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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP78
(F534C +1 more)
Single nucleotide variant
(missense variant)
Cone-rod dystrophy and hearing loss 1
GUncertain significance
SEC16A, SEC61B
+553 more
Copy number gain
Hypotonia
+2 more
GLikely pathogenic