"CMPK2-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2629994	NM_207315.4(CMPK2):c.1071C>A (p.His357Gln)	CMPK2 (H357Q)	Single nucleotide variant (missense variant +2 more)	CMPK2-related disorder	GUncertain significance
Select item 3046192	NM_207315.4(CMPK2):c.476C>T (p.Pro159Leu)	CMPK2, LOC129933018 (P159L)	Single nucleotide variant (missense variant)	CMPK2-related disorder	GLikely benign
Select item 2629319	NM_207315.4(CMPK2):c.25C>A (p.Arg9Ser)	CMPK2 (R9S)	Single nucleotide variant (missense variant)	CMPK2-related disorder	GUncertain significance

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