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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2483 entries on 25 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
http://ncbi.nlm.nih.gov/clinvar/?term=G0S2[gene]

- - Other 2014-03-07
G0S2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/G0S2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
G2E3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=G2E3[gene]

- - Other 2014-03-07
G2E3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/G2E3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
G3BP1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=G3BP1[gene]

- - Other 2014-03-07
G3BP1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/G3BP1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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
http://ncbi.nlm.nih.gov/clinvar/?term=G3BP2[gene]

- - Other 2014-03-07
G3BP2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/G3BP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
G6PC LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/G6PC
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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
http://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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/G6PC2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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
http://ncbi.nlm.nih.gov/clinvar/?term=G6PC2[gene]

- - Other 2014-03-07
G6PC3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/G6PC3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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
http://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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/G6PD
Ettore Capoluongo
Biochemistry and CLinical Biochemistry
- - LOVD 3.X 2014-01-24
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 G6PD Mutations
http://www.bioinf.org.uk/g6pd/
Andrew C.R. Martin, Colin Kwok
University College London, UK
- - Other Unknown
G6PD MyHVP - Human Variome Project Malaysia Database
http://hvpmalaysia.kk.usm.my/mhgvc/index.php?id=login/genes/G6PD
Abdul Halim Fikri Bin Hashim
Universiti Sains Malaysia
- - LOVD 3.X 2014-02-11
G6PD ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=G6PD[gene]

- - Other 2014-11-02
G6PD Pharmacogenomics of Infectious Diseases (PGx_IfD )
http://genome.igib.res.in/PGx/home.php?select_db=G6PD

- - LOVD 2.X Unknown
GAA LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GAA
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2012-04-16
GAA LOVD - Leiden Open Variation Database
http://chromium.liacs.nl/LOVD2/home.php?select_db=GAA
Marian Kroos & Arnold Reuser & Johan den Dunnen
Pompe Center, EUR, Rotterdam, Nederland
Clinical Genetics, Erasmus MC, Rooterdam, Nederland
home
- - LOVD 2.X 2013-07-28
GAA ClinVar at NCBI
http://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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GAB1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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
http://ncbi.nlm.nih.gov/clinvar/?term=GAB1[gene]

- - Other 2014-03-07
GAB2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GAB2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GAB2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GAB2[gene]

- - Other 2014-04-03
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
http://ncbi.nlm.nih.gov/clinvar/?term=GAB3[gene]

- - Other 2014-09-01
GAB3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GAB3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GAB4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GAB4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GAB4[gene]

- - Other 2014-06-02
GABARAP LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABARAP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABARAP ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABARAP[gene]

- - Other 2014-06-02
GABARAPL1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABARAPL1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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
http://ncbi.nlm.nih.gov/clinvar/?term=GABARAPL1[gene]

- - Other 2014-09-01
GABARAPL2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABARAPL2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABARAPL2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABARAPL2[gene]

- - Other 2014-03-07
GABARAPL3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABARAPL3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABBR1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABBR1[gene]

- - Other 2014-03-07
GABBR2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABBR2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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
http://ncbi.nlm.nih.gov/clinvar/?term=GABBR2[gene]

- - Other 2014-09-01
GABPA LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABPA
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABPA ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABPA[gene]

- - Other 2014-09-01
GABPB1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABPB1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABPB1 ClinVar at NCBI
http://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 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABPB1-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABPB2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABPB2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABPB2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABPB2[gene]

- - Other 2014-03-07
GABRA1 Melbourne Genomics Health Alliance Variant Database
http://mgha.endovl.org.au/genes/GABRA1
John-Paul Plazzer
The Royal Melbourne Hospital
- - LOVD 3.X 2014-03-06
GABRA1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABRA1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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
GABRA1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABRA1[gene]

- - Other 2014-08-07
GABRA2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABRA2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABRA2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABRA2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
GABRA2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABRA2[gene]

- - Other 2014-04-03
GABRA3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABRA3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
GABRA3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABRA3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABRA3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABRA3[gene]

- - Other 2014-09-01
GABRA4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABRA4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABRA4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABRA4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
GABRA4 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABRA4[gene]

- - Other 2014-04-03
GABRA5 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABRA5
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABRA5 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABRA5[gene]

- - Other 2014-09-01
GABRA5 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABRA5
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
GABRA6 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABRA6
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABRA6 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABRA6
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
GABRA6 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABRA6[gene]

- - Other 2014-06-02
GABRB1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABRB1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABRB1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABRB1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
GABRB1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABRB1[gene]

- - Other 2014-06-02
GABRB2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABRB2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABRB2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABRB2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
GABRB2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABRB2[gene]

- - Other 2014-06-02
GABRB3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABRB3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABRB3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABRB3[gene]

- - Other 2014-09-01
GABRD LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/GABRD
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
GABRD LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABRD
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
GABRD ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=GABRD[gene]

- - Other 2014-09-01
GABRE X-chromosome gene database
http://grenada.lumc.nl/LOVD2/MR/home.php?select_db=GABRE
LOVD-team, but with Curator vacancy
LUMC, Leiden, Nederland
- - LOVD 2.X 2010-10-24
GABRE LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/GABRE
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
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