OXCT2[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 2205786	NM_022120.2(OXCT2):c.1519C>T (p.Pro507Ser)	BMP8B, OXCT2 (P507S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207535	NM_022120.2(OXCT2):c.1510G>C (p.Ala504Pro)	BMP8B, OXCT2 (A504P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299560	NM_022120.2(OXCT2):c.1417T>C (p.Phe473Leu)	BMP8B, OXCT2 (F473L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303756	NM_022120.2(OXCT2):c.1399A>G (p.Ile467Val)	BMP8B, OXCT2 (I467V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557202	NM_022120.2(OXCT2):c.1392C>A (p.Asp464Glu)	BMP8B, OXCT2 (D464E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207534	NM_022120.2(OXCT2):c.1387G>C (p.Val463Leu)	BMP8B, OXCT2 (V463L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295579	NM_022120.2(OXCT2):c.1375G>A (p.Gly459Arg)	BMP8B, OXCT2 (G459R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272827	NM_022120.2(OXCT2):c.1337C>T (p.Thr446Ile)	BMP8B, OXCT2 (T446I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2320874	NM_022120.2(OXCT2):c.1259T>C (p.Met420Thr)	BMP8B, OXCT2 (M420T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252882	NM_022120.2(OXCT2):c.1207A>G (p.Lys403Glu)	BMP8B, OXCT2 (K403E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333413	NM_022120.2(OXCT2):c.1051C>G (p.Pro351Ala)	BMP8B, OXCT2 (P351A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303755	NM_022120.2(OXCT2):c.1007T>C (p.Val336Ala)	BMP8B, OXCT2 (V336A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207548	NM_022120.2(OXCT2):c.964A>G (p.Ile322Val)	BMP8B, OXCT2 (I322V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227348	NM_022120.2(OXCT2):c.937G>T (p.Gly313Cys)	BMP8B, OXCT2 (G313C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303757	NM_022120.2(OXCT2):c.906C>G (p.Ile302Met)	BMP8B, OXCT2 (I302M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207547	NM_022120.2(OXCT2):c.904A>G (p.Ile302Val)	BMP8B, OXCT2 (I302V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207544	NM_022120.2(OXCT2):c.833G>T (p.Arg278Leu)	BMP8B, OXCT2 (R278L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207542	NM_022120.2(OXCT2):c.794A>G (p.Tyr265Cys)	BMP8B, OXCT2 (Y265C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207541	NM_022120.2(OXCT2):c.670A>G (p.Arg224Gly)	BMP8B, OXCT2 (R224G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355744	NM_022120.2(OXCT2):c.667T>A (p.Phe223Ile)	BMP8B, OXCT2 (F223I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207540	NM_022120.2(OXCT2):c.661G>A (p.Val221Met)	BMP8B, OXCT2 (V221M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335459	NM_022120.2(OXCT2):c.635G>T (p.Gly212Val)	BMP8B, OXCT2 (G212V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638717	NM_001720.5(BMP8B):c.673+3659A>G	BMP8B, OXCT2 (I203V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3303758	NM_022120.2(OXCT2):c.560G>A (p.Arg187Gln)	BMP8B, OXCT2 (R187Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207539	NM_022120.2(OXCT2):c.544C>G (p.Leu182Val)	BMP8B, OXCT2 (L182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303753	NM_022120.2(OXCT2):c.517C>A (p.Arg173Ser)	BMP8B, OXCT2 (R173S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257390	NM_022120.2(OXCT2):c.470C>A (p.Thr157Asn)	BMP8B, OXCT2 (T157N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545266	NM_022120.2(OXCT2):c.434T>A (p.Ile145Asn)	BMP8B, OXCT2 (I145N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207538	NM_022120.2(OXCT2):c.250G>C (p.Asp84His)	BMP8B, OXCT2 (D84H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207537	NM_022120.2(OXCT2):c.241C>T (p.Arg81Cys)	BMP8B, OXCT2 (R81C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339691	NM_022120.2(OXCT2):c.194G>C (p.Gly65Ala)	BMP8B, OXCT2 (G65A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207536	NM_022120.2(OXCT2):c.172A>T (p.Thr58Ser)	BMP8B, OXCT2 (T58S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235712	NM_022120.2(OXCT2):c.137C>G (p.Pro46Arg)	BMP8B, OXCT2 (P46R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213000	NM_022120.2(OXCT2):c.113T>C (p.Leu38Pro)	BMP8B, OXCT2 (L38P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3207545	NM_022120.2(OXCT2):c.86C>A (p.Ala29Asp)	BMP8B, OXCT2 (A29D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207543	NM_022120.2(OXCT2):c.80G>T (p.Gly27Val)	BMP8B, OXCT2 (G27V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461908	NM_022120.2(OXCT2):c.68C>T (p.Ala23Val)	BMP8B, OXCT2 (A23V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303754	NM_022120.2(OXCT2):c.46C>T (p.Pro16Ser)	BMP8B, OXCT2 (P16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344615	NM_022120.2(OXCT2):c.34G>C (p.Gly12Arg)	BMP8B, OXCT2 (G12R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 988903	GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1	CAP1, GJA9 +18 more	Copy number loss	not provided	GUncertain significance
Select item 685011	GRCh37/hg19 1p34.3-34.2(chr1:40007947-40280565)x3	BMP8B, HEYL +6 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 585233	GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3	BMP8B, HEYL +4 more	Copy number gain	not provided	Gnot provided
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 52