| | SLC30A4, SLC30A4-AS1 (Y404F) | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (I207T) | 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 | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (V203A) | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (R242C) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (G259R) | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (N252H) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Arginine:glycine amidinotransferase deficiency | |
| | SLC30A4, SLC30A4-AS1 (V329I) | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (F401Y) | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (N394K) | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (G257V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (Y200N) | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (T407S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | SLC30A4, SLC30A4-AS1 (G240V) | Single nucleotide variant (missense variant) | not specified | |
| | BLOC1S6, C15orf48 +61 more | Copy number loss | not specified | |
| | | Duplication | Familial colorectal cancer +1 more | |
| | | Duplication | Arginine:glycine amidinotransferase deficiency | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ALDH1A2, ALDH1A3 +444 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057000, LOC130057001 +40 more | Copy number gain | See cases | |