Related gene-specific medical variations for Gene (Select 100874002) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 93008	NM_000436.4(OXCT1):c.78+10dup	OXCT1, OXCT1-AS1	Duplication (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 93002	NM_000436.4(OXCT1):c.-5C>G	OXCT1, OXCT1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance