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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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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2704 entries on 28 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
B2M BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B2M		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B2M BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B2M		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
B2M BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B2M		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B2M ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B2M[gene]
- - ClinVar 2020-01-06
B2M BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B2M		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B2M Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B2M		 Dorota Rowczenio
University College London		 - - LOVD 3.X 2014-09-24
B3GALNT1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GALNT1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
B3GALNT1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GALNT1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GALNT1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GALNT1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALNT1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GALNT1[gene]
- - ClinVar 2019-08-05
B3GALNT1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GALNT1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALNT1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B3GALNT1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
B3GALNT1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GALNT1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
B3GALNT2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GALNT2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALNT2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GALNT2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
B3GALNT2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GALNT2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALNT2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B3GALNT2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-26
B3GALNT2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GALNT2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GALNT2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/B3GALNT2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
B3GALNT2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GALNT2[gene]
- - ClinVar 2020-01-06
B3GALNT2 The Genetic Eye Disorder (GEDI) Variation Database
http://mseqdr.lumc.edu/GEDI/genes/B3GALNT2		 Lishuang Shen
MEEI		 - - LOVD 3.X 2013-11-19
B3GALNT2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GALNT2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-09-30
B3GALT1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GALT1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
B3GALT1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B3GALT1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
B3GALT1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GALT1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GALT1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GALT1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALT1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GALT1[gene]
- - ClinVar 2019-10-01
B3GALT1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GALT1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALT1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GALT1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
B3GALT1-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GALT1-AS1[gene]
- - ClinVar 2019-07-31
B3GALT2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GALT2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALT2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B3GALT2		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
B3GALT2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GALT2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALT2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GALT2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GALT2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GALT2[gene]
- - ClinVar 2019-10-01
B3GALT2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GALT2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
B3GALT4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GALT4[gene]
- - ClinVar 2019-09-02
B3GALT4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GALT4		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
B3GALT5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GALT5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALT5 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GALT5		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-10
B3GALT5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B3GALT5		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
B3GALT5 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GALT5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALT5 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GALT5		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GALT5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GALT5[gene]
- - ClinVar 2019-10-01
B3GALT5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GALT5		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
B3GALT5-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GALT5-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALT5-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GALT5-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GALT5-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GALT5-AS1[gene]
- - ClinVar 2019-03-05
B3GALT6 Ehlers Danlos Syndrome Variant Database
https://eds.gene.le.ac.uk/home.php?select_db=B3GALT6		 Raymond Dalgleish
University of Leicester		 - - LOVD 2.X 2019-08-27
B3GALT6 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/B3GALT6		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
B3GALT6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GALT6[gene]
- - ClinVar 2020-01-06
B3GALT6 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GALT6		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GALT6 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GALT6		 Cynthia Silveira
UNICAMP		 - - LOVD 3.X 2019-04-28
B3GALTL LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GALTL		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-12
B3GAT1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GAT1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GAT1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GAT1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GAT1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GAT1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GAT1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GAT1[gene]
- - ClinVar 2020-01-06
B3GAT1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B3GAT1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-22
B3GAT1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GAT1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
B3GAT2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B3GAT2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
B3GAT2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GAT2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GAT2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GAT2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GAT2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GAT2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GAT2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GAT2[gene]
- - ClinVar 2019-10-01
B3GAT2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GAT2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
B3GAT3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GAT3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GAT3 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GAT3		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
B3GAT3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GAT3[gene]
- - ClinVar 2020-01-06
B3GAT3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GAT3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-05-24
B3GLCT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GLCT		 Martine van Belzen & Johan den Dunnen
LUMC
private		 - - LOVD 3.X 2019-06-28
B3GLCT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GLCT[gene]
- - ClinVar 2020-01-06
B3GNT1 The Genetic Eye Disorder (GEDI) Variation Database
http://mseqdr.lumc.edu/GEDI/genes/B3GNT1		 Lishuang Shen
MEEI		 - - LOVD 3.X 2013-11-19
B3GNT1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GNT1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-01-19
B3GNT2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GNT2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GNT2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GNT2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GNT2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GNT2[gene]
- - ClinVar 2020-01-06
B3GNT2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B3GNT2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
B3GNT2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GNT2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
B3GNT3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GNT3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GNT3 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GNT3		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
B3GNT3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GNT3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GNT3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GNT3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GNT3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GNT3[gene]
- - ClinVar 2020-01-06
B3GNT3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B3GNT3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
B3GNT3 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/B3GNT3		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
B3GNT3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GNT3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
B3GNT4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GNT4		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-10-05
B3GNT4 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GNT4		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
B3GNT4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GNT4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GNT4 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/B3GNT4		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
B3GNT4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GNT4[gene]
- - ClinVar 2020-01-06
B3GNT5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/B3GNT5		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
B3GNT5 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GNT5		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
B3GNT5 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/B3GNT5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GNT5 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/B3GNT5		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
B3GNT5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/B3GNT5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
B3GNT5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=B3GNT5[gene]
- - ClinVar 2019-03-05
B3GNT5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/B3GNT5		 Admin
BRAINN		 - - LOVD 3.X 2018-10-14
B3GNT5 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/B3GNT5		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
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