CKMT1A[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267489	NM_001321926.2(CKMT1A):c.796G>T (p.Asp266Tyr)	CKMT1A (D266Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145257	NM_001321926.2(CKMT1A):c.1014T>A (p.Asp338Glu)	CKMT1A (D179E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360975	NM_001321926.2(CKMT1A):c.1019G>A (p.Arg340His)	CKMT1A (R340H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645279	NM_001321926.2(CKMT1A):c.1056G>A (p.Lys352=)	CKMT1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2397435	NM_001321926.2(CKMT1A):c.1058G>T (p.Arg353Leu)	CKMT1A (R384L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526054	NM_001321926.2(CKMT1A):c.1121G>A (p.Arg374Gln)	CKMT1A (R405Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145259	NM_001321926.2(CKMT1A):c.1136A>G (p.Glu379Gly)	CKMT1A (E410G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370820	NM_001321926.2(CKMT1A):c.1205G>A (p.Arg402Lys)	CKMT1A (R402K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645280	NM_001321926.2(CKMT1A):c.1209C>G (p.Gly403=)	CKMT1A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign