Related gene-specific medical variations for Gene (Select 894) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264540	NM_001759.4(CCND2):c.196-205_250del	CCND2, CCND2-AS1	Deletion (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 3257387	NM_001759.4(CCND2):c.122G>A (p.Cys41Tyr)	CCND2, CCND2-AS1 (C41Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3139899	NM_001759.4(CCND2):c.344C>G (p.Thr115Ser)	CCND2, CCND2-AS1 (T115S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3139898	NM_001759.4(CCND2):c.113T>G (p.Leu38Arg)	CCND2, CCND2-AS1 (L38R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3036591	NM_001759.4(CCND2):c.33C>T (p.Val11=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	CCND2-related disorder	GLikely benign
Select item 2990288	NM_001759.4(CCND2):c.196-19T>C	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958548	NM_001759.4(CCND2):c.195+13dup	CCND2, CCND2-AS1	Duplication (intron variant)	not provided	GBenign
Select item 2818548	NM_001759.4(CCND2):c.9G>A (p.Leu3=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809676	NM_001759.4(CCND2):c.25G>T (p.Asp9Tyr)	CCND2, CCND2-AS1 (D9Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768438	NM_001759.4(CCND2):c.344C>T (p.Thr115Ile)	CCND2, CCND2-AS1 (T115I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2715815	NM_001759.4(CCND2):c.222A>G (p.Glu74=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706140	NM_001759.4(CCND2):c.308C>T (p.Ala103Val)	CCND2, CCND2-AS1 (A103V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2391370	NM_001759.4(CCND2):c.352C>A (p.Leu118Met)	CCND2, CCND2-AS1 (L118M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324207	NM_001759.4(CCND2):c.88C>A (p.Leu30Met)	CCND2, CCND2-AS1 (L30M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2024329	NM_001759.4(CCND2):c.195+17C>A	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916851	NM_001759.4(CCND2):c.357C>T (p.Thr119=)	CCND2-AS1, CCND2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1901460	NM_001759.4(CCND2):c.94A>G (p.Thr32Ala)	CCND2, CCND2-AS1 (T32A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806540	NM_001759.4(CCND2):c.100G>C (p.Glu34Gln)	CCND2, CCND2-AS1 (E34Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661484	NM_001759.4(CCND2):c.231C>T (p.Phe77=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1649879	NM_001759.4(CCND2):c.234T>A (p.Pro78=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1319226	NM_001759.4(CCND2):c.544C>T (p.Gln182Ter)	CCND2 (Q182*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1280861	NM_001759.4(CCND2):c.114T>G (p.Leu38=)	CCND2, CCND2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1209058	NM_001759.4(CCND2):c.195+269A>C	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204105	NM_001759.4(CCND2):c.196-104A>T	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195560	NM_001759.4(CCND2):c.196-31G>C	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 987230	NM_001759.4(CCND2):c.829C>T (p.Gln277Ter)	CCND2 (Q277*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 872569	NM_001759.4(CCND2):c.793C>T (p.Gln265Ter)	CCND2 (Q265*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 806776	NM_001759.4(CCND2):c.853C>G (p.Arg285Gly)	CCND2 (R285G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 774212	NM_001759.4(CCND2):c.196-7A>C	CCND2, CCND2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678294	NM_001759.4(CCND2):c.-171C>T	CCND2, CCND2-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 507367	NM_001759.4(CCND2):c.-36G>T	CCND2, CCND2-AS1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign

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Links from Gene

Items: 35