"3billion"[submitter] AND "CDK13"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1215514	NM_003718.5(CDK13):c.454C>T (p.Gln152Ter)	CDK13, LOC129998292 (Q152*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 375737	NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)	CDK13 (G717R)	Single nucleotide variant (missense variant)	Autism spectrum disorder +3 more	GPathogenic
Select item 235887	NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)	CDK13 (N842S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 1695189	NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter)	CDK13 (R860*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 976738	NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)	CDK13 (R880C)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +2 more	GPathogenic/Likely pathogenic
Select item 2444330	NM_003718.5(CDK13):c.2719C>T (p.Leu907Phe)	CDK13 (L907F)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance

ClinVar