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Links from MedGen

Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TOR1A
(K309N)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 5
+1 more
GLikely benign
TOR1A
(W154*)
Single nucleotide variant
(nonsense)
Early-onset generalized limb-onset dystonia
GPathogenic
TOR1A
(K320E)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
GPathogenic
TOR1A
(Q72*)
Single nucleotide variant
(nonsense)
Early-onset generalized limb-onset dystonia
GPathogenic
TOR1A
Single nucleotide variant
(intron variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Single nucleotide variant
(synonymous variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
(I236T)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(intron variant)
Early-onset generalized limb-onset dystonia
+1 more
GLikely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
(T321M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
+1 more
GBenign/Likely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
(F169S)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(synonymous variant)
Dystonic disorder
+2 more
GBenign/Likely benign
TOR1A
(K275E)
Single nucleotide variant
(missense variant)
Dystonic disorder
+3 more
GConflicting classifications of pathogenicity
TOR1A
(R288*)
Single nucleotide variant
(nonsense)
Early-onset generalized limb-onset dystonia
+2 more
GPathogenic/Likely pathogenic
TOR1A
(A163V)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
+2 more
GBenign/Likely benign
LOC130002772, TOR1A
Single nucleotide variant
not provided
+1 more
GBenign/Likely benign
LOC130002772, TOR1A
Single nucleotide variant
(5 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
LOC130002772, TOR1A
Single nucleotide variant
(5 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
LOC130002772, TOR1A
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
LOC130002772, TOR1A
(G9A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TOR1A
Single nucleotide variant
(synonymous variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Dystonic disorder
+2 more
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Deletion
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Insertion
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Deletion
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Deletion
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GLikely benign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Microsatellite
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GBenign
TOR1A
Single nucleotide variant
(3 prime UTR variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
(D194V)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
Gnot provided
TOR1A
(V129I)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
+1 more
GUncertain significance
TOR1A
(E121K)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GConflicting classifications of pathogenicity
TOR1A, LOC130002772
Deletion
(inframe_deletion)
Early-onset generalized limb-onset dystonia
Gnot provided
TOR1A
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
TOR1A
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
TOR1A
(R288Q)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GPathogenic/Likely pathogenic
TOR1A
(R312fs)
Microsatellite
(frameshift variant)
Early-onset generalized limb-onset dystonia
Gnot provided
TOR1A
(F205I)
Single nucleotide variant
(missense variant)
Dystonic disorder
+3 more
GConflicting classifications of pathogenicity
TOR1A
(D216H)
Single nucleotide variant
(missense variant)
Dystonic disorder
+4 more
GBenign
TOR1A
Deletion
(inframe_deletion)
Dystonia, early-onset atypical, with myoclonic features
GUncertain significance
TOR1A
(E303del)
Microsatellite
(inframe_deletion)
not provided
+6 more
GPathogenic/Likely pathogenic
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