Table 2.

Pathogenic copy number variants.

PatientID	Sex/Age (Year)	Chromosomal Region	CNV Type	Start (Mb)	End (Mb)	Size (Mb)	Involved OMIM Genes	Renal Phenotype	Extrarenal Phenotype	Renal Function	Reference
34	M/12.7	17q12	Del	34.82	36.38	1.56	ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, TADA2A, DUSP14, SYNRG, DDX52, HNF1B, and TBC1D3	Bilateral RHD with renal cysts	Preterm, imperforate anus, hypospadias, and choledochal cyst	CKD	[12]
50	M/26.1	17q12	Del	34.47	36.24	1.76	TBC1D3B, CCL3L3, CCL4L2, TBC1D3C, CCL3L1, TBC1D3H, TBC1D3G, ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, TADA2A, DUSP14, SYNRG, DDX52, and HNF1B	Left MCDK and right mid-ureteral obstruction	Post-transplant diabetes mellitus	ESRD at 17.6 yr	[12]
58	M/22.8	17q12	Dup	34.82	36.37	1.55	ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, TADA2A, DUSP14, SYNRG, DDX52, HNF1B, and TBC1D3	Bilateral VUR and right MCDK	Parietal lobe epilepsy, multiple neuropathic pain, hypomagnesemia, and hyperuricemia	ESRD at 21.1 yr	[12]
82	M/15.5	17q12	Del	34.82	36.30	1.48	ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, TADA2A, DUSP14, SYNRG, DDX52, and HNF1B	Bilateral RHD with renal cysts	Diabetes mellitus	Normal	[12]
15	F/14.5	8q13.3	Del	71.94	74.15	2.20	EYA1, MSC, TRPA1, KCNB2, and TERF1	Bilateral RHD	Pre-auricular pit and hearing loss	ESRD at 5.4 yr	[30]
41	M/18.1	1q21.1	Dup	146.00	147.99	1.99	NBPF12, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, and NBPF11	Bilateral RHD with renal cysts and renal stone	Patent ductus arteriosus, pancreas hypoplasia, common bile-duct dilatation, and hepatic cyst	CKD	[19]

Yr, years; CNV, copy number variant; OMIM, Online Mendelian Inheritance in Man; Del, deletion; RHD, renal hypodysplasia; CKD, chronic kidney disease; MCDK, multicystic dysplastic kidney; ESRD, end stage renal disease; Dup, duplication; VUR, vesicoureteral reflux; NPHP, nephronophthisis.