| RS2508306370 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508306468 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508308450 |
SLC46A1
|
Health Risk |
Likely pathogenic |
Congenital defect of folate absorption, Congenital defect of folate absorption |
| RS2508312089 |
ELAC2
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2508313935 |
ELAC2
|
Health Risk |
Likely pathogenic |
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2508314332 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508315272 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508315342 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508315455 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508315633 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508316951 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508317139 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508317962 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508318094 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508318485 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508320212 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508327423 |
ACADVL
|
Health Risk |
Likely pathogenic |
— |
| RS2508329971 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508330212 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508334817 |
PARN
|
Health Risk |
Pathogenic |
Pulmonary fibrosis, Pulmonary fibrosis |
| RS2508339892 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508341139 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508341183 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508341426 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508341456 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508344039 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508344385 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508345221 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508345503 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508346463 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508347728 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508348438 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508348872 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508349575 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508350443 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508350455 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508350535 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508350728 |
ACADVL
|
Health Risk |
Pathogenic |
ACADVL-related disorder, ACADVL-related disorder |
| RS2508350738 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508351213 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508351233 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508351292 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508351352 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508352015 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508352498 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508352618 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508352628 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508352865 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508352902 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508352971 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508353112 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508353313 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508353883 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508354202 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508354753 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508354964 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508355015 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508356671 |
TAOK1
|
Health Risk |
Pathogenic |
Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development |
| RS2508357253 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508357355 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508360592 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508361079 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508361555 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508361633 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508361920 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508361978 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508363673 |
GALNS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS2508363789 |
TEKT3
|
Health Risk |
Pathogenic |
Spermatogenic failure 81, Spermatogenic failure 81 |
| RS2508364664 |
GALNS
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis, MPS-IV-A |
| RS2508366039 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508366072 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508366215 |
GALNS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS2508367317 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508367351 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508367418 |
GALNS
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS2508367512 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508367866 |
GALNS
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS2508369819 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508371162 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508371476 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508372907 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508373035 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508373061 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508373099 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508373591 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2508377566 |
FRMD5
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with eye movement abnormalities and ataxia, Neurodevelopmental disorder with eye movement abnormalities and ataxia |
| RS2508377588 |
FRMD5
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with eye movement abnormalities and ataxia, Neurodevelopmental disorder with eye movement abnormalities and ataxia |
| RS2508390123 |
ELAC2
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2508391449 |
ELAC2
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2508398433 |
ELAC2
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2508407582 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508407905 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508407940 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508408123 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508408259 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508408383 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508408412 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508408497 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508408599 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508408921 |
FANCI
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group I, Fanconi anemia |