| | LOC130065344, LOC130065345 +455 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Renal agenesis | |
| | LOC105372493, LOC105372524 +579 more | Copy number gain | See cases | |
| | LOC126863004, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | LOC130065322, LOC130065323 +300 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (5 prime UTR variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (5 prime UTR variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (5 prime UTR variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | PLCB1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Early Infantile Epileptic Encephalopathy, Autosomal Recessive +3 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 +2 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 12 | |
| | | Single nucleotide variant (intron variant) | not provided | |