NM_006736.6(DNAJB2):c.352+1G>APathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease X-linked dominant 1|not provided|Inborn genetic diseases|DNAJB2-related disorder|Autosomal recessive distal spinal muscular atrophy 2
β
β
ββ2025
NM_006736.6(DNAJB2):c.175+2T>APathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5|not provided
β
β
ββ2024
NM_006736.6(DNAJB2):c.119_120del (p.Glu40fs)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
β
ββ2024β Residue 40
NM_006736.6(DNAJB2):c.176-2A>GLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2026
NM_006736.6(DNAJB2):c.65+1G>CLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2024
NM_006736.6(DNAJB2):c.446-1G>CLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2024
NM_006736.6(DNAJB2):c.352+1G>CLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2024
NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2024β Residue 132
NM_006736.6(DNAJB2):c.353-1G>CLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2024
NM_006736.6(DNAJB2):c.445+1G>ALikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2023
NM_006736.6(DNAJB2):c.175+1G>CLikely pathogenic
DNAJB2-related disorder
β
βββ2023
NM_006736.6(DNAJB2):c.229+1G>APathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5|Charcot-Marie-Tooth disease|Autosomal recessive distal spinal muscular atrophy 2
β
βββ2022
NM_006736.6(DNAJB2):c.118G>T (p.Glu40Ter)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2022β Residue 40
NM_006736.6(DNAJB2):c.65+1G>ALikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2021
NM_006736.6(DNAJB2):c.446-1G>ALikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2021
NM_006736.6(DNAJB2):c.175+3A>TLikely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2021
NM_006736.6(DNAJB2):c.204T>G (p.Tyr68Ter)Pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2020β Residue 68
NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys)Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5|Charcot-Marie-Tooth disease|Autosomal recessive distal spinal muscular atrophy 2
β
βββ2020β Residue 5
NM_006736.6(DNAJB2):c.757G>A (p.Glu253Lys)Likely pathogenic
Neuronopathy, distal hereditary motor, autosomal recessive 5
β
βββ2020β Residue 253
NM_006736.6(DNAJB2):c.229+2T>APathogenic
Inborn genetic diseases
β
βββ2020