"Baylor Genetics"[submitter] AND "CDK13"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441717	NM_003718.5(CDK13):c.70G>T (p.Glu24Ter)	CDK13 (E24*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 504021	NM_003718.5(CDK13):c.484dup (p.Ala162fs)	CDK13, LOC129998292 (A162fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1028150	NM_003718.5(CDK13):c.521C>G (p.Thr174Arg)	CDK13 (T174R)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1033605	NM_003718.5(CDK13):c.796A>G (p.Ser266Gly)	CDK13 (S266G)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GUncertain significance
Select item 1028151	NM_003718.5(CDK13):c.875C>T (p.Ala292Val)	CDK13 (A292V)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 2441685	NM_003718.5(CDK13):c.909C>G (p.Asp303Glu)	CDK13 (D303E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1030697	NM_003718.5(CDK13):c.1526C>G (p.Thr509Arg)	CDK13 (T509R)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1028144	NM_003718.5(CDK13):c.1583G>C (p.Ser528Thr)	CDK13 (S528T)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1028145	NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter)	CDK13 (R751*)	Single nucleotide variant (nonsense)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GConflicting classifications of pathogenicity
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 689751	NM_003718.5(CDK13):c.2570G>A (p.Gly857Glu)	CDK13 (G857E)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1718177	NM_003718.5(CDK13):c.2639G>A (p.Arg880His)	CDK13 (R880H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028146	NM_003718.5(CDK13):c.3190C>T (p.Pro1064Ser)	CDK13 (P1064S)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 709063	NM_003718.5(CDK13):c.3271G>A (p.Glu1091Lys)	CDK13 (E1091K)	Single nucleotide variant (missense variant +1 more)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1028147	NM_003718.5(CDK13):c.3481C>G (p.Pro1161Ala)	CDK13 (P1161A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1028148	NM_003718.5(CDK13):c.4081C>G (p.Pro1361Ala)	CDK13 (P1301A +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	GUncertain significance
Select item 1028149	NM_003718.5(CDK13):c.4403A>G (p.Glu1468Gly)	CDK13 (E1408G +1 more)	Single nucleotide variant (missense variant)	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder +1 more	GUncertain significance