| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with poor language and loss of hand skills | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with poor language and loss of hand skills | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with poor language and loss of hand skills | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with poor language and loss of hand skills | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with poor language and loss of hand skills +1 more | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder with poor language and loss of hand skills +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Neurodevelopmental disorder with poor language and loss of hand skills +1 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with poor language and loss of hand skills +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (splice donor variant) | Neurodevelopmental disorder with poor language and loss of hand skills +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | GABBR2, LOC126860700 (R212Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 59 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 59 | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |