NM_001379659.1(ZNF142):c.3946del (p.Glu1316fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements|Inborn genetic diseases
β
β
ββ2025β Residue 1316
NM_001379659.1(ZNF142):c.4602del (p.Leu1535fs)Pathogenic
Seizure;Intellectual disability|Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
β
ββ2025β Residue 1535
NM_001379659.1(ZNF142):c.2510del (p.Pro837fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
β
ββ2025β Residue 837
NM_001379659.1(ZNF142):c.2506C>T (p.Arg836Ter)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements|not provided
β
β
ββ2025β Residue 836
NM_001379659.1(ZNF142):c.4630C>T (p.Arg1544Ter)Pathogenic
not provided|Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
β
ββ2025β Residue 1544
NM_001379659.1(ZNF142):c.4114C>T (p.Gln1372Ter)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
β
ββ2025β Residue 1372
NM_001379659.1(ZNF142):c.1765_1766del (p.Asp589fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
β
ββ2025β Residue 589
NM_001379659.1(ZNF142):c.1852C>T (p.Arg618Ter)Pathogenic
not provided|Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
β
ββ2025β Residue 618
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements|not provided
β
β
ββ2024β Residue 1259
NM_001379659.1(ZNF142):c.3755del (p.Gly1252fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements|not provided
β
β
ββ2024β Residue 1252
NM_001379659.1(ZNF142):c.3787dup (p.Gln1263fs)Likely pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
β
ββ2021β Residue 1263
NM_001379659.1(ZNF142):c.2029C>T (p.Arg677Ter)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
βββ2026β Residue 677
NM_001379659.1(ZNF142):c.2531del (p.Pro844fs)Pathogenic
Inborn genetic diseases
β
βββ2025β Residue 844
NM_001379659.1(ZNF142):c.3232C>T (p.Gln1078Ter)Likely pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
βββ2025β Residue 1078
NM_001379659.1(ZNF142):c.4990C>T (p.Arg1664Ter)Pathogenic
not provided
β
βββ2025β Residue 1664
NM_001379659.1(ZNF142):c.1762C>T (p.Gln588Ter)Pathogenic
not provided
β
βββ2025β Residue 588
NM_001379659.1(ZNF142):c.3250del (p.His1084fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
βββ2025β Residue 1084
NM_001379659.1(ZNF142):c.4298G>T (p.Cys1433Phe)Likely pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
βββ2025β Residue 1433
NM_001379659.1(ZNF142):c.4485C>A (p.Phe1495Leu)Likely pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
βββ2025β Residue 1495
NM_001379659.1(ZNF142):c.1127del (p.Thr376fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β
βββ2025β Residue 376