"Genome-Nilou Lab"[submitter] AND "CDK5RAP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158168	NM_018249.6(CDK5RAP2):c.5579-34G>C	CDK5RAP2	Single nucleotide variant (intron variant)	Microcephaly 3, primary, autosomal recessive +1 more	GBenign
Select item 158165	NM_018249.6(CDK5RAP2):c.5578+29C>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 21651	NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu)	CDK5RAP2 (V1540L +1 more)	Single nucleotide variant (missense variant +1 more)	Primary Microcephaly, Recessive +3 more	GBenign
Select item 158127	NM_018249.6(CDK5RAP2):c.1093-27A>G	CDK5RAP2	Single nucleotide variant (intron variant)	Microcephaly 3, primary, autosomal recessive +1 more	GBenign
Select item 21657	NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)	CDK5RAP2 (E289Q)	Single nucleotide variant (missense variant +1 more)	Primary Microcephaly, Recessive +3 more	GBenign
Select item 670443	NM_018249.6(CDK5RAP2):c.196-66A>G	CDK5RAP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 95896	NM_018249.6(CDK5RAP2):c.-3G>T	CDK5RAP2	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive +3 more	GBenign
Select item 95895	NM_018249.6(CDK5RAP2):c.-19T>C	CDK5RAP2	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 3, primary, autosomal recessive +3 more	GBenign

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