| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Early-onset Parkinson disease 20 | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Duplication (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Microsatellite (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Deletion (frameshift variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Early-onset Parkinson disease 20 +1 more | |
| | | Deletion (intron variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (nonsense) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Early-onset Parkinson disease 20 +1 more | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Deletion (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 53 +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 53 +1 more | |