| | LOC125048431, LOC125048432 +3280 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130056672, LOC130056673 +1071 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | IGHD3-22, IGHD3-3 +670 more | Copy number gain | See cases | |
| | LINC00677, LINC01550 +666 more | Copy number loss | See cases | |
| | LOC130056627, LOC130056628 +653 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130056617, LOC130056618 +571 more | Copy number loss | See cases | |
| | LOC130056492, LOC130056485 +561 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC00605, LINC00677 +416 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | LOC130056509, WDR20 (N41S) | Single nucleotide variant (missense variant +3 more) | not specified | |
| | LOC130056509, WDR20 (V69M +1 more) | Single nucleotide variant (missense variant +4 more) | not specified | |
| | | Single nucleotide variant (missense variant +4 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Duplication (frameshift variant +2 more) | Delayed speech and language development +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +4 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +4 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +4 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | LOC105378183, LOC112163684 +164 more | Copy number loss | See cases | |
| | | Duplication | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Charcot-Marie-Tooth disease axonal type 2O +1 more | |
| | | Deletion | Charcot-Marie-Tooth disease axonal type 2O | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |