CCND2 — 160 ClinVar variants
All ClinVar germline CCND2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
9 Pathogenic · 5 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 5 Conflicting · 13 Benign · 6 Benign/Likely benign · 49 Likely benign · 70 Uncertain significance
Full CCND2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CCND2 p.Arg165Cys Uncertain significance Multiple submitters
- CCND2 p.Ala103Val Uncertain significance Single submitter
- CCND2 p.Ala252Glu Uncertain significance Single submitter
-
CCND2 p.Arg165His
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- CCND2 p.Arg171Gln Uncertain significance Single submitter
- CCND2 p.Arg18Pro Uncertain significance Single submitter
-
CCND2 p.Arg266His
Uncertain significance
Single submitter
Inborn genetic diseases
- CCND2 p.Arg285Gln Uncertain significance Single submitter
- CCND2 p.Arg285Gly Uncertain significance Single submitter
- CCND2 p.Asn256Lys Uncertain significance Single submitter
-
CCND2 p.Asp267Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CCND2 p.Asp276Asn Uncertain significance Single submitter
- CCND2 p.Asp286Glu Uncertain significance Single submitter
- CCND2 p.Asp9Gly Uncertain significance Single submitter
- CCND2 p.Asp9Tyr Uncertain significance Single submitter
-
CCND2 p.Cys212Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CCND2 p.Cys41Tyr Uncertain significance Single submitter
- CCND2 p.Cys46Ser Uncertain significance Single submitter
- CCND2 p.Gln170Arg Uncertain significance Single submitter
-
CCND2 p.Gln249His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Gln28Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CCND2 p.Glu248Lys Uncertain significance Single submitter
- CCND2 p.Glu34Gln Uncertain significance Single submitter
- CCND2 p.Gly205Ala Uncertain significance Single submitter
- CCND2 p.His97Arg Uncertain significance Single submitter
-
CCND2 p.Leu187Val
Uncertain significance
Single submitter
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- CCND2 p.Leu255Ile Uncertain significance Single submitter
- CCND2 p.Leu84Val Uncertain significance Single submitter
- CCND2 p.Lys270Asn Uncertain significance Single submitter
-
CCND2 p.Pro10Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Pro198Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CCND2 p.Pro53Leu Uncertain significance Single submitter
- CCND2 p.Thr115Ile Uncertain significance Single submitter
- CCND2 p.Thr204Ser Uncertain significance Single submitter
- CCND2 p.Val284Met Uncertain significance Single submitter
-
CCND2 p.Gln169Arg
Uncertain significance
No assertion criteria
CCND2-related disorder
Predictors split 27
The independent predictors disagree with each other — read with care.
-
CCND2 p.Arg178Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCND2 p.Gly268Arg
Benign/Likely benign
Multiple submitters
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- CCND2 p.Ser175Cys Benign/Likely benign Multiple submitters
-
CCND2 p.Thr280Pro
Pathogenic/Likely pathogenic
Multiple submitters
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
-
CCND2 p.Val284Glu
Pathogenic/Likely pathogenic
Multiple submitters
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
-
CCND2 p.Ala120Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Ala189Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CCND2 p.Arg262Cys Uncertain significance Single submitter
- CCND2 p.Asp283Glu Uncertain significance Single submitter
- CCND2 p.Ile131Val Uncertain significance Single submitter
-
CCND2 p.Leu112Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Leu118Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Leu30Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Leu38Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CCND2 p.Met196Ile Uncertain significance Single submitter
-
