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