ABCD3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LOC129930966, LOC129930967 +548 more	Copy number gain	See cases	GPathogenic
Select item 156742	NC_000001.11:g.94401500_94669347dup	LOC129930978, ABCD3 +5 more	Duplication	Normal pregnancy	Gnot provided
Select item 2981452	NM_002858.4(ABCD3):c.8C>T (p.Ala3Val)	ABCD3 (A3V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1589644	NM_002858.4(ABCD3):c.9C>T (p.Ala3=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993533	NM_002858.4(ABCD3):c.34A>T (p.Asn12Tyr)	ABCD3 (N12Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2734153	NM_002858.4(ABCD3):c.42G>T (p.Ser14=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2556031	NM_002858.4(ABCD3):c.43C>G (p.Leu15Val)	ABCD3 (L15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 13703	NM_002858.4(ABCD3):c.50G>A (p.Gly17Asp)	ABCD3 (G17D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2725974	NM_002858.4(ABCD3):c.54C>T (p.Ala18=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896024	NM_002858.4(ABCD3):c.67C>G (p.Leu23Val)	ABCD3 (L23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963735	NM_002858.4(ABCD3):c.80A>T (p.His27Leu)	ABCD3 (H27L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174818	NM_002858.4(ABCD3):c.93C>T (p.Arg31=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3129193	NM_002858.4(ABCD3):c.97C>T (p.Leu33Phe)	ABCD3 (L33F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1917195	NM_002858.4(ABCD3):c.99C>T (p.Leu33=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012883	NM_002858.4(ABCD3):c.110+20T>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719552	NM_002858.4(ABCD3):c.111-18T>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1533653	NM_002858.4(ABCD3):c.111-15T>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2960154	NM_002858.4(ABCD3):c.111-12T>A	ABCD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2039463	NM_002858.4(ABCD3):c.122G>A (p.Gly41Glu)	ABCD3 (G41E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2974430	NM_002858.4(ABCD3):c.133T>G (p.Leu45Val)	ABCD3 (L45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902291	NM_002858.4(ABCD3):c.147+19T>A	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910050	NM_002858.4(ABCD3):c.148-8dup	ABCD3	Duplication (intron variant)	not provided	GBenign
Select item 2005954	NM_002858.4(ABCD3):c.148-7A>T	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 718421	NM_002858.4(ABCD3):c.155G>T (p.Gly52Val)	ABCD3 (G52V)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 5 +1 more	GBenign
Select item 2218038	NM_002858.4(ABCD3):c.157A>G (p.Lys53Glu)	ABCD3 (K53E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296480	NM_002858.4(ABCD3):c.161A>G (p.Lys54Arg)	ABCD3 (K54R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 258821	NM_002858.4(ABCD3):c.162G>A (p.Lys54=)	ABCD3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1655726	NM_002858.4(ABCD3):c.168A>C (p.Arg56=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398735	NM_002858.4(ABCD3):c.182A>T (p.Lys61Met)	ABCD3 (K61M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858818	NM_002858.4(ABCD3):c.192C>T (p.Phe64=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792189	NM_002858.4(ABCD3):c.197G>C (p.Arg66Thr)	ABCD3 (R66T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803081	NM_002858.4(ABCD3):c.225C>T (p.Val75=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471339	NM_002858.4(ABCD3):c.246+5G>A	ABCD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1600520	NM_002858.4(ABCD3):c.246+11T>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2955386	NM_002858.4(ABCD3):c.247-20C>G	ABCD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3129173	NM_002858.4(ABCD3):c.262C>T (p.Leu88Phe)	ABCD3 (L88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2790600	NM_002858.4(ABCD3):c.264T>C (p.Leu88=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860735	NM_002858.4(ABCD3):c.293A>G (p.Tyr98Cys)	ABCD3 (Y98C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764412	NM_002858.4(ABCD3):c.329T>G (p.Ile110Ser)	ABCD3 (I110S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 59364	GRCh38/hg38 1p21.3(chr1:94471888-94588229)x1	ABCD3, F3 +2 more	Copy number loss	See cases	GUncertain significance
Select item 1904731	NM_002858.4(ABCD3):c.336-11G>A	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 806171	NM_002858.4(ABCD3):c.349C>T (p.Arg117Cys)	ABCD3 (R117C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2301055	NM_002858.4(ABCD3):c.391G>A (p.Ala131Thr)	ABCD3 (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2817082	NM_002858.4(ABCD3):c.406-19A>G	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893610	NM_002858.4(ABCD3):c.438G>T (p.Gly146=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2422114	NM_002858.4(ABCD3):c.470G>A (p.Arg157Lys)	ABCD3 (R157K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1659791	NM_002858.4(ABCD3):c.495G>A (p.Glu165=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866262	NM_002858.4(ABCD3):c.555A>G (p.Pro185=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2832619	NM_002858.4(ABCD3):c.564G>C (p.Leu188=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884539	NM_002858.4(ABCD3):c.603C>T (p.Val201=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1639252	NM_002858.4(ABCD3):c.628-9_628-6del	ABCD3	Microsatellite (intron variant)	ABCD3-related disorder +1 more	GLikely benign
Select item 2737621	NM_002858.4(ABCD3):c.672A>C (p.Ala224=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2632061	NM_002858.4(ABCD3):c.673A>G (p.Ile225Val)	ABCD3 (I225V)	Single nucleotide variant (missense variant)	ABCD3-related disorder +1 more	GUncertain significance
Select item 1373233	NM_002858.4(ABCD3):c.684+3G>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2897945	NM_002858.4(ABCD3):c.684+9G>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921016	NM_002858.4(ABCD3):c.684+228G>A	ABCD3 (W235*)	Single nucleotide variant (nonsense +1 more)	Congenital bile acid synthesis defect 5	GLikely benign
Select item 788078	NM_002858.4(ABCD3):c.685-9T>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2200646	NM_002858.4(ABCD3):c.692C>T (p.Ala231Val)	ABCD3 (A231V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1360259	NM_002858.4(ABCD3):c.704C>T (p.Ala235Val)	ABCD3 (A235V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3129180	NM_002858.4(ABCD3):c.762G>A (p.Met254Ile)	ABCD3 (M254I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 761564	NM_002858.4(ABCD3):c.801T>C (p.Tyr267=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955235	NM_002858.4(ABCD3):c.811C>T (p.Arg271Trp)	ABCD3 (R271W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902326	NM_002858.4(ABCD3):c.827+12T>A	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655196	NM_002858.4(ABCD3):c.849T>C (p.Asn283=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3129185	NM_002858.4(ABCD3):c.878A>G (p.His293Arg)	ABCD3 (H293R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081361	NM_002858.4(ABCD3):c.890G>A (p.Arg297Gln)	ABCD3 (R297Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699746	NM_002858.4(ABCD3):c.907C>A (p.Leu303Ile)	ABCD3 (L303I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2187484	NM_002858.4(ABCD3):c.937A>G (p.Met313Val)	ABCD3 (M313V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601379	NM_002858.4(ABCD3):c.957T>C (p.Ile319=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1989394	NM_002858.4(ABCD3):c.1004G>A (p.Arg335His)	ABCD3 (R335H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041741	NM_002858.4(ABCD3):c.1028C>A (p.Pro343His)	ABCD3 (P343H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699968	NM_002858.4(ABCD3):c.1030C>T (p.Arg344Ter)	ABCD3 (R344*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3129140	NM_002858.4(ABCD3):c.1031G>A (p.Arg344Gln)	ABCD3 (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129145	NM_002858.4(ABCD3):c.1049A>T (p.His350Leu)	ABCD3 (H350L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638932	NM_002858.4(ABCD3):c.1053G>A (p.Ser351=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608958	NM_002858.4(ABCD3):c.1065+7T>G	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902280	NM_002858.4(ABCD3):c.1065+12A>G	ABCD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1551680	NM_002858.4(ABCD3):c.1066-20A>T	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2237720	NM_002858.4(ABCD3):c.1099A>C (p.Met367Leu)	ABCD3 (M367L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559032	NM_002858.4(ABCD3):c.1158-23G>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2883619	NM_002858.4(ABCD3):c.1222C>T (p.Arg408Cys)	ABCD3 (R408C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754256	NM_002858.4(ABCD3):c.1241A>G (p.Gln414Arg)	ABCD3 (Q414R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478841	NM_002858.4(ABCD3):c.1248G>A (p.Lys416=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1665068	NM_002858.4(ABCD3):c.1249+7_1249+8del	ABCD3	Microsatellite (intron variant)	not provided	GBenign
Select item 2982723	NM_002858.4(ABCD3):c.1252A>G (p.Ile418Val)	ABCD3 (I418V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2317864	NM_002858.4(ABCD3):c.1255G>A (p.Glu419Lys)	ABCD3 (E419K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1525051	NM_002858.4(ABCD3):c.1268T>A (p.Val423Asp)	ABCD3 (V423D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2514650	NM_002858.4(ABCD3):c.1274C>T (p.Pro425Leu)	ABCD3 (P425L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2025795	NM_002858.4(ABCD3):c.1276T>G (p.Leu426Val)	ABCD3 (L426V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2146020	NM_002858.4(ABCD3):c.1279A>T (p.Ile427Leu)	ABCD3 (I427L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411067	NM_002858.4(ABCD3):c.1322+4C>T	ABCD3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1632899	NM_002858.4(ABCD3):c.1323-17A>T	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3129163	NM_002858.4(ABCD3):c.1346C>T (p.Thr449Met)	ABCD3 (T449M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129165	NM_002858.4(ABCD3):c.1348C>A (p.Pro450Thr)	ABCD3 (P450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559033	NM_002858.4(ABCD3):c.1356A>G (p.Gly452=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1974104	NM_002858.4(ABCD3):c.1369C>T (p.Arg457Ter)	ABCD3 (R457*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 732841	NM_002858.4(ABCD3):c.1374C>T (p.Asp458=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2183711	NM_002858.4(ABCD3):c.1380T>C (p.Asn460=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 806172	NM_002858.4(ABCD3):c.1382T>A (p.Phe461Tyr)	ABCD3 (F461Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052632	NM_002858.4(ABCD3):c.1387-4T>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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