Locus Specific Mutation Databases

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12990 entries on 130 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
L1CAM BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L1CAM
Admin
BRAINN
- - LOVD 3.X 2018-12-13
L1CAM BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L1CAM
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L1CAM ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L1CAM[gene]

- - ClinVar 2019-09-02
L1CAM BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L1CAM
Admin
BRAINN
- - LOVD 3.X 2019-01-17
L1CAM L1CAM Mutation Web Page
http://www.l1cammutationdatabase.info
Yvonne Vos
University Medical Center Groningen, The Netherlands
- - Other Unknown
L1CAM Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L1CAM
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2019-07-12
L1CAM HSP Mutation Database
https://gwas.biosciencedbc.jp/cgi-bin/hvdb/hv_pos.cgi?gid=EG3897
Makiko Yoshida
Tokyo University Hospital, Tokyo University, and The central Research Laboratory of Hitachi Ltd.
- - Other 0000-00-00
L1CAM LOVD - Leiden Open Variation Database
http://grenada.lumc.nl/LOVD2/L1CAM/home.php?select_db=L1CAM
Yvonne Vos
University Medical Center Groningen
- - LOVD 2.X 2009-11-12
L1CAM BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L1CAM
Admin
BRAINN
- - LOVD 3.X 2018-11-17
L1CAM Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/L1CAM
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
L1TD1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L1TD1
Admin
BRAINN
- - LOVD 3.X 2018-09-30
L1TD1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L1TD1[gene]

- - ClinVar 2019-09-02
L1TD1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L1TD1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
L1TD1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L1TD1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L1TD1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L1TD1
Admin
BRAINN
- - LOVD 3.X 2018-10-03
L1TD1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L1TD1
Admin
BRAINN
- - LOVD 3.X 2018-10-20
L1TD1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L1TD1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L2HGDH LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L2HGDH
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
L2HGDH BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L2HGDH
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L2HGDH ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L2HGDH[gene]

- - ClinVar 2019-09-02
L2HGDH BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L2HGDH
Admin
BRAINN
- - LOVD 3.X 2018-10-14
L2HGDH BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L2HGDH
Admin
BRAINN
- - LOVD 3.X 2018-11-19
L2HGDH Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L2HGDH
Gajja Salomons & Eric Wever
Clinical Chemistry, Metabolic Unit
Amsterdam University Medical Center location VUmc
- - LOVD 3.X 2019-03-26
L2HGDH BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L2HGDH
Admin
BRAINN
- - LOVD 3.X 2018-12-21
L2HGDH LOVD - Leiden Open Variation Database
http://grenada.lumc.nl/LOVD2/vumc/home.php?select_db=L2HGDH
Gajja Salomons
Clinical Chemistry, Metabolic Unit, VUmc, Amsterdam
- - LOVD 2.X 2018-11-01
L3HYPDH BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L3HYPDH
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L3HYPDH ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3HYPDH[gene]

- - ClinVar 2019-03-05
L3HYPDH BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L3HYPDH
Admin
BRAINN
- - LOVD 3.X 2018-12-21
L3HYPDH BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3HYPDH
Admin
BRAINN
- - LOVD 3.X 2018-10-03
L3HYPDH BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3HYPDH
Admin
BRAINN
- - LOVD 3.X 2018-10-06
L3HYPDH Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3HYPDH
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L3MBTL1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L3MBTL1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3MBTL1
Admin
BRAINN
- - LOVD 3.X 2018-10-22
L3MBTL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL1[gene]

- - ClinVar 2019-03-05
L3MBTL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3MBTL1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3MBTL1
Admin
BRAINN
- - LOVD 3.X 2018-12-04
L3MBTL1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
L3MBTL1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L3MBTL1
Admin
BRAINN
- - LOVD 3.X 2019-01-15
L3MBTL2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L3MBTL2
Admin
BRAINN
- - LOVD 3.X 2019-01-16
L3MBTL2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L3MBTL2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L3MBTL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL2[gene]

- - ClinVar 2019-03-05
L3MBTL2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3MBTL2
Admin
BRAINN
- - LOVD 3.X 2018-10-11
L3MBTL2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3MBTL2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3MBTL2
Admin
BRAINN
- - LOVD 3.X 2018-10-06
L3MBTL2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-10
L3MBTL2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/L3MBTL2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
L3MBTL2-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL2-AS1[gene]

- - ClinVar 2019-08-28
L3MBTL3 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/L3MBTL3
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
L3MBTL3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3MBTL3
Admin
BRAINN
- - LOVD 3.X 2018-10-16
L3MBTL3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3MBTL3
Admin
BRAINN
- - LOVD 3.X 2018-10-09
L3MBTL3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L3MBTL3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L3MBTL3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL3[gene]

- - ClinVar 2019-05-03
L3MBTL3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L3MBTL3
Admin
BRAINN
- - LOVD 3.X 2018-11-27
L3MBTL3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3MBTL3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL3 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL3
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
L3MBTL4 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/L3MBTL4
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
L3MBTL4 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/L3MBTL4
Admin
BRAINN
- - LOVD 3.X 2018-10-09
L3MBTL4 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/L3MBTL4
Admin
BRAINN
- - LOVD 3.X 2017-10-26
L3MBTL4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL4[gene]

- - ClinVar 2019-03-05
L3MBTL4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/L3MBTL4
Admin
BRAINN
- - LOVD 3.X 2019-01-08
L3MBTL4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/L3MBTL4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
L3MBTL4 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/L3MBTL4
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-11
L3MBTL4 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/L3MBTL4
Admin
BRAINN
- - LOVD 3.X 2018-10-04
L3MBTL4-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=L3MBTL4-AS1[gene]

- - ClinVar 2019-02-25
LACC1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/LACC1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
LACC1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACC1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
LACC1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/LACC1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
LACC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACC1[gene]

- - ClinVar 2019-03-05
LACC1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/LACC1
Admin
BRAINN
- - LOVD 3.X 2018-12-19
LACC1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/LACC1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACC1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LACC1
Admin
BRAINN
- - LOVD 3.X 2018-10-02
LACC1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/LACC1
Admin
BRAINN
- - LOVD 3.X 2018-10-06
LACE1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACE1
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
LACE1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/LACE1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2019-07-12
LACE1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/LACE1
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
LACRT BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LACRT
Admin
BRAINN
- - LOVD 3.X 2018-10-15
LACRT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/LACRT
Admin
BRAINN
- - LOVD 3.X 2018-12-17
LACRT BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/LACRT
Admin
BRAINN
- - LOVD 3.X 2017-10-26
LACRT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACRT[gene]

- - ClinVar 2019-03-05
LACRT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/LACRT
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACRT BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/LACRT
Admin
BRAINN
- - LOVD 3.X 2018-11-20
LACTB LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACTB
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-12
LACTB ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACTB[gene]

- - ClinVar 2019-03-05
LACTB BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LACTB
Admin
BRAINN
- - LOVD 3.X 2018-10-13
LACTB BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/LACTB
Admin
BRAINN
- - LOVD 3.X 2017-10-26
LACTB BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/LACTB
Admin
BRAINN
- - LOVD 3.X 2018-11-15
LACTB BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/LACTB
Admin
BRAINN
- - LOVD 3.X 2018-12-26
LACTB Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/LACTB
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACTB2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/LACTB2
Admin
BRAINN
- - LOVD 3.X 2018-12-06
LACTB2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/LACTB2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
LACTB2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACTB2[gene]

- - ClinVar 2019-03-05
LACTB2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/LACTB2
Admin
BRAINN
- - LOVD 3.X 2018-10-19
LACTB2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/LACTB2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
LACTB2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/LACTB2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
LACTB2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LACTB2
Admin
BRAINN
- - LOVD 3.X 2018-10-10
LACTB2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/LACTB2
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
LACTB2-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=LACTB2-AS1[gene]

- - ClinVar 2019-02-25
LACTB2-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/LACTB2-AS1
Admin
BRAINN
- - LOVD 3.X 2018-10-19
LACTB2-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/LACTB2-AS1
Admin
BRAINN
- - LOVD 3.X 2018-07-20
LACTBL1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/LACTBL1
Admin
BRAINN
- - LOVD 3.X 2018-10-15
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