| RS386833800 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833801 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833803 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833804 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833805 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833806 |
SLC7A7
|
Health Risk |
Pathogenic/Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833807 |
SLC7A7
|
Health Risk |
Pathogenic/Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833808 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833809 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833810 |
SLC7A7
|
Health Risk |
Conflicting classifications of pathogenicity |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833811 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833812 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833813 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833814 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833816 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833817 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833818 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833819 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833821 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833822 |
SLC7A7
|
Health Risk |
Pathogenic/Likely pathogenic |
Lysinuric protein intolerance, SLC7A7-related disorder |
| RS386833823 |
SLC7A7
|
Health Risk |
Pathogenic/Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833824 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833826 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833827 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833828 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833829 |
SLC7A7
|
Health Risk |
Likely pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS386833830 |
TMEM216
|
Health Risk |
Pathogenic/Likely pathogenic |
Meckel syndrome, type 2 |
| RS386833831 |
TMEM216
|
Health Risk |
Pathogenic/Likely pathogenic |
Meckel syndrome, type 2 |
| RS386833832 |
LCT
|
Health Risk |
Pathogenic |
Congenital lactase deficiency, Congenital lactase deficiency |
| RS386833833 |
LCT
|
Health Risk |
Likely pathogenic |
Congenital lactase deficiency, Congenital lactase deficiency |
| RS386833834 |
LCT
|
Health Risk |
Likely pathogenic |
Congenital lactase deficiency, Congenital lactase deficiency |
| RS386833835 |
LCT
|
Health Risk |
Likely pathogenic |
Congenital lactase deficiency, Congenital lactase deficiency |
| RS386833836 |
LCT
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital lactase deficiency, Congenital lactase deficiency |
| RS386833837 |
LCT
|
Health Risk |
Likely pathogenic |
Congenital lactase deficiency, Congenital lactase deficiency |
| RS386833838 |
LCT
|
Health Risk |
Likely pathogenic |
Congenital lactase deficiency, Congenital lactase deficiency |
| RS386833839 |
TYROBP
|
Health Risk |
Likely pathogenic |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
| RS386833840 |
TYROBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
| RS386833842 |
TYROBP
|
Health Risk |
Likely pathogenic |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 |
| RS386833843 |
RECQL4
|
Health Risk |
Pathogenic |
Rapadilino syndrome, Baller-Gerold syndrome |
| RS386833844 |
RECQL4
|
Health Risk |
Pathogenic/Likely pathogenic |
Rapadilino syndrome, Baller-Gerold syndrome |
| RS386833845 |
RECQL4
|
Health Risk |
Pathogenic |
Rothmund-Thomson syndrome, Rapadilino syndrome |
| RS386833846 |
RECQL4
|
Health Risk |
Likely pathogenic |
Rapadilino syndrome, Rapadilino syndrome |
| RS386833847 |
RECQL4
|
Health Risk |
Pathogenic |
Rapadilino syndrome, Baller-Gerold syndrome |
| RS386833848 |
RECQL4
|
Health Risk |
Conflicting classifications of pathogenicity |
Rapadilino syndrome, Baller-Gerold syndrome |
| RS386833849 |
RECQL4
|
Health Risk |
Pathogenic |
Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome |
| RS386833851 |
RECQL4
|
Health Risk |
Pathogenic |
Rapadilino syndrome, Baller-Gerold syndrome |
| RS386833852 |
RECQL4
|
Health Risk |
Pathogenic/Likely pathogenic |
Rapadilino syndrome, Baller-Gerold syndrome |
| RS386833853 |
RECQL4
|
Health Risk |
Likely pathogenic |
Rapadilino syndrome, Rapadilino syndrome |
| RS386833854 |
RECQL4
|
Health Risk |
Likely pathogenic |
Rapadilino syndrome, Rapadilino syndrome |
| RS386833855 |
BCS1L
|
Health Risk |
Conflicting classifications of pathogenicity |
GRACILE syndrome, GRACILE syndrome |
| RS386833856 |
BCS1L
|
Health Risk |
Pathogenic |
GRACILE syndrome, Inborn genetic diseases |
| RS386833857 |
BCS1L
|
Health Risk |
Likely pathogenic |
GRACILE syndrome, GRACILE syndrome |
| RS386833858 |
BCS1L
|
Health Risk |
Likely pathogenic |
GRACILE syndrome, GRACILE syndrome |
| RS386833859 |
GCSH
|
Health Risk |
Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS386833861 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, NPHS1-related disorder |
| RS386833862 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833863 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Nephrotic syndrome |
| RS386833864 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833865 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis |
| RS386833866 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833867 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833869 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833870 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833871 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833872 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833873 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, NPHS1-related disorder |
| RS386833874 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, NPHS1-related disorder |
| RS386833875 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833876 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833877 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833878 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833879 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833880 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Nephrotic syndrome |
| RS386833881 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833882 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Nephrotic syndrome |
| RS386833883 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833884 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833885 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833886 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833887 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Infantile Nephrotic syndrome |
| RS386833888 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833889 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833890 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833891 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833892 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Nephrotic syndrome |
| RS386833893 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833894 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833895 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Nephrotic syndrome |
| RS386833897 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833898 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome |
| RS386833899 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833900 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833901 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Infantile Nephrotic syndrome |
| RS386833902 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833903 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833904 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833905 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833906 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833907 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833908 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |