"GeneDx"[submitter] AND "ABCD4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57808	GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1	ABCD4, ACYP1 +227 more	Copy number loss	See cases	GPathogenic
Select item 1262596	NM_005050.4(ABCD4):c.*262T>G	ABCD4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1292532	NM_005050.4(ABCD4):c.*188C>T	ABCD4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1174281	NM_005050.4(ABCD4):c.*120A>G	ABCD4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1292531	NM_005050.4(ABCD4):c.*57G>C	ABCD4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1183112	NM_005050.4(ABCD4):c.*52G>A	ABCD4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1292530	NM_005050.4(ABCD4):c.*23G>A	ABCD4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 388278	NM_005050.4(ABCD4):c.*5C>T	ABCD4	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 512297	NM_005050.4(ABCD4):c.1753-4G>A	ABCD4	Single nucleotide variant (3 prime UTR variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GLikely benign
Select item 383627	NM_005050.4(ABCD4):c.1753-18G>A	ABCD4	Single nucleotide variant (intron variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1188884	NM_005050.4(ABCD4):c.1753-46A>G	ABCD4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 1232910	NM_005050.4(ABCD4):c.1752+41C>T	ABCD4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 517093	NM_005050.4(ABCD4):c.1752+5C>T	ABCD4 (P544L +4 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ +2 more	GBenign
Select item 376915	NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln)	ABCD4 (R579Q +7 more)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 384578	NM_005050.4(ABCD4):c.1705C>T (p.Leu569=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 382994	NM_005050.4(ABCD4):c.1704G>A (p.Gln568=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 1197229	NM_005050.4(ABCD4):c.1688A>G (p.Tyr563Cys)	ABCD4 (Y300C +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1305197	NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly)	ABCD4 (S297G +7 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 1231141	NM_005050.4(ABCD4):c.1637-48G>A	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219308	NM_005050.4(ABCD4):c.1637-146C>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277740	NM_005050.4(ABCD4):c.1637-187T>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218702	NM_005050.4(ABCD4):c.1637-297A>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245033	NM_005050.4(ABCD4):c.1636+273_1636+274del	ABCD4	Microsatellite (intron variant)	not provided	GBenign
Select item 1266133	NM_005050.4(ABCD4):c.1636+256_1636+258del	ABCD4	Deletion (intron variant)	not provided	GBenign
Select item 1252529	NM_005050.4(ABCD4):c.1636+257_1636+258del	ABCD4	Deletion (intron variant)	not provided	GBenign
Select item 1181427	NM_005050.4(ABCD4):c.1636+258del	ABCD4	Deletion (intron variant)	not provided	GBenign
Select item 1259280	NM_005050.4(ABCD4):c.1636+234CTTTT[3]	ABCD4	Microsatellite (intron variant)	not provided	GBenign
Select item 1249394	NM_005050.4(ABCD4):c.1636+174del	ABCD4	Deletion (intron variant)	not provided	GBenign
Select item 380506	NM_005050.4(ABCD4):c.1636+10C>T	ABCD4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1418289	NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)	ABCD4 (Q375L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 652295	NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)	ABCD4 (R282Q)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GUncertain significance
Select item 1306509	NM_005050.4(ABCD4):c.1577C>T (p.Pro526Leu)	ABCD4 (P263L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 380505	NM_005050.4(ABCD4):c.1560-12A>C	ABCD4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1326120	NM_005050.4(ABCD4):c.1560-138A>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257260	NM_005050.4(ABCD4):c.1559+153T>C	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509827	NM_005050.4(ABCD4):c.1559+20G>A	ABCD4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 380504	NM_005050.4(ABCD4):c.1533C>T (p.Gly511=)	ABCD4 (A267V)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 1306294	NM_005050.4(ABCD4):c.1529A>G (p.Glu510Gly)	ABCD4 (E247G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2162579	NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)	ABCD4 (A420E +9 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 506732	NM_005050.4(ABCD4):c.1518G>A (p.Val506=)	ABCD4 (W262*)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 391025	NM_005050.4(ABCD4):c.1507-18C>T	ABCD4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 424218	NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	ABCD4 (D489N +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +2 more	GConflicting classifications of pathogenicity
Select item 1223066	NM_005050.4(ABCD4):c.1457-164A>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263169	NM_005050.4(ABCD4):c.1457-173C>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179737	NM_005050.4(ABCD4):c.1457-208T>C	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280960	NM_005050.4(ABCD4):c.1457-209T>A	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224626	NM_005050.4(ABCD4):c.1456+317dup	ABCD4	Duplication (intron variant)	not provided	GBenign
Select item 1222894	NM_005050.4(ABCD4):c.1456+302A>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256949	NM_005050.4(ABCD4):c.1456+67_1456+68del	ABCD4	Microsatellite (intron variant)	not provided	GBenign
