Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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2260 entries on 23 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
U2AF1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/U2AF1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
U2AF1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/U2AF1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/U2AF1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
U2AF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=U2AF1[gene]
- - ClinVar 2019-10-01
U2AF1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/U2AF1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
U2AF1 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://genet.ir/variome/genes/U2AF1L4		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
U2AF1L4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/U2AF1L4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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]
- - ClinVar 2019-10-01
U2AF1L4 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/U2AF2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
U2AF2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
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]
- - ClinVar 2020-01-06
U2AF2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/U2AF2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
U2AF2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/U2AF2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
U2SURP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/U2SURP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
U2SURP BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/U2SURP		 Admin
BRAINN		 - - LOVD 3.X 2018-10-14
U2SURP BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/U2SURP		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
U2SURP LOVD - Leiden Open Variation Database
Not curated, 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 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/U2SURP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
U2SURP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=U2SURP[gene]
- - ClinVar 2020-01-06
UACA BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UACA		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UACA BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UACA		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
UACA Iran Variation Database
Not curated, 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]
- - ClinVar 2020-01-06
UACA BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UACA		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
UACA LOVD - Leiden Open Variation Database
Not curated, 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 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UACA		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UACA Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UACA		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
UAP1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UAP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-14
UAP1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UAP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
UAP1 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UAP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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]
- - ClinVar 2020-01-06
UAP1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UAP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UAP1L1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UAP1L1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UAP1L1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UAP1L1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
UAP1L1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UAP1L1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UAP1L1 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
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]
- - ClinVar 2019-10-01
UBA1 BIPMed SNP Array
Not curated, does not accept submissions
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 2019-07-12
UBA1 LOVD - Leiden Open Variation Database
Not curated, 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 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBA1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-17
UBA1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA1[gene]
- - ClinVar 2020-01-06
UBA1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UBA2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
UBA2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
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 2019-04-28
UBA2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA2[gene]
- - ClinVar 2019-10-01
UBA2 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UBA3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
UBA3 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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
Not curated, does not accept submissions
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]
- - ClinVar 2019-10-01
UBA5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA5 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UBA5		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
UBA5 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBA5		 Admin
BRAINN		 - - LOVD 3.X 2018-11-23
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]
- - ClinVar 2020-01-06
UBA52 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UBA52		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
UBA52 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA52		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA52 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBA52		 Admin
BRAINN		 - - LOVD 3.X 2018-11-14
UBA52 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA52		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
UBA52 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA52		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA52 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA52[gene]
- - ClinVar 2019-03-05
UBA52 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UBA6		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
UBA6 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA6		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA6 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
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]
- - ClinVar 2020-01-06
UBA6 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA6		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA6-AS1 BIPMed SNP Array
Not curated, does not accept submissions
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 2019-07-12
UBA6-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA6-AS1[gene]
- - ClinVar 2019-02-25
UBA6-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA6-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA7 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA7		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBA7 Iran Variation Database
Not curated, 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
Not curated, 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]
- - ClinVar 2020-01-06
UBAC1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBAC1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
UBAC1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UBAC1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
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