Locus Specific Mutation Databases

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2254 entries on 23 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Software     

Last updated     
L1CAM NGRL, Manchester LOVD
http://secure.ngrl.org.uk/LOVDv.2.0/home.php?select_db=L1CAM
Simon Ramsden & Bharathi Kattamuri
NGRL Manchester
LOVD 2.X 2012-03-02
L1CAM ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=L1CAM[gene]

Other 2014-09-01
L1CAM L1CAM Mutation Web Page
http://www.l1cammutationdatabase.info
Yvonne Vos
University Medical Center Groningen, The Netherlands
Other Unknown
L1CAM LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/L1CAM

LOVD 3.X Unknown
L1CAM HSP Mutation Database
https://gwas.biosciencedbc.jp/cgi-bin/hvdb/hv_pos.cgi?gid=EG3897
Makiko Yoshida
Tokyo University Hospital, Tokyo University, and The central Research Laboratory of Hitachi Ltd.
Other 0000-00-00
L1CAM LOVD - Leiden Open Variation Database
http://grenada.lumc.nl/LOVD2/L1CAM/home.php?select_db=L1CAM
Yvonne Vos
University Medical Center Groningen
LOVD 2.X 2009-11-12
L1TD1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=L1TD1[gene]

Other 2014-03-07
L1TD1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L1TD1

LOVD 3.X Unknown
L1TD1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/L1TD1

LOVD 3.X Unknown
L2HGDH LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L2HGDH

LOVD 3.X Unknown
L2HGDH ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=L2HGDH[gene]

Other 2014-03-07
L2HGDH LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/L2HGDH

LOVD 3.X Unknown
L2HGDH LOVD - Leiden Open Variation Database
http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=L2HGDH
Gajja Salomons
Clinical Chemistry, Metabolic Unit, VUmc, Amsterdam
LOVD 2.X 2014-02-04
L3HYPDH ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=L3HYPDH[gene]

Other 2014-03-07
L3MBTL1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=L3MBTL1[gene]

Other 2014-03-07
L3MBTL1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/L3MBTL1

LOVD 3.X Unknown
L3MBTL1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL1

LOVD 3.X Unknown
L3MBTL2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=L3MBTL2[gene]

Other 2014-09-01
L3MBTL2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/L3MBTL2

LOVD 3.X Unknown
L3MBTL2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL2

LOVD 3.X Unknown
L3MBTL3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=L3MBTL3[gene]

Other 2014-08-07
L3MBTL3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/L3MBTL3

LOVD 3.X Unknown
L3MBTL3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL3

LOVD 3.X Unknown
L3MBTL4 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=L3MBTL4[gene]

Other 2014-09-01
L3MBTL4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/L3MBTL4

LOVD 3.X Unknown
L3MBTL4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL4

LOVD 3.X Unknown
LACC1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACC1

LOVD 3.X Unknown
LACC1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LACC1[gene]

Other 2014-03-07
LACC1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LACC1

LOVD 3.X Unknown
LACE1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACE1

LOVD 3.X Unknown
LACE1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LACE1

LOVD 3.X Unknown
LACRT ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LACRT[gene]

Other 2014-03-07
LACRT LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LACRT

LOVD 3.X Unknown
LACTB LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACTB

LOVD 3.X Unknown
LACTB LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LACTB

LOVD 3.X Unknown
LACTB2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LACTB2[gene]

Other 2014-03-07
LACTB2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LACTB2

LOVD 3.X Unknown
LACTB2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACTB2

LOVD 3.X Unknown
LACTBL1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LACTBL1[gene]

Other 2014-06-02
LACTBL1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LACTBL1

LOVD 3.X Unknown
LACTBL1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACTBL1

LOVD 3.X Unknown
LAD1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAD1[gene]

Other 2014-03-07
LAD1 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=LAD1
Ammar Husami
Cincinnati Children's Hospital Medical Center
LOVD 2.X 2014-05-01
LAD1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAD1

LOVD 3.X Unknown
LAD1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAD1

LOVD 3.X Unknown
LAG3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAG3

LOVD 3.X Unknown
LAG3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAG3[gene]

