| RS2470674713 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470675068 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470675305 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS2470675479 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2470675573 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS2470675769 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS2470675868 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2470676460 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470676733 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2470676905 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470677720 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470681533 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470682520 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2470682828 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2470684822 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2470693959 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2470708647 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470708774 |
EDAR
|
Health Risk |
Likely pathogenic |
— |
| RS2470708927 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470709513 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470709565 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470719043 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470719334 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470719345 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470719599 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470719712 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470719792 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470721256 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470721359 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470721408 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470725074 |
PPARG
|
Health Risk |
Likely pathogenic |
PPARG-related disorder, PPARG-related disorder |
| RS2470730854 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2470731076 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470732349 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470732425 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2470733622 |
GNAI2
|
Health Risk |
Likely pathogenic |
6 conditions, Neoplasm |
| RS2470738026 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470739291 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2470739404 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470740190 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470740247 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470740493 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470740565 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Neoplasm |
| RS2470740571 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group D2 |
| RS2470742049 |
ITPR1
|
Health Risk |
Likely pathogenic |
— |
| RS2470748717 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470748827 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470752384 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS2470753655 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470753672 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470754013 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470754280 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470754764 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2470755174 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470755512 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470755848 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470756047 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470756105 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470756691 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470757051 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer |
| RS2470757314 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470757430 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470757852 |
MLH1
|
Health Risk |
Likely pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470758072 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470758145 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470758204 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470758405 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470758441 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470758466 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group D2, Fanconi anemia complementation group D2 |
| RS2470758490 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2470758556 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470758691 |
FANCD2
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470759206 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2470759599 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470759676 |
FANCD2
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2470760403 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy |
| RS2470763679 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470764371 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2470774102 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470776873 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS2470778411 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2470778520 |
MLH1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS2470784557 |
CTNNB1
|
Health Risk |
Likely pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470786532 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470787406 |
CTNNB1
|
Health Risk |
Pathogenic |
CTNNB1-related disorder, CTNNB1-related disorder |
| RS2470787474 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470788264 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470790178 |
CTNNB1
|
Health Risk |
Pathogenic |
CTNNB1-related disorder, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470791025 |
CTNNB1
|
Health Risk |
Likely pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470791087 |
SATB1
|
Health Risk |
Likely pathogenic |
Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS2470798474 |
CTNNB1
|
Health Risk |
Pathogenic |
Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome |
| RS2470798662 |
SATB1
|
Health Risk |
Likely pathogenic |
Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies |
| RS2470799025 |
CTNNB1
|
Health Risk |
Pathogenic |
— |
| RS2470803770 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2470804147 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Colorectal cancer |
| RS2470804912 |
TRIP12
|
Health Risk |
Likely pathogenic |
Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2470805048 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2470805072 |
MLH1
|
Health Risk |
Pathogenic |
Colorectal cancer, hereditary nonpolyposis |
| RS2470805115 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2470805527 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |