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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10981 entries on 110 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Rating     

Unique variants     

Software     

Last updated     
M1AP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=M1AP[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 21 ClinVar 2020-09-05
M1AP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/M1AP
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X 2020-07-28
M1AP BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/M1AP
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-05
M1AP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/M1AP
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
M1AP BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/M1AP
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
M1AP BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/M1AP
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
M6PR Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/M6PR
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 10 LOVD 3.X 2020-09-15
M6PR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=M6PR[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 38 ClinVar 2020-04-07
M6PR BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/M6PR
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-01
M6PR LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/M6PR
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-13
M6PR BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/M6PR
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
M6PR BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/M6PR
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
M6PR BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/M6PR
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MAATS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAATS1
Global Variome, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 - LOVD 3.X 2020-09-24
MAATS1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAATS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MAATS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAATS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MAATS1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAATS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-16
MAATS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MAATS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
MAB21L1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAB21L1
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 33 LOVD 3.X 2020-09-15
MAB21L1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAB21L1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 53 ClinVar 2019-10-01
MAB21L1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAB21L1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MAB21L2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAB21L2
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 103 LOVD 3.X 2020-09-15
MAB21L2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAB21L2[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 42 ClinVar 2020-09-05
MAB21L2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAB21L2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MAB21L2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MAB21L2
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-17
MAB21L3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAB21L3
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 2 LOVD 3.X 2020-08-06
MAB21L3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAB21L3[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 12 ClinVar 2019-05-03
MAB21L3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAB21L3
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-09-30
MAB21L3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAB21L3
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MAB21L3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MAB21L3
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
MAB21L3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAB21L3
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MAB21L4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAB21L4[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 97 ClinVar 2020-07-06
MACC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACC1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 35 ClinVar 2020-04-07
MACC1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACC1
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X 2014-07-25
MACC1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACC1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MACC1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACC1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-09
MACC1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MACC1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
MACC1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MACC1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-14
MACC1-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACC1-AS1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 18 ClinVar 2019-02-25
MACC1-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACC1-AS1
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X 2014-07-25
MACC1-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACC1-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MACC1-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MACC1-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
MACC1-AS1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACC1-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-12
MACF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACF1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 60 ClinVar 2020-10-03
MACF1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACF1
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
MACF1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MACF1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-18
MACF1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACF1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MACF1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACF1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-09-27
MACF1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MACF1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
MACF1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MACF1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MACIR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACIR[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 30 ClinVar 2020-04-07
MACO1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACO1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 13 ClinVar 2019-11-05
MACORIS ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACORIS[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 2 ClinVar 2019-02-25
MACROD1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROD1[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 69 ClinVar 2020-08-03
MACROD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACROD1
LOVD-team, but with Curator vacancy
LUMC
Rating: 2Rating: 2Rating: 2Rating: 2 1 LOVD 3.X 2020-06-30
MACROD1 MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/MACROD1
Lishuang Shen
Children's Hospital Los Angeles
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
MACROD1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACROD1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MACROD1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MACROD1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-13
MACROD1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MACROD1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MACROD1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MACROD1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
MACROD1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACROD1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-20
MACROD2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROD2[gene]

Rating: 3Rating: 3Rating: 3Rating: 3 131 ClinVar 2020-08-03
MACROD2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACROD2
GVsharedLOVD, with Curator vacancy
Database manager
Rating: 2Rating: 2Rating: 2Rating: 2 6 LOVD 3.X 2020-07-16
MACROD2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACROD2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-06
MACROD2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACROD2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MACROD2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MACROD2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
MACROD2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MACROD2
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-11
MACROD2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MACROD2
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MACROD2-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROD2-AS1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 23 ClinVar 2019-02-25
MACROD2-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACROD2-AS1
LOVD-team, but with Curator vacancy
LUMC
Rating: 1Rating: 1Rating: 1Rating: 1 - LOVD 3.X Unknown
MACROD2-AS1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACROD2-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-06
MACROD2-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACROD2-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MACROD2-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MACROD2-AS1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
MACROD2-IT1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROD2-IT1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 14 ClinVar 2019-03-05
MACROD2-IT1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACROD2-IT1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MACROD2-IT1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MACROD2-IT1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
MACROH2A1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROH2A1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 22 ClinVar 2020-01-06
MACROH2A2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROH2A2[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 16 ClinVar 2020-01-06
MAD1L1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAD1L1
Global Variome, with Curator vacancy
Database manager
Rating: 3Rating: 3Rating: 3Rating: 3 13 LOVD 3.X 2020-09-15
MAD1L1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAD1L1[gene]

Rating: 2Rating: 2Rating: 2Rating: 2 82 ClinVar 2020-04-07
MAD1L1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAD1L1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MAD1L1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAD1L1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2018-10-13
MAD1L1 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
Rating: 0Rating: 0Rating: 0Rating: 0 - Other Unknown
MAD1L1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MAD1L1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2017-10-26
MAD1L1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MAD1L1
Graham Taylor
University of Melbourne
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2013-06-14
MAD1L1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAD1L1
Admin
BRAINN
Rating: 0Rating: 0Rating: 0Rating: 0 - LOVD 3.X 2019-11-01
MAD2L1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAD2L1[gene]