| RS72555362 |
GLB1
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS72555363 |
GLB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS72555364 |
GLB1
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS72555365 |
GLB1
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS72555366 |
GLB1
|
Health Risk |
Pathogenic |
Infantile GM1 gangliosidosis, GM1 gangliosidosis |
| RS72555367 |
GLB1
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS72555368 |
GLB1
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-B |
| RS72555369 |
GLB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis, MPS-IV-B |
| RS72555370 |
GLB1
|
Health Risk |
Likely pathogenic |
GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis |
| RS72555371 |
GLB1
|
Health Risk |
Likely pathogenic |
GM1-gangliosidosis, type I |
| RS72555372 |
GLB1
|
Health Risk |
Pathogenic |
GM1-gangliosidosis, type I |
| RS72555373 |
GLB1
|
Health Risk |
Likely pathogenic |
GM1-gangliosidosis, type I |
| RS72555374 |
SERPINA1
|
Health Risk |
Pathogenic |
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency |
| RS72555376 |
LRP5
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72555390 |
GLB1
|
Health Risk |
Pathogenic/Likely pathogenic |
GM1 gangliosidosis type 3, Mucopolysaccharidosis |
| RS72555391 |
GLB1
|
Health Risk |
Pathogenic |
Infantile GM1 gangliosidosis, Mucopolysaccharidosis |
| RS72555392 |
GLB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Infantile GM1 gangliosidosis, GM1-gangliosidosis |
| RS72555393 |
GLB1
|
Health Risk |
Pathogenic/Likely pathogenic |
GM1 gangliosidosis type 3, Inborn genetic diseases |
| RS72555509 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Clear cell carcinoma of kidney |
| RS72556251 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556252 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556253 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556254 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556255 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556256 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556257 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556259 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556260 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556261 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556262 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556263 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556264 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556266 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556267 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556269 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556270 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556271 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556272 |
OTC
|
Health Risk |
Conflicting classifications of pathogenicity |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556274 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556275 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556276 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556277 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556278 |
OTC
|
Health Risk |
Pathogenic/Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556279 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556280 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556281 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556282 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556283 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556284 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556285 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556286 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556287 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556288 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556289 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556290 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556291 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556292 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556293 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556294 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556295 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, OTC-related disorder |
| RS72556296 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556298 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556299 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556300 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556301 |
OTC
|
Health Risk |
Pathogenic/Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72556302 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72556369 |
ANK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Cardiac arrhythmia |
| RS72556376 |
ANK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Cardiovascular phenotype |
| RS72556553 |
ATRIP
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS72556554 |
TREX1
|
Health Risk |
Likely pathogenic |
Aicardi-Goutieres syndrome 1, Systemic lupus erythematosus |
| RS72556555 |
TREX1
|
Health Risk |
Conflicting classifications of pathogenicity |
Aicardi-Goutieres syndrome 1, Chilblain lupus 1 |
| RS72557906 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72557928 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72557941 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72557946 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, POR-related disorder |
| RS72557949 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Inborn genetic diseases |
| RS72557950 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, POR-related disorder |
| RS72557951 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72557952 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72557954 |
POR
|
Health Risk |
Likely pathogenic |
Congenital adrenal hyperplasia, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis |
| RS72557956 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72557961 |
POR
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency |
| RS72558026 |
SCN1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Ventricular fibrillation, Brugada syndrome 5 |
| RS72558181 |
MAT1A
|
Health Risk |
Pathogenic |
Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency |
| RS72558191 |
CYP2C9
|
Health Risk |
Pathogenic |
Warfarin response, Warfarin response |
| RS72558196 |
CYP2C8
|
Health Risk |
Pathogenic |
DRUG METABOLISM, ALTERED |
| RS72558199 |
ABCC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Dubin-Johnson syndrome, ABCC2-related disorder |
| RS72558200 |
ABCC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Dubin-Johnson syndrome, ABCC2-related disorder |
| RS72558201 |
ABCC2
|
Health Risk |
Pathogenic |
Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS72558202 |
ABCC2
|
Health Risk |
Likely pathogenic |
Dubin-Johnson syndrome, ABCC2-related disorder |
| RS72558403 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558404 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558405 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72558406 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, OTC-related disorder |
| RS72558407 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558408 |
OTC
|
Health Risk |
Likely pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558409 |
OTC
|
Health Risk |
Pathogenic |
— |
| RS72558410 |
OTC
|
Health Risk |
Conflicting classifications of pathogenicity |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558411 |
OTC
|
Health Risk |
Pathogenic |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |
| RS72558412 |
OTC
|
Health Risk |
Conflicting classifications of pathogenicity |
Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency |