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Links from MedGen

Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPR
(S103P)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
LOC129934069, SPR
(C10R)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
(E187G)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GLikely pathogenic
LOC129934069, SPR
(G14R)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
(W124R)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
(E211fs)
Deletion
(frameshift variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GLikely pathogenic
SPR
(Q206*)
Single nucleotide variant
(nonsense)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
LOC129934069, SPR
(M1L)
Single nucleotide variant
(missense variant +1 more)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GLikely pathogenic
LOC129934069, SPR
(G4R)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
(R88W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SPR
(Q182*)
Single nucleotide variant
(nonsense)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GPathogenic
LOC129934069, SPR
(F19L)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
(C171Y)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GLikely pathogenic
SPR
Deletion
(splice donor variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GPathogenic
SPR
(G166D)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
(D204H)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(synonymous variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC129934069, SPR
Single nucleotide variant
(synonymous variant)
Dystonic disorder
+1 more
GConflicting classifications of pathogenicity
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
LOC129934069, SPR
(A8V)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
+1 more
GUncertain significance
SPR, LOC129934069
Single nucleotide variant
(5 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GBenign
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(intron variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(intron variant)
Dystonic disorder
+1 more
GConflicting classifications of pathogenicity
SPR
(L186V)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
(M179T)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GUncertain significance
SPR
Single nucleotide variant
(synonymous variant)
Dystonic disorder
+1 more
GConflicting classifications of pathogenicity
SPR
(S103C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SPR
(A175D)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
+1 more
GConflicting classifications of pathogenicity
LOC129934069, SPR
(R7fs)
Insertion
(frameshift variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GLikely pathogenic
SPR
(N127K)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
+1 more
GConflicting classifications of pathogenicity
SPR
(V236M)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GUncertain significance
LOC129934069, SPR
(G6R)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
+1 more
GUncertain significance
LOC129934069, SPR
(L27P)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
(I98del)
Deletion
(inframe_deletion)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
(M218I)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
+1 more
GUncertain significance
LOC129934069, SPR
(D69E)
Single nucleotide variant
(missense variant)
Dystonic disorder
+2 more
GUncertain significance
SPR
Deletion
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GPathogenic
SPR
(G110R)
Single nucleotide variant
(missense variant)
Dystonic disorder
+2 more
GUncertain significance
SPR
Single nucleotide variant
(synonymous variant)
Dystonic disorder
+1 more
GBenign
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(3 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
(N127S)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GUncertain significance
SPR
Single nucleotide variant
(synonymous variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
+1 more
GConflicting classifications of pathogenicity
LOC129934069, SPR
(L39F)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GUncertain significance
LOC129934069, SPR
Single nucleotide variant
(synonymous variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
+1 more
GConflicting classifications of pathogenicity
LOC129934069, SPR
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
LOC129934069, SPR
(V38I)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
+3 more
GConflicting classifications of pathogenicity
SPR
(R219*)
Single nucleotide variant
(nonsense)
Dystonic disorder
+2 more
GPathogenic
LOC129934069, SPR
(V36M)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GUncertain significance
SPR
Single nucleotide variant
(splice acceptor variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GPathogenic
SPR
(G102C)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GPathogenic
SPR
(K251*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SPR
(P163L)
Single nucleotide variant
(missense variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GPathogenic
LOC129934069, SPR
Single nucleotide variant
(5 prime UTR variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GPathogenic
SPR
(R150G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
SPR
(T151fs)
Deletion
(frameshift variant)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GPathogenic
SPR
(Q119*)
Single nucleotide variant
(nonsense)
Dopa-responsive dystonia due to sepiapterin reductase deficiency
GPathogenic
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