser156fs Multiple submitters Joubert syndrome 17
  • p.Ser2160fs Multiple submitters orofaciodigital syndrome type 6
  • p.Ser626fs Multiple submitters orofaciodigital syndrome type 6
  • p.Ser875Phe Multiple submitters Joubert syndrome 17
  • p.Thr3107fs Multiple submitters Joubert syndrome 17
  • p.Thr776fs Multiple submitters orofaciodigital syndrome type 6
  • p.Trp1020fs Multiple submitters Joubert syndrome 17
  • p.Trp2593Ter Multiple submitters orofaciodigital syndrome type 6
  • p.Val1032fs Multiple submitters Joubert syndrome 17

Likely pathogenic 116

Conflicting classifications of pathogenicity 115

Benign 115

Benign/Likely benign 35

Likely benign 774

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

Uncertain significance 1162

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