IMPORTANT NOTE:  

 

Genes are in order of HUGO APPROVED GENE DESIGNATION not alias. e.g. "p53" will be found under "TP53" while "CD40L" or "TNFSF5" will be found under "CD40LG" and so on.

If you wish to find an Approved gene symbol please select HGNC Search.

If your gene is not in these lists, you may like to check the "Disease Centered", "Mitochondrial Mutations" or "Other mutation Databases"  database links as it may be in one of those.

If you wish to add an LSDB please go to the LSDB Submission Page

  Please note that some LSDBs have a Curator vacancy - if you would like to serve please contact the acting curator via that database.

 

A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
C2 complement component 2 217000 C2base: Mutation registry for C2 deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
CCDC22 coiled-coil domain containing 22 \N CCDC22 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
CLIC2 chloride intracellular channel 2 300138 CLIC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
DSC2 desmocollin 2 125645 ARVD/C Genes Variants Database Paul van der Zwaag, Jan Jongbloed and Peter van Tintelen, Dept. of Genetics, Univ Med Center, Groningen, The Netherlands
EFHC2 EF-hand domain (C-terminal) containing 2 \N EFHC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
ERCC2 excision repair cross-complementing rodent repair deficiency, complementation group 2 126340 Excision repair cross-complementing rodent repair deficiency, complementati (ERCC2) database Belinda Giardine and Joseph Borg
IQSEC2 IQ motif and Sec7 domain 2 300522 IQSEC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
MAGEC2 melanoma antigen family C, 2 300468 MAGEC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 602049 RAC2base: Mutation registry for Neutrophil immunodeficiency syndrome Mauno Vihinen, Univ. of Tampere, Tampere, Finland
SH3TC2 SH3 domain and tetratricopeptide repeats 2 608206 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology (VIB), University of Antwerp (UA), Belgium
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 603377 Primary Carnitine Deficiency (OCTN2) and SLC22A5 gene Database Fernanda Calderon, MS, ARUP Institute for Clinical and Experimental Pathology(r), Salt Lake City, UT, USA
SLC25A13 solute carrier family 25, member 13 (citrin) 603859 SLC25A13 Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14 300242 SLC25A14 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 603861 SLC25A15 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SLC25A43 solute carrier family 25, member 43 300641 SLC25A43 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 300150 SLC25A5 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 403000 SLC25A6 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
SLC26A4 solute carrier family 26, member 4 605646 Hereditary Hearing Loss Homepage Guy van Camp, Univ. of Antwerp, Antwerp, Belgium; Richard J.H. Smith, Univ. of Iowa Hospitals & Clinics, Iowa city, U.S.A
SLC26A4 solute carrier family 26, member 4 605646 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database Ammar Husami and Theru A. Sivakumaran
SLC29A3 solute carrier family 29 (nucleoside transporters), member 3 612373 SLC29A3 database at LOVD Dr Neil Morgan and Dr. Derek Lim
THOC2 THO complex 2 300395 THOC2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
TSC2 tuberous sclerosis 2 191092 TSC2 Mutation Database Sue Povey & Rosemary Ekong, Galton Laboratory, Biology, University

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