ABCA5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 155046	GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1	LOC129390924, LOC129390925 +59 more	Copy number loss	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 2478559	NM_172232.4(ABCA5):c.4901G>C (p.Arg1634Pro)	ABCA5 (R1634P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298096	NM_172232.4(ABCA5):c.4901G>A (p.Arg1634Gln)	ABCA5 (R1634Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370988	NM_172232.4(ABCA5):c.4783A>G (p.Ile1595Val)	ABCA5 (I1595V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105712	NM_172232.4(ABCA5):c.4777T>A (p.Phe1593Ile)	ABCA5 (F1593I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730720	NM_172232.4(ABCA5):c.4765+3A>G	ABCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2510006	NM_172232.4(ABCA5):c.4760A>G (p.Glu1587Gly)	ABCA5 (E1587G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105656	NM_172232.4(ABCA5):c.4675C>T (p.Arg1559Cys)	ABCA5 (R1559C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356042	NM_172232.4(ABCA5):c.4663C>T (p.Pro1555Ser)	ABCA5 (P1555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345631	NM_172232.4(ABCA5):c.4633C>T (p.Arg1545Cys)	ABCA5 (R1545C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495195	NM_172232.4(ABCA5):c.4589T>C (p.Leu1530Ser)	ABCA5 (L1530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309332	NM_172232.4(ABCA5):c.4589T>G (p.Leu1530Trp)	ABCA5 (L1530W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105484	NM_172232.4(ABCA5):c.4571T>C (p.Phe1524Ser)	ABCA5 (F1524S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725552	NM_172232.4(ABCA5):c.4535+7G>A	ABCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2302813	NM_172232.4(ABCA5):c.4530G>C (p.Gln1510His)	ABCA5 (Q1510H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105416	NM_172232.4(ABCA5):c.4529A>G (p.Gln1510Arg)	ABCA5 (Q1510R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042879	NM_172232.4(ABCA5):c.4521G>A (p.Val1507=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GLikely benign
Select item 3105391	NM_172232.4(ABCA5):c.4432G>T (p.Ala1478Ser)	ABCA5 (A1478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037281	NM_172232.4(ABCA5):c.4415+3G>A	ABCA5	Single nucleotide variant (intron variant)	ABCA5-related disorder	GLikely benign
Select item 2321047	NM_172232.4(ABCA5):c.4381A>G (p.Thr1461Ala)	ABCA5 (T1461A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221671	NM_172232.4(ABCA5):c.4339A>G (p.Met1447Val)	ABCA5 (M1447V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052699	NM_172232.4(ABCA5):c.4332T>G (p.Ala1444=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GLikely benign
Select item 139604	NM_172232.4(ABCA5):c.4320+1G>C	ABCA5	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 3065938	NM_172232.4(ABCA5):c.4315C>T (p.Arg1439Ter)	ABCA5 (R1439*)	Single nucleotide variant (nonsense)	Gingival fibromatosis-hypertrichosis syndrome	GLikely pathogenic
Select item 2594187	NM_172232.4(ABCA5):c.4258C>T (p.Leu1420Phe)	ABCA5 (L1420F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461861	NM_172232.4(ABCA5):c.4234G>C (p.Val1412Leu)	ABCA5 (V1412L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216403	NM_172232.4(ABCA5):c.4204A>C (p.Lys1402Gln)	ABCA5 (K1402Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388983	NM_172232.4(ABCA5):c.4007G>A (p.Gly1336Asp)	ABCA5 (G1336D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708560	NM_172232.4(ABCA5):c.3966T>C (p.Cys1322=)	ABCA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3105114	NM_172232.4(ABCA5):c.3965G>T (p.Cys1322Phe)	ABCA5 (C1322F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730721	NM_172232.4(ABCA5):c.3943G>A (p.Ala1315Thr)	ABCA5 (A1315T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3060710	NM_172232.4(ABCA5):c.3859-4T>C	ABCA5	Single nucleotide variant (intron variant)	ABCA5-related disorder	GBenign
Select item 3105085	NM_172232.4(ABCA5):c.3778G>T (p.Asp1260Tyr)	ABCA5 (D1260Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730722	NM_172232.4(ABCA5):c.3778G>A (p.Asp1260Asn)	ABCA5 (D1260N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3041283	NM_172232.4(ABCA5):c.3743C>T (p.Thr1248Met)	ABCA5 (T1248M)	Single nucleotide variant (missense variant)	ABCA5-related disorder	GLikely benign
Select item 2603194	NM_172232.4(ABCA5):c.3707C>T (p.Ser1236Leu)	ABCA5 (S1236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056659	NM_172232.4(ABCA5):c.3549G>A (p.Leu1183=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GBenign
Select item 730723	NM_172232.4(ABCA5):c.3517A>G (p.Ile1173Val)	ABCA5 (I1173V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2466424	NM_172232.4(ABCA5):c.3500A>G (p.His1167Arg)	ABCA5 (H1167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775112	NM_172232.4(ABCA5):c.3475G>A (p.Gly1159Arg)	ABCA5 (G1159R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3282866	NM_172232.4(ABCA5):c.3434C>T (p.Ala1145Val)	ABCA5 (A1145V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677998	NM_172232.4(ABCA5):c.3429+39G>C	ABCA5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3283718	NM_172232.4(ABCA5):c.3398C>T (p.Thr1133Ile)	ABCA5 (T1133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057014	NM_172232.4(ABCA5):c.3393A>G (p.Leu1131=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GBenign
Select item 3105000	NM_172232.4(ABCA5):c.3375C>A (p.Phe1125Leu)	ABCA5 (F1125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219561	NM_172232.4(ABCA5):c.3355T>C (p.Phe1119Leu)	ABCA5 (F1119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244505	NM_172232.4(ABCA5):c.3316G>A (p.Val1106Ile)	ABCA5 (V1106I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104918	NM_172232.4(ABCA5):c.3287A>G (p.Tyr1096Cys)	ABCA5 (Y1096C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315002	NM_172232.4(ABCA5):c.3278A>G (p.Tyr1093Cys)	ABCA5 (Y1093C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343568	NM_172232.4(ABCA5):c.3274C>A (p.His1092Asn)	ABCA5 (H1092N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104831	NM_172232.4(ABCA5):c.3272T>C (p.Phe1091Ser)	ABCA5 (F1091S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745241	NM_172232.4(ABCA5):c.3267G>A (p.Leu1089=)	ABCA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3060219	NM_172232.4(ABCA5):c.3265T>C (p.Leu1089=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GBenign
Select item 3104806	NM_172232.4(ABCA5):c.3251T>A (p.Met1084Lys)	ABCA5 (M1084K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332736	NM_172232.4(ABCA5):c.3170T>G (p.Leu1057Arg)	ABCA5 (L1057R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042353	NM_172232.4(ABCA5):c.3144+4dup	ABCA5	Duplication (intron variant)	not provided	GLikely benign
Select item 2332052	NM_172232.4(ABCA5):c.3123G>A (p.Met1041Ile)	ABCA5 (M1041I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263179	NM_172232.4(ABCA5):c.3110C>T (p.Pro1037Leu)	ABCA5 (P1037L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384431	NM_172232.4(ABCA5):c.3091A>G (p.Ile1031Val)	ABCA5 (I1031V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239331	NM_172232.4(ABCA5):c.3053A>C (p.Lys1018Thr)	ABCA5 (K1018T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366874	NM_172232.4(ABCA5):c.3020C>T (p.Pro1007Leu)	ABCA5 (P1007L)	Single nucleotide variant (missense variant)	Gingival fibromatosis-hypertrichosis syndrome	GUncertain significance
Select item 3104602	NM_172232.4(ABCA5):c.3002T>C (p.Ile1001Thr)	ABCA5 (I1001T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282958	NM_172232.4(ABCA5):c.2992A>G (p.Thr998Ala)	ABCA5 (T998A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735846	NM_172232.4(ABCA5):c.2956A>G (p.Ile986Val)	ABCA5 (I986V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3283348	NM_172232.4(ABCA5):c.2926A>G (p.Met976Val)	ABCA5 (M976V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283243	NM_172232.4(ABCA5):c.2848G>A (p.Val950Met)	ABCA5 (V950M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381860	NM_172232.4(ABCA5):c.2819C>T (p.Thr940Met)	ABCA5 (T940M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533078	NM_172232.4(ABCA5):c.2802C>G (p.Ser934Arg)	ABCA5 (S934R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529620	NM_172232.4(ABCA5):c.2782C>G (p.Leu928Val)	ABCA5 (L928V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307402	NM_172232.4(ABCA5):c.2740A>G (p.Ser914Gly)	ABCA5 (S914G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726893	NM_172232.4(ABCA5):c.2655T>C (p.Ser885=)	ABCA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 771499	NM_172232.4(ABCA5):c.2612T>C (p.Ile871Thr)	ABCA5 (I871T)	Single nucleotide variant (missense variant)	See cases +1 more	GBenign
Select item 770273	NM_172232.4(ABCA5):c.2595-8C>T	ABCA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3045703	NM_172232.4(ABCA5):c.2595-9del	ABCA5	Deletion (intron variant)	ABCA5-related disorder	GLikely benign
Select item 2445995	NM_172232.4(ABCA5):c.2569C>T (p.Arg857Cys)	ABCA5 (R857C)	Single nucleotide variant (missense variant)	Gingival fibromatosis-hypertrichosis syndrome	GLikely pathogenic
Select item 3104406	NM_172232.4(ABCA5):c.2542G>A (p.Ala848Thr)	ABCA5 (A848T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714861	NM_172232.4(ABCA5):c.2537C>A (p.Thr846Lys)	ABCA5 (T846K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2318868	NM_172232.4(ABCA5):c.2519G>C (p.Trp840Ser)	ABCA5 (W840S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512970	NM_172232.4(ABCA5):c.2509A>G (p.Met837Val)	ABCA5 (M837V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709493	NM_172232.4(ABCA5):c.2449G>T (p.Asp817Tyr)	ABCA5 (D817Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3104324	NM_172232.4(ABCA5):c.2384A>T (p.Asp795Val)	ABCA5 (D795V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049666	NM_172232.4(ABCA5):c.2337G>A (p.Thr779=)	ABCA5	Single nucleotide variant (synonymous variant)	ABCA5-related disorder	GLikely benign
Select item 777717	NM_172232.4(ABCA5):c.2302A>G (p.Asn768Asp)	ABCA5 (N768D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2254051	NM_172232.4(ABCA5):c.2237A>G (p.Tyr746Cys)	ABCA5 (Y746C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1690962	NM_172232.4(ABCA5):c.2167_2168del (p.Leu723fs)	ABCA5 (L723fs)	Microsatellite (frameshift variant)	See cases	GLikely pathogenic
Select item 3283644	NM_172232.4(ABCA5):c.2134A>G (p.Met712Val)	ABCA5 (M712V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104245	NM_172232.4(ABCA5):c.2125C>T (p.Arg709Cys)	ABCA5 (R709C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797479	NM_172232.4(ABCA5):c.2073G>A (p.Leu691=)	ABCA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3104230	NM_172232.4(ABCA5):c.2045G>A (p.Arg682Lys)	ABCA5 (R682K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381003	NM_172232.4(ABCA5):c.2038G>T (p.Ala680Ser)	ABCA5 (A680S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050327	NM_172232.4(ABCA5):c.1951C>T (p.His651Tyr)	ABCA5 (H651Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538793	NM_172232.4(ABCA5):c.1946C>T (p.Ser649Phe)	ABCA5 (S649F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544251	NM_172232.4(ABCA5):c.1936G>T (p.Asp646Tyr)	ABCA5 (D646Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104074	NM_172232.4(ABCA5):c.1921C>G (p.Pro641Ala)	ABCA5 (P641A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604638	NM_172232.4(ABCA5):c.1824A>T (p.Lys608Asn)	ABCA5 (K608N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282439	NM_172232.4(ABCA5):c.1823A>G (p.Lys608Arg)	ABCA5 (K608R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283056	NM_172232.4(ABCA5):c.1787A>G (p.Gln596Arg)	ABCA5 (Q596R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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