ACOT12[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 3192575	NM_001131035.2(ZCCHC9):c.496G>C (p.Glu166Gln)	ACOT12, ZCCHC9 (E166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361079	NM_001131035.2(ZCCHC9):c.527C>T (p.Pro176Leu)	ACOT12, ZCCHC9 (P176L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334171	NM_001131035.2(ZCCHC9):c.551C>T (p.Ala184Val)	ACOT12, ZCCHC9 (A184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619896	NM_001131035.2(ZCCHC9):c.612A>T (p.Lys204Asn)	ACOT12, ZCCHC9 (K204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229935	NM_001131035.2(ZCCHC9):c.634G>A (p.Gly212Ser)	ACOT12, ZCCHC9 (G212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619897	NM_001131035.2(ZCCHC9):c.652T>C (p.Ser218Pro)	ACOT12, ZCCHC9 (S218P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137521	NM_130767.3(ACOT12):c.1661C>T (p.Thr554Ile)	ACOT12 (T554I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466689	NM_130767.3(ACOT12):c.1595T>C (p.Ile532Thr)	ACOT12 (I532T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137517	NM_130767.3(ACOT12):c.1531A>T (p.Asn511Tyr)	ACOT12 (N511Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620089	NM_130767.3(ACOT12):c.1468A>G (p.Ile490Val)	ACOT12 (I490V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327407	NM_130767.3(ACOT12):c.1456A>C (p.Ile486Leu)	ACOT12 (I486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213020	NM_130767.3(ACOT12):c.1456A>G (p.Ile486Val)	ACOT12 (I486V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3261902	NM_130767.3(ACOT12):c.1453T>C (p.Tyr485His)	ACOT12 (Y485H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273992	NM_130767.3(ACOT12):c.1448C>T (p.Pro483Leu)	ACOT12 (P483L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473578	NM_130767.3(ACOT12):c.1385A>G (p.Lys462Arg)	ACOT12 (K462R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483119	NM_130767.3(ACOT12):c.1376A>G (p.Lys459Arg)	ACOT12 (K459R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2324768	NM_130767.3(ACOT12):c.1370G>A (p.Arg457Gln)	ACOT12 (R457Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279682	NM_130767.3(ACOT12):c.1345A>G (p.Lys449Glu)	ACOT12 (K449E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346958	NM_130767.3(ACOT12):c.1339A>C (p.Lys447Gln)	ACOT12 (K447Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137485	NM_130767.3(ACOT12):c.1324A>G (p.Ile442Val)	ACOT12 (I442V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386562	NM_130767.3(ACOT12):c.1312A>G (p.Ile438Val)	ACOT12 (I438V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408890	NM_130767.3(ACOT12):c.1297G>A (p.Asp433Asn)	ACOT12 (D433N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285847	NM_130767.3(ACOT12):c.1213C>T (p.Arg405Cys)	ACOT12 (R405C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279476	NM_130767.3(ACOT12):c.1117A>G (p.Thr373Ala)	ACOT12 (T373A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3261880	NM_130767.3(ACOT12):c.1072G>T (p.Ala358Ser)	ACOT12 (A358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137603	NM_130767.3(ACOT12):c.944G>A (p.Arg315Gln)	ACOT12 (R315Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137599	NM_130767.3(ACOT12):c.938G>T (p.Arg313Leu)	ACOT12 (R313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358748	NM_130767.3(ACOT12):c.836G>A (p.Arg279His)	ACOT12 (R279H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137589	NM_130767.3(ACOT12):c.830G>A (p.Arg277Gln)	ACOT12 (R277Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526603	NM_130767.3(ACOT12):c.830G>C (p.Arg277Pro)	ACOT12 (R277P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350620	NM_130767.3(ACOT12):c.823G>A (p.Glu275Lys)	ACOT12 (E275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231516	NM_130767.3(ACOT12):c.821C>G (p.Ala274Gly)	ACOT12 (A274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397346	NM_130767.3(ACOT12):c.779A>C (p.Glu260Ala)	ACOT12 (E260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487853	NM_130767.3(ACOT12):c.713C>T (p.Pro238Leu)	ACOT12 (P238L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287810	NM_130767.3(ACOT12):c.710G>A (p.Gly237Glu)	ACOT12 (G237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518131	NM_130767.3(ACOT12):c.706C>T (p.Arg236Trp)	ACOT12 (R236W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619275	NM_130767.3(ACOT12):c.692A>T (p.Asp231Val)	ACOT12 (D231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475993	NM_130767.3(ACOT12):c.638C>A (p.Ala213Asp)	ACOT12 (A213D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137560	NM_130767.3(ACOT12):c.628G>C (p.Glu210Gln)	ACOT12 (E210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371216	NM_130767.3(ACOT12):c.575C>A (p.Pro192His)	ACOT12 (P192H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412065	NM_130767.3(ACOT12):c.568C>G (p.Leu190Val)	ACOT12 (L190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611810	NM_130767.3(ACOT12):c.550C>G (p.Gln184Glu)	ACOT12 (Q184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137546	NM_130767.3(ACOT12):c.485G>A (p.Ser162Asn)	ACOT12 (S162N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655572	NM_130767.3(ACOT12):c.477G>A (p.Lys159=)	ACOT12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2467405	NM_130767.3(ACOT12):c.428G>A (p.Arg143Lys)	ACOT12 (R143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261869	NM_130767.3(ACOT12):c.403G>A (p.Val135Met)	ACOT12 (V135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530390	NM_130767.3(ACOT12):c.343C>T (p.Pro115Ser)	ACOT12 (P115S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137539	NM_130767.3(ACOT12):c.337G>C (p.Ala113Pro)	ACOT12 (A113P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137535	NM_130767.3(ACOT12):c.308T>G (p.Leu103Arg)	ACOT12 (L103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474246	NM_130767.3(ACOT12):c.280C>A (p.Gln94Lys)	ACOT12 (Q94K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137529	NM_130767.3(ACOT12):c.254T>C (p.Met85Thr)	ACOT12 (M85T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137525	NM_130767.3(ACOT12):c.236G>A (p.Arg79Lys)	ACOT12 (R79K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261891	NM_130767.3(ACOT12):c.149C>T (p.Ser50Phe)	ACOT12 (S50F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291152	NM_130767.3(ACOT12):c.136C>T (p.His46Tyr)	ACOT12 (H46Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814693	GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3	ACOT12, ADGRV1 +98 more	Copy number gain	not provided	GPathogenic
Select item 684903	GRCh37/hg19 5q14.1(chr5:79664621-80767791)x3	RASGRF2, SSBP2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563081	GRCh37/hg19 5q14.1(chr5:79625636-80884586)x3	FAM151B, MSH3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 395343	GRCh37/hg19 5q14.1(chr5:79678575-80868550)x3	ACOT12, ANKRD34B +9 more	Copy number gain	See cases	GUncertain significance

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Items: 63