Related gene-specific medical variations for Gene (Select 5019) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068143	NM_000436.4(OXCT1):c.955G>A (p.Ala319Thr)	OXCT1 (A133T +3 more)	Single nucleotide variant (missense variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 3062096	NM_000436.4(OXCT1):c.1456_1457del (p.Leu486fs)	OXCT1 (L300fs +4 more)	Microsatellite (frameshift variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely pathogenic
Select item 3022681	NM_000436.4(OXCT1):c.78+12G>A	OXCT1, OXCT1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 3017288	NM_000436.4(OXCT1):c.6G>A (p.Ala2=)	OXCT1, OXCT1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2910875	NM_000436.4(OXCT1):c.78+17G>A	OXCT1, OXCT1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2808799	NM_000436.4(OXCT1):c.1100-14G>C	LOC121725203, OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
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
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 2434532	NM_000436.4(OXCT1):c.564+44C>T	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2188784	NM_000436.4(OXCT1):c.1100-18GT[8]	LOC121725203, OXCT1	Microsatellite (intron variant)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GBenign/Likely benign
Select item 2153219	NM_000436.4(OXCT1):c.1100-19del	LOC121725203, OXCT1	Deletion (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 2144185	NM_000436.4(OXCT1):c.42C>T (p.Cys14=)	OXCT1, OXCT1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 2108636	NM_000436.4(OXCT1):c.1100-6G>T	LOC121725203, OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 2037417	NM_000436.4(OXCT1):c.1100-18GT[6]	LOC121725203, OXCT1	Microsatellite (intron variant)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 1951561	NM_000436.4(OXCT1):c.1146C>T (p.Ser382=)	LOC121725203, OXCT1	Single nucleotide variant (synonymous variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely benign
Select item 1514180	NM_000436.4(OXCT1):c.1115C>T (p.Thr372Ile)	LOC121725203, OXCT1 (T370I +3 more)	Single nucleotide variant (missense variant)	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 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 973561	NM_000436.4(OXCT1):c.1339-2A>G	OXCT1	Single nucleotide variant (splice acceptor variant)	Succinyl-CoA acetoacetate transferase deficiency	GLikely pathogenic
Select item 906612	NM_000436.4(OXCT1):c.16C>T (p.Leu6Phe)	OXCT1, OXCT1-AS1 (L6F)	Single nucleotide variant (non-coding transcript variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GUncertain significance
Select item 856000	NM_000436.4(OXCT1):c.39C>G (p.Leu13=)	OXCT1, OXCT1-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 838792	NM_000436.4(OXCT1):c.64G>T (p.Ala22Ser)	OXCT1, OXCT1-AS1 (A22S)	Single nucleotide variant (non-coding transcript variant +2 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 559328	NM_000436.4(OXCT1):c.35G>A (p.Arg12Gln)	OXCT1, OXCT1-AS1 (R12Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 353671	NM_000436.4(OXCT1):c.-60C>G	OXCT1, OXCT1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GBenign
Select item 353670	NM_000436.4(OXCT1):c.-54G>A	OXCT1, OXCT1-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency	GUncertain significance
Select item 242751	NM_000436.4(OXCT1):c.398T>A (p.Val133Glu)	OXCT1 (V133E +1 more)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 93008	NM_000436.4(OXCT1):c.78+10dup	OXCT1, OXCT1-AS1	Duplication (intron variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 93002	NM_000436.4(OXCT1):c.-5C>G	OXCT1-AS1, OXCT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance

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Links from Gene

Items: 28