Locus Specific Mutation Databases

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3225 entries on 33 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
R3HCC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=R3HCC1[gene]

- - Other 2014-03-07
R3HCC1 Shared database
https://databases.lovd.nl/shared/genes/R3HCC1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
R3HCC1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/R3HCC1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
R3HCC1L Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/R3HCC1L
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
R3HCC1L ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=R3HCC1L[gene]

- - Other 2014-03-07
R3HDM1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/R3HDM1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
R3HDM1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=R3HDM1[gene]

- - Other 2014-03-07
R3HDM1 Shared database
https://databases.lovd.nl/shared/genes/R3HDM1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
R3HDM1 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/R3HDM1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
R3HDM2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=R3HDM2[gene]

- - Other 2014-03-07
R3HDM2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/R3HDM2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
R3HDM2 Shared database
https://databases.lovd.nl/shared/genes/R3HDM2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
R3HDM2 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/R3HDM2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
R3HDM4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=R3HDM4[gene]

- - Other 2014-03-07
R3HDM4 Shared database
https://databases.lovd.nl/shared/genes/R3HDM4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
R3HDM4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/R3HDM4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
R3HDML Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/R3HDML
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
R3HDML Shared database
https://databases.lovd.nl/shared/genes/R3HDML
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
R3HDML LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/R3HDML
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
RAB10 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB10
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
RAB10 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB10[gene]

- - Other 2014-03-07
RAB10 Shared database
https://databases.lovd.nl/shared/genes/RAB10
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB11A ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB11A[gene]

- - Other 2014-03-07
RAB11A Shared database
https://databases.lovd.nl/shared/genes/RAB11A
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB11B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB11B[gene]

- - Other 2014-03-07
RAB11B Shared database
https://databases.lovd.nl/shared/genes/RAB11B
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB11B-AS1 Shared database
https://databases.lovd.nl/shared/genes/RAB11B-AS1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB11FIP1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB11FIP1[gene]

- - Other 2014-03-07
RAB11FIP1 Shared database
https://databases.lovd.nl/shared/genes/RAB11FIP1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-03-05
RAB11FIP1 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB11FIP1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
RAB11FIP2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB11FIP2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
RAB11FIP2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB11FIP2[gene]

- - Other 2014-03-07
RAB11FIP2 Shared database
https://databases.lovd.nl/shared/genes/RAB11FIP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB11FIP3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB11FIP3[gene]

- - Other 2014-03-07
RAB11FIP3 Shared database
https://databases.lovd.nl/shared/genes/RAB11FIP3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB11FIP3 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB11FIP3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
RAB11FIP4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB11FIP4[gene]

- - Other 2014-09-01
RAB11FIP4 Shared database
https://databases.lovd.nl/shared/genes/RAB11FIP4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB11FIP4 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB11FIP4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
RAB11FIP4 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/RAB11FIP4
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
RAB11FIP5 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/RAB11FIP5
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
RAB11FIP5 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB11FIP5
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
RAB11FIP5 Shared database
https://databases.lovd.nl/shared/genes/RAB11FIP5
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
RAB12 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB12[gene]

- - Other 2014-09-01
RAB12 Shared database
https://databases.lovd.nl/shared/genes/RAB12
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB13 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB13
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
RAB13 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB13[gene]

- - Other 2014-03-07
RAB13 Shared database
https://databases.lovd.nl/shared/genes/RAB13
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB13 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/RAB13
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
RAB14 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB14
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
RAB14 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB14[gene]

- - Other 2014-09-01
RAB14 Shared database
https://databases.lovd.nl/shared/genes/RAB14
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB15 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB15[gene]

- - Other 2014-03-07
RAB15 Shared database
https://databases.lovd.nl/shared/genes/RAB15
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB17 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB17
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
RAB17 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB17[gene]

- - Other 2014-03-07
RAB17 Shared database
https://databases.lovd.nl/shared/genes/RAB17
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB18 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB18
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
RAB18 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB18[gene]

- - Other 2014-08-07
RAB18 MRC Human Genetics Unit LOVD at MRC IGMM
http://lsdb.hgu.mrc.ac.uk/home.php?select_db=RAB18
Mark Handley & Graeme Grimes & Irene Aligianis
MRC Human Genetics Unit
- - LOVD 2.X 2013-05-10
RAB18 Shared database
https://databases.lovd.nl/shared/genes/RAB18
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-05-15
RAB19 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/RAB19
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
RAB19 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB19[gene]

- - Other 2014-03-07
RAB19 Shared database
https://databases.lovd.nl/shared/genes/RAB19
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB1A LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB1A
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
RAB1A ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB1A[gene]

- - Other 2014-03-07
RAB1A Shared database
https://databases.lovd.nl/shared/genes/RAB1A
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB1B LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB1B
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
RAB1B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB1B[gene]

- - Other 2014-03-07
RAB1B Shared database
https://databases.lovd.nl/shared/genes/RAB1B
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB20 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB20[gene]

- - Other 2014-06-02
RAB20 Shared database
https://databases.lovd.nl/shared/genes/RAB20
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB20 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB20
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
RAB21 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB21[gene]

- - Other 2014-03-07
RAB21 Shared database
https://databases.lovd.nl/shared/genes/RAB21
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB22A ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB22A[gene]

- - Other 2014-09-01
RAB22A LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB22A
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
RAB22A Shared database
https://databases.lovd.nl/shared/genes/RAB22A
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB23 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB23[gene]

- - Other 2014-03-07
RAB23 Mendelian genes
http://grenada.lumc.nl/LOVD2/mendelian_genes/home.php?select_db=RAB23
Andrew Wilkie
Weatherall Institute of Molecular Medicine
- - LOVD 2.X 2013-01-05
RAB23 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/RAB23
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-13
RAB23 Shared database
https://databases.lovd.nl/shared/genes/RAB23
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB24 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB24[gene]

- - Other 2014-09-01
RAB24 Shared database
https://databases.lovd.nl/shared/genes/RAB24
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB25 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB25
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
RAB25 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB25[gene]

- - Other 2014-06-02
RAB25 Shared database
https://databases.lovd.nl/shared/genes/RAB25
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB25 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/RAB25
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
RAB26 Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/RAB26
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
RAB26 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB26[gene]

- - Other 2014-03-07
RAB26 Shared database
https://databases.lovd.nl/shared/genes/RAB26
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB27A ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB27A[gene]

- - Other 2014-04-03
RAB27A RAB27Abase: Variation registry for Griscelli syndrome, type 2 (GS2)
http://structure.bmc.lu.se/idbase/RAB27Abase/
Mauno Vihinen, Univ. of Tampere, Tampere, Finland
- - MUTbase Unknown
RAB27A Mutations of the Small Nucleotide-binding Protein 27a Gene
http://www.retina-international.org/files/sci-news/rab27mut.htm
Retina International
- - None (static pages) Unknown
RAB27A Shared database
https://databases.lovd.nl/shared/genes/RAB27A
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
RAB27A **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
https://research.cchmc.org/LOVD2/home.php?select_db=RAB27A
Ammar Husami
Cincinnati Children's Hospital Medical Center
- - LOVD 2.X 2010-04-28
RAB27B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB27B[gene]

- - Other 2014-09-01
RAB27B LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/RAB27B
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
RAB27B Shared database
https://databases.lovd.nl/shared/genes/RAB27B
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
RAB28 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=RAB28[gene]

- - Other 2014-03-07
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