CCND2 p.Phe192Val
Uncertain significance
Single submitter
neuromuscular disease and ocular or auditory anomalies with or without seizures
- CCND2 p.Pro133Leu Uncertain significance Single submitter
-
CCND2 p.Ser116Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Ser116Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Ser222Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CCND2 p.Ser269Phe Uncertain significance Single submitter
-
CCND2 p.Thr115Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Thr115Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Val240Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCND2 p.Val284Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CCND2 p.Val91Gly Uncertain significance Single submitter
- CCND2 p.Ile287Ser Uncertain significance No assertion criteria
All CCND2 variants
Pathogenic 9
- p.Pro281Ala Multiple submitters Inborn genetic diseases
- p.Pro281Ser Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- p.Thr280Ala Multiple submitters Inborn genetic diseases
- p.Gln215Ter Single submitter Inborn genetic diseases
- p.Gln265Ter Single submitter
- p.Glu272Ter Single submitter Inborn genetic diseases
- p.Leu141fs Single submitter
- p.Lys270Ter Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- p.Pro281Leu Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Pathogenic/Likely pathogenic 5
- p.Gln277Ter Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- p.Thr280Asn Multiple submitters Lennox-Gastaut syndrome
- p.Thr280Ile Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- p.Thr280Pro Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 ⚠
- p.Val284Glu Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 ⚠
Likely pathogenic 3
- p.Ser271Ter Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- p.Glu274fs Single submitter Inborn genetic diseases
- p.Gly268Ter Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Conflicting classifications of pathogenicity 5
- p.Ala152Glu Single submitter ⚠
- p.Ala252Val Single submitter ⚠
- p.Pro281Arg Single submitter CCND2-related disorder ⚠
- p.Ser271Leu Single submitter ⚠
- p.Thr32Ala Single submitter ⚠
Benign 13
- c.-171C>T Multiple submitters
- c.-36G>T Multiple submitters
- c.-49T>C Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- p.Thr190= Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- c.195+13dup Single submitter
- c.571+186C>T Single submitter
- c.572-242G>C Single submitter
- c.572-302T>A Single submitter
- c.720+195del Single submitter
- c.-608A>G Single submitter
- c.*1256C>T Single submitter
- c.*2206C>T Single submitter
- c.*479T>C Single submitter
Benign/Likely benign 6
- c.*171C>T Multiple submitters
- p.Ala252= Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- p.Arg262His Multiple submitters
- p.Gly268Arg Multiple submitters megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 ⚠
- p.Leu38= Multiple submitters
- p.Ser175Cys Multiple submitters ⚠
Likely benign 49
- c.196-31G>C Multiple submitters
- c.571+20G>A Multiple submitters
- c.721-109C>T Multiple submitters
- p.Asp267= Multiple submitters
- c.195+17C>A Single submitter
- c.195+269A>C Single submitter
- c.196-104A>T Single submitter
- c.196-19T>C Single submitter
- c.196-7A>C Single submitter
- c.411+7A>T Single submitter
- c.412-108C>T Single submitter
- c.571+168A>G Single submitter
- c.571+18C>T Single submitter
- c.571+239A>C Single submitter
- c.571+57G>A Single submitter
- c.572-17C>T Single submitter
- c.720+294T>C Single submitter
- c.721-11C>T Single submitter
- c.721-319A>T Single submitter
- c.721-7G>A Single submitter
- c.*1872G>A Single submitter
- c.*21GA[3] Single submitter
- c.*2539C>A Single submitter
- c.*36A>C Single submitter
- c.*3991C>T Single submitter
- c.*412C>T Single submitter
- c.*769A>G Single submitter
- p.Arg22Gln Single submitter Inborn genetic diseases
