Locus Specific Mutation Databases

Information If you wish to add a gene you can do so here.

Please select the first letter of the Gene:
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Or, specify the HGNC Gene Symbol:

38804 entries on 389 pages. Showing entries 1 - 100.
« First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

AscendingSymbol     
Database name     
Curators     
Software     
Last updated     
A1BG LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A1BG		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
A1BG LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A1BG		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
A1BG-AS1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A1BG-AS1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
A1BG-AS1 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A1BG-AS1		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
A1CF LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A1CF		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
A1CF LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A1CF		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-13
A2LD1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A2LD1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
A2M LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A2M		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
A2M LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A2M		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-13
A2M Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=A2M		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
A2M-AS1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A2M-AS1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
A2ML1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A2ML1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
A2ML1 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A2ML1		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-13
A2MP1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A2MP1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
A4GALT LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A4GALT		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
A4GALT Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=A4GALT		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
A4GALT LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A4GALT		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-10
A4GNT LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A4GNT		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
A4GNT LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A4GNT		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-17
AAAS LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AAAS		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AAAS LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAAS		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-13
AAAS Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=AAAS		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
AACS LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AACS		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AACS LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AACS		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-13
AACSP1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AACSP1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AACSP1 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AACSP1		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-15
AADAC LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AADAC		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AADAC LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AADAC		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-17
AADACL2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AADACL2		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AADACL2 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AADACL2		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-17
AADACL3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AADACL3		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AADACL3 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AADACL3		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-18
AADACL4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AADACL4		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AADAT LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AADAT		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AADAT LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AADAT		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-17
AAED1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AAED1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AAED1 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAED1		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-12
AAGAB LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAGAB		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-12
AAGAB LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AAGAB		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AAK1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AAK1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AAMDC LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AAMDC		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AAMDC LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAMDC		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-13
AAMP LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AAMP		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AANAT LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AANAT		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AANAT Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=AANAT		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
AARS LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AARS		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-12
AARS LOVD - Leiden Open Variation Database
https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=AARS		 LOVD-team, but with Curator vacancy
Leiden University Medical Center		 LOVD 2.X 2011-07-27
AARS LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AARS		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AARS2 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AARS2		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-14
AARS2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AARS2		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AARSD1 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AARSD1		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
AARSD1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AARSD1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AASDH LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AASDH		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AASDH LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AASDH		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-15
AASDHPPT LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AASDHPPT		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AASDHPPT LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AASDHPPT		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-13
AASS LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AASS		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AASS Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=AASS		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
AATF LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AATF		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AATF LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AATF		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
AATK LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AATK		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
AATK LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AATK		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AATK-AS1 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AATK-AS1		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
AATK-AS1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AATK-AS1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABAT LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABAT		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
ABAT LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABAT		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABAT Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ABAT		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
ABCA1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA1		 Mohammad Mahdi Motazacker & LOVD-team, but with Curator vacancy
Academic Medical Center
LUMC		 LOVD 3.X Unknown
ABCA1 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA1		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-12
ABCA10 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA10		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
ABCA10 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA10		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA11P LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA11P		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA12 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA12		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA12 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ABCA12		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
ABCA12 Mutations of the ATP-binding Cassette Transporter A 12 (ABCA12) associated with harlequin ichthyosis, congenital ichthyosiform erythroderma and lamellar ichthyosis
http://www.med.nagoya-u.ac.jp/derma/ABCA12/		 Masashi Akiyama and Kaori Sakai
Hokkaido University Graduate School of Medicine, Japan		 None (static pages) Unknown
ABCA13 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA13		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-14
ABCA13 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA13		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA13 LOVD - Leiden Open Variation Database
http://chromium.liacs.nl/LOVD2/home.php?select_db=ABCA13		 Ben Pickard & Johan den Dunnen
University of Edinburgh
home		 LOVD 2.X 2010-01-05
ABCA17P LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA17P		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA2		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA2 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA2		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-13
ABCA3 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA3		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
ABCA3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA3		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA3 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ABCA3		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
ABCA4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA4		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA4 Mutations of the ATP-binding Cassette Transporter Retina
http://www.retina-international.org/files/sci-news/abcrmut.htm		 Retina International
 None (static pages) Unknown
ABCA4 Eye diseases - LOVD
http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=ABCA4		 Johan den Dunnen
home		 LOVD 2.X 2012-09-21
ABCA5 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA5		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
ABCA5 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA5		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA6 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA6		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
ABCA6 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA6		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA7 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA7		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA7 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA7		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
ABCA8 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA8		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
ABCA8 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA8		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCA9 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCA9		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-11
ABCA9 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA9		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCB1 LOVD - Leiden Open Variation Database
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ABCB1		 Graham Taylor
University of Melbourne		 LOVD 3.X 2013-06-14
ABCB1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCB1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCB1 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ABCB1		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
« First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »