CKMT1B[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2263893	NM_001375484.1(CKMT1B):c.721G>T (p.Ala241Ser)	CKMT1B (A241S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289474	NM_001375484.1(CKMT1B):c.742C>T (p.Arg248Cys)	CKMT1B (R248C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145262	NM_001375484.1(CKMT1B):c.805C>T (p.Arg269Trp)	CKMT1B (R269W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221965	NM_001375484.1(CKMT1B):c.824A>G (p.Lys275Arg)	CKMT1B (K275R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604172	NM_001375484.1(CKMT1B):c.830G>A (p.Gly277Asp)	CKMT1B (G277D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267493	NM_001375484.1(CKMT1B):c.877G>A (p.Val293Met)	CKMT1B (V293M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267491	NM_001375484.1(CKMT1B):c.1015A>G (p.Ser339Gly)	CKMT1B (S339G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267490	NM_001375484.1(CKMT1B):c.1055A>C (p.Lys352Thr)	CKMT1B (K352T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408870	NM_001375484.1(CKMT1B):c.1093G>A (p.Gly365Ser)	CKMT1B (G365S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3267494	NM_001375484.1(CKMT1B):c.1097T>C (p.Val366Ala)	CKMT1B (V366A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243008	NM_001375484.1(CKMT1B):c.1106T>G (p.Ile369Ser)	CKMT1B (I369S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145260	NM_001375484.1(CKMT1B):c.1121G>A (p.Arg374Gln)	CKMT1B (R374Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351987	NM_001375484.1(CKMT1B):c.1162G>A (p.Asp388Asn)	CKMT1B (D388N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778548	NM_001375484.1(CKMT1B):c.1196G>A (p.Arg399His)	CKMT1B (R399H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3145261	NM_001375484.1(CKMT1B):c.1220G>A (p.Arg407His)	CKMT1B (R407H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance