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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK5RAP2
(R1328Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GUncertain significance
CDK5RAP2
(P45L)
Single nucleotide variant
(missense variant +1 more)
Global developmental delay
GUncertain significance