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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13884 entries on 139 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
L1CAM ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L1CAM[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 616 ClinVar 2021-10-02
L1CAM Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L1CAM
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 89 LOVD 3.X 2021-09-17
L1CAM BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L1CAM
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L1CAM BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L1CAM
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
L1CAM BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L1CAM
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L1CAM L1CAM Mutation Web Page
http://www.l1cammutationdatabase.info
Yvonne Vos
University Medical Center Groningen, The Netherlands
Rating: 0Rating: 0Rating: 0Rating: 0 - Other 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.
Rating: 0Rating: 0Rating: 0Rating: 0 - Other 0000-00-00
L1CAM BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L1CAM
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-17
L1CAM-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L1CAM-AS1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 121 ClinVar 2021-09-08
L1TD1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L1TD1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 29 ClinVar 2020-12-08
L1TD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L1TD1
Global Variome, with Curator vacancy
Database manager
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
L1TD1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L1TD1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-09-30
L1TD1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L1TD1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-18
L1TD1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L1TD1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L1TD1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L1TD1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L1TD1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L1TD1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
L2HGDH Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L2HGDH
Gajja Salomons & Eric Wever
Clinical Chemistry, Metabolic Unit
Amsterdam University Medical Center location VUmc
Rating: 4Rating: 4Rating: 4Rating: 4 104 LOVD 3.X 2021-09-17
L2HGDH ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L2HGDH[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 118 ClinVar 2021-10-02
L2HGDH Iran Variome Database
https://variome.ir/lovd/genes/L2HGDH
Saeed Reza Ghaffari
Iran Variome
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X 2021-01-02
L2HGDH LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L2HGDH
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-08-02
L2HGDH BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L2HGDH
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
L2HGDH BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L2HGDH
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-14
L2HGDH BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L2HGDH
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L2HGDH BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L2HGDH
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L3HYPDH ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3HYPDH[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 13 ClinVar 2021-07-07
L3HYPDH Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3HYPDH
Global Variome, with Curator vacancy
Database manager
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
L3HYPDH BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L3HYPDH
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
L3HYPDH BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L3HYPDH
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L3HYPDH BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3HYPDH
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-03
L3HYPDH BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3HYPDH
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L3MBTL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 12 ClinVar 2020-12-08
L3MBTL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3MBTL1
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 2 LOVD 3.X 2020-07-16
L3MBTL1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L3MBTL1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
L3MBTL1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3MBTL1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-22
L3MBTL1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3MBTL1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L3MBTL1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-11
L3MBTL1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L3MBTL1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L3MBTL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL2[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 28 ClinVar 2021-10-02
L3MBTL2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3MBTL2
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 2 LOVD 3.X 2021-02-08
L3MBTL2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L3MBTL2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L3MBTL2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L3MBTL2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
L3MBTL2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3MBTL2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
L3MBTL2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3MBTL2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-06
L3MBTL2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL2
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-10
L3MBTL2-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL2-AS1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 26 ClinVar 2021-10-02
L3MBTL3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL3[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 19 ClinVar 2021-10-02
L3MBTL3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3MBTL3
Global Variome, with Curator vacancy
Database manager
Rating: 2