NM_001904.4(CTNNB1):c.696dup (p.Lys233Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome
★★☆☆2026→ Residue 233
NM_001904.4(CTNNB1):c.1081+1G>TPathogenic
not provided|Colorectal cancer
★★☆☆2026
NM_001904.4(CTNNB1):c.865_869del (p.Thr289fs)Pathogenic
CTNNB1-related disorder|Severe intellectual disability-progressive spastic diplegia syndrome|not provided
★★☆☆2025→ Residue 289
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)Pathogenic
Severe intellectual disability-progressive spastic diplegia syndrome|not provided|Neurodevelopmental disorder|Intellectual disability|Microcephalic primordial dwarfism, Alazami type|Developmental disorder|7 conditions
★★☆☆2025→ Residue 474
NM_001904.4(CTNNB1):c.735-1G>CPathogenic
Colorectal cancer|not provided
★★☆☆2025
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome|Global developmental delay|CTNNB1-related disorder|Inborn genetic diseases
★★☆☆2025→ Residue 661
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome|Inborn genetic diseases|7 conditions|CTNNB1-related disorder
★★☆☆2025→ Residue 95
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome|Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity|Intellectual disability|Exudative vitreoretinopathy 7
★★☆☆2025→ Residue 535
NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome|CTNNB1-related disorder
★★☆☆2024→ Residue 333
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs)Pathogenic
not provided|Inborn genetic diseases|Severe intellectual disability-progressive spastic diplegia syndrome
★★☆☆2024→ Residue 642
NM_001904.4(CTNNB1):c.1082-1G>CPathogenic
Severe intellectual disability-progressive spastic diplegia syndrome|not provided
★★☆☆2024
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)Pathogenic
not provided|Inborn genetic diseases|Hepatocellular carcinoma
★★☆☆2024→ Residue 333
NM_001904.4(CTNNB1):c.274C>T (p.Gln92Ter)Pathogenic
not provided
★★☆☆2024→ Residue 92
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)Pathogenic
Severe intellectual disability-progressive spastic diplegia syndrome|not provided|7 conditions
★★☆☆2024→ Residue 515
NM_001904.4(CTNNB1):c.1588C>T (p.Gln530Ter)Pathogenic
Severe intellectual disability-progressive spastic diplegia syndrome
★★☆☆2024→ Residue 530
NM_001904.4(CTNNB1):c.1867C>T (p.Gln623Ter)Pathogenic
not provided
★★☆☆2024→ Residue 623
NM_001904.4(CTNNB1):c.337C>T (p.Gln113Ter)Pathogenic
not provided|Severe intellectual disability-progressive spastic diplegia syndrome
★★☆☆2024→ Residue 113
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg)Pathogenic
Inborn genetic diseases|not provided|Severe intellectual disability-progressive spastic diplegia syndrome|CTNNB1-related disorder
★★☆☆2024→ Residue 575
NM_001904.4(CTNNB1):c.1154_1155del (p.Leu385fs)Pathogenic
not provided
★★☆☆2024→ Residue 385
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)Pathogenic
not provided|Inborn genetic diseases|Severe intellectual disability-progressive spastic diplegia syndrome|Intellectual disability
★★☆☆2023→ Residue 587