ADAMTSL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001533, LOC130001534 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	STOML2, TAF1L +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	HRCT1, IFNA1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	INSL4, INSL6 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	LOC130001589, LOC130001590 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001787, LOC130001788 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001685, LOC130001686 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	DMRT2, DMRT3 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	FAM242F, FAM27C +979 more	Copy number gain	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	LOC130001453, LOC130001454 +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	ADAMTSL1, AK3 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	LOC129929032, LOC130001435 +538 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001450, LOC130001451 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860590, LOC126860591 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	ADAMTSL1, AK3 +295 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	KANK1, KCNV2 +893 more	Copy number gain	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	LOC130001488, LOC130001489 +292 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	ACER2, ADAMTSL1 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	ACER2, ADAMTSL1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	ACER2, ADAMTSL1 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001651, LOC130001652 +585 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 57009	GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1	BNC2-AS1, ADAMTSL1 +67 more	Copy number loss	See cases	GPathogenic
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 147568	GRCh38/hg38 9p22.2-22.1(chr9:17502887-18681091)x3	ADAMTSL1, CNTLN +6 more	Copy number gain	See cases	GPathogenic
Select item 144264	GRCh38/hg38 9p22.2-22.1(chr9:18243674-19009772)x3	ADAMTSL1, LOC114827838 +5 more	Copy number gain	See cases	GUncertain significance
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001669, LOC130001670 +690 more	Copy number gain	See cases	GPathogenic
Select item 2289377	NM_001040272.6(ADAMTSL1):c.20C>G (p.Ala7Gly)	ADAMTSL1 (A7G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330778	NM_001040272.6(ADAMTSL1):c.79C>T (p.Arg27Cys)	ADAMTSL1 (R27C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362433	NM_001040272.6(ADAMTSL1):c.91G>A (p.Asp31Asn)	ADAMTSL1 (D31N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054042	NM_001040272.6(ADAMTSL1):c.95G>A (p.Arg32Gln)	ADAMTSL1 (R32Q)	Single nucleotide variant (missense variant)	ADAMTSL1-related condition	GLikely benign
Select item 783543	NM_001040272.6(ADAMTSL1):c.105A>G (p.Leu35=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2378946	NM_001040272.6(ADAMTSL1):c.109G>T (p.Asp37Tyr)	ADAMTSL1 (D37Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378947	NM_001040272.6(ADAMTSL1):c.110A>C (p.Asp37Ala)	ADAMTSL1 (D37A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304365	NM_001040272.6(ADAMTSL1):c.157G>T (p.Ala53Ser)	ADAMTSL1 (A53S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1703108	NM_001040272.6(ADAMTSL1):c.164A>G (p.Tyr55Cys)	ADAMTSL1 (Y55C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 771427	NM_001040272.6(ADAMTSL1):c.204A>G (p.Gly68=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2338853	NM_001040272.6(ADAMTSL1):c.215G>A (p.Arg72Gln)	ADAMTSL1 (R72Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299838	NM_001040272.6(ADAMTSL1):c.248C>T (p.Pro83Leu)	ADAMTSL1 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209189	NM_001040272.6(ADAMTSL1):c.257G>A (p.Gly86Asp)	ADAMTSL1 (G86D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575899	NM_001040272.6(ADAMTSL1):c.281C>T (p.Ser94Leu)	ADAMTSL1 (S94L)	Single nucleotide variant (missense variant)	Orofacial cleft 1	GUncertain significance
Select item 2597838	NM_001040272.6(ADAMTSL1):c.305A>C (p.His102Pro)	ADAMTSL1 (H102P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528078	NM_001040272.6(ADAMTSL1):c.344C>T (p.Pro115Leu)	ADAMTSL1 (P115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659093	NM_001040272.6(ADAMTSL1):c.383C>A (p.Thr128Lys)	ADAMTSL1 (T128K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786133	NM_001040272.6(ADAMTSL1):c.391G>T (p.Val131Phe)	ADAMTSL1 (V131F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2224786	NM_001040272.6(ADAMTSL1):c.476T>C (p.Ile159Thr)	ADAMTSL1 (I159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598628	NM_001040272.6(ADAMTSL1):c.487G>A (p.Asp163Asn)	ADAMTSL1 (D163N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042672	NM_001040272.6(ADAMTSL1):c.508G>A (p.Val170Ile)	ADAMTSL1 (V170I)	Single nucleotide variant (missense variant)	ADAMTSL1-related condition	GLikely benign
Select item 2459416	NM_001040272.6(ADAMTSL1):c.556C>T (p.Arg186Trp)	ADAMTSL1 (R186W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460089	NM_001040272.6(ADAMTSL1):c.641A>G (p.His214Arg)	ADAMTSL1 (H214R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569007	NM_001040272.6(ADAMTSL1):c.782A>G (p.Asp261Gly)	ADAMTSL1 (D261G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318085	NM_001040272.6(ADAMTSL1):c.800T>C (p.Met267Thr)	ADAMTSL1 (M267T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212429	NM_001040272.6(ADAMTSL1):c.992G>A (p.Arg331His)	ADAMTSL1 (R331H)	Single nucleotide variant (missense variant)	ADAMTSL1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2229135	NM_001040272.6(ADAMTSL1):c.1009T>G (p.Tyr337Asp)	ADAMTSL1 (Y337D)	Single nucleotide variant (missense variant)	ADAMTSL1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2306410	NM_001040272.6(ADAMTSL1):c.1032C>G (p.Asn344Lys)	ADAMTSL1 (N344K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301593	NM_001040272.6(ADAMTSL1):c.1103T>A (p.Ile368Asn)	ADAMTSL1 (I368N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659094	NM_001040272.6(ADAMTSL1):c.1137-4G>A	ADAMTSL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1686426	NM_001040272.6(ADAMTSL1):c.1184dup (p.Ile396fs)	ADAMTSL1 (I396fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2328496	NM_001040272.6(ADAMTSL1):c.1196G>A (p.Arg399Gln)	ADAMTSL1 (R399Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524861	NM_001040272.6(ADAMTSL1):c.1268C>T (p.Thr423Ile)	ADAMTSL1 (T423I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 735656	NM_001040272.6(ADAMTSL1):c.1342-8C>G	ADAMTSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2459588	NM_001040272.6(ADAMTSL1):c.1372T>C (p.Tyr458His)	ADAMTSL1 (Y458H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271398	NM_001040272.6(ADAMTSL1):c.1376G>A (p.Arg459His)	ADAMTSL1 (R459H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686428	NM_001040272.6(ADAMTSL1):c.1392del (p.Ile464fs)	ADAMTSL1 (I464fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 2368614	NM_001040272.6(ADAMTSL1):c.1412C>A (p.Thr471Lys)	ADAMTSL1 (T471K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2629331	NM_001040272.6(ADAMTSL1):c.1504G>A (p.Glu502Lys)	ADAMTSL1 (E502K)	Single nucleotide variant (missense variant)	ADAMTSL1-related condition	GUncertain significance
Select item 2480794	NM_001040272.6(ADAMTSL1):c.1534C>G (p.Gln512Glu)	ADAMTSL1 (Q512E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659095	NM_001040272.6(ADAMTSL1):c.1575-8G>A	ADAMTSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 720133	NM_001040272.6(ADAMTSL1):c.1695C>T (p.Asp565=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327410	NM_001040272.6(ADAMTSL1):c.1727G>A (p.Arg576His)	ADAMTSL1 (R576H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399373	NM_001040272.6(ADAMTSL1):c.1739C>G (p.Ala580Gly)	ADAMTSL1 (A580G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246522	NM_001040272.6(ADAMTSL1):c.1777G>C (p.Asp593His)	ADAMTSL1 (D593H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 716746	NM_001040272.6(ADAMTSL1):c.1794C>T (p.Leu598=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2284089	NM_001040272.6(ADAMTSL1):c.1861G>A (p.Glu621Lys)	ADAMTSL1 (E621K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460994	NM_001040272.6(ADAMTSL1):c.1923G>C (p.Glu641Asp)	ADAMTSL1 (E641D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341604	NM_001040272.6(ADAMTSL1):c.1958G>A (p.Arg653Gln)	ADAMTSL1 (R653Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484989	NM_001040272.6(ADAMTSL1):c.1979C>T (p.Ser660Phe)	ADAMTSL1 (S660F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2659096	NM_001040272.6(ADAMTSL1):c.2007-4_2007-3del	ADAMTSL1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2364651	NM_001040272.6(ADAMTSL1):c.2017G>A (p.Gly673Ser)	ADAMTSL1 (G673S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 786568	NM_001040272.6(ADAMTSL1):c.2163A>G (p.Gln721=)	ADAMTSL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2623015	NM_001040272.6(ADAMTSL1):c.2173C>T (p.Arg725Cys)	ADAMTSL1 (R725C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407052	NM_001040272.6(ADAMTSL1):c.2173C>A (p.Arg725Ser)	ADAMTSL1 (R725S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349016	NM_001040272.6(ADAMTSL1):c.2252G>A (p.Arg751His)	ADAMTSL1, LOC126860588 (R751H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336983	NM_001040272.6(ADAMTSL1):c.2395G>A (p.Glu799Lys)	ADAMTSL1, LOC126860588 (E799K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393272	NM_001040272.6(ADAMTSL1):c.2437G>A (p.Ala813Thr)	ADAMTSL1 (A813T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334397	NM_001040272.6(ADAMTSL1):c.2572A>G (p.Lys858Glu)	ADAMTSL1 (K858E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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