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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP104
(A882S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CEP104
(G704E)
Single nucleotide variant
(missense variant)
Joubert syndrome 25
+1 more
GBenign/Likely benign