| | LOC129929733, LOC129929734 +1145 more | Copy number gain | See cases | |
| | | Inversion | Bilateral polymicrogyria | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | SLFNL1, SLFNL1-AS1 (V341M +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (A334V +2 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (D290E +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (D290N +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (R348H +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (R288Q +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (Y337H +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (R263H +1 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (S256R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (D227Y +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (R221C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (G211S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (D264N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (V201M +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (G196S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (A249V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (V247M +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (R186C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (E174K +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (G232S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (R170Q +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (D151E +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (G194S) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (R191Q) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (G190D) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (P167A) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (S154T) | Single nucleotide variant (non-coding transcript variant +2 more) | not specified | |
| | SLFNL1, SLFNL1-AS1 (S142N) | Single nucleotide variant (missense variant) | not specified | |
| | SLFNL1, SLFNL1-AS1 (S135N) | Single nucleotide variant (missense variant) | not specified | |
| | SLFNL1, SLFNL1-AS1 (T114M) | Single nucleotide variant (missense variant) | not specified | |
| | SLFNL1, SLFNL1-AS1 (L105P) | 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 | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Deletion | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Duplication | Charcot-Marie-Tooth disease dominant intermediate C | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |