Locus Specific Mutation Databases

Information If you know of an LSDB, which is not included in this list, you can submit it here.

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Course: NGS in diagnostics, Sao Paulo, 26-29 november 2018
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3209 entries on 33 pages. Showing entries 1 - 100.
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AscendingSymbol     

Database name     

Curators     

Unique variants     

Linked diseases     

Software     

Last updated     
H19 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H19
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
H19 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H19
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2017-09-08
H19 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H19[gene]

- - Other 2014-03-07
H1F0 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H1F0
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-08-02
H1F0 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1F0[gene]

- - Other 2014-03-07
H1F0 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H1F0
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H1FNT Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/H1FNT
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
H1FNT LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H1FNT
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
H1FNT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H1FNT
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H1FOO Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H1FOO
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H1FOO BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/H1FOO
Admin
BRAINN
- - LOVD 3.X 2017-10-26
H1FOO ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1FOO[gene]

- - Other 2014-03-07
H1FOO LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H1FOO
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-17
H1FX Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H1FX
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H1FX Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/H1FX
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-14
H2AFB1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFB1
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-12-16
H2AFB1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AFB1[gene]

- - Other 2014-09-01
H2AFB2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFB2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-12-16
H2AFB2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AFB2[gene]

- - Other 2014-09-01
H2AFB3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFB3
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-12-16
H2AFB3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AFB3[gene]

- - Other 2014-09-01
H2AFJ Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFJ
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H2AFJ LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H2AFJ
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
H2AFJ ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AFJ[gene]

- - Other 2014-09-01
H2AFV Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFV
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2014-07-25
H2AFV BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/H2AFV
Admin
BRAINN
- - LOVD 3.X 2018-10-14
H2AFV LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H2AFV
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
H2AFV BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/H2AFV
Admin
BRAINN
- - LOVD 3.X 2017-10-26
H2AFV ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AFV[gene]

- - Other 2014-03-07
H2AFX Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFX
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H2AFX ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AFX[gene]

- - Other 2014-03-07
H2AFX Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/H2AFX
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-11
H2AFY Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFY
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H2AFY BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/H2AFY
Admin
BRAINN
- - LOVD 3.X 2018-10-08
H2AFY BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/H2AFY
Admin
BRAINN
- - LOVD 3.X 2018-10-14
H2AFY BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/H2AFY
Admin
BRAINN
- - LOVD 3.X 2017-10-26
H2AFY LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H2AFY
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-15
H2AFY ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AFY[gene]

- - Other 2014-03-07
H2AFY2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFY2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H2AFY2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/H2AFY2
Admin
BRAINN
- - LOVD 3.X 2018-10-04
H2AFY2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H2AFY2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
H2AFY2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/H2AFY2
Admin
BRAINN
- - LOVD 3.X 2018-10-01
H2AFY2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/H2AFY2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
H2AFY2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AFY2[gene]

- - Other 2014-06-02
H2AFZ Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFZ
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H2AFZ ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AFZ[gene]

- - Other 2014-03-07
H2BFM Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2BFM
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
H2BFM LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H2BFM
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
H2BFM BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/H2BFM
Admin
BRAINN
- - LOVD 3.X 2017-10-26
H2BFM ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BFM[gene]

- - Other 2014-09-01
H2BFWT Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2BFWT
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2018-08-17
H2BFWT BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/H2BFWT
Admin
BRAINN
- - LOVD 3.X 2018-10-16
H2BFWT LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H2BFWT
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-14
H2BFWT BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/H2BFWT
Admin
BRAINN
- - LOVD 3.X 2017-10-26
H2BFWT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BFWT[gene]

- - Other 2014-09-01
H2BFWT Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/H2BFWT
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-12
H2BFXP Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2BFXP
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
H3F3A Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H3F3A
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2016-11-18
H3F3A BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H3F3A
Admin
BRAINN
- - LOVD 3.X 2018-10-21
H3F3A BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/H3F3A
Admin
BRAINN
- - LOVD 3.X 2017-10-26
H3F3A ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H3F3A[gene]

- - Other 2014-03-07
H3F3AP4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H3F3AP4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H3F3B Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H3F3B
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H3F3B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H3F3B[gene]

- - Other 2014-03-07
H3F3C Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H3F3C
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H3F3C Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/H3F3C
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
H3F3C LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H3F3C
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
H3F3C BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/H3F3C
Admin
BRAINN
- - LOVD 3.X 2018-10-05
H3F3C BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/H3F3C
Admin
BRAINN
- - LOVD 3.X 2018-10-02
H3F3C BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/H3F3C
Admin
BRAINN
- - LOVD 3.X 2017-10-26
H3F3C ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H3F3C[gene]

- - Other 2014-09-01
H6PD Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H6PD
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
H6PD BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/H6PD
Admin
BRAINN
- - LOVD 3.X 2018-10-02
H6PD Iran Variation Database
Does not accept submissions
http://genet.ir/variome/genes/H6PD
Saeed Reza Ghaffari
Clinical Genetics Network
- - LOVD 3.X 2015-12-10
H6PD BIPMed WES - HG19
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H6PD
Admin
BRAINN
- - LOVD 3.X 2018-10-18
H6PD BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/H6PD
Admin
BRAINN
- - LOVD 3.X 2018-09-27
H6PD ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H6PD[gene]

- - Other 2014-03-07
H6PD LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H6PD
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
HAAO Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/HAAO
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
HAAO BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/HAAO
Admin
BRAINN
- - LOVD 3.X 2018-10-09
HAAO LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/HAAO
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-18
HAAO BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/HAAO
Admin
BRAINN
- - LOVD 3.X 2018-10-05
HAAO BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/HAAO
Admin
BRAINN
- - LOVD 3.X 2017-10-26
HAAO ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=HAAO[gene]

- - Other 2014-03-07
HABP2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/HABP2
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X 2015-10-24
HABP2 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/HABP2
Admin
BRAINN
- - LOVD 3.X 2018-10-04
HABP2 LOVD - Leiden Open Variation Database
Does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/HABP2
Graham Taylor
University of Melbourne
- - LOVD 3.X 2013-06-13
HABP2 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/HABP2
Admin
BRAINN
- - LOVD 3.X 2018-10-01
HABP2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/HABP2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
HABP2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=HABP2[gene]

- - Other 2014-06-02
HABP4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/HABP4
LOVD-team, but with Curator vacancy
LUMC
- - LOVD 3.X Unknown
HABP4 BIPMed SNP Array - HG19
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/HABP4
Admin
BRAINN
- - LOVD 3.X 2018-10-11
HABP4 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/HABP4
Admin
BRAINN
- - LOVD 3.X 2017-10-26
HABP4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=HABP4[gene]

- - Other 2014-09-01
HACD1 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/HACD1
Admin
BRAINN
- - LOVD 3.X 2017-10-26
HACD2 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/HACD2
Admin
BRAINN
- - LOVD 3.X 2017-10-26
HACD3 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/HACD3
Admin
BRAINN
- - LOVD 3.X 2018-10-06
HACD3 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/HACD3
Admin
BRAINN
- - LOVD 3.X 2017-10-26
HACD4 BIPMed SNP Array
http://bipmed.iqm.unicamp.br/snparray/genes/HACD4
Admin
BRAINN
- - LOVD 3.X 2017-10-26
HACD4 BIPMed SNP Array - HG38
http://bipmed.iqm.unicamp.br/snparray_296/genes/HACD4
Admin
BRAINN
- - LOVD 3.X 2018-10-20
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