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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP290
Single nucleotide variant
(intron variant)
Occipital encephalocele
+1 more
GLikely pathogenic
CEP290
(Q1628*)
Single nucleotide variant
(nonsense)
Blindness
+13 more
GPathogenic