| RS786204895 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786204898 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786204899 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786204900 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS786204901 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786204902 |
PTEN
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cowden syndrome 1 |
| RS786204903 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS786204904 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786204905 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS786204906 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS786204910 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS786204912 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786204914 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS786204916 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS786204921 |
LOC130004273;KLLN;PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786204922 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS786204927 |
PTEN
|
Health Risk |
Pathogenic/Likely pathogenic |
PTEN hamartoma tumor syndrome, Loss of consciousness |
| RS786204928 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS786204929 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS786204930 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS786204931 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Cowden syndrome 1 |
| RS786204933 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS786204934 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS786204937 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS786204941 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS786204950 |
ACTN2
|
Health Risk |
Pathogenic |
Cardiomyopathy, familial hypertrophic |
| RS786204951 |
ACTN2
|
Health Risk |
Pathogenic |
Cardiomyopathy, familial hypertrophic |
| RS786204962 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS786204963 |
CDKL5
|
Health Risk |
Conflicting classifications of pathogenicity |
Atypical Rett syndrome, Inborn genetic diseases |
| RS786204964 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS786204965 |
CDKL5
|
Health Risk |
Likely pathogenic |
CDKL5 disorder, CDKL5 disorder |
| RS786204966 |
CDKL5
|
Health Risk |
Likely pathogenic |
Atypical Rett syndrome, CDKL5 disorder |
| RS786204967 |
CDKL5
|
Health Risk |
Pathogenic |
Epileptic encephalopathy, Inborn genetic diseases |
| RS786204968 |
CDKL5
|
Health Risk |
Likely pathogenic |
Atypical Rett syndrome, CDKL5 disorder |
| RS786204969 |
CDKL5
|
Health Risk |
Pathogenic |
Atypical Rett syndrome, Developmental and epileptic encephalopathy |
| RS786204970 |
CDKL5
|
Health Risk |
Likely pathogenic |
Atypical Rett syndrome, CDKL5 disorder |
| RS786204971 |
CDKL5
|
Health Risk |
Likely pathogenic |
CDKL5 disorder, CDKL5 disorder |
| RS786204972 |
CDKL5
|
Health Risk |
Pathogenic |
Atypical Rett syndrome, CDKL5 disorder |
| RS786204973 |
CDKL5
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS786204974 |
CDKL5
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS786204975 |
CDKL5
|
Health Risk |
Pathogenic |
Atypical Rett syndrome, CDKL5 disorder |
| RS786204976 |
CDKL5
|
Health Risk |
Pathogenic |
Atypical Rett syndrome, Developmental and epileptic encephalopathy |
| RS786204977 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS786204978 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS786204979 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS786204980 |
CDKL5
|
Health Risk |
Likely pathogenic |
CDKL5 disorder, CDKL5 disorder |
| RS786204981 |
CDKL5
|
Health Risk |
Likely pathogenic |
Atypical Rett syndrome, CDKL5 disorder |
| RS786204982 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS786204983 |
CDKL5
|
Health Risk |
Pathogenic |
Atypical Rett syndrome, Developmental and epileptic encephalopathy |
| RS786204984 |
CDKL5
|
Health Risk |
Pathogenic |
Atypical Rett syndrome, Developmental and epileptic encephalopathy |
| RS786204985 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS786204986 |
CDKL5
|
Health Risk |
Likely pathogenic |
Atypical Rett syndrome, CDKL5 disorder |
| RS786204987 |
CDKL5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 2 |
| RS786204988 |
CDKL5
|
Health Risk |
Likely pathogenic |
Atypical Rett syndrome, CDKL5 disorder |
| RS786204989 |
CDKL5
|
Health Risk |
Pathogenic |
Atypical Rett syndrome, Developmental and epileptic encephalopathy |
| RS786204990 |
CDKL5
|
Health Risk |
Likely pathogenic |
Atypical Rett syndrome, CDKL5 disorder |
| RS786204992 |
CDKL5
|
Health Risk |
Likely pathogenic |
Atypical Rett syndrome, CDKL5 disorder |
| RS786204998 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS786204999 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS786205000 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS786205001 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, Rett syndrome |
| RS786205003 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS786205004 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS786205005 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, Inborn genetic diseases |
| RS786205006 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS786205007 |
FOXG1
|
Health Risk |
Conflicting classifications of pathogenicity |
FOXG1 disorder, FOXG1 disorder |
| RS786205008 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS786205009 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS786205010 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS786205011 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS786205019 |
MECP2
|
Health Risk |
Pathogenic |
Attention deficit hyperactivity disorder, Rett syndrome |
| RS786205020 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS786205025 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS786205027 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS786205028 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS786205030 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS786205031 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS786205037 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS786205038 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS786205042 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS786205043 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS786205045 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Inborn genetic diseases |
| RS786205047 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS786205048 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly |
| RS786205049 |
MECP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Rett syndrome, See cases |
| RS786205050 |
CACNA1H
|
Health Risk |
Pathogenic |
Primary aldosteronism, Hyperaldosteronism |
| RS786205051 |
USB1
|
Health Risk |
Pathogenic |
Poikiloderma with neutropenia, Poikiloderma with neutropenia |
| RS786205052 |
DNAAF1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS786205053 |
CPOX
|
Health Risk |
Pathogenic |
Coproporphyria, CPOX-related disorder |
| RS786205054 |
CPOX
|
Health Risk |
Pathogenic |
Coproporphyria, Coproporphyria |
| RS786205055 |
PLEKHM1
|
Health Risk |
Pathogenic |
Autosomal recessive osteopetrosis 6, Autosomal recessive osteopetrosis 6 |
| RS786205056 |
ATP13A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78 |
| RS786205058 |
TMPRSS6
|
Health Risk |
Pathogenic |
Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS786205059 |
TMPRSS6
|
Health Risk |
Pathogenic |
Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS786205060 |
TMPRSS6
|
Health Risk |
Pathogenic |
Iron-refractory iron deficiency anemia, Iron-refractory iron deficiency anemia |
| RS786205061 |
CYP17A1
|
Health Risk |
Pathogenic |
17-alpha-hydroxylase/17, 20-lyase deficiency |
| RS786205062 |
CYP17A1
|
Health Risk |
Pathogenic |
17-alpha-hydroxylase/17, 20-lyase deficiency |
| RS786205063 |
HJV
|
Health Risk |
Pathogenic/Likely pathogenic |
Hemochromatosis type 2A, Hemochromatosis type 2A |
| RS786205065 |
CLN6
|
Health Risk |
Pathogenic |
Ceroid lipofuscinosis, neuronal |
| RS786205067 |
CLN6
|
Health Risk |
Pathogenic |
Ceroid lipofuscinosis, neuronal |