| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +953 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +952 more | Copy number gain | See cases | |
| | AGXT2, LOC121725200 +385 more | Copy number gain | See cases | |
| | LINC02057, LINC02101 +518 more | Copy number gain | See cases | |
| | LOC126807367, LOC126807368 +254 more | Copy number gain | See cases | |
| | ANXA2R, ANXA2R-AS1 +245 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ANXA2R, ANXA2R-AS1 +32 more | Copy number gain | See cases | |
| | | 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) | 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 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | CCDC152, SELENOP (R368P +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CCDC152, SELENOP (R398H +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CCDC152, SELENOP (T361A +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CCDC152, SELENOP (I354L +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CCDC152, SELENOP (P327R +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CCDC152, SELENOP (L325S +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | CCDC152, SELENOP (P203S +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CCDC152, SELENOP (S202L +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CCDC152, SELENOP (R218C +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | musculoskeletal system issues | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |