Locus Specific Mutation Databases

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Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
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1813 entries on 19 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
U2AF1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/U2AF1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
U2AF1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/U2AF1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
U2AF1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/U2AF1
Admin
BRAINN
- - LOVD 3.X 2018-10-11
U2AF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=U2AF1[gene]

- - Other 2014-09-01
U2AF1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/U2AF1
Admin
BRAINN
- - LOVD 3.X 2018-10-06
U2AF1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/U2AF1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-10
U2AF1L4 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/U2AF1L4
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
U2AF1L4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/U2AF1L4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
U2AF1L4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=U2AF1L4[gene]

- - Other 2014-03-07
U2AF1L4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/U2AF1L4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
U2AF2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/U2AF2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
U2AF2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/U2AF2
Admin
BRAINN
- - LOVD 3.X 2018-10-05
U2AF2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/U2AF2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
U2AF2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=U2AF2[gene]

- - Other 2014-06-02
U2AF2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/U2AF2
Admin
BRAINN
- - LOVD 3.X 2018-10-09
U2SURP BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/U2SURP
Admin
BRAINN
- - LOVD 3.X 2018-10-14
U2SURP BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/U2SURP
Admin
BRAINN
- - LOVD 3.X 2017-10-26
U2SURP LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/U2SURP
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
U2SURP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/U2SURP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
U2SURP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=U2SURP[gene]

- - Other 2014-03-07
UACA BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/UACA
Admin
BRAINN
- - LOVD 3.X 2018-10-06
UACA BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UACA
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UACA Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/UACA
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
UACA ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UACA[gene]

- - Other 2014-06-02
UACA BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UACA
Admin
BRAINN
- - LOVD 3.X 2018-10-03
UACA LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UACA
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
UACA Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UACA
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
UAP1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UAP1
Admin
BRAINN
- - LOVD 3.X 2018-10-14
UAP1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UAP1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UAP1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UAP1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
UAP1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UAP1
Admin
BRAINN
- - LOVD 3.X 2018-10-20
UAP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UAP1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UAP1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UAP1[gene]

- - Other 2014-06-02
UAP1L1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UAP1L1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UAP1L1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UAP1L1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
UAP1L1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UAP1L1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UAP1L1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UAP1L1
Admin
BRAINN
- - LOVD 3.X 2018-10-20
UAP1L1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UAP1L1[gene]

- - Other 2014-09-01
UBA1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBA1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBA1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-08-17
UBA1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UBA1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
UBA1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA1[gene]

- - Other 2014-09-01
UBA2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBA2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBA2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBA2
Admin
BRAINN
- - LOVD 3.X 2018-10-05
UBA2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UBA2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA2[gene]

- - Other 2014-03-07
UBA2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UBA2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
UBA2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA2
Admin
BRAINN
- - LOVD 3.X 2018-10-09
UBA3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBA3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBA3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UBA3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
UBA3 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/UBA3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
UBA3 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA3
Admin
BRAINN
- - LOVD 3.X 2018-10-12
UBA3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UBA3 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBA3
Admin
BRAINN
- - LOVD 3.X 2018-10-06
UBA3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA3[gene]

- - Other 2014-03-07
UBA5 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBA5
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBA5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA5
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-08-24
UBA5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA5[gene]

- - Other 2014-03-07
UBA52 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBA52
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBA52 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA52
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UBA52 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA52[gene]

- - Other 2014-06-02
UBA52 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UBA52
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
UBA6 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBA6
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBA6 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA6
Admin
BRAINN
- - LOVD 3.X 2018-10-13
UBA6 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UBA6
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
UBA6 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA6
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UBA6 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBA6
Admin
BRAINN
- - LOVD 3.X 2018-10-07
UBA6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA6[gene]

- - Other 2014-03-07
UBA6-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBA6-AS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBA6-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA6-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
UBA7 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/UBA7
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
UBA7 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UBA7
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
UBA7 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA7
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UBA7 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA7[gene]

- - Other 2014-03-07
UBAC1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBAC1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBAC1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UBAC1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
UBAC1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBAC1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UBAC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBAC1[gene]

- - Other 2014-09-01
UBAC2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBAC2
Admin
BRAINN
- - LOVD 3.X 2018-10-06
UBAC2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBAC2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
UBAC2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/UBAC2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
UBAC2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBAC2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBAC2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBAC2
Admin
BRAINN
- - LOVD 3.X 2018-10-02
UBAC2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBAC2[gene]

- - Other 2014-06-02
UBAC2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/UBAC2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
UBAC2-AS1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBAC2-AS1
Admin
BRAINN
- - LOVD 3.X 2018-10-06
UBAC2-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBAC2-AS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBAC2-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBAC2-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UBAC2-AS1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBAC2-AS1
Admin
BRAINN
- - LOVD 3.X 2018-10-02
UBALD1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/UBALD1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
UBALD1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBALD1[gene]

- - Other 2014-03-07
UBALD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBALD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UBALD2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBALD2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBALD2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBALD2
Admin
BRAINN
- - LOVD 3.X 2018-10-12
UBALD2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBALD2[gene]

- - Other 2014-03-07
UBALD2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBALD2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
UBAP1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/UBAP1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
UBAP1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBAP1
Admin
BRAINN
- - LOVD 3.X 2018-10-10
UBAP1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/UBAP1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
UBAP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBAP1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
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