- p.Asn256= Single submitter
- p.Asp283= Single submitter
- p.Glu218= Single submitter
- p.Glu74= Single submitter
- p.Ile202= Single submitter
- p.Leu174= Single submitter
- p.Leu27= Single submitter
- p.Leu3= Single submitter
- p.Lys234= Single submitter
- p.Phe77= Single submitter
- p.Pro168= Single submitter
- p.Pro198= Single submitter
- p.Pro199= Single submitter
- p.Pro53= Single submitter
- p.Pro78= Single submitter
- p.Thr119= Single submitter
- p.Thr127= Single submitter
- p.Thr229= Single submitter
- c.572-4G>T No assertion criteria CCND2-related disorder
- p.Arg285= No assertion criteria CCND2-related disorder
- p.Val11= No assertion criteria CCND2-related disorder
Uncertain significance 70
- p.Arg165Cys Multiple submitters ⚠
- p.Arg178Cys Multiple submitters Inborn genetic diseases ⚠
- c.196-1G>A Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- c.196-205_250del Single submitter Inborn genetic diseases
- c.571+6A>G Single submitter
- c.572-3531C>T Single submitter
- p.Ala103Val Single submitter ⚠
- p.Ala120Ser Single submitter Inborn genetic diseases ⚠
- p.Ala189Val Single submitter Inborn genetic diseases ⚠
- p.Ala252Glu Single submitter ⚠
- p.Arg165His Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 ⚠
- p.Arg171Gln Single submitter ⚠
- p.Arg18Pro Single submitter ⚠
- p.Arg262Cys Single submitter ⚠
- p.Arg266His Single submitter Inborn genetic diseases ⚠
- p.Arg285_Asp286insValArg Single submitter
- p.Arg285Gln Single submitter ⚠
- p.Arg285Gly Single submitter ⚠
- p.Asn256Lys Single submitter ⚠
- p.Asp267Glu Single submitter Inborn genetic diseases ⚠
- p.Asp267Ter Single submitter Inborn genetic diseases
- p.Asp276Asn Single submitter ⚠
- p.Asp283Glu Single submitter ⚠
- p.Asp286Glu Single submitter ⚠
- p.Asp9Gly Single submitter ⚠
- p.Asp9Tyr Single submitter ⚠
- p.Cys212Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys41Tyr Single submitter ⚠
- p.Cys46Ser Single submitter ⚠
- p.Gln170Arg Single submitter ⚠
- p.Gln182Ter Single submitter
- p.Gln249His Single submitter Inborn genetic diseases ⚠
- p.Gln259Ter Single submitter
- p.Gln28Lys Single submitter Inborn genetic diseases ⚠
- p.Glu248Lys Single submitter ⚠
- p.Glu34Gln Single submitter ⚠
- p.Gly205Ala Single submitter ⚠
- p.His97Arg Single submitter ⚠
- p.Ile131Val Single submitter ⚠
- p.Leu112Val Single submitter Inborn genetic diseases ⚠
- p.Leu118Met Single submitter Inborn genetic diseases ⚠
- p.Leu147= Single submitter
- p.Leu187Val Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 ⚠
- p.Leu255Ile Single submitter ⚠
- p.Leu258= Single submitter megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- p.Leu30Met Single submitter Inborn genetic diseases ⚠
- p.Leu38Arg Single submitter Inborn genetic diseases ⚠
- p.Leu84Val Single submitter ⚠
- p.Lys270Asn Single submitter ⚠
- p.Met196Ile Single submitter ⚠
- p.Phe192Val Single submitter neuromuscular disease and ocular or auditory anomalies with or without seizures ⚠
- p.Pro10Leu Single submitter Inborn genetic diseases ⚠
- p.Pro133Leu Single submitter ⚠
- p.Pro198Arg Single submitter Inborn genetic diseases ⚠
- p.Pro53Leu Single submitter ⚠
- p.Ser116Arg Single submitter Inborn genetic diseases ⚠
- p.Ser116Asn Single submitter Inborn genetic diseases ⚠
- p.Ser222Leu Single submitter Inborn genetic diseases ⚠
- p.Ser269Phe Single submitter ⚠
- p.Ter290= Single submitter
- p.Thr115Ile Single submitter ⚠
- p.Thr115Pro Single submitter Inborn genetic diseases ⚠
- p.Thr115Ser Single submitter Inborn genetic diseases ⚠
- p.Thr204Ser Single submitter ⚠
- p.Val240Met Single submitter Inborn genetic diseases ⚠
- p.Val284Ala Single submitter Inborn genetic diseases ⚠
- p.Val284Met Single submitter ⚠
- p.Val91Gly Single submitter ⚠
- p.Gln169Arg No assertion criteria CCND2-related disorder ⚠
- p.Ile287Ser No assertion criteria ⚠