14632[HGNC] - 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	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	SNORD137, SPATA6L +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	LOC130001522, LOC130001523 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC105375972, LOC105375976 +295 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 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	ADAMTSL1, BNC2 +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)	ACER2, ACO1 +691 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)	not specified	GUncertain significance
Select item 2330778	NM_001040272.6(ADAMTSL1):c.79C>T (p.Arg27Cys)	ADAMTSL1 (R27C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362433	NM_001040272.6(ADAMTSL1):c.91G>A (p.Asp31Asn)	ADAMTSL1 (D31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054042	NM_001040272.6(ADAMTSL1):c.95G>A (p.Arg32Gln)	ADAMTSL1 (R32Q)	Single nucleotide variant (missense variant)	ADAMTSL1-related disorder	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)	not specified	GUncertain significance
Select item 2378947	NM_001040272.6(ADAMTSL1):c.110A>C (p.Asp37Ala)	ADAMTSL1 (D37A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304365	NM_001040272.6(ADAMTSL1):c.157G>T (p.Ala53Ser)	ADAMTSL1 (A53S)	Single nucleotide variant (missense variant)	not specified	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 3078819	NM_001040272.6(ADAMTSL1):c.175C>G (p.Arg59Gly)	ADAMTSL1 (R59G)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3268285	NM_001040272.6(ADAMTSL1):c.230G>A (p.Ser77Asn)	ADAMTSL1 (S77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299838	NM_001040272.6(ADAMTSL1):c.248C>T (p.Pro83Leu)	ADAMTSL1 (P83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209189	NM_001040272.6(ADAMTSL1):c.257G>A (p.Gly86Asp)	ADAMTSL1 (G86D)	Single nucleotide variant (missense variant)	not specified	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 3078935	NM_001040272.6(ADAMTSL1):c.303C>A (p.His101Gln)	ADAMTSL1 (H101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597838	NM_001040272.6(ADAMTSL1):c.305A>C (p.His102Pro)	ADAMTSL1 (H102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528078	NM_001040272.6(ADAMTSL1):c.344C>T (p.Pro115Leu)	ADAMTSL1 (P115L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2598628	NM_001040272.6(ADAMTSL1):c.487G>A (p.Asp163Asn)	ADAMTSL1 (D163N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042672	NM_001040272.6(ADAMTSL1):c.508G>A (p.Val170Ile)	ADAMTSL1 (V170I)	Single nucleotide variant (missense variant)	ADAMTSL1-related disorder	GLikely benign
Select item 2459416	NM_001040272.6(ADAMTSL1):c.556C>T (p.Arg186Trp)	ADAMTSL1 (R186W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460089	NM_001040272.6(ADAMTSL1):c.641A>G (p.His214Arg)	ADAMTSL1 (H214R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569007	NM_001040272.6(ADAMTSL1):c.782A>G (p.Asp261Gly)	ADAMTSL1 (D261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318085	NM_001040272.6(ADAMTSL1):c.800T>C (p.Met267Thr)	ADAMTSL1 (M267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212429	NM_001040272.6(ADAMTSL1):c.992G>A (p.Arg331His)	ADAMTSL1 (R331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268224	NM_001040272.6(ADAMTSL1):c.994G>C (p.Val332Leu)	ADAMTSL1 (V332L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229135	NM_001040272.6(ADAMTSL1):c.1009T>G (p.Tyr337Asp)	ADAMTSL1 (Y337D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306410	NM_001040272.6(ADAMTSL1):c.1032C>G (p.Asn344Lys)	ADAMTSL1 (N344K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078778	NM_001040272.6(ADAMTSL1):c.1042A>C (p.Lys348Gln)	ADAMTSL1 (K348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301593	NM_001040272.6(ADAMTSL1):c.1103T>A (p.Ile368Asn)	ADAMTSL1 (I368N)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2524861	NM_001040272.6(ADAMTSL1):c.1268C>T (p.Thr423Ile)	ADAMTSL1 (T423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078790	NM_001040272.6(ADAMTSL1):c.1324G>A (p.Ala442Thr)	ADAMTSL1 (A442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078792	NM_001040272.6(ADAMTSL1):c.1340C>T (p.Pro447Leu)	ADAMTSL1 (P447L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2271398	NM_001040272.6(ADAMTSL1):c.1376G>A (p.Arg459His)	ADAMTSL1 (R459H)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2629331	NM_001040272.6(ADAMTSL1):c.1504G>A (p.Glu502Lys)	ADAMTSL1 (E502K)	Single nucleotide variant (missense variant)	ADAMTSL1-related disorder	GUncertain significance
Select item 2480794	NM_001040272.6(ADAMTSL1):c.1534C>G (p.Gln512Glu)	ADAMTSL1 (Q512E)	Single nucleotide variant (missense variant)	not specified	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 3268153	NM_001040272.6(ADAMTSL1):c.1688C>T (p.Pro563Leu)	ADAMTSL1 (P563L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2399373	NM_001040272.6(ADAMTSL1):c.1739C>G (p.Ala580Gly)	ADAMTSL1 (A580G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246522	NM_001040272.6(ADAMTSL1):c.1777G>C (p.Asp593His)	ADAMTSL1 (D593H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078820	NM_001040272.6(ADAMTSL1):c.1788T>A (p.Asp596Glu)	ADAMTSL1 (D596E)	Single nucleotide variant (missense variant)	not specified	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 3268110	NM_001040272.6(ADAMTSL1):c.1801G>C (p.Gly601Arg)	ADAMTSL1 (G601R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268235	NM_001040272.6(ADAMTSL1):c.1810G>A (p.Asp604Asn)	ADAMTSL1 (D604N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284089	NM_001040272.6(ADAMTSL1):c.1861G>A (p.Glu621Lys)	ADAMTSL1 (E621K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078827	NM_001040272.6(ADAMTSL1):c.1919G>A (p.Arg640Gln)	ADAMTSL1 (R640Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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