| | | Copy number gain | See cases | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112695092, LOC112695093 +1004 more | Copy number gain | See cases | |
| | ANKRD54, APOBEC3A +177 more | Copy number loss | See cases | |
| | | 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 | |
| | ANKRD54, BAIAP2L2 +50 more | Deletion | Infantile neuroaxonal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Duplication | Adenylosuccinate lyase deficiency | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ANKRD54, APOBEC3A +76 more | Copy number gain | See cases | |
| | ANKRD54, BAIAP2L2 +31 more | Copy number loss | See cases | |
| | ANKRD54, BAIAP2L2 +41 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | C22orf15, C22orf23 +435 more | 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 loss | See cases | |