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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KATNIP
(Q892*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
GLikely pathogenic
KATNIP
(M1474fs)
Deletion
(frameshift variant)
Joubert syndrome 26
GPathogenic