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
: The geographic origin of the individual (country and/or region); Belgium = individual's origin is Belgium, (France) = reported by laboratory in France, individual's origin not sure.
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
: Additional information on the individual's population.
: Remarks about the individual.
: An acknowledgment to data contributor to this database.
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.
How to query this table
All list views have search fields which can be used to search data.
You can search for a complete word or you can search for a part of a search term.
If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify.
Note that search terms are case-insensitive and that wildcards such as * are treated as normal text!
For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
||all entries containing 'Arg'|
||all entries containing 'Arg' and 'Ser'|
||all entries containing 'Arg' or 'Ser'|
||all entries not containing 'fs'|
||all entries beginning with 'p.(Arg'|
||all entries ending with 'Ser)'|
||all entries with this field empty|
||all entries exactly matching 'p.0'|
||all entries with this field not empty|
||all entries not exactly matching 'p.0?'|
||all entries containing '*' or 'Ter' but not containing 'fs'|
||all entries matching the year 2020|
||all entries matching March or April, 2020|
||all entries not matching March, 2020|
||all entries before the year 2020|
||all entries in or before June, 2020|
||all entries after June, 2020|
||all entries on or after June 15th, 2020|
||all entries in 2019 or 2020, and before March, 2020|
||all entries exactly matching 23|
||all entries exactly matching 23 or 24|
||all entries not exactly matching 23|
||all entries lower than 23|
||all entries lower than, or equal to, 23|
||all entries higher than 23|
||all entries higher than, or equal to, 23|
||>=20 <30 !23
||all entries with values from 20 to 29, but not equal to 23|
Some more advanced examples:
||all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.|
||all entries containing 'Asian' but not containing 'Caucasian'|
||all entries containing 'Asian' or 'African', but not containing 'Caucasian'|
||all entries containing 'South Asian', but not containing 'South East Asian'|
To sort on a certain column, click on the column header or on the arrows.
If that column is already selected to sort on, the sort order will be swapped.
The column currently sorted on has a darker blue background color than the other columns.
The up and down arrows next to the column name indicate the current sorting direction.
When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
||How to query |
||How to query |