| | MIR138-2, MIR140 +1738 more | Copy number gain | See cases | |
| | LOC130059330, LOC130059331 +599 more | Copy number gain | See cases | |
| | LOC130059197, LOC130059198 +575 more | Copy number gain | See cases | |
| | | 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 | |
| | LOC130059420, LOC130059421 +869 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Insertion (non-coding transcript variant) | EEM syndrome | |
| | | Duplication (non-coding transcript variant) | EEM syndrome | |
| | | Insertion (non-coding transcript variant) | EEM syndrome | |
| | | Insertion (non-coding transcript variant) | EEM syndrome +1 more | |
| | | Microsatellite (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant) | EEM syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | EEM syndrome | |
| | | Microsatellite (5 prime UTR variant +1 more) | CDH3-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | EEM syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | EEM syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | EEM syndrome +1 more | |
| | | 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 (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 (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | EEM syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | 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) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | EEM syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Duplication (frameshift 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 (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | EEM syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (splice donor variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | EEM syndrome +2 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 (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | EEM syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |