ABCA6[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 2218475	NM_080284.3(ABCA6):c.4790A>G (p.Asn1597Ser)	ABCA6 (N1597S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344182	NM_080284.3(ABCA6):c.4742C>T (p.Thr1581Ile)	ABCA6 (T1581I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243710	NM_080284.3(ABCA6):c.4550C>A (p.Thr1517Lys)	ABCA6 (T1517K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549583	NM_080284.3(ABCA6):c.4510C>T (p.Leu1504Phe)	ABCA6 (L1504F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108340	NM_080284.3(ABCA6):c.4509A>T (p.Lys1503Asn)	ABCA6 (K1503N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284474	NM_080284.3(ABCA6):c.4470G>C (p.Arg1490Ser)	ABCA6 (R1490S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511075	NM_080284.3(ABCA6):c.4444C>T (p.Arg1482Cys)	ABCA6 (R1482C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648161	NM_080284.3(ABCA6):c.4428G>A (p.Ala1476=)	ABCA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463755	NM_080284.3(ABCA6):c.4375G>A (p.Val1459Ile)	ABCA6 (V1459I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108234	NM_080284.3(ABCA6):c.4322C>G (p.Thr1441Arg)	ABCA6 (T1441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227121	NM_080284.3(ABCA6):c.4209T>A (p.His1403Gln)	ABCA6 (H1403Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357157	NM_080284.3(ABCA6):c.4174G>A (p.Ala1392Thr)	ABCA6 (A1392T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531564	NM_080284.3(ABCA6):c.4166C>A (p.Ala1389Glu)	ABCA6 (A1389E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374946	NM_080284.3(ABCA6):c.4160C>T (p.Ala1387Val)	ABCA6 (A1387V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3284393	NM_080284.3(ABCA6):c.4088A>G (p.Asn1363Ser)	ABCA6 (N1363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216975	NM_080284.3(ABCA6):c.4084G>C (p.Glu1362Gln)	ABCA6 (E1362Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108050	NM_080284.3(ABCA6):c.4079C>A (p.Pro1360His)	ABCA6 (P1360H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454434	NM_080284.3(ABCA6):c.4078C>G (p.Pro1360Ala)	ABCA6 (P1360A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107992	NM_080284.3(ABCA6):c.4061G>T (p.Gly1354Val)	ABCA6 (G1354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245531	NM_080284.3(ABCA6):c.4024G>A (p.Gly1342Arg)	ABCA6 (G1342R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214691	NM_080284.3(ABCA6):c.3958G>A (p.Gly1320Arg)	ABCA6 (G1320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608723	NM_080284.3(ABCA6):c.3911G>T (p.Arg1304Ile)	ABCA6 (R1304I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648162	NM_080284.3(ABCA6):c.3909A>G (p.Ala1303=)	ABCA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2208626	NM_080284.3(ABCA6):c.3897G>T (p.Lys1299Asn)	ABCA6 (K1299N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107809	NM_080284.3(ABCA6):c.3889A>T (p.Arg1297Trp)	ABCA6 (R1297W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284789	NM_080284.3(ABCA6):c.3859G>A (p.Ala1287Thr)	ABCA6 (A1287T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323125	NM_080284.3(ABCA6):c.3759A>C (p.Glu1253Asp)	ABCA6 (E1253D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107738	NM_080284.3(ABCA6):c.3710A>G (p.Gln1237Arg)	ABCA6 (Q1237R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206852	NM_080284.3(ABCA6):c.3680G>A (p.Arg1227Gln)	ABCA6 (R1227Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279411	NM_080284.3(ABCA6):c.3649A>G (p.Met1217Val)	ABCA6 (M1217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298934	NM_080284.3(ABCA6):c.3527T>A (p.Val1176Glu)	ABCA6 (V1176E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107632	NM_080284.3(ABCA6):c.3477G>A (p.Met1159Ile)	ABCA6 (M1159I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235341	NM_080284.3(ABCA6):c.3470C>T (p.Thr1157Ile)	ABCA6 (T1157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107541	NM_080284.3(ABCA6):c.3418A>G (p.Ile1140Val)	ABCA6 (I1140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107504	NM_080284.3(ABCA6):c.3228G>A (p.Met1076Ile)	ABCA6 (M1076I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281752	NM_080284.3(ABCA6):c.3193G>A (p.Asp1065Asn)	ABCA6 (D1065N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364660	NM_080284.3(ABCA6):c.3176G>A (p.Cys1059Tyr)	ABCA6 (C1059Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648163	NM_080284.3(ABCA6):c.3141A>G (p.Leu1047=)	ABCA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2368727	NM_080284.3(ABCA6):c.3134C>T (p.Ser1045Phe)	ABCA6 (S1045F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107407	NM_080284.3(ABCA6):c.3106A>G (p.Ile1036Val)	ABCA6 (I1036V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297307	NM_080284.3(ABCA6):c.3034G>A (p.Gly1012Arg)	ABCA6 (G1012R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252267	NM_080284.3(ABCA6):c.3034G>T (p.Gly1012Trp)	ABCA6 (G1012W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107325	NM_080284.3(ABCA6):c.3000C>A (p.Ser1000Arg)	ABCA6 (S1000R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285044	NM_080284.3(ABCA6):c.2974A>C (p.Thr992Pro)	ABCA6 (T992P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284647	NM_080284.3(ABCA6):c.2800G>C (p.Asp934His)	ABCA6 (D934H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284300	NM_080284.3(ABCA6):c.2723T>C (p.Leu908Ser)	ABCA6 (L908S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284972	NM_080284.3(ABCA6):c.2639A>T (p.Asn880Ile)	ABCA6 (N880I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368877	NM_080284.3(ABCA6):c.2531G>A (p.Arg844His)	ABCA6 (R844H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648164	NM_080284.3(ABCA6):c.2523A>T (p.Ala841=)	ABCA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107268	NM_080284.3(ABCA6):c.2437A>G (p.Met813Val)	ABCA6 (M813V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224550	NM_080284.3(ABCA6):c.2422G>A (p.Glu808Lys)	ABCA6 (E808K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107171	NM_080284.3(ABCA6):c.2345A>G (p.Asn782Ser)	ABCA6 (N782S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284878	NM_080284.3(ABCA6):c.2334G>A (p.Met778Ile)	ABCA6 (M778I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547411	NM_080284.3(ABCA6):c.2309G>A (p.Gly770Glu)	ABCA6 (G770E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600936	NM_080284.3(ABCA6):c.2199T>A (p.Asp733Glu)	ABCA6 (D733E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107077	NM_080284.3(ABCA6):c.2197G>A (p.Asp733Asn)	ABCA6 (D733N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107041	NM_080284.3(ABCA6):c.2157C>A (p.Asn719Lys)	ABCA6 (N719K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526846	NM_080284.3(ABCA6):c.2109G>T (p.Arg703Ser)	ABCA6 (R703S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356870	NM_080284.3(ABCA6):c.2058G>A (p.Met686Ile)	ABCA6 (M686I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284554	NM_080284.3(ABCA6):c.2044A>G (p.Arg682Gly)	ABCA6 (R682G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106949	NM_080284.3(ABCA6):c.2003T>C (p.Phe668Ser)	ABCA6 (F668S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617098	NM_080284.3(ABCA6):c.1952A>G (p.Asp651Gly)	ABCA6 (D651G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476551	NM_080284.3(ABCA6):c.1879A>G (p.Ile627Val)	ABCA6 (I627V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380743	NM_080284.3(ABCA6):c.1865A>G (p.Lys622Arg)	ABCA6 (K622R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264586	NM_080284.3(ABCA6):c.1850A>C (p.Glu617Ala)	ABCA6 (E617A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492730	NM_080284.3(ABCA6):c.1846A>G (p.Ser616Gly)	ABCA6 (S616G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106803	NM_080284.3(ABCA6):c.1794A>G (p.Ile598Met)	ABCA6 (I598M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106775	NM_080284.3(ABCA6):c.1742C>A (p.Ala581Asp)	ABCA6 (A581D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106746	NM_080284.3(ABCA6):c.1717G>A (p.Val573Met)	ABCA6 (V573M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390900	NM_080284.3(ABCA6):c.1678G>A (p.Val560Ile)	ABCA6 (V560I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514398	NM_080284.3(ABCA6):c.1644G>A (p.Met548Ile)	ABCA6 (M548I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345746	NM_080284.3(ABCA6):c.1622A>G (p.Tyr541Cys)	ABCA6 (Y541C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648165	NM_080284.3(ABCA6):c.1620C>T (p.Ile540=)	ABCA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343325	NM_080284.3(ABCA6):c.1619T>A (p.Ile540Asn)	ABCA6 (I540N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568585	NM_080284.3(ABCA6):c.1618A>G (p.Ile540Val)	ABCA6 (I540V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375803	NM_080284.3(ABCA6):c.1559A>G (p.Lys520Arg)	ABCA6 (K520R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340363	NM_080284.3(ABCA6):c.1559A>C (p.Lys520Thr)	ABCA6 (K520T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284968	NM_080284.3(ABCA6):c.1544A>G (p.His515Arg)	ABCA6 (H515R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251961	NM_080284.3(ABCA6):c.1541G>T (p.Gly514Val)	ABCA6 (G514V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472750	NM_080284.3(ABCA6):c.1540G>T (p.Gly514Cys)	ABCA6 (G514C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467403	NM_080284.3(ABCA6):c.1469A>G (p.Lys490Arg)	ABCA6 (K490R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284712	NM_080284.3(ABCA6):c.1450A>G (p.Lys484Glu)	ABCA6 (K484E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106396	NM_080284.3(ABCA6):c.1399C>T (p.Pro467Ser)	ABCA6 (P467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400776	NM_080284.3(ABCA6):c.1368T>A (p.Asp456Glu)	ABCA6 (D456E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106343	NM_080284.3(ABCA6):c.1361A>G (p.Glu454Gly)	ABCA6 (E454G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106320	NM_080284.3(ABCA6):c.1280G>A (p.Arg427His)	ABCA6 (R427H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383991	NM_080284.3(ABCA6):c.1268A>T (p.Tyr423Phe)	ABCA6 (Y423F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622322	NM_080284.3(ABCA6):c.1256A>G (p.Lys419Arg)	ABCA6 (K419R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409998	NM_080284.3(ABCA6):c.1186A>G (p.Met396Val)	ABCA6 (M396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526845	NM_080284.3(ABCA6):c.1181A>G (p.Tyr394Cys)	ABCA6 (Y394C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206884	NM_080284.3(ABCA6):c.1105A>C (p.Thr369Pro)	ABCA6 (T369P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278438	NM_080284.3(ABCA6):c.958G>A (p.Val320Met)	ABCA6 (V320M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648166	NM_080284.3(ABCA6):c.792-8T>C	ABCA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2208606	NM_080284.3(ABCA6):c.767T>C (p.Met256Thr)	ABCA6 (M256T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282153	NM_080284.3(ABCA6):c.680T>A (p.Phe227Tyr)	ABCA6 (F227Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108662	NM_080284.3(ABCA6):c.664A>G (p.Met222Val)	ABCA6 (M222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471895	NM_080284.3(ABCA6):c.600G>A (p.Met200Ile)	ABCA6 (M200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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