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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3721 entries on 38 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
IAH1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/IAH1
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IAH1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=IAH1[gene]

- - ClinVar 2019-09-02
IAH1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/IAH1
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IAH1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/IAH1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
IAH1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/IAH1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
IAH1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/IAH1
Admin
BRAINN
- - LOVD 3.X 2018-10-05
IAH1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/IAH1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
IAPP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=IAPP[gene]

- - ClinVar 2019-10-01
IAPP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/IAPP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
IAPP BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/IAPP
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IAPP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/IAPP
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IAPP LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/IAPP
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
IAPP BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/IAPP
Admin
BRAINN
- - LOVD 3.X 2017-10-26
IAPP BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/IAPP
Admin
BRAINN
- - LOVD 3.X 2018-10-01
IARS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/IARS
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2019-07-18
IARS LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/IARS
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
IARS BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/IARS
Admin
BRAINN
- - LOVD 3.X 2017-10-26
IARS BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/IARS
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IARS Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/IARS
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
IARS BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/IARS
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IARS BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/IARS
Admin
BRAINN
- - LOVD 3.X 2018-10-16
IARS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=IARS1[gene]

- - ClinVar 2019-10-01
IARS2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=IARS2[gene]

- - ClinVar 2019-10-01
IARS2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/IARS2
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IARS2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/IARS2
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IARS2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/IARS2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-10-12
IARS2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/IARS2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
IARS2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/IARS2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
IARS2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/IARS2
Admin
BRAINN
- - LOVD 3.X 2018-10-01
IARS2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/IARS2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
IATPR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=IATPR[gene]

- - ClinVar 2019-02-25
IBA57 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=IBA57[gene]

- - ClinVar 2019-10-01
IBA57 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/IBA57
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IBA57 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/IBA57
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IBA57 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/IBA57
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
IBA57 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/IBA57
Admin
BRAINN
- - LOVD 3.X 2017-10-26
IBA57 MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/IBA57
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X 2014-04-17
IBA57 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/IBA57
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
IBA57 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/IBA57
Admin
BRAINN
- - LOVD 3.X 2018-10-01
IBA57-DT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=IBA57-DT[gene]

- - ClinVar 2019-02-25
IBSP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=IBSP[gene]

- - ClinVar 2019-08-05
IBSP LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/IBSP
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
IBSP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/IBSP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
IBSP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/IBSP
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IBSP BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/IBSP
Admin
BRAINN
- - LOVD 3.X 2018-10-07
IBSP BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/IBSP
Admin
BRAINN
- - LOVD 3.X 2017-10-26
IBSP Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/IBSP
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-13
IBSP BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/IBSP
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IBTK ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=IBTK[gene]

- - ClinVar 2019-03-05
IBTK Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/IBTK
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
IBTK BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/IBTK
Admin
BRAINN
- - LOVD 3.X 2017-10-26
IBTK BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/IBTK
Admin
BRAINN
- - LOVD 3.X 2019-11-01
IBTK BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/IBTK
Admin
BRAINN
- - LOVD 3.X 2018-10-08
IBTK BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/IBTK
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICA1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ICA1
Admin
BRAINN
- - LOVD 3.X 2018-10-09
ICA1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ICA1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
ICA1 VitiVar - Compendium of genes and variants associated with vitiligo
http://vitivar.igib.res.in/genes/ICA1
Ankita
CSIR-IGIB
- - LOVD 3.X 2015-09-03
ICA1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ICA1[gene]

- - ClinVar 2019-10-01
ICA1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ICA1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2014-07-25
ICA1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/ICA1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
ICA1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/ICA1
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICA1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/ICA1
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICA1L BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/ICA1L
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICA1L ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ICA1L[gene]

- - ClinVar 2019-08-05
ICA1L BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ICA1L
Admin
BRAINN
- - LOVD 3.X 2018-10-05
ICA1L Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ICA1L
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ICA1L BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/ICA1L
Admin
BRAINN
- - LOVD 3.X 2017-10-26
ICA1L BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/ICA1L
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICA1L Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/ICA1L
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
ICA1L LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ICA1L
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
ICAM1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ICAM1
Admin
BRAINN
- - LOVD 3.X 2018-11-16
ICAM1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/ICAM1
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICAM1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ICAM1[gene]

- - ClinVar 2019-03-05
ICAM1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ICAM1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ICAM1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/ICAM1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
ICAM1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/ICAM1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
ICAM1 VitiVar - Compendium of genes and variants associated with vitiligo
http://vitivar.igib.res.in/genes/ICAM1
Ankita
CSIR-IGIB
- - LOVD 3.X 2015-09-03
ICAM1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/ICAM1
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICAM1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ICAM1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
ICAM2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ICAM2[gene]

- - ClinVar 2019-10-01
ICAM2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/ICAM2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
ICAM2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/ICAM2
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICAM2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ICAM2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ICAM2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/ICAM2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
ICAM2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ICAM2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
ICAM2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ICAM2
Admin
BRAINN
- - LOVD 3.X 2018-11-13
ICAM2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/ICAM2
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICAM3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ICAM3
Admin
BRAINN
- - LOVD 3.X 2018-11-16
ICAM3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/ICAM3
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICAM3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ICAM3[gene]

- - ClinVar 2019-10-01
ICAM3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ICAM3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ICAM3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/ICAM3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
ICAM3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/ICAM3
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICAM3 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/ICAM3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
ICAM4 Blood Group Antigen Mutation Database
http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/home
Olga O. Blumenfeld, Dept. of Biochemistry,Santosh Patnaik,Dept. of Cell Biology, Albert Einstein College of Medicine, New York, NY. U.S.A
- - Other Unknown
ICAM4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=ICAM4[gene]

- - ClinVar 2019-03-05
ICAM4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/ICAM4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
ICAM4 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/ICAM4
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
ICAM4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/ICAM4
Admin
BRAINN
- - LOVD 3.X 2019-11-01
ICAM5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/ICAM5
Admin
BRAINN
- - LOVD 3.X 2018-11-16
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