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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TOR1A
(E303del)
Microsatellite
(inframe_deletion)
Early-onset generalized limb-onset dystonia
+5 more
GConflicting classifications of pathogenicity
TOR1A
(D216H)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
+4 more
GBenign
TOR1A
(V129I)
Single nucleotide variant
(missense variant)
Early-onset generalized limb-onset dystonia
+1 more
GUncertain significance
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