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.
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
: Description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
: Homozygous or Heterozygous
- Not specified
: If the variant is present in co-ocurrence with a mutation, please select the name of the mutated gene. If not, please select "no".
: Description of variant at RNA level (following HGVS recommendations).
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg38)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
: The dbSNP ID.
: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
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