Locus Specific Mutation Databases

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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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385 entries on 4 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
XAB2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/XAB2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
XAB2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XAB2[gene]
- - ClinVar 2019-09-02
XAB2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XAB2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XAB2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XAB2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XAB2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/XAB2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
XAB2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XAB2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XAB2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/XAB2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
XAB2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XAB2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XACT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XACT[gene]
- - ClinVar 2019-03-05
XAF1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/XAF1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
XAF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XAF1[gene]
- - ClinVar 2019-03-05
XAF1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XAF1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XAF1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XAF1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XAF1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XAF1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XAF1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/XAF1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
XAF1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/XAF1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-04
XAF1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XAF1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XAGE-4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XAGE-4[gene]
- - ClinVar 2019-03-05
XAGE1A ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XAGE1A[gene]
- - ClinVar 2019-12-02
XAGE1A Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XAGE1A		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XAGE1B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XAGE1B[gene]
- - ClinVar 2019-12-02
XAGE1B Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XAGE1B		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XAGE1C Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XAGE1C		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XAGE1D Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XAGE1D		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XAGE1E Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XAGE1E		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XAGE2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XAGE2[gene]
- - ClinVar 2019-12-02
XAGE2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XAGE2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XAGE3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XAGE3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XAGE3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XAGE3[gene]
- - ClinVar 2019-12-02
XAGE3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XAGE3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
XAGE3 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/XAGE3		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
XAGE5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XAGE5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XAGE5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XAGE5[gene]
- - ClinVar 2019-12-02
XAGE5 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XAGE5		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XAGE5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/XAGE5		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
XAGE5 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XAGE5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XAGE5 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/XAGE5		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
XAGE5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XAGE5		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XBP1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XBP1[gene]
- - ClinVar 2019-10-01
XBP1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XBP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XBP1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XBP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XBP1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XBP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XBP1 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
XBP1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/XBP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
XBP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XBP1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XCL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XCL1[gene]
- - ClinVar 2019-10-01
XCL1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XCL1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XCL1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XCL1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XCL1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XCL1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XCL1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/XCL1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
XCL1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/XCL1		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
XCL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XCL1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XCL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XCL2[gene]
- - ClinVar 2019-10-01
XCL2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XCL2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XCL2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/XCL2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
XCL2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XCL2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XCR1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XCR1[gene]
- - ClinVar 2019-10-01
XCR1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XCR1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XCR1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XCR1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XCR1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/XCR1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-13
XCR1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XCR1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XCR1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XCR1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XDH BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XDH		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XDH ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XDH[gene]
- - ClinVar 2019-10-01
XDH BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XDH		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XDH BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/XDH		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
XDH LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/XDH		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
XDH PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
XDH BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XDH		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XDH Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XDH		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XG BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XG		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XG ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XG[gene]
- - ClinVar 2019-10-01
XG BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XG		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XG Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XG		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
XG LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/XG		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
XG BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/XG		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11
XG BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XG		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XGPY2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XGPY2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
XIAP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XIAP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XIAP BIRC4base: Variation registry for X-linked lymphoproliferative syndrome
http://structure.bmc.lu.se/idbase/BIRC4base/		 Mauno Vihinen
Dept. of Experimental Medical Science, Lund University		 - - MUTbase 2013-04-08
XIAP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XIAP[gene]
- - ClinVar 2019-11-05
XIAP BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XIAP		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XIAP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XIAP		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
XIAP BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XIAP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XIAP BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/XIAP		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11
XIAP **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=XIAP		 Ammar Husami
Cincinnati Children's Hospital Medical Center		 - - LOVD 2.X 2010-04-23
XIAP LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/XIAP		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-02
XIRP1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XIRP1[gene]
- - ClinVar 2019-03-05
XIRP1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XIRP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XIRP1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/XIRP1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
XIRP1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/XIRP1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-09
XIRP1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XIRP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XIRP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/XIRP1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-02-22
XIRP1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XIRP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XIRP2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=XIRP2[gene]
- - ClinVar 2019-10-01
XIRP2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/XIRP2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
XIRP2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/XIRP2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
XIRP2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/XIRP2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
XIRP2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/XIRP2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
XIRP2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/XIRP2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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