"Ambry Genetics"[submitter] AND "CAMK2G"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2360142	NM_001367534.1(CAMK2G):c.1409C>A (p.Ala470Asp)	CAMK2G (A377D +25 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2240307	NM_001367534.1(CAMK2G):c.1361C>G (p.Ala454Gly)	CAMK2G (A422G +14 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2206079	NM_001367534.1(CAMK2G):c.1318C>T (p.Pro440Ser)	CAMK2G (P281S +13 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2486128	NM_001367534.1(CAMK2G):c.1233A>T (p.Glu411Asp)	CAMK2G (E379D +16 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251970	NM_001367534.1(CAMK2G):c.1181A>G (p.Asn394Ser)	CAMK2G (N235S +15 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595900	NM_001367534.1(CAMK2G):c.1105A>C (p.Asn369His)	CAMK2G (N348H +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2496022	NM_001367534.1(CAMK2G):c.665T>G (p.Leu222Arg)	CAMK2G (L222R +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2265525	NM_001367534.1(CAMK2G):c.644G>C (p.Trp215Ser)	CAMK2G (W111S +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2537297	NM_001367534.1(CAMK2G):c.351A>G (p.Ile117Met)	CAMK2G (I13M +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2603287	NM_001367534.1(CAMK2G):c.343C>A (p.His115Asn)	CAMK2G (H33N +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance