Sugi Variant

Sugi Variant/CCDC40

CCDC40 — 1152 ClinVar variants

All ClinVar germline CCDC40 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 459 flagged for review →

70 Pathogenic · 12 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 78 Conflicting · 128 Benign · 32 Benign/Likely benign · 348 Likely benign · 456 Uncertain significance

Full CCDC40 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 459

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 30

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

Predictors lean, ClinVar uncertain 259

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 259

Predictors split 169

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 169

All CCDC40 variants

Pathogenic 70

Pathogenic/Likely pathogenic 12

  • c.2449+2_2449+5del Multiple submitters primary ciliary dyskinesia 15
  • c.2712-1G>T Multiple submitters primary ciliary dyskinesia 15
  • c.855+1G>A Multiple submitters primary ciliary dyskinesia
  • c.940-1G>C Multiple submitters primary ciliary dyskinesia
  • p.Arg1053fs Multiple submitters primary ciliary dyskinesia
  • p.Arg1059Ter Multiple submitters primary ciliary dyskinesia
  • p.Asn887fs Multiple submitters primary ciliary dyskinesia
  • p.Gln142Ter Multiple submitters primary ciliary dyskinesia
  • p.Gly728fs Multiple submitters primary ciliary dyskinesia
  • p.Lys918fs Multiple submitters primary ciliary dyskinesia
  • p.Phe1044fs Multiple submitters primary ciliary dyskinesia
  • p.Tyr1118Ter Multiple submitters Respiratory ciliopathies including non-CF bronchiectasis

Likely pathogenic 28

  • c.1159+1G>A Multiple submitters macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
  • c.1159+3A>T Single submitter primary ciliary dyskinesia
  • c.1160-2_1162del Single submitter primary ciliary dyskinesia 15
  • c.1160-2A>C Single submitter primary ciliary dyskinesia
  • c.2235+1G>T Single submitter primary ciliary dyskinesia
  • c.2450-1G>A Single submitter primary ciliary dyskinesia
  • c.2711+1G>A Single submitter primary ciliary dyskinesia
  • c.2832+297G>T Single submitter primary ciliary dyskinesia 15
  • c.2832+382GGCACGTGCACGAACAACACGGGACGCGCGCA[3] Single submitter primary ciliary dyskinesia 15
  • c.2832+395dup Single submitter primary ciliary dyskinesia 15
  • c.3181-2A>G Single submitter primary ciliary dyskinesia
  • c.677-1G>T Single submitter primary ciliary dyskinesia
  • c.677-2A>G Single submitter primary ciliary dyskinesia
  • c.856-2A>G Single submitter primary ciliary dyskinesia
  • p.Gln676Ter Single submitter primary ciliary dyskinesia 15
  • p.Gln826Ter Single submitter primary ciliary dyskinesia 15
  • p.Glu1020Ter Single submitter primary ciliary dyskinesia 15
  • p.Glu1032Ter Single submitter primary ciliary dyskinesia 15
  • p.Glu659Ter Single submitter primary ciliary dyskinesia
  • p.Glu753fs Single submitter primary ciliary dyskinesia 15
  • p.Leu900fs Single submitter primary ciliary dyskinesia 15
  • p.Lys944Ter Single submitter CCDC40-related disorder
  • p.Ser101Ter Single submitter primary ciliary dyskinesia 15
  • p.Ser598fs Single submitter primary ciliary dyskinesia 15
  • p.Thr100fs Single submitter primary ciliary dyskinesia 15
  • p.Val279fs Single submitter primary ciliary dyskinesia 15
  • c.93+2T>C No assertion criteria primary ciliary dyskinesia
  • p.Glu365Ter No assertion criteria primary ciliary dyskinesia

Conflicting classifications of pathogenicity 78

Benign 128

Benign/Likely benign 32

  • c.1440+16G>A Multiple submitters primary ciliary dyskinesia
  • c.1441-18C>G Multiple submitters primary ciliary dyskinesia
  • c.2832+20G>A Multiple submitters primary ciliary dyskinesia
  • c.2832+315G>A Multiple submitters
  • c.2832+332_2832+395del Multiple submitters primary ciliary dyskinesia 15
  • c.677-3del Multiple submitters primary ciliary dyskinesia
  • c.-36C>T Multiple submitters
  • c.*265C>T Multiple submitters primary ciliary dyskinesia 15
  • p.Ala378Thr Multiple submitters primary ciliary dyskinesia
  • p.Ala458Thr Multiple submitters primary ciliary dyskinesia 15
  • p.Ala60= Multiple submitters primary ciliary dyskinesia
  • p.Ala894= Multiple submitters primary ciliary dyskinesia
  • p.Arg687= Multiple submitters primary ciliary dyskinesia
  • p.Arg779His Multiple submitters primary ciliary dyskinesia ⚠
  • p.Arg870Cys Multiple submitters primary ciliary dyskinesia ⚠
  • p.Asp211Asn Multiple submitters primary ciliary dyskinesia ⚠
  • p.Asp216= Multiple submitters primary ciliary dyskinesia
  • p.Asp233= Multiple submitters primary ciliary dyskinesia
  • p.Glu1117Lys Multiple submitters primary ciliary dyskinesia
  • p.Glu435Lys Multiple submitters primary ciliary dyskinesia 15 ⚠
  • p.Glu511Lys Multiple submitters primary ciliary dyskinesia ⚠
  • p.Gly929Ser Multiple submitters primary ciliary dyskinesia ⚠
  • p.Ile407Thr Multiple submitters primary ciliary dyskinesia
  • p.Ile928= Multiple submitters primary ciliary dyskinesia 15
  • p.Leu1136= Multiple submitters primary ciliary dyskinesia
  • p.Leu752Pro Multiple submitters primary ciliary dyskinesia ⚠
  • p.Lys375Gln Multiple submitters primary ciliary dyskinesia
  • p.Ser1142Pro Multiple submitters primary ciliary dyskinesia
  • p.Thr1022= Multiple submitters primary ciliary dyskinesia
  • p.Thr574= Multiple submitters primary ciliary dyskinesia
  • p.Tyr1083= Multiple submitters primary ciliary dyskinesia
  • p.Val1114Met Multiple submitters primary ciliary dyskinesia

Likely benign 348

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

Uncertain significance 456

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