| In total: 2,535,840 variants (2,126,882 unique) in 172,602 individuals in 47570 genes in 89 LOVD installations. |
| http://databases.lovd.nl/whole_genome/ |
LOVD 3.0-04 |
22002 genes |
1998204 variants |
| Whole genome datasets |
A1BG,A1BG-AS1,A1CF,A2M,A2M-AS1,A2ML1,... |
1990829 unique |
| http://mitolsdb.igib.res.in/ |
LOVD 2.0-31 |
37 genes |
142495 variants |
| mitolsdb |
MTATP6,MTATP8,MTCO1,MTCO2,MTCO3,MTCYB... |
5170 unique |
| http://www.dmd.nl/nmdb2/ |
LOVD 2.0-35 |
157 genes |
80459 variants |
| Leiden Muscular Dystrophy pages |
ACTA1,ACTC1,AGRN,ANKRD1,ANO5,ARHGEF10... |
13456 unique |
| http://grenada.lumc.nl/LOVD2/mendelian_genes/ |
LOVD 2.0-35 |
1873 genes |
48772 variants |
| Mendelian genes |
A2M,A4GALT,AAAS,AANAT,AASS,ABAT,ABCA1... |
7973 unique |
| http://grenada.lumc.nl/LOVD2/MR/ |
LOVD 2.0-35 |
519 genes |
29055 variants |
| X-chromosome gene database |
ABCB7,ABCD1,ACE2,ACOT9,ACSL4,ACTRT1,A... |
4306 unique |
| http://chromium.liacs.nl/LOVD2/colon_cancer/ |
LOVD 2.0-35 |
11 genes |
27443 variants |
| Colon cancer gene variant databases |
APC,CDH1,EPCAM,GALNT12,MLH1,MLH3,MSH2... |
4541 unique |
| http://databases.lovd.nl/shared/ |
LOVD 3.0-04 |
22033 genes |
27007 variants |
| LOVD 3.0 shared installation |
A1BG,A1BG-AS1,A1CF,A2LD1,A2M,A2M-AS1,... |
15786 unique |
| http://HCI-LOVD.hci.utah.edu |
LOVD 2.0-33 |
4 genes |
26458 variants |
| LOVD - human mismatch repair genes |
MLH1,MSH2,MSH6,PMS2 |
25869 unique |
| https://grenada.lumc.nl/LOVD2/Usher_montpellier/ |
LOVD 2.0-35 |
15 genes |
19304 variants |
| Retinal and hearing impairment genetic mutation database |
CDH23,CHM,CLRN1,GPR98,MYO15A,MYO7A,OT... |
2536 unique |
| http://databases.lovd.nl/genomed/ |
LOVD 2.0-34 |
82 genes |
15397 variants |
| Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) |
ABCC9,ACTC1,ACTN2,AKAP9,ANK2,AXIN2,BA... |
9230 unique |
| http://www.genomed.org/lovd2/ |
LOVD 2.0-35 |
91 genes |
14663 variants |
| Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) |
ABCC9,ACTC1,ACTN2,AKAP9,ANK2,APC,AXIN... |
9149 unique |
| http://grenada.lumc.nl/LOVD2/diabetes/ |
LOVD 2.0-35 |
3 genes |
9687 variants |
| Monogenic Diabetes |
GCK,HNF1A,HNF4A |
695 unique |
| http://ccg.murdoch.edu.au/thalind/ |
LOVD 2.0-28 |
1 gene |
9545 variants |
| ThalInd - A Database of beta thalassemia and hemoglobinopathies in India |
HBB |
61 unique |
| http://chromium.liacs.nl/LOVD2/ |
LOVD 2.0-35 |
38 genes |
9456 variants |
| LOVD - Leiden Open Variation Database |
ABCA13,ADAR,ARG1,ASL,ASS1,ATM,ATP1A2,... |
3411 unique |
| http://chromium.liacs.nl/LOVD2/TSC/ |
LOVD 2.0-35 |
2 genes |
9071 variants |
| Tuberous sclerosis database |
TSC1,TSC2 |
2294 unique |
| http://grenada.lumc.nl/LOVD2/eye/ |
LOVD 2.0-35 |
208 genes |
9033 variants |
| Eye diseases - LOVD |
ABCA4,ABCB5,ABCC6,ABHD12,ACBD5,ADAM9,... |
1743 unique |
| https://grenada.lumc.nl/LOVD2/shared1/ |
LOVD 2.0-35 |
133 genes |
5867 variants |
| LOVD - Leiden Open Variation Database |
AARS,ACO2,ACP5,AGK,ALG11,ANKH,ARID1A,... |
1468 unique |
| https://research.cchmc.org/LOVD2/ |
LOVD 2.0-34 |
47 genes |
4561 variants |
| **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database |
ABCB11,ABCB4,ACADM,ACADVL,ATP8B1,CASP... |
4286 unique |
| http://rb1-lovd.d-lohmann.de/ |
LOVD 2.0-34 |
1 gene |
3079 variants |
| rb1-lsdb |
RB1 |
1516 unique |
| http://www.genomed.org/LOVD/LQTs/ |
LOVD 2.0-12 |
12 genes |
2985 variants |
| Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) |
AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,K... |
1741 unique |
| https://lovd.euro-wabb.org/ |
LOVD 2.0-30 |
22 genes |
2779 variants |
| EURO-WABB PROJECT OPEN VARIATION DATABASE |
ALMS1,ARL6,BBS1,BBS10,BBS12,BBS2,BBS4... |
837 unique |
| http://chromium.liacs.nl/LOVD2/cancer/ |
LOVD 2.0-35 |
2 genes |
2649 variants |
| LOVD - Leiden Open Variation Database |
BRCA1,BRCA2 |
1037 unique |
| https://oi.gene.le.ac.uk/ |
LOVD 2.0-35 |
14 genes |
2528 variants |
| Osteogenesis Imperfecta Variant Database |
BMP1,COL1A1,COL1A2,CRTAP,FKBP10,IFITM... |
1407 unique |
| http://chromium.liacs.nl/LOVD2/FANC/ |
LOVD 2.0-35 |
15 genes |
2475 variants |
| Fanconi anemia database |
FANCA,FANCB,FANCC,FANCD1,FANCD2,FANCE... |
797 unique |
| http://grenada.lumc.nl/LOVD2/COL4A/ |
LOVD 2.0-35 |
4 genes |
2281 variants |
| Collagen, type IV, alpha |
COL4A3,COL4A4,COL4A5,COL4A6 |
1191 unique |
| http://grenada.lumc.nl/LOVD2/PKD/ |
LOVD 2.0-35 |
2 genes |
2156 variants |
| Autosomal Dominant Polycystic Kidney Disease (ADPKD) |
PKD1,PKD2 |
76 unique |
| http://lovd.bx.psu.edu/ |
LOVD 2.0-35 |
37 genes |
2053 variants |
| The Globin Gene Server |
ALOX5AP,AQP9,ARG2,ASS1,ATRX,BCL11A,CN... |
1996 unique |
| http://grenada.lumc.nl/LOVD2/VWF/ |
LOVD 2.0-35 |
4 genes |
1965 variants |
| ISTH-SSC VWF Online Database |
F8,F9,GP1BA,VWF |
632 unique |
| http://www.ucl.ac.uk/ldlr/Current/ |
LOVD 1.1.0-12 |
3 genes |
1943 variants |
| British Heart Foundation |
LDLR,LDLRAP1,PCSK9 |
1255 unique |
| http://grenada.lumc.nl/LOVD2/vumc/ |
LOVD 2.0-35 |
7 genes |
1867 variants |
| LOVD - Leiden Open Variation Database |
ALDH5A1,ASPA,D2HGDH,GAMT,GATM,L2HGDH,... |
356 unique |
| http://lsdb.hgu.mrc.ac.uk/ |
LOVD 2.0-30 |
11 genes |
1563 variants |
| MRC Human Genetics Unit LOVD at MRC IGMM |
MLYCD,NIPBL,OTX2,PAX6,RAB18,RAB3GAP1,... |
933 unique |
| http://grenada.lumc.nl/LOVD2/CDLS/ |
