| RS2151437742 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437747 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437777 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151437785 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437833 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437835 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2151437838 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437862 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437874 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437896 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437897 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437904 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437911 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151437918 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437941 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151437959 |
NF1
|
Health Risk |
Pathogenic |
Abnormality of the skin, Abnormality of the skin |
| RS2151437977 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438011 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151438016 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438021 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS2151438068 |
AP3B2
|
Health Risk |
Likely pathogenic |
— |
| RS2151438075 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438079 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438081 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151438517 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151438524 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438526 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438543 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438600 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438635 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438640 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438695 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151438700 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151440929 |
AP3B2
|
Health Risk |
Pathogenic |
— |
| RS2151441246 |
AP3B2
|
Health Risk |
Pathogenic |
— |
| RS2151441655 |
AP3B2
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 48 |
| RS2151444781 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151444797 |
ACSF3
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS2151445155 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151446681 |
TSC2
|
Health Risk |
Pathogenic |
— |
| RS2151449531 |
AP3B2
|
Health Risk |
Likely pathogenic |
— |
| RS2151451319 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151451369 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151451431 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151451647 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151451661 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151451681 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151451687 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151451697 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151451702 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151453936 |
ACSF3
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS2151454690 |
ACSF3
|
Health Risk |
Pathogenic/Likely pathogenic |
Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia |
| RS2151455445 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome |
| RS2151456652 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151456849 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151458037 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151459190 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151459858 |
TSC2
|
Health Risk |
Likely pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151461734 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151461771 |
NF1
|
Health Risk |
Pathogenic |
Cafe au lait spots, multiple |
| RS2151461796 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151461802 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151461842 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151461863 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151461869 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151461902 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151461905 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151461937 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151461951 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151461956 |
NF1
|
Health Risk |
Pathogenic |
Tibial pseudarthrosis, Tibial pseudarthrosis |
| RS2151462008 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151462037 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2151462060 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151462078 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151462146 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151462156 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151462189 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151462210 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151462525 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151462945 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151462979 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS2151462990 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2151462997 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151463037 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151463053 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151463107 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151463132 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151463141 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151463168 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151463199 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151464490 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151464499 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151464529 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151464627 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151464653 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151464701 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151464705 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151464719 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2151464729 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS2151464832 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |