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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PCLO
(D1631V)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 3
+1 more
GUncertain significance
PCLO
(Q275del)
Deletion
(inframe_deletion)
Pontocerebellar hypoplasia type 3
+1 more
GConflicting classifications of pathogenicity