"Revvity Omics, Revvity"[submitter] AND "CDK13"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2171021	NM_003718.5(CDK13):c.482G>T (p.Gly161Val)	CDK13, LOC129998292 (G161V)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GUncertain significance
Select item 2439869	NM_003718.5(CDK13):c.850A>G (p.Lys284Glu)	CDK13 (K284E)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GUncertain significance
Select item 2439874	NM_003718.5(CDK13):c.1301G>A (p.Arg434His)	CDK13 (R434H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2439871	NM_003718.5(CDK13):c.1856A>T (p.Asp619Val)	CDK13 (D619V)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GUncertain significance
Select item 2439873	NM_003718.5(CDK13):c.1960G>A (p.Glu654Lys)	CDK13 (E654K)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
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 1324037	NM_003718.5(CDK13):c.2427del (p.Phe809fs)	CDK13 (F809fs)	Deletion (frameshift variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely pathogenic
Select item 2439870	NM_003718.5(CDK13):c.2450T>A (p.Phe817Tyr)	CDK13 (F817Y)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 2439872	NM_003718.5(CDK13):c.2996G>A (p.Arg999Gln)	CDK13 (R999Q)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 2439868	NM_003718.5(CDK13):c.3125C>G (p.Ala1042Gly)	CDK13 (A1042G)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1335667	NM_003718.5(CDK13):c.3737C>T (p.Thr1246Met)	CDK13 (T1186M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2690476	NM_003718.5(CDK13):c.4334C>T (p.Thr1445Met)	CDK13 (T1385M +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GLikely benign