| | | Duplication (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | GABBR2-related disorder | |
| | | Single nucleotide variant (missense variant) | GABBR2-related disorder | |
| | | Single nucleotide variant (missense variant) | GABBR2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | GABBR2, LOC126860700 (D223Y) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Duplication (inframe_insertion) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Deletion (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Duplication (inframe_insertion) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (nonsense) | Epileptic encephalopathy | |
| | | Microsatellite (inframe_insertion) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Indel (intron variant) | Epileptic encephalopathy | |
| | GABBR2, LOC126860700 (T229N) | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Deletion (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |