| | LOC129389216, LOC129389217 +757 more | Copy number gain | See cases | |
| | CDKL2, LOC110120745 +360 more | Copy number loss | Piebaldism | |
| | LOC129389215, LOC129389216 +330 more | Deletion | See cases | |
| | LOC129992695, LOC129992696 +533 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABRAXAS1, ADAMTS3 +331 more | Copy number gain | See cases | |
| | LINC02483, LOC123477765 +4 more | Copy number loss | See cases | |
| | LOC129992714, LOC129992715 +236 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (missense variant +4 more) | not specified | |
| | RCHY1, THAP6 (A4G +1 more) | Single nucleotide variant (missense variant +3 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +3 more) | not provided | |
| | | 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 (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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ABRAXAS1, ADAMTS3 +97 more | Copy number loss | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |