ABCA7[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 151474	GRCh38/hg38 19p13.3(chr19:1039558-1161676)x3	ABCA7, ARHGAP45 +25 more	Copy number gain	See cases	GLikely benign
Select item 3060463	NM_019112.4(ABCA7):c.-9A>G	ABCA7	Single nucleotide variant (5 prime UTR variant)	ABCA7-related disorder	GBenign
Select item 2648886	NM_019112.4(ABCA7):c.27G>A (p.Leu9=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410272	NM_019112.4(ABCA7):c.55C>T (p.Arg19Trp)	ABCA7 (R19W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715315	NM_019112.4(ABCA7):c.98T>C (p.Leu33Pro)	ABCA7 (L33P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 752423	NM_019112.4(ABCA7):c.160+10C>G	ABCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1339045	NM_019112.4(ABCA7):c.161-2A>T	ABCA7	Single nucleotide variant (splice acceptor variant)	Alzheimer disease 9	GUncertain significance
Select item 763780	NM_019112.4(ABCA7):c.240C>T (p.Thr80=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678180	NM_019112.4(ABCA7):c.273del (p.Arg93fs)	ABCA7 (R93fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1810281	NM_019112.4(ABCA7):c.302T>G (p.Leu101Arg)	ABCA7 (L101R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis	GUncertain significance
Select item 735421	NM_019112.4(ABCA7):c.303-4C>G	ABCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 740361	NM_019112.4(ABCA7):c.318A>G (p.Leu106=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 777342	NM_019112.4(ABCA7):c.455C>T (p.Pro152Leu)	ABCA7 (P152L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 727265	NM_019112.4(ABCA7):c.495C>T (p.Arg165=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043028	NM_019112.4(ABCA7):c.501A>G (p.Glu167=)	ABCA7	Single nucleotide variant (synonymous variant)	ABCA7-related disorder	GBenign
Select item 1237748	NM_019112.4(ABCA7):c.563A>G (p.Glu188Gly)	ABCA7 (E188G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715540	NM_019112.4(ABCA7):c.579+5G>A	ABCA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2281533	NM_019112.4(ABCA7):c.587C>T (p.Ala196Val)	ABCA7 (A196V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1154619	NM_019112.4(ABCA7):c.592C>T (p.Arg198Cys)	ABCA7 (R198C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1319708	NM_019112.4(ABCA7):c.679G>A (p.Val227Ile)	ABCA7 (V227I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3112755	NM_019112.4(ABCA7):c.692G>A (p.Ser231Asn)	ABCA7 (S231N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112768	NM_019112.4(ABCA7):c.701T>G (p.Val234Gly)	ABCA7 (V234G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3112788	NM_019112.4(ABCA7):c.717C>A (p.Asn239Lys)	ABCA7 (N239K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777343	NM_019112.4(ABCA7):c.723C>T (p.Tyr241=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2463986	NM_019112.4(ABCA7):c.733G>T (p.Asp245Tyr)	ABCA7 (D245Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112865	NM_019112.4(ABCA7):c.736C>G (p.Leu246Val)	ABCA7 (L246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314442	NM_019112.4(ABCA7):c.779A>T (p.Asp260Val)	ABCA7 (D260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056177	NM_019112.4(ABCA7):c.790+10T>G	ABCA7	Single nucleotide variant (intron variant)	ABCA7-related disorder	GBenign
Select item 2520461	NM_019112.4(ABCA7):c.832C>T (p.Pro278Ser)	ABCA7 (P278S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112955	NM_019112.4(ABCA7):c.842G>T (p.Arg281Leu)	ABCA7 (R281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049008	NM_019112.4(ABCA7):c.913C>T (p.Arg305Trp)	ABCA7 (R305W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648887	NM_019112.4(ABCA7):c.954C>T (p.Leu318=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2222998	NM_019112.4(ABCA7):c.1000C>T (p.Arg334Trp)	ABCA7 (R334W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678175	NM_019112.4(ABCA7):c.1009dup (p.Thr337fs)	ABCA7 (T337fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2556046	NM_019112.4(ABCA7):c.1024A>G (p.Ser342Gly)	ABCA7 (S342G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678176	NM_019112.4(ABCA7):c.1048-2A>C	ABCA7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 916330	NM_019112.4(ABCA7):c.1048C>T (p.Arg350Trp)	ABCA7 (R350W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715541	NM_019112.4(ABCA7):c.1061T>C (p.Met354Thr)	ABCA7 (M354T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3108823	NM_019112.4(ABCA7):c.1091C>G (p.Pro364Arg)	ABCA7 (P364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320053	NM_019112.4(ABCA7):c.1093G>A (p.Gly365Arg)	ABCA7 (G365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108887	NM_019112.4(ABCA7):c.1118T>A (p.Leu373Gln)	ABCA7 (L373Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710668	NM_019112.4(ABCA7):c.1186_1196del (p.Leu396fs)	ABCA7 (L396fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2397237	NM_019112.4(ABCA7):c.1181G>A (p.Gly394Glu)	ABCA7 (G394E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781374	NM_019112.4(ABCA7):c.1241C>G (p.Ala414Gly)	ABCA7 (A414G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3108957	NM_019112.4(ABCA7):c.1320C>A (p.Phe440Leu)	ABCA7 (F440L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678179	NM_019112.4(ABCA7):c.1337_1338del (p.Ser446fs)	ABCA7 (S446fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2585154	NM_019112.4(ABCA7):c.1364C>T (p.Pro455Leu)	ABCA7 (P455L)	Single nucleotide variant (missense variant)	Alzheimer disease 9	GUncertain significance
Select item 1249491	NM_019112.4(ABCA7):c.1388G>A (p.Arg463His)	ABCA7 (R463H)	Single nucleotide variant (missense variant)	ABCA7-related disorder +1 more	GBenign
Select item 1678054	NM_019112.4(ABCA7):c.1426A>C (p.Thr476Pro)	ABCA7 (T476P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648888	NM_019112.4(ABCA7):c.1438A>C (p.Arg480=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764172	NM_019112.4(ABCA7):c.1445+9A>T	ABCA7, LOC130062869	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2336809	NM_019112.4(ABCA7):c.1501G>A (p.Gly501Ser)	ABCA7 (G501S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109024	NM_019112.4(ABCA7):c.1502G>T (p.Gly501Val)	ABCA7 (G501V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1677959	NM_019112.4(ABCA7):c.1504G>A (p.Gly502Ser)	ABCA7 (G502S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2249032	NM_019112.4(ABCA7):c.1510G>A (p.Val504Met)	ABCA7 (V504M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606981	NM_019112.4(ABCA7):c.1513T>A (p.Tyr505Asn)	ABCA7 (Y505N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324340	NM_019112.4(ABCA7):c.1533G>C (p.Glu511Asp)	ABCA7 (E511D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347864	NM_019112.4(ABCA7):c.1547G>C (p.Arg516Pro)	ABCA7 (R516P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589537	NM_019112.4(ABCA7):c.1558G>A (p.Gly520Ser)	ABCA7 (G520S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243971	NM_019112.4(ABCA7):c.1571G>A (p.Arg524Gln)	ABCA7 (R524Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648889	NM_019112.4(ABCA7):c.1575C>T (p.Ala525=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329005	NM_019112.4(ABCA7):c.1593G>C (p.Gln531His)	ABCA7 (Q531H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1678172	NM_019112.4(ABCA7):c.1622+2_1622+3del	ABCA7	Microsatellite (splice donor variant)	not provided	GLikely pathogenic
Select item 444439	NM_019112.4(ABCA7):c.1621G>A (p.Val541Met)	ABCA7 (V541M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2319476	NM_019112.4(ABCA7):c.1643G>T (p.Arg548Leu)	ABCA7 (R548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466425	NM_019112.4(ABCA7):c.1684G>A (p.Val562Met)	ABCA7 (V562M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109290	NM_019112.4(ABCA7):c.1694C>T (p.Thr565Ile)	ABCA7 (T565I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648890	NM_019112.4(ABCA7):c.1712G>C (p.Arg571Pro)	ABCA7 (R571P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2253458	NM_019112.4(ABCA7):c.1716G>C (p.Glu572Asp)	ABCA7 (E572D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785599	NM_019112.4(ABCA7):c.1732_1775del (p.Arg578fs)	ABCA7 (R578fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 735385	NM_019112.4(ABCA7):c.1766C>T (p.Ala589Val)	ABCA7 (A589V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3058038	NM_019112.4(ABCA7):c.1767G>A (p.Ala589=)	ABCA7	Single nucleotide variant (synonymous variant)	ABCA7-related disorder	GLikely benign
Select item 1178347	NM_019112.4(ABCA7):c.1776G>T (p.Trp592Cys)	ABCA7 (W592C)	Single nucleotide variant (missense variant)	Alzheimer disease 9	Grisk factor
Select item 3109348	NM_019112.4(ABCA7):c.1795T>C (p.Cys599Arg)	ABCA7 (C599R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050547	NM_019112.4(ABCA7):c.1838T>C (p.Val613Ala)	ABCA7 (V613A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2330111	NM_019112.4(ABCA7):c.1856T>A (p.Ile619Asn)	ABCA7 (I619N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542038	NM_019112.4(ABCA7):c.1862C>T (p.Pro621Leu)	ABCA7 (P621L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539652	NM_019112.4(ABCA7):c.1877G>A (p.Gly626Asp)	ABCA7 (G626D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 796852	NM_019112.4(ABCA7):c.1902C>T (p.Ala634=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2474306	NM_019112.4(ABCA7):c.1909G>T (p.Val637Leu)	ABCA7 (V637L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797117	NM_019112.4(ABCA7):c.1929C>T (p.Ser643=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3109480	NM_019112.4(ABCA7):c.1943C>T (p.Ala648Val)	ABCA7 (A648V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519475	NM_019112.4(ABCA7):c.1952C>G (p.Ser651Cys)	ABCA7 (S651C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109543	NM_019112.4(ABCA7):c.1958C>T (p.Ala653Val)	ABCA7 (A653V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109567	NM_019112.4(ABCA7):c.1970C>T (p.Ala657Val)	ABCA7 (A657V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280608	NM_019112.4(ABCA7):c.1979G>A (p.Gly660Asp)	ABCA7 (G660D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735930	NM_019112.4(ABCA7):c.2007G>A (p.Leu669=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1255334	NM_019112.4(ABCA7):c.2026G>A (p.Ala676Thr)	ABCA7 (A676T)	Single nucleotide variant (missense variant)	ABCA7-related disorder +1 more	GBenign
Select item 735038	NM_019112.4(ABCA7):c.2046C>T (p.Pro682=)	ABCA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3043653	NM_019112.4(ABCA7):c.2067G>A (p.Ala689=)	ABCA7	Single nucleotide variant (synonymous variant)	ABCA7-related disorder	GLikely benign

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