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LOVD specifications


Unique identifier OMICS_00275
Alternative name Leiden Open Variation Database
Restrictions to use None
Version 3.0
Maintained Yes
Wikipedia https://en.wikipedia.org/wiki/Leiden_Open_Variation_Database


  • Primates
    • Homo sapiens


  • person_outline Peter E. M. Taschner

Publications for Leiden Open Variation Database

LOVD citations


Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

PMCID: 5924558
PMID: 29673180
DOI: 10.3390/genes9040216

[…] classification as a missense mutation, considering the concordantly damaging scores of both SIFT and Polyphen2. Finally, the c.6755A>G (p.Lys2252Arg) variant—classified as a missense mutation by both LOVD and HGMD mutation databases—was predicted to alter splicing by four of the five Alamut predictors. Polyphen2 predicted this variant to be damaging at the protein level, while both SIFT and Mutati […]


Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early onset/familial prostate cancer

PLoS Genet
PMCID: 5919682
PMID: 29659569
DOI: 10.1371/journal.pgen.1007355
call_split See protocol

[…] invar/, accessed in January, 2017), Breast Cancer Information Core [BIC (https://research.nhgri.nih.gov/bic/), accessed in January, 2017)], and InSiGHT (via the Leiden Open-source Variation Database [LOVD (http://www.lovd.nl/3.0/home), accessed in January, 2017] []), were discarded. […]


Combining targeted panel based resequencing and copy number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

Sci Rep
PMCID: 5869593
PMID: 29588463
DOI: 10.1038/s41598-018-23520-1
call_split See protocol

[…] scribed,, based on the following criteria: i) variants previously reported as pathogenic in mutation databases, including HGMD Professional (http://www.biobase-international.com/product/hgmd) and the Leiden Open Variation Database (http://www.lovd.nl/3.0/home); ii) LOF variants such as nonsense, frameshift, and those located at the canonical splice site; iii) variants filtered out, focusing on rar […]


Rubinstein Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

BMC Med Genet
PMCID: 5839060
PMID: 29506490
DOI: 10.1186/s12881-018-0548-2

[…] , all were confirmed by Sanger sequencing. To the best of our knowledge, these variants are novel (although two of them were previously described [], Table ), and are not included in ClinVar, HGMD or LOVD. They have been submitted to ClinVar (SCV266471, SCV000297724-SCV000297728, SCV000301482) and LOVD databases (variants #0000096186, #0000127944–0000127949, #0000130337). Furthermore, none of the […]


Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

PMCID: 5814433
PMID: 29479477
DOI: 10.1038/s41525-018-0046-7

[…] tolerant From Tolerant (SIFT)(sift.jcvi.org), Polyphen2 (genetics.bwh.harvard.edu/pph2), dbSNP (www.ncbi.nlm.nih.gov/projects/SNP), Breast Information Core Database (BIC)(research.nhgri.nih.gov/bic), Leiden Open Variation Database (LOVD)(www.lovd.nl/3.0/home), Universal Mutation Database (UMD)(www.umd.be/BRCA1), and BRCA Exchange (brcaexchange.org).–Interpretation of VUS is an important clinical i […]


ARMC5 mutations in familial and sporadic primary bilateral macronodular adrenal hyperplasia

PLoS One
PMCID: 5784932
PMID: 29370219
DOI: 10.1371/journal.pone.0191602

[…] re tested twice in two independent experiments. The nomenclature of the variants was based on the ARMC5 NCBI Reference Sequence NM_001105247.1 and was verified using the Mutalyzer program (http://www.LOVD.nl/mutalyzer/). […]


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LOVD institution(s)
Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands

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