ClinVar for MedGen (Select 120642) - ClinVar

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Items: 70

	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 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 2720176	NM_003124.5(SPR):c.715C>T (p.Gln239Ter)	SPR (Q239*)	Single nucleotide variant (nonsense)	Dystonic disorder +1 more	GPathogenic
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 2627381	NM_003124.5(SPR):c.560A>G (p.Glu187Gly)	SPR (E187G)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GLikely pathogenic
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 2436316	NM_003124.5(SPR):c.616C>T (p.Gln206Ter)	SPR (Q206*)	Single nucleotide variant (nonsense)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more	GConflicting classifications of pathogenicity
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 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 1332715	NM_003124.5(SPR):c.262C>T (p.Arg88Trp)	SPR (R88W)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more	GConflicting classifications of pathogenicity
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 1162323	NM_003124.5(SPR):c.512G>A (p.Cys171Tyr)	SPR (C171Y)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more	GLikely pathogenic
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 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 898837	NM_003124.5(SPR):c.477T>C (p.Cys159=)	SPR	Single nucleotide variant (synonymous variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 898836	NM_003124.5(SPR):c.305-12T>C	SPR	Single nucleotide variant (intron variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more	GConflicting classifications of pathogenicity
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 897747	NM_003124.5(SPR):c.*607A>C	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	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 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 896149	NM_003124.5(SPR):c.*575G>A	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 896148	NM_003124.5(SPR):c.*432G>A	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GBenign
Select item 896147	NM_003124.5(SPR):c.*377G>A	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 896146	NM_003124.5(SPR):c.*233G>A	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 895875	NM_003124.5(SPR):c.596-4C>G	SPR	Single nucleotide variant (intron variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 895874	NM_003124.5(SPR):c.595+7G>A	SPR	Single nucleotide variant (intron variant)	Dystonic disorder +1 more	GConflicting classifications of pathogenicity
Select item 895873	NM_003124.5(SPR):c.556C>G (p.Leu186Val)	SPR (L186V)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 895872	NM_003124.5(SPR):c.536T>C (p.Met179Thr)	SPR (M179T)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GUncertain significance
Select item 895871	NM_003124.5(SPR):c.486A>G (p.Gln162=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 more	GConflicting classifications of pathogenicity
Select item 863750	NM_003124.5(SPR):c.308C>G (p.Ser103Cys)	SPR (S103C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 807499	NM_003124.5(SPR):c.524C>A (p.Ala175Asp)	SPR (A175D)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more	GConflicting classifications of pathogenicity
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 664157	NM_003124.5(SPR):c.381C>G (p.Asn127Lys)	SPR (N127K)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 660797	NM_003124.5(SPR):c.706G>A (p.Val236Met)	SPR (V236M)	Single nucleotide variant (missense variant)	Dystonic disorder +3 more	GConflicting classifications of pathogenicity
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 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 574213	NM_003124.5(SPR):c.654G>A (p.Met218Ile)	SPR (M218I)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	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 522878	NM_003124.4(SPR):c.596del	SPR	Deletion	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GPathogenic
Select item 455979	NM_003124.5(SPR):c.328G>C (p.Gly110Arg)	SPR (G110R)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GUncertain significance
Select item 412652	NM_003124.5(SPR):c.785A>G (p.Ter262=)	SPR	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 336998	NM_003124.5(SPR):c.*597C>A	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 336997	NM_003124.5(SPR):c.*410C>G	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 336996	NM_003124.5(SPR):c.*400C>T	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 336995	NM_003124.5(SPR):c.*321G>C	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 336993	NM_003124.5(SPR):c.*108G>A	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 336992	NM_003124.5(SPR):c.*50C>T	SPR	Single nucleotide variant (3 prime UTR variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GUncertain significance
Select item 336991	NM_003124.5(SPR):c.380A>G (p.Asn127Ser)	SPR (N127S)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more	GUncertain significance
Select item 336990	NM_003124.5(SPR):c.369C>T (p.Tyr123=)	SPR	Single nucleotide variant (synonymous variant)	Dystonic disorder +1 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 +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 235551	NM_003124.5(SPR):c.655C>T (p.Arg219Ter)	SPR (R219*)	Single nucleotide variant (nonsense)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more	GPathogenic
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 39869	NM_003124.5(SPR):c.596-2A>G	SPR	Single nucleotide variant (splice acceptor 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 12944	NM_003124.5(SPR):c.751A>T (p.Lys251Ter)	SPR (K251*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 12943	NM_003124.5(SPR):c.488C>T (p.Pro163Leu)	SPR (P163L)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GPathogenic
Select item 12942	NM_003124.5(SPR):c.-13G>A	LOC129934069, SPR	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 12941	NM_003124.5(SPR):c.448A>G (p.Arg150Gly)	SPR (R150G)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 12940	NM_003124.5(SPR):c.448_452del (p.Thr151fs)	SPR (T151fs)	Deletion (frameshift variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GPathogenic
Select item 12939	NM_003124.5(SPR):c.355C>T (p.Gln119Ter)	SPR (Q119*)	Single nucleotide variant (nonsense)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GPathogenic

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Items: 70