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Items: 4

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
Single nucleotide variant
(intron variant)
Early-onset generalized limb-onset dystonia
GUncertain significance
TOR1A
(F205I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ABL1, AIF1L
+38 more
Copy number loss
not provided
GLikely pathogenic
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