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

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611216	NM_199133.4(ATPSCKMT):c.677A>C (p.His226Pro)	ATPSCKMT (H226P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3132102	NM_199133.4(ATPSCKMT):c.671C>T (p.Ser224Leu)	ATPSCKMT (S207L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3132101	NM_199133.4(ATPSCKMT):c.671C>G (p.Ser224Trp)	ATPSCKMT (S207W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2474792	NM_199133.4(ATPSCKMT):c.629A>G (p.Asp210Gly)	ATPSCKMT (D193G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3132099	NM_199133.4(ATPSCKMT):c.579G>T (p.Trp193Cys)	ATPSCKMT (W193C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3132097	NM_199133.4(ATPSCKMT):c.386G>A (p.Arg129His)	ATPSCKMT (R129H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132096	NM_199133.4(ATPSCKMT):c.350A>T (p.Glu117Val)	ATPSCKMT (E117V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132095	NM_199133.4(ATPSCKMT):c.257G>A (p.Arg86Gln)	ATPSCKMT (R86Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3132094	NM_199133.4(ATPSCKMT):c.214C>T (p.Pro72Ser)	ATPSCKMT (P72S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132093	NM_199133.4(ATPSCKMT):c.179C>T (p.Thr60Met)	ATPSCKMT (T60M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132092	NM_199133.4(ATPSCKMT):c.170C>T (p.Pro57Leu)	ATPSCKMT (P57L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132100	NM_199133.4(ATPSCKMT):c.61G>T (p.Val21Phe)	ATPSCKMT (V21F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622125	NM_199133.4(ATPSCKMT):c.61G>A (p.Val21Ile)	ATPSCKMT (V21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132098	NM_199133.4(ATPSCKMT):c.46A>G (p.Ser16Gly)	ATPSCKMT (S16G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance