NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)Pathogenic
Inborn genetic diseases|Abnormal pyramidal sign;Congenital sensorineural hearing impairment;Progressive cerebellar ataxia;Abnormal cerebral white matter morphology;Optic neuropathy|Autosomal recessive nonsyndromic hearing loss 89|KARS-related disorder|LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS|Deafness, congenital, and adult-onset progressive leukoencephalopathy|KARS1-related disorder|not provided|Leukoencephalopathy, progressive, infantile-onset, with or without deafness|Charcot-Marie-Tooth disease recessive intermediate B|Hearing loss, autosomal recessive
β
β
ββ2025β Residue 200
NM_005548.3(KARS1):c.1688A>T (p.Asn563Ile)Pathogenic
not provided
β
β
ββ2025β Residue 563
NM_005548.3(KARS1):c.690A>T (p.Arg230Ser)Likely pathogenic
not provided|Leukoencephalopathy, progressive, infantile-onset, with or without deafness|not specified
β
β
ββ2025β Residue 230
NM_005548.3(KARS1):c.1676C>T (p.Thr559Met)Pathogenic
Inborn genetic diseases|not provided|Leukoencephalopathy, progressive, infantile-onset, with or without deafness
β
β
ββ2024β Residue 559
NM_005548.3(KARS1):c.122_125del (p.Lys41fs)Pathogenic
not provided|KARS1-related disorder|Leukoencephalopathy, progressive, infantile-onset, with or without deafness
β
β
ββ2024β Residue 41
NM_005548.3(KARS1):c.1514C>G (p.Pro505Arg)Likely pathogenic
not provided|Leukoencephalopathy, progressive, infantile-onset, with or without deafness
β
β
ββ2024β Residue 505
NM_005548.3(KARS1):c.829G>T (p.Gly277Ter)Pathogenic
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
β
βββ2025β Residue 277
NM_005548.3(KARS1):c.1354del (p.Leu452fs)Pathogenic
Global developmental delay;Sensorineural hearing loss disorder;Hypotonia;Lactic acidosis|LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS|not provided
β
βββ2025β Residue 452
NM_005548.3(KARS1):c.958C>T (p.Arg320Cys)Likely pathogenic
not provided
β
βββ2025β Residue 320
NM_005548.3(KARS1):c.613C>G (p.Leu205Val)Pathogenic
not provided
β
βββ2024β Residue 205
NM_005548.3(KARS1):c.682C>T (p.Arg228Cys)Pathogenic
Autosomal recessive nonsyndromic hearing loss 89
β
βββ2024β Residue 228
NM_005548.3(KARS1):c.346C>T (p.Gln116Ter)Pathogenic
not provided
β
βββ2024β Residue 116
NM_005548.3(KARS1):c.336T>G (p.Tyr112Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 89
β
βββ2024β Residue 112
NM_005548.3(KARS1):c.1420A>T (p.Lys474Ter)Pathogenic
not provided
β
βββ2023β Residue 474
NM_005548.3(KARS1):c.1540G>T (p.Glu514Ter)Likely pathogenic
not provided
β
βββ2023β Residue 514
NM_005548.3(KARS1):c.1328T>C (p.Leu443Pro)Likely pathogenic
Leukoencephalopathy, progressive, infantile-onset, with or without deafness
β
βββ2023β Residue 443
NM_005548.3(KARS1):c.238C>T (p.Arg80Cys)Likely pathogenic
not provided
β
βββ2023β Residue 80
NM_005548.3(KARS1):c.1152_1177dup (p.Arg393fs)Likely pathogenic
KARS1-related disorder
β
βββ2023β Residue 393
NM_005548.3(KARS1):c.1382T>G (p.Phe461Cys)Likely pathogenic
not provided
β
βββ2022β Residue 461
NM_005548.3(KARS1):c.1696-2A>CPathogenic
Autosomal recessive nonsyndromic hearing loss 89
β
βββ2022