| RS1555534955 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555534961 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555534964 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555534966 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535022 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555535023 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535027 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555535032 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535041 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555535042 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535044 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1555535050 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535052 |
NF1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555535053 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555535072 |
WWOX
|
Health Risk |
Pathogenic |
— |
| RS1555535156 |
CTCF
|
Health Risk |
Pathogenic |
CTCF-related neurodevelopmental disorder, Inborn genetic diseases |
| RS1555535157 |
CTCF
|
Health Risk |
Pathogenic |
— |
| RS1555535158 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555535159 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535163 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555535171 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555535177 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS1555535179 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535192 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535195 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535398 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555535403 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535407 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555535416 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1555535417 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535434 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535439 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555535448 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555535454 |
ANKRD11
|
Health Risk |
Pathogenic |
Inborn genetic diseases, KBG syndrome |
| RS1555535455 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555535472 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS1555535527 |
FANCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia |
| RS1555535739 |
CTCF
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555536021 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555536023 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555536027 |
NF1
|
Health Risk |
Pathogenic |
— |
| RS1555536030 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536035 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536126 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536130 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555536135 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536334 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555536338 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536340 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536347 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555536352 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536357 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536358 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536359 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1555536361 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS1555536367 |
NF1
|
Health Risk |
Likely pathogenic |
— |
| RS1555536372 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536373 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Neurofibromatosis |
| RS1555536380 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555536390 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group A |
| RS1555536446 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia complementation group A |
| RS1555536683 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536685 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536687 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536689 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1555536692 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555536701 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536703 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Neurofibromatosis |
| RS1555536713 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555536721 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555536724 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536725 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS1555536748 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555536759 |
CTCF
|
Health Risk |
Pathogenic |
— |
| RS1555536765 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536773 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536775 |
NF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555536865 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555536868 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555536882 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536923 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536928 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555536947 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1555537029 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555537032 |
NF1
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 1 |
| RS1555537241 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1555537347 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group A, Fanconi anemia |
| RS1555537451 |
NQO1
|
Health Risk |
Likely pathogenic |
— |
| RS1555537637 |
SPNS2
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Hearing loss |
| RS1555537662 |
TAT
|
Health Risk |
Likely pathogenic |
Tyrosinemia type II, Tyrosinemia type II |
| RS1555537673 |
TAT
|
Health Risk |
Pathogenic |
Tyrosinemia type II, Tyrosinemia type II |
| RS1555537741 |
TAT
|
Health Risk |
Likely pathogenic |
Tyrosinemia type II, Tyrosinemia type II |
| RS1555537814 |
TAT
|
Health Risk |
Likely pathogenic |
Tyrosinemia type II, Tyrosinemia type II |
| RS1555537871 |
TAT
|
Health Risk |
Likely pathogenic |
Tyrosinemia type II, Tyrosinemia type II |
| RS1555537955 |
MYO15A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555538138 |
TAT
|
Health Risk |
Likely pathogenic |
Tyrosinemia type II, Tyrosinemia type II |
| RS1555538144 |
ASPA
|
Health Risk |
Likely pathogenic |
Spongy degeneration of central nervous system, Canavan Disease |
| RS1555538156 |
TAT
|
Health Risk |
Pathogenic |
Tyrosinemia type II, Tyrosinemia type II |
| RS1555538157 |
ASPA
|
Health Risk |
Likely pathogenic |
Spongy degeneration of central nervous system, Spongy degeneration of central nervous system |
| RS1555538531 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |