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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKN
(H302Y +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRKN
(R275W +2 more)
Single nucleotide variant
(missense variant)
Young-onset Parkinson disease
+7 more
GPathogenic
PRKN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKN
(N52fs)
Deletion
(frameshift variant)
Autosomal recessive juvenile Parkinson disease 2
+3 more
GPathogenic
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