| RS1554405928 |
AGK
|
Health Risk |
Pathogenic/Likely pathogenic |
Cataract 38, Sengers syndrome |
| RS1554405935 |
AGK
|
Health Risk |
Pathogenic |
Sengers syndrome, Sengers syndrome |
| RS1554405947 |
AGK
|
Health Risk |
Likely pathogenic |
Sengers syndrome, Sengers syndrome |
| RS1554406255 |
LAMB1
|
Health Risk |
Likely pathogenic |
— |
| RS1554406947 |
STAG3
|
Health Risk |
Likely pathogenic |
— |
| RS1554407511 |
ABCB4
|
Health Risk |
Pathogenic |
Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3 |
| RS1554409350 |
ABCB4
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1554410681 |
SYNE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive ataxia, Beauce type |
| RS1554411026 |
LAMB1
|
Health Risk |
Likely pathogenic |
— |
| RS1554411224 |
CPA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary pancreatitis, Hereditary pancreatitis |
| RS1554411234 |
DDC
|
Health Risk |
Likely pathogenic |
Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase |
| RS1554411684 |
XRCC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1554412300 |
FOXP2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554413532 |
XRCC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1554414122 |
SYNE1
|
Health Risk |
Likely pathogenic |
— |
| RS1554414710 |
IMPDH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 10, Retinal dystrophy |
| RS1554415096 |
WEE2
|
Health Risk |
Pathogenic |
Oocyte maturation defect 5, Oocyte maturation defect 5 |
| RS1554416016 |
CNTNAP2
|
Health Risk |
Likely pathogenic |
— |
| RS1554416415 |
WEE2
|
Health Risk |
Pathogenic |
Oocyte maturation defect 5, Oocyte maturation defect 5 |
| RS1554416461 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1554417054 |
KIAA1549
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1554417376 |
ABCB4
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1554420018 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1554420177 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1554420583 |
POT1
|
Health Risk |
Pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1554421987 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS1554423346 |
KCNH2
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1554423487 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1554423863 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome 2, Long QT syndrome 2 |
| RS1554423871 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS1554424042 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554424044 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome, Cardiac arrhythmia |
| RS1554424060 |
KCNH2
|
Health Risk |
Pathogenic |
— |
| RS1554424062 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554424063 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554424070 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS1554424079 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554424083 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Cardiovascular phenotype |
| RS1554424085 |
KCNH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Long QT syndrome |
| RS1554424091 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS1554424107 |
KCNH2
|
Health Risk |
Pathogenic |
— |
| RS1554424138 |
KCNH2
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Congenital long QT syndrome |
| RS1554424254 |
KCNH2
|
Health Risk |
Pathogenic |
— |
| RS1554424390 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS1554424403 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1554424620 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS1554424671 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554424688 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554424772 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome 1/2, digenic |
| RS1554424829 |
KCNH2
|
Health Risk |
Pathogenic |
— |
| RS1554424849 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS1554425146 |
KCNH2
|
Health Risk |
Pathogenic |
— |
| RS1554425149 |
KCNH2
|
Health Risk |
Likely pathogenic |
Long QT syndrome, Cardiovascular phenotype |
| RS1554425226 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554425277 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1554425284 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554425320 |
KCNH2
|
Health Risk |
Likely pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554425486 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554425498 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome 2, Long QT syndrome 2 |
| RS1554425527 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554425569 |
KCNH2
|
Health Risk |
Likely pathogenic |
Long QT syndrome 2, Long QT syndrome 2 |
| RS1554425724 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1554425762 |
KCNH2
|
Health Risk |
Likely pathogenic |
— |
| RS1554425806 |
KCNH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome, Long QT syndrome 2 |
| RS1554425880 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome 2 |
| RS1554425955 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1554426219 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554426244 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS1554426258 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome 2, Long QT syndrome |
| RS1554426966 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1554427012 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1554427317 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554427416 |
RELN
|
Health Risk |
Conflicting classifications of pathogenicity |
Norman-Roberts syndrome, Familial temporal lobe epilepsy 7 |
| RS1554427596 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS1554427692 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1554427697 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1554427931 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554427936 |
KCNH2
|
Health Risk |
Likely pathogenic |
— |
| RS1554427943 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554428170 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554428173 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554428178 |
KCNH2
|
Health Risk |
Pathogenic |
— |
| RS1554428238 |
KCNH2
|
Health Risk |
Likely pathogenic |
— |
| RS1554429205 |
POT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Tumor predisposition syndrome 3, Tumor predisposition syndrome 3 |
| RS1554429221 |
POT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1554430850 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Long QT syndrome |
| RS1554430908 |
KCNH2
|
Health Risk |
Pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554430943 |
KCNH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 2, Long QT syndrome |
| RS1554430962 |
KCNH2
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1554431441 |
KCNH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Long QT syndrome, Long QT syndrome |
| RS1554434400 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS1554434435 |
CAMK2B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 54 |
| RS1554434768 |
POT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Tumor predisposition syndrome 3 |
| RS1554434788 |
POT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome |
| RS1554434794 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal recessive form |
| RS1554434857 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS1554435334 |
CLCN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myotonia, autosomal dominant form |
| RS1554436419 |
CLCN1
|
Health Risk |
Pathogenic |
Congenital myotonia, autosomal dominant form |
| RS1554436427 |
CLCN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myotonia, autosomal dominant form |
| RS1554436510 |
CLCN1
|
Health Risk |
Conflicting classifications of pathogenicity |
EMG: myotonic discharges, Myotonia |