Locus Specific Mutation Databases

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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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294 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JADE1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
JADE1 Iran Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JADE1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JADE1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JADE1[gene]
- - ClinVar 2020-01-06
JADE2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JADE2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
JADE2 Iran Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JADE2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JADE2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JADE2[gene]
- - ClinVar 2020-01-06
JADE3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JADE3		 Admin
BRAINN		 - - 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		 - - LOVD 3.X 2019-11-01
JADE3 Iran Variation Database
Not curated, 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]
- - ClinVar 2019-12-02
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		 - - 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		 - - 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 2019-08-21
JAG1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAG1		 Admin
BRAINN		 - - 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		 - - LOVD 3.X 2019-11-01
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 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAG1		 Admin
BRAINN		 - - 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		 - - LOVD 2.X 2010-04-29
JAG1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAG1[gene]
- - ClinVar 2020-01-06
JAG2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAG2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-06-06
JAG2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAG2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
JAG2 Iran Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAG2		 Admin
BRAINN		 - - 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		 - - 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		 - - LOVD 3.X 2019-11-01
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
Not curated, 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]
- - ClinVar 2020-01-06
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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAGN1		 Admin
BRAINN		 - - 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		 - - 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		 - - 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		 - - 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		 - - LOVD 3.X 2018-10-06
JAGN1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAGN1[gene]
- - ClinVar 2020-01-06
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
Not curated, 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
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAK1		 Admin
BRAINN		 - - 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		 - - 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		 - - 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		 - - LOVD 3.X 2018-09-30
JAK1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAK1[gene]
- - ClinVar 2020-01-06
JAK2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAK2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-27
JAK2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAK2		 Admin
BRAINN		 - - 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		 - - 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		 - - 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		 - - LOVD 3.X 2019-11-01
JAK2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAK2[gene]
- - ClinVar 2020-01-06
JAK3 BIPMed SNP Array
Not curated, does not accept submissions
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 2019-07-05
JAK3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAK3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAK3 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://genet.ir/variome/genes/JAK3		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
JAK3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAK3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAK3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
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]
- - ClinVar 2020-01-06
JAKMIP1 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAKMIP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
JAKMIP1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAKMIP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAKMIP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/JAKMIP1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
JAKMIP1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAKMIP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAKMIP1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAKMIP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
JAKMIP1 Iran Variation Database
Not curated, 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]
- - ClinVar 2020-01-06
JAKMIP2 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAKMIP2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
JAKMIP2 Iran Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAKMIP2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAKMIP2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAKMIP2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAKMIP2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
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]
- - ClinVar 2019-10-01
JAKMIP2-AS1 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAKMIP2-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
JAKMIP2-AS1 Iran Variation Database
Not curated, 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 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAKMIP2-AS1[gene]
- - ClinVar 2019-02-25
JAKMIP2-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAKMIP2-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAKMIP2-AS1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAKMIP2-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAKMIP2-AS1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAKMIP3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
JAKMIP3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAKMIP3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAKMIP3 Iran Variation Database
Not curated, 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
Not curated, 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 WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAKMIP3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAKMIP3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
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]
- - ClinVar 2019-10-01
JAM2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=JAM2[gene]
- - ClinVar 2020-01-06
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
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/JAM2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
JAM2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/JAM2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
JAM2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/JAM2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
JAM2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/JAM2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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