| RS2508233369 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508233497 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508234634 |
APRT
|
Health Risk |
Likely pathogenic |
Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency |
| RS2508235802 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508237093 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508237835 |
NF1
|
Health Risk |
Pathogenic |
NF1-related disorder, NF1-related disorder |
| RS2508238251 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508238309 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508239080 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508239202 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508239373 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508239528 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508239588 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508239732 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508239773 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508239971 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508240213 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508240305 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508240527 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508240629 |
NF1
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2508240768 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508240878 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508240990 |
NF1
|
Health Risk |
Likely pathogenic |
Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia |
| RS2508241014 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508241138 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508241183 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508241468 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508247269 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508248996 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508249216 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508249449 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508252304 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508253326 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508253534 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508257270 |
TAOK1
|
Health Risk |
Likely pathogenic |
Developmental delay with or without intellectual impairment or behavioral abnormalities, DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES |
| RS2508257808 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508257885 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508257965 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508258187 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508258444 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508258723 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2508258739 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508258826 |
ACADVL
|
Health Risk |
Likely pathogenic |
ACADVL-related disorder, ACADVL-related disorder |
| RS2508260011 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2508260190 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508260322 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508260442 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508260461 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508260471 |
NF1
|
Health Risk |
Likely pathogenic |
— |
| RS2508260743 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508262559 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508262596 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508263280 |
SLC46A1
|
Health Risk |
Pathogenic |
Congenital defect of folate absorption, Congenital defect of folate absorption |
| RS2508263492 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508263833 |
NF1
|
Health Risk |
Likely pathogenic |
Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia |
| RS2508264180 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508264293 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508264433 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508264746 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508264759 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508264905 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508265040 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508265271 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508265561 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508265880 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508268796 |
TAOK1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2508268872 |
TAOK1
|
Health Risk |
Pathogenic/Likely pathogenic |
TAOK1-related disorder, Inborn genetic diseases |
| RS2508269341 |
TAOK1
|
Health Risk |
Likely pathogenic |
Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508280614 |
GALNS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS2508280933 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508281146 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508281481 |
GALNS
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS2508282514 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508283122 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508283200 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508284485 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508284530 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508284722 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508285029 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508285392 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508288834 |
SLC46A1
|
Health Risk |
Pathogenic |
— |
| RS2508290977 |
TAOK1
|
Health Risk |
Likely pathogenic |
TAOK1-related disorder, TAOK1-related disorder |
| RS2508291267 |
TAOK1
|
Health Risk |
Pathogenic |
Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508296669 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508297103 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508297195 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508297245 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508297411 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508299118 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508299246 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508299927 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508302724 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508303394 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508304063 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508304150 |
TAOK1
|
Health Risk |
Likely pathogenic |
Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities |
| RS2508305134 |
SLC46A1
|
Health Risk |
Likely pathogenic |
— |
| RS2508305314 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508305585 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508305639 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508305732 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |