NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)Pathogenic
not provided|Menke-Hennekam syndrome 1|Rubinstein-Taybi syndrome
★★☆☆2026→ Residue 1867
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter)Pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations
★★☆☆2025→ Residue 1904
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)Pathogenic
Inborn genetic diseases|not provided|Rubinstein-Taybi syndrome due to CREBBP mutations|Menke-Hennekam syndrome 1
★★☆☆2025→ Residue 1633
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)Pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations|Inborn genetic diseases
★★☆☆2025→ Residue 1175
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)Pathogenic
not provided|Rubinstein-Taybi syndrome|Inborn genetic diseases
★★☆☆2025→ Residue 1868
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile)Pathogenic
not provided|Rubinstein-Taybi syndrome
★★☆☆2025→ Residue 1447
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)Pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations|CREBBP-related disorder|not provided
★★☆☆2025→ Residue 1947
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)Likely pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations
★★☆☆2025→ Residue 601
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)Pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations|not provided|Intellectual disability|Inborn genetic diseases|Abnormality of the nervous system|Menke-Hennekam syndrome 1;Rubinstein-Taybi syndrome due to CREBBP mutations|CREBBP-related disorder|Rubinstein-Taybi syndrome
★★☆☆2025→ Residue 1278
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)Likely pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations
★★☆☆2025→ Residue 2057
NM_004380.3(CREBBP):c.4133G>A (p.Arg1378Gln)Pathogenic
Neurodevelopmental disorder|Rubinstein-Taybi syndrome due to CREBBP mutations
★★☆☆2025→ Residue 1378
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)Pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations|Rubinstein-Taybi syndrome
★★☆☆2025→ Residue 1240
NM_004380.3(CREBBP):c.2881-13G>APathogenic
Rubinstein-Taybi syndrome|not provided
★★☆☆2025
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)Pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations|not provided
★★☆☆2025→ Residue 2108
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)Likely pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations|not provided|Rubinstein-Taybi syndrome due to CREBBP mutations;Menke-Hennekam syndrome 1
★★☆☆2025→ Residue 1664
NM_004380.3(CREBBP):c.5599C>T (p.Arg1867Trp)Pathogenic
not provided|Menke-Hennekam syndrome 1
★★☆☆2025→ Residue 1867
NM_004380.3(CREBBP):c.904_905del (p.Ser302fs)Pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations;Menke-Hennekam syndrome 1|not provided
★★☆☆2025→ Residue 302
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)Likely pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations|not provided
★★☆☆2025→ Residue 1426
NM_004380.3(CREBBP):c.4679_4683del (p.Glu1560fs)Pathogenic
Rubinstein-Taybi syndrome|Rubinstein-Taybi syndrome due to CREBBP mutations
★★☆☆2025→ Residue 1560
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)Pathogenic
Rubinstein-Taybi syndrome due to CREBBP mutations|not provided
★★☆☆2025→ Residue 1786