Select item 1258047	NM_005050.4(ABCD4):c.1420-26T>C	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219931	NM_005050.4(ABCD4):c.1420-81_1420-75dup	ABCD4	Duplication (intron variant)	not provided	GLikely benign
Select item 1215140	NM_005050.4(ABCD4):c.1420-194A>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286722	NM_005050.4(ABCD4):c.1419+191T>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279826	NM_005050.4(ABCD4):c.1419+191T>C	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321505	NM_005050.4(ABCD4):c.1419+183A>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193632	NM_005050.4(ABCD4):c.1419+127G>A	ABCD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1321768	NM_005050.4(ABCD4):c.1419+58G>C	ABCD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253622	NM_005050.4(ABCD4):c.1419+21T>C	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381876	NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)	ABCD4 (R471W +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GConflicting classifications of pathogenicity
Select item 392574	NM_005050.4(ABCD4):c.1327+8C>T	ABCD4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 380503	NM_005050.4(ABCD4):c.1302G>A (p.Leu434=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 391206	NM_005050.4(ABCD4):c.1230G>A (p.Lys410=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1286358	NM_005050.4(ABCD4):c.1119-90C>T	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229657	NM_005050.4(ABCD4):c.1119-163T>C	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241497	NM_005050.4(ABCD4):c.1119-172G>C	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259890	NM_005050.4(ABCD4):c.1119-205dup	ABCD4	Duplication (intron variant)	not provided	GBenign
Select item 1245829	NM_005050.4(ABCD4):c.1119-205_1119-204dup	ABCD4	Duplication (intron variant)	not provided	GBenign
Select item 1208620	NM_005050.4(ABCD4):c.1119-205_1119-203dup	ABCD4	Duplication (intron variant)	not provided	GLikely benign
Select item 1253378	NM_005050.4(ABCD4):c.1119-185del	ABCD4	Deletion (intron variant)	not provided	GBenign
Select item 1289113	NM_005050.4(ABCD4):c.1118+212C>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238184	NM_005050.4(ABCD4):c.1118+196dup	ABCD4	Duplication (intron variant)	not provided	GBenign
Select item 512105	NM_005050.4(ABCD4):c.1118+9C>T	ABCD4	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 259619	NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys)	ABCD4 (E368K +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 390396	NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys)	ABCD4 (G365C +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 681957	NM_005050.4(ABCD4):c.1083C>T (p.Cys361=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GLikely benign
Select item 668490	NM_005050.4(ABCD4):c.1056G>A (p.Leu352=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GLikely benign
Select item 380512	NM_005050.4(ABCD4):c.1049C>G (p.Thr350Arg)	ABCD4 (T350R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 516779	NM_005050.4(ABCD4):c.1043G>A (p.Arg348Gln)	ABCD4 (R348Q +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 389017	NM_005050.4(ABCD4):c.1042C>T (p.Arg348Trp)	ABCD4 (R348W +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1245382	NM_005050.4(ABCD4):c.1029-43C>T	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291401	NM_005050.4(ABCD4):c.1028+79A>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225986	NM_005050.4(ABCD4):c.1028+52C>A	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380515	NM_005050.4(ABCD4):c.1028+6G>T	ABCD4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 382060	NM_005050.4(ABCD4):c.1023G>A (p.Thr341=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +2 more	GBenign
Select item 506713	NM_005050.4(ABCD4):c.996G>A (p.Thr332=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 259622	NM_005050.4(ABCD4):c.981C>A (p.Leu327=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 513968	NM_005050.4(ABCD4):c.936+11C>G	ABCD4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3372865	NM_005050.4(ABCD4):c.936+5G>A	ABCD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 259621	NM_005050.4(ABCD4):c.910G>A (p.Ala304Thr)	ABCD4 (A304T +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +2 more	GBenign
Select item 383018	NM_005050.4(ABCD4):c.867C>T (p.Ile289=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GLikely benign
Select item 966702	NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)	ABCD4 (V128I +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 380502	NM_005050.4(ABCD4):c.858C>T (p.Tyr286=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 380501	NM_005050.4(ABCD4):c.815-13G>C	ABCD4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1230806	NM_005050.4(ABCD4):c.815-83C>T	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235784	NM_005050.4(ABCD4):c.814+135G>A	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261255	NM_005050.4(ABCD4):c.814+125A>G	ABCD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387746	NM_005050.4(ABCD4):c.756G>A (p.Arg252=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 386273	NM_005050.4(ABCD4):c.752G>A (p.Arg251His)	ABCD4 (R251H +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 382479	NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)	ABCD4 (R251C +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1215580	NM_005050.4(ABCD4):c.720-60G>A	ABCD4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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