"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "OXCT1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 353662	NM_000436.4(OXCT1):c.733-3T>C	OXCT1	Single nucleotide variant (intron variant)	Succinyl-CoA acetoacetate transferase deficiency +1 more	GBenign/Likely benign
Select item 714583	NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu)	OXCT1 (R217L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 167411	NM_000436.4(OXCT1):c.480G>T (p.Gly160=)	OXCT1	Single nucleotide variant (synonymous variant +1 more)	Succinyl-CoA acetoacetate transferase deficiency +2 more	GBenign
Select item 93004	NM_000436.4(OXCT1):c.414+7A>C	OXCT1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 242800	NM_000436.4(OXCT1):c.173C>T (p.Thr58Met)	OXCT1 (T58M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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

ClinVar