Other 2014-09-01
LAG3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAG3

LOVD 3.X Unknown
LAGE3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAGE3[gene]

Other 2014-09-01
LAGE3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAGE3

LOVD 3.X Unknown
LAGE3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAGE3

LOVD 3.X Unknown
LAIR1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAIR1[gene]

Other 2014-03-07
LAIR1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAIR1

LOVD 3.X Unknown
LAIR1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAIR1

LOVD 3.X Unknown
LAIR2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAIR2[gene]

Other 2014-03-07
LAIR2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAIR2

LOVD 3.X Unknown
LALBA ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LALBA[gene]

Other 2014-03-07
LALBA LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LALBA

LOVD 3.X Unknown
LAMA1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMA1[gene]

Other 2014-09-01
LAMA1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMA1

LOVD 3.X Unknown
LAMA1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMA1

LOVD 3.X Unknown
LAMA2 Leiden Muscular Dystrophy pages
http://www.dmd.nl/nmdb2/home.php?select_db=LAMA2
Johan den Dunnen
private
LOVD 2.X 2014-06-06
LAMA2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMA2

LOVD 3.X Unknown
LAMA2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMA2[gene]

Other 2014-06-02
LAMA2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMA2

LOVD 3.X Unknown
LAMA3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMA3

LOVD 3.X Unknown
LAMA3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMA3[gene]

Other 2014-09-01
LAMA3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMA3

LOVD 3.X Unknown
LAMA4 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMA4[gene]

Other 2014-08-07
LAMA4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMA4

LOVD 3.X Unknown
LAMA4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMA4

LOVD 3.X Unknown
LAMA4 MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/LAMA4
Lishuang Shen
Massachusetts Eye and Ear Infirmary
LOVD 3.X 2014-04-18
LAMA5 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMA5[gene]

Other 2014-09-01
LAMA5 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMA5

LOVD 3.X Unknown
LAMA5 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMA5

LOVD 3.X Unknown
LAMB1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMB1[gene]

Other 2014-03-07
LAMB1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMB1

LOVD 3.X Unknown
LAMB1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMB1

LOVD 3.X Unknown
LAMB2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMB2[gene]

Other 2014-06-02
LAMB2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMB2

LOVD 3.X Unknown
LAMB2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMB2

LOVD 3.X Unknown
LAMB2 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=LAMB2
LOVD-team, but with Curator vacancy & Prof. Dr. med. Martin Zenker
Human & Clinical Genetics, LUMC, Leiden, NL
Human Genetics, University Hospital Magdeburg
LOVD 2.X 2013-01-05
LAMB2 Magdeburg Mutation Database
http://www.med.uni-magdeburg.de/lovd/home.php?select_db=LAMB2

LOVD 2.X Unknown
LAMB2P1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMB2P1

LOVD 3.X Unknown
LAMB3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMB3[gene]

Other 2014-03-07
LAMB3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMB3

LOVD 3.X Unknown
LAMB3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMB3

LOVD 3.X Unknown
LAMB4 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMB4[gene]

Other 2014-03-07
LAMB4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMB4

LOVD 3.X Unknown
LAMB4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMB4

LOVD 3.X Unknown
LAMC1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMC1

LOVD 3.X Unknown
LAMC1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMC1[gene]

Other 2014-04-03
LAMC1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMC1

LOVD 3.X Unknown
LAMC1 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=LAMC1
LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL
LOVD 2.X 2013-04-11
LAMC2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMC2

LOVD 3.X Unknown
LAMC2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMC2[gene]

Other 2014-03-07
LAMC2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/LAMC2

LOVD 3.X Unknown
LAMC3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMC3

LOVD 3.X Unknown
LAMC3 LOVD - Leiden Open Variation Database
https://grenada.lumc.nl/LOVD2/shared1/home.php?select_db=LAMC3
LOVD-team, but with Curator vacancy
Leiden University Medical Center
LOVD 2.X 2012-12-07
LAMC3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=LAMC3[gene]

Other 2014-09-01
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