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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS13C
(R3526* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive early-onset Parkinson disease 23
GLikely pathogenic
VPS13C
(Y2729C +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 23
GUncertain significance
VPS13C
(E1753Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive early-onset Parkinson disease 23
GUncertain significance
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