CCNK — 85 ClinVar variants
All ClinVar germline CCNK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
1 Pathogenic · 4 Benign · 12 Likely benign · 68 Uncertain significance
Full CCNK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CCNK p.Arg80Cys
Uncertain significance
Multiple submitters
intellectual developmental disorder with hypertelorism and distinctive facies
-
CCNK p.Val246Ile
Uncertain significance
Multiple submitters
intellectual developmental disorder with hypertelorism and distinctive facies
- CCNK p.Ala54Thr Uncertain significance Single submitter
- CCNK p.Arg121Cys Uncertain significance Single submitter
- CCNK p.Arg232Lys Uncertain significance Single submitter
- CCNK p.Arg374Gln Uncertain significance Single submitter
- CCNK p.Arg419Gln Uncertain significance Single submitter
- CCNK p.Arg55Leu Uncertain significance Single submitter
- CCNK p.Asp306Glu Uncertain significance Single submitter
- CCNK p.Asp395Asn Uncertain significance Single submitter
- CCNK p.Gln318Pro Uncertain significance Single submitter
- CCNK p.Gln332His Uncertain significance Single submitter
- CCNK p.Gly40Arg Uncertain significance Single submitter
- CCNK p.Gly566Ser Uncertain significance Single submitter
- CCNK p.His33Arg Uncertain significance Single submitter
- CCNK p.Ile358Thr Uncertain significance Single submitter
- CCNK p.Ile358Val Uncertain significance Single submitter
- CCNK p.Leu396Val Uncertain significance Single submitter
- CCNK p.Lys334Gln Uncertain significance Single submitter
- CCNK p.Met230Thr Uncertain significance Single submitter
- CCNK p.Met83Lys Uncertain significance Single submitter
- CCNK p.Pro10Thr Uncertain significance Single submitter
- CCNK p.Pro110Ser Uncertain significance Single submitter
- CCNK p.Ser259Ala Uncertain significance Single submitter
- CCNK p.Thr434Ala Uncertain significance Single submitter
- CCNK p.Val12Ile Uncertain significance Single submitter
- CCNK p.Val157Leu Uncertain significance Single submitter
- CCNK p.Val210Gly Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
-
CCNK p.Arg48Gln
Uncertain significance
Multiple submitters
CCNK-related disorder
- CCNK p.Pro462Thr Uncertain significance Multiple submitters
-
CCNK p.Val333Phe
Uncertain significance
Multiple submitters
intellectual developmental disorder with hypertelorism and distinctive facies
- CCNK p.Ala317Gly Uncertain significance Single submitter
- CCNK p.Arg374Trp Uncertain significance Single submitter
- CCNK p.Asp245Asn Uncertain significance Single submitter
- CCNK p.Gln318Glu Uncertain significance Single submitter
- CCNK p.Gln319Arg Uncertain significance Single submitter
-
CCNK p.Gly455Arg
Uncertain significance
Single submitter
intellectual developmental disorder with hypertelorism and distinctive facies
- CCNK p.Ile151Val Uncertain significance Single submitter
- CCNK p.Ile205Val Uncertain significance Single submitter
- CCNK p.Lys177Arg Uncertain significance Single submitter
- CCNK p.Pro136Ser Uncertain significance Single submitter
- CCNK p.Pro286Leu Uncertain significance Single submitter
-
CCNK p.Pro293Leu
Uncertain significance
Single submitter
intellectual developmental disorder with hypertelorism and distinctive facies
- CCNK p.Pro325Leu Uncertain significance Single submitter
- CCNK p.Pro353Leu Uncertain significance Single submitter
- CCNK p.Pro364Leu Uncertain significance Single submitter
- CCNK p.Pro366Ser Uncertain significance Single submitter
- CCNK p.Pro407Leu Uncertain significance Single submitter
- CCNK p.Pro422Leu Uncertain significance Single submitter
- CCNK p.Pro425Ala Uncertain significance Single submitter
- CCNK p.Pro552Ser Uncertain significance Single submitter
- CCNK p.Pro552Thr Uncertain significance Single submitter
- CCNK p.Pro557His Uncertain significance Single submitter
- CCNK p.Pro559His Uncertain significance Single submitter
- CCNK p.Pro563Leu Uncertain significance Single submitter
- CCNK p.Pro568Leu Uncertain significance Single submitter
- CCNK p.Ser297Cys Uncertain significance Single submitter
- CCNK p.Val285Met Uncertain significance Single submitter
- CCNK p.Val337Met Uncertain significance Single submitter
- CCNK p.Val391Met Uncertain significance Single submitter
- CCNK p.Val410Glu Uncertain significance Single submitter
- CCNK p.Pro414Leu Uncertain significance No assertion criteria
All CCNK variants
Pathogenic 1
- p.Lys111Glu No assertion criteria intellectual developmental disorder with hypertelorism and distinctive facies
Benign 4
- c.280-5T>C Multiple submitters intellectual developmental disorder with hypertelorism and distinctive facies
- c.517+8_517+10del Single submitter
- p.Leu165= No assertion criteria CCNK-related disorder
- p.Pro531= No assertion criteria CCNK-related disorder
Likely benign 12
- c.1012-7G>C Single submitter
- p.Glu46= Single submitter
- p.Pro482= Single submitter
- p.Pro484= Single submitter
- p.Pro508= Single submitter
- p.Pro510= Single submitter
- p.Pro518= Single submitter
- p.Ser11= Single submitter
- p.Tyr465= Single submitter
- p.Pro414= No assertion criteria CCNK-related disorder
- p.Ser259= No assertion criteria CCNK-related disorder
- p.Thr453= No assertion criteria CCNK-related disorder
Uncertain significance 68
- p.Arg48Gln Multiple submitters CCNK-related disorder ⚠
- p.Arg80Cys Multiple submitters intellectual developmental disorder with hypertelorism and distinctive facies ⚠
- p.Pro462Thr Multiple submitters ⚠
- p.Val246Ile Multiple submitters intellectual developmental disorder with hypertelorism and distinctive facies ⚠
- p.Val333Phe Multiple submitters intellectual developmental disorder with hypertelorism and distinctive facies ⚠
- p.Ala317Gly Single submitter ⚠
- p.Ala54Thr Single submitter ⚠
- p.Arg121Cys Single submitter ⚠
- p.Arg232Lys Single submitter ⚠
- p.Arg374Gln Single submitter ⚠
- p.Arg374Trp Single submitter ⚠
- p.Arg419Gln Single submitter ⚠
- p.Arg51Ter Single submitter
- p.Arg55Leu Single submitter ⚠
- p.Asp245Asn Single submitter ⚠
- p.Asp306Glu Single submitter ⚠
- p.Asp395Asn Single submitter ⚠
- p.Gln275Ter Single submitter intellectual developmental disorder with hypertelorism and distinctive facies
- p.Gln318Glu Single submitter ⚠
- p.Gln318Pro Single submitter ⚠
- p.Gln319Arg Single submitter ⚠
- p.Gln332His Single submitter ⚠
- p.Glu46fs Single submitter intellectual developmental disorder with hypertelorism and distinctive facies
- p.Gly40Arg Single submitter ⚠
- p.Gly455Arg Single submitter intellectual developmental disorder with hypertelorism and distinctive facies ⚠
- p.Gly566Ser Single submitter ⚠
- p.His33Arg Single submitter ⚠
- p.Ile151Val Single submitter ⚠
- p.Ile205Val Single submitter ⚠
- p.Ile358Thr Single submitter ⚠
- p.Ile358Val Single submitter ⚠
- p.Leu396Val Single submitter ⚠
- p.Lys177Arg Single submitter ⚠
- p.Lys334Gln Single submitter ⚠
- p.Met1Val Single submitter intellectual developmental disorder with hypertelorism and distinctive facies
- p.Met230Thr Single submitter ⚠
- p.Met83Lys Single submitter ⚠
- p.Pro10Thr Single submitter ⚠
- p.Pro110Ser Single submitter ⚠
- p.Pro136Ser Single submitter ⚠
- p.Pro286Leu Single submitter ⚠
- p.Pro293Leu Single submitter intellectual developmental disorder with hypertelorism and distinctive facies ⚠
- p.Pro325Leu Single submitter ⚠
- p.Pro353Leu Single submitter ⚠
- p.Pro364Leu Single submitter ⚠
- p.Pro366Ser Single submitter ⚠
- p.Pro407Leu Single submitter ⚠
- p.Pro422Leu Single submitter ⚠
- p.Pro425Ala Single submitter ⚠
- p.Pro552Ser Single submitter ⚠
- p.Pro552Thr Single submitter ⚠
- p.Pro557His Single submitter ⚠
- p.Pro559His Single submitter ⚠
- p.Pro563Leu Single submitter ⚠
- p.Pro568Leu Single submitter ⚠
- p.Ser259Ala Single submitter ⚠
- p.Ser297Cys Single submitter ⚠
- p.Thr434Ala Single submitter ⚠
- p.Val12Ile Single submitter ⚠
- p.Val157Leu Single submitter ⚠
- p.Val210Gly Single submitter ⚠
- p.Val285Met Single submitter ⚠
- p.Val288_Gln289insProGlnVal Single submitter
- p.Val337Met Single submitter ⚠
- p.Val391Met Single submitter ⚠
- p.Val410Glu Single submitter ⚠
- p.His476fs No assertion criteria CCNK-related disorder
- p.Pro414Leu No assertion criteria ⚠