| RS796053060 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053062 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053064 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS796053065 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS796053066 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053067 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS796053068 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053070 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053071 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053072 |
SCN1A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 6B, Early-infantile DEE |
| RS796053073 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053074 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053075 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053076 |
SCN1A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 6B, Migraine |
| RS796053077 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053078 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053079 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053080 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053081 |
SCN1A
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS796053083 |
SCN1A
|
Health Risk |
Pathogenic |
Epileptic encephalopathy, Epileptic encephalopathy |
| RS796053084 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053085 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS796053086 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS796053087 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053089 |
SCN1A
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS796053090 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS796053091 |
SCN1A
|
Health Risk |
Pathogenic |
Generalized epilepsy with febrile seizures plus, type 2 |
| RS796053092 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053093 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-infantile DEE, Early-infantile DEE |
| RS796053094 |
SCN1A
|
Health Risk |
Likely pathogenic |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS796053095 |
SCN1A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 6B, Early-infantile DEE |
| RS796053098 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Early-infantile DEE |
| RS796053099 |
SCN1A
|
Health Risk |
Pathogenic/Likely pathogenic |
SCN1A Seizure Disorders, SCN1A Seizure Disorders |
| RS796053100 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Early-infantile DEE, Early-infantile DEE |
| RS796053103 |
SCN1A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS796053105 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053106 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053107 |
SCN1A
|
Health Risk |
Pathogenic |
— |
| RS796053111 |
SCN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Seizures, benign familial infantile |
| RS796053112 |
SCN2A
|
Health Risk |
Pathogenic |
Seizures, benign familial infantile |
| RS796053113 |
SCN2A
|
Health Risk |
Pathogenic |
— |
| RS796053114 |
SCN2A
|
Health Risk |
Likely pathogenic |
— |
| RS796053115 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053116 |
SCN2A
|
Health Risk |
Likely pathogenic |
— |
| RS796053118 |
SCN2A
|
Health Risk |
Likely pathogenic |
Seizures, benign familial infantile |
| RS796053119 |
SCN2A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053120 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Complex neurodevelopmental disorder |
| RS796053121 |
SCN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 11 |
| RS796053122 |
SCN2A
|
Health Risk |
Likely pathogenic |
Complex neurodevelopmental disorder, Complex neurodevelopmental disorder |
| RS796053124 |
SCN2A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053126 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053129 |
SCN2A
|
Health Risk |
Pathogenic |
— |
| RS796053130 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Epileptic encephalopathy, Epileptic encephalopathy |
| RS796053131 |
SCN2A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Seizures |
| RS796053132 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053133 |
SCN2A
|
Health Risk |
Likely pathogenic |
— |
| RS796053134 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053135 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053136 |
SCN2A
|
Health Risk |
Likely pathogenic |
— |
| RS796053137 |
SCN2A
|
Health Risk |
Pathogenic |
Complex neurodevelopmental disorder, Benign familial neonatal-infantile seizures 1 |
| RS796053138 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053140 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053143 |
SCN2A
|
Health Risk |
Likely pathogenic |
— |
| RS796053144 |
SCN2A
|
Health Risk |
Likely pathogenic |
— |
| RS796053149 |
SCN2A
|
Health Risk |
Likely pathogenic |
— |
| RS796053150 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053151 |
SCN2A
|
Health Risk |
Likely pathogenic |
— |
| RS796053152 |
SCN2A
|
Health Risk |
Pathogenic |
— |
| RS796053154 |
SCN2A
|
Health Risk |
Likely pathogenic |
— |
| RS796053155 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053156 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053157 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053158 |
SCN2A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053160 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053162 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053163 |
SCN2A
|
Health Risk |
Likely pathogenic |
Complex neurodevelopmental disorder, Complex neurodevelopmental disorder |
| RS796053166 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Seizures, benign familial infantile |
| RS796053169 |
SCN2A
|
Health Risk |
Pathogenic |
— |
| RS796053171 |
SCN2A
|
Health Risk |
Pathogenic |
Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy |
| RS796053175 |
SCN2A
|
Health Risk |
Likely pathogenic |
Complex neurodevelopmental disorder, Complex neurodevelopmental disorder |
| RS796053178 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053180 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053181 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053182 |
SCN2A
|
Health Risk |
Likely pathogenic |
Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy |
| RS796053183 |
SCN2A
|
Health Risk |
Pathogenic/Likely pathogenic |
Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy |
| RS796053184 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053192 |
SCN2A
|
Health Risk |
Pathogenic |
— |
| RS796053193 |
SCN2A
|
Health Risk |
Likely pathogenic |
Complex neurodevelopmental disorder, Complex neurodevelopmental disorder |
| RS796053194 |
SCN2A
|
Health Risk |
Pathogenic |
— |
| RS796053196 |
SCN2A
|
Health Risk |
Pathogenic |
— |
| RS796053197 |
SCN2A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053198 |
SCN2A
|
Health Risk |
Pathogenic |
— |
| RS796053203 |
SCN2A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 11 |
| RS796053206 |
SCN2A
|
Health Risk |
Likely pathogenic |
— |
| RS796053209 |
SCN8A
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS796053210 |
SCN8A
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS796053214 |
SCN8A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |
| RS796053216 |
SCN8A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS796053217 |
SCN8A
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 13 |
| RS796053218 |
SCN8A
|
Health Risk |
Pathogenic |
Early-infantile DEE, Early-infantile DEE |