| | | Copy number loss | See cases | |
| | LOC129998788, LOC129998789 +227 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CFAP69, LOC105375387 +13 more | Copy number gain | See cases | Gconflicting data from submitters |
| | CFAP69, LOC105375387 +13 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +13 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +13 more | Copy number gain | See cases | Gconflicting data from submitters |
| | LOC105375387, LOC113748415 +12 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +13 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +11 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +11 more | Copy number gain | See cases | |
| | CFAP69, LOC105375387 +9 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GTPBP10, LOC101927446 +11 more | Copy number gain | Diaphragmatic hernia | |
| | | 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) | STEAP2-related disorder | |
| | | 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) | STEAP2-related disorder | |
| | | 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) | STEAP2-related disorder | |
| | | 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 +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 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | STEAP2-related disorder | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | | Copy number gain | not specified | |
| | ATP5MF-PTCD1, AZGP1 +127 more | Copy number gain | Isolated Pierre-Robin syndrome +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | 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 | |
| | | Deletion | Pleomorphic xanthoastrocytoma | |
| | | Copy number gain | See cases | |
| | | Inversion | Childhood apraxia of speech | |
| | | Copy number gain | Breast ductal adenocarcinoma | |