In AD, well-known (but rare) autosomal dominant mutations are known to cause familial disease.
The BRCA1 and BRCA2 mutations are known to predispose women to breast cancer.
However, not all mutations are known, and it is impractical to perform a complete analysis of an individual's mtDNA.
Nearly 2000 CFTR gene mutations are known, of which ~130 are pathogenic, impairing its translation, cellular processing, and/or chloride channel gating.
In particular, mutations are known to be random (or less confusingly, "undirected") with respect to any effects that they may have.
In CF, nonsense, splicing and frameshift mutations are known to occur in all CFTR exons [50] and currently have no effective CFTR function-correcting treatment.
ABCA12 mutations are known to underlie the three major types of autosomal recessive congenital ichthyoses: harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma.
Over 1000 different mutations are known.
The disease is caused by genetic mutations only, and the genetic mutations are known in the vast majority of patients that have been diagnosed to date.
To date, 33 mutations are known to affect human bone development to different extents.
Mutations are known in the putative Drosophila UBIAD1 ortholog heixuedian (heix)[32].
