ClinVar for Gene (Select 5825) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 141

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307333	NM_002858.4(ABCD3):c.703G>T (p.Ala235Ser)	ABCD3 (A235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307239	NM_002858.4(ABCD3):c.388A>T (p.Ile130Phe)	ABCD3 (I130F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307151	NM_002858.4(ABCD3):c.271G>A (p.Val91Ile)	ABCD3 (V91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3129185	NM_002858.4(ABCD3):c.878A>G (p.His293Arg)	ABCD3 (H293R)	Single nucleotide variant (missense variant)	not specified	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 3129173	NM_002858.4(ABCD3):c.262C>T (p.Leu88Phe)	ABCD3 (L88F)	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 3129163	NM_002858.4(ABCD3):c.1346C>T (p.Thr449Met)	ABCD3 (T449M)	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 3129140	NM_002858.4(ABCD3):c.1031G>A (p.Arg344Gln)	ABCD3 (R344Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063166	GRCh37/hg19 1p22.1-21.3(chr1:94304238-97280301)x3	ABCA4, ABCD3 +11 more	Copy number gain	not specified	GUncertain significance
Select item 3049372	NM_002858.4(ABCD3):c.1903-4A>G	ABCD3	Single nucleotide variant (intron variant)	ABCD3-related disorder	GLikely benign
Select item 3023370	NM_002858.4(ABCD3):c.1845+20G>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020879	NM_002858.4(ABCD3):c.1531-13C>T	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020569	NM_002858.4(ABCD3):c.1741-15T>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3012883	NM_002858.4(ABCD3):c.110+20T>C	ABCD3	Single nucleotide variant (intron 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 2990183	NM_002858.4(ABCD3):c.1915A>G (p.Met639Val)	ABCD3 (M639V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2974430	NM_002858.4(ABCD3):c.133T>G (p.Leu45Val)	ABCD3 (L45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974199	NM_002858.4(ABCD3):c.1845+15G>A	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964672	NM_002858.4(ABCD3):c.1465-17T>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2960154	NM_002858.4(ABCD3):c.111-12T>A	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 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 2897945	NM_002858.4(ABCD3):c.684+9G>C	ABCD3	Single nucleotide variant (intron 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 2893610	NM_002858.4(ABCD3):c.438G>T (p.Gly146=)	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 2883619	NM_002858.4(ABCD3):c.1222C>T (p.Arg408Cys)	ABCD3 (R408C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866262	NM_002858.4(ABCD3):c.555A>G (p.Pro185=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2858818	NM_002858.4(ABCD3):c.192C>T (p.Phe64=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832619	NM_002858.4(ABCD3):c.564G>C (p.Leu188=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817082	NM_002858.4(ABCD3):c.406-19A>G	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807939	NM_002858.4(ABCD3):c.1656T>C (p.Gly552=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803081	NM_002858.4(ABCD3):c.225C>T (p.Val75=)	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 2790600	NM_002858.4(ABCD3):c.264T>C (p.Leu88=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784143	NM_002858.4(ABCD3):c.1691T>C (p.Val564Ala)	ABCD3 (V564A)	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 2763742	NM_002858.4(ABCD3):c.1845+8C>T	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2737621	NM_002858.4(ABCD3):c.672A>C (p.Ala224=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734153	NM_002858.4(ABCD3):c.42G>T (p.Ser14=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725974	NM_002858.4(ABCD3):c.54C>T (p.Ala18=)	ABCD3	Single nucleotide variant (synonymous 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 2715528	NM_002858.4(ABCD3):c.1845+9G>A	ABCD3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2699968	NM_002858.4(ABCD3):c.1030C>T (p.Arg344Ter)	ABCD3 (R344*)	Single nucleotide variant (nonsense)	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 2638932	NM_002858.4(ABCD3):c.1053G>A (p.Ser351=)	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 2556031	NM_002858.4(ABCD3):c.43C>G (p.Leu15Val)	ABCD3 (L15V)	Single nucleotide variant (missense variant)	not specified	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 2422114	NM_002858.4(ABCD3):c.470G>A (p.Arg157Lys)	ABCD3 (R157K)	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 2301055	NM_002858.4(ABCD3):c.391G>A (p.Ala131Thr)	ABCD3 (A131T)	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 2288796	NM_002858.4(ABCD3):c.1456C>T (p.Leu486Phe)	ABCD3 (L486F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2218038	NM_002858.4(ABCD3):c.157A>G (p.Lys53Glu)	ABCD3 (K53E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210926	NM_002858.4(ABCD3):c.1835A>G (p.His612Arg)	ABCD3 (H612R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2187484	NM_002858.4(ABCD3):c.937A>G (p.Met313Val)	ABCD3 (M313V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183711	NM_002858.4(ABCD3):c.1380T>C (p.Asn460=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174818	NM_002858.4(ABCD3):c.93C>T (p.Arg31=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167875	NM_002858.4(ABCD3):c.1708G>A (p.Val570Ile)	ABCD3 (V570I)	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 2081361	NM_002858.4(ABCD3):c.890G>A (p.Arg297Gln)	ABCD3 (R297Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2076504	NM_002858.4(ABCD3):c.1531-5G>A	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2066120	NM_002858.4(ABCD3):c.1894C>T (p.His632Tyr)	ABCD3 (H632Y)	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
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 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 2031408	NM_002858.4(ABCD3):c.1620+4A>G	ABCD3	Single nucleotide variant (intron variant)	not provided	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 2021301	NM_002858.4(ABCD3):c.1621-17A>T	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2008602	NM_002858.4(ABCD3):c.1654G>A (p.Gly552Ser)	ABCD3 (G552S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005954	NM_002858.4(ABCD3):c.148-7A>T	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1988792	NM_002858.4(ABCD3):c.1632A>G (p.Glu544=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974104	NM_002858.4(ABCD3):c.1369C>T (p.Arg457Ter)	ABCD3 (R457*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1917401	NM_002858.4(ABCD3):c.1465-7T>C	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917228	NM_002858.4(ABCD3):c.1486C>T (p.Arg496Cys)	ABCD3 (R496C)	Single nucleotide variant (missense variant)	not provided	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 1910050	NM_002858.4(ABCD3):c.148-8dup	ABCD3	Duplication (intron variant)	not provided	GBenign
Select item 1904731	NM_002858.4(ABCD3):c.336-11G>A	ABCD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904692	NM_002858.4(ABCD3):c.1627A>C (p.Lys543Gln)	ABCD3 (K543Q)	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 1902291	NM_002858.4(ABCD3):c.147+19T>A	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 1665068	NM_002858.4(ABCD3):c.1249+7_1249+8del	ABCD3	Microsatellite (intron variant)	not provided	GBenign
Select item 1659791	NM_002858.4(ABCD3):c.495G>A (p.Glu165=)	ABCD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655726	NM_002858.4(ABCD3):c.168A>C (p.Arg56=)	ABCD3	Single nucleotide variant (synonymous 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 1639252	NM_002858.4(ABCD3):c.628-9_628-6del	ABCD3	Microsatellite (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 2