"Eurofins Ntd Llc (ga)"[submitter] AND "CDK5RAP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 500200	NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn)	CDK5RAP2 (S1613N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 158152	NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter)	CDK5RAP2 (R1481* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 288530	NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=)	CDK5RAP2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 596044	NM_018249.6(CDK5RAP2):c.1066C>T (p.Gln356Ter)	CDK5RAP2 (Q356*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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

ClinVar