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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69590 entries on 696 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 Shared database
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 Shared database
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
A1CF Shared database
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 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A1CF[gene]

- - Other 2014-04-03
A2LD1 Shared database
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 Shared database
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 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A2M[gene]

- - Other 2014-09-01
A2M-AS1 Shared database
https://databases.lovd.nl/shared/genes/A2M-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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 Shared database
https://databases.lovd.nl/shared/genes/A2ML1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2014-06-22
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 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A2ML1[gene]

- - Other 2014-09-01
A2MP1 Shared database
https://databases.lovd.nl/shared/genes/A2MP1
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 Shared database
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 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A4GALT[gene]

- - Other 2014-03-07
A4GNT Shared database
https://databases.lovd.nl/shared/genes/A4GNT
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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 Shared database
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 Shared database
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 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AACS[gene]

- - Other 2014-06-02
AACSP1 Shared database
https://databases.lovd.nl/shared/genes/AACSP1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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 Shared database
https://databases.lovd.nl/shared/genes/AADAC
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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 Shared database
https://databases.lovd.nl/shared/genes/AADACL2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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
AADACL3 Shared database
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 Shared database
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
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 Shared database
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 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADAT[gene]

- - Other 2014-03-07
AAED1 Shared database
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 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 Shared database
https://databases.lovd.nl/shared/genes/AAGAB
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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 Shared database
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 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AAK1[gene]

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

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

- - Other 2014-03-07
AARS Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/AARS
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
AARS LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AARS
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
AARS Shared database
https://databases.lovd.nl/shared/genes/AARS
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-09-04
AARS ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AARS[gene]

- - Other 2014-11-02
AARS2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AARS2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
AARS2 Shared database
https://databases.lovd.nl/shared/genes/AARS2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-04-28
AARS2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AARS2[gene]

- - Other 2014-09-01
AARSD1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AARSD1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
AARSD1 Shared database
https://databases.lovd.nl/shared/genes/AARSD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
AARSD1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AARSD1[gene]

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

- - Other 2014-03-07
AASDH LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AASDH
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
AASDHPPT Shared database
https://databases.lovd.nl/shared/genes/AASDHPPT
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
AASDHPPT LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/AASDHPPT
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
AASDHPPT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AASDHPPT[gene]

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

- - Other 2014-03-07
AATF Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/AATF
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
AATF Shared database
https://databases.lovd.nl/shared/genes/AATF
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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