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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CEP55
(P426R)
Single nucleotide variant
(missense variant)
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
+2 more
GUncertain significance
ACSM6, CEP55
+22 more
Copy number loss
not provided
GLikely pathogenic