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:

 Supported by:
Genome Scan, Next Generation Sequencing Services
Information Currently active filter: genes starting with J. Remove filter

264 entries on 3 pages. Showing entries 1 - 100.
« First ‹ Prev     1 2 3     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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JADE1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-14
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JADE2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-14
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JADE3		 Admin
BRAINN		 - - LOVD 3.X 2018-11-05
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 2018-11-01
JAG1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAG1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
JAG1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAG1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11
JAG1 DIAN DIAGNOSTICS & 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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAG2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-22
JAG2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAG2		 Admin
BRAINN		 - - LOVD 3.X 2018-12-04
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 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAGN1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-15
JAGN1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAGN1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAGN1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAK1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
JAK1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAK1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-20
JAK1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAK1		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
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 2018-07-24
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAK2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-10
JAK2 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAK2		 Admin
BRAINN		 - - LOVD 3.X 2018-12-07
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAK3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-09
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAK3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAKMIP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-13
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 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAKMIP1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-21
JAKMIP1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAKMIP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAKMIP2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-15
JAKMIP2 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAKMIP2		 Admin
BRAINN		 - - LOVD 3.X 2018-11-23
JAKMIP2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAKMIP2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
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
JAKMIP2-AS1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAKMIP2-AS1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-15
JAKMIP2-AS1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAKMIP2-AS1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-23
JAKMIP2-AS1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAKMIP2-AS1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAKMIP3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-04
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 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAKMIP3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
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
JAM2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAM2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11
JAM2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAM2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
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 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAM3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
JAM3 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAM3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
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
« First ‹ Prev     1 2 3     Next › Last »