Locus Specific Mutation Databases

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3484 entries on 35 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
G0S2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/G0S2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
G0S2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=G0S2[gene]

- - Other 2014-03-07
G0S2 Shared database
https://databases.lovd.nl/shared/genes/G0S2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
G2E3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/G2E3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
G2E3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=G2E3[gene]

- - Other 2014-03-07
G2E3 Shared database
https://databases.lovd.nl/shared/genes/G2E3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
G2E3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/G2E3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
G3BP1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/G3BP1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
G3BP1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=G3BP1[gene]

- - Other 2014-03-07
G3BP1 Shared database
https://databases.lovd.nl/shared/genes/G3BP1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
G3BP2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/G3BP2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
G3BP2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/G3BP2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
G3BP2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=G3BP2[gene]

- - Other 2014-03-07
G3BP2 Shared database
https://databases.lovd.nl/shared/genes/G3BP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
G6PC Shared database
https://databases.lovd.nl/shared/genes/G6PC
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
G6PC BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/G6PC
Admin
BRAINN
- - LOVD 3.X 2017-10-26
G6PC Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=G6PC
LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL
- - LOVD 2.X 2013-01-05
G6PC ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=G6PC[gene]

- - Other 2014-09-01
G6PC LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/G6PC
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
G6PC2 Shared database
https://databases.lovd.nl/shared/genes/G6PC2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
G6PC2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/G6PC2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
G6PC2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/G6PC2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
G6PC2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=G6PC2[gene]

- - Other 2014-03-07
G6PC3 Shared database
https://databases.lovd.nl/shared/genes/G6PC3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-01-28
G6PC3 G6PC3base: Variation registry for severe congenital neutropenia
http://structure.bmc.lu.se/idbase/G6PC3base/
Mauno Vihinen
Dept. of Experimental Medical Science, Lund University
- - MUTbase 2013-04-08
G6PC3 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=G6PC3
Ammar Husami
Cincinnati Children's Hospital Medical Center
- - LOVD 2.X 2014-05-02
G6PC3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=G6PC3[gene]

- - Other 2014-03-07
G6PC3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/G6PC3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
G6PD Shared database
https://databases.lovd.nl/shared/genes/G6PD
Ettore Capoluongo
Biochemistry and CLinical Biochemistry
- - LOVD 3.X 2016-12-16
G6PD BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/G6PD
Admin
BRAINN
- - LOVD 3.X 2017-10-26
G6PD LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/G6PD
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
G6PD **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=G6PD
Ammar Husami
Cincinnati Children's Hospital Medical Center
- - LOVD 2.X 2014-05-01
G6PD Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/G6PD
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
G6PD G6PD Mutations
http://www.bioinf.org.uk/g6pd/
Andrew C.R. Martin, Colin Kwok
University College London, UK
- - Other Unknown
G6PD ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=G6PD[gene]

- - Other 2014-11-02
G6PD  
http://db.cshg.org.cy/genes/G6PD
Savvas Nikolaou & Carsten W Lederer & Anastasia Raoukka
The Cyprus Institute of Neurology and Genetics
The Cyprus Society of Human Genetics; The Cyprus Institute of Neurology and Genetics
The Cyprus Institute of Neurology & Genetics
- - LOVD 3.X 2017-09-20
G6PD PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
GAA BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GAA
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GAA Shared database
https://databases.lovd.nl/shared/genes/GAA
Marianne Hoogeveen-Westerveld & Pim Pijnappel
Erasmus MC
- - LOVD 3.X 2017-10-24
GAA Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/GAA
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
GAA ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GAA[gene]

- - Other 2014-06-02
GAA **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=GAA
Ammar Husami
Cincinnati Children's Hospital Medical Center
- - LOVD 2.X 2010-05-05
GAA LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GAA
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
GAB1 Shared database
https://databases.lovd.nl/shared/genes/GAB1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GAB1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GAB1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GAB1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/GAB1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
GAB1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GAB1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
GAB1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GAB1[gene]

- - Other 2014-03-07
GAB2 Shared database
https://databases.lovd.nl/shared/genes/GAB2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GAB2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GAB2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GAB2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/GAB2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
GAB2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GAB2[gene]

- - Other 2014-04-03
GAB3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GAB3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GAB3 X-chromosome gene database
http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GAB3
LOVD-team, but with Curator vacancy
LUMC, Leiden, Nederland
- - LOVD 2.X 2010-10-24
GAB3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GAB3[gene]

- - Other 2014-09-01
GAB3 Shared database
https://databases.lovd.nl/shared/genes/GAB3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-12-16
GAB4 Shared database
https://databases.lovd.nl/shared/genes/GAB4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GAB4 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GAB4
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GAB4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GAB4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-10
GAB4 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/GAB4
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
GAB4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GAB4[gene]

- - Other 2014-06-02
GABARAP Shared database
https://databases.lovd.nl/shared/genes/GABARAP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABARAP BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABARAP
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABARAP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GABARAP[gene]

- - Other 2014-06-02
GABARAPL1 Shared database
https://databases.lovd.nl/shared/genes/GABARAPL1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABARAPL1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABARAPL1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABARAPL1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/GABARAPL1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
GABARAPL1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABARAPL1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
GABARAPL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GABARAPL1[gene]

- - Other 2014-09-01
GABARAPL2 Shared database
https://databases.lovd.nl/shared/genes/GABARAPL2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABARAPL2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABARAPL2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABARAPL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GABARAPL2[gene]

- - Other 2014-03-07
GABARAPL3 Shared database
https://databases.lovd.nl/shared/genes/GABARAPL3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABARAPL3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABARAPL3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABARAPL3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABARAPL3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
GABBR1 Shared database
https://databases.lovd.nl/shared/genes/GABBR1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABBR1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABBR1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABBR1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABBR1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
GABBR1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/GABBR1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
GABBR1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GABBR1[gene]

- - Other 2014-03-07
GABBR2 Shared database
https://databases.lovd.nl/shared/genes/GABBR2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABBR2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABBR2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABBR2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/GABBR2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-13
GABBR2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABBR2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
GABBR2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GABBR2[gene]

- - Other 2014-09-01
GABPA Shared database
https://databases.lovd.nl/shared/genes/GABPA
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABPA BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABPA
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABPA ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GABPA[gene]

- - Other 2014-09-01
GABPB1 Shared database
https://databases.lovd.nl/shared/genes/GABPB1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABPB1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABPB1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABPB1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GABPB1[gene]

- - Other 2014-03-07
GABPB1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABPB1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
GABPB1-AS1 Shared database
https://databases.lovd.nl/shared/genes/GABPB1-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABPB1-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABPB1-AS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABPB2 Shared database
https://databases.lovd.nl/shared/genes/GABPB2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABPB2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABPB2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABPB2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=GABPB2[gene]

- - Other 2014-03-07
GABRA1 Shared database
https://databases.lovd.nl/shared/genes/GABRA1
Bernt Popp
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg
- - LOVD 3.X 2016-07-21
GABRA1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/GABRA1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
GABRA1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABRA1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
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