| RS137852739 |
RETREG1
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory and autonomic |
| RS137852740 |
IRS2
|
Health Risk |
risk factor |
Type 2 diabetes mellitus, Type 2 diabetes mellitus |
| RS137852741 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852742 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852743 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852744 |
BMPR2
|
Health Risk |
Likely pathogenic |
Pulmonary hypertension, primary |
| RS137852745 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852746 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852747 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852748 |
BMPR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Pulmonary hypertension, primary |
| RS137852749 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852750 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852751 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852752 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852753 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852755 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary venoocclusive disease 1, Primary pulmonary hypertension |
| RS137852756 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS137852757 |
LAMA3
|
Health Risk |
Pathogenic |
Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa |
| RS137852759 |
MRE11
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS137852760 |
MRE11
|
Health Risk |
Conflicting classifications of pathogenicity |
Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS137852761 |
MRE11
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Hereditary cancer-predisposing syndrome |
| RS137852762 |
MRE11
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder |
| RS137852763 |
MRE11
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1 |
| RS137852766 |
CDKN1C
|
Health Risk |
Pathogenic |
Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome |
| RS137852767 |
SDHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS137852768 |
SDHA
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency |
| RS137852769 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, LCHAD deficiency with maternal acute fatty liver of pregnancy |
| RS137852770 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS137852771 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| RS137852772 |
HADHA
|
Health Risk |
Pathogenic |
Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency |
| RS137852774 |
HADHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS137852775 |
HADHA
|
Health Risk |
Pathogenic |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency |
| RS137852776 |
EFHC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Myoclonic epilepsy, juvenile |
| RS137852778 |
EFHC1
|
Health Risk |
risk factor |
Myoclonic epilepsy, juvenile |
| RS137852779 |
EFHC1
|
Health Risk |
risk factor |
Absence seizure, Absence seizure |
| RS137852780 |
EFHC1
|
Health Risk |
risk factor |
Absence seizure, Absence seizure |
| RS137852781 |
EFHC1
|
Health Risk |
risk factor |
Myoclonic epilepsy, juvenile |
| RS137852782 |
DSC3
|
Health Risk |
Pathogenic |
Hereditary hypotrichosis with recurrent skin vesicles, Hereditary hypotrichosis with recurrent skin vesicles |
| RS137852783 |
PDX1
|
Health Risk |
Conflicting classifications of pathogenicity |
Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 4 |
| RS137852786 |
PDX1
|
Health Risk |
risk factor |
Diabetes mellitus type 2, susceptibility to |
| RS137852787 |
PDX1
|
Health Risk |
Conflicting classifications of pathogenicity |
Maturity-onset diabetes of the young type 4, Monogenic diabetes |
| RS137852790 |
TP53
|
Health Risk |
Pathogenic |
Sarcoma, Li-Fraumeni syndrome |
| RS137852795 |
UROC1
|
Health Risk |
Pathogenic |
Urocanate hydratase deficiency, Urocanate hydratase deficiency |
| RS137852796 |
UROC1
|
Health Risk |
Pathogenic |
Urocanate hydratase deficiency, Urocanate hydratase deficiency |
| RS137852797 |
GM2A
|
Health Risk |
Pathogenic |
Tay-Sachs disease, variant AB |
| RS137852798 |
CHRNA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myasthenic syndrome 1A, Lethal multiple pterygium syndrome |
| RS137852800 |
CHRNA1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 1A, Congenital myasthenic syndrome 1A |
| RS137852801 |
CHRNA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 1A, Lethal multiple pterygium syndrome |
| RS137852802 |
CHRNA1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 1A, Congenital myasthenic syndrome 1A |
| RS137852803 |
CHRNA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myasthenic syndrome 1A, Inborn genetic diseases |
| RS137852804 |
CHRNA1
|
Health Risk |
Pathogenic |
Myasthenic syndrome, congenital |
| RS137852805 |
