Locus Specific Mutation Databases

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2530 entries on 26 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

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
https://www.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
https://databases.lovd.nl/shared/genes/L1CAM
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
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
L1CAM Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/L1CAM
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
L1TD1 ClinVar at NCBI
https://www.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
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
L1TD1 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/L1TD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L2HGDH LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L2HGDH
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
L2HGDH ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L2HGDH[gene]

- - Other 2014-03-07
L2HGDH LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/L2HGDH
Gajja Salomons
Clinical Chemistry, Metabolic Unit
- - LOVD 3.X 2016-11-16
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 2017-01-13
L3HYPDH ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3HYPDH[gene]

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

- - Other 2014-03-07
L3MBTL1 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/L3MBTL1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
L3MBTL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL2[gene]

- - Other 2014-09-01
L3MBTL2 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/L3MBTL2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-10
L3MBTL2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/L3MBTL2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
L3MBTL3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/L3MBTL3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
L3MBTL3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL3[gene]

- - Other 2014-08-07
L3MBTL3 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/L3MBTL3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
L3MBTL4 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/L3MBTL4
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
L3MBTL4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL4[gene]

- - Other 2014-09-01
L3MBTL4 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/L3MBTL4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
LACC1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LACC1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
LACC1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACC1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
LACC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACC1[gene]

- - Other 2014-03-07
LACC1 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LACC1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACE1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACE1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
LACE1 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LACE1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
LACE1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LACE1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
LACRT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACRT[gene]

- - Other 2014-03-07
LACRT LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LACRT
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACTB LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACTB
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
LACTB LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LACTB
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACTB2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACTB2[gene]

- - Other 2014-03-07
LACTB2 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LACTB2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACTB2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACTB2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
LACTB2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LACTB2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
LACTBL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACTBL1[gene]

- - Other 2014-06-02
LACTBL1 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LACTBL1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACTBL1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACTBL1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
LAD1 ClinVar at NCBI
https://www.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
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
LAD1 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
LAG3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAG3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
LAG3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAG3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
LAG3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LAG3[gene]

- - Other 2014-09-01
LAG3 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAG3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LAGE3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LAGE3[gene]

- - Other 2014-09-01
LAGE3 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAGE3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-12-16
LAGE3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAGE3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
LAGE3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAGE3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
LAIR1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAIR1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
LAIR1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LAIR1[gene]

- - Other 2014-03-07
LAIR1 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAIR1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LAIR1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAIR1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
LAIR2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LAIR2[gene]

- - Other 2014-03-07
LAIR2 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAIR2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LALBA ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LALBA[gene]

- - Other 2014-03-07
LALBA LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LALBA
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LAMA1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAMA1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
LAMA1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LAMA1[gene]

- - Other 2014-09-01
LAMA1 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAMA1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-12-20
LAMA1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMA1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
LAMA2 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAMA2
Johan den Dunnen & Jorge Oliveira
private
Centro de Genética Médica Dr. Jacinto Magalhães, Centro Hospitalar do Porto
- - LOVD 3.X 2017-08-04
LAMA2 ClinVar at NCBI
https://www.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
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
LAMA2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAMA2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
LAMA3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAMA3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
LAMA3 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAMA3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2011-04-05
LAMA3 LOVD - Leiden Open Variation Database
http://dna2.leeds.ac.uk/LOVD/genes/LAMA3
agne antanaviciute
University of Leeds
- - LOVD 3.X 2017-03-02
LAMA3 ClinVar at NCBI
https://www.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
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
LAMA4 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAMA4
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
LAMA4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LAMA4[gene]

- - Other 2014-08-07
LAMA4 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAMA4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-06-11
LAMA4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMA4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
LAMA5 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAMA5
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
LAMA5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LAMA5[gene]

- - Other 2014-09-01
LAMA5 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAMA5
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LAMA5 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMA5
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
LAMB1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAMB1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
LAMB1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LAMB1[gene]

- - Other 2014-03-07
LAMB1 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAMB1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LAMB1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LAMB1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
LAMB2 ClinVar at NCBI
https://www.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
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
LAMB2 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAMB2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2014-07-25
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 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAMB2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
LAMB2P1 LOVD 3.0 shared installation
https://databases.lovd.nl/shared/genes/LAMB2P1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LAMB3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/LAMB3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
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