ADAMTSL2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 365569	NM_014694.4(ADAMTSL2):c.-212dup	ADAMTSL2	Duplication (5 prime UTR variant +1 more)	Geleophysic dysplasia	GLikely benign
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 680522	NM_014694.4(ADAMTSL2):c.-150-260G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236377	NM_014694.4(ADAMTSL2):c.-150-241C>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178978	NM_014694.4(ADAMTSL2):c.-150-241C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680461	NM_014694.4(ADAMTSL2):c.-150-79A>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 914314	NM_014694.4(ADAMTSL2):c.-147C>G	ADAMTSL2	Single nucleotide variant (5 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914315	NM_014694.4(ADAMTSL2):c.-90G>C	ADAMTSL2	Single nucleotide variant (5 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365570	NM_014694.4(ADAMTSL2):c.11G>C (p.Arg4Thr)	ADAMTSL2 (R4T)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365571	NM_014694.4(ADAMTSL2):c.58G>A (p.Val20Ile)	ADAMTSL2 (V20I)	Single nucleotide variant (missense variant)	ADAMTSL2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 914316	NM_014694.4(ADAMTSL2):c.81C>T (p.Thr27=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 235675	NM_014694.4(ADAMTSL2):c.88A>G (p.Thr30Ala)	ADAMTSL2 (T30A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1225896	NM_014694.4(ADAMTSL2):c.90+143G>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680523	NM_014694.4(ADAMTSL2):c.91-182T>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3054919	NM_014694.4(ADAMTSL2):c.91-5C>T	ADAMTSL2	Single nucleotide variant (intron variant)	ADAMTSL2-related condition	GLikely benign
Select item 3054346	NM_014694.4(ADAMTSL2):c.101C>A (p.Pro34Gln)	ADAMTSL2 (P34Q)	Single nucleotide variant (missense variant)	ADAMTSL2-related condition	GUncertain significance
Select item 3035152	NM_014694.4(ADAMTSL2):c.105A>G (p.Thr35=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related condition	GLikely benign
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 30944	NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln)	ADAMTSL2 (R72Q)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GPathogenic
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 3035743	NM_014694.4(ADAMTSL2):c.233+4C>T	ADAMTSL2	Single nucleotide variant (intron variant)	ADAMTSL2-related condition	GLikely benign
Select item 427943	NM_014694.4(ADAMTSL2):c.234-2A>G	ADAMTSL2	Single nucleotide variant (splice acceptor variant)	Geleophysic dysplasia 1	GPathogenic
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 365572	NM_014694.4(ADAMTSL2):c.255C>T (p.Pro85=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914317	NM_014694.4(ADAMTSL2):c.258G>C (p.Gly86=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 365573	NM_014694.4(ADAMTSL2):c.279G>A (p.Thr93=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GLikely benign
Select item 976587	NM_014694.4(ADAMTSL2):c.286C>T (p.Arg96Trp)	ADAMTSL2 (R96W)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1209918	NM_014694.4(ADAMTSL2):c.309+16G>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680462	NM_014694.4(ADAMTSL2):c.309+208T>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200431	NM_014694.4(ADAMTSL2):c.310-327G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211048	NM_014694.4(ADAMTSL2):c.310-231G>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680463	NM_014694.4(ADAMTSL2):c.310-199T>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196961	NM_014694.4(ADAMTSL2):c.310-170C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680464	NM_014694.4(ADAMTSL2):c.310-169A>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 976588	NM_014694.4(ADAMTSL2):c.310-10C>T	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1	GLikely benign
Select item 365574	NM_014694.4(ADAMTSL2):c.310-9G>A	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1 +1 more	GBenign/Likely benign
Select item 976603	NM_014694.4(ADAMTSL2):c.318G>A (p.Pro106=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	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 3036812	NM_014694.4(ADAMTSL2):c.321G>A (p.Pro107=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related condition	GLikely benign
Select item 365575	NM_014694.4(ADAMTSL2):c.325G>A (p.Gly109Arg)	ADAMTSL2 (G109R)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1164089	NM_014694.4(ADAMTSL2):c.337C>T (p.Arg113Cys)	ADAMTSL2 (R113C)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type +1 more	GLikely pathogenic
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 694	NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)	ADAMTSL2 (R113H)	Single nucleotide variant (missense variant)	Lethal short-limb skeletal dysplasia, Al Gazali type	GLikely pathogenic
Select item 695	NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)	ADAMTSL2 (E114K)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1 +1 more	GConflicting classifications of pathogenicity
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 624374	NM_014694.4(ADAMTSL2):c.387G>A (p.Thr129=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 365576	NM_014694.4(ADAMTSL2):c.392A>G (p.Gln131Arg)	ADAMTSL2 (Q131R)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 912855	NM_014694.4(ADAMTSL2):c.412+10G>A	ADAMTSL2	Single nucleotide variant (intron variant)	ADAMTSL2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1275045	NM_014694.4(ADAMTSL2):c.412+47T>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275277	NM_014694.4(ADAMTSL2):c.412+245C>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214576	NM_014694.4(ADAMTSL2):c.413-316G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266435	NM_014694.4(ADAMTSL2):c.413-199G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706880	NM_014694.4(ADAMTSL2):c.413-99A>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 693	NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu)	ADAMTSL2 (P147L)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GPathogenic
Select item 365577	NM_014694.4(ADAMTSL2):c.441G>A (p.Pro147=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 930268	NM_014694.4(ADAMTSL2):c.475C>T (p.Arg159Trp)	ADAMTSL2 (R159W)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1224343	NM_014694.4(ADAMTSL2):c.476G>A (p.Arg159Gln)	ADAMTSL2 (R159Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054926	NM_014694.4(ADAMTSL2):c.489C>T (p.Val163=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related condition	GLikely benign
Select item 524194	NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr)	ADAMTSL2 (A165T)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1224341	NM_014694.4(ADAMTSL2):c.494C>T (p.Ala165Val)	ADAMTSL2 (A165V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 624558	NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn)	ADAMTSL2 (D167N)	Single nucleotide variant (missense variant)	Abnormal facial shape +1 more	GPathogenic
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 3039049	NM_014694.4(ADAMTSL2):c.522T>C (p.Thr174=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related condition	GLikely benign
Select item 915302	NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter)	ADAMTSL2 (R177*)	Single nucleotide variant (nonsense)	Geleophysic dysplasia 1	GPathogenic
Select item 1224440	NM_014694.4(ADAMTSL2):c.538del (p.Cys180fs)	ADAMTSL2 (C180fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 912856	NM_014694.4(ADAMTSL2):c.541G>A (p.Val181Met)	ADAMTSL2 (V181M)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1219628	NM_014694.4(ADAMTSL2):c.558+28G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224653	NM_014694.4(ADAMTSL2):c.559-35C>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 912857	NM_014694.4(ADAMTSL2):c.565G>A (p.Gly189Ser)	ADAMTSL2 (G189S)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 3053205	NM_014694.4(ADAMTSL2):c.579G>A (p.Val193=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related condition	GLikely benign
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 912858	NM_014694.4(ADAMTSL2):c.651G>A (p.Thr217=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 30945	NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys)	ADAMTSL2 (R221C)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GPathogenic
Select item 912859	NM_014694.4(ADAMTSL2):c.682+10A>G	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 912860	NM_014694.4(ADAMTSL2):c.682+13G>A	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 1283006	NM_014694.4(ADAMTSL2):c.682+86T>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242775	NM_014694.4(ADAMTSL2):c.682+303_682+305dup	ADAMTSL2	Duplication (intron variant)	not provided	GBenign
Select item 1226365	NM_014694.4(ADAMTSL2):c.682+305dup	ADAMTSL2	Duplication (intron variant)	not provided	GBenign
Select item 1196439	NM_014694.4(ADAMTSL2):c.682+304_682+305dup	ADAMTSL2	Duplication (intron variant)	not provided	GLikely benign
Select item 1264183	NM_014694.4(ADAMTSL2):c.682+305del	ADAMTSL2	Deletion (intron variant)	not provided	GBenign
Select item 680465	NM_014694.4(ADAMTSL2):c.683-225T>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680466	NM_014694.4(ADAMTSL2):c.683-188G>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680467	NM_014694.4(ADAMTSL2):c.683-172A>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680519	NM_014694.4(ADAMTSL2):c.683-135A>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 680468	NM_014694.4(ADAMTSL2):c.683-63C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 365578	NM_014694.4(ADAMTSL2):c.683-12T>G	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1 +1 more	GBenign
Select item 365579	NM_014694.4(ADAMTSL2):c.690T>C (p.Ser230=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1 +1 more	GConflicting classifications of pathogenicity
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 913232	NM_014694.4(ADAMTSL2):c.708G>A (p.Pro236=)	ADAMTSL2	Single nucleotide variant (synonymous 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 1683470	NM_014694.4(ADAMTSL2):c.725T>A (p.Ile242Asn)	ADAMTSL2 (I242N)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 913233	NM_014694.4(ADAMTSL2):c.751G>A (p.Ala251Thr)	ADAMTSL2 (A251T)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365580	NM_014694.4(ADAMTSL2):c.763+7A>G	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 680470	NM_014694.4(ADAMTSL2):c.763+182C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680520	NM_014694.4(ADAMTSL2):c.764-147G>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680471	NM_014694.4(ADAMTSL2):c.764-119C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 365581	NM_014694.4(ADAMTSL2):c.774C>T (p.Asp258=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1 +1 more	GBenign
Select item 913234	NM_014694.4(ADAMTSL2):c.798C>T (p.Asn266=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance

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