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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL13B
(Q278H +3 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 8
GUncertain significance
ARL13B
(R336Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 8
GConflicting classifications of pathogenicity
ARL13B
(G384E +3 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 8
+2 more
GConflicting classifications of pathogenicity
ARL13B
(Y299C +3 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 8
+2 more
GUncertain significance
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