| RS2493700635 |
KCNQ1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS2493700660 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2493700787 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome 1, Long QT syndrome 1 |
| RS2493700906 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2493700925 |
KCNQ1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2493701017 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2493702946 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493703119 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS2493703151 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome, Cowden syndrome |
| RS2493703312 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493703364 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493703391 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS2493703428 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493703524 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493704771 |
CDH23
|
Health Risk |
Likely pathogenic |
Pituitary adenoma 5, multiple types |
| RS2493704899 |
CDH23
|
Health Risk |
Likely pathogenic |
— |
| RS2493705326 |
KCNQ1
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2493705722 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome 1, Long QT syndrome 1 |
| RS2493705755 |
KCNQ1
|
Health Risk |
Pathogenic |
— |
| RS2493705809 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2493706806 |
PTEN
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome |
| RS2493708307 |
KCNQ1
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS2493708534 |
KCNQ1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2493711566 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493711641 |
PTEN
|
Health Risk |
Conflicting classifications of pathogenicity |
PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome |
| RS2493711693 |
PTEN
|
Health Risk |
Likely pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493711728 |
PTEN
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493711738 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493711805 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493711840 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493711876 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493711932 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493711950 |
PTEN
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Cowden syndrome 1 |
| RS2493712011 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493712037 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493712048 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493712124 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493712172 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493712196 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cowden syndrome 1 |
| RS2493712327 |
PTEN
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493715778 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493715911 |
PTEN
|
Health Risk |
Likely pathogenic |
Gastric cancer, Gastric cancer |
| RS2493716056 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493716163 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493716262 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493716294 |
PTEN
|
Health Risk |
Likely pathogenic |
Glioma susceptibility 2, Glioma susceptibility 2 |
| RS2493716332 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, PTEN hamartoma tumor syndrome |
| RS2493716402 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493716509 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493716513 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493716557 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493716582 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493716707 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493716721 |
PTEN
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493716740 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493716823 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493716873 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493716950 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493717033 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493717039 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493717157 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493717216 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493717242 |
PTEN
|
Health Risk |
Likely pathogenic |
Glioma susceptibility 2, Glioma susceptibility 2 |
| RS2493717289 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493717329 |
PTEN
|
Health Risk |
Likely pathogenic |
Glioma susceptibility 2, Glioma susceptibility 2 |
| RS2493717383 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493717435 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, PTEN hamartoma tumor syndrome |
| RS2493717460 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493717485 |
PTEN
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2493717541 |
PTEN
|
Health Risk |
Likely pathogenic |
Macrocephaly-autism syndrome, Macrocephaly-autism syndrome |
| RS2493717607 |
PTEN
|
Health Risk |
Pathogenic |
— |
| RS2493717648 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493717941 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493717973 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Prostate cancer |
| RS2493718038 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493718057 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, Prostate cancer |
| RS2493718073 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493718152 |
PTEN
|
Health Risk |
Pathogenic |
Glioma susceptibility 2, Glioma susceptibility 2 |
| RS2493718158 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493718257 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493718282 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493718556 |
PTEN
|
Health Risk |
Pathogenic |
Macrocephaly-autism syndrome, Macrocephaly-autism syndrome |
| RS2493718697 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493718744 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493718775 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493718807 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493718859 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493718905 |
PTEN
|
Health Risk |
Pathogenic |
Prostate cancer, hereditary |
| RS2493718917 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493718947 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493719080 |
PTEN
|
Health Risk |
Likely pathogenic |
Cowden syndrome 1, Prostate cancer |
| RS2493719088 |
PTEN
|
Health Risk |
Likely pathogenic |
Glioma susceptibility 2, Glioma susceptibility 2 |
| RS2493719108 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493719115 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493719154 |
PTEN
|
Health Risk |
Pathogenic |
Bannayan-Riley-Ruvalcaba syndrome, Bannayan-Riley-Ruvalcaba syndrome |
| RS2493719217 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS2493719222 |
PTEN
|
Health Risk |
Pathogenic |
Cowden syndrome 1, Cowden syndrome 1 |
| RS2493719243 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493719289 |
PTEN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2493740568 |
MMP21
|
Health Risk |
Likely pathogenic |
MMP21-related disorder, MMP21-related disorder |