ABCA10[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 3080888	NM_001377321.1(ABCA10):c.4574T>G (p.Val1525Gly)	ABCA10 (V1525G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402329	NM_001377321.1(ABCA10):c.4515_4516del (p.Gln1506fs)	ABCA10 (Q1506fs)	Microsatellite (frameshift variant)	not specified	GBenign
Select item 3080855	NM_001377321.1(ABCA10):c.4473G>T (p.Glu1491Asp)	ABCA10 (E1491D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484886	NM_001377321.1(ABCA10):c.4429G>T (p.Val1477Leu)	ABCA10 (V1477L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080748	NM_001377321.1(ABCA10):c.4398A>T (p.Arg1466Ser)	ABCA10 (R1466S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080723	NM_001377321.1(ABCA10):c.4381G>A (p.Ala1461Thr)	ABCA10 (A1461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234829	NM_001377321.1(ABCA10):c.4376C>T (p.Pro1459Leu)	ABCA10 (P1459L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292756	NM_001377321.1(ABCA10):c.4369C>T (p.Leu1457Phe)	ABCA10 (L1457F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243192	NM_001377321.1(ABCA10):c.4340T>G (p.Val1447Gly)	ABCA10 (V1447G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467281	NM_001377321.1(ABCA10):c.4258T>C (p.Cys1420Arg)	ABCA10 (C1420R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605287	NM_001377321.1(ABCA10):c.4238T>C (p.Met1413Thr)	ABCA10 (M1413T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080532	NM_001377321.1(ABCA10):c.4156G>A (p.Val1386Ile)	ABCA10 (V1386I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379419	NM_001377321.1(ABCA10):c.4156G>T (p.Val1386Phe)	ABCA10 (V1386F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207655	NM_001377321.1(ABCA10):c.4117G>A (p.Glu1373Lys)	ABCA10 (E1373K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270826	NM_001377321.1(ABCA10):c.4097C>T (p.Pro1366Leu)	ABCA10 (P1366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398306	NM_001377321.1(ABCA10):c.4042C>G (p.Leu1348Val)	ABCA10 (L1348V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267044	NM_001377321.1(ABCA10):c.4003G>C (p.Ala1335Pro)	ABCA10 (A1335P)	Single nucleotide variant (missense variant)	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 2322203	NM_001377321.1(ABCA10):c.3920C>T (p.Ala1307Val)	ABCA10 (A1307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080400	NM_001377321.1(ABCA10):c.3880C>T (p.Pro1294Ser)	ABCA10 (P1294S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275031	NM_001377321.1(ABCA10):c.3863A>G (p.Gln1288Arg)	ABCA10 (Q1288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214980	NM_001377321.1(ABCA10):c.3843G>C (p.Lys1281Asn)	ABCA10 (K1281N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080279	NM_001377321.1(ABCA10):c.3793T>G (p.Leu1265Val)	ABCA10 (L1265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777215	NM_001377321.1(ABCA10):c.3695-6_3696dup	ABCA10	Duplication (splice acceptor variant)	not provided	GBenign
Select item 2480978	NM_001377321.1(ABCA10):c.3604C>T (p.His1202Tyr)	ABCA10 (H1202Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479698	NM_001377321.1(ABCA10):c.3511G>A (p.Asp1171Asn)	ABCA10 (D1171N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341096	NM_001377321.1(ABCA10):c.3502G>A (p.Glu1168Lys)	ABCA10 (E1168K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080114	NM_001377321.1(ABCA10):c.3491C>T (p.Pro1164Leu)	ABCA10 (P1164L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080083	NM_001377321.1(ABCA10):c.3436A>C (p.Asn1146His)	ABCA10 (N1146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271705	NM_001377321.1(ABCA10):c.3281A>G (p.Gln1094Arg)	ABCA10 (Q1094R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617965	NM_001377321.1(ABCA10):c.3232A>T (p.Ile1078Phe)	ABCA10 (I1078F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331584	NM_001377321.1(ABCA10):c.3214A>G (p.Asn1072Asp)	ABCA10 (N1072D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270930	NM_001377321.1(ABCA10):c.3116G>T (p.Arg1039Leu)	ABCA10 (R1039L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387654	NM_001377321.1(ABCA10):c.3083T>C (p.Ile1028Thr)	ABCA10 (I1028T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079968	NM_001377321.1(ABCA10):c.3061A>G (p.Ile1021Val)	ABCA10 (I1021V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271417	NM_001377321.1(ABCA10):c.3055T>G (p.Cys1019Gly)	ABCA10 (C1019G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271620	NM_001377321.1(ABCA10):c.3049G>T (p.Val1017Leu)	ABCA10 (V1017L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079939	NM_001377321.1(ABCA10):c.2987A>G (p.His996Arg)	ABCA10 (H996R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531270	NM_001377321.1(ABCA10):c.2983A>G (p.Ile995Val)	ABCA10 (I995V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271032	NM_001377321.1(ABCA10):c.2955T>G (p.Ile985Met)	ABCA10 (I985M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406067	NM_001377321.1(ABCA10):c.2950G>C (p.Asp984His)	ABCA10 (D984H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219385	NM_001377321.1(ABCA10):c.2926T>C (p.Tyr976His)	ABCA10 (Y976H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355906	NM_001377321.1(ABCA10):c.2831A>G (p.Asn944Ser)	ABCA10 (N944S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079797	NM_001377321.1(ABCA10):c.2776A>G (p.Ile926Val)	ABCA10 (I926V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079772	NM_001377321.1(ABCA10):c.2768G>A (p.Arg923His)	ABCA10 (R923H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3271894	NM_001377321.1(ABCA10):c.2695A>T (p.Ile899Phe)	ABCA10 (I899F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271802	NM_001377321.1(ABCA10):c.2686C>A (p.Leu896Ile)	ABCA10 (L896I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079744	NM_001377321.1(ABCA10):c.2651C>G (p.Ala884Gly)	ABCA10 (A884G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271316	NM_001377321.1(ABCA10):c.2515C>T (p.Leu839Phe)	ABCA10 (L839F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2310161	NM_001377321.1(ABCA10):c.2458A>G (p.Lys820Glu)	ABCA10 (K820E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255194	NM_001377321.1(ABCA10):c.2405A>G (p.His802Arg)	ABCA10 (H802R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079644	NM_001377321.1(ABCA10):c.2371G>A (p.Glu791Lys)	ABCA10 (E791K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383989	NM_001377321.1(ABCA10):c.2348T>C (p.Ile783Thr)	ABCA10 (I783T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597056	NM_001377321.1(ABCA10):c.2305C>T (p.Arg769Cys)	ABCA10 (R769C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079550	NM_001377321.1(ABCA10):c.2287C>G (p.Arg763Gly)	ABCA10 (R763G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271964	NM_001377321.1(ABCA10):c.2278G>A (p.Ala760Thr)	ABCA10 (A760T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473091	NM_001377321.1(ABCA10):c.2246C>T (p.Ala749Val)	ABCA10 (A749V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079485	NM_001377321.1(ABCA10):c.2215C>G (p.Leu739Val)	ABCA10 (L739V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335419	NM_001377321.1(ABCA10):c.2213C>A (p.Ser738Tyr)	ABCA10 (S738Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331073	NM_001377321.1(ABCA10):c.2144G>T (p.Gly715Val)	ABCA10 (G715V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079372	NM_001377321.1(ABCA10):c.2030A>T (p.Asp677Val)	ABCA10 (D677V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273343	NM_001377321.1(ABCA10):c.2003A>T (p.Lys668Ile)	ABCA10 (K668I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210842	NM_001377321.1(ABCA10):c.1933C>T (p.Pro645Ser)	ABCA10 (P645S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257241	NM_001377321.1(ABCA10):c.1879A>G (p.Arg627Gly)	ABCA10 (R627G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279858	NM_001377321.1(ABCA10):c.1864C>G (p.His622Asp)	ABCA10 (H622D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079248	NM_001377321.1(ABCA10):c.1781A>G (p.Asp594Gly)	ABCA10 (D594G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366035	NM_001377321.1(ABCA10):c.1738C>T (p.Leu580Phe)	ABCA10 (L580F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539448	NM_001377321.1(ABCA10):c.1730G>T (p.Arg577Leu)	ABCA10 (R577L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079147	NM_001377321.1(ABCA10):c.1670G>T (p.Gly557Val)	ABCA10 (G557V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492729	NM_001377321.1(ABCA10):c.1663A>G (p.Thr555Ala)	ABCA10 (T555A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589247	NM_001377321.1(ABCA10):c.1603A>C (p.Lys535Gln)	ABCA10 (K535Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205828	NM_001377321.1(ABCA10):c.1585A>G (p.Ser529Gly)	ABCA10 (S529G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251564	NM_001377321.1(ABCA10):c.1456G>A (p.Val486Met)	ABCA10 (V486M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271121	NM_001377321.1(ABCA10):c.1433A>G (p.Asn478Ser)	ABCA10 (N478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288856	NM_001377321.1(ABCA10):c.1387G>A (p.Asp463Asn)	ABCA10 (D463N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311486	NM_001377321.1(ABCA10):c.1319T>C (p.Leu440Pro)	ABCA10 (L440P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271516	NM_001377321.1(ABCA10):c.1240T>C (p.Phe414Leu)	ABCA10 (F414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271218	NM_001377321.1(ABCA10):c.1210A>C (p.Thr404Pro)	ABCA10 (T404P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2480428	NM_001377321.1(ABCA10):c.1195G>A (p.Glu399Lys)	ABCA10 (E399K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376226	NM_001377321.1(ABCA10):c.1148C>T (p.Pro383Leu)	ABCA10 (P383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589503	NM_001377321.1(ABCA10):c.1141G>T (p.Val381Leu)	ABCA10 (V381L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533751	NM_001377321.1(ABCA10):c.1106A>G (p.Asn369Ser)	ABCA10 (N369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3271977	NM_001377321.1(ABCA10):c.976T>C (p.Phe326Leu)	ABCA10 (F326L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2288898	NM_001377321.1(ABCA10):c.958A>G (p.Thr320Ala)	ABCA10 (T320A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2475497	NM_001377321.1(ABCA10):c.913G>A (p.Asp305Asn)	ABCA10 (D305N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458129	NM_001377321.1(ABCA10):c.811G>C (p.Val271Leu)	ABCA10 (V271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368894	NM_001377321.1(ABCA10):c.811G>T (p.Val271Leu)	ABCA10 (V271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227507	NM_001377321.1(ABCA10):c.794C>T (p.Pro265Leu)	ABCA10 (P265L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495560	NM_001377321.1(ABCA10):c.730G>T (p.Ala244Ser)	ABCA10 (A244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081164	NM_001377321.1(ABCA10):c.721G>A (p.Ala241Thr)	ABCA10 (A241T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366930	NM_001377321.1(ABCA10):c.716T>C (p.Met239Thr)	ABCA10 (M239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218131	NM_001377321.1(ABCA10):c.691A>G (p.Met231Val)	ABCA10 (M231V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392931	NM_001377321.1(ABCA10):c.673A>C (p.Ile225Leu)	ABCA10 (I225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589789	NM_001377321.1(ABCA10):c.629T>C (p.Phe210Ser)	ABCA10 (F210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598492	NM_001377321.1(ABCA10):c.621T>A (p.His207Gln)	ABCA10 (H207Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080980	NM_001377321.1(ABCA10):c.608C>T (p.Pro203Leu)	ABCA10 (P203L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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