NM_001005373.4(LRSAM1):c.2068T>C (p.Cys690Arg)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|not provided
β
β
ββ2025β Residue 690
NM_001005373.4(LRSAM1):c.1957dup (p.Gln653fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β
β
ββ2025β Residue 653
NM_001005373.4(LRSAM1):c.2027_2033del (p.Val676fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|Charcot-Marie-Tooth disease axonal type 2P-AR
β
β
ββ2025β Residue 676
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu)Pathogenic
Inborn genetic diseases|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2P|not provided
β
β
ββ2025β Residue 707
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|Inborn genetic diseases
β
β
ββ2025β Residue 698
NM_001005373.4(LRSAM1):c.831del (p.Gln278fs)Pathogenic
Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2P
β
β
ββ2025β Residue 278
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|Charcot-Marie-Tooth disease|Inborn genetic diseases|not provided
β
β
ββ2025β Residue 674
NM_001005373.4(LRSAM1):c.1279C>T (p.Arg427Ter)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β
β
ββ2025β Residue 427
NM_001005373.4(LRSAM1):c.517C>T (p.Arg173Ter)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β
β
ββ2025β Residue 173
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs)Likely pathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2P
β
β
ββ2025β Residue 670
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2P-AR
β
β
ββ2024β Residue 565
NM_001005373.4(LRSAM1):c.1913-1G>APathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2P|not provided|Inborn genetic diseases
β
β
ββ2024
NM_001005373.4(LRSAM1):c.2011C>T (p.Gln671Ter)Likely pathogenic
not provided|LZTR1-related schwannomatosis
β
β
ββ2024β Residue 671
NM_001005373.4(LRSAM1):c.904-2A>GLikely pathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2P
β
β
ββ2024
NM_001005373.4(LRSAM1):c.1815del (p.Asp607fs)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P|Charcot-Marie-Tooth disease|not provided
β
β
ββ2023β Residue 607
NM_001005373.4(LRSAM1):c.2003_2015del (p.Leu668fs)Likely pathogenic
not provided|Charcot-Marie-Tooth disease axonal type 2P
β
β
ββ2022β Residue 668
NM_001005373.4(LRSAM1):c.2080T>C (p.Cys694Arg)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β
βββ2026β Residue 694
NM_001005373.4(LRSAM1):c.2029del (p.Val677fs)Likely pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β
βββ2026β Residue 677
NM_001005373.4(LRSAM1):c.304C>T (p.Gln102Ter)Pathogenic
Charcot-Marie-Tooth disease axonal type 2P
β
βββ2025β Residue 102
NM_001005373.4(LRSAM1):c.2005G>T (p.Glu669Ter)Likely pathogenic
Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2P
β
βββ2025β Residue 669