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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPLANE1
(R3020* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 17
+5 more
GPathogenic/Likely pathogenic
TCTN1
(K186* +3 more)
Single nucleotide variant
(nonsense +2 more)
Joubert syndrome 13
+2 more
GPathogenic