Locus Specific Mutation Databases

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

  Please select the first letter of the Gene:
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Or, specify the HGNC Gene Symbol:

 Supported by:
Genome Scan, Next Generation Sequencing Services
113548 entries on 1136 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
- X-chromosome gene database
http://grenada.lumc.nl/LOVD2/MR/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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/A1CF		 Admin
BRAINN		 - - LOVD 3.X 2018-10-04
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A1CF		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2M		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2M		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
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
A2M-AS1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2M-AS1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2ML1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
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
A2ML1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2ML1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
A2MP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2MP1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-11-03
A2MP1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2MP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
A2MP1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/A2MP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A2MP1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2MP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
A3GALT2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A3GALT2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
A3GALT2 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A3GALT2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-18
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 - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/A4GNT		 Admin
BRAINN		 - - LOVD 3.X 2018-10-12
A4GNT BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A4GNT		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AACS		 Admin
BRAINN		 - - LOVD 3.X 2018-10-14
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 - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AACSP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-12
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 - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/AADAC		 Admin
BRAINN		 - - LOVD 3.X 2018-10-12
AADAC BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AADAC		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
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 - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AADACL2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-17
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 - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/AADACL2-AS1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-12
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AADACL3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-17
AADACL3 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/AADACL3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-18
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 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/AADACL4		 Admin
BRAINN		 - - LOVD 3.X 2018-10-18
AADACL4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADACL4[gene]
- - Other 2014-03-07
AADACP1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/AADACP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-12
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AADAT		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
AADAT BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/AADAT		 Admin
BRAINN		 - - LOVD 3.X 2018-10-14
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
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