ACOT8[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 2536271	NM_005469.4(ACOT8):c.814C>T (p.Leu272Phe)	ACOT8 (L272F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488619	NM_005469.4(ACOT8):c.800C>T (p.Ala267Val)	ACOT8 (A267V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396325	NM_005469.4(ACOT8):c.800C>G (p.Ala267Gly)	ACOT8 (A267G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603280	NM_005469.4(ACOT8):c.797G>A (p.Arg266Gln)	ACOT8 (R266Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374474	NM_005469.4(ACOT8):c.787G>A (p.Ala263Thr)	ACOT8 (A263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138045	NM_005469.4(ACOT8):c.688A>G (p.Ile230Val)	ACOT8 (I230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138044	NM_005469.4(ACOT8):c.638G>T (p.Gly213Val)	ACOT8 (G213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363931	NM_005469.4(ACOT8):c.574C>A (p.Pro192Thr)	ACOT8 (P192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614844	NM_005469.4(ACOT8):c.542A>G (p.Gln181Arg)	ACOT8 (Q181R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236969	NM_005469.4(ACOT8):c.530G>A (p.Arg177Gln)	ACOT8 (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496432	NM_005469.4(ACOT8):c.493C>T (p.Pro165Ser)	ACOT8 (P165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248108	NM_005469.4(ACOT8):c.474T>G (p.Ile158Met)	ACOT8 (I158M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559899	NM_005469.4(ACOT8):c.368T>C (p.Ile123Thr)	ACOT8 (I123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402470	NM_005469.4(ACOT8):c.305G>A (p.Arg102Gln)	ACOT8 (R102Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360029	NM_005469.4(ACOT8):c.299G>A (p.Arg100Gln)	ACOT8 (R100Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138013	NM_005469.4(ACOT8):c.280G>A (p.Val94Ile)	ACOT8 (V94I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515541	NM_005469.4(ACOT8):c.268C>T (p.Pro90Ser)	ACOT8 (P90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138002	NM_005469.4(ACOT8):c.229G>A (p.Val77Met)	ACOT8 (V77M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365101	NM_005469.4(ACOT8):c.223G>A (p.Val75Ile)	ACOT8 (V75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549331	NM_005469.4(ACOT8):c.173A>T (p.Gln58Leu)	ACOT8 (Q58L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461687	NM_005469.4(ACOT8):c.151G>A (p.Ala51Thr)	ACOT8 (A51T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360392	NM_005469.4(ACOT8):c.88A>T (p.Thr30Ser)	ACOT8 (T30S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3138038	NM_005469.4(ACOT8):c.56C>T (p.Pro19Leu)	ACOT8 (P19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425559	NC_000020.10:g.(?_42223339)_(44638757_?)del	GDAP1L1, GTSF1L +60 more	Deletion	Combined immunodeficiency due to STK4 deficiency	GPathogenic
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31