8309[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 more	Copy number loss	See cases	GPathogenic
Select item 150755	GRCh38/hg38 3p14.3-14.1(chr3:57430538-64884522)x1	ABHD6, ACOX2 +155 more	Copy number loss	See cases	GPathogenic
Select item 153923	GRCh38/hg38 3p14.3-14.2(chr3:58498793-60217173)x3	ACOX2, CFAP20DC +23 more	Copy number gain	See cases	GUncertain significance
Select item 3052899	NM_003500.4(ACOX2):c.*10C>T	ACOX2	Single nucleotide variant (3 prime UTR variant)	ACOX2-related disorder	GLikely benign
Select item 2492655	NM_003500.4(ACOX2):c.1999G>A (p.Glu667Lys)	ACOX2 (E667K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046987	NM_003500.4(ACOX2):c.1995C>T (p.Ala665=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 2294437	NM_003500.4(ACOX2):c.1994C>A (p.Ala665Asp)	ACOX2 (A665D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738066	NM_003500.4(ACOX2):c.1992T>G (p.Pro664=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919915	NM_003500.4(ACOX2):c.1989C>T (p.Asn663=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184494	NC_000003.12:g.58505286_58505288del	ACOX2	Deletion	not provided	GUncertain significance
Select item 1530365	NM_003500.4(ACOX2):c.1984-9T>C	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988980	NM_003500.4(ACOX2):c.1984-18G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3350756	NM_003500.4(ACOX2):c.1983+7G>A	ACOX2	Single nucleotide variant (intron variant)	ACOX2-related disorder	GLikely benign
Select item 721583	NM_003500.4(ACOX2):c.1983+7G>C	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3262182	NM_003500.4(ACOX2):c.1933G>A (p.Val645Ile)	ACOX2 (V645I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3036929	NM_003500.4(ACOX2):c.1932C>T (p.Asn644=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 2314353	NM_003500.4(ACOX2):c.1927G>A (p.Gly643Arg)	ACOX2 (G643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2173068	NM_003500.4(ACOX2):c.1923T>C (p.Tyr641=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233504	NM_003500.4(ACOX2):c.1902A>C (p.Leu634Phe)	ACOX2 (L634F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614710	NM_003500.4(ACOX2):c.1895A>G (p.Gln632Arg)	ACOX2 (Q632R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138246	NM_003500.4(ACOX2):c.1852A>G (p.Lys618Glu)	ACOX2 (K618E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1622187	NM_003500.4(ACOX2):c.1851-4C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3023041	NM_003500.4(ACOX2):c.1851-16_1851-15del	ACOX2	Deletion (intron variant)	not provided	GLikely benign
Select item 2960503	NM_003500.4(ACOX2):c.1850+13_1850+14del	ACOX2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2983270	NM_003500.4(ACOX2):c.1850G>A (p.Arg617Gln)	ACOX2 (R617Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351321	NM_003500.4(ACOX2):c.1849C>T (p.Arg617Trp)	ACOX2 (R617W)	Single nucleotide variant (missense variant)	ACOX2-related disorder	GUncertain significance
Select item 2193745	NM_003500.4(ACOX2):c.1840C>T (p.Arg614Cys)	ACOX2 (R614C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2967800	NM_003500.4(ACOX2):c.1821A>G (p.Thr607=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541935	NM_003500.4(ACOX2):c.1807G>A (p.Asp603Asn)	ACOX2 (D603N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2042166	NM_003500.4(ACOX2):c.1784C>G (p.Ala595Gly)	ACOX2 (A595G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2414037	NM_003500.4(ACOX2):c.1782C>T (p.Asp594=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1571094	NM_003500.4(ACOX2):c.1764G>A (p.Ser588=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3138239	NM_003500.4(ACOX2):c.1761C>G (p.Asn587Lys)	ACOX2 (N587K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2184286	NM_003500.4(ACOX2):c.1721G>A (p.Arg574His)	ACOX2 (R574H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438827	NM_003500.4(ACOX2):c.1720C>T (p.Arg574Cys)	ACOX2 (R574C)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 6	GUncertain significance
Select item 2991457	NM_003500.4(ACOX2):c.1719G>C (p.Lys573Asn)	ACOX2 (K573N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191149	NM_003500.4(ACOX2):c.1700C>T (p.Ala567Val)	ACOX2 (A567V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335532	NM_003500.4(ACOX2):c.1693G>C (p.Glu565Gln)	ACOX2 (E565Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719021	NM_003500.4(ACOX2):c.1652C>T (p.Thr551Ile)	ACOX2 (T551I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030785	NM_003500.4(ACOX2):c.1647T>C (p.Tyr549=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 1486084	NM_003500.4(ACOX2):c.1633-2A>G	ACOX2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3045326	NM_003500.4(ACOX2):c.1633-10_1633-9del	ACOX2	Microsatellite (intron variant)	ACOX2-related disorder	GLikely benign
Select item 1933495	NM_003500.4(ACOX2):c.1632+16C>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912195	NM_003500.4(ACOX2):c.1632+15G>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2051138	NM_003500.4(ACOX2):c.1632+7G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2067064	NM_003500.4(ACOX2):c.1632+6C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3041048	NM_003500.4(ACOX2):c.1602G>A (p.Gln534=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 3046995	NM_003500.4(ACOX2):c.1587C>T (p.His529=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 1424168	NM_003500.4(ACOX2):c.1582C>G (p.Gln528Glu)	ACOX2 (Q528E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2518558	NM_003500.4(ACOX2):c.1565C>T (p.Thr522Met)	ACOX2 (T522M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2458245	NM_003500.4(ACOX2):c.1537G>A (p.Asp513Asn)	ACOX2 (D513N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3347455	NM_003500.4(ACOX2):c.1536G>T (p.Lys512Asn)	ACOX2 (K512N)	Single nucleotide variant (missense variant)	ACOX2-related disorder	GUncertain significance
