| RS2097895286 |
ALDH18A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cutis laxa, autosomal dominant 3 |
| RS2097920506 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2097920711 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2097921115 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2097923913 |
TCTN3
|
Health Risk |
Likely pathogenic |
Orofacial-digital syndrome IV, Orofacial-digital syndrome IV |
| RS2097949677 |
TCTN3
|
Health Risk |
Pathogenic |
Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2097955017 |
TCTN3
|
Health Risk |
Pathogenic |
Orofacial-digital syndrome IV, Joubert syndrome 18 |
| RS2097958107 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS2097958158 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS2097958423 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2097958789 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2097958823 |
HSPG2
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2097958830 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2097986340 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS2097986793 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2097987064 |
DMD
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 3B, Dilated cardiomyopathy 3B |
| RS2097987198 |
DMD
|
Health Risk |
Likely pathogenic |
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin |
| RS2097987224 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 3B, Dilated cardiomyopathy 3B |
| RS2097990454 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS2097991272 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy, Duchenne muscular dystrophy |
| RS2098013713 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098013896 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy |
| RS2098027525 |
XRCC2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2098038156 |
HSPG2
|
Health Risk |
Likely pathogenic |
Schwartz-Jampel syndrome, Schwartz-Jampel syndrome type 1 |
| RS2098040942 |
XRCC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2098048505 |
HSPG2
|
Health Risk |
Pathogenic |
— |
| RS2098101022 |
SYNE1
|
Health Risk |
Pathogenic |
Autosomal recessive ataxia, Beauce type |
| RS2098126010 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098143155 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2098156037 |
SYNE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
| RS2098158268 |
SYNE1
|
Health Risk |
Pathogenic |
Autosomal recessive ataxia, Beauce type |
| RS2098269114 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Duchenne muscular dystrophy |
| RS2098269145 |
DMD
|
Health Risk |
Likely pathogenic |
— |
| RS2098269308 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Cardiomyopathy |
| RS2098273867 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098280263 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2098280321 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS2098315075 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Cardiovascular phenotype |
| RS2098315232 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2098330100 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098334069 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2098334864 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2098336133 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2098349160 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2098349366 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Becker muscular dystrophy, Duchenne muscular dystrophy |
| RS2098390819 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2098391032 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2098419549 |
SYNE1
|
Health Risk |
Likely pathogenic |
— |
| RS2098470870 |
BCKDHA
|
Health Risk |
Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS2098527248 |
SYNE1
|
Health Risk |
Pathogenic |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
| RS2098545189 |
DST
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2098603169 |
SYNE1
|
Health Risk |
Likely pathogenic |
Autosomal recessive ataxia, Beauce type |
| RS2098614719 |
LRP5
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, 6 conditions |
| RS2098615734 |
NEB
|
Health Risk |
Likely pathogenic |
NEB-related disorder, NEB-related disorder |
| RS2098629307 |
LRP5
|
Health Risk |
Likely pathogenic |
— |
| RS2098630548 |
LRP5
|
Health Risk |
Likely pathogenic |
Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4 |
| RS2098643187 |
LRP5
|
Health Risk |
Pathogenic |
— |
| RS2098643283 |
LRP5
|
Health Risk |
Pathogenic |
Exudative vitreoretinopathy 1, Malignant tumor of esophagus |
| RS2098644529 |
SYNE1
|
Health Risk |
Likely pathogenic |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
| RS2098654029 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2098659971 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS2098660756 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098660903 |
LRP5
|
Health Risk |
Likely pathogenic |
Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1 |
| RS2098660984 |
LRP5
|
Health Risk |
Pathogenic |
— |
| RS2098673217 |
LRP5
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS2098673363 |
LRP5
|
Health Risk |
Likely pathogenic |
— |
| RS2098675372 |
LRP5
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2098675378 |
LRP5
|
Health Risk |
Likely pathogenic |
— |
| RS2098676296 |
LRP5
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2098677103 |
LRP5
|
Health Risk |
Pathogenic |
— |
| RS2098677149 |
LRP5
|
Health Risk |
Likely pathogenic |
Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4 |
| RS2098677212 |
LRP5
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2098677216 |
LRP5
|
Health Risk |
Pathogenic |
— |
| RS2098678320 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2098681738 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2098713648 |
SYNE1
|
Health Risk |
Pathogenic |
Emery-Dreifuss muscular dystrophy 4, autosomal dominant |
| RS2098722781 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2098784614 |
DST
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2098817648 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098827484 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098828864 |
DST
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2098891653 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2098907339 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2098909937 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098910159 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098919015 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098919758 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2098989283 |
CAMK2D
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2099019846 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2099020340 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2099021112 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS2099060040 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Arthrogryposis multiplex congenita 6, Nemaline myopathy 2 |
| RS2099075936 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2099075974 |
NEB
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6 |
| RS2099076059 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2099076260 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2099082085 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2099082250 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS2099084606 |
NEB
|
Health Risk |
Likely pathogenic |
Nemaline myopathy 2, Arthrogryposis multiplex congenita 6 |
| RS2099104 |
SPG7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia, Hereditary spastic paraplegia 7 |