NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)Pathogenic
Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease recessive intermediate A|not provided|Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
β
β
ββ2026β Residue 125
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)Pathogenic
Neuropathy, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease type 4A|not provided|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease recessive intermediate A
β
β
ββ2026β Residue 163
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)Pathogenic
Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease|Peripheral neuropathy|Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease axonal type 2K|not provided
β
β
ββ2025β Residue 153
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)Pathogenic
Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K|not provided|Elevated circulating creatine kinase concentration;Elevated circulating alkaline phosphatase concentration;Peripheral axonal neuropathy;Polyneuropathy;Sensory neuropathy|GDAP1-related disorder|Charcot-Marie-Tooth disease|Inborn genetic diseases|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A
β
β
ββ2025β Residue 239
NM_018972.4(GDAP1):c.844C>T (p.Arg282Cys)Pathogenic
Charcot-Marie-Tooth disease recessive intermediate A|not provided|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
β
β
ββ2025β Residue 282
NM_018972.4(GDAP1):c.536del (p.Pro179fs)Pathogenic
Charcot-Marie-Tooth disease type 4A|not provided
β
β
ββ2025β Residue 179
NM_018972.4(GDAP1):c.581C>G (p.Ser194Ter)Pathogenic
Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|not provided|Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
β
β
ββ2025β Residue 194
NM_018972.4(GDAP1):c.694+1G>APathogenic
Charcot-Marie-Tooth disease type 4A|not provided|Inborn genetic diseases|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease recessive intermediate A
β
β
ββ2025
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)Pathogenic
Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease type 4A|not provided|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A|Inborn genetic diseases
β
β
ββ2025β Residue 120
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)Pathogenic
Charcot-Marie-Tooth disease axonal type 2K|not provided|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease|Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
β
β
ββ2025β Residue 231
NM_018972.4(GDAP1):c.769C>T (p.Arg257Ter)Pathogenic
not provided|Charcot-Marie-Tooth disease recessive intermediate A|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4A
β
β
ββ2025β Residue 257
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)Pathogenic
Charcot-Marie-Tooth disease axonal type 2K|not provided|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease
β
β
ββ2025β Residue 123
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)Pathogenic
Charcot-Marie-Tooth disease type 4A
β
β
ββ2025β Residue 119
NM_018972.4(GDAP1):c.786del (p.Phe263fs)Pathogenic
Charcot-Marie-Tooth disease type 4A|not provided|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease recessive intermediate A
β
β
ββ2025β Residue 263
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)Pathogenic
not provided|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K|Inborn genetic diseases
β
β
ββ2025β Residue 256
NM_018972.4(GDAP1):c.311-1G>APathogenic
Charcot-Marie-Tooth disease|not provided|Charcot-Marie-Tooth disease type 4A|GDAP1-related disorder|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease recessive intermediate A;Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
β
β
ββ2025
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)Pathogenic
Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease|not provided|Charcot-Marie-Tooth disease axonal type 2K|Charcot-Marie-Tooth disease axonal type 2K;Charcot-Marie-Tooth disease type 4A;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive;Charcot-Marie-Tooth disease recessive intermediate A
β
β
ββ2024β Residue 116
NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)Pathogenic
not provided|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease axonal type 2K
β
β
ββ2024β Residue 310
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)Pathogenic
GDAP1-related disorder|Charcot-Marie-Tooth disease type 4A|Inborn genetic diseases|Charcot-Marie-Tooth disease
β
β
ββ2024β Residue 282
NM_018972.4(GDAP1):c.482G>A (p.Arg161His)Pathogenic
Charcot-Marie-Tooth disease type 4A|not provided
β
β
ββ2024β Residue 161