| | | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CCNP, LOC126862910 (V168A) | Single nucleotide variant (missense variant) | not specified | |
| | CCNP, LOC126862910 (R144H) | Single nucleotide variant (missense variant) | not specified | |
| | CCNP, LOC126862910 (Y130C) | Single nucleotide variant (missense variant) | not specified | |
| | CCNP, LOC126862910 (P105L) | Single nucleotide variant (missense variant) | not specified | |
| | CCNP, LOC126862910 (P105R) | 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 | |
| | | Single nucleotide variant (missense variant) | CCNP-related disorder | |
| | | Single nucleotide variant (synonymous variant) | CCNP-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CCNP, LOC126862910 (L135M) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | not provided | |
| | | Duplication | Diamond-Blackfan anemia +3 more | |
| | | Copy number gain | Specific learning disability | |
| | | 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 | |
| | | Copy number gain | See cases | |