| | | Copy number gain | See cases | |
| | CCDC51, LOC126806676 (A235G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (G336E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (Q214R +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CCDC51, LOC126806676 (R311S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (L299F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (R183G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (P290L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (N155S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (R148C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (R224H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (Y221S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (R194C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (R187W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | CCDC51, LOC126806676 (R56C +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CCDC51, LOC126806676 (E51G +1 more) | 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 +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 (synonymous variant +1 more) | not provided | |
| | | 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 (missense variant +1 more) | not specified | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |