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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150705 entries on 1508 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 2019-01-14
A1BG Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A1BG		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
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 2018-12-19
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 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 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A1CF		 Admin
BRAINN		 - - LOVD 3.X 2018-12-09
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 2019-05-03
A2LD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A2LD1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
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 Unknown
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 2018-12-15
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 2019-05-03
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 2018-10-05
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 2018-11-21
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 2018-12-15
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 2018-05-23
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 2018-12-15
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 2019-09-02
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 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
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 2018-10-05
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 2018-12-17
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
Not curated, does not accept submissions
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]
- - 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 Unknown
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 2018-12-08
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 2019-05-03
A4GALT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A4GALT		 Admin
BRAINN		 - - LOVD 3.X 2019-01-16
A4GNT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/A4GNT		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-04-10
A4GNT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/A4GNT		 Admin
BRAINN		 - - LOVD 3.X 2018-11-16
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 2018-10-12
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 2019-05-03
AAAS BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/AAAS		 Admin
BRAINN		 - - LOVD 3.X 2018-12-17
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
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 2019-09-02
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 2018-12-17
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 Unknown
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 2018-11-16
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 2019-05-03
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 2018-10-12
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 2018-11-16
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 2018-11-28
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 2018-11-16
AADACL2-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=AADACL2-AS1[gene]
- - ClinVar 2019-02-25
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 2018-10-12
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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