| | MIR138-2, MIR140 +1738 more | Copy number gain | See cases | |
| | LOC130059829, LOC130059830 +1429 more | Copy number gain | See cases | |
| | LOC108281164, LOC109029536 +1426 more | Copy number gain | See cases | |
| | LOC130059834, LOC130059835 +1424 more | Copy number gain | See cases | |
| | LOC130059850, LOC130059851 +1041 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059772, LOC130059773 +832 more | Copy number gain | See cases | |
| | LOC132090418, LOC132090419 +788 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059746, LOC130059747 +719 more | Copy number gain | See cases | |
| | LOC130059500, LOC130059501 +691 more | Copy number gain | See cases | |
| | LOC132090448, LOC132090449 +677 more | Copy number gain | See cases | |
| | LOC130059591, LOC130059592 +670 more | Copy number gain | See cases | |
| | LOC130059691, LOC130059692 +566 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | CHMP1A-related disorder | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pontocerebellar hypoplasia type 8 | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +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 (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 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 +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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 (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Pontocerebellar hypoplasia type 1A +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |