| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC123620117, LOC123620118 +324 more | Copy number loss | See cases | |
| | LOC132089385, LOC132089386 +221 more | Copy number loss | See cases | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC129996470, TBCC (P160L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129996470, TBCC (P160S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129996470, TBCC (T150A) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129996470, TBCC (R136G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129996470, TBCC (P133L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC129996470, TBCC (D109Y) | 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 | |
| | | 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 | |
| | | Deletion | not provided | |
| | | Duplication | PRPH2-related disorder | |
| | | Deletion | Peroxisome biogenesis disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |