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. Author manuscript; available in PMC: 2018 May 7.
Published in final edited form as: Crit Rev Clin Lab Sci. 2014 May 30;51(5):249–262. doi: 10.3109/10408363.2014.910747

Table 2.

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.