NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|Neuromuscular disease|Neuronopathy, distal hereditary motor, autosomal dominant 8|not provided|Inborn genetic diseases|TRPV4-Related Hereditary Motor And Sensory Neuropathy
β
β
ββ2025β Residue 186
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)Pathogenic
Spondylometaphyseal dysplasia, Kozlowski type|Parastremmatic dwarfism|Neuromuscular disease;Skeletal dysplasia|not provided|Charcot-Marie-Tooth disease axonal type 2C|Metatropic dysplasia|Inborn genetic diseases|Neuronopathy, distal hereditary motor, autosomal dominant 8|Multiple epiphyseal dysplasia
β
β
ββ2025β Residue 594
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)Pathogenic
Scapuloperoneal spinal muscular atrophy|Charcot-Marie-Tooth disease axonal type 2C|Neuronopathy, distal hereditary motor, autosomal dominant 8|not provided|Neuromuscular disease|Neuronopathy, distal hereditary motor, autosomal dominant|Inborn genetic diseases|TRPV4-related disorder|Neuronopathy, distal hereditary motor, autosomal dominant 8;Scapuloperoneal spinal muscular atrophy|TRPV4-Associated Disorders
β
β
ββ2025β Residue 315
NM_021625.5(TRPV4):c.1780C>T (p.Arg594Cys)Likely pathogenic
Charcot-Marie-Tooth disease axonal type 2C|not provided
β
β
ββ2025β Residue 594
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|Scapuloperoneal spinal muscular atrophy|Neuromuscular disease|Neuronopathy, distal hereditary motor, autosomal dominant 8|not provided|Hereditary motor neuron disease|Distal spinal muscular atrophy|Inborn genetic diseases
β
β
ββ2025β Residue 269
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|Neuromuscular disease|EMG abnormality;Lower limb amyotrophy;Clubfoot|not provided|Charcot-Marie-Tooth disease
β
β
ββ2025β Residue 316
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|Scapuloperoneal spinal muscular atrophy|not provided|Charcot-Marie-Tooth disease|Neuromuscular disease|Neuronopathy, distal hereditary motor, autosomal dominant|TRPV4-related disorder|Inborn genetic diseases
β
β
ββ2025β Residue 316
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)Pathogenic
Metatropic dysplasia|Spondyloepimetaphyseal dysplasia, Maroteaux type|Skeletal dysplasia|Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2C|Parastremmatic dwarfism|Spondylometaphyseal dysplasia, Kozlowski type|TRPV4-related disorder|not provided
β
β
ββ2025β Residue 799
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)Pathogenic
Neuronopathy, distal hereditary motor, autosomal dominant 8|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease|Neuromuscular disease|not provided|Inborn genetic diseases|11 conditions|TRPV4-related bone disorder
β
β
ββ2025β Residue 269
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|not provided|Neuronopathy, distal hereditary motor, autosomal dominant 8|Skeletal dysplasia;Neuromuscular disease|Neuronopathy, distal hereditary motor, autosomal dominant|Charcot-Marie-Tooth disease|Spondylometaphyseal dysplasia, Kozlowski type
β
β
ββ2025β Residue 232
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)Pathogenic
Brachyrachia (short spine dysplasia)|Neuromuscular disease;Skeletal dysplasia|Skeletal dysplasia|Charcot-Marie-Tooth disease axonal type 2C|not provided|Charcot-Marie-Tooth disease|Metatropic dysplasia
β
β
ββ2024β Residue 620
NM_021625.5(TRPV4):c.944G>A (p.Arg315Gln)Pathogenic
not provided|Charcot-Marie-Tooth disease axonal type 2C
β
β
ββ2024β Residue 315
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del)Pathogenic
Skeletal dysplasia|not provided|Skeletal dysplasia and progressive central nervous system degeneration, lethal|Metatropic dysplasia|Charcot-Marie-Tooth disease axonal type 2C
β
β
ββ2024β Residue 471
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)Pathogenic
Brachyrachia (short spine dysplasia)|Skeletal dysplasia|not provided|Charcot-Marie-Tooth disease axonal type 2C
β
β
ββ2024β Residue 616
NM_021625.5(TRPV4):c.2391G>C (p.Glu797Asp)Likely pathogenic
Metatropic dysplasia
β
β
ββ2024β Residue 797
NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu)Pathogenic
Skeletal dysplasia|not provided|Spondylometaphyseal dysplasia, Kozlowski type|Charcot-Marie-Tooth disease axonal type 2C
β
β
ββ2024β Residue 617
NM_021625.5(TRPV4):c.2480C>A (p.Pro827His)Pathogenic
Charcot-Marie-Tooth disease axonal type 2C|TRPV4-related disorder
β
β
ββ2023β Residue 827
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)Pathogenic
Spondyloepimetaphyseal dysplasia, Maroteaux type|Spondylometaphyseal dysplasia, Kozlowski type|Metatropic dysplasia|Neuromuscular disease;Skeletal dysplasia|Brachyrachia (short spine dysplasia)|not provided|Charcot-Marie-Tooth disease axonal type 2C|Scapuloperoneal spinal muscular atrophy
β
β
ββ2023β Residue 797
NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)Pathogenic
Skeletal dysplasia|Charcot-Marie-Tooth disease axonal type 2C|Metatropic dysplasia
β
β
ββ2023β Residue 407
NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu)Likely pathogenic
Charcot-Marie-Tooth disease axonal type 2C
β
βββ2025β Residue 237