| | LOC126862722, LOC126862723 +1646 more | Copy number gain | See cases | |
| | LINC00683, LINC00907 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01478, LINC01538 +1643 more | Copy number gain | See cases | |
| | LOC130062393, LOC130062394 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062575, LOC130062576 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062446, LOC130062447 +1266 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125371434, LOC125371435 +879 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129390995, LOC130062498 +4 more | Copy number gain | See cases | |
| | | Single nucleotide variant | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (intron variant +1 more) | Epilepsy, idiopathic generalized, susceptibility to | |
| | | Single nucleotide variant | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | ME2-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | ME2-related disorder | |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | ME2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant +1 more) | ME2-related disorder | |
| | | Single nucleotide variant (no sequence alteration) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Trisomy 18 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01879, LMAN1 +101 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TNFRSF11A, TXNL1 +267 more | Copy number gain | See cases | |