Locus Specific Mutation Databases

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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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4117 entries on 42 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
H1-0 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1-0[gene]
- - ClinVar 2019-10-01
H1-1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1-1[gene]
- - ClinVar 2019-10-01
H1-10 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1-10[gene]
- - ClinVar 2019-07-31
H1-2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1-2[gene]
- - ClinVar 2019-10-01
H1-3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1-3[gene]
- - ClinVar 2019-10-01
H1-4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1-4[gene]
- - ClinVar 2019-10-01
H1-5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1-5[gene]
- - ClinVar 2019-07-31
H1-6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1-6[gene]
- - ClinVar 2019-10-01
H1-7 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1-7[gene]
- - ClinVar 2019-07-31
H1-8 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1-8[gene]
- - ClinVar 2019-07-31
H19 LOVD - Leiden Open Variation Database
Not curated, 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 2018-11-03
H19 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H19[gene]
- - ClinVar 2019-05-03
H19-ICR ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H19-ICR[gene]
- - ClinVar 2019-02-25
H1F0 LOVD - Leiden Open Variation Database
Not curated, 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 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H1F0		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H1F0 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H1F0		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
H1FNT BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H1FNT		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H1FNT Iran Variation Database
Not curated, 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
Not curated, 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 - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/H1FOO		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H1FOO BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/H1FOO		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
H1FOO BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/H1FOO		 Admin
BRAINN		 - - LOVD 3.X 2018-11-09
H1FOO LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H1FOO		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-17
H1FOO BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H1FOO		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H1FX BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H1FX		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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
Not curated, does not accept submissions
http://genet.ir/variome/genes/H1FX		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-14
H1FX-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H1FX-AS1[gene]
- - ClinVar 2019-02-25
H2AB1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AB1[gene]
- - ClinVar 2019-11-05
H2AB2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AB2[gene]
- - ClinVar 2019-11-05
H2AB3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AB3[gene]
- - ClinVar 2019-11-05
H2AC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC1[gene]
- - ClinVar 2019-07-31
H2AC11 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC11[gene]
- - ClinVar 2019-07-31
H2AC12 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC12[gene]
- - ClinVar 2019-07-31
H2AC13 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC13[gene]
- - ClinVar 2019-07-31
H2AC14 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC14[gene]
- - ClinVar 2019-07-31
H2AC15 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC15[gene]
- - ClinVar 2019-07-31
H2AC16 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC16[gene]
- - ClinVar 2019-07-31
H2AC17 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC17[gene]
- - ClinVar 2019-07-31
H2AC18 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC18[gene]
- - ClinVar 2019-07-31
H2AC19 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC19[gene]
- - ClinVar 2019-07-31
H2AC20 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC20[gene]
- - ClinVar 2019-07-31
H2AC21 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC21[gene]
- - ClinVar 2019-07-31
H2AC4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC4[gene]
- - ClinVar 2019-10-01
H2AC6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC6[gene]
- - ClinVar 2019-10-01
H2AC7 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC7[gene]
- - ClinVar 2019-10-01
H2AC8 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AC8[gene]
- - ClinVar 2019-10-01
H2AFB1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFB1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-08-05
H2AFB2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFB2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-08-05
H2AFB3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFB3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-08-05
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
Not curated, 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 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H2AFJ		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/H2AFV		 Admin
BRAINN		 - - LOVD 3.X 2018-10-14
H2AFV BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/H2AFV		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H2AFV LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/H2AFV		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
H2AFV BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H2AFV		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H2AFX Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFX		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
H2AFX BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H2AFX		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H2AFX Iran Variation Database
Not curated, 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 2018-12-27
H2AFY BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H2AFY		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H2AFY BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/H2AFY		 Admin
BRAINN		 - - LOVD 3.X 2018-10-08
H2AFY BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/H2AFY		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H2AFY BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/H2AFY		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
H2AFY LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/H2AFY		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-15
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 WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H2AFY2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H2AFY2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/H2AFY2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H2AFY2 LOVD - Leiden Open Variation Database
Not curated, 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
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/H2AFY2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
H2AFY2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/H2AFY2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
H2AFZ Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/H2AFZ		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
H2AFZ BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/H2AFZ		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
H2AJ ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AJ[gene]
- - ClinVar 2019-10-01
H2AP ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AP[gene]
- - ClinVar 2019-12-02
H2AW ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AW[gene]
- - ClinVar 2019-10-01
H2AX ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AX[gene]
- - ClinVar 2019-10-01
H2AZ1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AZ1[gene]
- - ClinVar 2019-07-31
H2AZ1-DT ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AZ1-DT[gene]
- - ClinVar 2019-08-15
H2AZ2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2AZ2[gene]
- - ClinVar 2019-10-01
H2BC1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC1[gene]
- - ClinVar 2019-07-31
H2BC10 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC10[gene]
- - ClinVar 2019-10-01
H2BC11 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC11[gene]
- - ClinVar 2019-07-31
H2BC12 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC12[gene]
- - ClinVar 2019-07-31
H2BC13 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC13[gene]
- - ClinVar 2019-07-31
H2BC14 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC14[gene]
- - ClinVar 2019-07-31
H2BC15 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC15[gene]
- - ClinVar 2019-07-31
H2BC17 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC17[gene]
- - ClinVar 2019-07-31
H2BC18 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC18[gene]
- - ClinVar 2019-11-05
H2BC21 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC21[gene]
- - ClinVar 2019-07-31
H2BC3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC3[gene]
- - ClinVar 2019-10-01
H2BC4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC4[gene]
- - ClinVar 2019-10-01
H2BC5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC5[gene]
- - ClinVar 2019-10-01
H2BC6 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=H2BC6[gene]
- - ClinVar 2019-10-01
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