NM_001003694.2(BRPF1):c.1182_1183del (p.Ala396fs)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis|Global developmental delay|not provided|Sudden unexplained death in childhood|Inborn genetic diseases
β
β
ββ2025β Residue 396
NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis|not provided|Inborn genetic diseases
β
β
ββ2025β Residue 455
NM_001003694.2(BRPF1):c.3298C>T (p.Arg1100Ter)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis|not provided|See cases
β
β
ββ2025β Residue 1100
NM_001003694.2(BRPF1):c.2459_2460del (p.Lys820fs)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2025β Residue 820
NM_001003694.2(BRPF1):c.2798del (p.Pro933fs)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis|not provided
β
β
ββ2025β Residue 933
NM_001003694.2(BRPF1):c.704_705del (p.Glu235fs)Pathogenic
not provided
β
β
ββ2025β Residue 235
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter)Pathogenic
not provided|Inborn genetic diseases|Intellectual developmental disorder with dysmorphic facies and ptosis|BRPF1-related disorder
β
β
ββ2024β Residue 251
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis
β
β
ββ2024β Residue 478
NM_001003694.2(BRPF1):c.2420_2433del (p.Gln807fs)Pathogenic
not provided|Intellectual developmental disorder with dysmorphic facies and ptosis
β
β
ββ2024β Residue 807
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del)Likely pathogenic
not provided|Intellectual developmental disorder with dysmorphic facies and ptosis|Inborn genetic diseases
β
β
ββ2024β Residue 1154
NM_001003694.2(BRPF1):c.883_884del (p.Met295fs)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2022β Residue 295
NM_001003694.2(BRPF1):c.1044G>A (p.Trp348Ter)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis
β
βββ2025β Residue 348
NM_001003694.2(BRPF1):c.2436_2437insAA (p.Arg813fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 813
NM_001003694.2(BRPF1):c.1199G>A (p.Cys400Tyr)Likely pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis
β
βββ2025β Residue 400
NM_001003694.2(BRPF1):c.2781dup (p.Ser928fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 928
NM_001003694.2(BRPF1):c.3021dup (p.Glu1008Ter)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 1008
NM_001003694.2(BRPF1):c.2056C>T (p.Gln686Ter)Pathogenic
Intellectual developmental disorder with dysmorphic facies and ptosis
β
βββ2025β Residue 686
NM_001003694.2(BRPF1):c.2594_2597del (p.Asp865fs)Pathogenic
not provided
β
βββ2025β Residue 865
NM_001003694.2(BRPF1):c.1547dup (p.Pro518fs)Likely pathogenic
not provided
β
βββ2025β Residue 518
NM_001003694.2(BRPF1):c.3589G>A (p.Ala1197Thr)Likely pathogenic
not provided
β
βββ2024β Residue 1197