| | LOC126862863, LOC126862864 +536 more | Copy number gain | See cases | |
| | LOC130063608, LOC130063609 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC112543445, LOC112543446 +355 more | Copy number loss | See cases | |
| | LOC129391074, LOC130063625 +351 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126862857, ZNF490 (V519L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862857, ZNF490 (V519M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862857, ZNF490 (V454I) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862857, ZNF490 (T357S) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862857, ZNF490 (V353M) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862857, ZNF490 (R350G) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862857, ZNF490 (P333L) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862857, ZNF490 (S323N) | Single nucleotide variant (missense variant) | not specified | |
| | LOC126862857, ZNF490 (R322W) | 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) | 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 | |
| | LOC130063643, ZNF490 (S6G) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Deficiency of alpha-mannosidase +4 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |