Locus Specific Mutation Databases

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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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338 entries on 4 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
YAE1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YAE1[gene]
- - ClinVar 2020-01-06
YAE1D1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YAE1D1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2014-07-25
YAE1D1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YAE1D1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YAE1D1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/YAE1D1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
YAF2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YAF2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-02
YAF2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YAF2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
YAF2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YAF2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YAF2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YAF2[gene]
- - ClinVar 2019-03-05
YAF2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YAF2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YAF2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YAF2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YAF2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/YAF2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
YAF2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/YAF2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
YAP1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YAP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
YAP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YAP1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
YAP1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YAP1[gene]
- - ClinVar 2020-01-06
YAP1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YAP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YAP1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YAP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YAP1 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
YAP1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YAP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YARS BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YARS		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YARS Inherited Peripheral Neuropathies Mutation Database
http://www.molgen.vib-ua.be/CMTMutations/		 Vincent Timmerman
University of Antwerp, Belgium		 - - Other 0000-00-00
YARS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YARS		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2016-12-02
YARS LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/YARS		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
YARS BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YARS		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YARS BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YARS		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
YARS Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/YARS		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
YARS BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YARS		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YARS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YARS1[gene]
- - ClinVar 2020-01-06
YARS2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YARS2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-11-06
YARS2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YARS2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YARS2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YARS2[gene]
- - ClinVar 2020-01-06
YARS2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YARS2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YARS2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YARS2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YARS2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YARS2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-15
YARS2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/YARS2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
YARS2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/YARS2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
YBEY Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YBEY		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2014-02-28
YBEY LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/YBEY		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-10
YBEY BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YBEY		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YBEY ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YBEY[gene]
- - ClinVar 2019-10-01
YBEY BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YBEY		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YBEY BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YBEY		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YBEY Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/YBEY		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
YBEY BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YBEY		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
YBX1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YBX1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
YBX1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YBX1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YBX1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YBX1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-18
YBX1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YBX1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YBX1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YBX1[gene]
- - ClinVar 2019-08-05
YBX1 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
YBX1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YBX1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YBX2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YBX2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
YBX2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/YBX2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
YBX2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YBX2[gene]
- - ClinVar 2019-10-01
YBX2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YBX2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YBX2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YBX2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YBX2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YBX2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YBX2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/YBX2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
YBX2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YBX2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-04
YBX3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YBX3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
YBX3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YBX3[gene]
- - ClinVar 2019-10-01
YBX3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YBX3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YBX3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YBX3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YBX3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YBX3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YBX3P1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YBX3P1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YBX3P1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YBX3P1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-16
YBX3P1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YBX3P1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YBX3P1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YBX3P1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YDJC BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YDJC		 Admin
BRAINN		 - - LOVD 3.X 2018-11-12
YDJC Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YDJC		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
YDJC LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/YDJC		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-10
YDJC BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YDJC		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YDJC BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YDJC		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YDJC ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YDJC[gene]
- - ClinVar 2019-10-01
YDJC BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YDJC		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YDJC Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/YDJC		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
YEATS2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YEATS2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YEATS2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YEATS2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-20
YEATS2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YEATS2[gene]
- - ClinVar 2020-01-06
YEATS2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/YEATS2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
YEATS2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YEATS2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YEATS2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YEATS2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
YEATS2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/YEATS2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
YEATS2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YEATS2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YEATS2-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YEATS2-AS1[gene]
- - ClinVar 2019-02-25
YEATS4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YEATS4		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
YEATS4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YEATS4[gene]
- - ClinVar 2019-03-05
YEATS4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YEATS4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YEATS4 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YEATS4		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YEATS4 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes		 PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering		 - - Other Unknown
YEATS4 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YEATS4		 Admin
BRAINN		 - - LOVD 3.X 2018-10-11
YEATS4 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/YEATS4		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
YES1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/YES1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
YES1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/YES1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
YES1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=YES1[gene]
- - ClinVar 2019-10-01
YES1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/YES1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YES1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/YES1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
YES1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/YES1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
YES1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/YES1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
YES1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/YES1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-04
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