NM_001605.3(AARS1):c.986G>A (p.Arg329His)Pathogenic
Charcot-Marie-Tooth disease axonal type 2N|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 2|not provided|AARS1-related disorder|Hereditary neuropathy or pain disorder
β
β
ββ2025β Residue 329
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter)Pathogenic
not provided|Charcot-Marie-Tooth disease type 2
β
β
ββ2025β Residue 333
NM_001605.3(AARS1):c.37C>T (p.Arg13Ter)Pathogenic
Charcot-Marie-Tooth disease type 2|not provided
β
β
ββ2025β Residue 13
NM_001605.3(AARS1):c.817-1G>ALikely pathogenic
Charcot-Marie-Tooth disease type 2|Inborn genetic diseases|Developmental and epileptic encephalopathy, 29
β
β
ββ2025
NM_001605.3(AARS1):c.985C>T (p.Arg329Cys)Likely pathogenic
not provided|Charcot-Marie-Tooth disease type 2
β
β
ββ2025β Residue 329
NM_001605.3(AARS1):c.2177+1G>APathogenic
Charcot-Marie-Tooth disease type 2|not provided|Colon adenocarcinoma
β
β
ββ2024
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter)Pathogenic
Charcot-Marie-Tooth disease type 2|not provided
β
β
ββ2024β Residue 246
NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer)Pathogenic
not provided|Charcot-Marie-Tooth disease type 2
β
β
ββ2024β Residue 109
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)Pathogenic
Inborn genetic diseases|Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
β
β
ββ2023β Residue 322
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter)Pathogenic
Developmental and epileptic encephalopathy, 29|Charcot-Marie-Tooth disease type 2
β
β
ββ2023β Residue 330
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg)Likely pathogenic
Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease|not provided
β
β
ββ2023β Residue 102
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)Pathogenic
Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease axonal type 2N
β
β
ββ2023β Residue 104
NM_001605.3(AARS1):c.277dup (p.Tyr93fs)Likely pathogenic
Charcot-Marie-Tooth disease axonal type 2N
β
βββ2026β Residue 93
NM_001605.3(AARS1):c.822_829del (p.Gly275fs)Pathogenic
Charcot-Marie-Tooth disease type 2
β
βββ2026β Residue 275
NM_001605.3(AARS1):c.2625_2628dup (p.Leu877fs)Pathogenic
Charcot-Marie-Tooth disease type 2
β
βββ2026β Residue 877
NM_001605.3(AARS1):c.1490dup (p.Tyr497Ter)Pathogenic
Charcot-Marie-Tooth disease type 2
β
βββ2025β Residue 497
NM_001605.3(AARS1):c.11_15del (p.Thr4fs)Pathogenic
Charcot-Marie-Tooth disease type 2
β
βββ2025β Residue 4
NM_001605.3(AARS1):c.1038_1039del (p.Ala347fs)Pathogenic
Charcot-Marie-Tooth disease type 2
β
βββ2025β Residue 347
NM_001605.3(AARS1):c.720_721del (p.Gly241fs)Pathogenic
Charcot-Marie-Tooth disease type 2
β
βββ2025β Residue 241
NM_001605.3(AARS1):c.672-565_760delinsCATAGTTGTCATLikely pathogenic
Charcot-Marie-Tooth disease type 2
β
βββ2025