| RS2124359087 |
RERE
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain |
| RS2124359906 |
RERE
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS2124364640 |
RERE
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS2124374558 |
DHDDS
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities |
| RS2124374907 |
DHDDS
|
Health Risk |
Likely pathogenic |
— |
| RS2124375440 |
RERE
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with or without anomalies of the brain, eye |
| RS2124378402 |
PUM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurodevelopmental disorder, Spinocerebellar ataxia 47 |
| RS2124388022 |
OCRL
|
Health Risk |
Pathogenic |
Dent disease type 2, Dent disease type 2 |
| RS2124392540 |
OCRL
|
Health Risk |
Pathogenic |
Dent disease type 2, Dent disease type 2 |
| RS2124396753 |
RHCE
|
Health Risk |
Pathogenic |
RH-NULL, AMORPH TYPE |
| RS2124401750 |
GPC3
|
Health Risk |
Likely pathogenic |
Wilms tumor 1, Wilms tumor 1 |
| RS2124401754 |
GPC3
|
Health Risk |
Likely pathogenic |
Simpson-Golabi-Behmel syndrome type 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS2124401794 |
GPC3
|
Health Risk |
Pathogenic |
Wilms tumor 1, Wilms tumor 1 |
| RS2124401911 |
GPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilms tumor 1, Wilms tumor 1 |
| RS2124402634 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124402639 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124404113 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124404136 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124404250 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124404743 |
OCRL
|
Health Risk |
Likely pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124404819 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124405779 |
OCRL
|
Health Risk |
Pathogenic/Likely pathogenic |
Lowe syndrome, Dent disease type 2 |
| RS2124409486 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124410812 |
OCRL
|
Health Risk |
Pathogenic |
Dent disease type 2, Dent disease type 2 |
| RS2124412853 |
OCRL
|
Health Risk |
Likely pathogenic |
— |
| RS2124412861 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124412922 |
OCRL
|
Health Risk |
Pathogenic |
Dent disease type 2, Dent disease type 2 |
| RS2124412937 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124413117 |
AFF2
|
Health Risk |
Likely pathogenic |
FRAXE, FRAXE |
| RS2124417903 |
OCRL
|
Health Risk |
Likely pathogenic |
— |
| RS2124417909 |
OCRL
|
Health Risk |
Likely pathogenic |
Dent disease type 2, Nonpapillary renal cell carcinoma |
| RS2124418469 |
OCRL
|
Health Risk |
Likely pathogenic |
— |
| RS2124418946 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124419015 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124419087 |
OCRL
|
Health Risk |
Pathogenic/Likely pathogenic |
Lowe syndrome, Dent disease type 2 |
| RS2124425894 |
DHDDS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2124428298 |
OCRL
|
Health Risk |
Likely pathogenic |
Lowe syndrome, Nonpapillary renal cell carcinoma |
| RS2124429127 |
RPL11
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124429140 |
RPL11
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124429146 |
RPL11
|
Health Risk |
Likely pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124429175 |
OCRL
|
Health Risk |
Pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124429183 |
RPL11
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124429282 |
RHCE
|
Health Risk |
Pathogenic |
RH-NULL, AMORPH TYPE |
| RS2124430527 |
OCRL
|
Health Risk |
Pathogenic/Likely pathogenic |
Lowe syndrome, Lowe syndrome |
| RS2124430919 |
RPL11
|
Health Risk |
Likely pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124432051 |
RPL11
|
Health Risk |
Likely pathogenic |
Diamond-Blackfan anemia, Diamond-Blackfan anemia |
| RS2124433466 |
DHDDS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 59, Retinitis pigmentosa 59 |
| RS2124436380 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2124436429 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2124437555 |
SELENON
|
Health Risk |
Likely pathogenic |
— |
| RS2124445408 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124445461 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124445519 |
SLC2A1
|
Health Risk |
Pathogenic |
Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS2124445559 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2124445661 |
SLC2A1
|
Health Risk |
Pathogenic |
Dystonia 9, Dystonia 9 |
| RS2124445695 |
SLC2A1
|
Health Risk |
Likely pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124446193 |
SLC2A1
|
Health Risk |
Likely pathogenic |
— |
| RS2124446209 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124446216 |
SLC2A1
|
Health Risk |
Likely pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124446220 |
SLC2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124446266 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124446296 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124446305 |
SLC2A1
|
Health Risk |
Pathogenic |
Dystonia 9, Dystonia 9 |
| RS2124446431 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124446490 |
SLC2A1
|
Health Risk |
Pathogenic |
Dystonia 9, Dystonia 9 |
| RS2124446500 |
SLC2A1
|
Health Risk |
Likely pathogenic |
Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2 |
| RS2124446605 |
SLC2A1
|
Health Risk |
Likely pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124446919 |
OCRL
|
Health Risk |
Pathogenic |
Developmental cataract, Developmental cataract |
| RS2124447526 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2124447951 |
SLC2A1
|
Health Risk |
Pathogenic |
Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2 |
| RS2124447989 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124448034 |
SELENON
|
Health Risk |
Pathogenic/Likely pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2124448063 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124448112 |
SELENON
|
Health Risk |
Likely pathogenic |
Abnormality of the musculature, Abnormality of the musculature |
| RS2124448295 |
SLC2A1
|
Health Risk |
Likely pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124448369 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124448402 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124448406 |
SLC2A1
|
Health Risk |
Pathogenic |
Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2 |
| RS2124448410 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124448423 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124448824 |
SLC2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Childhood onset GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome 1 |
| RS2124448826 |
SLC2A1
|
Health Risk |
Likely pathogenic |
Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2 |
| RS2124448836 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124448851 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124448988 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124449015 |
SLC2A1
|
Health Risk |
Pathogenic |
Dystonia 9, Encephalopathy due to GLUT1 deficiency |
| RS2124449030 |
SLC2A1
|
Health Risk |
Likely pathogenic |
GLUT1 deficiency syndrome, GLUT1 deficiency syndrome |
| RS2124449089 |
SLC2A1
|
Health Risk |
Likely pathogenic |
Childhood onset GLUT1 deficiency syndrome 2, Childhood onset GLUT1 deficiency syndrome 2 |
| RS2124449099 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124449259 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124449287 |
SLC2A1
|
Health Risk |
Pathogenic |
Dystonia 9, Dystonia 9 |
| RS2124449299 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124449372 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124449417 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124449452 |
SLC2A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Dystonia 9, Dystonia 9 |
| RS2124450060 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124450132 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124450179 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2124450183 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Epilepsy, idiopathic generalized |
| RS2124450273 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |