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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UCHL1
Single nucleotide variant
(intron variant)
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
+2 more
GLikely benign
UCHL1
Deletion
(intron variant)
Parkinson Disease, Dominant
+3 more
GBenign/Likely benign
UCHL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
UCHL1
Single nucleotide variant
(3 prime UTR variant)
Parkinson disease 5, autosomal dominant, susceptibility to
+1 more
GUncertain significance
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