| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | 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 (synonymous variant) | CCNP-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 | |
| | CCNP, LOC126862910 (V168A) | Single nucleotide variant (missense variant) | not specified | |
| | CCNP, LOC126862910 (R144H) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | CCNP-related disorder | |
| | CCNP, LOC126862910 (L135M) | Single nucleotide variant (missense variant) | not specified | |
| | CCNP, LOC126862910 (V133I) | 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 | |
| | CCNP, LOC126862910 (R101P) | 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) | CCNP-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | not provided | |
| | | Duplication | TWIST1-related craniosynostosis +3 more | |
| | | Copy number gain | Specific learning disability | |
| | | Copy number gain | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |