| | LOC132088675, LOC132088682 +1585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CREG1, LOC129931856 (A86V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | CREG1-related condition | |
| | CREG1, LOC129931856 (R81S) | Single nucleotide variant (missense variant) | not specified | |
| | CREG1, LOC129931856 (P47L) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | CREG1-related condition | |
| | CREG1, LOC129931856 (S44F) | Single nucleotide variant (missense variant) | not specified | |
| | CREG1, LOC129931856 (H37Q) | Single nucleotide variant (missense variant) | not specified | |
| | CREG1, LOC129931856 (R30Q) | Single nucleotide variant (missense variant) | not specified | |
| | CREG1, LOC129931856 (V26A) | Single nucleotide variant (missense variant) | not specified | |
| | CREG1, LOC129931856 (A15T) | Single nucleotide variant (missense variant) | not specified | |
| | CREG1, LOC129931856 (A11V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Duplication | Immunodeficiency 25 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | Paragangliomas 3 +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |