"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CDK13"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 720798	NM_003718.5(CDK13):c.1207C>T (p.Leu403Phe)	CDK13 (L403F)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +2 more	GBenign/Likely benign
Select item 1656383	NM_003718.5(CDK13):c.1347G>T (p.Leu449=)	CDK13	Single nucleotide variant (synonymous variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GLikely benign
Select item 375737	NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	CDK13 (G717R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 788670	NM_003718.5(CDK13):c.2180C>T (p.Thr727Ile)	CDK13 (T727I)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +2 more	GBenign/Likely benign
Select item 235887	NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)	CDK13 (N842S)	Single nucleotide variant (missense variant)	Marfanoid habitus and intellectual disability +4 more	GPathogenic/Likely pathogenic
Select item 730686	NM_003718.5(CDK13):c.3955G>A (p.Gly1319Ser)	CDK13 (G1319S +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +2 more	GLikely benign

ClinVar