| RS1581800912 |
ALDH5A1
|
Health Risk |
Likely pathogenic |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1581802715 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS1581805658 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS1581805747 |
DDX41
|
Health Risk |
Pathogenic |
— |
| RS1581805788 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS1581806935 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1581807379 |
ALDH5A1
|
Health Risk |
Likely pathogenic |
— |
| RS1581808463 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1581809567 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS1581809655 |
PKHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1581810497 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1581811762 |
PKHD1
|
Health Risk |
Pathogenic |
— |
| RS1581812192 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1581813359 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype |
| RS1581813420 |
DSP
|
Health Risk |
Likely pathogenic |
— |
| RS1581813564 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiomyopathy, Cardiovascular phenotype |
| RS1581815207 |
ALDH5A1
|
Health Risk |
Likely pathogenic |
Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1 |
| RS1581815342 |
MMUT
|
Health Risk |
Pathogenic |
— |
| RS1581815603 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathy |
| RS1581815654 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS1581816089 |
DSP
|
Health Risk |
Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy |
| RS1581816570 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS1581817513 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic right ventricular cardiomyopathy, Cardiovascular phenotype |
| RS1581818649 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Lethal acantholytic epidermolysis bullosa, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS1581819043 |
DSP
|
Health Risk |
Pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS1581819081 |
MMUT
|
Health Risk |
Pathogenic |
METHYLMALONIC ACIDURIA, mut(0) TYPE |
| RS1581819950 |
ALDH5A1
|
Health Risk |
Likely pathogenic |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1581820081 |
NEU1
|
Health Risk |
Pathogenic |
Sialidosis type 2, Sialidosis type 2 |
| RS1581823904 |
DSP
|
Health Risk |
Likely pathogenic |
— |
| RS1581823931 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiac arrhythmia, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma |
| RS1581824066 |
DSP
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8 |
| RS1581825892 |
DSP
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1581827172 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS1581827709 |
ALDH5A1
|
Health Risk |
Likely pathogenic |
Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency |
| RS1581829739 |
EFHC1
|
Health Risk |
association |
Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy |
| RS1581832011 |
MMUT
|
Health Risk |
Likely pathogenic |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency |
| RS1581834906 |
MMUT
|
Health Risk |
Pathogenic |
— |
| RS1581842283 |
FKBP5
|
Health Risk |
risk factor |
Asthma, Asthma |
| RS1581894576 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS1581910796 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1581910835 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1581928360 |
PKHD1
|
Health Risk |
Pathogenic |
— |
| RS1581930130 |
CUL7
|
Health Risk |
Pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS1581931439 |
RPS10
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS1581931541 |
RPS10
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia 9, Diamond-Blackfan anemia 9 |
| RS1581955260 |
PKHD1
|
Health Risk |
Likely pathogenic |
— |
| RS1581956689 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1581962986 |
CUL7
|
Health Risk |
Pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS1581971388 |
SLC17A5
|
Health Risk |
Pathogenic |
Salla disease, Salla disease |
| RS1581972457 |
LHFPL5
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 67, Ear malformation |
| RS1581974348 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1581980317 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581986872 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581987022 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581987268 |
SYNGAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581987445 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581987476 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581987885 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581987902 |
SYNGAP1
|
Health Risk |
Pathogenic |
SYNGAP1-related disorder, SYNGAP1-related disorder |
| RS1581991929 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581992099 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581992845 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1581992998 |
SYNGAP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581995425 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581995453 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581995609 |
SYNGAP1
|
Health Risk |
Pathogenic |
— |
| RS1581995953 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581996778 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581996813 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581997098 |
SYNGAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1581997228 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1581998105 |
SYNGAP1
|
Health Risk |
Pathogenic |
Microcephaly, Epileptic encephalopathy |
| RS1581999471 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1582001015 |
SYNGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 5 |
| RS1582002018 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1582013246 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1582024232 |
MYO6
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22 |
| RS1582024305 |
PKHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1582025807 |
COL12A1
|
Health Risk |
Likely pathogenic |
Abnormality of connective tissue, Abnormality of connective tissue |
| RS1582030118 |
NHLRC1
|
Health Risk |
Likely pathogenic |
— |
| RS1582038191 |
PKHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1582043186 |
ELOVL4
|
Health Risk |
Likely pathogenic |
— |
| RS1582046125 |
PNPLA1
|
Health Risk |
Pathogenic |
Congenital ichthyosiform erythroderma, Lamellar ichthyosis |
| RS1582053820 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1582064292 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant polycystic liver disease, Autosomal recessive polycystic kidney disease |
| RS1582064844 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal dominant polycystic liver disease, Autosomal recessive polycystic kidney disease |
| RS1582068925 |
COL12A1
|
Health Risk |
Pathogenic |
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS1582078740 |
PNPLA1
|
Health Risk |
Pathogenic |
Congenital ichthyosiform erythroderma, Autosomal recessive congenital ichthyosis 10 |
| RS1582079626 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa, Retinitis pigmentosa |
| RS1582081682 |
PNPLA1
|
Health Risk |
Pathogenic |
Congenital ichthyosiform erythroderma, Congenital ichthyosiform erythroderma |
| RS1582082104 |
PHIP
|
Health Risk |
Pathogenic |
— |
| RS1582085757 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS1582086407 |
PNPLA1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10 |
| RS1582094334 |
RUNX2
|
Health Risk |
Pathogenic |
— |
| RS1582095109 |
RUNX2
|
Health Risk |
Pathogenic |
Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1582100341 |
PHIP
|
Health Risk |
Pathogenic/Likely pathogenic |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |
| RS1582105016 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS1582105417 |
RUNX2
|
Health Risk |
Pathogenic |
Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1582111125 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS1582111930 |
PHIP
|
Health Risk |
Pathogenic |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome |