Related gene-specific medical variations for Gene (Select 656) - ClinVar

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Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3236642	NM_001720.5(BMP8B):c.832G>A (p.Glu278Lys)	BMP8B (E278K)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 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 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 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 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 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 3134578	NM_001720.5(BMP8B):c.1180A>C (p.Met394Leu)	BMP8B, PPIE (M394L)	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 2638716	NM_001720.5(BMP8B):c.889G>A (p.Gly297Ser)	BMP8B, PPIE (G297S)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2638715	NM_001720.5(BMP8B):c.1095G>A (p.Ala365=)	BMP8B, PPIE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622244	NM_001720.5(BMP8B):c.1055C>A (p.Ser352Tyr)	BMP8B, PPIE (S352Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603342	NM_001720.5(BMP8B):c.1175G>T (p.Arg392Leu)	BMP8B, PPIE (R392L)	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 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 2490046	NM_001720.5(BMP8B):c.1075C>A (p.Pro359Thr)	BMP8B, PPIE (P359T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474070	NM_001720.5(BMP8B):c.1031C>T (p.Ala344Val)	BMP8B, PPIE (A344V)	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 2375346	NM_001720.5(BMP8B):c.896A>G (p.Gln299Arg)	BMP8B, PPIE (Q299R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2359152	NM_001720.5(BMP8B):c.1198G>A (p.Gly400Ser)	BMP8B, PPIE (G400S)	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 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 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 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 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 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 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 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 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 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 2252236	NM_001720.5(BMP8B):c.908G>A (p.Arg303Gln)	BMP8B, PPIE (R303Q)	Single nucleotide variant (3 prime UTR 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 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 2216896	NM_001720.5(BMP8B):c.1094C>T (p.Ala365Val)	BMP8B, PPIE (A365V)	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 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 780000	NM_001720.5(BMP8B):c.1059+10A>G	BMP8B, PPIE	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773107	NM_001720.5(BMP8B):c.1059+579A>G	BMP8B, PPIE	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 727024	NM_001720.5(BMP8B):c.978G>C (p.Ser326=)	BMP8B, PPIE	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 721373	NM_001720.5(BMP8B):c.978G>A (p.Ser326=)	BMP8B, PPIE	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign

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Links from Gene

Items: 55