| RS2144456484 |
AXIN2
|
Health Risk |
Pathogenic |
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144456529 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2144456685 |
NUP93
|
Health Risk |
Likely pathogenic |
Nephrotic syndrome, type 12 |
| RS2144456730 |
AXIN2
|
Health Risk |
Pathogenic |
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144457016 |
AXIN2
|
Health Risk |
Likely pathogenic |
AXIN2-related attenuated familial adenomatous polyposis, AXIN2-related attenuated familial adenomatous polyposis |
| RS2144457222 |
AXIN2
|
Health Risk |
Pathogenic |
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144460572 |
RNF213
|
Health Risk |
Pathogenic |
Moyamoya disease, Moyamoya disease |
| RS2144460694 |
AXIN2
|
Health Risk |
Pathogenic |
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144460841 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2144461109 |
MALT1
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2144461122 |
AXIN2
|
Health Risk |
Likely pathogenic |
AXIN2-related attenuated familial adenomatous polyposis, AXIN2-related attenuated familial adenomatous polyposis |
| RS2144462978 |
AXIN2
|
Health Risk |
Pathogenic |
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144463053 |
AXIN2
|
Health Risk |
Pathogenic |
— |
| RS2144463649 |
AXIN2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2144465819 |
AXIN2
|
Health Risk |
Pathogenic |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2144468895 |
AXIN2
|
Health Risk |
Likely pathogenic |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2144473450 |
SMAD4
|
Health Risk |
Likely pathogenic |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
| RS2144474088 |
SMAD4
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2144474365 |
SMAD2
|
Health Risk |
Pathogenic |
— |
| RS2144474485 |
SMAD4
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2144475422 |
AXIN2
|
Health Risk |
Likely pathogenic |
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144475594 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2144477057 |
AXIN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Colorectal cancer, Oligodontia-cancer predisposition syndrome |
| RS2144478377 |
SMAD4
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2144478656 |
SMAD4
|
Health Risk |
Pathogenic/Likely pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
| RS2144478869 |
SMAD4
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome |
| RS2144478902 |
SMAD4
|
Health Risk |
Pathogenic |
Juvenile polyposis syndrome, Juvenile polyposis syndrome |
| RS2144478938 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Colorectal carcinoma |
| RS2144479914 |
SMAD4
|
Health Risk |
Likely pathogenic |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome |
| RS2144479975 |
SMAD4
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome |
| RS2144484602 |
MALT1
|
Health Risk |
Likely pathogenic |
Severe combined immunodeficiency disease, Severe combined immunodeficiency disease |
| RS2144484668 |
MALT1
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2144488030 |
RNF213
|
Health Risk |
Pathogenic |
— |
| RS2144491203 |
MALT1
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency |
| RS2144493097 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144493135 |
SGCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144493323 |
SGCA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144493345 |
SGCA
|
Health Risk |
Likely pathogenic |
Abnormality of the musculature, Abnormality of the musculature |
| RS2144493427 |
SGCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144494074 |
SGCA
|
Health Risk |
Likely pathogenic |
Abnormality of the musculature, Abnormality of the musculature |
| RS2144494148 |
SGCA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144494297 |
SGCA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144494642 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144495228 |
SGCA
|
Health Risk |
Pathogenic |
Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144496721 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144497138 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144497920 |
TK2
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome |
| RS2144498121 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144498132 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144498403 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144498569 |
SGCA
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144499916 |
AXIN2
|
Health Risk |
Pathogenic |
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144500829 |
AXIN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Oligodontia-cancer predisposition syndrome, Colorectal cancer |
| RS2144500924 |
SGCA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144500999 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2144501024 |
SGCA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144501029 |
SGCA
|
Health Risk |
Pathogenic |
— |
| RS2144501172 |
SGCA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144502043 |
SGCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS2144506286 |
CACNA1A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 42 |
| RS2144506487 |
CACNA1A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 42 |
| RS2144512684 |
HYDIN
|
Health Risk |
Likely pathogenic |
— |
| RS2144516632 |
HCN2
|
Health Risk |
Conflicting classifications of pathogenicity |
HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS2144518363 |
CYP4F22
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5 |
| RS2144519137 |
HCN2
|
Health Risk |
Conflicting classifications of pathogenicity |
HCN2 related developmental and epileptic encephalopathy, HCN2 related developmental and epileptic encephalopathy |
| RS2144522176 |
GREB1L
|
Health Risk |
Pathogenic |
Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3 |
| RS2144522815 |
HCN2
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental delay, HCN2 related developmental and epileptic encephalopathy |
| RS2144523407 |
CACNA1A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 52 |
| RS2144524396 |
CACNA1A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 42 |
| RS2144524434 |
CACNA1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 42 |
| RS2144524536 |
CACNA1A
|
Health Risk |
Pathogenic |
— |
| RS2144524927 |
CACNA1A
|
Health Risk |
Pathogenic |
— |
| RS2144525222 |
CACNA1A
|
Health Risk |
Likely pathogenic |
— |
| RS2144529623 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144530119 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS2144531133 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS2144531821 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144532190 |
COL1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144534276 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae |
| RS2144534312 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, perinatal lethal |
| RS2144534607 |
COL1A1
|
Health Risk |
Pathogenic |
— |
| RS2144534686 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144534853 |
COL1A1
|
Health Risk |
Likely pathogenic |
— |
| RS2144534897 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144534929 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS2144535299 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144535495 |
CACNA1A
|
Health Risk |
Likely pathogenic |
Episodic ataxia type 2, Developmental and epileptic encephalopathy |
| RS2144535840 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 |
| RS2144536044 |
CACNA1A
|
Health Risk |
Pathogenic |
— |
| RS2144536202 |
CACNA1A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 42 |
| RS2144536639 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144536796 |
COL1A1
|
Health Risk |
Pathogenic |
— |
| RS2144537008 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta with normal sclerae |
| RS2144537122 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144537204 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144537386 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2144537730 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144539233 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS2144540259 |
AXIN2
|
Health Risk |
Likely pathogenic |
Colorectal cancer, Oligodontia-cancer predisposition syndrome |
| RS2144540270 |
AXIN2
|
Health Risk |
Likely pathogenic |
Colorectal cancer, Colorectal cancer |