Locus Specific Mutation Databases

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146 entries on 2 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
JADE1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JADE1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
JADE1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JADE1[gene]

- - Other 2014-03-07
JADE2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JADE2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
JADE2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JADE2[gene]

- - Other 2014-06-02
JADE3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JADE3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-14
JADE3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JADE3[gene]

- - Other 2014-09-01
JAG1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAG1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
JAG1 Shared database
https://databases.lovd.nl/shared/genes/JAG1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-05-26
JAG1 Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
http://www.genomed.org/lovd2/home.php?select_db=JAG1
Ming Qi, PhD, FACMG & Peikuan Cong & Min Pan
Zhejiang University
- - LOVD 2.X 2013-05-21
JAG1 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=JAG1
Ammar Husami
Cincinnati Children's Hospital Medical Center
- - LOVD 2.X 2010-04-29
JAG1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAG1[gene]

- - Other 2014-09-01
JAG2 Shared database
https://databases.lovd.nl/shared/genes/JAG2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAG2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JAG2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
JAG2 Craniofacial anomalies
http://bipmed.iqm.unicamp.br/cfa/genes/JAG2
Admin
BRAINN
- - LOVD 3.X 2017-08-10
JAG2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAG2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
JAG2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAG2[gene]

- - Other 2014-03-07
JAGN1 Shared database
https://databases.lovd.nl/shared/genes/JAGN1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAGN1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAGN1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
JAGN1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAGN1[gene]

- - Other 2014-11-02
JAK1 Shared database
https://databases.lovd.nl/shared/genes/JAK1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-08-05
JAK1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAK1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
JAK1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JAK1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
JAK1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAK1[gene]

- - Other 2014-08-07
JAK2 Shared database
https://databases.lovd.nl/shared/genes/JAK2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2013-10-02
JAK2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAK2
Sebastian Lunke
University of Melbourne
- - LOVD 3.X 2013-06-05
JAK2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAK2[gene]

- - Other 2014-09-01
JAK3 JAK3base: Variation registry for autosomal recessive severe combined JAK3 deficiency
http://structure.bmc.lu.se/idbase/JAK3base/
Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
- - MUTbase Unknown
JAK3 Shared database
https://databases.lovd.nl/shared/genes/JAK3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-05-26
JAK3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAK3
Sebastian Lunke
University of Melbourne
- - LOVD 3.X 2013-06-05
JAK3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JAK3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
JAK3 **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=JAK3
Ammar Husami
Cincinnati Children's Hospital Medical Center
- - LOVD 2.X 2014-04-30
JAK3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAK3[gene]

- - Other 2014-08-07
JAKMIP1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAKMIP1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
JAKMIP1 Shared database
https://databases.lovd.nl/shared/genes/JAKMIP1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-08-04
JAKMIP1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JAKMIP1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-14
JAKMIP1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAKMIP1[gene]

- - Other 2014-03-07
JAKMIP2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAKMIP2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
JAKMIP2 Shared database
https://databases.lovd.nl/shared/genes/JAKMIP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAKMIP2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JAKMIP2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
JAKMIP2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAKMIP2[gene]

- - Other 2014-03-07
JAKMIP2-AS1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAKMIP2-AS1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
JAKMIP2-AS1 Shared database
https://databases.lovd.nl/shared/genes/JAKMIP2-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAKMIP2-AS1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JAKMIP2-AS1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
JAKMIP3 Shared database
https://databases.lovd.nl/shared/genes/JAKMIP3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAKMIP3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JAKMIP3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
JAKMIP3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAKMIP3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
JAKMIP3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAKMIP3[gene]

- - Other 2014-03-07
JAM2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAM2[gene]

- - Other 2014-09-01
JAM2 Shared database
https://databases.lovd.nl/shared/genes/JAM2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAM2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAM2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-10
JAM3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAM3[gene]

- - Other 2014-03-07
JAM3 Shared database
https://databases.lovd.nl/shared/genes/JAM3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2012-11-10
JARID2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JARID2[gene]

- - Other 2014-03-07
JARID2 Shared database
https://databases.lovd.nl/shared/genes/JARID2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JARID2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JARID2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
JARID2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JARID2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
JARID2-AS1 Shared database
https://databases.lovd.nl/shared/genes/JARID2-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAZF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAZF1[gene]

- - Other 2014-03-07
JAZF1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAZF1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
JAZF1 Shared database
https://databases.lovd.nl/shared/genes/JAZF1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
JAZF1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JAZF1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
JAZF1-AS1 Shared database
https://databases.lovd.nl/shared/genes/JAZF1-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-11
JAZF1-AS1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAZF1-AS1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
JDP2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JDP2[gene]

- - Other 2014-03-07
JDP2 Shared database
https://databases.lovd.nl/shared/genes/JDP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JDP2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JDP2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
JHDM1D LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JHDM1D
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
JHDM1D Shared database
https://databases.lovd.nl/shared/genes/JHDM1D
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
JKAMP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JKAMP[gene]

- - Other 2014-03-07
JKAMP Shared database
https://databases.lovd.nl/shared/genes/JKAMP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JKAMP LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JKAMP
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
JMJD1C ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JMJD1C[gene]

- - Other 2014-06-02
JMJD1C Shared database
https://databases.lovd.nl/shared/genes/JMJD1C
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JMJD1C LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JMJD1C
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
JMJD1C Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JMJD1C
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
JMJD4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JMJD4[gene]

- - Other 2014-03-07
JMJD4 Shared database
https://databases.lovd.nl/shared/genes/JMJD4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JMJD4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JMJD4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
JMJD6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JMJD6[gene]

- - Other 2014-03-07
JMJD6 Shared database
https://databases.lovd.nl/shared/genes/JMJD6
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JMJD6 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JMJD6
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
JMJD7 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JMJD7[gene]

- - Other 2014-06-02
JMJD7 Shared database
https://databases.lovd.nl/shared/genes/JMJD7
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JMJD7 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JMJD7
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
JMJD7 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JMJD7
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
JMJD7-PLA2G4B Shared database
https://databases.lovd.nl/shared/genes/JMJD7-PLA2G4B
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JMJD7-PLA2G4B Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JMJD7-PLA2G4B
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
JMJD7-PLA2G4B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JMJD7-PLA2G4B[gene]

- - Other 2014-06-02
JMJD7-PLA2G4B LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JMJD7-PLA2G4B
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
JMJD8 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JMJD8[gene]

- - Other 2014-06-02
JMJD8 Shared database
https://databases.lovd.nl/shared/genes/JMJD8
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JMJD8 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/JMJD8
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
JMY LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JMY
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
JMY ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JMY[gene]

- - Other 2014-03-07
JMY Shared database
https://databases.lovd.nl/shared/genes/JMY
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JOSD1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JOSD1[gene]

- - Other 2014-03-07
JOSD1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JOSD1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-10
JOSD1 Shared database
https://databases.lovd.nl/shared/genes/JOSD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JOSD2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JOSD2[gene]

- - Other 2014-03-07
JOSD2 Shared database
https://databases.lovd.nl/shared/genes/JOSD2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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