ClinVar for MedGen (Select 120642) - ClinVar

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

Links from MedGen

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Dystonic disorder +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)	Dystonic disorder +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)	Dystonic disorder +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)	Dystonic disorder +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)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 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)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +2 more	GUncertain significance
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 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)	Dystonic disorder +1 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)	not provided +2 more	GUncertain significance
Select item 336990	NM_003124.5(SPR):c.369C>T (p.Tyr123=)	SPR	Single nucleotide variant (synonymous variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +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 +1 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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 235551	NM_003124.5(SPR):c.655C>T (p.Arg219Ter)	SPR (R219*)	Single nucleotide variant (nonsense)	Dystonic disorder +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)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +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)	Dopa-responsive dystonia due to sepiapterin reductase deficiency	GPathogenic
Select item 12941	NM_003124.5(SPR):c.448A>G (p.Arg150Gly)	SPR (R150G)	Single nucleotide variant (missense variant)	Dopa-responsive dystonia due to sepiapterin reductase deficiency +3 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 67