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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
THAP1
(S130fs)
Deletion
(frameshift variant +1 more)
Torsion dystonia 6
GLikely pathogenic
THAP1
Single nucleotide variant
(intron variant)
Torsion dystonia 6
GUncertain significance