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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIBF1
Insertion
(nonsense +1 more)
Joubert syndrome 33
GLikely pathogenic
PIBF1
Insertion
(inframe_indel +1 more)
Familial aplasia of the vermis
GUncertain significance