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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
  1. *Here partial exon means that CNV breakpoint is inside exon