| RS1557045475 |
SLC6A8
|
Health Risk |
Pathogenic |
— |
| RS1557045581 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS1557045704 |
SLC6A8
|
Health Risk |
Pathogenic |
— |
| RS1557045843 |
SLC6A8
|
Health Risk |
Conflicting classifications of pathogenicity |
Creatine transporter deficiency, Inborn genetic diseases |
| RS1557047215 |
BCAP31
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1557047808 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557047827 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Becker muscular dystrophy |
| RS1557047875 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1557047954 |
BCAP31
|
Health Risk |
Pathogenic |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Inborn genetic diseases |
| RS1557052133 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052171 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052294 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052302 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052306 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052326 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Inborn genetic diseases |
| RS1557052351 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052362 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052367 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052390 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052397 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052417 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, ABCD1-related disorder |
| RS1557052478 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Inborn genetic diseases |
| RS1557052530 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052538 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557052555 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052560 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1557052573 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557052599 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1557052797 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1557053223 |
ABCD1
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1557053241 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557053259 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557054153 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557054173 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557054210 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557054318 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557054321 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557054745 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557054776 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557054873 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Inborn genetic diseases |
| RS1557054875 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557055253 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557055260 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557055311 |
ABCD1
|
Health Risk |
Likely pathogenic |
Myocarditis, Recurrent fever |
| RS1557055315 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557055316 |
ABCD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557055333 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Inborn genetic diseases |
| RS1557055337 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557055340 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557055392 |
ABCD1
|
Health Risk |
Pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557055398 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557055405 |
ABCD1
|
Health Risk |
Likely pathogenic |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557055406 |
ABCD1
|
Health Risk |
Likely pathogenic |
— |
| RS1557055447 |
ABCD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Adrenoleukodystrophy, Adrenoleukodystrophy |
| RS1557058294 |
DMD
|
Health Risk |
Pathogenic |
Muscular dystrophy, Cardiovascular phenotype |
| RS1557058308 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557058350 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557058353 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1557058415 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557072752 |
SSR4
|
Health Risk |
Pathogenic |
SSR4-congenital disorder of glycosylation, SSR4-congenital disorder of glycosylation |
| RS1557079469 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557082399 |
ATRX
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1557083830 |
WDR45
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS1557083878 |
WDR45
|
Health Risk |
Pathogenic |
Neurodegeneration with brain iron accumulation 5, WDR45-related disorder |
| RS1557083956 |
WDR45
|
Health Risk |
Pathogenic |
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS1557083958 |
WDR45
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation |
| RS1557083979 |
WDR45
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1557084036 |
WDR45
|
Health Risk |
Pathogenic |
— |
| RS1557084066 |
WDR45
|
Health Risk |
Pathogenic |
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS1557084067 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557084077 |
WDR45
|
Health Risk |
Pathogenic |
— |
| RS1557084113 |
WDR45
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS1557084120 |
WDR45
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Neurodegeneration with brain iron accumulation 5 |
| RS1557084127 |
WDR45
|
Health Risk |
Likely pathogenic |
— |
| RS1557084128 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557084218 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS1557084239 |
WDR45
|
Health Risk |
Pathogenic |
Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases |
| RS1557084280 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS1557084310 |
WDR45
|
Health Risk |
Pathogenic |
— |
| RS1557084491 |
WDR45
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5 |
| RS1557084549 |
WDR45
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1557090130 |
L1CAM
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked hydrocephalus syndrome, X-linked complicated corpus callosum dysgenesis |
| RS1557090143 |
L1CAM
|
Health Risk |
Pathogenic |
— |
| RS1557090161 |
L1CAM
|
Health Risk |
Pathogenic |
Spastic paraplegia, X-linked hydrocephalus syndrome |
| RS1557090220 |
L1CAM
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, X-linked hydrocephalus syndrome |
| RS1557090314 |
L1CAM
|
Health Risk |
Pathogenic |
— |
| RS1557090943 |
L1CAM
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS1557091079 |
L1CAM
|
Health Risk |
Pathogenic |
— |
| RS1557091278 |
L1CAM
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS1557091377 |
L1CAM
|
Health Risk |
Pathogenic |
— |
| RS1557091552 |
L1CAM
|
Health Risk |
Conflicting classifications of pathogenicity |
Spastic paraplegia, Spastic paraplegia |
| RS1557091629 |
L1CAM
|
Health Risk |
Pathogenic |
— |
| RS1557091678 |
L1CAM
|
Health Risk |
Pathogenic/Likely pathogenic |
L1CAM-related disorder, L1CAM-related disorders |
| RS1557091773 |
L1CAM
|
Health Risk |
Pathogenic |
Spastic paraplegia, MASA syndrome |
| RS1557092042 |
L1CAM
|
Health Risk |
Pathogenic |
— |
| RS1557092073 |
L1CAM
|
Health Risk |
Conflicting classifications of pathogenicity |
Spastic paraplegia, Inborn genetic diseases |
| RS1557092247 |
L1CAM
|
Health Risk |
Pathogenic/Likely pathogenic |
Spastic paraplegia, L1 syndrome |
| RS1557092248 |
L1CAM
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS1557092418 |
L1CAM
|
Health Risk |
Pathogenic |
— |
| RS1557092743 |
L1CAM
|
Health Risk |
Likely pathogenic |
— |