38[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 147281	GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1	ACAT1, ALKBH8 +28 more	Copy number loss	See cases	GPathogenic
Select item 1272094	NM_001386681.1(ACAT1):c.-199+4314_-199+4315del	ACAT1	Deletion (intron variant)	not provided	GBenign
Select item 302193	NM_000019.3(ACAT1):c.-70T>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 302194	NM_000019.4(ACAT1):c.-28T>A	ACAT1	Single nucleotide variant (5 prime UTR variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GBenign
Select item 302196	NM_000019.4(ACAT1):c.-22C>T	ACAT1	Single nucleotide variant (5 prime UTR variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 302195	NM_000019.4(ACAT1):c.-22C>G	ACAT1	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 166648	NM_000019.4(ACAT1):c.-15C>G	ACAT1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 92294	NM_000019.4(ACAT1):c.-9T>A	ACAT1	Single nucleotide variant (5 prime UTR variant)	Deficiency of acetyl-CoA acetyltransferase +2 more	GBenign
Select item 880333	NM_000019.4(ACAT1):c.-5C>T	ACAT1	Single nucleotide variant (5 prime UTR variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2867418	NM_000019.4(ACAT1):c.1A>C (p.Met1Leu)	ACAT1 (M1L)	Single nucleotide variant (missense variant +4 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666460	NM_000019.4(ACAT1):c.1A>G (p.Met1Val)	ACAT1 (M1V)	Single nucleotide variant (missense variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666461	NM_000019.4(ACAT1):c.2T>C (p.Met1Thr)	ACAT1 (M1T)	Single nucleotide variant (missense variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2838	NM_000019.4(ACAT1):c.2T>A (p.Met1Lys)	ACAT1 (M1K)	Single nucleotide variant (missense variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 1034848	NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)	ACAT1 (A2V)	Single nucleotide variant (missense variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 1976179	NM_000019.4(ACAT1):c.9G>A (p.Val3=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2848139	NM_000019.4(ACAT1):c.10C>T (p.Leu4=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1195913	NM_000019.4(ACAT1):c.10C>G (p.Leu4Val)	ACAT1 (L4V)	Single nucleotide variant (missense variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 92295	NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)	ACAT1 (A5P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2413212	NM_000019.4(ACAT1):c.14C>T (p.Ala5Val)	ACAT1 (A5V)	Single nucleotide variant (missense variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2180015	NM_000019.4(ACAT1):c.15G>T (p.Ala5=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 302197	NM_000019.4(ACAT1):c.15G>C (p.Ala5=)	ACAT1	Single nucleotide variant (synonymous variant)	Deficiency of acetyl-CoA acetyltransferase	GConflicting classifications of pathogenicity
Select item 2863621	NM_000019.4(ACAT1):c.18A>G (p.Ala6=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2019720	NM_000019.4(ACAT1):c.21T>G (p.Leu7=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1117423	NM_000019.4(ACAT1):c.22C>T (p.Leu8=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2019558	NM_000019.4(ACAT1):c.24G>T (p.Leu8=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1556731	NM_000019.4(ACAT1):c.27C>T (p.Arg9=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 302198	NM_000019.4(ACAT1):c.29G>A (p.Ser10Asn)	ACAT1 (S10N)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 1416775	NM_000019.4(ACAT1):c.30del (p.Ser10fs)	ACAT1 (S10fs)	Deletion (frameshift variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2146514	NM_000019.4(ACAT1):c.31G>A (p.Gly11Ser)	ACAT1 (G11S)	Single nucleotide variant (missense variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2991984	NM_000019.4(ACAT1):c.33C>T (p.Gly11=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 968668	NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)	ACAT1 (A12T)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase +1 more	GUncertain significance
Select item 1140212	NM_000019.4(ACAT1):c.36C>T (p.Ala12=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1090301	NM_000019.4(ACAT1):c.36C>G (p.Ala12=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3018067	NM_000019.4(ACAT1):c.39C>A (p.Arg13=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1614386	NM_000019.4(ACAT1):c.39C>T (p.Arg13=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1102395	NM_000019.4(ACAT1):c.42C>T (p.Ser14=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1467232	NM_000019.4(ACAT1):c.43C>T (p.Arg15Cys)	ACAT1 (R15C)	Single nucleotide variant (missense variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 1639896	NM_000019.4(ACAT1):c.45C>T (p.Arg15=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 633029	NM_000019.4(ACAT1):c.52dup (p.Leu18fs)	ACAT1 (L18fs)	Duplication (frameshift variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 1616737	NM_000019.4(ACAT1):c.48C>T (p.Ser16=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1933446	NM_000019.4(ACAT1):c.49C>T (p.Pro17Ser)	ACAT1 (P17S)	Single nucleotide variant (missense variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2172327	NM_000019.4(ACAT1):c.51C>A (p.Pro17=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1531352	NM_000019.4(ACAT1):c.51C>G (p.Pro17=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3261204	NM_000019.4(ACAT1):c.52C>G (p.Leu18Val)	ACAT1 (L18V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1623229	NM_000019.4(ACAT1):c.57C>T (p.Leu19=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1556951	NM_000019.4(ACAT1):c.57C>A (p.Leu19=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 193031	NM_000019.4(ACAT1):c.60G>C (p.Arg20=)	ACAT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 842676	NM_000019.4(ACAT1):c.64_72+10del	ACAT1	Deletion (splice donor variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic/Likely pathogenic
Select item 2680313	NM_000019.4(ACAT1):c.70C>T (p.Gln24Ter)	ACAT1 (Q24*)	Single nucleotide variant (nonsense +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 990344	NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)	ACAT1 (Q24P)	Single nucleotide variant (missense variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2162824	NM_000019.4(ACAT1):c.72+6C>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 2705517	NM_000019.4(ACAT1):c.72+8G>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2914623	NM_000019.4(ACAT1):c.72+10G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1120480	NM_000019.4(ACAT1):c.72+10G>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1559522	NM_000019.4(ACAT1):c.72+13C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2801132	NM_000019.4(ACAT1):c.72+15T>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3020975	NM_000019.4(ACAT1):c.72+17C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2916465	NM_000019.4(ACAT1):c.72+19C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1237609	NM_000019.4(ACAT1):c.73-189T>C	ACAT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1592678	NM_000019.4(ACAT1):c.73-20_73-18del	ACAT1	Deletion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2750825	NM_000019.4(ACAT1):c.73-17_73-12del	ACAT1	Deletion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1624048	NM_000019.4(ACAT1):c.73-16_73-13del	ACAT1	Deletion (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2733243	NM_000019.4(ACAT1):c.73-18T>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2741832	NM_000019.4(ACAT1):c.73-13A>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2821155	NM_000019.4(ACAT1):c.73-10T>C	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2024882	NM_000019.4(ACAT1):c.73-10T>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2845011	NM_000019.4(ACAT1):c.73-9A>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 3031996	NM_000019.4(ACAT1):c.73-3C>T	ACAT1	Single nucleotide variant (intron variant)	ACAT1-related disorder	GLikely benign
Select item 2025114	NM_000019.4(ACAT1):c.73-1G>A	ACAT1	Single nucleotide variant (splice acceptor variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2826669	NM_000019.4(ACAT1):c.76dup (p.Ile26fs)	ACAT1 (I26fs)	Duplication (frameshift variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2101162	NM_000019.4(ACAT1):c.75_76del (p.Glu25fs)	ACAT1 (E25fs)	Deletion (frameshift variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2049870	NM_000019.4(ACAT1):c.76A>G (p.Ile26Val)	ACAT1 (I26V)	Single nucleotide variant (missense variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GUncertain significance
Select item 666462	NM_000019.4(ACAT1):c.79A>T (p.Arg27Ter)	ACAT1 (R27*)	Single nucleotide variant (nonsense)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 666463	NM_000019.4(ACAT1):c.83_84del (p.Tyr28fs)	ACAT1 (Y28fs)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 666464	NM_000019.4(ACAT1):c.86_87dup (p.Glu30fs)	ACAT1 (E30fs)	Microsatellite (frameshift variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 1123610	NM_000019.4(ACAT1):c.84T>C (p.Tyr28=)	ACAT1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 384097	NM_000019.4(ACAT1):c.85G>T (p.Val29Leu)	ACAT1 (V29L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 92300	NM_000019.4(ACAT1):c.91C>T (p.Arg31Trp)	ACAT1 (R31W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2997122	NM_000019.4(ACAT1):c.93G>A (p.Arg31=)	ACAT1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2115980	NM_000019.4(ACAT1):c.99T>C (p.Tyr33=)	ACAT1	Single nucleotide variant (5 prime UTR variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 666465	NM_000019.4(ACAT1):c.99T>A (p.Tyr33Ter)	ACAT1 (Y33*)	Single nucleotide variant (nonsense)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2117488	NM_000019.4(ACAT1):c.104C>G (p.Ser35Ter)	ACAT1 (S35*)	Single nucleotide variant (nonsense +2 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 1570408	NM_000019.4(ACAT1):c.105A>G (p.Ser35=)	ACAT1	Single nucleotide variant (synonymous variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 1672405	NM_000019.4(ACAT1):c.113C>T (p.Thr38Ile)	ACAT1 (T38I)	Single nucleotide variant (missense variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2704179	NM_000019.4(ACAT1):c.120+1G>A	ACAT1	Single nucleotide variant (splice donor variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 1509341	NM_000019.4(ACAT1):c.120+1G>C	ACAT1	Single nucleotide variant (splice donor variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 1483687	NM_000019.4(ACAT1):c.120+1G>T	ACAT1	Single nucleotide variant (splice donor variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2916513	NM_000019.4(ACAT1):c.120+17G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2792426	NM_000019.4(ACAT1):c.120+20C>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2731346	NM_000019.4(ACAT1):c.120+20C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 666536	NM_000019.4(ACAT1):c.120+374_731-68delinsTAA	ACAT1, LOC129390351	Indel (splice acceptor variant +2 more)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2911628	NM_000019.4(ACAT1):c.121-19C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 666467	NM_000019.4(ACAT1):c.121-13T>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GPathogenic
Select item 2903977	NM_000019.4(ACAT1):c.121-12G>A	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 2110287	NM_000019.4(ACAT1):c.121-8C>T	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign
Select item 666466	NM_000019.4(ACAT1):c.121-3C>G	ACAT1	Single nucleotide variant (intron variant)	Deficiency of acetyl-CoA acetyltransferase	GConflicting classifications of pathogenicity
Select item 1503885	NM_000019.4(ACAT1):c.121-2A>G	ACAT1	Single nucleotide variant (splice acceptor variant +1 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely pathogenic
Select item 2873568	NM_000019.4(ACAT1):c.126G>A (p.Val42=)	ACAT1	Single nucleotide variant (synonymous variant +3 more)	Deficiency of acetyl-CoA acetyltransferase	GLikely benign

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