Locus Specific Mutation Databases

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1781 entries on 18 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
E2F1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F1[gene]

- - Other 2014-03-07
E2F1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
E2F1 Shared database
https://databases.lovd.nl/shared/genes/E2F1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
E2F2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/E2F2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
E2F2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
E2F2 Shared database
https://databases.lovd.nl/shared/genes/E2F2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
E2F3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F3[gene]

- - Other 2014-03-07
E2F3 Shared database
https://databases.lovd.nl/shared/genes/E2F3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
E2F4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-03
E2F4 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/E2F4
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
E2F4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F4[gene]

- - Other 2014-06-02
E2F4 Shared database
https://databases.lovd.nl/shared/genes/E2F4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
E2F5 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F5
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
E2F5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F5[gene]

- - Other 2014-03-07
E2F5 Shared database
https://databases.lovd.nl/shared/genes/E2F5
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
E2F6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F6[gene]

- - Other 2014-03-07
E2F6 Shared database
https://databases.lovd.nl/shared/genes/E2F6
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
E2F7 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F7
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
E2F7 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
E2F7 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F7[gene]

- - Other 2014-03-07
E2F7 Shared database
https://databases.lovd.nl/shared/genes/E2F7
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
E2F8 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/E2F8
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
E2F8 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E2F8[gene]

- - Other 2014-03-07
E2F8 Shared database
https://databases.lovd.nl/shared/genes/E2F8
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
E4F1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/E4F1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
E4F1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=E4F1[gene]

- - Other 2014-03-07
E4F1 Shared database
https://databases.lovd.nl/shared/genes/E4F1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EAF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EAF1[gene]

- - Other 2014-03-07
EAF1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/EAF1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
EAF1 Shared database
https://databases.lovd.nl/shared/genes/EAF1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EAF2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EAF2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
EAF2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EAF2[gene]

- - Other 2014-03-07
EAF2 Shared database
https://databases.lovd.nl/shared/genes/EAF2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EAPP LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EAPP
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
EAPP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EAPP[gene]

- - Other 2014-03-07
EAPP Shared database
https://databases.lovd.nl/shared/genes/EAPP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EARS2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EARS2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
EARS2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EARS2[gene]

- - Other 2014-08-07
EARS2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/EARS2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
EARS2 Shared database
https://databases.lovd.nl/shared/genes/EARS2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-04-02
EBAG9 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EBAG9
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
EBAG9 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBAG9[gene]

- - Other 2014-03-07
EBAG9 Shared database
https://databases.lovd.nl/shared/genes/EBAG9
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EBF1 Shared database
https://databases.lovd.nl/shared/genes/EBF1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
EBF1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EBF1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
EBF1 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
EBF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBF1[gene]

- - Other 2014-06-02
EBF1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/EBF1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
EBF2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EBF2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
EBF2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBF2[gene]

- - Other 2014-04-03
EBF2 Shared database
https://databases.lovd.nl/shared/genes/EBF2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EBF3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EBF3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
EBF3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBF3[gene]

- - Other 2014-04-03
EBF3 Shared database
https://databases.lovd.nl/shared/genes/EBF3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-06-11
EBF4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBF4[gene]

- - Other 2014-03-07
EBF4 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/EBF4
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
EBF4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EBF4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
EBF4 Shared database
https://databases.lovd.nl/shared/genes/EBF4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EBI3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBI3[gene]

- - Other 2014-03-07
EBI3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EBI3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
EBI3 Shared database
https://databases.lovd.nl/shared/genes/EBI3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EBLN1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/EBLN1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
EBLN1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EBLN1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
EBLN1 NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/EBLN1
XY Liu
SUDA
- - LOVD 3.X 2017-03-21
EBLN1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBLN1[gene]

- - Other 2014-03-07
EBLN1 Shared database
https://databases.lovd.nl/shared/genes/EBLN1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EBLN2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EBLN2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
EBLN2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBLN2[gene]

- - Other 2014-03-07
EBLN2 Shared database
https://databases.lovd.nl/shared/genes/EBLN2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EBNA1BP2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/EBNA1BP2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
EBNA1BP2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBNA1BP2[gene]

- - Other 2014-03-07
EBNA1BP2 Shared database
https://databases.lovd.nl/shared/genes/EBNA1BP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
EBP LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/EBP
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
EBP Shared database
https://databases.lovd.nl/shared/genes/EBP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
EBP Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=EBP
LOVD-team, but with Curator vacancy
Human & Clinical Genetics, LUMC, Leiden, NL
- - LOVD 2.X 2013-01-05
EBP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=EBP[gene]

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

- - Other 2014-06-02
ECD Shared database
https://databases.lovd.nl/shared/genes/ECD
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ECD Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/ECD
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-14
ECD ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ECD[gene]

- - Other 2014-03-07
ECE1 Shared database
https://databases.lovd.nl/shared/genes/ECE1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ECE1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ECE1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
ECE1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ECE1[gene]

- - Other 2014-04-03
ECE2 Shared database
https://databases.lovd.nl/shared/genes/ECE2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ECE2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/ECE2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
ECE2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ECE2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
ECE2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ECE2[gene]

- - Other 2014-03-07
ECEL1 Shared database
https://databases.lovd.nl/shared/genes/ECEL1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ECEL1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/ECEL1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-13
ECEL1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ECEL1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
ECEL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ECEL1[gene]

- - Other 2014-06-02
ECEL1P2 Shared database
https://databases.lovd.nl/shared/genes/ECEL1P2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
ECH1 Shared database
https://databases.lovd.nl/shared/genes/ECH1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ECH1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ECH1[gene]

- - Other 2014-03-07
ECH1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ECH1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
ECHDC1 Shared database
https://databases.lovd.nl/shared/genes/ECHDC1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ECHDC1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ECHDC1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
ECHDC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ECHDC1[gene]

- - Other 2014-03-07
ECHDC2 Shared database
https://databases.lovd.nl/shared/genes/ECHDC2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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