| RS2508408947 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508409130 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508409190 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508409237 |
NF1
|
Health Risk |
Pathogenic |
NF1-related disorder, NF1-related disorder |
| RS2508409389 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508409412 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508409495 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508409543 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508409622 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508413490 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508413521 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508413593 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508413685 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508413820 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508413974 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508414007 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508414069 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508414138 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508414176 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508414223 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2508414236 |
NF1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508414309 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508417068 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508417397 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508420575 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508420715 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508420738 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508420784 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508420793 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508421014 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508421108 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508421152 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508421255 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508421316 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508421404 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508421622 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508421776 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508421944 |
NF1
|
Health Risk |
Likely pathogenic |
— |
| RS2508421977 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2508421997 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508422023 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508422206 |
NF1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508423710 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508424775 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508426674 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508427451 |
FOXN1
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2508427515 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508428231 |
FANCI
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2508428819 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508429106 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508429143 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508429181 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508429253 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508429316 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508429324 |
NF1
|
Health Risk |
Likely pathogenic |
— |
| RS2508429352 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508429357 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508429390 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508429477 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508429629 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508429710 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2508429713 |
FOXN1
|
Health Risk |
Likely pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508429754 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508429880 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508430018 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508430486 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508430515 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508430563 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508430596 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508430611 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508430656 |
NF1
|
Health Risk |
Pathogenic |
NF1-related disorder, Neurofibromatosis |
| RS2508430678 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508430762 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508430861 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508430968 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508431005 |
FOXN1
|
Health Risk |
Pathogenic |
T-cell immunodeficiency, congenital alopecia |
| RS2508431431 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508434662 |
COX10
|
Health Risk |
Likely pathogenic |
Mitochondrial complex IV deficiency, nuclear type 3 |
| RS2508437853 |
MYH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Myopathy, proximal |
| RS2508440925 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508442009 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508445234 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508445251 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508445372 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
NF1-related disorder, Neurofibromatosis |
| RS2508445397 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508445477 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508445494 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2508445558 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2508445662 |
NF1
|
Health Risk |
Likely pathogenic |
— |
| RS2508445730 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2508445965 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2508449104 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508460975 |
FANCI
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group I, Fanconi anemia complementation group I |
| RS2508469124 |
MYH2
|
Health Risk |
Pathogenic |
Myopathy, proximal |
| RS2508495239 |
ANK2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS2508495416 |
PARN
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal recessive 6 |
| RS2508506729 |
FANCI
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2508509632 |
FANCI
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2508510399 |
FANCI
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2508535286 |
SUZ12
|
Health Risk |
Pathogenic |
— |