Locus Specific Mutation Databases

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26477 entries on 265 pages. Showing entries 1 - 100.
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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-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
A1CF LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A1CF		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
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 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
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
A4GNT LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/A4GNT		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
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 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
AACSP1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AACSP1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AADAC LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AADAC		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AADACL2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AADACL2		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
AADACL3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AADACL3		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
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
AAED1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AAED1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
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
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
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 3.0 shared installation
http://databases.lovd.nl/shared/genes/AARS2		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
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
AASDHPPT LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/AASDHPPT		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
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
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 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 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
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 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
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 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA5		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
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
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 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCA9		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
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
ABCB10 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCB10		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCB11 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCB11		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCB11 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=ABCB11		 Ammar Husami
Cincinnati Children's Hospital Medical Center		 LOVD 2.X 2010-04-26
ABCB4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCB4		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCB4 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=ABCB4		 Ammar Husami
Cincinnati Children's Hospital Medical Center		 LOVD 2.X 2010-05-05
ABCB5 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCB5		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCB5 Eye diseases - LOVD
http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=ABCB5		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2013-02-11
ABCB6 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCB6		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCB7 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCB7		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCB7 X-chromosome gene database
http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=ABCB7		 Johan den Dunnen & LOVD-team, but with Curator vacancy
home
LUMC, Leiden, Nederland		 LOVD 2.X 2009-05-19
ABCB8 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCB8		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCB9 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCB9		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC10 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC10		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC11 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC11		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC11 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ABCC11		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2012-09-09
ABCC12 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC12		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC13 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC13		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC2		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC2 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ABCC2		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
ABCC3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC3		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC4		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC5 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC5		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC5-AS1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC5-AS1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC6 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC6		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC6 Eye diseases - LOVD
http://grenada.lumc.nl/LOVD2/eye/home.php?select_db=ABCC6		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2013-02-27
ABCC6 Mutations of the Multidrug Resistance-associated Protein 6 (ABCC6/ MPR6/ MOAT-E)
http://www.retina-international.org/files/sci-news/abcc6mut.htm		 Retina International
 None (static pages) Unknown
ABCC6 LOVD at NCBI
http://www.ncbi.nlm.nih.gov/lovd/home.php?select_db=ABCC6		 Tim Hefferon & Sharon Terry
NCBI
PXE International		 LOVD 2.X 2013-03-05
ABCC6P1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC6P1		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC6P2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC6P2		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC8 LOVD - Munich Open Variation Database
http://ihg.helmholtz-muenchen.de/LOVDv.2.0/home.php?select_db=ABCC8		 Oliver Blankenstein & Tim M Strom & Bettina Lorenz-Depiereux & Carola Fischer
Charite
Institute of Human Genetics		 LOVD 2.X 2012-06-12
ABCC8 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC8		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC8 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ABCC8		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
ABCC9 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/ABCC9		 LOVD-team, but with Curator vacancy
LUMC		 LOVD 3.X Unknown
ABCC9 ZJU-CGGM & BGI-Shenzhen
http://www.genomed.org/LOVD/CM/home.php?select_db=ABCC9		 Peikuan Cong & Yuanli Lei & Ming Qi, PhD, FACMG & deng
ZJU-CGGM
BGI
Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
bgi		 LOVD 2.X 2012-01-10
ABCC9 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=ABCC9		 LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL		 LOVD 2.X 2010-04-29
ABCC9 Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://www.genomed.org/lovd2/home.php?select_db=ABCC9		 Ming Qi, PhD, FACMG & Peikuan Cong & Yuanli Lei
Zhejiang University
Zhejiang University School of Medicine		 LOVD 2.X 2013-05-17
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