| | GCNT7, RTF2 (R215G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GCNT7, RTF2 (S325F +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GCNT7, RTF2 (H327Y +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | 20q13.13qter duplication | |
| | GCNT7, RTF2 (A269T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GCNT7, RTF2 (R266S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GCNT7, RTF2 (L272F +3 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GCNT7, RTF2 (T255I +3 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GCNT7, RTF2 (S214R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GCNT7, RTF2 (D212Y +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GCNT7, RTF2 (P202L +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | GCNT7, RTF2 (V211M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GCNT7, RTF2 (N203S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | GCNT7, RTF2 (D168N +1 more) | 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 | |
| | GCNT7, RTF2 (S271G +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | 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 | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130066385, LOC130066386 +553 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130066289, LOC130066290 +491 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121627913, LOC121853014 +175 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |