| RS2151561476 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2151561538 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151561685 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151561738 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151561754 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151561783 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151561787 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151561827 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151561836 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151561874 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151561896 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151561907 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151561981 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151561997 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151562024 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151562057 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151564155 |
CTC1
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, Dyskeratosis congenita |
| RS2151564932 |
ACSF3
|
Health Risk |
Pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS2151564936 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2151564939 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151564961 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151564965 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151565015 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151565023 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151565074 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151565142 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151565168 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151565177 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151565268 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis-Noonan syndrome, Neurofibromatosis-Noonan syndrome |
| RS2151565274 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151565282 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151565309 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151569037 |
TSC2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2 |
| RS2151569238 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151569587 |
CHD3
|
Health Risk |
Conflicting classifications of pathogenicity |
Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome |
| RS2151571212 |
CDK10
|
Health Risk |
Likely pathogenic |
— |
| RS2151572451 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151572511 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151572589 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151572602 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151572659 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151572676 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151572726 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151572751 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2151572876 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151572888 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS2151572890 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151572967 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151573039 |
CHD3
|
Health Risk |
Likely pathogenic |
Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome |
| RS2151573209 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151573795 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151574219 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151574236 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574274 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574380 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574391 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574406 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574416 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574431 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574441 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151574478 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574502 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574538 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574551 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574567 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574617 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574635 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574649 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574678 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151574701 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151575081 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151575311 |
TSC2
|
Health Risk |
Pathogenic |
— |
| RS2151576283 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151576627 |
CDK10
|
Health Risk |
Likely pathogenic |
Al Kaissi syndrome, Al Kaissi syndrome |
| RS2151576756 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151576873 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2151576885 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151576904 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151577030 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151577136 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2151577142 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151577150 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151577375 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151577433 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151577458 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2151580463 |
FANCI
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2151580979 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151580997 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151581029 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151581069 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151581084 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151581134 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151581169 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151581382 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151582146 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151582149 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151582175 |
CHD3
|
Health Risk |
Likely pathogenic |
Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome |
| RS2151582179 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151582195 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151582236 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |