Locus Specific Mutation Databases

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 International Symposium on Variants in the Genome - Variant Detection 2020, Piran Slovenia
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1064 entries on 11 pages. Showing entries 1 - 100.
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AscendingSymbol     
Database name     
Curators     
Unique variants     
Linked diseases     
Software     
Last updated     
VAC14 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VAC14		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAC14 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VAC14		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VAC14 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VAC14		 Admin
BRAINN		 - - LOVD 3.X 2018-10-17
VAC14 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VAC14		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAC14 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VAC14		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
VAC14 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VAC14		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-12
VAC14 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAC14[gene]
- - ClinVar 2020-01-06
VAC14-AS1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VAC14-AS1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VAC14-AS1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VAC14-AS1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAC14-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAC14-AS1[gene]
- - ClinVar 2020-01-06
VAMP1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VAMP1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-01
VAMP1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VAMP1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VAMP1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VAMP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VAMP1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-13
VAMP1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VAMP1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-10-22
VAMP1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VAMP1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAMP1[gene]
- - ClinVar 2020-01-06
VAMP2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VAMP2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VAMP2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-10-11
VAMP2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAMP2[gene]
- - ClinVar 2019-10-01
VAMP2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VAMP2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-11
VAMP3 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VAMP3		 Admin
BRAINN		 - - LOVD 3.X 2018-09-27
VAMP3 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VAMP3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP3 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VAMP3		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
VAMP3 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VAMP3		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP3 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VAMP3		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
VAMP3 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VAMP3		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VAMP3 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAMP3[gene]
- - ClinVar 2019-08-05
VAMP4 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VAMP4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP4 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VAMP4		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VAMP4 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VAMP4		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP4 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VAMP4		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
VAMP4 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VAMP4		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
VAMP4 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VAMP4		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
VAMP4 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAMP4[gene]
- - ClinVar 2019-05-03
VAMP5 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VAMP5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP5 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VAMP5		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VAMP5 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VAMP5		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP5 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VAMP5		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
VAMP5 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VAMP5		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
VAMP5 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAMP5[gene]
- - ClinVar 2019-10-01
VAMP7 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VAMP7		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-08-17
VAMP7 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAMP7[gene]
- - ClinVar 2020-01-06
VAMP8 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VAMP8		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP8 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VAMP8		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VAMP8 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VAMP8		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAMP8 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VAMP8		 Admin
BRAINN		 - - LOVD 3.X 2018-10-05
VAMP8 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VAMP8		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-02
VAMP8 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VAMP8		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
VAMP8 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAMP8[gene]
- - ClinVar 2019-10-01
VANGL1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VANGL1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VANGL1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VANGL1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VANGL1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VANGL1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VANGL1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VANGL1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-18
VANGL1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VANGL1		 Admin
BRAINN		 - - LOVD 3.X 2018-09-30
VANGL1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VANGL1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
VANGL1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VANGL1[gene]
- - ClinVar 2020-01-06
VANGL2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VANGL2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VANGL2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VANGL2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VANGL2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VANGL2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VANGL2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VANGL2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-17
VANGL2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VANGL2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X Unknown
VANGL2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VANGL2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-02
VANGL2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VANGL2[gene]
- - ClinVar 2020-01-06
VAPA BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VAPA		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VAPA BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VAPA		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAPA BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VAPA		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAPA BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VAPA		 Admin
BRAINN		 - - LOVD 3.X 2018-10-12
VAPA Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VAPA		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-12-14
VAPA ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAPA[gene]
- - ClinVar 2019-03-05
VAPB BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VAPB		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VAPB BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VAPB		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAPB ALS Mutation Database
https://gwas.biosciencedbc.jp/cgi-bin/hvdb/hv_pos.cgi?gid=EG9217		 Makiko Yoshida
Tokyo University Hospital, Tokyo University, and The central Research Laboratory of Hitachi Ltd. 		- - Other 0000-00-00
VAPB LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VAPB		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-08-01
VAPB Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VAPB		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-12-07
VAPB BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VAPB		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VAPB BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VAPB		 Admin
BRAINN		 - - LOVD 3.X 2018-10-06
VAPB ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VAPB[gene]
- - ClinVar 2020-01-06
VAPB NDDVD - Neurodegenerative Diseases Variation Database
http://bioinf.suda.edu.cn/NDDvarbase/LOVDv.3.0/genes/VAPB		 Y Yang
SUDA		 - - LOVD 3.X 2017-04-19
VARS LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VARS		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
VARS Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/VARS		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-10
VARS Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VARS		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2018-01-13
VARS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VARS1[gene]
- - ClinVar 2020-01-06
VARS2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VARS2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VARS2 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VARS2[gene]
- - ClinVar 2019-09-02
VARS2 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VARS2		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-14
VARS2 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VARS2		 Admin
BRAINN		 - - LOVD 3.X 2018-10-16
VARS2 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VARS2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VARS2 Iran Variation Database
Not curated, does not accept submissions
http://genet.ir/variome/genes/VARS2		 Saeed Reza Ghaffari
Clinical Genetics Network		 - - LOVD 3.X 2015-12-11
VARS2 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VARS2		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2019-12-28
VASH1 BIPMed SNP Array - HG38
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_296/genes/VASH1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VASH1 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VASH1		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VASH1 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VASH1		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
VASH1 BIPMed SNP Array - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray_hg19/genes/VASH1		 Admin
BRAINN		 - - LOVD 3.X 2018-10-03
VASH1 Global Variome shared LOVD
https://databases.lovd.nl/shared/genes/VASH1		 LOVD-team, but with Curator vacancy
LUMC		 - - LOVD 3.X 2017-11-24
VASH1 LOVD - Leiden Open Variation Database
Not curated, does not accept submissions
http://proteomics.bio21.unimelb.edu.au/lovd/genes/VASH1		 Graham Taylor
University of Melbourne		 - - LOVD 3.X 2013-06-12
VASH1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VASH1[gene]
- - ClinVar 2020-01-06
VASH1-AS1 ClinVar at NCBI
https://www.ncbi.nlm.nih.gov/clinvar/?term=VASH1-AS1[gene]
- - ClinVar 2019-02-25
VASH2 BIPMed SNP Array
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/snparray/genes/VASH2		 Admin
BRAINN		 - - LOVD 3.X 2017-10-26
VASH2 BIPMed WES - HG19
Not curated, does not accept submissions
http://bipmed.iqm.unicamp.br/wes_hg19/genes/VASH2		 Admin
BRAINN		 - - LOVD 3.X 2019-11-01
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