CDK2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 3141536	NM_001798.5(CDK2):c.28A>C (p.Ile10Leu)	CDK2 (I10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336624	NM_001798.5(CDK2):c.170A>C (p.Glu57Ala)	CDK2 (E57A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326489	NM_001798.5(CDK2):c.236T>G (p.Val79Gly)	CDK2 (V79G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265445	NM_001798.5(CDK2):c.313A>G (p.Lys105Glu)	CDK2 (K105E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741794	NM_001798.5(CDK2):c.825T>A (p.Ile275=)	CDK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1807602	GRCh37/hg19 12q13.2(chr12:56056806-56438901)x3	BLOC1S1, CD63 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1527711	GRCh37/hg19 12q13.2-13.3(chr12:56333262-57010442)	ANKRD52, APOF +30 more	Copy number gain	not specified	GUncertain significance
Select item 1527710	GRCh37/hg19 12q13.2(chr12:55975308-56593032)	BLOC1S1, CD63 +25 more	Copy number gain	not specified	GUncertain significance
Select item 980439	GRCh37/hg19 12q13.2(chr12:56333246-56558418)x3	CDK2, DGKA +13 more	Copy number gain	not provided	GUncertain significance
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic