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Manual review of variants in known, well-established ASD risk genes or chromosomal region deletion/duplication.
| Gene | Chromosomal Regions | |
|---|---|---|
| AHI1 | NLGN4X | 15q11-13 maternal deletion |
| CACNA1C | PTEN | 15q11-13 duplication |
| CHD8 | SHANK3 | 15q11-13 paternal deletion |
| CNTNAP2 | TSC1 | 15q11-13 duplication |
| EIF4E | TSC2 | 1q21.1 |
| FMR1 | UBE3A | 7q11.23 |
| FMR1-AS1 | GABAr | 16p11.2 |
| GBX2 | PCKB1 | 18q12.1 |
| KIF1A | DCHR7 | 22q11.2 |
| MECP2 | OXTR | 22q13 |
| NF1 | SLC6A4 | 17p11.2 |
| NLGN3 | FOLR1 | |
| KIZ | XRN2 | |
