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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPHN1
(R409H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OPHN1
(Y271C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability-cerebellar hypoplasia syndrome
GUncertain significance