Select item 1412804	NM_003500.4(ACOX2):c.1528C>T (p.Leu510Phe)	ACOX2 (L510F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011469	NM_003500.4(ACOX2):c.1526G>T (p.Arg509Met)	ACOX2 (R509M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3138227	NM_003500.4(ACOX2):c.1487C>T (p.Pro496Leu)	ACOX2 (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769606	NM_003500.4(ACOX2):c.1485C>T (p.Cys495=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1486521	NM_003500.4(ACOX2):c.1474G>A (p.Asp492Asn)	ACOX2 (D492N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901479	NM_003500.4(ACOX2):c.1473C>T (p.Ala491=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636916	NM_003500.4(ACOX2):c.1456_1457dup (p.Ala487fs)	ACOX2 (A487fs)	Duplication (frameshift variant)	ACOX2-related disorder	GUncertain significance
Select item 2958739	NM_003500.4(ACOX2):c.1435G>A (p.Ala479Thr)	ACOX2 (A479T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3060829	NM_003500.4(ACOX2):c.1425A>G (p.Ala475=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 2969599	NM_003500.4(ACOX2):c.1422C>T (p.Val474=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3357188	NM_003500.4(ACOX2):c.1394C>T (p.Thr465Met)	ACOX2 (T465M)	Single nucleotide variant (missense variant)	ACOX2-related disorder	GUncertain significance
Select item 3262192	NM_003500.4(ACOX2):c.1362C>G (p.Ser454Arg)	ACOX2 (S454R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2844749	NM_003500.4(ACOX2):c.1346+10A>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756751	NM_003500.4(ACOX2):c.1346+8C>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1648098	NM_003500.4(ACOX2):c.1346+7T>C	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605349	NM_003500.4(ACOX2):c.1341G>A (p.Val447=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2912420	NM_003500.4(ACOX2):c.1329C>T (p.Leu443=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426898	NM_003500.4(ACOX2):c.1327C>T (p.Leu443Phe)	ACOX2 (L443F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093275	NM_003500.4(ACOX2):c.1308C>T (p.Tyr436=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600142	NM_003500.4(ACOX2):c.1302T>C (p.Cys434=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1625636	NM_003500.4(ACOX2):c.1293G>A (p.Ser431=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2374126	NM_003500.4(ACOX2):c.1292C>T (p.Ser431Leu)	ACOX2 (S431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2899641	NM_003500.4(ACOX2):c.1290G>A (p.Leu430=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3262188	NM_003500.4(ACOX2):c.1286A>G (p.Lys429Arg)	ACOX2 (K429R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1600136	NM_003500.4(ACOX2):c.1254A>G (p.Ser418=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3138211	NM_003500.4(ACOX2):c.1246G>T (p.Gly416Cys)	ACOX2 (G416C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3138207	NM_003500.4(ACOX2):c.1245T>A (p.His415Gln)	ACOX2 (H415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1431599	NM_003500.4(ACOX2):c.1226G>A (p.Arg409His)	ACOX2 (R409H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905988	NM_003500.4(ACOX2):c.1225C>T (p.Arg409Cys)	ACOX2 (R409C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2713753	NM_003500.4(ACOX2):c.1216G>C (p.Glu406Gln)	ACOX2 (E406Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1990891	NM_003500.4(ACOX2):c.1209G>A (p.Gln403=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 736750	NM_003500.4(ACOX2):c.1186A>G (p.Met396Val)	ACOX2 (M396V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3345921	NM_003500.4(ACOX2):c.1184C>T (p.Ala395Val)	ACOX2 (A395V)	Single nucleotide variant (missense variant)	ACOX2-related disorder	GUncertain significance
Select item 2816459	NM_003500.4(ACOX2):c.1171A>T (p.Thr391Ser)	ACOX2 (T391S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571341	NM_003500.4(ACOX2):c.1164A>G (p.Ala388=)	ACOX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3057287	NM_003500.4(ACOX2):c.1161C>T (p.His387=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 3046996	NM_003500.4(ACOX2):c.1156-3C>T	ACOX2	Single nucleotide variant (intron variant)	ACOX2-related disorder	GLikely benign
Select item 1416538	NM_003500.4(ACOX2):c.1156-3C>G	ACOX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3002642	NM_003500.4(ACOX2):c.1156-11T>C	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609929	NM_003500.4(ACOX2):c.1156-14C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1598608	NM_003500.4(ACOX2):c.1156-16del	ACOX2	Deletion (intron variant)	not provided	GBenign
Select item 1899677	NM_003500.4(ACOX2):c.1156-17C>T	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957895	NM_003500.4(ACOX2):c.1155+16G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986289	NM_003500.4(ACOX2):c.1155+14G>A	ACOX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983199	NM_003500.4(ACOX2):c.1150C>T (p.Pro384Ser)	ACOX2 (P384S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356353	NM_003500.4(ACOX2):c.1113C>T (p.Ser371=)	ACOX2	Single nucleotide variant (synonymous variant)	ACOX2-related disorder	GLikely benign
Select item 2194390	NM_003500.4(ACOX2):c.1090C>G (p.Leu364Val)	ACOX2 (L364V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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