| RS2508750032 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508750072 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508751004 |
STAT5B
|
Health Risk |
Pathogenic |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive |
| RS2508752805 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508752816 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508752855 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508752880 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508752894 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508752953 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508753045 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508753088 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508753325 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508753348 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508753416 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508753433 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508753466 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508753527 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508753671 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508753796 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508753938 |
EFTUD2
|
Health Risk |
Pathogenic |
Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508753953 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508753958 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508754122 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, familial spinal |
| RS2508754127 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508754189 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2508754209 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508754237 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508754245 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508754480 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508754521 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508754527 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508754707 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508756879 |
KRT16
|
Health Risk |
Likely pathogenic |
Palmoplantar keratoderma, nonepidermolytic |
| RS2508757047 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508757242 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508757277 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508757295 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508757398 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508758891 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508758949 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508758967 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508759114 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508759139 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508759219 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508759221 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508759271 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508759379 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508759396 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508759534 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2508759645 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508759734 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508759771 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508759785 |
NF1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508759885 |
NF1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508762315 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508762371 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508762441 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508762485 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508762628 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508762828 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508762858 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508762897 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508762950 |
EFTUD2
|
Health Risk |
Pathogenic |
Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis |
| RS2508762963 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508763025 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508763044 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, familial spinal |
| RS2508763064 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508763076 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508763112 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508763208 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508763224 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508763235 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508763320 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508766687 |
EFTUD2
|
Health Risk |
Pathogenic |
— |
| RS2508767056 |
EFTUD2
|
Health Risk |
Likely pathogenic |
Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508767267 |
EFTUD2
|
Health Risk |
Likely pathogenic |
Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508767298 |
EFTUD2
|
Health Risk |
Likely pathogenic |
Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508769931 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508769940 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508770046 |
NF1
|
Health Risk |
Likely pathogenic |
— |
| RS2508770065 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508770141 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508770185 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508770195 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508770270 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508770430 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508770438 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508770502 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508770630 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508770760 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508776887 |
STAT5B
|
Health Risk |
Pathogenic |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive |
| RS2508779204 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508779274 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508779466 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508779500 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508779612 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508779631 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508779836 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508780018 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508780045 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |