The document lists potential pathogenic genetic mutations and their associated risks for various diseases. It includes specific gene mutations such as BRCA2, TTN, ATM, MRE11A, CFTR, SMPD1, RAG2, GFPT1, HESX1, CEP290, DMD, ABCC9, DSG4, GARS, ANK2, CNGB3, ATR, and GABRG2. Each entry provides details on the potential health implications, evidence of pathogenicity, and considerations for further testing or monitoring. The document emphasizes the importance of genetic testing for family members in certain cases and notes the reproductive significance of some mutations.
documents/EFTA01135800.pdf
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