| RS2539071106 |
ENG
|
Health Risk |
Likely pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539071297 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539071301 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539071312 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539071463 |
TSC1
|
Health Risk |
Likely pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539071725 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539072627 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539072629 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539072683 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539072708 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539072710 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539072755 |
ENG
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary hemorrhagic telangiectasia, Telangiectasia |
| RS2539072759 |
ENG
|
Health Risk |
Pathogenic |
— |
| RS2539072820 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539072864 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539072878 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539072906 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539072924 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539072930 |
ENG
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539072936 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539073045 |
ENG
|
Health Risk |
Likely pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539073079 |
ENG
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539073111 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539073125 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539073130 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539073237 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539073270 |
ENG
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539073294 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539073321 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539073850 |
ENG
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539073996 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539074005 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539074028 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539074102 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539074151 |
DNM1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 31A |
| RS2539074167 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539074209 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539074367 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539074394 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539074422 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539075137 |
TSC1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2539075688 |
ENG
|
Health Risk |
Likely pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539075870 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539075914 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539076020 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539076056 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539076078 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539076160 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539076166 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539076176 |
ENG
|
Health Risk |
Pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS2539077004 |
HPS1
|
Health Risk |
Pathogenic |
— |
| RS2539077107 |
HPS1
|
Health Risk |
Pathogenic |
— |
| RS2539077593 |
ENG
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539077645 |
ENG
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539077688 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539077729 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539077738 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539077773 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539077822 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539077878 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539077898 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539077901 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539077908 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539078164 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539078181 |
ENG
|
Health Risk |
Likely pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539078254 |
OPTN
|
Health Risk |
Likely pathogenic |
— |
| RS2539078287 |
HPS1
|
Health Risk |
Pathogenic |
— |
| RS2539078435 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539080991 |
POMT1
|
Health Risk |
Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
| RS2539082925 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539082926 |
ENG
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539083090 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539083201 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539083217 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539083228 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539083269 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539083284 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539083336 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539083352 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539088969 |
SETX
|
Health Risk |
Pathogenic |
Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia |
| RS2539091124 |
PLEC
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 5C, with pyloric atresia |
| RS2539107064 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539107148 |
ENG
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2539107399 |
ENG
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539107437 |
ENG
|
Health Risk |
Likely pathogenic |
Hereditary hemorrhagic telangiectasia, Telangiectasia |
| RS2539107590 |
ENG
|
Health Risk |
Likely pathogenic |
Telangiectasia, hereditary hemorrhagic |
| RS2539107650 |
ENG
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539107670 |
ENG
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia |
| RS2539107745 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS2539110399 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539111862 |
POMT1
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2539111893 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539112315 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539113178 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome |
| RS2539114080 |
POMT1
|
Health Risk |
Likely pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 |
| RS2539114371 |
DNM1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 31A |
| RS2539114415 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539114783 |
POMT1
|
Health Risk |
Likely pathogenic |
Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability) |
| RS2539115108 |
TSC1
|
Health Risk |
Pathogenic |
Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2539124114 |
SETX
|
Health Risk |
Likely pathogenic |
— |