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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIBF1
(L598R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PIBF1
(L734I +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 33
GUncertain significance