ClinVar for MedGen (Select 863179) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254550	NM_001759.4(CCND2):c.838A>C (p.Thr280Pro)	CCND2 (T280P)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GPathogenic
Select item 3237411	NM_001759.4(CCND2):c.774G>C (p.Leu258=)	CCND2	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GUncertain significance
Select item 3066255	NM_001759.4(CCND2):c.196-1G>A	CCND2, CCND2-AS1	Single nucleotide variant (splice acceptor variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GUncertain significance
Select item 2504114	NM_001759.4(CCND2):c.812C>A (p.Ser271Ter)	CCND2 (S271*)	Single nucleotide variant (nonsense)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GLikely pathogenic
Select item 2439813	NM_001759.4(CCND2):c.494G>A (p.Arg165His)	CCND2 (R165H)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GUncertain significance
Select item 1805679	NM_001759.4(CCND2):c.559C>G (p.Leu187Val)	CCND2 (L187V)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GUncertain significance
Select item 1192627	NM_001759.4(CCND2):c.-49T>C	CCND2, CCND2-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 666559	NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)	CCND2 (T280I)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 511836	NM_001759.4(CCND2):c.756G>A (p.Ala252=)	CCND2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 380772	NM_001759.4(CCND2):c.570C>G (p.Thr190=)	CCND2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 273674	NM_001759.4(CCND2):c.851T>G (p.Val284Gly)	CCND2 (V284G)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Gnot provided
Select item 143986	NM_001759.4(CCND2):c.842C>T (p.Pro281Leu)	CCND2 (P281L)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GPathogenic
Select item 143985	NM_001759.4(CCND2):c.842C>G (p.Pro281Arg)	CCND2 (P281R)	Single nucleotide variant (missense variant)	CCND2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 143984	NM_001759.4(CCND2):c.841C>T (p.Pro281Ser)	CCND2 (P281S)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 +1 more	GPathogenic
Select item 143983	NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)	CCND2 (T280N)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 +1 more	GPathogenic/Likely pathogenic
Select item 143982	NM_001759.4(CCND2):c.808A>T (p.Lys270Ter)	CCND2 (K270*)	Single nucleotide variant (nonsense)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GPathogenic
Select item 143981	NM_001759.4(CCND2):c.838A>G (p.Thr280Ala)	CCND2 (T280A)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 +2 more	GPathogenic