NM_006186.4(NR4A2):c.325dup (p.Gln109fs)Pathogenic
Inborn genetic diseases|Neurodevelopmental disorder|not provided|Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
β
ββ2023β Residue 109
NM_006186.4(NR4A2):c.80C>A (p.Ser27Ter)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2026β Residue 27
NM_006186.4(NR4A2):c.789C>G (p.Cys263Trp)Likely pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2025β Residue 263
NM_006186.4(NR4A2):c.1385_1386del (p.Leu462fs)Likely pathogenic
not provided
β
βββ2025β Residue 462
NM_006186.4(NR4A2):c.460C>T (p.Gln154Ter)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2025β Residue 154
NM_006186.4(NR4A2):c.286del (p.Gln96fs)Pathogenic
not provided
β
βββ2025β Residue 96
NM_006186.4(NR4A2):c.896G>C (p.Cys299Ser)Likely pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2025β Residue 299
NM_006186.4(NR4A2):c.706C>T (p.Gln236Ter)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2025β Residue 236
NM_006186.4(NR4A2):c.995-1G>APathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2025
NM_006186.4(NR4A2):c.377C>A (p.Ser126Ter)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2024β Residue 126
NM_006186.4(NR4A2):c.941G>C (p.Arg314Pro)Likely pathogenic
not provided
β
βββ2024β Residue 314
NM_006186.4(NR4A2):c.30_31insG (p.Ser11fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2024β Residue 11
NM_006186.4(NR4A2):c.14_15insT (p.Gln5fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2024β Residue 5
NM_006186.4(NR4A2):c.548del (p.Pro183fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2024β Residue 183
NM_006186.4(NR4A2):c.-2-2delPathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2024
NM_006186.4(NR4A2):c.44_45insA (p.Ser16fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2024β Residue 16
NM_006186.4(NR4A2):c.536del (p.Lys179fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2024β Residue 179
NM_006186.4(NR4A2):c.534del (p.Phe178fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2024β Residue 178
NM_006186.4(NR4A2):c.1del (p.Met1fs)Pathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2024β Residue 1
NM_006186.4(NR4A2):c.1159-81_1540+67delPathogenic
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
β
βββ2024