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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 Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
87881 entries on 879 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
- LOVD - IARC
http://brca.iarc.fr/LOVD/home.php?select_db=
- - LOVD 2.X Unknown
A1BG Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A1BG		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2017-09-01
A1BG LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A1BG		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
A1BG ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A1BG[gene]
- - Other 2014-03-07
A1BG-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A1BG-AS1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
A1BG-AS1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A1BG-AS1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
A1BG-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/A1BG-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A1CF Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A1CF		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2016-10-18
A1CF LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A1CF		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
A1CF BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/A1CF		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A1CF ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A1CF[gene]
- - Other 2014-04-03
A2LD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2LD1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2015-10-24
A2M Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/A2M		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
A2M Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2M		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
A2M PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
A2M LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A2M		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
A2M BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/A2M		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A2M ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A2M[gene]
- - Other 2014-09-01
A2M-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2M-AS1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
A2M-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/A2M-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A2ML1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/A2ML1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
A2ML1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2ML1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-05-23
A2ML1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A2ML1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
A2ML1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/A2ML1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A2ML1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A2ML1[gene]
- - Other 2014-09-01
A2MP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2MP1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
A2MP1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/A2MP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A3GALT2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A3GALT2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
A3GALT2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A3GALT2[gene]
- - Other 2014-03-07
A4GALT Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/A4GALT		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
A4GALT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A4GALT		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
A4GALT LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A4GALT		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-10
A4GALT BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/A4GALT		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A4GALT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A4GALT[gene]
- - Other 2014-03-07
A4GNT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A4GNT		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
A4GNT BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/A4GNT		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A4GNT LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/A4GNT		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
A4GNT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A4GNT[gene]
- - Other 2014-03-07
AAAS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AAAS		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2016-07-21
AAAS LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAAS		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
AAAS ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AAAS[gene]
- - Other 2014-06-02
AACS Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/AACS		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
AACS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AACS		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AACS LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AACS		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
AACS BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AACS		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AACS ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AACS[gene]
- - Other 2014-06-02
AACSP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AACSP1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AACSP1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AACSP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AACSP1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AACSP1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-15
AADAC Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AADAC		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AADAC BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AADAC		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AADAC LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AADAC		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
AADAC ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADAC[gene]
- - Other 2014-03-07
AADACL2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/AADACL2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
AADACL2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AADACL2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AADACL2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AADACL2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AADACL2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AADACL2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
AADACL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADACL2[gene]
- - Other 2014-03-07
AADACL2-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADACL2-AS1[gene]
- - Other 2014-08-07
AADACL2-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AADACL2-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AADACL3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AADACL3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AADACL3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AADACL3		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
AADACL3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADACL3[gene]
- - Other 2014-03-07
AADACL4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AADACL4		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AADACL4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADACL4[gene]
- - Other 2014-03-07
AADACP1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AADACP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AADAT Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/AADAT		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
AADAT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AADAT		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AADAT LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AADAT		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
AADAT BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AADAT		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AADAT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADAT[gene]
- - Other 2014-03-07
AAED1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AAED1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AAED1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAED1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-12
AAED1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AAED1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AAED1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AAED1[gene]
- - Other 2014-09-01
AAGAB Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/AAGAB		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
AAGAB LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAGAB		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-12
AAGAB Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AAGAB		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AAGAB BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AAGAB		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AAGAB ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AAGAB[gene]
- - Other 2014-03-07
AAK1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/AAK1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
AAK1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AAK1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2015-10-24
AAK1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAK1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
AAK1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AAK1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AAK1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AAK1[gene]
- - Other 2014-03-07
AAMDC Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AAMDC		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AAMDC LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAMDC		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
AAMDC BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AAMDC		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AAMDC ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AAMDC[gene]
- - Other 2014-03-07
AAMP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AAMP		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AAMP LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AAMP		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
AAMP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AAMP[gene]
- - Other 2014-03-07
AANAT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AANAT		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AANAT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AANAT[gene]
- - Other 2014-03-07
AAR2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/AAR2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
AAR2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AAR2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
AAR2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/AAR2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AAR2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AAR2[gene]
- - Other 2014-03-07
AARD Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/AARD		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
AARD Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AARD		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
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