C0342792[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800772	NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)	OXCT1 (R438C +4 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GLikely pathogenic
Select item 1404673	NM_000436.4(OXCT1):c.1370C>G (p.Thr457Arg)	OXCT1 (T455R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2434534	NM_000436.4(OXCT1):c.863G>C (p.Gly288Ala)	OXCT1 (G102A +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GUncertain significance
Select item 2434532	NM_000436.4(OXCT1):c.564+44C>T	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2434533	NM_000436.4(OXCT1):c.523A>G (p.Asn175Asp)	OXCT1 (N175D +1 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 1324841	NM_000436.4(OXCT1):c.450dup (p.Gly151fs)	OXCT1 (G151fs +1 more)	Duplication (frameshift variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely pathogenic
Select item 828111	NM_000436.4(OXCT1):c.370C>T (p.Arg124Ter)	OXCT1 (R124* +1 more)	Single nucleotide variant (nonsense +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely pathogenic
Select item 1324840	NM_000436.4(OXCT1):c.278+1G>A	OXCT1	Single nucleotide variant (splice donor variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely pathogenic
Select item 2689646	NM_000436.4(OXCT1):c.251G>A (p.Gly84Glu)	OXCT1 (G84E +1 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance