"Ambry Genetics"[submitter] AND "LOC129933018"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3146244	NM_207315.4(CMPK2):c.452G>C (p.Gly151Ala)	CMPK2, LOC129933018 (G151A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591765	NM_207315.4(CMPK2):c.452G>A (p.Gly151Asp)	CMPK2, LOC129933018 (G151D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620444	NM_207315.4(CMPK2):c.442G>C (p.Glu148Gln)	CMPK2, LOC129933018 (E148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146243	NM_207315.4(CMPK2):c.413A>C (p.Asp138Ala)	CMPK2, LOC129933018 (D138A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335915	NM_207315.4(CMPK2):c.392T>C (p.Phe131Ser)	CMPK2, LOC129933018 (F131S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267984	NM_207315.4(CMPK2):c.364G>C (p.Gly122Arg)	CMPK2, LOC129933018 (G122R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293910	NM_207315.4(CMPK2):c.295C>A (p.Leu99Met)	CMPK2, LOC129933018 (L99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251973	NM_207315.4(CMPK2):c.239C>T (p.Thr80Ile)	CMPK2, LOC129933018 (T80I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466278	NM_207315.4(CMPK2):c.188C>T (p.Ala63Val)	CMPK2, LOC129933018 (A63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603766	NM_207315.4(CMPK2):c.151G>A (p.Ala51Thr)	CMPK2, LOC129933018 (A51T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261397	NM_207315.4(CMPK2):c.145G>T (p.Ala49Ser)	CMPK2, LOC129933018 (A49S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520459	NM_207315.4(CMPK2):c.103C>G (p.Leu35Val)	CMPK2, LOC129933018 (L35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146249	NM_207315.4(CMPK2):c.71C>G (p.Ala24Gly)	CMPK2, LOC129933018 (A24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146246	NM_207315.4(CMPK2):c.59G>C (p.Arg20Pro)	CMPK2, LOC129933018 (R20P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance