"PreventionGenetics, part of Exact Sciences"[submitter] AND "ACACA"[ge - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2959426	NM_198834.3(ACACA):c.7014C>T (p.Leu2338=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 559339	NM_198834.3(ACACA):c.6924G>A (p.Ala2308=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1600886	NM_198834.3(ACACA):c.6634C>T (p.Leu2212=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder +1 more	GBenign/Likely benign
Select item 3047022	NM_198834.3(ACACA):c.6534C>T (p.Asp2178=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 559340	NM_198834.3(ACACA):c.6444A>C (p.Arg2148=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder +1 more	GBenign
Select item 1911747	NM_198834.3(ACACA):c.6282C>T (p.Tyr2094=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder +1 more	GLikely benign
Select item 3040867	NM_198834.3(ACACA):c.6024G>C (p.Val2008=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 3047451	NM_198834.3(ACACA):c.5574G>A (p.Thr1858=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 3043586	NM_198834.3(ACACA):c.5569-10C>G	ACACA	Single nucleotide variant (intron variant)	ACACA-related disorder	GLikely benign
Select item 3056885	NM_198834.3(ACACA):c.5202G>A (p.Leu1734=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 3043663	NM_198834.3(ACACA):c.5001C>T (p.Asp1667=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 559341	NM_198834.3(ACACA):c.4777-7C>G	ACACA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3042266	NM_198834.3(ACACA):c.4777-8del	ACACA	Deletion (intron variant)	ACACA-related disorder	GLikely benign
Select item 2957828	NM_198834.3(ACACA):c.4497C>T (p.Asn1499=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3047610	NM_198834.3(ACACA):c.4324C>G (p.Leu1442Val)	ACACA (L1327V +3 more)	Single nucleotide variant (missense variant)	ACACA-related disorder	GLikely benign
Select item 808254	NM_198834.3(ACACA):c.4057-5C>T	ACACA	Single nucleotide variant (intron variant)	ACACA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1988852	NM_198834.3(ACACA):c.3742A>G (p.Met1248Val)	ACACA (M1133V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3021287	NM_198834.3(ACACA):c.3558T>G (p.Ala1186=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 559343	NM_198834.3(ACACA):c.3475-10T>C	ACACA	Single nucleotide variant (intron variant)	ACACA-related disorder +1 more	GBenign
Select item 1049285	NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu)	ACACA (D1007E +3 more)	Single nucleotide variant (missense variant)	ACACA-related disorder +1 more	GBenign
Select item 559344	NM_198834.3(ACACA):c.3122-6G>A	ACACA	Single nucleotide variant (intron variant)	ACACA-related disorder +1 more	GBenign
Select item 3042828	NM_198834.3(ACACA):c.2970C>T (p.Asn990=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 1991748	NM_198834.3(ACACA):c.2958A>G (p.Ala986=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1528983	NM_198834.3(ACACA):c.2749G>C (p.Asp917His)	ACACA (D802H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3052495	NM_198834.3(ACACA):c.2367G>A (p.Ser789=)	ACACA	Single nucleotide variant (synonymous variant)	ACACA-related disorder	GLikely benign
Select item 559345	NM_198834.3(ACACA):c.2082-10_2082-8dup	ACACA	Duplication (intron variant)	ACACA-related disorder +1 more	GBenign
Select item 3009326	NM_198834.3(ACACA):c.1995C>T (p.Thr665=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 559346	NM_198834.3(ACACA):c.1923G>A (p.Gln641=)	ACACA	Single nucleotide variant (synonymous variant)	Acetyl-CoA: carboxylase deficiency +2 more	GBenign
Select item 1988771	NM_198834.3(ACACA):c.1602C>T (p.His534=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1660960	NM_198834.3(ACACA):c.1120-8T>C	ACACA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 559347	NM_198834.3(ACACA):c.1009-3A>C	ACACA	Single nucleotide variant (intron variant)	ACACA-related disorder +1 more	GLikely benign
Select item 559350	NM_198834.3(ACACA):c.547C>A (p.Arg183=)	ACACA	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3022984	NM_198834.3(ACACA):c.314A>T (p.Gln105Leu)	ACACA (Q105L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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Items: 33