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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CDK5RAP2
(L1718V +2 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
CDK5RAP2
(R1257W +1 more)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 3, primary, autosomal recessive
+2 more
GUncertain significance
CDK5RAP2
(M951R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
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