Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

Please select the first letter of the Gene:
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Or, specify the HGNC Gene Symbol:

Information Currently active filter: genes starting with J. Remove filter

185 entries on 2 pages. Showing entries 1 - 100.
« First ‹ Prev     1 2     Next › Last »

AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
JADE1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JADE1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JADE2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JADE3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAG1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
JAG1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAG1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-06-03
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAG2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAG2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAG2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAGN1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAGN1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAGN1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAK2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2013-10-02
JAK2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAK2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
JAK2 MexVar
http://bioinf1.fcm.unicamp.br/mexvar/genes/JAK2
Admin
Tecnologico de Monterey
- - LOVD 3.X 2018-02-20
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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAK3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAK3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-06-03
JAK3 MexVar
http://bioinf1.fcm.unicamp.br/mexvar/genes/JAK3
Admin
Tecnologico de Monterey
- - LOVD 3.X 2018-02-20
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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAKMIP1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
JAKMIP1 Global Variome shared LOVD
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAKMIP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAKMIP2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAKMIP2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAKMIP2-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAKMIP2-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAKMIP2-AS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAKMIP3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JAKMIP3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAKMIP3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
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
JAM2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAM2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
JAM3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAM3[gene]

- - Other 2014-03-07
JAM3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAM3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
JAM3 Global Variome shared LOVD
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JARID2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JARID2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JARID2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
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 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAZF1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAZF1-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-11
JAZF1-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JAZF1-AS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JDP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JDP2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JDP2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JKAMP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JKAMP BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JKAMP
Admin
BRAINN
- - LOVD 3.X 2017-10-26
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 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JMJD1C
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
JMJD1C BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/JMJD1C
Admin
BRAINN
- - LOVD 3.X 2017-10-26
JMJD1C MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/JMJD1C
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2018-06-25
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
JMJD1C-AS1 MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/JMJD1C-AS1
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2018-06-25
JMJD1C-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JMJD1C-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
« First ‹ Prev     1 2     Next › Last »