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

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559339	NM_198834.3(ACACA):c.6924G>A (p.Ala2308=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2683417	NM_198834.3(ACACA):c.6720+2dup	ACACA	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 559340	NM_198834.3(ACACA):c.6444A>C (p.Arg2148=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 559342	NM_198834.3(ACACA):c.4777-8dup	ACACA	Duplication (intron variant)	not provided	GBenign
Select item 559341	NM_198834.3(ACACA):c.4777-7C>G	ACACA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3022505	NM_198834.3(ACACA):c.3617G>A (p.Arg1206His)	ACACA (R1206H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559343	NM_198834.3(ACACA):c.3475-10T>C	ACACA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559344	NM_198834.3(ACACA):c.3122-6G>A	ACACA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 559345	NM_198834.3(ACACA):c.2082-10_2082-8dup	ACACA	Duplication (intron variant)	not provided	GBenign
Select item 559346	NM_198834.3(ACACA):c.1923G>A (p.Gln641=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 559347	NM_198834.3(ACACA):c.1009-3A>C	ACACA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 559348	NM_198834.3(ACACA):c.999T>C (p.Asp333=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559349	NM_198834.3(ACACA):c.926A>G (p.Asn309Ser)	ACACA (N272S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559350	NM_198834.3(ACACA):c.547C>A (p.Arg183=)	ACACA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign