Legend
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.
Affects function: 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.
Exon: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
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. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change: description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- 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
Protein: 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
VariO/DNA: variation ontology annotation at DNA level
All options:
- DNA substitution (VariO:0136)
- transition (VariO:0313)
- pyrimidine transition (VariO:0314)
- purine transition (VariO:0315)
- not changed (VariO:0140)
- DNA deletion (VariO:0141)
- DNA insertion (VariO:0142)
- DNA indel (VariO:0143)
- DNA inversion (VariO:0145)
- DNA translocation (VariO:0144)
- transversion (VariO:0316)
VariO/RNA: variation ontology annotation at RNA level
All options:
- RNA substitution (VariO:0312)
- transition (VariO:0313)
- pyrimidine transition (VariO:0314)
- purine transition (VariO:0315)
- transversion (VariO:0316)
- missense variation (VariO:0308)
- initiation codon change (VariO:0317)
- termination codon change (VariO:0309)
- nonsense variation (VariO:0310)
- silent variation (VariO:0318)
- RNA deletion (VariO:0319)
- in-frame deletion (VariO:0320)
- out-of-frame deletion (VariO:0321)
- RNA insertion (VariO:0326)
- in-frame insertion (VariO:0332)
- out-of-frame insertion (VariO:0327)
- RNA indel (VariO:0311)
- in-frame indel (VariO:0030)
- out-of-frame indel (VariO:0031)
- effect on RNA splicing (VariO:0362)
- intron gain (VariO:0364)
- RNA splicing change (VariO:0334)
- exon loss (VariO:0381)
- missing RNA (VariO:0245)
- unsense variation (VariO:0514)
VariO/Protein: variation ontology annotation at protein level
All options:
- protein truncation (VariO:0015)
- sequence retaining amino acid deletion (VariO:0016)
- nonsynonymous variation (VariO:0017)
- amino acid insertion (VariO:0018)
- amphigoric amino acid insertion (VariO:0019)
- sequence retaining amino acid insertion (VariO:0020)
- amino acid substitution (VariO:0021)
- amino acid indel (VariO:0022)
- amphigoric amino acid indel (VariO:0023)
- missing protein (VariO:0240)
- sequence retaining amino acid indel (VariO:0029)
- alternatively initiated protein (VariO:0443)
- artificial protein variation (VariO:0246)
- mistranslated protein (VariO:0330)
- protein structural inheritance (VariO:0026)
- epigenetic protein variation (VariO:0025)
- post translational modification (VariO:0028)
- proteinaceous infection (VariO:0027)
P-domain: region/domain protein affected
Protein level: Level of translated protein in peripheral blood mononuclear cells. The level is indicated in relative terms as normal/(much) increased/(much) reduced/absent.
mRNA level: Level of transcribed mRNA present in peripheral blood mononuclear cells. The level is indicated in relative terms as normal/(much) increased/(much) reduced/absent.
Enzyme activity: activity variant enzym
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.
| Operator |
Column type |
Example |
Matches |
| |
Text |
Arg |
all entries containing 'Arg' |
| space |
Text |
Arg Ser |
all entries containing 'Arg' and 'Ser' |
| | |
Text |
Arg|Ser |
all entries containing 'Arg' or 'Ser' |
| ! |
Text |
!fs |
all entries not containing 'fs' |
| ^ |
Text |
^p.(Arg |
all entries beginning with 'p.(Arg' |
| $ |
Text |
Ser)$ |
all entries ending with 'Ser)' |
| ="" |
Text |
="" |
all entries with this field empty |
| ="" |
Text |
="p.0" |
all entries exactly matching 'p.0' |
| !="" |
Text |
!="" |
all entries with this field not empty |
| !="" |
Text |
!="p.0" |
all entries not exactly matching 'p.0?' |
| combination |
Text |
*|Ter !fs |
all entries containing '*' or 'Ter' but not containing 'fs' |
|
Date |
2020 |
all entries matching the year 2020 |
| | |
Date |
2020-03|2020-04 |
all entries matching March or April, 2020 |
| ! |
Date |
!2020-03 |
all entries not matching March, 2020 |
| < |
Date |
<2020 |
all entries before the year 2020 |
| <= |
Date |
<=2020-06 |
all entries in or before June, 2020 |
| > |
Date |
>2020-06 |
all entries after June, 2020 |
| >= |
Date |
>=2020-06-15 |
all entries on or after June 15th, 2020 |
| combination |
Date |
2019|2020 <2020-03 |
all entries in 2019 or 2020, and before March, 2020 |
|
Numeric |
23 |
all entries exactly matching 23 |
| | |
Numeric |
23|24 |
all entries exactly matching 23 or 24 |
| ! |
Numeric |
!23 |
all entries not exactly matching 23 |
| < |
Numeric |
<23 |
all entries lower than 23 |
| <= |
Numeric |
<=23 |
all entries lower than, or equal to, 23 |
| > |
Numeric |
>23 |
all entries higher than 23 |
| >= |
Numeric |
>=23 |
all entries higher than, or equal to, 23 |
| combination |
Numeric |
>=20 <30 !23 |
all entries with values from 20 to 29, but not equal to 23 |
Some more advanced examples:
| Example |
Matches |
| Asian |
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc. |
| Asian !Caucasian |
all entries containing 'Asian' but not containing 'Caucasian' |
| Asian|African !Caucasian |
all entries containing 'Asian' or 'African', but not containing 'Caucasian' |
| "South Asian" |
all entries containing 'South Asian', but not containing 'South East Asian' |
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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.
