Locus Specific Mutation Databases

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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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11507 entries on 116 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
Not curated, does not accept submissions
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]
- - ClinVar 2020-02-03
M1AP BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/M1AP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/M1AP		 Admin
BRAINN		 - - 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		 - - 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 2019-12-04
M6PR BIPMed SNP Array - HG19
Not curated, does not accept submissions
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]
- - ClinVar 2019-10-01
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		 - - 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		 - - 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		 - - 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		 - - LOVD 3.X 2019-11-01
MAATS1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAATS1		 Admin
BRAINN		 - - 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		 - - LOVD 3.X 2019-11-01
MAATS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAATS1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-04
MAATS1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAATS1		 Admin
BRAINN		 - - 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		 - - 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 2019-12-06
MAB21L1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAB21L1[gene]
- - 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		 - - LOVD 3.X 2019-11-01
MAB21L2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MAB21L2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-06
MAB21L2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAB21L2[gene]
- - ClinVar 2020-02-03
MAB21L2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAB21L2		 Admin
BRAINN		 - - 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		 - - 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 2019-12-04
MAB21L3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
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]
- - ClinVar 2019-05-03
MAB21L3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAB21L3		 Admin
BRAINN		 - - 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		 - - 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		 - - LOVD 3.X 2019-11-01
MAB21L4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAB21L4[gene]
- - ClinVar 2019-10-01
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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACC1		 Admin
BRAINN		 - - 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		 - - LOVD 3.X 2018-10-09
MACC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACC1[gene]
- - ClinVar 2019-10-01
MACC1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MACC1		 Admin
BRAINN		 - - 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		 - - 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACC1-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
MACC1-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACC1-AS1[gene]
- - ClinVar 2019-02-25
MACC1-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MACC1-AS1		 Admin
BRAINN		 - - 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		 - - 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]
- - ClinVar 2020-01-06
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		 - - LOVD 3.X 2013-06-18
MACF1 Iran Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACF1		 Admin
BRAINN		 - - 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		 - - 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		 - - 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		 - - LOVD 3.X 2019-11-01
MACIR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACIR[gene]
- - ClinVar 2019-11-05
MACO1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACO1[gene]
- - ClinVar 2019-11-05
MACORIS ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACORIS[gene]
- - ClinVar 2019-02-25
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 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACROD1		 Admin
BRAINN		 - - 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		 - - LOVD 3.X 2013-06-13
MACROD1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROD1[gene]
- - ClinVar 2020-01-06
MACROD1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MACROD1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
MACROD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/MACROD1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
MACROD1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MACROD1		 Admin
BRAINN		 - - 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		 - - 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 2019-12-04
MACROD2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROD2[gene]
- - ClinVar 2020-01-06
MACROD2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACROD2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
MACROD2 Iran Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MACROD2		 Admin
BRAINN		 - - 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		 - - 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		 - - 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		 - - LOVD 3.X 2019-11-01
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 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROD2-AS1[gene]
- - ClinVar 2019-02-25
MACROD2-AS1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MACROD2-AS1		 Admin
BRAINN		 - - 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		 - - 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		 - - LOVD 3.X 2017-10-26
MACROD2-IT1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROD2-IT1[gene]
- - 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		 - - 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		 - - LOVD 3.X 2017-10-26
MACROH2A1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROH2A1[gene]
- - ClinVar 2020-01-06
MACROH2A2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MACROH2A2[gene]
- - ClinVar 2020-01-06
MAD1L1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAD1L1		 Admin
BRAINN		 - - 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		 - - LOVD 3.X 2018-10-13
MAD1L1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=MAD1L1[gene]
- - ClinVar 2020-01-06
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 2019-12-04
MAD1L1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/MAD1L1		 Admin
BRAINN		 - - 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		 - - 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		 - - LOVD 3.X 2019-11-01
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]
- - ClinVar 2020-01-06
MAD2L1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAD2L1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
MAD2L1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAD2L1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
MAD2L1 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAD2L1		 Admin
BRAINN		 - - LOVD 3.X 2018-11-13
MAD2L1 BIPMed SNP Array
Not curated, does not accept submissions
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 2019-12-04
MAD2L1BP BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/MAD2L1BP		 Admin
BRAINN		 - - LOVD 3.X 2018-11-16
MAD2L1BP BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/MAD2L1BP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
MAD2L1BP Iran Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/MAD2L1BP		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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