Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
: The gender of the reported individual.
- ? = Unknown
- F = Female
- M = Male
- rF = Raised as female
- rM = Raised as male
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.