| RS886039867 |
USH2A
|
Health Risk |
Likely pathogenic |
Usher syndrome type 2A, Retinitis pigmentosa 39 |
| RS886039868 |
CD46
|
Health Risk |
Pathogenic |
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly |
| RS886039869 |
CFH
|
Health Risk |
Conflicting classifications of pathogenicity |
Hemolytic uremic syndrome, atypical |
| RS886039870 |
SLC12A1
|
Health Risk |
Likely pathogenic |
Bartter disease type 1, Bartter disease type 1 |
| RS886039871 |
CRB1
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 8, Leber congenital amaurosis 8 |
| RS886039872 |
ABHD12
|
Health Risk |
Likely pathogenic |
PHARC syndrome, PHARC syndrome |
| RS886039875 |
BBS9
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9 |
| RS886039877 |
ABCC8
|
Health Risk |
Likely pathogenic |
Hyperinsulinemic hypoglycemia, familial |
| RS886039878 |
GDF5
|
Health Risk |
Likely pathogenic |
Brachydactyly type C, Brachydactyly type C |
| RS886039880 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS886039881 |
CHD7
|
Health Risk |
Likely pathogenic |
Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia |
| RS886039882 |
ABCA4
|
Health Risk |
Pathogenic/Likely pathogenic |
Cone-rod dystrophy 3, Cone-rod dystrophy 3 |
| RS886039883 |
AGL
|
Health Risk |
Likely pathogenic |
Glycogen storage disease type III, Glycogen storage disease type III |
| RS886039886 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS886039887 |
JAG1
|
Health Risk |
Pathogenic |
Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation |
| RS886039888 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS886039890 |
COL4A5
|
Health Risk |
Pathogenic |
X-linked Alport syndrome, X-linked Alport syndrome |
| RS886039893 |
ADGRV1
|
Health Risk |
Pathogenic |
Usher syndrome type 2C, Usher syndrome type 2C |
| RS886039894 |
NAGLU
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS886039895 |
NAGLU
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis, MPS-III-B |
| RS886039896 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Abnormality of the musculature |
| RS886039897 |
PRMT7
|
Health Risk |
Pathogenic |
Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS886039898 |
CTSA
|
Health Risk |
Conflicting classifications of pathogenicity |
Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase |
| RS886039899 |
PURA
|
Health Risk |
Likely pathogenic |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
| RS886039900 |
AHDC1
|
Health Risk |
Pathogenic |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome |
| RS886039902 |
ANKRD11
|
Health Risk |
Pathogenic/Likely pathogenic |
KBG syndrome, Global developmental delay |
| RS886039903 |
FGF12
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 47 |
| RS886039904 |
GJC2
|
Health Risk |
Likely pathogenic |
Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2 |
| RS886039905 |
COL6A2
|
Health Risk |
Likely pathogenic |
Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A |
| RS886039906 |
F8
|
Health Risk |
Likely pathogenic |
Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS886039908 |
GPC3
|
Health Risk |
Likely pathogenic |
Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS886039909 |
HSPG2
|
Health Risk |
Likely pathogenic |
Schwartz-Jampel syndrome, Schwartz-Jampel syndrome |
| RS886039911 |
RPGRIP1
|
Health Risk |
Likely pathogenic |
Leber congenital amaurosis 6, Leber congenital amaurosis 6 |
| RS886039913 |
TTN
|
Health Risk |
Likely pathogenic |
Muscular dystrophy, Dilated cardiomyopathy 1G |
| RS886039914 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS886039915 |
CHD4
|
Health Risk |
Pathogenic |
Sifrim-Hitz-Weiss syndrome, Inborn genetic diseases |
| RS886039916 |
CHD4
|
Health Risk |
Pathogenic |
Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS886039917 |
CHD4
|
Health Risk |
Pathogenic |
Sifrim-Hitz-Weiss syndrome, Uterine corpus endometrial carcinoma |
| RS886039918 |
CHD4
|
Health Risk |
Pathogenic/Likely pathogenic |
Sifrim-Hitz-Weiss syndrome, Inborn genetic diseases |
| RS886039919 |
CHD4
|
Health Risk |
Pathogenic |
Sifrim-Hitz-Weiss syndrome, Sifrim-Hitz-Weiss syndrome |
| RS886039920 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039921 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039922 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039923 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039924 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039925 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039926 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039927 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039928 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039929 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039930 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039931 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039932 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039933 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039934 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039935 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039936 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039937 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039938 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039939 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS886039940 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039941 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039942 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039943 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039945 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039946 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039947 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS886039949 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039950 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039951 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039952 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039953 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039954 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039955 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039956 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039957 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |
| RS886039959 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039960 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039961 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039962 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039963 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039965 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039966 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039967 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039968 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039969 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039970 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039971 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039973 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039974 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039975 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039976 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039977 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039978 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039979 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039980 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039981 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039982 |
BRCA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Breast-ovarian cancer, familial |
| RS886039983 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS886039984 |
BRCA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Breast-ovarian cancer, familial |