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 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
: 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".
: 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.
: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
- RNA = RNA (cDNA)
- ? = unknown
: Technique(s) used to identify the sequence variant.
Date of test
- ? = Unknown
- SEQ-NG = Next-Generation Sequencing
- SEQ = SEQuencing
- MLPA = Multiplex Ligation-dependent Probe Amplification
- SEQ-NG-H = Next-Generation Sequencing - Helicos
- SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
- SEQ-NG-R = Next-Generation Sequencing - Roche/454
- SEQ-NG-S = Next-Generation Sequencing - SOLiD
- arrayCGH = array for Comparative Genomic Hybridisation
- arraySEQ = array for resequencing
- arraySNP = array for SNP typing
- arrayCNV = array for Copy Number Variation (SNP and CNV probes)
- BESS = Base Excision Sequence Scanning
- CMC = Chemical Mismatch Cleavage
- CSCE = Conformation Sensitive Capillary Electrophoresis
- DECoN = Detection of Exon Copy Number variants
- DGGE = Denaturing-Gradient Gel-Electrophoresis
- DHPLC = Denaturing High-Performance Liquid Chromatography
- DOVAM = Detection Of Virtually All Mutations (SSCA variant)
- ddF = dideoxy Fingerprinting
- DSCA = Double-Strand DNA Conformation Analysis
- EMC = Enzymatic Mismatch Cleavage
- HD = HeteroDuplex analysis
- MCA = high-resolution Melting Curve Analysis (hrMCA)
- IHC = Immuno-Histo-Chemistry
- MAPH = Multiplex Amplifiable Probe Hybridisation
- Northern = Northern blotting
- PCR = Polymerase Chain Reaction
- PCRdig = PCR + restriction enzyme digestion
- PCRlr = PCR, long-range
- PCRm = PCR, multiplex
- PCRq = PCR, quantitative
- PAGE = Poly-Acrylamide Gel-Electrophoresis
- PTT = Protein Truncation Test
- PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
- RT-PCR = Reverse Transcription and PCR
- SBE = Single Base Extension
- SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
- SSCAf = SSCA, fluorescent (SSCP)
- Southern = Southern blotting
- TaqMan = TaqMan assay
- Western = Western Blotting
- in-house algorithm for CNV
- z-score-CNV = z-score based algorithm for CNV detection in targeted NGS
: Date in which the results of the test were informed to the pacient
: Name of the Laboratory that performed the screening.
- Hospital Privado Centro Médico de Córdoba
- Hospital Privado Centro médico de Córdoba/IACA
- Ambry Genetics
- Alexander Fleming
- Alexander Fleming/Baylor College
- Alexander Fleming/Genesia-INVITAE
- Baylor Genetics
- BIOMAKERS Molecular Pathology & Research
- Blueprint Genetics
- Centro de diagnóstico molecular
- CEPIMP Genomics
- Clinica Universitaria Reina Fabiola
- DIAGNUS LAB
- Dr. Rapela
- Fares Taie
- Fundación para el Progreso de la Medicina
- Fundación para el Progreso de la Medicina/CIBIC/Héritas
- Health in code
- High Medic Group
- Hospital Alemán
- Hospital de Gastroenterologia
- Sanatorio Allende
- Centro médico de Córdoba
- Hospital Austral
- Bioscreen Rosario
Type of test
: Type of test
- Known familial mutation
- Multigenetic panel
- Specific pathology
- Ashkenazi panel
- Germline variant found in somatic testing
- Whole exome
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
: 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.
: Remarks about the individual.
: Principales canceres que motivan la sospecha clinica
How to query this table
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||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|
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||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'|
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||all entries containing 'South Asian', but not containing 'South East Asian'|
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||How to query |
||How to query |