Our other findings considered to be a variant of unknown significance (VOUS) are OPTN, MCM10 and CCDC3 genes CNV duplication at 10p13, GRIP1 gene partial deletion at 12q14.3, CHRNA7 gene partial duplication at 15q13.3, miR128-1, ZRANB3, RHDM3 CNV deletions at 2q21.3 and MACROD2 gene partial deletion at 20p12.1.
Moreover, we identified a 230 kb duplication of 10p13 including OPTN, MCM10, CCDC3 genes in one patient.
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