NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)Pathogenic
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|not provided|Inborn genetic diseases
β
β
ββ2026β Residue 880
NM_003718.5(CDK13):c.3073C>T (p.Arg1025Ter)Pathogenic
not provided
β
β
ββ2025β Residue 1025
NM_003718.5(CDK13):c.2563G>T (p.Asp855Tyr)Pathogenic
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|not provided
β
β
ββ2025β Residue 855
NM_003718.5(CDK13):c.484dup (p.Ala162fs)Pathogenic
not provided|Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|CDK13-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 162
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)Pathogenic
not provided|Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|Inborn genetic diseases|Marfanoid habitus and intellectual disability|Global developmental delay
β
β
ββ2025β Residue 842
NM_003718.5(CDK13):c.2716G>A (p.Glu906Lys)Pathogenic
Inborn genetic diseases|not provided|Syndromic intellectual disability
β
β
ββ2025β Residue 906
NM_003718.5(CDK13):c.2579G>A (p.Arg860Gln)Pathogenic
not provided|Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
β
β
ββ2025β Residue 860
NM_003718.5(CDK13):c.2141G>A (p.Gly714Asp)Pathogenic
not provided|Global developmental delay|Inborn genetic diseases|Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
β
β
ββ2025β Residue 714
NM_003718.5(CDK13):c.2563G>A (p.Asp855Asn)Likely pathogenic
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|Neurodevelopmental abnormality
β
β
ββ2025β Residue 855
NM_003718.5(CDK13):c.2201A>G (p.Lys734Arg)Pathogenic
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|CDK13-related disorder
β
β
ββ2025β Residue 734
NM_003718.5(CDK13):c.2570G>A (p.Gly857Glu)Pathogenic
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|not provided
β
β
ββ2024β Residue 857
NM_003718.5(CDK13):c.2134G>A (p.Gly712Arg)Pathogenic
not provided|Heart, malformation of
β
β
ββ2024β Residue 712
NM_003718.5(CDK13):c.527dup (p.Ser177fs)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2024β Residue 177
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)Pathogenic
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|not provided
β
β
ββ2024β Residue 842
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)Pathogenic
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|not provided|Inborn genetic diseases|Autism spectrum disorder
β
β
ββ2024β Residue 717
NM_003718.5(CDK13):c.181del (p.Leu61fs)Pathogenic
Inborn genetic diseases|Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
β
β
ββ2023β Residue 61
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln)Pathogenic
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder|not provided
β
β
ββ2023β Residue 751
NM_003718.5(CDK13):c.2209C>T (p.Arg737Cys)Pathogenic
not provided|Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
β
β
ββ2022β Residue 737
NM_003718.5(CDK13):c.454C>T (p.Gln152Ter)Pathogenic
not provided|Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
β
β
ββ2021β Residue 152
NM_003718.5(CDK13):c.2509G>A (p.Asp837Asn)Pathogenic
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
β
βββ2026β Residue 837