"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ACAT1"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 877555	NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)	ACAT1 (I52T)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 1292232	NM_000019.4(ACAT1):c.239-8del	ACAT1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1074893	NM_000019.4(ACAT1):c.261dup (p.Glu88fs)	ACAT1 (E88fs)	Duplication (frameshift variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 198029	NM_000019.4(ACAT1):c.455G>C (p.Gly152Ala)	ACAT1 (G152A)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 92296	NM_000019.4(ACAT1):c.471C>A (p.Ser157=)	ACAT1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 92297	NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)	ACAT1 (N158D)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 198030	NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)	ACAT1 (N158S)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +2 more	GPathogenic/Likely pathogenic
Select item 2833	NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)	ACAT1 (G183R)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 1074319	NM_000019.4(ACAT1):c.571del (p.Ile191fs)	ACAT1 (I101fs +3 more)	Deletion (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 990347	NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)	ACAT1 (A213T)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2840	NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)	ACAT1 (Q272*)	Single nucleotide variant (nonsense)	Deficiency of acetyl-CoA acetyltransferase +1 more	GPathogenic
Select item 1408987	NM_000019.4(ACAT1):c.824del (p.Asn275fs)	ACAT1 (N170fs +3 more)	Deletion (frameshift variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 166650	NM_000019.4(ACAT1):c.826+1G>T	ACAT1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2844	NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)	ACAT1 (I312T)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 666516	NM_000019.4(ACAT1):c.951C>T (p.Asp317=)	ACAT1	Single nucleotide variant (synonymous variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 302207	NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)	ACAT1	Single nucleotide variant (synonymous variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GBenign/Likely benign
Select item 990351	NM_000019.4(ACAT1):c.1200T>C (p.His400=)	ACAT1	Single nucleotide variant (synonymous variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign