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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14907 entries on 150 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
S100A1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-29
S100A1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
S100A1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A1[gene]
- - ClinVar 2020-01-06
S100A1 VitiVar - Compendium of genes and variants associated with vitiligo
http://vitivar.igib.res.in/genes/S100A1		 Ankita
CSIR-IGIB		 - - LOVD 3.X 2015-09-03
S100A10 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A10		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A10 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A10		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A10 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A10		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A10 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A10		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A10 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A10		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A10 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A10[gene]
- - ClinVar 2019-10-01
S100A10 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/S100A10		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-13
S100A11 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A11		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A11 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A11		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A11 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A11		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A11 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A11		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A11 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A11		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A11 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A11[gene]
- - ClinVar 2019-10-01
S100A12 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A12		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A12 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A12		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A12 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A12		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A12 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A12		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A12 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A12		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A12 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A12[gene]
- - ClinVar 2020-01-06
S100A13 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A13		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A13 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A13		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A13 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A13		 Admin
BRAINN		 - - LOVD 3.X 2018-11-29
S100A13 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A13		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A13 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A13		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A13 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A13		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
S100A13 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A13[gene]
- - ClinVar 2020-01-06
S100A14 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A14		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A14 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A14		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A14 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A14		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
S100A14 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A14[gene]
- - ClinVar 2019-10-01
S100A16 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A16		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A16 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A16		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A16 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A16[gene]
- - ClinVar 2019-10-01
S100A2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-02
S100A2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A2		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A2[gene]
- - ClinVar 2020-01-06
S100A3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-20
S100A3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A3[gene]
- - ClinVar 2019-10-01
S100A4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A4 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A4		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A4 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A4		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A4 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A4		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A4 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A4		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-03
S100A4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A4[gene]
- - ClinVar 2020-01-06
S100A5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A5 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A5		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A5		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A5 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A5		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A5[gene]
- - ClinVar 2019-10-01
S100A6 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A6		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A6 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A6		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A6[gene]
- - ClinVar 2020-01-06
S100A7 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A7		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A7 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/S100A7		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
S100A7 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A7		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A7 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A7		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A7 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A7		 Admin
BRAINN		 - - LOVD 3.X 2018-11-12
S100A7 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A7[gene]
- - ClinVar 2019-10-01
S100A7 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A7		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A7A BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A7A		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A7A BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A7A		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A7A BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A7A		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A7A BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A7A		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A7A Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A7A		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A7A ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A7A[gene]
- - ClinVar 2019-10-01
S100A7L2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A7L2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A7L2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A7L2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A7L2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A7L2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
S100A8 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A8		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A8 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100A8		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100A8 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100A8		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
S100A8 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100A8		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A8 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A8		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A8 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100A8		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
S100A8 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A8[gene]
- - ClinVar 2019-10-01
S100A9 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100A9		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100A9 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100A9		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100A9 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100A9[gene]
- - ClinVar 2020-01-06
S100B BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/S100B		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100B LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/S100B		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
S100B BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/S100B		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
S100B BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/S100B		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
S100B Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/S100B		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
S100B BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/S100B		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
S100B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=S100B[gene]
- - ClinVar 2019-10-01
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