"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "CDK5RAP2"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664172	NM_018249.6(CDK5RAP2):c.1092+1G>A	CDK5RAP2	Single nucleotide variant (splice donor variant)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic
Select item 3235013	NM_018249.6(CDK5RAP2):c.866_867dup (p.Glu290fs)	CDK5RAP2 (E290fs)	Duplication (frameshift variant +1 more)	Microcephaly 3, primary, autosomal recessive	GLikely pathogenic