| RS2532592325 |
GABRG2
|
Health Risk |
Pathogenic |
EPILEPSY, CHILDHOOD ABSENCE |
| RS2532592628 |
GABRG2
|
Health Risk |
Pathogenic |
Febrile seizures, familial |
| RS2532592745 |
GABRG2
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 74 |
| RS2532597676 |
GTPBP2
|
Health Risk |
Pathogenic |
— |
| RS2532600162 |
CUL7
|
Health Risk |
Likely pathogenic |
— |
| RS2532602526 |
CUL7
|
Health Risk |
Pathogenic |
3-M syndrome, 3-M syndrome |
| RS2532602718 |
RHAG
|
Health Risk |
Pathogenic |
Rh-null, regulator type |
| RS2532619002 |
TRIO
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2532625303 |
DOCK2
|
Health Risk |
Pathogenic |
— |
| RS2532626798 |
DOCK2
|
Health Risk |
Pathogenic |
DOCK2 deficiency, DOCK2 deficiency |
| RS2532629067 |
CUL7
|
Health Risk |
Likely pathogenic |
— |
| RS2532629408 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532631156 |
CUL7
|
Health Risk |
Likely pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS2532631206 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532631451 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532632173 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532632649 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532633030 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2532633434 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2532633705 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS2532633944 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS2532639089 |
SOX4
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS2532639300 |
SOX4
|
Health Risk |
Likely pathogenic |
Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS2532639461 |
SOX4
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Coffin-Siris syndrome 10 |
| RS2532639524 |
SOX4
|
Health Risk |
Likely pathogenic |
Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS2532639544 |
SOX4
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS2532640592 |
SOX4
|
Health Risk |
Likely pathogenic |
SOX4-related disorder, SOX4-related disorder |
| RS2532642024 |
SOX4
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 10, Coffin-Siris syndrome 10 |
| RS2532653345 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2532653369 |
MAK
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2532653399 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532654151 |
MAK
|
Health Risk |
Pathogenic |
— |
| RS2532654334 |
MAK
|
Health Risk |
Pathogenic |
— |
| RS2532654647 |
MAK
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 62, Retinitis pigmentosa 62 |
| RS2532655171 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532655785 |
TRIO
|
Health Risk |
Likely pathogenic |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532656629 |
CUL7
|
Health Risk |
Pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS2532656704 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532656855 |
CUL7
|
Health Risk |
Likely pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS2532657267 |
TRIO
|
Health Risk |
Likely pathogenic |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome |
| RS2532657307 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532657662 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS2532661114 |
CUL7
|
Health Risk |
Pathogenic |
— |
| RS2532663080 |
HNRNPH1
|
Health Risk |
Pathogenic |
— |
| RS2532665043 |
CUL7
|
Health Risk |
Likely pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS2532665441 |
CUL7
|
Health Risk |
Pathogenic |
— |
| RS2532670981 |
CUL7
|
Health Risk |
Pathogenic |
— |
| RS2532671828 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2532672976 |
TRIO
|
Health Risk |
Pathogenic |
— |
| RS2532675283 |
TTN
|
Health Risk |
Likely pathogenic |
TTN-related disorder, Cardiovascular phenotype |
| RS2532677253 |
TCOF1
|
Health Risk |
Likely pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2532678254 |
TCOF1
|
Health Risk |
Likely pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2532682220 |
DNAH8
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2532683290 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2532683368 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2532683467 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532684600 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532684725 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532685954 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532686105 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532687403 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532687430 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532687516 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532688074 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532691323 |
CUL7
|
Health Risk |
Pathogenic |
— |
| RS2532691564 |
CUL7
|
Health Risk |
Pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS2532692838 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2532698353 |
CUL7
|
Health Risk |
Pathogenic |
— |
| RS2532698369 |
RSPH9
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2532698441 |
CUL7
|
Health Risk |
Pathogenic |
— |
| RS2532699127 |
CUL7
|
Health Risk |
Likely pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS2532701914 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532702616 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532703067 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532703909 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532704201 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532707173 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532709933 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532710574 |
IFT122
|
Health Risk |
Pathogenic |
Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1 |
| RS2532711449 |
HNRNPH1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects |
| RS2532711553 |
HNRNPH1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects, Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects |
| RS2532711845 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532713098 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532713199 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532713532 |
CUL7
|
Health Risk |
Likely pathogenic |
3M syndrome 1, 3M syndrome 1 |
| RS2532714104 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532715317 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532715912 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532716617 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532717700 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS2532718093 |
CUL7
|
Health Risk |
Pathogenic |
— |
| RS2532718291 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532720668 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2532721071 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2532721743 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2532722658 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532723106 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2532723715 |
TTN
|
Health Risk |
Likely pathogenic |
Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy |
| RS2532725313 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2532725944 |
GABRG2
|
Health Risk |
Pathogenic |
EPILEPSY, CHILDHOOD ABSENCE |