Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

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5222 entries on 53 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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/L1CAM
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L1CAM
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-12-01
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L1TD1
Admin
BRAINN
- - LOVD 3.X 2018-09-30
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L1TD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L1TD1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/L1TD1
Admin
BRAINN
- - LOVD 3.X 2018-10-03
L1TD1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L1TD1
Admin
BRAINN
- - LOVD 3.X 2018-10-20
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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/L2HGDH
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L2HGDH ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L2HGDH[gene]

- - Other 2014-03-07
L2HGDH BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L2HGDH
Admin
BRAINN
- - LOVD 3.X 2018-10-14
L2HGDH Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L2HGDH
Gajja Salomons
Clinical Chemistry, Metabolic Unit
- - LOVD 3.X 2018-11-01
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 2018-11-01
L3HYPDH BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/L3HYPDH
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L3HYPDH ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3HYPDH[gene]

- - Other 2014-03-07
L3HYPDH BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3HYPDH
Admin
BRAINN
- - LOVD 3.X 2018-10-03
L3HYPDH BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3HYPDH
Admin
BRAINN
- - LOVD 3.X 2018-10-06
L3HYPDH Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3HYPDH
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/L3MBTL1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L3MBTL1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3MBTL1
Admin
BRAINN
- - LOVD 3.X 2018-10-22
L3MBTL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL1[gene]

- - Other 2014-03-07
L3MBTL1 Global Variome shared LOVD
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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/L3MBTL2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L3MBTL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL2[gene]

- - Other 2014-09-01
L3MBTL2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3MBTL2
Admin
BRAINN
- - LOVD 3.X 2018-10-11
L3MBTL2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3MBTL2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3MBTL2
Admin
BRAINN
- - LOVD 3.X 2018-10-06
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3MBTL3
Admin
BRAINN
- - LOVD 3.X 2018-10-16
L3MBTL3 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3MBTL3
Admin
BRAINN
- - LOVD 3.X 2018-10-09
L3MBTL3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/L3MBTL3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L3MBTL3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL3[gene]

- - Other 2014-08-07
L3MBTL3 Global Variome shared LOVD
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3MBTL4
Admin
BRAINN
- - LOVD 3.X 2018-10-09
L3MBTL4 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/L3MBTL4
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L3MBTL4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL4[gene]

- - Other 2014-09-01
L3MBTL4 Global Variome shared LOVD
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
L3MBTL4 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3MBTL4
Admin
BRAINN
- - LOVD 3.X 2018-10-04
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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/LACC1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
LACC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACC1[gene]

- - Other 2014-03-07
LACC1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/LACC1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACC1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LACC1
Admin
BRAINN
- - LOVD 3.X 2018-10-02
LACC1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/LACC1
Admin
BRAINN
- - LOVD 3.X 2018-10-06
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 Global Variome shared LOVD
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LACRT
Admin
BRAINN
- - LOVD 3.X 2018-10-15
LACRT BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/LACRT
Admin
BRAINN
- - LOVD 3.X 2017-10-26
LACRT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACRT[gene]

- - Other 2014-03-07
LACRT Global Variome shared LOVD
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LACTB
Admin
BRAINN
- - LOVD 3.X 2018-10-13
LACTB BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/LACTB
Admin
BRAINN
- - LOVD 3.X 2017-10-26
LACTB Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/LACTB
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACTB2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/LACTB2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
LACTB2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACTB2[gene]

- - Other 2014-03-07
LACTB2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/LACTB2
Admin
BRAINN
- - LOVD 3.X 2018-10-19
LACTB2 Global Variome shared LOVD
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LACTB2
Admin
BRAINN
- - LOVD 3.X 2018-10-10
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
LACTB2-AS1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/LACTB2-AS1
Admin
BRAINN
- - LOVD 3.X 2018-10-19
LACTBL1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LACTBL1
Admin
BRAINN
- - LOVD 3.X 2018-10-15
LACTBL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACTBL1[gene]

- - Other 2014-06-02
LACTBL1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/LACTBL1
Admin
BRAINN
- - LOVD 3.X 2018-10-18
LACTBL1 Global Variome shared LOVD
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LAD1
Admin
BRAINN
- - LOVD 3.X 2018-10-16
LAD1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/LAD1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/LAD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
LAD1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/LAD1
Admin
BRAINN
- - LOVD 3.X 2018-10-21
LAG3 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LAG3
Admin
BRAINN
- - LOVD 3.X 2018-10-01
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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/LAG3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
LAG3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LAG3[gene]

- - Other 2014-09-01
LAG3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/LAG3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LAG3 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/LAG3
Admin
BRAINN
- - LOVD 3.X 2018-10-05
LAGE3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LAGE3[gene]

- - Other 2014-09-01
LAGE3 Global Variome shared LOVD
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
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