| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | LOC116268473, LOC116268474 +1244 more | Copy number gain | See cases | |
| | LOC130057943, LOC130057944 +664 more | Copy number gain | See cases | |
| | LOC130057907, LOC130057908 +630 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MIR11181, MIR1179 +517 more | Copy number gain | See cases | |
| | LOC130057997, LOC130057998 +500 more | Copy number gain | See cases | |
| | LOC130057929, LOC130057930 +311 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +422 more | Copy number gain | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | 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 provided | |
| | | 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 (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +2 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 | |
| | LOC130057887, PEX11A +1 more (N9H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130057887, PEX11A +1 more (R6H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130057887, PEX11A +1 more (A3S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion | Bloom syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | D-2-hydroxyglutaric aciduria 2 | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | Bloom syndrome +1 more | |
| | | Copy number loss | See cases | |
| | ARPIN-AP3S2, ZNF710 +11 more | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1A2, ALDH1A3 +444 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |