ClinVar for Gene (Select 9719) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354829	NM_014694.4(ADAMTSL2):c.199G>A (p.Val67Met)	ADAMTSL2 (V67M)	Single nucleotide variant (missense variant)	ADAMTSL2-related disorder	GUncertain significance
Select item 3352484	NM_014694.4(ADAMTSL2):c.198G>A (p.Gly66=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3350255	NM_014694.4(ADAMTSL2):c.89C>T (p.Thr30Met)	ADAMTSL2 (T30M)	Single nucleotide variant (missense variant)	ADAMTSL2-related disorder	GUncertain significance
Select item 3344616	NM_014694.4(ADAMTSL2):c.249G>A (p.Pro83=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3268356	NM_014694.4(ADAMTSL2):c.509C>T (p.Ser170Phe)	ADAMTSL2 (S170F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268345	NM_014694.4(ADAMTSL2):c.73G>T (p.Val25Leu)	ADAMTSL2 (V25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253357	NM_014694.4(ADAMTSL2):c.162_170del (p.Lys55_Thr57del)	ADAMTSL2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3238673	GRCh38/hg38 9q34.13-34.3(chr9:137552409-137879159)	LOC124375238, LOC124375239 +569 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238671	GRCh38/hg38 9q34.13-34.3(chr9:137552082-137728529)	GBGT1, GLT6D1 +552 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238668	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138052113)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238667	GRCh38/hg38 9q34.13-34.3(chr9:137552409-138059181)	LOC130002921, LOC130002922 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238666	GRCh38/hg38 9q34.13-34.3(chr9:136926151-138059181)	LOC121366034, LOC121366035 +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238664	GRCh38/hg38 9q34.13-34.3(chr9:137590213-137817525)	SARDH, SEC16A +568 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3238663	GRCh38/hg38 9q34.13-34.3(chr9:137590213-138052188)	ABCA2, ABO +572 more	Copy number loss	Kleefstra syndrome 1	GPathogenic
Select item 3234274	NM_014694.4(ADAMTSL2):c.378C>T (p.Asn126=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3079243	NM_014694.4(ADAMTSL2):c.968C>G (p.Ser323Cys)	ADAMTSL2 (S323C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079228	NM_014694.4(ADAMTSL2):c.784T>C (p.Tyr262His)	ADAMTSL2 (Y262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079222	NM_014694.4(ADAMTSL2):c.427A>G (p.Ile143Val)	ADAMTSL2 (I143V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079218	NM_014694.4(ADAMTSL2):c.383G>A (p.Arg128Gln)	ADAMTSL2 (R128Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079214	NM_014694.4(ADAMTSL2):c.382C>T (p.Arg128Trp)	ADAMTSL2 (R128W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079203	NM_014694.4(ADAMTSL2):c.272C>T (p.Thr91Met)	ADAMTSL2 (T91M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079111	NM_014694.4(ADAMTSL2):c.122G>C (p.Gly41Ala)	ADAMTSL2 (G41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3054926	NM_014694.4(ADAMTSL2):c.489C>T (p.Val163=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3054919	NM_014694.4(ADAMTSL2):c.91-5C>T	ADAMTSL2	Single nucleotide variant (intron variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3054346	NM_014694.4(ADAMTSL2):c.101C>A (p.Pro34Gln)	ADAMTSL2 (P34Q)	Single nucleotide variant (missense variant)	ADAMTSL2-related disorder	GUncertain significance
Select item 3053205	NM_014694.4(ADAMTSL2):c.579G>A (p.Val193=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3039049	NM_014694.4(ADAMTSL2):c.522T>C (p.Thr174=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3036812	NM_014694.4(ADAMTSL2):c.321G>A (p.Pro107=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3035743	NM_014694.4(ADAMTSL2):c.233+4C>T	ADAMTSL2	Single nucleotide variant (intron variant)	ADAMTSL2-related disorder	GLikely benign
Select item 3035152	NM_014694.4(ADAMTSL2):c.105A>G (p.Thr35=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder	GLikely benign
Select item 2684589	GRCh37/hg19 9q34.2(chr9:136378366-136726628)x3	ADAMTSL2, DBH +4 more	Copy number gain	not provided	GUncertain significance
Select item 2633504	NM_014694.4(ADAMTSL2):c.1773T>A (p.Cys591Ter)	ADAMTSL2 (C591*)	Single nucleotide variant (nonsense)	ADAMTSL2-related disorder	GLikely pathogenic
Select item 2620111	NM_014694.4(ADAMTSL2):c.998C>T (p.Pro333Leu)	ADAMTSL2 (P333L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550621	NM_014694.4(ADAMTSL2):c.986C>T (p.Thr329Met)	ADAMTSL2 (T329M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531273	NM_014694.4(ADAMTSL2):c.1160G>A (p.Gly387Asp)	ADAMTSL2 (G387D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530556	NM_014694.4(ADAMTSL2):c.1114G>A (p.Gly372Ser)	ADAMTSL2 (G372S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520383	NM_014694.4(ADAMTSL2):c.901G>A (p.Val301Met)	ADAMTSL2 (V301M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512670	NM_014694.4(ADAMTSL2):c.2164C>T (p.Pro722Ser)	ADAMTSL2 (P722S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496244	NM_014694.4(ADAMTSL2):c.1817C>T (p.Ala606Val)	ADAMTSL2 (A606V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475223	NM_014694.4(ADAMTSL2):c.910G>A (p.Gly304Arg)	ADAMTSL2 (G304R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462310	NM_014694.4(ADAMTSL2):c.1280G>T (p.Arg427Leu)	ADAMTSL2 (R427L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2459212	NM_014694.4(ADAMTSL2):c.2122A>T (p.Thr708Ser)	ADAMTSL2 (T708S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458983	NM_014694.4(ADAMTSL2):c.2492C>T (p.Thr831Met)	ADAMTSL2 (T831M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458963	NM_014694.4(ADAMTSL2):c.1231G>A (p.Gly411Ser)	ADAMTSL2 (G411S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2458848	NM_014694.4(ADAMTSL2):c.1963C>T (p.Pro655Ser)	ADAMTSL2 (P655S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458729	NM_014694.4(ADAMTSL2):c.2135G>A (p.Arg712His)	ADAMTSL2 (R712H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454810	NM_014694.4(ADAMTSL2):c.1342G>A (p.Ala448Thr)	ADAMTSL2 (A448T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2438864	NM_014694.4(ADAMTSL2):c.2245T>C (p.Cys749Arg)	ADAMTSL2 (C749R)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 2426886	NC_000009.11:g.(?_136218768)_(141016451_?)dup	STKLD1, STPG3 +110 more	Duplication	Kleefstra syndrome 1	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2422970	NC_000009.11:g.(?_135139626)_(140034216_?)dup	REXO4, RNU6ATAC +100 more	Duplication	Tuberous sclerosis 1 +4 more	GUncertain significance
Select item 2404983	NM_014694.4(ADAMTSL2):c.320C>T (p.Pro107Leu)	ADAMTSL2 (P107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404135	NM_014694.4(ADAMTSL2):c.1094C>T (p.Pro365Leu)	ADAMTSL2 (P365L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382784	NM_014694.4(ADAMTSL2):c.352G>A (p.Val118Ile)	ADAMTSL2 (V118I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2381412	NM_014694.4(ADAMTSL2):c.1048G>A (p.Ala350Thr)	ADAMTSL2 (A350T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375194	NM_014694.4(ADAMTSL2):c.2632G>A (p.Val878Ile)	ADAMTSL2 (V878I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373952	NM_014694.4(ADAMTSL2):c.2492C>G (p.Thr831Arg)	ADAMTSL2 (T831R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373509	NM_014694.4(ADAMTSL2):c.2235C>A (p.Asp745Glu)	ADAMTSL2 (D745E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364523	NM_014694.4(ADAMTSL2):c.2671G>A (p.Asp891Asn)	ADAMTSL2 (D891N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356220	NM_014694.4(ADAMTSL2):c.1792G>A (p.Glu598Lys)	ADAMTSL2 (E598K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348282	NM_014694.4(ADAMTSL2):c.1166C>T (p.Pro389Leu)	ADAMTSL2 (P389L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342943	NM_014694.4(ADAMTSL2):c.1507G>C (p.Glu503Gln)	ADAMTSL2 (E503Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342026	NM_014694.4(ADAMTSL2):c.2018G>A (p.Arg673Gln)	ADAMTSL2 (R673Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315439	NM_014694.4(ADAMTSL2):c.2215C>T (p.Arg739Trp)	ADAMTSL2 (R739W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305009	NM_014694.4(ADAMTSL2):c.1699C>T (p.Arg567Trp)	ADAMTSL2 (R567W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285269	NM_014694.4(ADAMTSL2):c.2425A>G (p.Thr809Ala)	ADAMTSL2 (T809A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281718	NM_014694.4(ADAMTSL2):c.242C>T (p.Ser81Phe)	ADAMTSL2 (S81F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268652	NM_014694.4(ADAMTSL2):c.248C>T (p.Pro83Leu)	ADAMTSL2 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267995	NM_014694.4(ADAMTSL2):c.1430C>T (p.Thr477Ile)	ADAMTSL2 (T477I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264899	NM_014694.4(ADAMTSL2):c.1907G>T (p.Arg636Leu)	ADAMTSL2 (R636L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245895	NM_014694.4(ADAMTSL2):c.1700G>A (p.Arg567Gln)	ADAMTSL2 (R567Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230950	NM_014694.4(ADAMTSL2):c.2014G>A (p.Val672Met)	ADAMTSL2 (V672M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222644	NM_014694.4(ADAMTSL2):c.650C>T (p.Thr217Met)	ADAMTSL2 (T217M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208099	NM_014694.4(ADAMTSL2):c.1075G>A (p.Gly359Arg)	ADAMTSL2 (G359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205218	NM_014694.4(ADAMTSL2):c.2008G>A (p.Glu670Lys)	ADAMTSL2 (E670K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1805804	NM_014694.4(ADAMTSL2):c.1321G>A (p.Glu441Lys)	ADAMTSL2 (E441K)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1723868	NM_014694.4(ADAMTSL2):c.707C>T (p.Pro236Leu)	ADAMTSL2 (P236L)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1710165	NM_014694.4(ADAMTSL2):c.718C>T (p.Arg240Ter)	ADAMTSL2 (R240*)	Single nucleotide variant (nonsense)	Lethal short-limb skeletal dysplasia, Al Gazali type	GLikely pathogenic
Select item 1710164	NM_014694.4(ADAMTSL2):c.496C>T (p.Arg166Cys)	ADAMTSL2 (R166C)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GLikely pathogenic
Select item 1710163	NM_014694.4(ADAMTSL2):c.800G>T (p.Gly267Val)	ADAMTSL2 (G267V)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GLikely pathogenic
Select item 1710162	NM_014694.4(ADAMTSL2):c.229C>T (p.Gln77Ter)	ADAMTSL2 (Q77*)	Single nucleotide variant (nonsense)	Lethal short-limb skeletal dysplasia, Al Gazali type	GLikely pathogenic
Select item 1710161	NM_014694.4(ADAMTSL2):c.2626C>G (p.Arg876Gly)	ADAMTSL2 (R876G)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GUncertain significance
Select item 1710160	NM_014694.4(ADAMTSL2):c.502G>A (p.Gly168Ser)	ADAMTSL2 (G168S)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GLikely pathogenic
Select item 1710159	NM_014694.4(ADAMTSL2):c.2137T>C (p.Cys713Arg)	ADAMTSL2 (C713R)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GUncertain significance
Select item 1710158	NM_014694.4(ADAMTSL2):c.1998C>G (p.Cys666Trp)	ADAMTSL2 (C666W)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GUncertain significance
Select item 1710157	NM_014694.4(ADAMTSL2):c.1061del (p.Gly354fs)	ADAMTSL2 (G354fs)	Deletion (frameshift variant)	Geleophysic dysplasia 1 +1 more	GLikely pathogenic
Select item 1710156	NM_014694.4(ADAMTSL2):c.157T>C (p.Trp53Arg)	ADAMTSL2 (W53R)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GUncertain significance
Select item 1706880	NM_014694.4(ADAMTSL2):c.413-99A>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701586	NM_014694.4(ADAMTSL2):c.2556_2557delinsTT (p.Arg852_Pro853delinsSerSer)	ADAMTSL2	Indel (missense variant)	not provided	GUncertain significance
Select item 1683470	NM_014694.4(ADAMTSL2):c.725T>A (p.Ile242Asn)	ADAMTSL2 (I242N)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1334608	NM_014694.4(ADAMTSL2):c.-151+2T>C	ADAMTSL2	Single nucleotide variant (intron variant +1 more)	Lethal short-limb skeletal dysplasia, Al Gazali type +1 more	GUncertain significance
Select item 1334607	NM_014694.4(ADAMTSL2):c.1934G>A (p.Arg645His)	ADAMTSL2 (R645H)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type +1 more	GUncertain significance
Select item 1326072	NM_014694.4(ADAMTSL2):c.338G>T (p.Arg113Leu)	ADAMTSL2 (R113L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1326007	NM_014694.4(ADAMTSL2):c.1851C>A (p.Cys617Ter)	ADAMTSL2 (C617*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1319779	NM_014694.4(ADAMTSL2):c.*4C>T	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 1293748	NM_014694.4(ADAMTSL2):c.939+303A>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283006	NM_014694.4(ADAMTSL2):c.682+86T>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign

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