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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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:

Variant Effect Prediction Training Course 2021
Information Currently active filter: genes starting with J. Remove filter

276 entries on 3 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
JADE1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JADE1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 35 ClinVar 2021-04-04
JADE1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JADE1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
JADE1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JADE1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JADE2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JADE2[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 20 ClinVar 2021-06-09
JADE2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JADE2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
JADE2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JADE2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JADE3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JADE3[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 157 ClinVar 2021-08-07
JADE3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JADE3
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
JADE3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JADE3
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JAG1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAG1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 813 ClinVar 2021-09-08
JAG1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAG1
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 739 LOVD 3.X 2021-09-09
JAG1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAG1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-11
JAG1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAG1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
JAG1 TBsLVD Tuberculosis susceptibility Locus Variation Database
http://genome.igib.res.in/tblovd/home.php?select_db=JAG1

Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 2.X Unknown
JAG1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAG1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-06
JAG1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAG1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JAG1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAG1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 2.X 2010-04-29
JAG2 Craniofacial anomalies
http://bipmed.iqm.unicamp.br/cfa/genes/JAG2
Admin
BRAINN
Rating: 3Rating: 3Rating: 3Rating: 3 6 LOVD 3.X 2017-08-10
JAG2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAG2[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 90 ClinVar 2020-11-09
JAG2 Malaysian Node of the Human Variome Project Database
http://www.kk.usm.my/LOVDv.3.0/genes/JAG2
MyHVP
USM
Rating: 2Rating: 2Rating: 2Rating: 2 2 LOVD 3.X 2021-09-09
JAG2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAG2
Global Variome, with Curator vacancy
Database manager
Rating: 1Rating: 1Rating: 1Rating: 1 3 LOVD 3.X 2021-05-09
JAG2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAG2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
JAG2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAG2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-22
JAG2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAG2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JAG2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAG2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JAG2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAG2
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-12
JAGN1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAGN1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 111 ClinVar 2021-09-08
JAGN1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAGN1
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 10 LOVD 3.X 2020-09-15
JAGN1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAGN1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
JAGN1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAGN1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JAGN1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAGN1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JAGN1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAGN1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-17
JAGN1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAGN1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-06
JAK1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAK1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 74 ClinVar 2021-07-07
JAK1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAK1
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 20 LOVD 3.X 2021-02-08
JAK1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAK1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-18
JAK1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAK1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JAK1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAK1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JAK1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAK1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
JAK1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAK1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-09-30
JAK2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAK2[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 239 ClinVar 2021-08-07
JAK2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAK2
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 42 LOVD 3.X 2021-02-08
JAK2 Malaysian Node of the Human Variome Project Database
http://www.kk.usm.my/LOVDv.3.0/genes/JAK2
MyHVP
USM
Rating: 2Rating: 2Rating: 2Rating: 2 1 LOVD 3.X 2021-08-01
JAK2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAK2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
JAK2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/JAK2
Sebastian Lunke
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-05
JAK2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAK2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-10
JAK2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAK2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
JAK3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAK3[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 424 ClinVar 2021-09-08
JAK3 Global Variome shared LOVD