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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHI1
Single nucleotide variant
(intron variant)
Joubert syndrome 3
GLikely pathogenic
AHI1
(R351*)
Single nucleotide variant
(nonsense)
Joubert syndrome 3
+1 more
GPathogenic