LOVD 2.0-35 |
5 genes |
1440 variants |
| LOVD - Leiden Open Variation Database |
NIPBL,PDS5A,PDS5B,SMC1A,SMC3 |
314 unique |
| http://grenada.lumc.nl/LOVD2/ARVC/ |
LOVD 2.0-35 |
8 genes |
1129 variants |
| ARVD/C Genetic Variants Database |
DSC2,DSG2,DSP,JUP,PKP2,TGFB3,TMEM43,TP63 |
605 unique |
| http://medgen.ugent.be/LOVD2/ |
LOVD 2.0-09 |
6 genes |
1118 variants |
| LOVD - Center for Medical Genetics, Ghent, Belgium |
COL2A1,FOXL2,NF1_germline,NF1_somatic... |
694 unique |
| http://grenada.lumc.nl/LOVD2/TPI/ |
LOVD 2.0-35 |
6 genes |
1115 variants |
| Parkinson's disease Mutation Database |
LRRK2,PARK11,PARK2,PARK7,PINK1,SNCA |
981 unique |
| http://medgen.ua.ac.be/LOVDv.2.0/ |
LOVD 2.0-33 |
2 genes |
1098 variants |
| Multiple Osteochondroma Mutation Database |
EXT1,EXT2 |
654 unique |
| http://www.dbpex.org/ |
LOVD 2.0-29 |
13 genes |
1079 variants |
| dbPEX, PEX Gene Database |
PEX1,PEX10,PEX12,PEX13,PEX14,PEX16,PE... |
388 unique |
| http://chromium.liacs.nl/LOVD2/SDH/ |
LOVD 2.0-35 |
6 genes |
1051 variants |
| TCA Cycle Gene Mutation Database |
FH,SDHA,SDHAF2,SDHB,SDHC,SDHD |
575 unique |
| http://www.ncbi.nlm.nih.gov/lovd/ |
LOVD 2.0-35 |
6 genes |
1034 variants |
| LOVD at NCBI |
ABCC6,DOCK8,FAS,FOXA1,IL2RG,OCRL |
781 unique |
| https://eds.gene.le.ac.uk/ |
LOVD 2.0-35 |
7 genes |
756 variants |
| Ehlers-Danlos Syndrome Variant Database |
ADAMTS2,CHST14,COL3A1,COL5A1,COL5A2,P... |
543 unique |
| http://hgddatabase.cvtisr.sk/ |
LOVD 2.0-31 |
1 gene |
673 variants |
| HGD mutation database |
HGD |
156 unique |
| http://mitodyn.org/ |
LOVD 2.0-35 |
2 genes |
671 variants |
| MITOchondrial DYNamics variation pages |
GDAP1,OPA1 |
337 unique |
| http://genomed.org/LOVD/HNPCC/ |
LOVD 2.0-12 |
7 genes |
639 variants |
| Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) |
APC,MLH1,MLH3,MSH2,MSH6,PMS1,PMS2 |
450 unique |
| http://ihg.helmholtz-muenchen.de/LOVDv.2.0/ |
LOVD 2.0-28 |
10 genes |
582 variants |
| LOVD - Munich Open Variation Database |
ABCC8,DMP1,ENPP1,FGF23,KCNJ11,MC2R,MR... |
211 unique |
| https://chromium.liacs.nl/LOVD2/MG/ |
LOVD 2.0-35 |
1 gene |
572 variants |
| LOVD - Leiden Open Variation Database |
MG |
1 unique |
| https://grenada.lumc.nl/LOVD2/MD/ |
LOVD 2.0-35 |
1 gene |
507 variants |
| Menkes Disease |
ATP7A |
320 unique |
| http://grenada.lumc.nl/LOVD2/FHM/ |
LOVD 2.0-35 |
3 genes |
500 variants |
| Familial Hemiplegic Migraine (FHM) Variation Database |
ATP1A2,CACNA1A,SCN1A |
143 unique |
| http://chromium.liacs.nl/LOVD2/growth/ |
LOVD 2.0-35 |
6 genes |
491 variants |
| LOVD - Leiden Open Variation Database |
GHR,IGF1,IGF1R,IGF2,IGFALS,STAT5B |
150 unique |
| http://ngrl.manchester.ac.uk/LOVDv.2.0/ |
LOVD 2.0-28 |
5 genes |
399 variants |
| NGRL, Manchester LOVD |
CHM,KDM6A,L1CAM,MLL2,UBE3A |
327 unique |
| http://www-huge.uni-regensburg.de/BEST1_database/ |
LOVD 2.0-23 |
1 gene |
394 variants |
| Bestrophin 1 (BEST1) |
BEST1 |
269 unique |
| http://www.dbagenes.unito.it/ |
LOVD 2.0-25 |
9 genes |
364 variants |
| Diamond-Blackfan Anemia |
RPL11,RPL35A,RPL5,RPS10,RPS17,RPS19,R... |
227 unique |
| https://grenada.lumc.nl/LOVD2/UCL-Heart/ |
LOVD 2.0-35 |
8 genes |
361 variants |
| FH UCL BHF |
FTH1,HAMP,HFE2,LDLR,LDLRAP1,PCSK9,SLC... |
332 unique |
| http://rpgr.hgu.mrc.ac.uk/ |
LOVD 1.1.0-05 |
1 gene |
358 variants |
| Retinitis Pigmentosa GTPase Regulator database |
RPGR |
358 unique |
| https://grenada.lumc.nl/LOVD2/ARC/ |
LOVD 2.0-35 |
2 genes |
333 variants |
| LOVD - Leiden Open Variation Database |
VIPAR,VPS33B |
251 unique |
| http://grenada.lumc.nl/LOVD2/ROR/ |
LOVD 2.0-35 |
2 genes |
291 variants |
| LOVD 2.0 - ROR genes |
ROR1,ROR2 |
55 unique |
| http://grenada.lumc.nl/LOVD2/WS/ |
LOVD 2.0-35 |
5 genes |
279 variants |
| LOVD - Leiden Open Variation Database |
EDN3,EDNRB,MITF,PAX3,SOX10 |
233 unique |
| http://grenada.lumc.nl/LOVD2/ctx/ |
LOVD 2.0-35 |
1 gene |
211 variants |
| Cerebrotendinous Xanthomatosis |
CYP27A1 |
69 unique |
| http://www.icp.ucl.ac.be/vikkula/VAdb/ |
LOVD 2.0-35 |
16 genes |
207 variants |
| Vascular Anomaly and Lymphedema Mutation Database |
CCBE1,CCM2,FLT4,FOXC2,GATA2,GJC2,GLMN... |
137 unique |
| https://grenada.lumc.nl/LOVD2/PAX2/ |
LOVD 2.0-35 |
1 gene |
196 variants |
| PAX2 variant database |
PAX2 |
61 unique |
| https://drdb.gene.le.ac.uk/ |
LOVD 2.0-35 |
4 genes |
184 variants |
| Death Receptor Database (DRdb) |
TNFRSF10A,TNFRSF10B,TNFRSF10C,TNFRSF10D |
144 unique |
| http://149.142.212.78/LOVD/ |
LOVD 2.0-31 |
1 gene |
174 variants |
| UCLA Neurogenetics SETX Database |
SETX |
107 unique |
| http://grenada.lumc.nl/LOVD2/amc/ |
LOVD 2.0-35 |
1 gene |
163 variants |
| LOVD - Leiden Open Variation Database |
PORCN |
116 unique |
| http://www.skingenedatabase.com/ |
LOVD 2.0-16 |
1 gene |
150 variants |
| The Folliculin Mutation Database |
FLCN |
84 unique |
| http://nndimontreal.ca/ |
LOVD 3.0-03 |
2 genes |
133 variants |
| LOVD - Leiden Open Variation Database |
AQP2,AVPR2 |
8 unique |
| https://grenada.lumc.nl/LOVD2/uni-hd/5-HT/ |
LOVD 2.0-35 |
5 genes |
117 variants |
| University of Heidelberg Serotonin variant database |
HTR3A,HTR3B,HTR3C,HTR3D,HTR3E |
58 unique |
| http://www.goldenhelix.org/server/a1atvar/ |
LOVD 2.0-30 |
1 gene |
93 variants |
| a1atvar |
SERPINA1 |
65 unique |
| http://ROGDI.i-med.ac.at |
LOVD 2.0-34 |
1 gene |
54 variants |
| ROGDI MUI |
ROGDI |
9 unique |
| http://www.icp.ucl.ac.be/vikkula/CLPdb/ |
LOVD 2.0-35 |
1 gene |
50 variants |
| Cleft Lip and Palate Mutation Database |
IRF6 |
40 unique |
| https://grenada.lumc.nl/LOVD2/BCM/ |
LOVD 2.0-35 |
1 gene |
29 variants |
| Baylor College of Medicine |
KAT6B |
23 unique |
| https://grenada.lumc.nl/LOVD2/TCS/ |
LOVD 2.0-35 |
2 genes |
26 variants |
| Treacher Collins syndrome variant database |
POLR1C,POLR1D |
22 unique |
| http://FKBP14.i-med.ac.at |
LOVD 2.0-34 |
1 gene |
12 variants |
| FKBP14 MUI |
FKBP14 |
2 unique |
| https://grenada.lumc.nl/LOVD2/NIH/eyegene/ |
LOVD 2.0-35 |
1 gene |
2 variants |
| LOVD - Leiden Open Variation Database |
PRPF8 |
2 unique |
| http://www.medgen.mcgill.ca/nndi/ |
LOVD 2.0-16 |
1 gene |
2 variants |
| nndi |
AVP |
1 unique |
| http://www.med.uni-magdeburg.de/lovd/ |
LOVD 2.0-26 |
1 gene |
2 variants |
| Magdeburg Mutation Database |
LAMB2 |
1 unique |
| http://www.medgen.mcgill.ca/ANO5/ |
LOVD 2.0-24 |
1 gene |
1 variants |
| ANO5 LOVD - Leiden Open Variation Database |
ANO5 |
1 unique |
| https://grenada.lumc.nl/LOVD2/CILD/ |
LOVD 2.0-35 |
5 genes |
0 variants |
| Primary Ciliary Dyskinesia variant database |
DNAAF1,DNAH11,DNAH5,DNAI1,DNAI2 |
0 unique |
| https://grenada.lumc.nl/LOVD2/vumc/CTD/ |
LOVD 2.0-35 |
4 genes |
0 variants |
| Connective tissue disorders (VUMC Amsterdam) |
ACTA2,COL10A1,COL4A1,MYH11 |
0 unique |
| http://genetics.genomicscenter.nl/LOVD_UMC/ |
LOVD 3.0-03 |
2 genes |
0 variants |
| UMCU LOVD |
NOC2L,SAMD11 |
0 unique |
| http://HSD17B10.i-med.ac.at |
LOVD 2.0-34 |
1 gene |
0 variants |
| HSD17B10 MUI |
HSD17B10 |
0 unique |
| https://atlas.cmm.ki.se/LOVDv.2.0/ |
LOVD 2.0-31 |
1 gene |
0 variants |
| LOVD - Leiden Open Variation Database |
MLH1 |
0 unique |
| http://grenada.lumc.nl/LOVD2/L1CAM/ |
LOVD 2.0-35 |
1 gene |
0 variants |
| LOVD - Leiden Open Variation Database |
L1CAM |
0 unique |
| http://CNDP1.i-med.ac.at |
LOVD 2.0-34 |
0 genes |
0 variants |
| CNDP1 MUI |
|
0 unique |
| http://dnadb.info/ |
LOVD 2.0-31 |
0 genes |
0 variants |
| International DNA Database |
|
0 unique |
| http://AUH.i-med.ac.at |
LOVD 2.0-34 |
0 genes |
0 variants |
| AUH MUI |
|
0 unique |
| http://ACAD8.i-med.ac.at |
LOVD 2.0-34 |
0 genes |
0 variants |
| ACAD8 - MUI |
|
0 unique |
| https://grenada.lumc.nl/LOVD2/CDG/ |
LOVD 2.0-35 |
0 genes |
0 variants |
| Congenital disorders of glycosylation (CDG) |
|
0 unique |
| http://ACADSB.i-med.ac.at |
LOVD 2.0-34 |
0 genes |
0 variants |
| ACADSB MUI |
|
0 unique |
| http://HMGCS2.i-med.ac.at |
LOVD 2.0-34 |
0 genes |
0 variants |
| HMGCS2 MUI |
|
0 unique |
| http://brca.iarc.fr/LOVD/ |
LOVD 2.0-22 |
? genes |
? variants |
| LOVD - IARC |
|
? unique |