Locus Specific Mutation Databases

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Genome Scan, Next Generation Sequencing Services
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264 entries on 3 pages. Showing entries 1 - 100.
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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
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