| RS1559441723 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1559441760 |
BARD1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1559441846 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1559443648 |
TGFBR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy |
| RS1559443652 |
TGFBR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy |
| RS1559444690 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Hematuria |
| RS1559444716 |
COL7A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica |
| RS1559446852 |
TTN
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559448864 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559449398 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS1559450594 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS1559451052 |
SETD5
|
Health Risk |
Pathogenic |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS1559452572 |
MANF
|
Health Risk |
Pathogenic |
Diabetes, deafness |
| RS1559454402 |
BARD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1559455208 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS1559455617 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1559456419 |
UNC80
|
Health Risk |
Pathogenic |
— |
| RS1559456531 |
TGFBR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy |
| RS1559456557 |
TGFBR2
|
Health Risk |
Uncertain significance/Uncertain risk allele |
Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy |
| RS1559458806 |
TGFBR2
|
Health Risk |
Uncertain significance/Uncertain risk allele |
Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy |
| RS1559466824 |
TGFBR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2 |
| RS1559467821 |
TGFBR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS1559468403 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS1559469421 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559470315 |
CTNNB1
|
Health Risk |
Likely pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS1559472349 |
TGFBR2
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection |
| RS1559474040 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS1559474311 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS1559474364 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS1559474557 |
CTNNB1;LOC126806659
|
Health Risk |
Likely pathogenic |
Colorectal cancer, Colorectal cancer |
| RS1559474966 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS1559477241 |
CTNNB1
|
Health Risk |
Likely pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, CTNNB1-related disorder |
| RS1559477798 |
KIF1A
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 30, Neuropathy |
| RS1559478415 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS1559480099 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Alport syndrome, Autosomal recessive Alport syndrome |
| RS1559480432 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS1559482299 |
COL4A4
|
Health Risk |
Conflicting classifications of pathogenicity |
COL4A4-related disorder, Autosomal recessive Alport syndrome |
| RS1559484149 |
LARS2
|
Health Risk |
Likely pathogenic |
Perrault syndrome 4, Perrault syndrome 4 |
| RS1559490694 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559491398 |
TTN
|
Health Risk |
Pathogenic |
— |
| RS1559493506 |
COL4A4
|
Health Risk |
Pathogenic |
Hematuria, benign familial |
| RS1559496157 |
SETD5
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS1559496505 |
SETD5
|
Health Risk |
Likely pathogenic |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency |
| RS1559500363 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS1559500757 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1559500884 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS1559500980 |
SETD5
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1559503562 |
COL4A4
|
Health Risk |
Pathogenic |
— |
| RS1559506261 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, hereditary nonpolyposis |
| RS1559508134 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Benign familial hematuria, Autosomal recessive Alport syndrome |
| RS1559510978 |
COLQ
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1559511788 |
COLQ
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1559515075 |
COL4A4
|
Health Risk |
Likely pathogenic |
Benign familial hematuria, Autosomal recessive Alport syndrome |
| RS1559515185 |
COL4A4
|
Health Risk |
Likely pathogenic |
— |
| RS1559519107 |
COLQ
|
Health Risk |
Pathogenic |
Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5 |
| RS1559521007 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559521039 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1559523949 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1559524070 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1559524405 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1559526692 |
KIF1A
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 30, Neuropathy |
| RS1559527796 |
KIF1A
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 30, Neuropathy |
| RS1559530507 |
AMT
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1559530646 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1559534072 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1559534672 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1559534696 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1559536156 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559539068 |
MLH1
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS1559539489 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1559539862 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1559543768 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms |
| RS1559544064 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1559544297 |
MLH1
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Lynch syndrome |
| RS1559544313 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS1559551447 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, hereditary nonpolyposis |
| RS1559551570 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS1559553492 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1559553501 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1559554339 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1559556267 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS1559558071 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS1559558400 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1559561666 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1559563141 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS1559563525 |
COL4A4
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Benign familial hematuria |
| RS1559567942 |
AGXT
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type I |
| RS1559568801 |
AGXT
|
Health Risk |
Likely pathogenic |
Primary hyperoxaluria, type I |
| RS1559569975 |
COL4A4
|
Health Risk |
Pathogenic |
Autosomal recessive Alport syndrome, Benign familial hematuria |
| RS1559573882 |
NEB
|
Health Risk |
Pathogenic/Likely pathogenic |
Nemaline myopathy, Nemaline myopathy 2 |
| RS1559574795 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1559575107 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome |
| RS1559575143 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1559575256 |
MLH1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1559578408 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1559578422 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS1559578814 |
MLH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1559580467 |
NEB
|
Health Risk |
Pathogenic |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1559583375 |
GPD1L
|
Health Risk |
Conflicting classifications of pathogenicity |
Brugada syndrome, Cardiovascular phenotype |
| RS1559585465 |
BAP1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |