| In total: 195,123 variants in 84,257 patients in 3252 genes in 65 LOVD installations. |
| http://www.dmd.nl/nmdb2/ |
LOVD 2.0-28 |
79 genes |
59325 variants |
| Leiden Muscular Dystrophy pages |
ACTA1,ACTC1,AGRN,ANO5,BAG3,BIN1,CAPN3... |
8049 unique |
| http://chromium.liacs.nl/LOVD2/colon_cancer/ |
LOVD 2.0-28 |
9 genes |
25191 variants |
| Colon cancer gene variant databases |
APC,EPCAM,MLH1,MLH3,MSH2,MSH6,MUTYH,P... |
3722 unique |
| http://grenada.lumc.nl/LOVD2/MR/ |
LOVD 2.0-28 |
543 genes |
24749 variants |
| Mental Retardation database |
ABCB7,ABCD1,ACE2,ACOT9,ACSL4,ACTRT1,A... |
2149 unique |
| https://grenada.lumc.nl/LOVD2/Usher_montpellier/ |
LOVD 2.0-28 |
10 genes |
10998 variants |
| Retinal and hearing impairment genetic mutation database |
CDH23,CHM,CLRN1,GPR98,MYO7A,PCDH15,US... |
1317 unique |
| http://chromium.liacs.nl/LOVD2/ |
LOVD 2.0-28 |
33 genes |
8133 variants |
| LOVD - Leiden Open Variation Database |
ABCA13,ARG1,ASL,ASS1,ATM,ATP1A2,B3GAL... |
2847 unique |
| http://grenada.lumc.nl/LOVD2/diabetes/ |
LOVD 2.0-28 |
3 genes |
8082 variants |
| Monogenic Diabetes |
GCK,HNF1A,HNF4A |
308 unique |
| http://www.genomed.org/LOVD/ |
LOVD 2.0-12 |
31 genes |
5623 variants |
| Zhejiang University Center for Genetic and Genomic Medicine |
AKAP9,ANK2,APC,BRCA1,BRCA2,CACNA1C,CA... |
3175 unique |
| http://www.china-hvp.org/LOVD/ |
LOVD 2.0-12 |
27 genes |
4905 variants |
| Zhejiang University Center for Genetic and Genomic Medicine |
AKAP9,ANK2,APC,BRCA1,BRCA2,CACNA1C,CA... |
2901 unique |
| https://research.cchmc.org/LOVD/ |
LOVD 2.0-28 |
47 genes |
4541 variants |
| CCHMC - Human Genetics Mutation Database |
ABCB11,ABCB4,ACADM,ACADVL,ATP8B1,CASP... |
4276 unique |
| http://chromium.liacs.nl/LOVD2/TSC/ |
LOVD 2.0-28 |
2 genes |
4106 variants |
| Tuberous sclerosis database |
TSC1,TSC2 |
1690 unique |
| http://genomed.org/LOVD/LQTs/ |
LOVD 2.0-12 |
12 genes |
2976 variants |
| Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) |
AKAP9,ANK2,CACNA1C,CAV3,KCNE1,KCNE2,K... |
1733 unique |
| http://rb1-lovd.d-lohmann.de/ |
LOVD 2.0-27 |
1 gene |
2404 variants |
| rb1-lsdb |
RB1 |
1060 unique |
| http://chromium.liacs.nl/LOVD2/cancer/ |
LOVD 2.0-28 |
2 genes |
2396 variants |
| LOVD - Leiden Open Variation Database |
BRCA1,BRCA2 |
992 unique |
| http://grenada.lumc.nl/LOVD2/eye/ |
LOVD 2.0-28 |
26 genes |
2273 variants |
| LOVD - Leiden Open Variation Database |
BFSP1,BFSP2,CHMP4B,CRYAA,CRYAB,CRYBA1... |
285 unique |
| http://grenada.lumc.nl/LOVD2/PKD/ |
LOVD 2.0-28 |
2 genes |
2027 variants |
| Autosomal Dominant Polycystic Kidney Disease (ADPKD) |
PKD1,PKD2 |
34 unique |
| http://chromium.liacs.nl/LOVD2/FANC/ |
LOVD 2.0-28 |
13 genes |
2002 variants |
| Fanconi anemia database |
FANCA,FANCB,FANCC,FANCD1,FANCD2,FANCE... |
706 unique |
| http://www.ucl.ac.uk/ldlr/Current/ |
LOVD 1.1.0-12 |
3 genes |
1936 variants |
| British Heart Foundation |
LDLR,LDLRAP1,PCSK9 |
1250 unique |
| https://oi.gene.le.ac.uk/ |
LOVD 2.0-28 |
9 genes |
1882 variants |
| Osteogenesis Imperfecta Variant Database |
COL1A1,COL1A2,CRTAP,FKBP10,LEPRE1,PLO... |
1136 unique |
| http://lovd.bx.psu.edu/ |
LOVD 2.0-26 |
37 genes |
1832 variants |
| The Globin Gene Server |
ALOX5AP,AQP9,ARG2,ASS1,ATRX,BCL11A,CN... |
1820 unique |
| http://grenada.lumc.nl/LOVD2/mendelian_genes/ |
LOVD 2.0-28 |
2088 genes |
1703 variants |
| Mendelian genes |
A2M,A4GALT,AAAS,AANAT,AASS,ABAT,ABCA1... |
505 unique |
| http://grenada.lumc.nl/LOVD2/CDLS/ |
LOVD 2.0-28 |
5 genes |
1387 variants |
| LOVD - Leiden Open Variation Database |
NIPBL,PDS5A,PDS5B,SMC1A,SMC3 |
282 unique |
| http://hyg-serv-01.hyg.uni-heidelberg.de/lovd/ |
LOVD 1.1.0-12 |
6 genes |
1207 variants |
| University of Heidelberg |
HTR3A,HTR3B,HTR3C,HTR3D,HTR3E,SHOX |
243 unique |
| http://www.genomed.org/lovd/mma/ |
LOVD 2.0-12 |
9 genes |
1174 variants |
| Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) |
LMBRD1,MCEE,MMAA,MMAB,MMACHC,MMADHC,M... |
408 unique |
| http://grenada.lumc.nl/LOVD2/ARVC/ |
LOVD 2.0-28 |
8 genes |
1129 variants |
| ARVD/C Genetic Variants Database |
DSC2,DSG2,DSP,JUP,PKP2,TGFB3,TMEM43,TP63 |
599 unique |
| http://medgen.ugent.be/LOVD2/ |
LOVD 2.0-09 |
6 genes |
1107 variants |
| LOVD - Center for Medical Genetics, Ghent, Belgium |
COL2A1,FOXL2,NF1_germline,NF1_somatic... |
683 unique |
| http://medgen.ua.ac.be/LOVDv.2.0/ |
LOVD 2.0-28 |
2 genes |
1033 variants |
| Multiple Osteochondroma Mutation Database |
EXT1,EXT2 |
621 unique |
| http://grenada.lumc.nl/LOVD2/vumc/ |
LOVD 2.0-28 |
7 genes |
1021 variants |
| LOVD - Leiden Open Variation Database |
ALDH5A1,ASPA,D2HGDH,GAMT,GATM,L2HGDH,... |
228 unique |
| http://www.medgen.mcgill.ca/dbpex/ |
LOVD 2.0-16 |
13 genes |
982 variants |
| dbPEX, PEX Gene Database |
PEX1,PEX10,PEX12,PEX13,PEX14,PEX16,PE... |
348 unique |
| http://chromium.liacs.nl/LOVD2/SDH/ |
LOVD 2.0-28 |
5 genes |
913 variants |
| TCA Cycle Gene Mutation Database |
FH,SDHA,SDHB,SDHC,SDHD |
505 unique |
| http://lsdb.hgu.mrc.ac.uk/ |
LOVD 2.0-12 |
8 genes |
841 variants |
| LOVD |
MLYCD,NIPBL,OTX2,PAX6,RPGR,SMC1A,SOX2... |
411 unique |
| http://www.ncbi.nlm.nih.gov/lovd/ |
LOVD 2.0-24 |
4 genes |
647 variants |
| LOVD at NCBI |
ABCC6,DOCK8,FAS,OCRL |
571 unique |
| http://genomed.org/LOVD/HNPCC/ |
LOVD 2.0-12 |
7 genes |
640 variants |
| Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) |
APC,MLH1,MLH3,MSH2,MSH6,PMS1,PMS2 |
454 unique |
| https://chromium.liacs.nl/LOVD2/MG/ |
LOVD 2.0-28 |
1 gene |
572 variants |
| LOVD - Leiden Open Variation Database |
MG |
1 unique |
| http://www.genomed.org/lovd/algs/ |
LOVD 2.0-27 |
2 genes |
547 variants |
| Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) |
JAG1,KRT9 |
402 unique |
| http://chromium.liacs.nl/LOVD2/growth/ |
LOVD 2.0-28 |
6 genes |
489 variants |
| LOVD - Leiden Open Variation Database |
GHR,IGF1,IGF1R,IGF2,IGFALS,STAT5B |
149 unique |
| https://eds.gene.le.ac.uk/ |
LOVD 2.0-28 |
3 genes |
417 variants |
| Ehlers-Danlos Syndrome Variant Database |
COL3A1,COL5A1,COL5A2 |
341 unique |
| https://grenada.lumc.nl/LOVD2/shared1/ |
LOVD 2.0-28 |
9 genes |
402 variants |
| LOVD - Leiden Open Variation Database |
CHRNG,FLCN,PLA2G6,SCNN1A,SCNN1B,SCNN1... |
283 unique |
| http://www-huge.uni-regensburg.de/BEST1_database/ |
LOVD 2.0-23 |
1 gene |
374 variants |
| Bestrophin 1 (BEST1) |
BEST1 |
255 unique |
| http://grenada.lumc.nl/LOVD2/TPI/ |
LOVD 2.0-28 |
6 genes |
372 variants |
| Parkinson's disease Mutation Database |
LRRK2,PARK11,PARK2,PARK7,PINK1,SNCA |
253 unique |
| http://rpgr.hgu.mrc.ac.uk/ |
LOVD 1.1.0-05 |
1 gene |
358 variants |
| Retinitis Pigmentosa GTPase Regulator database |
RPGR |
358 unique |
| http://www.dbagenes.unito.it/ |
LOVD 2.0-25 |
9 genes |
356 variants |
| Diamond-Blackfan Anemia |
RPL11,RPL35A,RPL5,RPS10,RPS17,RPS19,R... |
220 unique |
| http://ihg.helmholtz-muenchen.de/LOVDv.2.0/ |
LOVD 2.0-28 |
10 genes |
340 variants |
| LOVD - Munich Open Variation Database |
ABCC8,DMP1,ENPP1,FGF23,KCNJ11,MC2R,MR... |
166 unique |
| http://ngrl.man.ac.uk/lovd2/ |
LOVD 2.0-11 |
3 genes |
282 variants |
| NGRL, Manchester LOVD |
L1CAM,TEST,UBE3A |
233 unique |
| http://grenada.lumc.nl/LOVD2/test/ |
LOVD 2.0-28 |
1 gene |
267 variants |
| LOVD 2.0 - ROR2 |
ROR2 |
31 unique |
| http://grenada.lumc.nl/LOVD2/WS/ |
LOVD 2.0-28 |
5 genes |
231 variants |
| LOVD - Leiden Open Variation Database |
EDN3,EDNRB,MITF,PAX3,SOX10 |
197 unique |
| http://grenada.lumc.nl/LOVD2/FHM/ |
LOVD 2.0-28 |
3 genes |
226 variants |
| Familial Hemiplegic Migraine (FHM) Variation Database |
ATP1A2,CACNA1A,SCN1A |
80 unique |
| http://grenada.lumc.nl/LOVD2/ctx/ |
LOVD 2.0-28 |
1 gene |
172 variants |
| Cerebrotendinous Xanthomatosis |
CYP27A1 |
57 unique |
| https://www.geschwind.med.ucla.edu/LOVD/ |
LOVD 2.0-26 |
1 gene |
158 variants |
| UCLA Neurogenetics |
SETX |
97 unique |
| http://www.skingenedatabase.com/ |
LOVD 2.0-16 |
1 gene |
150 variants |
| The Folliculin Mutation Database |
FLCN |
84 unique |
| http://fishmap2.igib.res.in/mirlovd/ |
LOVD 2.0-22 |
108 genes |
134 variants |
| miRvar |
MIR1178,MIR1181,MIR1185_2,MIR1206,MIR... |
134 unique |
| http://grenada.lumc.nl/LOVD2/amc/ |
LOVD 2.0-28 |
1 gene |
104 variants |
| LOVD - Leiden Open Variation Database |
PORCN |
78 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://fishmap2.igib.res.in/mirlovd_test |
LOVD 2.0-22 |
1 gene |
1 variants |
| TEST |
TEST0001 |
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 |
| http://genome.igib.res.in/tblovd/ |
LOVD 2.0-20 |
1 gene |
1 variants |
| TB Susceptibility Locus Variation Database |
TLR2 |
1 unique |
| https://hvp.ivec.org/ |
LOVD 2.0-13 |
6 genes |
0 variants |
| LOVD - Leiden Open Variation Database |
APC,BRCA1,BRCA2,HTT,MLH1,MSH2 |
0 unique |
| https://grenada.lumc.nl/LOVD2/uni-hd/5-HT/ |
LOVD 2.0-28 |
5 genes |
0 variants |
| University of Heidelberg Serotonin variant database |
HTR3A,HTR3B,HTR3C,HTR3D,HTR3E |
0 unique |
| http://grenada.lumc.nl/LOVD2/COL4A/ |
LOVD 2.0-28 |
4 genes |
0 variants |
| Collagen, type IV, alpha |
COL4A3,COL4A4,COL4A5,COL4A6 |
0 unique |
| http://lbbma.univ-angers.fr/lsdb/ |
LOVD 2.0-26 |
1 gene |
0 variants |
| mtDYNDB - Mitochondrial Dynamic Genes Database |
GDAP1 |
0 unique |
| https://grenada.lumc.nl/LOVD2/uni-hd/TF/ |
LOVD 2.0-28 |
1 gene |
0 variants |
| University of Heidelberg Transcription factor variant database |
SHOX |
0 unique |
| http://grenada.lumc.nl/LOVD2/L1CAM/ |
LOVD 2.0-28 |
1 gene |
0 variants |
| LOVD - Leiden Open Variation Database |
L1CAM |
0 unique |
| http://pros.upv.es |
LOVD 2.0-27 |
0 genes |
0 variants |
| Genoma |
|
0 unique |
| http://ngrl.manchester.ac.uk/LOVDv.2.0/ |
LOVD 2.0-22 |
0 genes |
0 variants |
| NGRL Manchester LOVD2 |
|
0 unique |
| http://webxinh.tk/LOVD20/ |
LOVD 2.0-26 |
0 genes |
0 variants |
| Title of this LOVD installation |
|
0 unique |
