Table 2.

Examples of copy number variations (CNVs) and conveyed genomic disorders^a

Phenotype	OMIM	Locus	CNV	References^a
Mendelian (autosomal dominant) ^b
Williams-Beuren syndrome	194050	7q11.23	del	S4
7q11.23 duplication syndrome	609757	7q11.23	dup	S62
Spinocerebellar ataxia type 20	608687	11q12	dup	S30
Smith-Magenis syndrome	182290	17p11.2/RAI1	del	S13
Potocki-Lupski syndrome	610883	17p11.2	dup	S49
HNPP	162500	17p12/PMP22	del	S11
CMT1A	118220	17p12/PMP22	dup	S41
Miller-Dieker lissencephaly syndrome	247200	17p13.3/LIS1	del	S10, S50
Mental retardation	601545	17p13.3/LIS1	dup	S6
DGS/VCFS	188400/192430	22q11.2/TBX1	del	S16, S55
Microduplication 22q11.2	608363	22q11.2	dup	S17, S47, S75
Adult-onset leukodystrophy	169500	LMNB1	dup	S48
Mendelian (autosomal recessive)
Familial juvenile nephronophthisis	256100	2q13/NPHP1	del	S31, S53
Gaucher disease	230800	1q21/GBA	del	S5
Pituitary dwarfism	262400	17q24/GH1	del	S9, S24
Spinal muscular atrophy	253300	5q13/SMN1	del	S43, S51
beta-thalassemia	141900	11p15/beta-globin	del	S29
alpha-thalassemia	141750	16p13.3/HBA	del	S25
Mendelian (X-linked)
Hemophilia A	306700	F8	inv/del	S2
Hunter syndrome	309900	IDS	del/inv	S8, S70, S72
Ichthyosis	308100	STS	del	S56
Mental retardation	300706	HUWE1	dup	S21
Pelizaeus-Merzbacher disease	312080	PLP1	del/dup/tri	S14, S28, S37, S38, S71
Progressive neurological symptoms (MR+SZ)	300260	MECP2	dup	S3, S15, S65
Red-green color blindness	303800	opsin genes	del	S46
Complex traits
Alzheimer disease	104300	APP	dup	S52
Autism	612200	3q24	inherited homozygous del	S45
	611913	16p11.2	del/dup	S34, S42, S54, S68
Crohn disease	266600	HBD-2	copy number loss	S20
	612278	IRGM	del	S44
HIV susceptibility	609423	CCL3L1	copy number loss	S23, S33
Mental retardation	612001	15q13.3	del	S58
	610443	17q21.31	del	S32, S57, S59
	300534	Xp11.22	dup	S21
Pancreatitis	167800	PRSS1	tri	S36
Parkinson disease	168600	SNCA	dup/tri	S12, S19, S22, S27, S61
Psoriasis	177900	DEFB	copy number gain	S26
Schizophrenia	612474	1q21.1	del	S63, S64, S67
	181500	15q11.2	del	S63
	612001	15q13.3	del	S63, S64
Systemic lupus erythematosus	152700	FCGR3B	copy number loss	S1, S18, S69
	120810	C4	copy number loss	S74

For the supplemental references, follow the Supplemental Material link from the Annual Reviews home page at http://www.annualreviews.org.

Also de novo sporadic.