| | | 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 | |
| | GTPBP2, LOC121132685 +27 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MRPS18A, POLR1C +1 more (S188P) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | MRPS18A, POLR1C +1 more (L181P) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | MRPS18A, POLR1C +1 more (V176M) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | MRPS18A, POLR1C +1 more (M174V) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | MRPS18A, POLR1C +1 more (R173G) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | MRPS18A, POLR1C +1 more (W169R) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | MRPS18A, POLR1C +1 more (R168G) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | MRPS18A, POLR1C +1 more (P161L) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | MRPS18A, POLR1C +1 more (V159I) | Single nucleotide variant (3 prime UTR variant +3 more) | not specified | |
| | MRPS18A, POLR1C +1 more (P156S) | Single nucleotide variant (3 prime UTR variant +3 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 +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 | |
| | | Deletion | not provided | |
| | | Duplication | PRPH2-related disorder | |
| | | Deletion | Peroxisome biogenesis disorder | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |