Locus Specific Mutation Databases

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

Please select the first letter of the Gene:
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Or, specify the HGNC Gene Symbol:

 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
Information Currently active filter: genes starting with I. Remove filter

3721 entries on 38 pages. Showing entries 1 - 100.
« First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

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
« First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »