| RS2524865483 |
ATP1A2
|
Health Risk |
Likely pathogenic |
Familial hemiplegic migraine, Inborn genetic diseases |
| RS2524865640 |
ATP1A2
|
Health Risk |
Pathogenic |
Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524867724 |
ATP1A2
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy 98, Developmental and epileptic encephalopathy 98 |
| RS2524867863 |
ATP1A2
|
Health Risk |
Likely pathogenic |
— |
| RS2524868153 |
ATP1A2
|
Health Risk |
Pathogenic |
Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524868404 |
ATP1A2
|
Health Risk |
Likely pathogenic |
ATP1A2-related disorder, ATP1A2-related disorder |
| RS2524869946 |
ATP1A2
|
Health Risk |
Pathogenic |
Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524872645 |
ATP1A2
|
Health Risk |
Likely pathogenic |
— |
| RS2524873236 |
ATP1A2
|
Health Risk |
Likely pathogenic |
Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524886286 |
ATP1A2
|
Health Risk |
Likely pathogenic |
— |
| RS2524886291 |
ATP1A2
|
Health Risk |
Likely pathogenic |
— |
| RS2524887082 |
ATP1A2
|
Health Risk |
Pathogenic |
Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524887589 |
ATP1A2
|
Health Risk |
Pathogenic |
Fetal akinesia, respiratory insufficiency |
| RS2524887627 |
ATP1A2
|
Health Risk |
Likely pathogenic |
Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524888276 |
GJA8
|
Health Risk |
Conflicting classifications of pathogenicity |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524888314 |
ATP1A2
|
Health Risk |
Likely pathogenic |
ATP1A2-related disorder, ATP1A2-related disorder |
| RS2524888659 |
GJA8
|
Health Risk |
Likely pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524888666 |
GJA8
|
Health Risk |
Pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524888699 |
ATP1A2
|
Health Risk |
Pathogenic |
Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524888761 |
GPSM2
|
Health Risk |
Likely pathogenic |
GPSM2-related disorder, GPSM2-related disorder |
| RS2524888804 |
GJA8
|
Health Risk |
Likely pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524888892 |
GJA8
|
Health Risk |
Likely pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889089 |
GJA8
|
Health Risk |
Conflicting classifications of pathogenicity |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889140 |
GJA8
|
Health Risk |
Conflicting classifications of pathogenicity |
Cataract 1 multiple types, acorea |
| RS2524889317 |
GJA8
|
Health Risk |
Likely pathogenic |
Microphthalmia, Cataract 1 multiple types |
| RS2524889327 |
GJA8
|
Health Risk |
Likely pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889379 |
GJA8
|
Health Risk |
Pathogenic/Likely pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889489 |
GJA8
|
Health Risk |
Likely pathogenic |
— |
| RS2524889508 |
GJA8
|
Health Risk |
Likely pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889513 |
GJA8
|
Health Risk |
Likely pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889961 |
GJA8
|
Health Risk |
Conflicting classifications of pathogenicity |
GJA8-related disorder, Cataract 1 multiple types |
| RS2524889972 |
GJA8
|
Health Risk |
Conflicting classifications of pathogenicity |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524889994 |
ATP1A2
|
Health Risk |
Conflicting classifications of pathogenicity |
See cases, See cases |
| RS2524891019 |
GJA8
|
Health Risk |
Likely pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524891325 |
ATP1A2
|
Health Risk |
Pathogenic |
Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524891845 |
GJA8
|
Health Risk |
Conflicting classifications of pathogenicity |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524891883 |
GJA8
|
Health Risk |
Conflicting classifications of pathogenicity |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524891890 |
GJA8
|
Health Risk |
Likely pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524892983 |
GJA8
|
Health Risk |
Likely pathogenic |
Cataract 1 multiple types, Cataract 1 multiple types |
| RS2524893038 |
GJA8
|
Health Risk |
Pathogenic/Likely pathogenic |
Cataract 1 multiple types, Inborn genetic diseases |
| RS2524899114 |
ATP1A2
|
Health Risk |
Pathogenic |
Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524899135 |
ATP1A2
|
Health Risk |
Pathogenic |
Familial hemiplegic migraine, Familial hemiplegic migraine |
| RS2524902421 |
GPSM2
|
Health Risk |
Likely pathogenic |
— |
| RS2524903070 |
ATP1A2
|
Health Risk |
Likely pathogenic |
— |
| RS2524906308 |
HORMAD1
|
Health Risk |
Pathogenic |
Male infertility, Male infertility |
| RS2524911784 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2524912315 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2524916271 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2524924265 |
GPSM2
|
Health Risk |
Likely pathogenic |
— |
| RS2524924329 |
HAX1
|
Health Risk |
Pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524924407 |
HAX1
|
Health Risk |
Pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524924781 |
HAX1
|
Health Risk |
Pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524927339 |
COL11A1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2524927748 |
COL11A1
|
Health Risk |
Likely pathogenic |
— |
| RS2524930259 |
HAX1
|
Health Risk |
Pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524930480 |
HAX1
|
Health Risk |
Pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524931096 |
HAX1
|
Health Risk |
Pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524932526 |
HAX1
|
Health Risk |
Pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524933144 |
HAX1
|
Health Risk |
Likely pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524933602 |
ADCY10
|
Health Risk |
Likely pathogenic |
— |
| RS2524933917 |
HAX1
|
Health Risk |
Pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524934196 |
HAX1
|
Health Risk |
Pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524937073 |
HAX1
|
Health Risk |
Pathogenic |
Kostmann syndrome, Kostmann syndrome |
| RS2524938045 |
HAX1
|
Health Risk |
Likely pathogenic |
Severe congenital neutropenia, Severe congenital neutropenia |
| RS2524949516 |
DMD
|
Health Risk |
Likely pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2524951543 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2524951964 |
DMD
|
Health Risk |
Pathogenic |
— |
| RS2524952602 |
DMD
|
Health Risk |
Pathogenic |
Duchenne muscular dystrophy, Duchenne muscular dystrophy |
| RS2524952754 |
DMD
|
Health Risk |
Likely pathogenic |
— |
| RS2524953933 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524954033 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524954100 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524960858 |
SELENON
|
Health Risk |
Likely pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524960860 |
SELENON
|
Health Risk |
Likely pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524981730 |
SELENON
|
Health Risk |
Likely pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524982356 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2524982606 |
SLC2A1
|
Health Risk |
Pathogenic |
SLC2A1-related disorder, SLC2A1-related disorder |
| RS2524983904 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524984262 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524984323 |
SLC2A1
|
Health Risk |
Pathogenic |
— |
| RS2524984541 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524984571 |
SLC2A1
|
Health Risk |
Pathogenic |
— |
| RS2524984688 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524984768 |
SLC2A1
|
Health Risk |
Pathogenic |
Dystonia 9, Dystonia 9 |
| RS2524984781 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524984796 |
SLC2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524984900 |
SLC2A1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2524984942 |
SLC2A1
|
Health Risk |
Pathogenic |
— |
| RS2524984967 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524986424 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524986843 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS2524988522 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524988926 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524989875 |
SLC2A1
|
Health Risk |
Likely pathogenic |
Encephalopathy due to GLUT1 deficiency, Encephalopathy due to GLUT1 deficiency |
| RS2524989927 |
SLC2A1
|
Health Risk |
Likely pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524990003 |
SLC2A1
|
Health Risk |
Pathogenic |
Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures |
| RS2524990045 |
SLC2A1
|
Health Risk |
Likely pathogenic |
Childhood onset GLUT1 deficiency syndrome 2, Encephalopathy due to GLUT1 deficiency |
| RS2524990221 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524990249 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |
| RS2524991460 |
SLC2A1
|
Health Risk |
Pathogenic |
GLUT1 deficiency syndrome 1, autosomal recessive |