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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TOR1A
Deletion
(inframe_deletion)
Dystonia, early-onset atypical, with myoclonic features
GUncertain significance
TOR1A
(R312fs)
Microsatellite
(frameshift variant)
Early-onset generalized limb-onset dystonia
Gnot provided
TOR1A
(E303del)
Microsatellite
(inframe_deletion)
TOR1A-related condition
+6 more
GPathogenic/Likely pathogenic
TOR1A
(R288Q)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GPathogenic/Likely pathogenic
TOR1A
(D216H)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
TOR1A
(F205I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TOR1A
(D194V)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
Gnot provided
TOR1A
(V129I)
Single nucleotide variant
(missense variant)
Arthrogryposis multiplex congenita 5
+1 more
GUncertain significance
TOR1A
(E121K)
Single nucleotide variant
(missense variant)
Dystonic disorder
+1 more
GConflicting classifications of pathogenicity
LOC130002772, TOR1A
Deletion
(inframe_deletion)
Early-onset generalized limb-onset dystonia
Gnot provided
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