ABCD4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	LOC130056152, LOC130056153 +503 more	Copy number loss	See cases	GPathogenic
Select item 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
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 (non-coding transcript 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 1554993	NM_005050.4(ABCD4):c.1818A>G (p.Glu606=)	ABCD4	Single nucleotide variant (3 prime UTR variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 3129248	NM_005050.4(ABCD4):c.1814T>C (p.Val605Ala)	ABCD4 (V518A +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2183879	NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)	ABCD4 (R339T +7 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 973444	NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)	ABCD4 (W460C +6 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 592037	NM_005050.4(ABCD4):c.1779_1780del (p.Cys593fs)	ABCD4 (C455fs +6 more)	Microsatellite (frameshift variant +2 more)	not specified	GUncertain significance
Select item 1379265	NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe)	ABCD4 (L329F +6 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2228673	NM_005050.4(ABCD4):c.1756C>G (p.His586Asp)	ABCD4 (H448D +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 1701235	NM_005050.4(ABCD4):c.1753-12G>A	ABCD4	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 383627	NM_005050.4(ABCD4):c.1753-18G>A	ABCD4	Single nucleotide variant (non-coding transcript variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GConflicting classifications of pathogenicity
Select item 1188884	NM_005050.4(ABCD4):c.1753-46A>G	ABCD4	Single nucleotide variant (intron 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 721931	NM_005050.4(ABCD4):c.1752+7G>A	ABCD4 (V324M +4 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 517093	NM_005050.4(ABCD4):c.1752+5C>T	ABCD4 (P544L +4 more)	Single nucleotide variant (missense variant +3 more)	ABCD4-related condition +2 more	GBenign
Select item 575290	NM_005050.4(ABCD4):c.1752+2T>C	ABCD4 (V543A +4 more)	Single nucleotide variant (missense variant +3 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 37320	NM_005050.4(ABCD4):c.1746_1747insCT (p.Glu583fs)	ABCD4 (E583fs +7 more)	Insertion (frameshift variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GPathogenic
Select item 2198918	NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)	ABCD4 (S318R +8 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2218540	NM_005050.4(ABCD4):c.1740G>C (p.Gln580His)	ABCD4 (Q421H +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 997911	NM_005050.4(ABCD4):c.1737G>A (p.Arg579=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
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 712890	NM_005050.4(ABCD4):c.1716G>A (p.Thr572=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 1961050	NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)	ABCD4 (T413M +8 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 591623	NM_005050.4(ABCD4):c.1713_1714del (p.Met571fs)	ABCD4 (M416fs +7 more)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 1584334	NM_005050.4(ABCD4):c.1710G>T (p.Gly570=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely 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 specified +1 more	GLikely benign
Select item 2145781	NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)	ABCD4 (G303S +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3009961	NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 956299	NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)	ABCD4 (R301H +7 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
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 1081239	NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)	ABCD4	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 657074	NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)	ABCD4 (S405R +7 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	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 2137605	NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)	ABCD4 (E556fs +7 more)	Microsatellite (frameshift variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GConflicting classifications of pathogenicity
Select item 2046362	NM_005050.4(ABCD4):c.1637-6C>G	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 724165	NM_005050.4(ABCD4):c.1637-10G>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 1606838	NM_005050.4(ABCD4):c.1637-15G>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
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 +1 more	GBenign
Select item 2289890	NM_005050.4(ABCD4):c.1633G>T (p.Ala545Ser)	ABCD4 (A282S +8 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 934796	NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)	ABCD4 (A282T +7 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2696653	NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)	ABCD4 (T300M)	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 872053	NM_005050.4(ABCD4):c.1621C>G (p.Gln541Glu)	ABCD4 (Q278E +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1367986	NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile)	ABCD4 (L378I +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2728334	NM_005050.4(ABCD4):c.1606C>T (p.Arg536Ter)	ABCD4 (R377* +8 more)	Single nucleotide variant (nonsense +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GPathogenic
Select item 1895475	NM_005050.4(ABCD4):c.1605C>A (p.Ala535=)	ABCD4 (P291H)	Single nucleotide variant (non-coding transcript variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2501162	NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)	ABCD4 (P289fs +8 more)	Microsatellite (frameshift variant +1 more)	Cobalamin C disease	GLikely pathogenic
Select item 1418289	NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)	ABCD4 (Q375L +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GUncertain significance
Select item 1720355	NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)	ABCD4 (C285* +9 more)	Single nucleotide variant (missense variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 583152	NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)	ABCD4 (Q530* +7 more)	Single nucleotide variant (nonsense +2 more)	Cobalamin C disease +1 more	GPathogenic/Likely pathogenic
Select item 652295	NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)	ABCD4 (R282Q)	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	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 +1 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)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GLikely benign
Select item 2066412	NM_005050.4(ABCD4):c.1559+16G>A	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 2721278	NM_005050.4(ABCD4):c.1559+13C>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 936016	NM_005050.4(ABCD4):c.1559+7_1559+11del	ABCD4	Deletion (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 755838	NM_005050.4(ABCD4):c.1545G>A (p.Gln515=)	ABCD4 (R271K)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 712537	NM_005050.4(ABCD4):c.1539C>T (p.Asp513=)	ABCD4 (T269I)	Single nucleotide variant (synonymous variant +2 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 380504	NM_005050.4(ABCD4):c.1533C>T (p.Gly511=)	ABCD4 (A267V)	Single nucleotide variant (synonymous variant +2 more)	not specified +1 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 2157474	NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)	ABCD4 (E247Q +9 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	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 1416657	NM_005050.4(ABCD4):c.1507-3_1507-2dup	ABCD4	Duplication (splice acceptor variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GUncertain significance
Select item 2747083	NM_005050.4(ABCD4):c.1507-4A>G	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 1598791	NM_005050.4(ABCD4):c.1507-11G>C	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ	GBenign
Select item 391025	NM_005050.4(ABCD4):c.1507-18C>T	ABCD4	Single nucleotide variant (intron variant)	Methylmalonic acidemia with homocystinuria, type cblJ +1 more	GLikely benign
Select item 3049688	NM_005050.4(ABCD4):c.1506+63A>G	ABCD4	Single nucleotide variant (intron variant)	ABCD4-related condition	GLikely benign
Select item 2644367	NM_005050.4(ABCD4):c.1503C>A (p.Gly501=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1335153	NM_005050.4(ABCD4):c.1503C>G (p.Gly501=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1083142	NM_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)	ABCD4 (A237T +7 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 755019	NM_005050.4(ABCD4):c.1495T>C (p.Leu499=)	ABCD4	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	GLikely benign
Select item 3129231	NM_005050.4(ABCD4):c.1478T>C (p.Ile493Thr)	ABCD4 (I334T +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1966035	NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)	ABCD4 (D351E +8 more)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia with homocystinuria, type cblJ	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)	not provided +2 more	GConflicting classifications of pathogenicity

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