Skip to main content
. Author manuscript; available in PMC: 2024 Mar 29.
Published in final edited form as: Pediatr Nephrol. 2023 Sep 5;39(2):455–461. doi: 10.1007/s00467-023-06134-2

Table 2.

Details of the two CNVs in PLCE1 and NPHS2 identified in our cohort

Individual ID Exact SRNS phenotype Extrarenal phenotype CNV position (hg19) CNV length (bp) Copy number Genes involved ACMG
A4314_21 INS NR chr10:96,020,850-chr10:96,030,524
or
chr10:96,020,853- chr10:96,030,527
9,673 1 PLCE1 P
B1391_21 SRNS NR chr1:179,519,242- chr1:179,526,033 6,790 1 NPHS2 P

ACMG, American College of Medical Genetics; CNV, copy number variation; hg19, human genome assembly 19; INS, infantile nephrotic syndrome; NR, none reported; P, pathogenic; SRNS, steroid-resistant nephrotic syndrome