"GeneDx"[submitter] AND "ADAMTSL2"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Geleophysic dysplasia 1 +1 more	GBenign
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 3253357	NM_014694.4(ADAMTSL2):c.162_170del (p.Lys55_Thr57del)	ADAMTSL2	Deletion (inframe_deletion)	not provided	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 365574	NM_014694.4(ADAMTSL2):c.310-9G>A	ADAMTSL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 695	NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)	ADAMTSL2 (E114K)	Single nucleotide variant (missense variant)	Geleophysic dysplasia +2 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 3369333	NM_014694.4(ADAMTSL2):c.460A>C (p.Thr154Pro)	ADAMTSL2 (T154P)	Single nucleotide variant (missense variant)	not provided	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 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)	Geleophysic dysplasia 1 +1 more	GBenign
Select item 680468	NM_014694.4(ADAMTSL2):c.683-63C>T	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1 +1 more	GBenign
Select item 365578	NM_014694.4(ADAMTSL2):c.683-12T>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 365582	NM_014694.4(ADAMTSL2):c.840A>T (p.Ala280=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 365583	NM_014694.4(ADAMTSL2):c.859A>C (p.Arg287=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 386705	NM_014694.4(ADAMTSL2):c.862C>T (p.Arg288Trp)	ADAMTSL2 (R288W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 365584	NM_014694.4(ADAMTSL2):c.900C>T (p.Ile300=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 365585	NM_014694.4(ADAMTSL2):c.939+11C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 680472	NM_014694.4(ADAMTSL2):c.939+47T>C	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1 +1 more	GBenign
Select item 680521	NM_014694.4(ADAMTSL2):c.939+119C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268460	NM_014694.4(ADAMTSL2):c.939+263C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243375	NM_014694.4(ADAMTSL2):c.939+299A>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293748	NM_014694.4(ADAMTSL2):c.939+303A>G	ADAMTSL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 912901	NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile)	ADAMTSL2 (V364I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1 +2 more	GBenign/Likely benign
Select item 365591	NM_014694.4(ADAMTSL2):c.1230C>T (p.Ala410=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 913274	NM_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser)	ADAMTSL2 (G421S)	Single nucleotide variant (missense variant)	Connective tissue dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 365599	NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1326007	NM_014694.4(ADAMTSL2):c.1851C>A (p.Cys617Ter)	ADAMTSL2 (C617*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 914904	NM_014694.4(ADAMTSL2):c.2007C>T (p.Ala669=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 518395	NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 365601	NM_014694.4(ADAMTSL2):c.2049C>T (p.Pro683=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 1207788	NM_014694.4(ADAMTSL2):c.2089-12del	ADAMTSL2	Deletion (intron variant)	not provided	GLikely benign
Select item 365603	NM_014694.4(ADAMTSL2):c.2142G>A (p.Ser714=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 518396	NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 365604	NM_014694.4(ADAMTSL2):c.2325C>G (p.Ser775=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 913309	NM_014694.4(ADAMTSL2):c.2416-9C>T	ADAMTSL2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 365605	NM_014694.4(ADAMTSL2):c.2436C>T (p.Arg812=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 365609	NM_014694.4(ADAMTSL2):c.2520C>T (p.Ala840=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 365611	NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 365613	NM_014694.4(ADAMTSL2):c.*92G>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 365614	NM_014694.4(ADAMTSL2):c.*158G>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 365615	NM_014694.4(ADAMTSL2):c.*217G>T	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 365619	NM_014694.4(ADAMTSL2):c.*291del	ADAMTSL2	Deletion (3 prime UTR variant)	Geleophysic dysplasia +1 more	GBenign
Select item 912995	NM_014694.4(ADAMTSL2):c.*287C>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 72