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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2118 entries on 22 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
U2AF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=U2AF1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 83 ClinVar 2020-05-06
U2AF1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/U2AF1
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
U2AF1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/U2AF1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
U2AF1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/U2AF1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
U2AF1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/U2AF1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-10
U2AF1L4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/U2AF1L4
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 11 LOVD 3.X 2020-09-15
U2AF1L4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=U2AF1L4[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 14 ClinVar 2020-04-07
U2AF1L4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/U2AF1L4
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-11
U2AF2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/U2AF2
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 6 LOVD 3.X 2020-09-15
U2AF2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=U2AF2[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 28 ClinVar 2020-01-06
U2AF2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/U2AF2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-05
U2AF2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/U2AF2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
U2SURP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=U2SURP[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 19 ClinVar 2020-07-06
U2SURP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/U2SURP
LOVD-team, but with Curator vacancy
LUMC
Rating: 2Rating: 2Rating: 2Rating: 2 2 LOVD 3.X 2020-06-15
U2SURP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/U2SURP
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-17
U2SURP BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/U2SURP
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
UACA ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UACA[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 18 ClinVar 2020-01-06
UACA Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UACA
LOVD-team, but with Curator vacancy
LUMC
Rating: 2Rating: 2Rating: 2Rating: 2 3 LOVD 3.X 2020-07-06
UACA BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UACA
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
UACA BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UACA
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
UAP1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UAP1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 21 ClinVar 2020-01-06
UAP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UAP1
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
UAP1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UAP1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
UAP1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UAP1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
UAP1L1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UAP1L1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 57 ClinVar 2020-09-05
UAP1L1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UAP1L1
LOVD-team, but with Curator vacancy
LUMC
Rating: 2Rating: 2Rating: 2Rating: 2 5 LOVD 3.X 2020-06-26
UAP1L1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UAP1L1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-13
UAP1L1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UAP1L1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-20
UBA1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 348 ClinVar 2020-09-05
UBA1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA1
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 48 LOVD 3.X 2020-09-15
UBA1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UBA1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
UBA1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
UBA2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA2[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 17 ClinVar 2020-10-03
UBA2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA2
GVsharedLOVD, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 3 LOVD 3.X 2020-07-15
UBA2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UBA2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-05
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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
UBA3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA3[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 12 ClinVar 2019-10-01
UBA3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA3
LOVD-team, but with Curator vacancy
LUMC
Rating: 2Rating: 2Rating: 2Rating: 2 1 LOVD 3.X 2020-06-15
UBA3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA3
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-17
UBA3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA3
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
UBA3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBA3
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-06
UBA5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA5
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 99 LOVD 3.X 2020-09-15
UBA5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA5[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 46 ClinVar 2020-08-03
UBA5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA5
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-23
UBA52 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA52[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 11 ClinVar 2019-03-05
UBA52 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA52
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
UBA52 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UBA52
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-11-14
UBA52 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/UBA52
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-11
UBA6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA6[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 22 ClinVar 2020-04-07
UBA6 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/UBA6
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
UBA6 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/UBA6
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - 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
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-15
UBA6 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/UBA6
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-07
UBA6 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/UBA6
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
UBA6-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=UBA6-AS1[gene]

Rating: 2