| RS2508695634 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508695658 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508695761 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508695807 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508695819 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508695862 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508695975 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508696222 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508696301 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508696307 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508696394 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508696473 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508696487 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508696544 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508696551 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508696558 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508696599 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508696606 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508696779 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508697143 |
NF1
|
Health Risk |
Pathogenic |
NF1-related disorder, NF1-related disorder |
| RS2508697238 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508697280 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508697323 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508697350 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2508697394 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508697451 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508697574 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508697610 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508697625 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508697639 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2508697869 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508697886 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508697962 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508698053 |
STAT5B
|
Health Risk |
Pathogenic |
— |
| RS2508698085 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508698152 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508698163 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508698181 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508698274 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508698345 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508698353 |
NF1
|
Health Risk |
Likely pathogenic |
Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia |
| RS2508698502 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508698541 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508698639 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508698683 |
NF1
|
Health Risk |
Likely pathogenic |
— |
| RS2508698808 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508698916 |
NF1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508705272 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508705374 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Juvenile myelomonocytic leukemia, Neurofibromatosis |
| RS2508705404 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Juvenile myelomonocytic leukemia, Neurofibromatosis |
| RS2508705455 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508705486 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508705648 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508705680 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508705716 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508705886 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2508705937 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508705955 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508706005 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508706010 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508706041 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508706207 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508706388 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508706492 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508706540 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508706552 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508706695 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508706802 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508706890 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508707011 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508707112 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508707140 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508707174 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508707417 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508707480 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508707525 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508707543 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508707657 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508707724 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508707889 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508707983 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508708026 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508708091 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508708204 |
NF1
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508708323 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508708338 |
NF1
|
Health Risk |
Pathogenic |
NF1-related disorder, NF1-related disorder |
| RS2508708367 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508708520 |
NF1
|
Health Risk |
Likely pathogenic |
NF1-related disorder, NF1-related disorder |
| RS2508711483 |
EFTUD2
|
Health Risk |
Likely pathogenic |
— |
| RS2508713536 |
IFT140
|
Health Risk |
Likely pathogenic |
Saldino-Mainzer syndrome, Saldino-Mainzer syndrome |
| RS2508714004 |
EFTUD2
|
Health Risk |
Pathogenic/Likely pathogenic |
Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508717584 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508717644 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508717670 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508717928 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508718056 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508718162 |
EFTUD2
|
Health Risk |
Pathogenic |
Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |
| RS2508718218 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508718297 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508718340 |
EFTUD2
|
Health Risk |
Pathogenic |
Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome |