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:
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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
151369 entries on 1514 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
A-GAMMA3'E ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A-GAMMA3'E[gene]
- - ClinVar 2019-02-25
A1BG BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A1BG		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A1BG Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A1BG		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-04
A1BG LOVD - Leiden Open Variation Database
Not curated, 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]
- - ClinVar 2019-03-05
A1BG-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A1BG-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A1BG-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A1BG-AS1[gene]
- - ClinVar 2019-02-25
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
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A1BG-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A1CF BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A1CF		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A1CF		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A1CF LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A1CF		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A1CF BIPMed SNP Array - HG19
Not curated, does not accept submissions
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]
- - ClinVar 2020-01-06
A2LD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2LD1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-06
A2M Iran Variation Database
Not curated, 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 2019-12-04
A2M BIPMed SNP Array - HG19
Not curated, does not accept submissions
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
Not curated, 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 WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A2M		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A2M BIPMed SNP Array
Not curated, does not accept submissions
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]
- - ClinVar 2020-01-06
A2M BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2M		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A2M-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A2M-AS1[gene]
- - ClinVar 2019-02-25
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 - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2M-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A2M-AS1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A2M-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A2M-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A2M-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A2M-AS1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2M-AS1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
A2ML1 Iran Variation Database
Not curated, 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 2019-12-06
A2ML1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2ML1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
A2ML1 LOVD - Leiden Open Variation Database
Not curated, 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 WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A2ML1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A2ML1 BIPMed SNP Array
Not curated, does not accept submissions
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]
- - ClinVar 2020-02-03
A2ML1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2ML1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A2MP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
A2MP1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A2MP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A2MP1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A2MP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A3GALT2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A3GALT2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A3GALT2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A3GALT2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A3GALT2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A3GALT2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-04
A3GALT2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A3GALT2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A3GALT2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=A3GALT2[gene]
- - ClinVar 2019-08-05
A3GALT2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A3GALT2		 Admin
BRAINN		 - - LOVD 3.X 2018-11-23
A4GALT Iran Variation Database
Not curated, 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 2019-12-04
A4GALT LOVD - Leiden Open Variation Database
Not curated, 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 - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A4GALT		 Admin
BRAINN		 - - LOVD 3.X 2018-11-13
A4GALT BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A4GALT		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A4GALT BIPMed SNP Array
Not curated, does not accept submissions
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]
- - ClinVar 2020-01-06
A4GALT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A4GALT		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A4GNT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A4GNT		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-19
A4GNT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A4GNT		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A4GNT BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/A4GNT		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
A4GNT BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/A4GNT		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
A4GNT BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/A4GNT		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
A4GNT LOVD - Leiden Open Variation Database
Not curated, 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]
- - ClinVar 2020-01-06
AAAS BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/AAAS		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
AAAS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/AAAS		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-06
AAAS LOVD - Leiden Open Variation Database
Not curated, 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]
- - ClinVar 2020-02-03
AACS Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/AACS		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
AACS BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/AACS		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
AACS BIPMed SNP Array - HG19
Not curated, does not accept submissions
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 2019-12-04
AACS LOVD - Leiden Open Variation Database
Not curated, 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 - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/AACS		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
AACS BIPMed SNP Array
Not curated, does not accept submissions
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]
- - ClinVar 2020-01-06
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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AACSP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-12
AACSP1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/AACSP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AACSP1 LOVD - Leiden Open Variation Database
Not curated, 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 2018-12-07
AADAC BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/AADAC		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
AADAC BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AADAC		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
AADAC BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/AADAC		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AADAC LOVD - Leiden Open Variation Database
Not curated, 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]
- - ClinVar 2019-03-05
AADAC BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/AADAC		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
AADACL2 Iran Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/AADACL2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-17
AADACL2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/AADACL2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
AADACL2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/AADACL2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
AADACL2 LOVD - Leiden Open Variation Database
Not curated, 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]
- - ClinVar 2019-03-05
AADACL2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/AADACL2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
AADACL2-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADACL2-AS1[gene]
- - ClinVar 2020-01-06
AADACL2-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/AADACL2-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
AADACL2-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/AADACL2-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
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