The article discusses the role of pre-mRNA splicing in human disease, highlighting the precision and complexity of intron removal. It emphasizes that most human genes express multiple mRNAs through alternative splicing, which can lead to diverse protein isoforms. Disruptions in normal splicing patterns can cause or modify human diseases. The review categorizes splicing mutations into four types: those affecting constitutive splice sites, alternative splice sites, the basal splicing machinery, and splicing regulation. It details several diseases caused by these mutations, including familial isolated growth hormone deficiency type II, Frasier syndrome, frontotemporal dementia and Parkinsonism linked to Chromosome 17, atypical cystic fibrosis, retinitis pigmentosa, and spinal muscular atrophy. The article also explores the cell-specific effects of splicing mutations and the potential mechanisms behind them.The article discusses the role of pre-mRNA splicing in human disease, highlighting the precision and complexity of intron removal. It emphasizes that most human genes express multiple mRNAs through alternative splicing, which can lead to diverse protein isoforms. Disruptions in normal splicing patterns can cause or modify human diseases. The review categorizes splicing mutations into four types: those affecting constitutive splice sites, alternative splice sites, the basal splicing machinery, and splicing regulation. It details several diseases caused by these mutations, including familial isolated growth hormone deficiency type II, Frasier syndrome, frontotemporal dementia and Parkinsonism linked to Chromosome 17, atypical cystic fibrosis, retinitis pigmentosa, and spinal muscular atrophy. The article also explores the cell-specific effects of splicing mutations and the potential mechanisms behind them.