SPR[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 269

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 60181	GRCh38/hg38 2p13.2(chr2:72861062-72992130)x1	EMX1, LOC110120967 +9 more	Copy number loss	See cases	GPathogenic
Select item 1167479	NC_000002.12:g.72887223A>C	SPR	Single nucleotide variant	not provided +1 more	GBenign
Select item 336986	NM_003124.4(SPR):c.-40C>G	LOC129934069, SPR	Single nucleotide variant	Dopa-responsive dystonia	GUncertain significance
Select item 1509544	NM_003124.5(SPR):c.-12_-10del	LOC129934069, SPR	Deletion (5 prime UTR variant)	Dystonic disorder	GUncertain significance
Select item 12942	NM_003124.5(SPR):c.-13G>A	LOC129934069, SPR	Single nucleotide variant (5 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GPathogenic
Select item 336987	NM_003124.5(SPR):c.-7C>G	LOC129934069, SPR	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 897671	NM_003124.5(SPR):c.-4G>C	SPR, LOC129934069	Single nucleotide variant (5 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 3065103	NM_003124.5(SPR):c.1A>G (p.Met1Val)	LOC129934069, SPR (M1V)	Single nucleotide variant (missense variant +1 more)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GLikely pathogenic
Select item 1698420	NM_003124.5(SPR):c.1A>C (p.Met1Leu)	LOC129934069, SPR (M1L)	Single nucleotide variant (missense variant +1 more)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GLikely pathogenic
Select item 2136044	NM_003124.5(SPR):c.4G>T (p.Glu2Ter)	LOC129934069, SPR (E2*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 1341840	NM_003124.5(SPR):c.10G>A (p.Gly4Arg)	LOC129934069, SPR (G4R)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 1352338	NM_003124.5(SPR):c.11G>T (p.Gly4Val)	LOC129934069, SPR (G4V)	Single nucleotide variant (missense variant)	Dystonic disorder	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 666329	NM_003124.5(SPR):c.18_19insGGGCGGGCTG (p.Arg7fs)	LOC129934069, SPR (R7fs)	Insertion (frameshift variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GLikely pathogenic
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 2664818	NM_003124.5(SPR):c.28T>C (p.Cys10Arg)	LOC129934069, SPR (C10R)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
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)	LOC129934069, SPR (A15fs)	Duplication (frameshift variant)	Dystonic disorder	GPathogenic
Select item 2155396	NM_003124.5(SPR):c.39C>T (p.Thr13=)	LOC129934069, SPR	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 2585437	NM_003124.5(SPR):c.40G>C (p.Gly14Arg)	LOC129934069, SPR (G14R)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
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 1251966	NM_003124.5(SPR):c.57C>G (p.Phe19Leu)	LOC129934069, SPR (F19L)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
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=)	LOC129934069, SPR	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 635029	NM_003124.5(SPR):c.80T>C (p.Leu27Pro)	SPR, LOC129934069 (L27P)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
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)	Dystonic disorder +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=)	SPR, LOC129934069	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)	Inborn genetic diseases +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 224123	NM_003124.5(SPR):c.106G>A (p.Val36Met)	LOC129934069, SPR (V36M)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 239509	NM_003124.5(SPR):c.112G>A (p.Val38Ile)	SPR, LOC129934069 (V38I)	Single nucleotide variant (missense variant)	Dystonic disorder +4 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)	Dystonic disorder +1 more	GUncertain significance
Select item 898835	NM_003124.5(SPR):c.120C>T (p.Ser40=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +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 2271864	NM_003124.5(SPR):c.130G>C (p.Asp44His)	LOC129934069, SPR (D44H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	not provided +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)	Dystonic disorder +2 more	GUncertain significance
Select item 2770441	NM_003124.5(SPR):c.213C>T (p.Gly71=)	LOC129934069, SPR	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 +1 more	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 1332715	NM_003124.5(SPR):c.262C>T (p.Arg88Trp)	SPR (R88W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 +1 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 590838	NM_003124.5(SPR):c.291_293del (p.Ile98del)	SPR (I98del)	Deletion (inframe_deletion)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 2725787	NM_003124.5(SPR):c.297C>T (p.Asn99=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1162322	NM_003124.5(SPR):c.304+2_304+13del	SPR	Deletion (splice donor variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GPathogenic
Select item 31917	NM_003124.5(SPR):c.304G>T (p.Gly102Cys)	SPR (G102C)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GPathogenic
Select item 1803558	NM_003124.5(SPR):c.304+5G>C	SPR	Single nucleotide variant (intron variant)	Dystonic disorder +1 more	GUncertain significance

<< First< Prev

Page of 3