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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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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4257 entries on 43 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
KAAG1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KAAG1[gene]
- - ClinVar 2020-01-06
KAAG1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KAAG1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
KAAG1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KAAG1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KAL1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KAL1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
KAL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KAL1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-07-12
KALRN ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KALRN[gene]
- - ClinVar 2020-01-06
KALRN BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KALRN		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KALRN Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KALRN		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
KALRN BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KALRN		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KALRN BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KALRN		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KALRN LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KALRN		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
KALRN BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KALRN		 Admin
BRAINN		 - - LOVD 3.X 2018-10-07
KALRN Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/KALRN		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
KANK1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANK1[gene]
- - ClinVar 2020-01-06
KANK1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KANK1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-19
KANK1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KANK1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KANK1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KANK1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-10
KANK1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/KANK1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-12
KANK1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KANK1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-12
KANK1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KANK1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANK1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KANK1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANK2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KANK2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
KANK2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANK2[gene]
- - ClinVar 2020-01-06
KANK2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KANK2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
KANK2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/KANK2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
KANK2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KANK2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KANK2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KANK2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANK2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KANK2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANK2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KANK2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
KANK3 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KANK3		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
KANK3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANK3[gene]
- - ClinVar 2019-03-05
KANK3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KANK3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
KANK3 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/KANK3		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
KANK3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KANK3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KANK3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KANK3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANK3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KANK3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANK3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KANK3		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
KANK4 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KANK4		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
KANK4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANK4[gene]
- - ClinVar 2020-01-06
KANK4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KANK4		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
KANK4 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KANK4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANK4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KANK4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANK4 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KANK4		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KANK4 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/KANK4		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-13
KANK4 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KANK4		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
KANSL1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KANSL1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANSL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANSL1[gene]
- - ClinVar 2020-01-06
KANSL1 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/KANSL1		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
KANSL1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KANSL1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KANSL1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KANSL1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANSL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KANSL1		 Giuseppe Marangi
Università Cattolica del Sacro Cuore		 - - LOVD 3.X 2017-08-25
KANSL1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KANSL1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-04
KANSL1-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KANSL1-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANSL1-AS1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KANSL1-AS1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
KANSL1-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KANSL1-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KANSL1-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANSL1-AS1[gene]
- - ClinVar 2019-05-03
KANSL1-AS1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KANSL1-AS1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
KANSL1L LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KANSL1L		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
KANSL1L ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANSL1L[gene]
- - ClinVar 2020-01-06
KANSL1L BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KANSL1L		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANSL1L Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KANSL1L		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
KANSL1L BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KANSL1L		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KANSL1L BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KANSL1L		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
KANSL1L BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KANSL1L		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANSL1L-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANSL1L-AS1[gene]
- - ClinVar 2020-01-06
KANSL2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KANSL2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANSL2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KANSL2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2014-11-08
KANSL2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KANSL2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KANSL2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KANSL2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANSL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANSL2[gene]
- - ClinVar 2020-01-06
KANSL2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KANSL2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
KANSL2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KANSL2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-02
KANSL3 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KANSL3		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
KANSL3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANSL3[gene]
- - ClinVar 2019-10-01
KANSL3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KANSL3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANSL3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KANSL3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
KANSL3 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/KANSL3		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
KANSL3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KANSL3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KANSL3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KANSL3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KANSL3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KANSL3		 Admin
BRAINN		 - - LOVD 3.X 2018-11-17
KANTR BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KANTR		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KANTR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KANTR[gene]
- - ClinVar 2019-03-05
KARS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KARS		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-12-08
KARS BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KARS		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
KARS LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KARS		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-02
KARS Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/KARS		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
KARS BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/KARS		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
KARS BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KARS		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KARS BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KARS		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KARS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KARS1[gene]
- - ClinVar 2020-01-06
KAT14 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KAT14[gene]
- - ClinVar 2020-01-06
KAT2A ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KAT2A[gene]
- - ClinVar 2020-01-06
KAT2A Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KAT2A		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
KAT2A LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/KAT2A		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
KAT2A BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KAT2A		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KAT2B ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=KAT2B[gene]
- - ClinVar 2020-01-06
KAT2B BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/KAT2B		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KAT2B BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/KAT2B		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
KAT2B Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/KAT2B		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
KAT2B BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/KAT2B		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
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