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Clinically relevant ASD-associated CNVs.
| Locus | Candidate Gene | Other associated disorders |
|---|---|---|
| 1q21.1 | ? | ID/SCZ/BD |
| 2p16.3 | NRXN1 | ID/SCZ |
| 2q23.1 | MBD5 | ID/SE |
| 3q29 | DLG1/PAK2? | ID/SCZ |
| 7q11.23 | LIMK | ID |
| 11q13.3 | SHNAK2 | ID/SE |
| 15q11.2 | UBE3A | ID/SE |
| 15q13.3 | CHRNA7 | ID/SCZ |
| 16p11.2 | KCD13? | ID/BD/SCZ |
| 22q11.2 | ? | ID/SCZ |
| 22q13.3 | SHANK3 | ID/SE/BD |
| Xp22.1 | PTCHD1 | ID/SE |
| Xp22.3 | NLGN3 | ID |
| Xq13.1 | NLGN4X | ID |
ID: intellectual disability; SCZ: Schizophrenia; BD: bipolar disorder; SE: seizure disorder.