CHRNA1
|
Health Risk |
Likely pathogenic |
Myasthenic syndrome, congenital |
| RS137852806 |
CHRNA1
|
Health Risk |
Pathogenic |
Myasthenic syndrome, congenital |
| RS137852807 |
CHRNA1
|
Health Risk |
Pathogenic |
Myasthenic syndrome, congenital |
| RS137852808 |
CHRNA1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 1A, Congenital myasthenic syndrome 1A |
| RS137852810 |
CHRNB1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2C |
| RS137852811 |
CHRNB1
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 2A, See cases |
| RS137852812 |
SOS1
|
Health Risk |
Likely pathogenic |
Noonan syndrome 4, Noonan syndrome |
| RS137852813 |
SOS1
|
Health Risk |
Pathogenic |
Noonan syndrome 4, Noonan syndrome |
| RS137852814 |
SOS1
|
Health Risk |
Likely pathogenic |
Noonan syndrome 4, Noonan syndrome |
| RS137852815 |
CASK
|
Health Risk |
Pathogenic |
Syndromic X-linked intellectual disability Najm type, Intellectual disability |
| RS137852816 |
CASK
|
Health Risk |
Pathogenic |
FG syndrome 4, FG syndrome 4 |
| RS137852817 |
CASK
|
Health Risk |
Conflicting classifications of pathogenicity |
FG syndrome 4, Intellectual disability |
| RS137852818 |
CASK
|
Health Risk |
Likely pathogenic |
FG syndrome 4, Syndromic X-linked intellectual disability Najm type |
| RS137852819 |
CASK
|
Health Risk |
Pathogenic |
FG syndrome 4, FG syndrome 4 |
| RS137852820 |
CASK
|
Health Risk |
Conflicting classifications of pathogenicity |
FG syndrome 4, Syndromic X-linked intellectual disability Najm type |
| RS137852821 |
PCSK1
|
Health Risk |
Pathogenic |
Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency |
| RS137852822 |
PCSK1
|
Health Risk |
Pathogenic |
Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency |
| RS137852823 |
PCSK1
|
Health Risk |
Pathogenic |
Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency |
| RS137852824 |
PCSK1
|
Health Risk |
Pathogenic |
Obesity due to prohormone convertase I deficiency, Obesity due to prohormone convertase I deficiency |
| RS137852825 |
FBN2
|
Health Risk |
Likely pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS137852826 |
FBN2
|
Health Risk |
Pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS137852827 |
FBN2
|
Health Risk |
Pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS137852828 |
FBN2
|
Health Risk |
Likely pathogenic |
Congenital contractural arachnodactyly, Congenital contractural arachnodactyly |
| RS137852829 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS137852830 |
ANK1
|
Health Risk |
Pathogenic |
Hereditary spherocytosis type 1, Hereditary spherocytosis type 1 |
| RS137852831 |
ANK1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spherocytosis type 1, ANK1-related disorder |
| RS137852832 |
CEP290
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 5, Meckel-Gruber syndrome |
| RS137852833 |
CEP290
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 10, Nephronophthisis |
| RS137852834 |
CEP290
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 10, Joubert syndrome 5 |
| RS137852835 |
CEP290
|
Health Risk |
Pathogenic |
Meckel syndrome, type 4 |
| RS137852836 |
BBS10
|
Health Risk |
Conflicting classifications of pathogenicity |
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10 |
| RS137852837 |
BBS10
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome |
| RS137852838 |
BBS10
|
Health Risk |
Conflicting classifications of pathogenicity |
Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10 |
| RS137852839 |
WHRN
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome |
| RS137852840 |
WHRN
|
Health Risk |
Pathogenic |
Usher syndrome type 2D, Usher syndrome type 2D |
| RS137852841 |
CCM2
|
Health Risk |
Pathogenic |
Cerebral cavernous malformation 2, Cerebral cavernous malformation 2 |
| RS137852842 |
CCM2
|
Health Risk |
Pathogenic |
Cerebral cavernous malformation 2, Cerebral cavernous malformation 2 |
| RS137852843 |
CCM2
|
Health Risk |
Pathogenic |
Cerebral cavernous malformation 2, Cerebral cavernous malformation 2 |
| RS137852844 |
SUMF1
|
Health Risk |
Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852845 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852846 |
SUMF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852847 |
SUMF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852848 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852849 |
SUMF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852850 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852851 |
SUMF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852852 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852853 |
SUMF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS137852854 |
SUMF1
|
Health Risk |
Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |