Related gene-specific medical variations for Gene (Select 6697) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362269	NM_003124.5(SPR):c.86C>A (p.Ser29Ter)	SPR (S29*)	Single nucleotide variant (nonsense)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 3255615	NM_003124.5(SPR):c.43del (p.Ala15fs)	LOC129934069, SPR (A15fs)	Deletion (frameshift variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GLikely pathogenic
Select item 3169361	NM_003124.5(SPR):c.83C>A (p.Ala28Asp)	LOC129934069, SPR (A28D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3016636	NM_003124.5(SPR):c.66G>A (p.Thr22=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
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 2988240	NM_003124.5(SPR):c.99C>G (p.Pro33=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
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 2966261	NM_003124.5(SPR):c.43dup (p.Ala15fs)	SPR, LOC129934069 (A15fs)	Duplication (frameshift variant)	Dystonic disorder	GPathogenic
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 2918800	NM_003124.5(SPR):c.9C>T (p.Gly3=)	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 2893924	NM_003124.5(SPR):c.216C>G (p.Ala72=)	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 2866367	NM_003124.5(SPR):c.204C>A (p.Ala68=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 2852342	NM_003124.5(SPR):c.11_20dup (p.Val9fs)	LOC129934069, SPR (V9fs)	Duplication (frameshift variant)	Dystonic disorder	GPathogenic
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 2839051	NM_003124.5(SPR):c.24T>G (p.Ala8=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
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 2781601	NM_003124.5(SPR):c.156C>G (p.Ala52=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
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 2770441	NM_003124.5(SPR):c.213C>T (p.Gly71=)	SPR, LOC129934069	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
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 2740848	NM_003124.5(SPR):c.105C>T (p.Ser35=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
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 2725606	NM_003124.5(SPR):c.99C>T (p.Pro33=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
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 2690071	NM_003124.5(SPR):c.307T>C (p.Ser103Pro)	SPR (S103P)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
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 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 2502833	NM_003124.5(SPR):c.370T>C (p.Trp124Arg)	SPR (W124R)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 2502832	NM_003124.5(SPR):c.631del (p.Glu211fs)	SPR (E211fs)	Deletion (frameshift variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GLikely pathogenic
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 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 2194495	NM_003124.5(SPR):c.197T>A (p.Val66Glu)	LOC129934069, SPR (V66E)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
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 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 2155396	NM_003124.5(SPR):c.39C>T (p.Thr13=)	SPR, LOC129934069	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 2136044	NM_003124.5(SPR):c.4G>T (p.Glu2Ter)	LOC129934069, SPR (E2*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 1944365	NM_003124.5(SPR):c.74C>G (p.Pro25Arg)	LOC129934069, SPR (P25R)	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 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 1567330	NM_003124.5(SPR):c.168C>T (p.Ala56=)	LOC129934069, SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder	GLikely benign
Select item 1509544	NM_003124.5(SPR):c.-12_-10del	LOC129934069, SPR	Deletion (5 prime UTR variant)	Dystonic disorder	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 1428836	NM_003124.5(SPR):c.50G>T (p.Arg17Leu)	LOC129934069, SPR (R17L)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
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 1352338	NM_003124.5(SPR):c.11G>T (p.Gly4Val)	LOC129934069, SPR (G4V)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
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 1323647	NM_003124.5(SPR):c.544C>T (p.Gln182Ter)	SPR (Q182*)	Single nucleotide variant (nonsense)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GPathogenic
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 1161324	NM_003124.5(SPR):c.67C>T (p.Leu23=)	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 1126692	NM_003124.5(SPR):c.78C>T (p.Leu26=)	SPR, LOC129934069	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 932054	NM_003124.5(SPR):c.497G>A (p.Gly166Asp)	SPR (G166D)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 931100	NM_003124.5(SPR):c.610G>C (p.Asp204His)	SPR (D204H)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	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 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 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 848713	NM_003124.5(SPR):c.157G>C (p.Glu53Gln)	LOC129934069, SPR (E53Q)	Single nucleotide variant (missense variant)	Dystonic disorder	GUncertain significance
Select item 808769	NM_003124.5(SPR):c.517G>T (p.Gly173Ter)	SPR (G173*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 808768	NM_003124.5(SPR):c.511T>C (p.Cys171Arg)	SPR (C171R)	Single nucleotide variant (missense variant)	not provided	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 793084	NM_003124.5(SPR):c.96G>T (p.Ser32=)	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 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 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 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 566802	NM_003124.5(SPR):c.207C>G (p.Asp69Glu)	LOC129934069, SPR (D69E)	Single nucleotide variant (missense variant)	not provided +2 more	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 522878	NM_003124.4(SPR):c.596del	SPR	Deletion	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GPathogenic
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 336989	NM_003124.5(SPR):c.115C>T (p.Leu39Phe)	LOC129934069, SPR (L39F)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GUncertain significance
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 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 239509	NM_003124.5(SPR):c.112G>A (p.Val38Ile)	LOC129934069, SPR (V38I)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +3 more	GConflicting classifications of pathogenicity
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 12942	NM_003124.5(SPR):c.-13G>A	LOC129934069, SPR	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance

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Items: 81