NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)Pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities|Neurodevelopmental disorder|not provided|Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities|Developmental disorder
β
β
ββ2026β Residue 534
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys)Pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities|not provided
β
β
ββ2025β Residue 545
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)Pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β
β
ββ2023β Residue 522
NM_004539.4(NARS1):c.1460C>T (p.Ala487Val)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
β
βββ2025β Residue 487
NM_004539.4(NARS1):c.1208A>T (p.His403Leu)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
β
βββ2025β Residue 403
NM_004539.4(NARS1):c.376C>T (p.Gln126Ter)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
β
βββ2025β Residue 126
NM_004539.4(NARS1):c.901C>T (p.Gln301Ter)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β
βββ2025β Residue 301
NM_004539.4(NARS1):c.1315C>T (p.Arg439Ter)Likely pathogenic
not provided
β
βββ2025β Residue 439
NM_004539.4(NARS1):c.893A>G (p.Gln298Arg)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
β
βββ2024β Residue 298
NM_004539.4(NARS1):c.1319T>C (p.Phe440Ser)Likely pathogenic
not provided
β
βββ2023β Residue 440
NM_004539.4(NARS1):c.421+1G>ALikely pathogenic
not provided
β
βββ2022
NM_004539.4(NARS1):c.986G>A (p.Arg329Gln)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β
βββ2022β Residue 329
NM_004539.4(NARS1):c.676G>C (p.Val226Leu)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β
βββ2022β Residue 226
NM_004539.4(NARS1):c.50C>T (p.Thr17Met)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β
βββ2021β Residue 17
NM_004539.4(NARS1):c.965G>T (p.Arg322Leu)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
β
βββ2021β Residue 322
NM_004539.4(NARS1):c.179A>C (p.Lys60Thr)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β
ββββ Residue 60
NM_004539.4(NARS1):c.713G>A (p.Arg238Gln)Likely pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
β
ββββ Residue 238
NM_004539.4(NARS1):c.1022del (p.Glu341fs)Likely pathogenic
not provided
ββββ2025β Residue 341
NM_004539.4(NARS1):c.251_252del (p.Glu84fs)Pathogenic
NARS1-related disorder
ββββ2023β Residue 84
NM_004539.4(NARS1):c.203dup (p.Met69fs)Pathogenic
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
ββββ2020β Residue 69