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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KIAA0586
(E745G +6 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 23
+1 more
GUncertain significance
KIAA0586
(N925K +6 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 23
+3 more
GConflicting classifications of pathogenicity
KIAA0586
(G1572R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
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