| RS2533007564 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2533012339 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533012994 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533013084 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533013171 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533013221 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533013338 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533013352 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533013373 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533013400 |
CTNNA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Patterned macular dystrophy 2, Patterned macular dystrophy 2 |
| RS2533013452 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533015001 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533015150 |
COL12A1
|
Health Risk |
Likely pathogenic |
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS2533015882 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533015969 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533017790 |
CTNNA1
|
Health Risk |
Pathogenic |
— |
| RS2533019856 |
RPS10
|
Health Risk |
Likely pathogenic |
RPS10-related disorder, RPS10-related disorder |
| RS2533020015 |
RHO
|
Health Risk |
Likely pathogenic |
— |
| RS2533020372 |
RHO
|
Health Risk |
Likely pathogenic |
— |
| RS2533026610 |
RHO
|
Health Risk |
Pathogenic |
— |
| RS2533026675 |
RHO
|
Health Risk |
Pathogenic |
— |
| RS2533027083 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533027394 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 25, Retinal dystrophy |
| RS2533028135 |
RHO
|
Health Risk |
Pathogenic |
— |
| RS2533028203 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533028337 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533028594 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533028727 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 25, Retinal dystrophy |
| RS2533028755 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533028837 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533028845 |
EYS
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2533029220 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533029288 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533029550 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533029860 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533030082 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533030270 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533030275 |
EYS
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2533030372 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533030462 |
EYS
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533030608 |
RPS10
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia 9 |
| RS2533031069 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533032427 |
COL12A1
|
Health Risk |
Pathogenic |
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS2533035596 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533036717 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533038081 |
COL12A1
|
Health Risk |
Pathogenic |
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS2533040875 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533040996 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533041363 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533041666 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533042720 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533042732 |
TRIO
|
Health Risk |
Likely pathogenic |
TRIO-related disorder, TRIO-related disorder |
| RS2533043334 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533043904 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2533044092 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533044885 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, APC-related disorder |
| RS2533044956 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533045202 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533046082 |
ITPR3
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease, demyelinating |
| RS2533046248 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533047183 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533048046 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533048356 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533049192 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533049562 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533050121 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533050685 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2533050809 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533051142 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533051546 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533051921 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533052061 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533052419 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533054364 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533055158 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533056153 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533056724 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS2533057039 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533057604 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533058328 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533059110 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533059578 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533060521 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533060558 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533062253 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2533064576 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533065197 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2533068182 |
PKHD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2533069131 |
DNAH8
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2533072538 |
COL12A1
|
Health Risk |
Pathogenic |
Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2 |
| RS2533073430 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2533073814 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533076634 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2533083357 |
JARID2
|
Health Risk |
Likely pathogenic |
— |
| RS2533085924 |
TCOF1
|
Health Risk |
Likely pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2533088256 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533088297 |
EYS
|
Health Risk |
Pathogenic |
— |
| RS2533088531 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533088624 |
EYS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |
| RS2533088748 |
EYS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 25, Retinitis pigmentosa 25 |