ADAMTSL5[gene] - ClinVar

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Items: 80

	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 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 2306538	NM_213604.3(ADAMTSL5):c.1411G>A (p.Gly471Ser)	ADAMTSL5 (G481S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2648938	NM_213604.3(ADAMTSL5):c.1399C>T (p.Arg467Trp)	ADAMTSL5 (R467W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3079851	NM_213604.3(ADAMTSL5):c.1345G>A (p.Gly449Ser)	ADAMTSL5 (G459S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079847	NM_213604.3(ADAMTSL5):c.1216C>G (p.Arg406Gly)	ADAMTSL5 (R406G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079843	NM_213604.3(ADAMTSL5):c.1202C>T (p.Ser401Leu)	ADAMTSL5 (S401L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079840	NM_213604.3(ADAMTSL5):c.1174C>T (p.Arg392Cys)	ADAMTSL5 (R392C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079839	NM_213604.3(ADAMTSL5):c.1162C>T (p.Arg388Cys)	ADAMTSL5 (R398C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079836	NM_213604.3(ADAMTSL5):c.1123G>T (p.Ala375Ser)	ADAMTSL5 (A375S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371826	NM_213604.3(ADAMTSL5):c.1102G>A (p.Gly368Ser)	ADAMTSL5 (G368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378354	NM_213604.3(ADAMTSL5):c.1037C>T (p.Ala346Val)	ADAMTSL5 (A346V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284611	NM_213604.3(ADAMTSL5):c.1003C>G (p.Pro335Ala)	ADAMTSL5 (P335A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079961	NM_213604.3(ADAMTSL5):c.997G>A (p.Ala333Thr)	ADAMTSL5 (A333T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592842	NM_213604.3(ADAMTSL5):c.974G>A (p.Arg325Gln)	ADAMTSL5 (R325Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371121	NM_213604.3(ADAMTSL5):c.973C>T (p.Arg325Trp)	ADAMTSL5 (R325W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079953	NM_213604.3(ADAMTSL5):c.959G>T (p.Arg320Met)	ADAMTSL5 (R320M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079951	NM_213604.3(ADAMTSL5):c.932G>C (p.Arg311Pro)	ADAMTSL5 (R311P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401302	NM_213604.3(ADAMTSL5):c.931C>T (p.Arg311Cys)	ADAMTSL5 (R311C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510768	NM_213604.3(ADAMTSL5):c.905G>A (p.Arg302Gln)	ADAMTSL5 (R302Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079942	NM_213604.3(ADAMTSL5):c.904C>T (p.Arg302Trp)	ADAMTSL5 (R302W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346553	NM_213604.3(ADAMTSL5):c.883G>A (p.Glu295Lys)	ADAMTSL5 (E295K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079929	NM_213604.3(ADAMTSL5):c.868C>G (p.Pro290Ala)	ADAMTSL5 (P290A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376495	NM_213604.3(ADAMTSL5):c.862C>A (p.Gln288Lys)	ADAMTSL5 (Q288K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079922	NM_213604.3(ADAMTSL5):c.788G>A (p.Arg263Gln)	ADAMTSL5 (R273Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351676	NM_213604.3(ADAMTSL5):c.766G>A (p.Gly256Ser)	ADAMTSL5 (G256S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237481	NM_213604.3(ADAMTSL5):c.713A>G (p.Tyr238Cys)	ADAMTSL5 (Y238C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208514	NM_213604.3(ADAMTSL5):c.701G>A (p.Gly234Asp)	ADAMTSL5 (G234D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245098	NM_213604.3(ADAMTSL5):c.696G>C (p.Met232Ile)	ADAMTSL5 (M232I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594648	NM_213604.3(ADAMTSL5):c.670A>G (p.Arg224Gly)	ADAMTSL5 (R234G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217929	NM_213604.3(ADAMTSL5):c.598G>A (p.Ala200Thr)	ADAMTSL5 (A200T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602305	NM_213604.3(ADAMTSL5):c.520G>T (p.Gly174Cys)	ADAMTSL5 (G174C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608764	NM_213604.3(ADAMTSL5):c.451C>T (p.Pro151Ser)	ADAMTSL5 (P151S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221396	GRCh38/hg38 19p13.3(chr19:1508507-1510399)x0	ADAMTSL5	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 2311643	NM_213604.3(ADAMTSL5):c.421G>A (p.Gly141Ser)	ADAMTSL5 (G141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244842	NM_213604.3(ADAMTSL5):c.311G>A (p.Arg104His)	ADAMTSL5 (R114H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527927	NM_213604.3(ADAMTSL5):c.310C>A (p.Arg104Ser)	ADAMTSL5 (R104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259238	NM_213604.3(ADAMTSL5):c.310C>T (p.Arg104Cys)	ADAMTSL5 (R114C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079882	NM_213604.3(ADAMTSL5):c.241T>A (p.Cys81Ser)	ADAMTSL5 (C91S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391243	NM_213604.3(ADAMTSL5):c.229G>A (p.Glu77Lys)	ADAMTSL5 (E77K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359140	NM_213604.3(ADAMTSL5):c.209C>T (p.Pro70Leu)	ADAMTSL5 (P70L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599406	NM_213604.3(ADAMTSL5):c.190C>T (p.Arg64Trp)	ADAMTSL5 (R64W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079870	NM_213604.3(ADAMTSL5):c.179G>A (p.Arg60Gln)	ADAMTSL5 (R60Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346083	NM_213604.3(ADAMTSL5):c.178C>T (p.Arg60Trp)	ADAMTSL5 (R70W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541300	NM_213604.3(ADAMTSL5):c.173G>A (p.Arg58His)	ADAMTSL5 (R58H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382635	NM_213604.3(ADAMTSL5):c.158G>A (p.Arg53His)	ADAMTSL5 (R63H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594587	NM_213604.3(ADAMTSL5):c.157C>T (p.Arg53Cys)	ADAMTSL5 (R53C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511854	NM_213604.3(ADAMTSL5):c.137G>A (p.Arg46His)	ADAMTSL5 (R56H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348702	NM_213604.3(ADAMTSL5):c.109G>A (p.Glu37Lys)	ADAMTSL5 (E37K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352079	NM_213604.3(ADAMTSL5):c.89T>C (p.Val30Ala)	ADAMTSL5 (V40A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241963	NM_213604.3(ADAMTSL5):c.88G>T (p.Val30Phe)	ADAMTSL5 (V30F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079855	NM_213604.3(ADAMTSL5):c.13C>A (p.Pro5Thr)	ADAMTSL5 (P5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2427064	NC_000019.9:g.(?_1456055)_(2456931_?)dup	CSNK1G2, PEAK3 +35 more	Duplication	Lipodystrophy, partial, acquired, susceptibility to +1 more	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ARID3A, ARRDC5 +151 more	Duplication	not provided	GUncertain significance
Select item 2424336	NC_000019.9:g.(?_589946)_(2151333_?)dup	NDUFS7, ONECUT3 +61 more	Duplication	Cyclical neutropenia +1 more	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 2422486	NC_000019.9:g.(?_1206913)_(1650247_?)del	CBARP, CIRBP +20 more	Deletion	Cerebral creatine deficiency syndrome	GPathogenic
Select item 1808976	GRCh37/hg19 19p13.3(chr19:1356893-1676446)x1	ADAMTSL5, APC2 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1706510	GRCh37/hg19 19p13.3(chr19:260911-2256387)x3	ABCA7, ABHD17A +77 more	Copy number gain	See cases	GPathogenic
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816060	GRCh37/hg19 19p13.3(chr19:1075192-2256387)x3	MKNK2, MOB3A +43 more	Copy number gain	not provided	GLikely pathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 685369	GRCh37/hg19 19p13.3(chr19:1342624-1817866)x3	ADAMTSL5, APC2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 635917	NC_000019.9:g.1406030_3597207dup	ABHD17A, ADAMTSL5 +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442900	GRCh37/hg19 19p13.3(chr19:260911-1965786)x3	ABCA7, ABHD17A +67 more	Copy number gain	See cases	GLikely pathogenic
Select item 253623	GRCh37/hg19 19p13.3(chr19:277373-2555164)x3	ABCA7, ABHD17A +87 more	Copy number gain	See cases	GPathogenic

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Items: 80