| RS104894789 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS104894790 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, X-linked DMD-related dystrophinopathy |
| RS104894792 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS104894793 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS104894794 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS104894795 |
EBP
|
Health Risk |
Pathogenic |
MEND syndrome, MEND syndrome |
| RS104894796 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS104894797 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Dilated cardiomyopathy 3B |
| RS104894798 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Chondrodysplasia punctata 2 X-linked dominant |
| RS104894799 |
EBP
|
Health Risk |
Pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Thyroid cancer |
| RS104894800 |
EBP
|
Health Risk |
Pathogenic/Likely pathogenic |
Chondrodysplasia punctata 2 X-linked dominant, Connective tissue disorder |
| RS104894801 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS104894802 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS104894803 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS104894804 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS104894805 |
EMD
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS104894806 |
EMD
|
Health Risk |
Conflicting classifications of pathogenicity |
X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy |
| RS104894808 |
GATA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Thrombocytopenia, X-linked |
| RS104894809 |
GATA1
|
Health Risk |
Pathogenic |
Beta-thalassemia-X-linked thrombocytopenia syndrome, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis |
| RS104894810 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS104894811 |
GJB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS104894812 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS104894813 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS104894814 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS104894815 |
GATA1
|
Health Risk |
Pathogenic |
Thrombocytopenia, X-linked |
| RS104894816 |
GATA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombocytopenia, X-linked |
| RS104894817 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease |
| RS104894818 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS104894819 |
GJB1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS104894820 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease |
| RS104894821 |
GJB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS104894822 |
GJB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS104894823 |
GJB1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease |
| RS104894824 |
GJB1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease |
| RS104894825 |
GJB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X |
| RS104894826 |
GJB1
|
Health Risk |
Pathogenic |
Dejerine-Sottas disease, Charcot-Marie-Tooth disease X-linked dominant 1 |
| RS104894827 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, GLA-related disorder |
| RS104894828 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, cardiac variant |
| RS104894829 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS104894830 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, cardiac variant |
| RS104894831 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Fabry disease |
| RS104894832 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Fabry disease |
| RS104894833 |
GLA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fabry disease, Cardiovascular phenotype |
| RS104894834 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Cardiovascular phenotype |
| RS104894835 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS104894836 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS104894838 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS104894839 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Fabry disease |
| RS104894840 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS104894841 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS104894842 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS104894843 |
GLA
|
Health Risk |
Likely pathogenic |
Fabry disease, GLA-related disorder |
| RS104894844 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS104894845 |
GLA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fabry disease, Cardiomyopathy |
| RS104894846 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, cardiac variant |
| RS104894847 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, cardiac variant |
| RS104894848 |
GLA
|
Health Risk |
Likely pathogenic |
Fabry disease, Fabry disease |
| RS104894849 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, GLA-related disorder |
| RS104894851 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS104894852 |
GLA
|
Health Risk |
Pathogenic |
Fabry disease, Fabry disease |
| RS104894853 |
IDS
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS104894854 |
GPC3
|
Health Risk |
Pathogenic |
Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS104894855 |
GPC3
|
Health Risk |
Pathogenic |
Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1 |
| RS104894856 |
IDS
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS104894857 |
LAMP2
|
Health Risk |
Pathogenic |
Danon disease, Danon disease |
| RS104894858 |
LAMP2
|
Health Risk |
Pathogenic |
Danon disease, Hypertrophic cardiomyopathy |
| RS104894860 |
IDS
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS104894861 |
IDS
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS104894862 |
IDS
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-II |
| RS104894863 |
IDS
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis, MPS-II |
| RS104894864 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS104894865 |
MID1
|
Health Risk |
Pathogenic |
X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS104894866 |
MID1
|
Health Risk |
Pathogenic |
X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome |
| RS104894867 |
NDP
|
Health Risk |
Conflicting classifications of pathogenicity |
Atrophia bulborum hereditaria, Hearing impairment |
| RS104894868 |
NDP
|
Health Risk |
Likely pathogenic |
Atrophia bulborum hereditaria, Exudative vitreoretinopathy 2 |
| RS104894869 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894870 |
NDP
|
Health Risk |
Likely pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894871 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894872 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894873 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894874 |
NDP
|
Health Risk |
Pathogenic |
Exudative vitreoretinopathy, X-linked |
| RS104894875 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894876 |
NDP
|
Health Risk |
Pathogenic |
Exudative vitreoretinopathy 2, X-linked |
| RS104894877 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Retinal dystrophy |
| RS104894878 |
NDP
|
Health Risk |
Pathogenic/Likely pathogenic |
Exudative vitreoretinopathy 2, X-linked |
| RS104894879 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894880 |
NDP
|
Health Risk |
Likely pathogenic |
Atrophia bulborum hereditaria, Retinal dystrophy |
| RS104894881 |
NHS
|
Health Risk |
Pathogenic |
Nance-Horan syndrome, Nance-Horan syndrome |
| RS104894882 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894883 |
NDP
|
Health Risk |
Pathogenic |
Atrophia bulborum hereditaria, Atrophia bulborum hereditaria |
| RS104894884 |
NDUFA1
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 12 |
| RS104894885 |
NDUFA1
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 12 |
| RS104894886 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894887 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894888 |
NR0B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894889 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894890 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894891 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894892 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |
| RS104894894 |
NR0B1
|
Health Risk |
Pathogenic |
Congenital adrenal hypoplasia, X-linked |