Locus Specific Mutation Databases

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1111 entries on 12 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Software     

Last updated     
B2M ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B2M[gene]

Other 2014-03-07
B2M LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B2M

LOVD 3.X Unknown
B3GALNT1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GALNT1

LOVD 3.X Unknown
B3GALNT1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GALNT1[gene]

Other 2014-03-07
B3GALNT1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GALNT1

LOVD 3.X Unknown
B3GALNT2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GALNT2

LOVD 3.X Unknown
B3GALNT2 Leiden Muscular Dystrophy pages
http://www.dmd.nl/nmdb2/home.php?select_db=B3GALNT2
Johan den Dunnen
private
LOVD 2.X 2013-07-28
B3GALNT2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GALNT2[gene]

Other 2014-08-07
B3GALNT2 The Genetic Eye Disorder (GEDI) Variation Database
http://mseqdr.lumc.edu/GEDI/genes/B3GALNT2
Lishuang Shen
MEEI
LOVD 3.X 2013-11-19
B3GALNT2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GALNT2

LOVD 3.X Unknown
B3GALT1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GALT1

LOVD 3.X Unknown
B3GALT1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GALT1[gene]

Other 2014-06-02
B3GALT1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GALT1

LOVD 3.X Unknown
B3GALT2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GALT2[gene]

Other 2014-03-07
B3GALT2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GALT2

LOVD 3.X Unknown
B3GALT4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GALT4

LOVD 3.X Unknown
B3GALT5 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GALT5

LOVD 3.X Unknown
B3GALT5 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GALT5[gene]

Other 2014-03-07
B3GALT5 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GALT5

LOVD 3.X Unknown
B3GALT6 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GALT6[gene]

Other 2014-03-07
B3GALT6 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GALT6

LOVD 3.X Unknown
B3GALTL LOVD - Leiden Open Variation Database
http://chromium.liacs.nl/LOVD2/home.php?select_db=B3GALTL
Martine van Belzen
Clinical Genetics, LUMC, Leiden
LOVD 2.X 2011-08-26
B3GALTL ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GALTL[gene]

Other 2014-03-07
B3GALTL LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GALTL

LOVD 3.X Unknown
B3GALTL LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GALTL

LOVD 3.X Unknown
B3GAT1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GAT1[gene]

Other 2014-03-07
B3GAT1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GAT1

LOVD 3.X Unknown
B3GAT2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GAT2

LOVD 3.X Unknown
B3GAT3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GAT3

LOVD 3.X Unknown
B3GAT3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GAT3[gene]

Other 2014-06-02
B3GAT3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GAT3

LOVD 3.X Unknown
B3GNT1 Leiden Muscular Dystrophy pages
http://www.dmd.nl/nmdb2/home.php?select_db=B3GNT1
Johan den Dunnen
private
LOVD 2.X 2013-04-02
B3GNT1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GNT1[gene]

Other 2014-03-07
B3GNT1 The Genetic Eye Disorder (GEDI) Variation Database
http://mseqdr.lumc.edu/GEDI/genes/B3GNT1
Lishuang Shen
MEEI
LOVD 3.X 2013-11-19
B3GNT1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GNT1

LOVD 3.X Unknown
B3GNT2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GNT2[gene]

Other 2014-03-07
B3GNT2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GNT2

LOVD 3.X Unknown
B3GNT3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GNT3

LOVD 3.X Unknown
B3GNT3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GNT3[gene]

Other 2014-03-07
B3GNT3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GNT3

LOVD 3.X Unknown
B3GNT4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GNT4

LOVD 3.X Unknown
B3GNT4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GNT4

LOVD 3.X Unknown
B3GNT4 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GNT4[gene]

Other 2014-03-07
B3GNT5 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GNT5

LOVD 3.X Unknown
B3GNT5 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GNT5

LOVD 3.X Unknown
B3GNT5 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GNT5[gene]

Other 2014-03-07
B3GNT6 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GNT6

LOVD 3.X Unknown
B3GNT6 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GNT6

LOVD 3.X Unknown
B3GNT6 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GNT6[gene]

Other 2014-03-07
B3GNT7 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GNT7

LOVD 3.X Unknown
B3GNT7 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GNT7[gene]

Other 2014-03-07
B3GNT8 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GNT8

LOVD 3.X Unknown
B3GNT8 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GNT8

LOVD 3.X Unknown
B3GNT8 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GNT8[gene]

Other 2014-03-07
B3GNT9 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GNT9

LOVD 3.X Unknown
B3GNT9 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GNT9[gene]

Other 2014-03-07
B3GNTL1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B3GNTL1

LOVD 3.X Unknown
B3GNTL1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B3GNTL1

LOVD 3.X Unknown
B3GNTL1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B3GNTL1[gene]

Other 2014-06-02
B4GALNT1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALNT1

LOVD 3.X Unknown
B4GALNT1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B4GALNT1

LOVD 3.X Unknown
B4GALNT1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALNT1[gene]

Other 2014-03-07
B4GALNT2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALNT2

LOVD 3.X Unknown
B4GALNT2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B4GALNT2

LOVD 3.X Unknown
B4GALNT2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALNT2[gene]

Other 2014-03-07
B4GALNT3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALNT3

LOVD 3.X Unknown
B4GALNT3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B4GALNT3

LOVD 3.X Unknown
B4GALNT3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALNT3[gene]

Other 2014-06-02
B4GALNT4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALNT4

LOVD 3.X Unknown
B4GALNT4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B4GALNT4

LOVD 3.X Unknown
B4GALNT4 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALNT4[gene]

Other 2014-03-07
B4GALT1 Congenital Disorders of Glycosylation pages
http://www.euroglycanet.org/
Gert Matthijs
Center for Human Genetics Leuven, Belgium
Unknown Unknown
B4GALT1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B4GALT1

LOVD 3.X Unknown
B4GALT1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALT1[gene]

Other 2014-03-07
B4GALT1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALT1

LOVD 3.X Unknown
B4GALT2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALT2

LOVD 3.X Unknown
B4GALT2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B4GALT2

LOVD 3.X Unknown
B4GALT2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALT2[gene]

Other 2014-03-07
B4GALT3 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALT3

LOVD 3.X Unknown
B4GALT3 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALT3[gene]

Other 2014-06-02
B4GALT4 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALT4

LOVD 3.X Unknown
B4GALT4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B4GALT4

LOVD 3.X Unknown
B4GALT4 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALT4[gene]

Other 2014-03-07
B4GALT5 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALT5

LOVD 3.X Unknown
B4GALT5 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B4GALT5

LOVD 3.X Unknown
B4GALT5 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALT5[gene]

Other 2014-03-07
B4GALT6 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALT6

LOVD 3.X Unknown
B4GALT6 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B4GALT6

LOVD 3.X Unknown
B4GALT6 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALT6[gene]

Other 2014-03-07
B4GALT7 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B4GALT7

LOVD 3.X Unknown
B4GALT7 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B4GALT7

LOVD 3.X Unknown
B4GALT7 Ehlers Danlos Syndrome Variant Database
https://eds.gene.le.ac.uk/home.php?select_db=B4GALT7
Adam McDonnell & Raymond Dalgleish
University of Leicester
LOVD 2.X 2014-04-25
B4GALT7 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B4GALT7[gene]

Other 2014-03-07
B9D1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B9D1

LOVD 3.X Unknown
B9D1 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B9D1

LOVD 3.X Unknown
B9D1 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B9D1[gene]

Other 2014-03-07
B9D2 LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/B9D2

LOVD 3.X Unknown
B9D2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/B9D2

LOVD 3.X Unknown
B9D2 ClinVar at NCBI
http://ncbi.nlm.nih.gov/clinvar/?term=B9D2[gene]

Other 2014-03-07
BAALC LOVD 3.0 shared installation
http://databases.lovd.nl/shared/genes/BAALC

LOVD 3.X Unknown
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