Many locus-specific mutation databases have been constructed and made publically available via the internet. An exhaustive list of LSDBs can be found at the HGVS.
The following UMD LSDBs can be querry directly via internet. Because of their common designed a cross-search can be performed using the new UMD Central tool
Please note that the sites listed below are not maintained in Marseille, and that all queries regarding them should be addressed to the curators of the site in question.
UMD-ACTA2 (SMC alpha actin). Curator: G. Collod-Béroud
UMD-FBN1 (fibrillin 1). Curator: G. Collod-Béroud
UMD-FBN2 (fibrillin 2). Curator: G. Collod-Béroud
UMD-MYH11 (beta-myosin heavy chain). Curator: G. Collod-Béroud
UMD-MYLK (myosin light chain kinase). Curator: G. Collod-Béroud
UMD-SMAD3 (mothers against decapentaplegic homolog 3). Curator: G. Collod-Béroud
UMD-TGFBR1 (transforming growth factor beta receptor I). Curator: G. Collod-Béroud
UMD-TGFBR2 (transforming growth factor beta receptor II). Curator: G. Collod-Béroud
UMD-THAP1 (THAP domain containing, apoptosis associated protein 1). Curator: G. Collod-Béroud
UMD-APC (adenomatosis polyposis coli). Curators: S. Olschwang, P. Grandval and A. Fabre,
UMD-BRCA1 (breast cancer 1). Curators: E. Rouleau and S. Caputo
UMD-BRCA2 (breast cancer 2). Curators: E. Rouleau and S. Caputo
UMD-MEN1 (multiple endocrine neoplasia 1). Curator: A. Mohamed and P. Romanet
UMD-MLH1 (mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)). Curator: S. Olschwang, P. Grandval and A. Fabre,
UMD-MSH2 (mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)). Curator: S. Olschwang, P. Grandval and A. Fabre,
UMD-MSH6 (mutS homolog 6 (E. coli)). Curator: S. Olschwang, P. Grandval and A. Fabre,
UMD-MUTYH (mutY homolog (E. coli)). Curator: S. Olschwang, P. Grandval and A. Fabre,
UMD-TGFBR2 (transforming growth factor beta receptor II - Cancers, Marfan syndrome, Loeys-Dietz syndrome and Familial Thoracic Aortic Aneurysms and Dissections "TAAD2"). Curator: G. Collod-Béroud
UMD-VHL (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase - von Hippel-Lindau syndrome). Curator: C. Béroud
UMD-ATP7B (ATPase, Cu++ transporting, beta polypeptide - Wilson disease). Curator: I. Ceballos
UMD-CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)). Curator: Corinne Theze
UMD-CSA (ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)). Curator: V.Laugel
UMD-CSB (ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)). Curator: V.Laugel
UMD-COL3A1 (collagen, type III, alpha 1). Restricted access. Curator: P. Khau van Kien
UMD-DFNB1-GJB2 (gap junction protein, beta 2, 26kDa (connexin 26)). Restricted access. This database is no longer maintained. For new release, go to LOVD databases
UMD-DMD (dystrophin). Curators: S. Tuffery-Giraud, F. Leturcq, R. Ben Yaou
UMD-DNM2 (dynamin 2). Curator: M. Bitoun
UMD-DPYD (dihydropyrimidine dehydrogenase - dihydropyrimidine dehydrogenase disease). Curator: JC. Boyer
UMD-DYSF (dysferlin - dysferlinopathies). Curator: G. Blandin
UMD-EMD (emerin). Curator: G. Bonne
UMD-F7 (inherited factor VII deficiency). Curator: M. Giansily-Blaizot
UMD-F10 (inherited FX deficiency). Curator: M. Giansily-Blaizot
UMD-LDLR (low density lipoprotin receptor). Curators: M. Varret and C. Boileau
UMD-LMNA (lamin A/C). Curator: G. Bonne
UMD-SLC40A1 (Solute Carrier Family 40 Member 1 or Ferroportin-1). Curators: G. Le GAC, C. Ka and K. Uguen
UMD-SMN1 (survival of motor neuron 1). Curators: P. Faure and A. Totoescu
Genes involved in Usher syndrome (Myo7A, USH1C, CDH23, PCDH15, USH1G, USH2A, USH3A). These databases are no longer maintained. For new releases, go to LOVD databases