| RS2518620804 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518620815 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518620859 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2518620928 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518620953 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518621109 |
LZTR1
|
Health Risk |
Likely pathogenic |
LZTR1-related disorder, LZTR1-related disorder |
| RS2518621130 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518621615 |
LZTR1
|
Health Risk |
Likely pathogenic |
LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome |
| RS2518621642 |
PHEX
|
Health Risk |
Pathogenic |
— |
| RS2518621757 |
LZTR1
|
Health Risk |
Pathogenic |
Noonan syndrome 2, Noonan syndrome 2 |
| RS2518621763 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518621771 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518621809 |
LZTR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518621881 |
PHEX
|
Health Risk |
Pathogenic |
— |
| RS2518621901 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518621922 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518621930 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518621948 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518621967 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518621982 |
LZTR1
|
Health Risk |
Pathogenic/Likely pathogenic |
LZTR1-related schwannomatosis, Schwannomatosis |
| RS2518622030 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518622053 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518622321 |
LZTR1
|
Health Risk |
Likely pathogenic |
LZTR1-related schwannomatosis, LZTR1-related schwannomatosis |
| RS2518622326 |
LZTR1
|
Health Risk |
Pathogenic/Likely pathogenic |
LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome |
| RS2518622334 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518622339 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518622424 |
LZTR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518622446 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518622465 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518622518 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518622522 |
LZTR1
|
Health Risk |
Likely pathogenic |
LZTR1-related schwannomatosis, LZTR1-related schwannomatosis |
| RS2518622570 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518622579 |
LZTR1
|
Health Risk |
Pathogenic |
LZTR1-related schwannomatosis, Cardiovascular phenotype |
| RS2518622595 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518622598 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518622659 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518622665 |
GPR143
|
Health Risk |
Pathogenic |
GPR143-related foveal hypoplasia, GPR143-related foveal hypoplasia |
| RS2518622680 |
GPR143
|
Health Risk |
Pathogenic |
Ocular albinism, type I |
| RS2518623181 |
NF2
|
Health Risk |
Likely pathogenic |
Neurofibromatosis, type 2 |
| RS2518623423 |
DEPDC5
|
Health Risk |
Pathogenic |
Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci |
| RS2518623610 |
DEPDC5
|
Health Risk |
Likely pathogenic |
Epilepsy, familial focal |
| RS2518623764 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518623958 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518623978 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518624074 |
LZTR1
|
Health Risk |
Likely pathogenic |
LZTR1-related schwannomatosis, LZTR1-related schwannomatosis |
| RS2518624096 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518624359 |
LZTR1
|
Health Risk |
Pathogenic/Likely pathogenic |
LZTR1-related schwannomatosis, Cardiovascular phenotype |
| RS2518624405 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518624441 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518624465 |
LZTR1
|
Health Risk |
Likely pathogenic |
LZTR1-related disorder, LZTR1-related disorder |
| RS2518624593 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518624615 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518624625 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518624656 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518624695 |
LZTR1
|
Health Risk |
Likely pathogenic |
LZTR1-related schwannomatosis, LZTR1-related schwannomatosis |
| RS2518624711 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518624776 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518625597 |
LZTR1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518625645 |
LZTR1
|
Health Risk |
Pathogenic/Likely pathogenic |
LZTR1-related schwannomatosis, Cardiovascular phenotype |
| RS2518625687 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518625696 |
LZTR1
|
Health Risk |
Pathogenic |
Schwannomatosis, Schwannomatosis |
| RS2518625748 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518625761 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518625794 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518625795 |
LZTR1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518625842 |
LZTR1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518625857 |
LZTR1
|
Health Risk |
Likely pathogenic |
LZTR1-related disorder, LZTR1-related disorder |
| RS2518625979 |
LZTR1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2518626005 |
LZTR1
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518626034 |
LZTR1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518626048 |
LZTR1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518626069 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518626145 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518626151 |
LZTR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2518626174 |
LZTR1
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518626192 |
LZTR1
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2518626591 |
LZTR1
|
Health Risk |
Pathogenic |
— |
| RS2518626710 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518626744 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518626831 |
GPR143
|
Health Risk |
Pathogenic/Likely pathogenic |
Ocular albinism, type I |
| RS2518626868 |
GPR143
|
Health Risk |
Likely pathogenic |
— |
| RS2518626922 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518630262 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518637181 |
GPR143
|
Health Risk |
Likely pathogenic |
— |
| RS2518638150 |
GPR143
|
Health Risk |
Likely pathogenic |
Nystagmus 6, congenital |
| RS2518638213 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518641943 |
GPR143
|
Health Risk |
Likely pathogenic |
Ocular albinism, type I |
| RS2518641960 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518642062 |
GPR143
|
Health Risk |
Pathogenic |
Nystagmus 6, congenital |
| RS2518642222 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518642442 |
GPR143
|
Health Risk |
Pathogenic |
Ocular albinism, type I |
| RS2518642453 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518642463 |
GPR143
|
Health Risk |
Pathogenic |
— |
| RS2518642504 |
GPR143
|
Health Risk |
Pathogenic |
GPR143-related disorder, GPR143-related disorder |
| RS2518643813 |
OFD1;TRAPPC2
|
Health Risk |
Pathogenic |
Spondyloepiphyseal dysplasia tarda, X-linked |
| RS2518644198 |
TRAPPC2
|
Health Risk |
Pathogenic |
— |
| RS2518646021 |
PCNT
|
Health Risk |
Pathogenic |
— |
| RS2518646448 |
NF2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2518646706 |
NF2
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 2 |
| RS2518647010 |
HPS4
|
Health Risk |
Likely pathogenic |
Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4 |