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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARMC9
(E34*)
Single nucleotide variant
(nonsense +1 more)
Joubert syndrome 30
GPathogenic
ARMC9
(R372C +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 30
+1 more
GUncertain significance