NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)Pathogenic
Charcot-Marie-Tooth disease type 4B1|Inborn genetic diseases|Charcot-Marie-Tooth disease type 4
β
β
ββ2025β Residue 364
NM_016156.6(MTMR2):c.1882_1885dup (p.Ala629fs)Likely pathogenic
Charcot-Marie-Tooth disease type 4|Inborn genetic diseases|not provided
β
β
ββ2025β Residue 629
NM_016156.6(MTMR2):c.1362_1363del (p.Ser455fs)Pathogenic
Charcot-Marie-Tooth disease type 4|not provided
β
β
ββ2024β Residue 455
NM_016156.6(MTMR2):c.804+2T>GLikely pathogenic
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1
β
β
ββ2024
NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer)Pathogenic
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1
β
β
ββ2023β Residue 154
NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)Pathogenic
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1
β
β
ββ2023β Residue 162
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)Pathogenic
Charcot-Marie-Tooth disease type 4B1|Charcot-Marie-Tooth disease type 4
β
β
ββ2023β Residue 256
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)Pathogenic
Charcot-Marie-Tooth disease type 4|Inborn genetic diseases
β
β
ββ2023β Residue 531
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)Pathogenic
Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease type 4B1
β
β
ββ2020β Residue 514
NM_016156.6(MTMR2):c.1479+1_1479+2delLikely pathogenic
Charcot-Marie-Tooth disease type 4
β
βββ2025
NM_016156.6(MTMR2):c.1720G>T (p.Glu574Ter)Pathogenic
Charcot-Marie-Tooth disease type 4
β
βββ2024β Residue 574
NM_016156.6(MTMR2):c.934C>T (p.Gln312Ter)Pathogenic
Charcot-Marie-Tooth disease type 4
β
βββ2024β Residue 312
NM_016156.6(MTMR2):c.1693del (p.Tyr565fs)Pathogenic
Charcot-Marie-Tooth disease type 4
β
βββ2024β Residue 565
NM_016156.6(MTMR2):c.447_455del (p.Tyr149_Glu152delinsTer)Likely pathogenic
Charcot-Marie-Tooth disease type 4B1
β
βββ2024β Residue 149
NM_016156.6(MTMR2):c.357+1G>ALikely pathogenic
Charcot-Marie-Tooth disease type 4B1
β
βββ2024
NM_016156.6(MTMR2):c.1327C>T (p.Arg443Ter)Likely pathogenic
Charcot-Marie-Tooth disease type 4B1
β
βββ2024β Residue 443
NM_016156.6(MTMR2):c.1474A>T (p.Arg492Ter)Pathogenic
Charcot-Marie-Tooth disease type 4
β
βββ2024β Residue 492
NM_016156.6(MTMR2):c.1862_1865dup (p.Thr623fs)Likely pathogenic
Charcot-Marie-Tooth disease type 4B1
β
βββ2024β Residue 623
NM_016156.6(MTMR2):c.187-2A>GLikely pathogenic
Charcot-Marie-Tooth disease type 4B1
β
βββ2024
NM_016156.6(MTMR2):c.1232delinsGTCTT (p.Thr411fs)Likely pathogenic
Charcot-Marie-Tooth disease type 4B1
β
βββ2024β Residue 411