| RS1603447381 |
SHANK3
|
Health Risk |
Likely pathogenic |
— |
| RS1603447383 |
SHANK3
|
Health Risk |
Pathogenic |
— |
| RS1603448406 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603448428 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603452196 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603452200 |
DMD
|
Health Risk |
Pathogenic |
Myopathy, Myopathy |
| RS1603452207 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603452612 |
P2RY8
|
Health Risk |
Likely pathogenic |
Multiple myeloma, Multiple myeloma |
| RS1603464017 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603482650 |
MYH9
|
Health Risk |
Likely pathogenic |
MYH9-related disorder, MYH9-related disorder |
| RS1603482652 |
MYH9
|
Health Risk |
Likely pathogenic |
MYH9-related disorder, MYH9-related disorder |
| RS1603482653 |
MYH9
|
Health Risk |
Pathogenic |
MYH9-related disorder, MYH9-related disorder |
| RS1603483058 |
MYH9
|
Health Risk |
Likely pathogenic |
MYH9-related disorder, MYH9-related disorder |
| RS1603483077 |
MYH9
|
Health Risk |
Conflicting classifications of pathogenicity |
MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS1603483387 |
MYH9
|
Health Risk |
Likely pathogenic |
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS1603483388 |
MYH9
|
Health Risk |
Likely pathogenic |
MYH9-related disorder, MYH9-related disorder |
| RS1603483654 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS1603484047 |
MYH9
|
Health Risk |
Pathogenic/Likely pathogenic |
MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS1603484048 |
MYH9
|
Health Risk |
Likely pathogenic |
MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS1603484059 |
MYH9
|
Health Risk |
Pathogenic |
MYH9-related disorder, MYH9-related disorder |
| RS1603484060 |
MYH9
|
Health Risk |
Pathogenic |
MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss |
| RS1603513680 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603513684 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603513697 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603513803 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603513817 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603513828 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603514135 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Cardiovascular phenotype |
| RS1603514271 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Melanoma |
| RS1603514272 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603589162 |
COL6A1
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1603589167 |
COL6A1
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1603590637 |
COL6A1
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1603590641 |
COL6A1
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1603590649 |
COL6A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A |
| RS1603593491 |
COL6A1
|
Health Risk |
Likely pathogenic |
— |
| RS1603615883 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603618489 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603624808 |
TCF4
|
Health Risk |
Likely pathogenic |
— |
| RS1603628479 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603628482 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603628483 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603628485 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603628487 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603629988 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603630431 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631218 |
DMD
|
Health Risk |
Likely pathogenic |
— |
| RS1603631219 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631225 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631240 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631241 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631244 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS1603631365 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631367 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631368 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631705 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631744 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631752 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS1603631756 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603631757 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin |
| RS1603632117 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603632119 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603632245 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603632246 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1603632248 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603632309 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603632311 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603632312 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603632314 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603632316 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603632322 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS1603632324 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603632326 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603633486 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603633541 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603633545 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603633860 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603633864 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603633867 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1603633868 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Thyroid cancer |
| RS1603634079 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634105 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634199 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634203 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634206 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634207 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634298 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634299 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634603 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634604 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634607 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634608 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS1603634609 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634742 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634743 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634744 |
DMD
|
Health Risk |
Pathogenic/Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634745 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634746 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634747 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1603634748 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |