CCND3[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 3139904	NM_001760.5(CCND3):c.824G>A (p.Ser275Asn)	CCND3 (S194N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139903	NM_001760.5(CCND3):c.745G>A (p.Ala249Thr)	CCND3 (A168T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139901	NM_001760.5(CCND3):c.689C>T (p.Ala230Val)	CCND3 (A149V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711316	NM_001760.5(CCND3):c.684G>C (p.Leu228=)	CCND3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2393012	NM_001760.5(CCND3):c.521G>A (p.Arg174Gln)	CCND3 (R124Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309336	NM_001760.5(CCND3):c.460G>T (p.Ala154Ser)	CCND3 (A154S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594759	NM_001760.5(CCND3):c.391G>A (p.Ala131Thr)	CCND3 (A50T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351779	NM_001760.5(CCND3):c.365A>G (p.Glu122Gly)	CCND3 (E72G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298702	NM_001760.5(CCND3):c.253C>A (p.Leu85Met)	CCND3 (L35M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719035	NM_001760.5(CCND3):c.249C>T (p.Asn83=)	CCND3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2300500	NM_001760.5(CCND3):c.244A>G (p.Met82Val)	CCND3 (M1V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535320	NM_001760.5(CCND3):c.97C>G (p.Arg33Gly)	CCND3 (R33G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251430	NM_001760.5(CCND3):c.52G>A (p.Asp18Asn)	CCND3 (D18N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1282713	NM_001136017.3(CCND3):c.-45-16836C>T	CCND3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 979550	GRCh37/hg19 6p21.1(chr6:41922573-42024827)x1	CCND3, TAF8	Copy number loss	not provided	GLikely benign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 24