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Case Report
Copyright ©The Author(s) 2025.
World J Clin Pediatr. Dec 9, 2025; 14(4): 108329
Published online Dec 9, 2025. doi: 10.5409/wjcp.v14.i4.108329
Table 1 Genetic variants identified in patients with arrhythmogenic cardiomyopathy
Patients
Gene
Variants
ACMG classification
CADD
Patient 1DSG2Сhr18:31519867, rs121913006, NM_001943.5: C.146G>A: p.R49HP (PP5, PP3, PM1, PM5, PM2)26
Patient 2DSPChr6:7559251, NM_004415.4: C.448C>T: p.R150*P (PVS1, PP5, PM2)37
DSPChr6:7580877-7580878, NM_004415.4: C.4687_4688del: p.L1563Efs*63P (PVS1, PP5, PM2)No data