Locus Specific Mutation Databases

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8978 entries on 90 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
M1AP BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/M1AP
Admin
BRAINN
- - LOVD 3.X 2018-10-05
M1AP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=M1AP[gene]

- - Other 2014-06-02
M1AP BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/M1AP
Admin
BRAINN
- - LOVD 3.X 2018-11-13
M1AP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/M1AP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
M1AP BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/M1AP
Admin
BRAINN
- - LOVD 3.X 2018-10-09
M1AP BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/M1AP
Admin
BRAINN
- - LOVD 3.X 2017-10-26
M6PR Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/M6PR
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
M6PR BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/M6PR
Admin
BRAINN
- - LOVD 3.X 2018-10-01
M6PR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=M6PR[gene]

- - Other 2014-09-01
M6PR LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/M6PR
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
M6PR BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/M6PR
Admin
BRAINN
- - LOVD 3.X 2017-10-26
M6PR BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/M6PR
Admin
BRAINN
- - LOVD 3.X 2018-10-05
MAATS1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAATS1
Admin
BRAINN
- - LOVD 3.X 2018-11-16
MAATS1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAATS1
Admin
BRAINN
- - LOVD 3.X 2018-11-26
MAATS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAATS1[gene]

- - Other 2014-03-07
MAATS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAATS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
MAATS1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAATS1
Admin
BRAINN
- - LOVD 3.X 2018-10-16
MAATS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MAATS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MAB21L1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAB21L1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
MAB21L1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAB21L1[gene]

- - Other 2014-03-07
MAB21L2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAB21L2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
MAB21L2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAB21L2[gene]

- - Other 2014-08-07
MAB21L2 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAB21L2
Admin
BRAINN
- - LOVD 3.X 2018-11-22
MAB21L2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MAB21L2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
MAB21L3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAB21L3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
MAB21L3 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAB21L3
Admin
BRAINN
- - LOVD 3.X 2018-09-30
MAB21L3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAB21L3[gene]

- - Other 2014-03-07
MAB21L3 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAB21L3
Admin
BRAINN
- - LOVD 3.X 2018-10-03
MAB21L3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MAB21L3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MAB21L3 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAB21L3
Admin
BRAINN
- - LOVD 3.X 2018-10-20
MACC1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACC1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2014-07-25
MACC1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACC1
Admin
BRAINN
- - LOVD 3.X 2018-10-16
MACC1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACC1
Admin
BRAINN
- - LOVD 3.X 2018-10-09
MACC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACC1[gene]

- - Other 2014-06-02
MACC1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MACC1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MACC1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MACC1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
MACC1-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACC1-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2014-07-25
MACC1-AS1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACC1-AS1
Admin
BRAINN
- - LOVD 3.X 2018-11-14
MACC1-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACC1-AS1[gene]

- - Other 2014-08-07
MACC1-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MACC1-AS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MACC1-AS1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACC1-AS1
Admin
BRAINN
- - LOVD 3.X 2018-10-12
MACF1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACF1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
MACF1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACF1[gene]

- - Other 2014-03-07
MACF1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MACF1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
MACF1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/MACF1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
MACF1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACF1
Admin
BRAINN
- - LOVD 3.X 2018-10-03
MACF1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACF1
Admin
BRAINN
- - LOVD 3.X 2018-09-27
MACF1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MACF1
Admin
BRAINN
- - LOVD 3.X 2018-10-19
MACROD1 MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
https://mseqdr.org/MITO/genes/MACROD1
Lishuang Shen
Children's Hospital Los Angeles
- - LOVD 3.X Unknown
MACROD1 MexVar
http://bioinf1.fcm.unicamp.br/mexvar/genes/MACROD1
Admin
Tecnologico de Monterey
- - LOVD 3.X 2018-02-20
MACROD1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACROD1
Admin
BRAINN
- - LOVD 3.X 2018-12-02
MACROD1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MACROD1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
MACROD1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROD1[gene]

- - Other 2014-03-07
MACROD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACROD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
MACROD1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MACROD1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MACROD1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACROD1
Admin
BRAINN
- - LOVD 3.X 2018-10-20
MACROD2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACROD2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
MACROD2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROD2[gene]

- - Other 2014-06-02
MACROD2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACROD2
Admin
BRAINN
- - LOVD 3.X 2018-10-06
MACROD2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/MACROD2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
MACROD2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACROD2
Admin
BRAINN
- - LOVD 3.X 2018-10-11
MACROD2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MACROD2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MACROD2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MACROD2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
MACROD2-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACROD2-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
MACROD2-AS1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACROD2-AS1
Admin
BRAINN
- - LOVD 3.X 2018-10-06
MACROD2-AS1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACROD2-AS1
Admin
BRAINN
- - LOVD 3.X 2018-10-11
MACROD2-AS1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MACROD2-AS1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MACROD2-IT1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACROD2-IT1
Admin
BRAINN
- - LOVD 3.X 2018-10-11
MACROD2-IT1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MACROD2-IT1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MAD1L1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAD1L1
Admin
BRAINN
- - LOVD 3.X 2018-11-15
MAD1L1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAD1L1
Admin
BRAINN
- - LOVD 3.X 2018-10-13
MAD1L1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAD1L1[gene]

- - Other 2014-09-01
MAD1L1 LOVD - Leiden Open Variation Database
https://cci.org/genes/MAD1L1
EasonTu
MTNC
- - LOVD 3.X 2017-07-11
MAD1L1 PharmGKB - Pharmacogenomics Knowledge Implementation
https://www.pharmgkb.org/search/browseAlpha.action?browseKey=variantAnnotatedGenes
PharmGKB Team
Shriram Center for Bioengineering and Chemical Engineering
- - Other Unknown
MAD1L1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAD1L1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-04-16
MAD1L1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MAD1L1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MAD1L1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MAD1L1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
MAD1L1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAD1L1
Admin
BRAINN
- - LOVD 3.X 2018-11-29
MAD2L1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAD2L1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
MAD2L1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAD2L1[gene]

- - Other 2014-03-07
MAD2L1 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAD2L1
Admin
BRAINN
- - LOVD 3.X 2018-11-22
MAD2L1 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAD2L1
Admin
BRAINN
- - LOVD 3.X 2018-12-07
MAD2L1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MAD2L1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
MAD2L1 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAD2L1
Admin
BRAINN
- - LOVD 3.X 2018-11-13
MAD2L1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MAD2L1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MAD2L1BP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAD2L1BP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
MAD2L1BP BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAD2L1BP
Admin
BRAINN
- - LOVD 3.X 2018-11-16
MAD2L1BP Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/MAD2L1BP
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
MAD2L1BP BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAD2L1BP
Admin
BRAINN
- - LOVD 3.X 2018-11-24
MAD2L1BP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAD2L1BP[gene]

- - Other 2014-03-07
MAD2L1BP BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/MAD2L1BP
Admin
BRAINN
- - LOVD 3.X 2017-10-26
MAD2L2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAD2L2
Arleen D. Auerbach (curator for FA)
Rockefeller University
- - LOVD 3.X 2016-10-10
MAD2L2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAD2L2[gene]

- - Other 2014-03-07
MAD2L2 BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAD2L2
Admin
BRAINN
- - LOVD 3.X 2018-10-18
MAD2L2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/MAD2L2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
MAD2L2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAD2L2
Admin
BRAINN
- - LOVD 3.X 2018-10-02
MAD2L2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAD2L2
Admin
BRAINN
- - LOVD 3.X 2018-09-27
MADCAM1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MADCAM1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
MADCAM1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MADCAM1[gene]

- - Other 2014-03-07
MADCAM1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/MADCAM1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
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