| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129936198, LOC129936199 +647 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129936421, LOC129936422 +962 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120630, LOC111429626 +608 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARPC4, ARPC4-TTLL3 +307 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +190 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +146 more | Copy number gain | See cases | |
| | ARPC4, ARPC4-TTLL3 +118 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ATP2B2, ATP2B2-IT1 +36 more | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR 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 (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-astatic epilepsy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | SLC6A1-related disorder | |
| | | Single nucleotide variant (nonsense +1 more) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | SLC6A1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | SLC6A1, SLC6A1-AS1 (K36fs) | Duplication (frameshift variant +1 more) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Indel (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | SLC6A1, SLC6A1-AS1 (R50fs) | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-astatic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Myoclonic-atonic epilepsy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Myoclonic-atonic epilepsy | |