| RS2532157652 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532170362 |
CTNNA1
|
Health Risk |
Pathogenic |
— |
| RS2532170453 |
CTNNA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome |
| RS2532171023 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma |
| RS2532171064 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, CTNNA1-related disorder |
| RS2532177853 |
CTNNA1
|
Health Risk |
Pathogenic |
— |
| RS2532178134 |
CTNNA1
|
Health Risk |
Pathogenic |
— |
| RS2532178251 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2532178661 |
CTNNA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532178816 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma |
| RS2532178840 |
CTNNA1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532179542 |
CTNNA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer |
| RS2532179776 |
CTNNA1
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532183675 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2532184386 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2532184856 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532188334 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2532188512 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532189284 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532189765 |
ADAMTS2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532189832 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532189921 |
ADAMTS2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532189944 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532190018 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532190478 |
ADAMTS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532190870 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532192085 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532192621 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532192952 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532193039 |
ADAMTS2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532193077 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532193100 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2532193169 |
ADAMTS2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532193520 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532193653 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532193677 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532193709 |
ADAMTS2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532193734 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532193799 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532193805 |
ADAMTS2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532193871 |
ADAMTS2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, dermatosparaxis type |
| RS2532193953 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532194146 |
MAST4
|
Health Risk |
Likely pathogenic |
Infantile spasms, Infantile spasms |
| RS2532195034 |
ADGRV1
|
Health Risk |
Likely pathogenic |
ADGRV1-related disorder, ADGRV1-related disorder |
| RS2532204989 |
GABRA1
|
Health Risk |
Likely pathogenic |
Epilepsy, idiopathic generalized |
| RS2532205020 |
GABRA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS2532205137 |
GABRA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 19 |
| RS2532226604 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532227148 |
ADGRV1
|
Health Risk |
Pathogenic |
— |
| RS2532239106 |
GABRA1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 19 |
| RS2532239153 |
GABRA1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2532239421 |
GABRA1
|
Health Risk |
Pathogenic |
Idiopathic generalized epilepsy, Epilepsy |
| RS2532239437 |
GABRA1
|
Health Risk |
Likely pathogenic |
Epilepsy, idiopathic generalized |
| RS2532242996 |
TDP2
|
Health Risk |
Pathogenic |
— |
| RS2532243005 |
TDP2
|
Health Risk |
Pathogenic |
— |
| RS2532261315 |
GABRA1
|
Health Risk |
Pathogenic |
Idiopathic generalized epilepsy, Epilepsy |
| RS2532261654 |
GABRA1
|
Health Risk |
Likely pathogenic |
Epilepsy, idiopathic generalized |
| RS2532261795 |
GABRA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Idiopathic generalized epilepsy, Epilepsy |
| RS2532261903 |
GABRA1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 19 |
| RS2532265927 |
TTN
|
Health Risk |
Likely pathogenic |
Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy |
| RS2532268257 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2532269523 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2532270803 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532271005 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532272257 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532273182 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532273575 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2532275583 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532280401 |
GABRA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Epilepsy, idiopathic generalized |
| RS2532280566 |
GABRA1
|
Health Risk |
Pathogenic |
Epilepsy, idiopathic generalized |
| RS2532280628 |
GABRA1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 19 |
| RS2532285665 |
MAK
|
Health Risk |
Pathogenic |
— |
| RS2532288306 |
CYFIP2
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 65 |
| RS2532288408 |
CYFIP2
|
Health Risk |
Likely pathogenic |
— |
| RS2532289956 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532290153 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532290721 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532290807 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532291625 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532292255 |
GABRA1
|
Health Risk |
Pathogenic |
Epilepsy, idiopathic generalized |
| RS2532292328 |
GABRA1
|
Health Risk |
Likely pathogenic |
— |
| RS2532292404 |
GABRA1
|
Health Risk |
Likely pathogenic |
— |
| RS2532293780 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532294443 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532295501 |
GABRA1
|
Health Risk |
Pathogenic |
Epilepsy, idiopathic generalized |
| RS2532295523 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532295635 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532295942 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532297508 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532297994 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532298890 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532299031 |
APC
|
Health Risk |
Pathogenic |
— |
| RS2532299822 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532300904 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532301679 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532301839 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2532302787 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532302934 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532303379 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532303454 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |