| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | GABBR2, LOC126860700 (T229N) | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | GABBR2, LOC126860700 (K244R) | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | GABBR2, LOC126860700 (L215M) | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 59 | |
| | | Single nucleotide variant (splice donor variant) | Autism spectrum disorder | |
| | GABBR2, LOC126860700 (D223N) | Single nucleotide variant (missense 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 (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | GABBR2, LOC126860700 (D228G) | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | GABBR2, LOC126860700 (S231N) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Neurodevelopmental disorder with poor language and loss of hand skills +1 more | |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (no sequence alteration) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (synonymous 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 (missense variant) | Developmental and epileptic encephalopathy, 59 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | GABBR2, LOC126860700 (S239N) | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | GABBR2, LOC126860700 (P236L) | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Intellectual disability | |
| | GABBR2, LOC126860700 (E222K) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | GABBR2, LOC126860700 (R212Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | GABBR2, LOC126860700 (E230K) | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | GABBR2, LOC126860700 (C237G) | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | LOC126860700, GABBR2 (D235N) | Single nucleotide variant (missense variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy +1 more | |
| | GABBR2, LOC126860700 (I224V) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |