ClinVar for Gene (Select 10349) - ClinVar

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

Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063496	GRCh37/hg19 17q24.2-24.3(chr17:66271342-67205346)x3	ABCA10, ABCA6 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2648167	NM_001377321.1(ABCA10):c.3987C>T (p.Leu1329=)	ABCA10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617965	NM_001377321.1(ABCA10):c.3232A>T (p.Ile1078Phe)	ABCA10 (I1078F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605287	NM_001377321.1(ABCA10):c.4238T>C (p.Met1413Thr)	ABCA10 (M1413T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598492	NM_001377321.1(ABCA10):c.621T>A (p.His207Gln)	ABCA10 (H207Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597056	NM_001377321.1(ABCA10):c.2305C>T (p.Arg769Cys)	ABCA10 (R769C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589789	NM_001377321.1(ABCA10):c.629T>C (p.Phe210Ser)	ABCA10 (F210S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589503	NM_001377321.1(ABCA10):c.1141G>T (p.Val381Leu)	ABCA10 (V381L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589247	NM_001377321.1(ABCA10):c.1603A>C (p.Lys535Gln)	ABCA10 (K535Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539448	NM_001377321.1(ABCA10):c.1730G>T (p.Arg577Leu)	ABCA10 (R577L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533751	NM_001377321.1(ABCA10):c.1106A>G (p.Asn369Ser)	ABCA10 (N369S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531270	NM_001377321.1(ABCA10):c.2983A>G (p.Ile995Val)	ABCA10 (I995V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495560	NM_001377321.1(ABCA10):c.730G>T (p.Ala244Ser)	ABCA10 (A244S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492729	NM_001377321.1(ABCA10):c.1663A>G (p.Thr555Ala)	ABCA10 (T555A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484886	NM_001377321.1(ABCA10):c.4429G>T (p.Val1477Leu)	ABCA10 (V1477L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480978	NM_001377321.1(ABCA10):c.3604C>T (p.His1202Tyr)	ABCA10 (H1202Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480428	NM_001377321.1(ABCA10):c.1195G>A (p.Glu399Lys)	ABCA10 (E399K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479698	NM_001377321.1(ABCA10):c.3511G>A (p.Asp1171Asn)	ABCA10 (D1171N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475497	NM_001377321.1(ABCA10):c.913G>A (p.Asp305Asn)	ABCA10 (D305N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473091	NM_001377321.1(ABCA10):c.2246C>T (p.Ala749Val)	ABCA10 (A749V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467281	NM_001377321.1(ABCA10):c.4258T>C (p.Cys1420Arg)	ABCA10 (C1420R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458129	NM_001377321.1(ABCA10):c.811G>C (p.Val271Leu)	ABCA10 (V271L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412447	NM_001377321.1(ABCA10):c.110G>C (p.Gly37Ala)	ABCA10 (G37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406067	NM_001377321.1(ABCA10):c.2950G>C (p.Asp984His)	ABCA10 (D984H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404749	NM_001377321.1(ABCA10):c.140G>A (p.Arg47His)	ABCA10 (R47H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398306	NM_001377321.1(ABCA10):c.4042C>G (p.Leu1348Val)	ABCA10 (L1348V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392931	NM_001377321.1(ABCA10):c.673A>C (p.Ile225Leu)	ABCA10 (I225L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387654	NM_001377321.1(ABCA10):c.3083T>C (p.Ile1028Thr)	ABCA10 (I1028T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383990	NM_001377321.1(ABCA10):c.380C>G (p.Ser127Cys)	ABCA10 (S127C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383989	NM_001377321.1(ABCA10):c.2348T>C (p.Ile783Thr)	ABCA10 (I783T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379419	NM_001377321.1(ABCA10):c.4156G>T (p.Val1386Phe)	ABCA10 (V1386F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2376226	NM_001377321.1(ABCA10):c.1148C>T (p.Pro383Leu)	ABCA10 (P383L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372723	NM_001377321.1(ABCA10):c.573G>A (p.Met191Ile)	ABCA10 (M191I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368894	NM_001377321.1(ABCA10):c.811G>T (p.Val271Leu)	ABCA10 (V271L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366930	NM_001377321.1(ABCA10):c.716T>C (p.Met239Thr)	ABCA10 (M239T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366035	NM_001377321.1(ABCA10):c.1738C>T (p.Leu580Phe)	ABCA10 (L580F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358563	NM_001377321.1(ABCA10):c.442A>T (p.Ile148Leu)	ABCA10 (I148L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355906	NM_001377321.1(ABCA10):c.2831A>G (p.Asn944Ser)	ABCA10 (N944S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341096	NM_001377321.1(ABCA10):c.3502G>A (p.Glu1168Lys)	ABCA10 (E1168K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335419	NM_001377321.1(ABCA10):c.2213C>A (p.Ser738Tyr)	ABCA10 (S738Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331584	NM_001377321.1(ABCA10):c.3214A>G (p.Asn1072Asp)	ABCA10 (N1072D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331073	NM_001377321.1(ABCA10):c.2144G>T (p.Gly715Val)	ABCA10 (G715V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328188	NM_001377321.1(ABCA10):c.370C>T (p.Pro124Ser)	ABCA10 (P124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322203	NM_001377321.1(ABCA10):c.3920C>T (p.Ala1307Val)	ABCA10 (A1307V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311486	NM_001377321.1(ABCA10):c.1319T>C (p.Leu440Pro)	ABCA10 (L440P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310161	NM_001377321.1(ABCA10):c.2458A>G (p.Lys820Glu)	ABCA10 (K820E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292756	NM_001377321.1(ABCA10):c.4369C>T (p.Leu1457Phe)	ABCA10 (L1457F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288898	NM_001377321.1(ABCA10):c.958A>G (p.Thr320Ala)	ABCA10 (T320A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2288856	NM_001377321.1(ABCA10):c.1387G>A (p.Asp463Asn)	ABCA10 (D463N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279858	NM_001377321.1(ABCA10):c.1864C>G (p.His622Asp)	ABCA10 (H622D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275031	NM_001377321.1(ABCA10):c.3863A>G (p.Gln1288Arg)	ABCA10 (Q1288R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273343	NM_001377321.1(ABCA10):c.2003A>T (p.Lys668Ile)	ABCA10 (K668I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267044	NM_001377321.1(ABCA10):c.4003G>C (p.Ala1335Pro)	ABCA10 (A1335P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257241	NM_001377321.1(ABCA10):c.1879A>G (p.Arg627Gly)	ABCA10 (R627G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255194	NM_001377321.1(ABCA10):c.2405A>G (p.His802Arg)	ABCA10 (H802R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251564	NM_001377321.1(ABCA10):c.1456G>A (p.Val486Met)	ABCA10 (V486M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243192	NM_001377321.1(ABCA10):c.4340T>G (p.Val1447Gly)	ABCA10 (V1447G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234829	NM_001377321.1(ABCA10):c.4376C>T (p.Pro1459Leu)	ABCA10 (P1459L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227507	NM_001377321.1(ABCA10):c.794C>T (p.Pro265Leu)	ABCA10 (P265L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219385	NM_001377321.1(ABCA10):c.2926T>C (p.Tyr976His)	ABCA10 (Y976H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218131	NM_001377321.1(ABCA10):c.691A>G (p.Met231Val)	ABCA10 (M231V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214980	NM_001377321.1(ABCA10):c.3843G>C (p.Lys1281Asn)	ABCA10 (K1281N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210842	NM_001377321.1(ABCA10):c.1933C>T (p.Pro645Ser)	ABCA10 (P645S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207655	NM_001377321.1(ABCA10):c.4117G>A (p.Glu1373Lys)	ABCA10 (E1373K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205828	NM_001377321.1(ABCA10):c.1585A>G (p.Ser529Gly)	ABCA10 (S529G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 980727	GRCh37/hg19 17q24.2-24.3(chr17:66531148-67241132)x3	ABCA10, ABCA5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 777215	NM_001377321.1(ABCA10):c.3695-6_3696dup	ABCA10	Duplication (splice acceptor variant)	not provided	GBenign
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564466	GRCh37/hg19 17q24.3(chr17:67131934-67321879)x3	ABCA10, ABCA5 +1 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 442607	GRCh37/hg19 17q24.2-24.3(chr17:66673047-67239694)x3	ABCA10, ABCA6 +2 more	Copy number gain	See cases	GLikely benign
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 402329	NM_001377321.1(ABCA10):c.4515_4516del (p.Gln1506fs)	ABCA10 (Q1506fs)	Microsatellite (frameshift variant)	not specified	GBenign
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393910	GRCh37/hg19 17q24.2-24.3(chr17:65343022-69344022)x3	ABCA8, PSMD12 +18 more	Copy number gain	See cases	GUncertain significance
Select item 155046	GRCh38/hg38 17q24.2-24.3(chr17:68420514-71351235)x1	ABCA10, ABCA5 +59 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +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 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	LOC130061805, LOC130061806 +1033 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 82