"GeneDx"[submitter] AND "CCND2"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 673833	NM_001759.3(CCND2):c.-608A>G	CCND2, CCND2-AS1	Single nucleotide variant	not provided	GBenign
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
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 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 3371289	NM_001759.4(CCND2):c.137G>C (p.Cys46Ser)	CCND2, CCND2-AS1 (C46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 676960	NM_001759.4(CCND2):c.412-108C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2446510	NM_001759.4(CCND2):c.493C>T (p.Arg165Cys)	CCND2 (R165C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 507274	NM_001759.4(CCND2):c.524C>G (p.Ser175Cys)	CCND2 (S175C)	Single nucleotide variant (missense 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 3375853	NM_001759.4(CCND2):c.571+6A>G	CCND2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 385080	NM_001759.4(CCND2):c.571+20G>A	CCND2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1198828	NM_001759.4(CCND2):c.571+57G>A	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216458	NM_001759.4(CCND2):c.571+168A>G	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220672	NM_001759.4(CCND2):c.571+186C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211164	NM_001759.4(CCND2):c.571+239A>C	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245963	NM_001759.4(CCND2):c.572-302T>A	CCND2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225707	NM_001759.4(CCND2):c.572-242G>C	CCND2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2504353	NM_001759.4(CCND2):c.588G>A (p.Met196Ile)	CCND2 (M196I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391416	NM_001759.4(CCND2):c.597G>A (p.Pro199=)	CCND2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2579408	NM_001759.4(CCND2):c.614G>C (p.Gly205Ala)	CCND2 (G205A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293193	NM_001759.4(CCND2):c.720+195del	CCND2	Deletion (intron variant)	not provided	GBenign
Select item 1199906	NM_001759.4(CCND2):c.720+294T>C	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206948	NM_001759.4(CCND2):c.721-319A>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677577	NM_001759.4(CCND2):c.721-109C>T	CCND2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511836	NM_001759.4(CCND2):c.756G>A (p.Ala252=)	CCND2	Single nucleotide variant (synonymous variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 +1 more	GBenign/Likely benign
Select item 451218	NM_001759.4(CCND2):c.763C>A (p.Leu255Ile)	CCND2 (L255I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 376994	NM_001759.4(CCND2):c.785G>A (p.Arg262His)	CCND2 (R262H)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1280659	NM_001759.4(CCND2):c.802G>A (p.Gly268Arg)	CCND2 (G268R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1313576	NM_001759.4(CCND2):c.826G>A (p.Asp276Asn)	CCND2 (D276N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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
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 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 520663	NM_001759.4(CCND2):c.841C>G (p.Pro281Ala)	CCND2 (P281A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
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 2577699	NM_001759.4(CCND2):c.851_856dup (p.Arg285_Asp286insValArg)	CCND2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1326086	NM_001759.4(CCND2):c.*36A>C	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1220485	NM_001759.4(CCND2):c.*171C>T	CCND2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign/Likely benign
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic

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Items: 44