Locus Specific Mutation Databases

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Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
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777 entries on 8 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
WAC Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WAC
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-05-23
WAC ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WAC[gene]

- - Other 2014-03-07
WAC LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WAC
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
WAC BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WAC
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WAC-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WAC-AS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WAC-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WAC-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WAPAL Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WAPAL
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WAPAL ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WAPAL[gene]

- - Other 2014-03-07
WAPAL LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WAPAL
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
WARS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WARS
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WARS ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WARS[gene]

- - Other 2014-03-07
WARS Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/WARS
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
WARS BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WARS
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WARS LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WARS
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
WARS2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WARS2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-09-08
WARS2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WARS2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
WARS2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WARS2[gene]

- - Other 2014-03-07
WARS2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/WARS2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-14
WARS2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WARS2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WARS2-IT1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WARS2-IT1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WAS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WAS
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-12-01
WAS WASbase: Variation registry for Wiskott-Aldrich syndrome (WAS)
http://structure.bmc.lu.se/idbase/WASbase/
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
- - MUTbase Unknown
WAS ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WAS[gene]

- - Other 2014-09-01
WAS Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/WAS
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
WAS **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=WAS
Ammar Husami
Cincinnati Children's Hospital Medical Center
- - LOVD 2.X 2010-04-23
WASF1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WASF1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-07-23
WASF1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WASF1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
WASF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WASF1[gene]

- - Other 2014-03-07
WASF1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WASF1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WASF2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WASF2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
WASF2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WASF2[gene]

- - Other 2014-06-02
WASF2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/WASF2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
WASF3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WASF3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WASF3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WASF3[gene]

- - Other 2014-06-02
WASF3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/WASF3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
WASF3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WASF3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WASF3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WASF3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
WASH1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WASH1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WASH2P Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WASH2P
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WASH3P Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WASH3P
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WASH5P Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WASH5P
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WASH7P Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WASH7P
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WASIR2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WASIR2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WASL Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WASL
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WASL LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WASL
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
WASL ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WASL[gene]

- - Other 2014-03-07
WASL Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/WASL
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
WASL BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WASL
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WBP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBP1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WBP1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WBP1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
WBP1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/WBP1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
WBP11 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBP11
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WBP11 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBP11[gene]

- - Other 2014-09-01
WBP11 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/WBP11
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
WBP11 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WBP11
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WBP11P1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WBP11P1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
WBP11P1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBP11P1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WBP1L ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBP1L[gene]

- - Other 2014-03-07
WBP1L BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WBP1L
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WBP2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WBP2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBP2[gene]

- - Other 2014-06-02
WBP2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WBP2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WBP2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WBP2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
WBP2NL LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WBP2NL
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-10
WBP2NL Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBP2NL
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
WBP2NL ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBP2NL[gene]

- - Other 2014-03-07
WBP2NL PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
WBP2NL BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WBP2NL
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WBP4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBP4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WBP4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBP4[gene]

- - Other 2014-03-07
WBP4 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WBP4
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WBP5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBP5
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WBP5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBP5[gene]

- - Other 2014-09-01
WBP5 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/WBP5
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
WBSCR16 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBSCR16
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WBSCR16 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WBSCR16
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
WBSCR16 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBSCR16[gene]

- - Other 2014-03-07
WBSCR17 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBSCR17
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
WBSCR17 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WBSCR17
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
WBSCR17 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
WBSCR17 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBSCR17[gene]

- - Other 2014-06-02
WBSCR17 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WBSCR17
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WBSCR22 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBSCR22
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WBSCR22 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WBSCR22
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
WBSCR22 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBSCR22[gene]

- - Other 2014-09-01
WBSCR27 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBSCR27
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WBSCR27 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WBSCR27
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
WBSCR27 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBSCR27[gene]

- - Other 2014-09-01
WBSCR28 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WBSCR28
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WBSCR28 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WBSCR28
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
WBSCR28 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WBSCR28[gene]

- - Other 2014-09-01
WBSCR28 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WBSCR28
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WDFY1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/WDFY1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
WDFY1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WDFY1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WDFY1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WDFY1[gene]

- - Other 2014-03-07
WDFY1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WDFY1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
WDFY2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/WDFY2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
WDFY2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=WDFY2[gene]

- - Other 2014-03-07
WDFY2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/WDFY2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
WDFY2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/WDFY2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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