Table 2 Genes with CNVs identified in routine diagnostic samples
From: Detecting copy number variation in next generation sequencing data from diagnostic gene panels
Gene name | Type of CNV: number of findings |
|---|---|
ATM | Multi exon duplication: 7 |
BRCA1 | Single exon deletion: 3; Multi exon deletion: 1; Multi + partial* exon deletion: 1; Multi exon duplication: 1 |
BRCA2 | Single exon deletion: 1; Multi exon deletion: 1 |
CDC73 | Multi exon deletion: 1 |
CDKN2A | Whole gene deletion (homozygote): 1 |
DICER1 | Single exon deletion: 2 |
MLH1 | Multi exon deletion: 1 |
MSH2 | Multi exon deletion: 5; Whole gene deletion: 1 |
MSH6 | Whole gene duplication: 1 |
NF1 | Multi exon mosaic deletion: 1 (30% mosaicism) |
NF2 | Multi exon deletion: 1 |
PMS2 | Multi exon duplication: 5 |
PTCH1 | Whole gene deletion: 1 |
RAD51C | Multi exon deletion: 8 |
RB1 | Whole gene deletion: 1 |
PTKAR1A | Whole gene deletion: 1 |