C0013421[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208722	NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)	GNB1 (I80T)	Single nucleotide variant (5 prime UTR variant +1 more)	Global developmental delay +7 more	GPathogenic/Likely pathogenic
Select item 198543	NM_006516.4(SLC2A1):c.972+7del	SLC2A1	Deletion (intron variant)	Dystonic disorder +4 more	GConflicting classifications of pathogenicity
Select item 1167479	NC_000002.12:g.72887223A>C	SPR	Single nucleotide variant	Dystonic disorder +1 more	GBenign
Select item 1509544	NM_003124.5(SPR):c.-12_-10del	LOC129934069, SPR	Deletion (5 prime UTR variant)	Dystonic disorder	GUncertain significance
Select item 2852342	NM_003124.5(SPR):c.11_20dup (p.Val9fs)	LOC129934069, SPR (V9fs)	Duplication (frameshift variant)	Dystonic disorder	GPathogenic
Select item 2773253	NM_003124.5(SPR):c.6G>A (p.Glu2=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2918800	NM_003124.5(SPR):c.9C>T (p.Gly3=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1352338	NM_003124.5(SPR):c.11G>T (p.Gly4Val)	LOC129934069, SPR (G4V)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 2990953	NM_003124.5(SPR):c.15G>A (p.Leu5=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 646415	NM_003124.5(SPR):c.16G>C (p.Gly6Arg)	LOC129934069, SPR (G6R)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more	GUncertain significance
Select item 897672	NM_003124.5(SPR):c.23C>T (p.Ala8Val)	LOC129934069, SPR (A8V)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more	GUncertain significance
Select item 2839051	NM_003124.5(SPR):c.24T>G (p.Ala8=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2876243	NM_003124.5(SPR):c.27G>A (p.Val9=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2419965	NM_003124.5(SPR):c.38C>T (p.Thr13Ile)	LOC129934069, SPR (T13I)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2966261	NM_003124.5(SPR):c.43dup (p.Ala15fs)	SPR, LOC129934069 (A15fs)	Duplication (frameshift variant)	Dystonic disorder	GPathogenic
Select item 2155396	NM_003124.5(SPR):c.39C>T (p.Thr13=)	SPR, LOC129934069	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2089313	NM_003124.5(SPR):c.39C>G (p.Thr13=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1482262	NM_003124.5(SPR):c.41G>T (p.Gly14Val)	LOC129934069, SPR (G14V)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1906735	NM_003124.5(SPR):c.42G>A (p.Gly14=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1428836	NM_003124.5(SPR):c.50G>T (p.Arg17Leu)	LOC129934069, SPR (R17L)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2977977	NM_003124.5(SPR):c.54C>T (p.Gly18=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1147661	NM_003124.5(SPR):c.57C>T (p.Phe19=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 3016636	NM_003124.5(SPR):c.66G>A (p.Thr22=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2148663	NM_003124.5(SPR):c.66_67delinsTA (p.Leu23Met)	LOC129934069, SPR (L23M)	Indel (missense variant)	Dystonic disorder	GUncertain significance
Select item 1161324	NM_003124.5(SPR):c.67C>T (p.Leu23=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1944365	NM_003124.5(SPR):c.74C>G (p.Pro25Arg)	LOC129934069, SPR (P25R)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2820368	NM_003124.5(SPR):c.75G>A (p.Pro25=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 956364	NM_003124.5(SPR):c.77T>A (p.Leu26His)	LOC129934069, SPR (L26H)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1126692	NM_003124.5(SPR):c.78C>T (p.Leu26=)	SPR, LOC129934069	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 703178	NM_003124.5(SPR):c.78C>G (p.Leu26=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 526225	NM_003124.5(SPR):c.84C>G (p.Ala28=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 336988	NM_003124.5(SPR):c.87G>C (p.Ser29=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2919441	NM_003124.5(SPR):c.88C>T (p.Leu30=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 793084	NM_003124.5(SPR):c.96G>T (p.Ser32=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2988240	NM_003124.5(SPR):c.99C>G (p.Pro33=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2725606	NM_003124.5(SPR):c.99C>T (p.Pro33=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2157021	NM_003124.5(SPR):c.104C>T (p.Ser35Phe)	LOC129934069, SPR (S35F)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 2740848	NM_003124.5(SPR):c.105C>T (p.Ser35=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 239509	NM_003124.5(SPR):c.112G>A (p.Val38Ile)	LOC129934069, SPR (V38I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 336989	NM_003124.5(SPR):c.115C>T (p.Leu39Phe)	LOC129934069, SPR (L39F)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more	GUncertain significance
Select item 898835	NM_003124.5(SPR):c.120C>T (p.Ser40=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 more	GConflicting classifications of pathogenicity
Select item 2165943	NM_003124.5(SPR):c.125G>T (p.Arg42Leu)	LOC129934069, SPR (R42L)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2729585	NM_003124.5(SPR):c.126C>T (p.Arg42=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2915142	NM_003124.5(SPR):c.138A>G (p.Ala46=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2851658	NM_003124.5(SPR):c.144C>G (p.Arg48=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1385110	NM_003124.5(SPR):c.145C>G (p.Gln49Glu)	LOC129934069, SPR (Q49E)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2768983	NM_003124.5(SPR):c.150G>A (p.Leu50=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2781601	NM_003124.5(SPR):c.156C>G (p.Ala52=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 848713	NM_003124.5(SPR):c.157G>C (p.Glu53Gln)	LOC129934069, SPR (E53Q)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 793147	NM_003124.5(SPR):c.162G>A (p.Leu54=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1567330	NM_003124.5(SPR):c.168C>T (p.Ala56=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 444505	NM_003124.5(SPR):c.193C>T (p.Arg65Trp)	LOC129934069, SPR (R65W)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 2194495	NM_003124.5(SPR):c.197T>A (p.Val66Glu)	LOC129934069, SPR (V66E)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2716498	NM_003124.5(SPR):c.201C>T (p.Pro67=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2866367	NM_003124.5(SPR):c.204C>A (p.Ala68=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 566802	NM_003124.5(SPR):c.207C>G (p.Asp69Glu)	LOC129934069, SPR (D69E)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more	GUncertain significance
Select item 2770441	NM_003124.5(SPR):c.213C>T (p.Gly71=)	SPR, LOC129934069	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2893924	NM_003124.5(SPR):c.216C>G (p.Ala72=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2919987	NM_003124.5(SPR):c.228G>A (p.Leu76=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2883796	NM_003124.5(SPR):c.240C>T (p.Leu80=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1046601	NM_003124.5(SPR):c.243C>T (p.Gly81=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 999238	NM_003124.5(SPR):c.244G>A (p.Ala82Thr)	SPR (A82T)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1541604	NM_003124.5(SPR):c.247C>T (p.Leu83=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2867922	NM_003124.5(SPR):c.249G>C (p.Leu83=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2708616	NM_003124.5(SPR):c.252C>T (p.Arg84=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2988078	NM_003124.5(SPR):c.258C>T (p.Leu86=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2760535	NM_003124.5(SPR):c.262del (p.Arg88fs)	SPR (R88fs)	Deletion (frameshift variant)	Dystonic disorder	GPathogenic
Select item 957063	NM_003124.5(SPR):c.259C>A (p.Pro87Thr)	SPR (P87T)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1438587	NM_003124.5(SPR):c.260C>G (p.Pro87Arg)	SPR (P87R)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2887591	NM_003124.5(SPR):c.261C>G (p.Pro87=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1026444	NM_003124.5(SPR):c.263G>A (p.Arg88Gln)	SPR (R88Q)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1106250	NM_003124.5(SPR):c.264G>A (p.Arg88=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 569621	NM_003124.5(SPR):c.266C>T (p.Pro89Leu)	SPR (P89L)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GUncertain significance
Select item 2899341	NM_003124.5(SPR):c.273G>T (p.Gly91=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2165411	NM_003124.5(SPR):c.277C>T (p.Gln93Ter)	SPR (Q93*)	Single nucleotide variant (nonsense)	Dystonic disorder	GPathogenic
Select item 2989481	NM_003124.5(SPR):c.280C>A (p.Arg94=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 643639	NM_003124.5(SPR):c.283C>G (p.Leu95Val)	SPR (L95V)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 2834977	NM_003124.5(SPR):c.285G>A (p.Leu95=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2725787	NM_003124.5(SPR):c.297C>T (p.Asn99=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1803558	NM_003124.5(SPR):c.304+5G>C	SPR	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2878848	NM_003124.5(SPR):c.304+10C>T	SPR	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2817272	NM_003124.5(SPR):c.304+11G>A	SPR	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2045260	NM_003124.5(SPR):c.304+13G>A	SPR	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1417120	NM_003124.5(SPR):c.304+13G>T	SPR	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2715761	NM_003124.5(SPR):c.304+16T>C	SPR	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2898641	NM_003124.5(SPR):c.305-19C>T	SPR	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2062511	NM_003124.5(SPR):c.305-18T>G	SPR	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 2009053	NM_003124.5(SPR):c.305-18T>C	SPR	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1570529	NM_003124.5(SPR):c.305-17A>G	SPR	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 1591067	NM_003124.5(SPR):c.305-14G>A	SPR	Single nucleotide variant (intron variant)	Dystonic disorder	GLikely benign
Select item 898836	NM_003124.5(SPR):c.305-12T>C	SPR	Single nucleotide variant (intron variant)	Dystonic disorder +2 more	GConflicting classifications of pathogenicity
Select item 2966189	NM_003124.5(SPR):c.306C>T (p.Gly102=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 863750	NM_003124.5(SPR):c.308C>G (p.Ser103Cys)	SPR (S103C)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GUncertain significance
Select item 856279	NM_003124.5(SPR):c.311T>C (p.Leu104Pro)	SPR (L104P)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 1547470	NM_003124.5(SPR):c.315G>A (p.Gly105=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 455979	NM_003124.5(SPR):c.328G>C (p.Gly110Arg)	SPR (G110R)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more	GUncertain significance
Select item 2718500	NM_003124.5(SPR):c.336G>A (p.Val112=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2735523	NM_003124.5(SPR):c.351C>T (p.Ser117=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 3004777	NM_003124.5(SPR):c.354T>A (p.Thr118=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2745178	NM_003124.5(SPR):c.356A>C (p.Gln119Pro)	SPR (Q119P)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance

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