| | LOC130001537, LOC130001538 +3785 more | Copy number gain | See cases | |
| | LOC130002976, LOC130002977 +3784 more | Copy number gain | See cases | |
| | LOC130001468, LOC130001469 +3785 more | Copy number gain | See cases | |
| | DNAJB5, DNAJB5-DT +3785 more | Copy number gain | See cases | |
| | LOC114827838, LOC116186936 +3785 more | Copy number gain | See cases | |
| | LOC124252641, LOC124252642 +3785 more | Copy number gain | See cases | |
| | LOC114022701, LOC114022702 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120726, LOC110120727 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | LOC130002205, LOC130002206 +417 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Neurodevelopmental disorder with poor language and loss of hand skills +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | GABBR2-related disorder +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (inframe_insertion) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 59 +2 more | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Duplication (inframe_insertion) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Deletion (inframe_deletion) | 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 | |
| | | Deletion (inframe_deletion) | Developmental and epileptic encephalopathy, 59 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 59 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (synonymous 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 (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 (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (intron variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (splice donor variant) | Autism spectrum disorder | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy +1 more | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | 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 (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy | |
| | | Single nucleotide variant (synonymous variant) | Epileptic encephalopathy | |