NM_001370100.5(ZMYND11):c.744_745del (p.Cys249fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 30|Inborn genetic diseases
β
β
ββ2025β Residue 249
NM_001370100.5(ZMYND11):c.1072C>T (p.Arg358Ter)Pathogenic
Inborn genetic diseases|not provided|Intellectual disability, autosomal dominant 30
β
β
ββ2025β Residue 358
NM_001370100.5(ZMYND11):c.876_882del (p.Phe293fs)Pathogenic
Intellectual disability, autosomal dominant 30|not provided
β
β
ββ2025β Residue 293
NM_001370100.5(ZMYND11):c.127C>T (p.Arg43Ter)Pathogenic
Intellectual disability, autosomal dominant 30
β
β
ββ2025β Residue 43
NM_001370100.5(ZMYND11):c.912_915del (p.Asn304fs)Pathogenic
not provided|See cases|Intellectual disability, autosomal dominant 30
β
β
ββ2025β Residue 304
NM_001370100.5(ZMYND11):c.926G>A (p.Arg309His)Likely pathogenic
Intellectual disability, autosomal dominant 30|not provided
β
β
ββ2025β Residue 309
NM_001370100.5(ZMYND11):c.22C>T (p.Arg8Ter)Pathogenic
Intellectual disability, autosomal dominant 30|not provided
β
β
ββ2025β Residue 8
NM_001370100.5(ZMYND11):c.1317_1320del (p.Thr440fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 30
β
β
ββ2024β Residue 440
NM_001370100.5(ZMYND11):c.1195C>T (p.Arg399Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 30
β
β
ββ2024β Residue 399
NM_001370100.5(ZMYND11):c.76C>T (p.Arg26Trp)Pathogenic
Intellectual disability, autosomal dominant 30|not provided
β
β
ββ2024β Residue 26
NM_001370100.5(ZMYND11):c.950+2T>GLikely pathogenic
not provided|Intellectual disability, autosomal dominant 30
β
β
ββ2024
NM_001370100.5(ZMYND11):c.737_738del (p.Lys246fs)Pathogenic
not provided|Intellectual disability, autosomal dominant 30
β
β
ββ2024β Residue 246
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)Pathogenic
Inborn genetic diseases|not provided|Intellectual disability, autosomal dominant 30|Global developmental delay|Neurodevelopmental disorder|ZMYND11-related disorder
β
β
ββ2023β Residue 600
NM_001370100.5(ZMYND11):c.701_704del (p.Asp234fs)Pathogenic
not provided|Inborn genetic diseases
β
β
ββ2023β Residue 234
NM_001370100.5(ZMYND11):c.1388_1389del (p.Cys463fs)Pathogenic
not provided
β
β
ββ2022β Residue 463
NM_001370100.5(ZMYND11):c.1769G>A (p.Trp590Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 30
β
β
ββ2021β Residue 590
NM_001370100.5(ZMYND11):c.82C>T (p.Gln28Ter)Pathogenic
not provided|Intellectual disability, autosomal dominant 30
β
β
ββ2021β Residue 28
NM_001370100.5(ZMYND11):c.1793G>A (p.Cys598Tyr)Likely pathogenic
Intellectual disability, autosomal dominant 30
β
βββ2025β Residue 598
NM_001370100.5(ZMYND11):c.1720T>G (p.Cys574Gly)Likely pathogenic
Intellectual disability, autosomal dominant 30
β
βββ2025β Residue 574
NM_001370100.5(ZMYND11):c.1756CAG[1] (p.Gln587del)Likely pathogenic
Intellectual disability, autosomal dominant 30|Inborn genetic diseases
β
βββ2025β Residue 587