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Links from MedGen

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCND2, CCND2-AS1
Single nucleotide variant
(splice acceptor variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
GUncertain significance
CCND2
(S271*)
Single nucleotide variant
(nonsense)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
GLikely pathogenic
CCND2
(R165H)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
GUncertain significance
CCND2
(L187V)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
GUncertain significance
CCND2, CCND2-AS1
Single nucleotide variant
(5 prime UTR variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
GBenign
CCND2
(T280I)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
+1 more
GConflicting classifications of pathogenicity
CCND2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CCND2
Single nucleotide variant
(synonymous variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
+2 more
GBenign
CCND2
(V284G)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Gnot provided
CCND2
(P281L)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
GPathogenic
CCND2
(P281R)
Single nucleotide variant
(missense variant)
CCND2-related condition
+1 more
GConflicting classifications of pathogenicity
CCND2
(P281S)
Single nucleotide variant
(missense variant)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
GPathogenic
CCND2
(T280N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
CCND2
(K270*)
Single nucleotide variant
(nonsense)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
GPathogenic
CCND2
(T280A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic
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