ClinVar for MedGen (Select 479777) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1710157	NM_014694.4(ADAMTSL2):c.1061del (p.Gly354fs)	ADAMTSL2 (G354fs)	Deletion (frameshift variant)	Geleophysic dysplasia 1 +1 more	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 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 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 1162207	NM_014694.4(ADAMTSL2):c.2737+1G>T	ADAMTSL2	Single nucleotide variant (splice donor variant)	Geleophysic dysplasia 1	GLikely pathogenic
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 976588	NM_014694.4(ADAMTSL2):c.310-10C>T	ADAMTSL2	Single nucleotide variant (intron 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 931256	NM_014694.4(ADAMTSL2):c.2839A>G (p.Arg947Gly)	ADAMTSL2 (R947G)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 930269	NM_014694.4(ADAMTSL2):c.845C>T (p.Thr282Met)	ADAMTSL2 (T282M)	Single nucleotide variant (missense 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 915302	NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter)	ADAMTSL2 (R177*)	Single nucleotide variant (nonsense)	Geleophysic dysplasia 1	GPathogenic
Select item 914952	NM_014694.4(ADAMTSL2):c.*129G>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914951	NM_014694.4(ADAMTSL2):c.*98C>T	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914950	NM_014694.4(ADAMTSL2):c.2849A>G (p.His950Arg)	ADAMTSL2 (H950R)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914949	NM_014694.4(ADAMTSL2):c.2799C>T (p.Cys933=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914948	NM_014694.4(ADAMTSL2):c.2737+13G>A	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914904	NM_014694.4(ADAMTSL2):c.2007C>T (p.Ala669=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1 +1 more	GConflicting classifications of pathogenicity
Select item 914903	NM_014694.4(ADAMTSL2):c.1936G>A (p.Val646Ile)	ADAMTSL2 (V646I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914902	NM_014694.4(ADAMTSL2):c.1911C>T (p.Thr637=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914901	NM_014694.4(ADAMTSL2):c.1815C>T (p.Asp605=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914900	NM_014694.4(ADAMTSL2):c.1764C>T (p.Tyr588=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914899	NM_014694.4(ADAMTSL2):c.1719C>T (p.His573=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914898	NM_014694.4(ADAMTSL2):c.1713G>A (p.Ser571=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914848	NM_014694.4(ADAMTSL2):c.1042G>C (p.Glu348Gln)	ADAMTSL2 (E348Q)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914847	NM_014694.4(ADAMTSL2):c.999G>A (p.Pro333=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914846	NM_014694.4(ADAMTSL2):c.987G>A (p.Thr329=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914845	NM_014694.4(ADAMTSL2):c.979G>A (p.Glu327Lys)	ADAMTSL2 (E327K)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914482	NM_014694.4(ADAMTSL2):c.*632A>G	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914434	NM_014694.4(ADAMTSL2):c.2653G>A (p.Asp885Asn)	ADAMTSL2 (D885N)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914433	NM_014694.4(ADAMTSL2):c.2631C>T (p.Asp877=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914432	NM_014694.4(ADAMTSL2):c.2597C>T (p.Thr866Ile)	ADAMTSL2 (T866I)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914431	NM_014694.4(ADAMTSL2):c.2551G>A (p.Glu851Lys)	ADAMTSL2 (E851K)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914430	NM_014694.4(ADAMTSL2):c.2533G>A (p.Glu845Lys)	ADAMTSL2 (E845K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 914429	NM_014694.4(ADAMTSL2):c.2532C>T (p.Pro844=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914391	NM_014694.4(ADAMTSL2):c.1626C>T (p.Ala542=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914390	NM_014694.4(ADAMTSL2):c.1623G>A (p.Ser541=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914389	NM_014694.4(ADAMTSL2):c.1320C>T (p.Asp440=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914388	NM_014694.4(ADAMTSL2):c.1283A>G (p.Asn428Ser)	ADAMTSL2 (N428S)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914353	NM_014694.4(ADAMTSL2):c.912G>A (p.Gly304=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914352	NM_014694.4(ADAMTSL2):c.885C>T (p.Thr295=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 914351	NM_014694.4(ADAMTSL2):c.804C>T (p.Asn268=)	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)	Geleophysic dysplasia 1 +1 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 914315	NM_014694.4(ADAMTSL2):c.-90G>C	ADAMTSL2	Single nucleotide variant (5 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
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 913362	NM_014694.4(ADAMTSL2):c.*483A>C	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 913361	NM_014694.4(ADAMTSL2):c.*424G>T	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 913360	NM_014694.4(ADAMTSL2):c.*331G>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 913310	NM_014694.4(ADAMTSL2):c.2469G>A (p.Glu823=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
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 913275	NM_014694.4(ADAMTSL2):c.1274G>A (p.Arg425Gln)	ADAMTSL2 (R425Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 913274	NM_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser)	ADAMTSL2 (G421S)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1 +3 more	GConflicting classifications of pathogenicity
Select item 913273	NM_014694.4(ADAMTSL2):c.1257C>T (p.Pro419=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 913272	NM_014694.4(ADAMTSL2):c.1222G>A (p.Glu408Lys)	ADAMTSL2 (E408K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 913234	NM_014694.4(ADAMTSL2):c.798C>T (p.Asn266=)	ADAMTSL2	Single nucleotide variant (synonymous 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 913232	NM_014694.4(ADAMTSL2):c.708G>A (p.Pro236=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 912997	NM_014694.4(ADAMTSL2):c.*304C>G	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 912996	NM_014694.4(ADAMTSL2):c.*291C>T	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
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 912946	NM_014694.4(ADAMTSL2):c.2089-4C>A	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 912945	NM_014694.4(ADAMTSL2):c.2089-7G>A	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 912944	NM_014694.4(ADAMTSL2):c.2036C>G (p.Thr679Ser)	ADAMTSL2 (T679S)	Single nucleotide variant (missense variant)	ADAMTSL2-related disorder +2 more	GUncertain significance
Select item 912905	NM_014694.4(ADAMTSL2):c.1213G>A (p.Glu405Lys)	ADAMTSL2 (E405K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 912904	NM_014694.4(ADAMTSL2):c.1151G>A (p.Arg384Gln)	ADAMTSL2 (R384Q)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 912903	NM_014694.4(ADAMTSL2):c.1137G>A (p.Leu379=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 912902	NM_014694.4(ADAMTSL2):c.1113C>T (p.Tyr371=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	Geleophysic dysplasia 1	GUncertain significance
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 912900	NM_014694.4(ADAMTSL2):c.1068C>T (p.Asp356=)	ADAMTSL2	Single nucleotide variant (synonymous 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 912859	NM_014694.4(ADAMTSL2):c.682+10A>G	ADAMTSL2	Single nucleotide variant (intron variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 912858	NM_014694.4(ADAMTSL2):c.651G>A (p.Thr217=)	ADAMTSL2	Single nucleotide variant (synonymous variant)	ADAMTSL2-related disorder +1 more	GConflicting classifications of pathogenicity
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 912856	NM_014694.4(ADAMTSL2):c.541G>A (p.Val181Met)	ADAMTSL2 (V181M)	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 disorder +1 more	GConflicting classifications of pathogenicity
Select item 680519	NM_014694.4(ADAMTSL2):c.683-135A>G	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)	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 680461	NM_014694.4(ADAMTSL2):c.-150-79A>C	ADAMTSL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 624558	NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn)	ADAMTSL2 (D167N)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1 +1 more	GPathogenic
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 524194	NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr)	ADAMTSL2 (A165T)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1	GUncertain significance
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 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 427943	NM_014694.4(ADAMTSL2):c.234-2A>G	ADAMTSL2	Single nucleotide variant (splice acceptor variant)	Geleophysic dysplasia 1	GPathogenic
Select item 365629	NM_014694.4(ADAMTSL2):c.*635G>T	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365628	NM_014694.4(ADAMTSL2):c.*622C>G	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365627	NM_014694.4(ADAMTSL2):c.*610G>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365626	NM_014694.4(ADAMTSL2):c.*609C>T	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365625	NM_014694.4(ADAMTSL2):c.*595G>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365624	NM_014694.4(ADAMTSL2):c.*577G>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365623	NM_014694.4(ADAMTSL2):c.*566G>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365622	NM_014694.4(ADAMTSL2):c.*496C>T	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365621	NM_014694.4(ADAMTSL2):c.*490C>T	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance
Select item 365620	NM_014694.4(ADAMTSL2):c.*376G>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GBenign
Select item 365618	NM_014694.4(ADAMTSL2):c.*280C>A	ADAMTSL2	Single nucleotide variant (3 prime UTR variant)	Geleophysic dysplasia 1	GUncertain significance

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