| | | 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) | Cystic disease of lung | |
| | | Insertion (frameshift variant) | Cystic disease of lung | |
| | | Single nucleotide variant (missense variant) | Cystic disease of lung | |
| | | Single nucleotide variant (missense variant) | Cystic disease of lung | |
| | | Deletion (inframe_deletion) | Cystic disease of lung | |
| | | Single nucleotide variant (synonymous variant +1 more) | CCR2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CCR2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CCR2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CCR2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | CCR2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Susceptibility to HIV infection | |
| | | Single nucleotide variant (missense variant +1 more) | Susceptibility to HIV infection | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | CCR2-related disorder +1 more | |