| In total: 387,899 variants (64,693 unique) in 105,337 patients in 24412 genes in 77 LOVD installations. |
| 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 2.0-33 |
92 genes |
68285 variants |
| Leiden Muscular Dystrophy pages |
ACTA1,ACTC1,AGRN,ANO5,BAG3,BIN1,CAPN3... |
9343 unique |
| http://chromium.liacs.nl/LOVD2/colon_cancer/ |
LOVD 2.0-33 |
10 genes |
27164 variants |
| Colon cancer gene variant databases |
APC,CDH1,EPCAM,MLH1,MLH3,MSH2,MSH6,MU... |
4411 unique |
| http://grenada.lumc.nl/LOVD2/MR/ |
LOVD 2.0-33 |
522 genes |
26851 variants |
| X-chromosome gene database |
ABCB7,ABCD1,ACE2,ACOT9,ACSL4,ACTRT1,A... |
3100 unique |
| https://grenada.lumc.nl/LOVD2/Usher_montpellier/ |
LOVD 2.0-33 |
10 genes |
17113 variants |
| Retinal and hearing impairment genetic mutation database |
CDH23,CHM,CLRN1,GPR98,MYO7A,PCDH15,US... |
2176 unique |
| http://grenada.lumc.nl/LOVD2/mendelian_genes/ |
LOVD 2.0-33 |
2033 genes |
11411 variants |
| Mendelian genes |
A2M,A4GALT,AAAS,AANAT,AASS,ABAT,ABCA1... |
3935 unique |
| http://www.genomed.org/LOVD/CM/ |
LOVD 2.0-30 |
56 genes |
9716 variants |
| ZJU-CGGM & BGI-Shenzhen |
ABCC9,ACTC1,ACTN2,AXIN2,BARD1,BRIP1,C... |
5925 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 2.0-33 |
37 genes |
8813 variants |
| LOVD - Leiden Open Variation Database |
ABCA13,ARG1,ASL,ASS1,ATM,ATP1A2,B3GAL... |
3224 unique |
| http://grenada.lumc.nl/LOVD2/diabetes/ |
LOVD 2.0-33 |
3 genes |
8083 variants |
| Monogenic Diabetes |
GCK,HNF1A,HNF4A |
309 unique |
| http://grenada.lumc.nl/LOVD2/eye/ |
LOVD 2.0-33 |
58 genes |
5035 variants |
| LOVD - Leiden Open Variation Database |
ABCA4,ADAMTS10,ADAMTSL4,ARL6,BFSP1,BF... |
678 unique |
| https://research.cchmc.org/LOVD/ |
LOVD 2.0-33 |
47 genes |
4556 variants |
| **PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database |
ABCB11,ABCB4,ACADM,ACADVL,ATP8B1,CASP... |
4281 unique |
| http://chromium.liacs.nl/LOVD2/TSC/ |
LOVD 2.0-33 |
2 genes |
4510 variants |
| Tuberous sclerosis database |
TSC1,TSC2 |
1817 unique |
| http://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 |
| http://rb1-lovd.d-lohmann.de/ |
LOVD 2.0-31 |
1 gene |
2647 variants |
| rb1-lsdb |
RB1 |
1166 unique |
| http://chromium.liacs.nl/LOVD2/cancer/ |
LOVD 2.0-33 |
2 genes |
2621 variants |
| LOVD - Leiden Open Variation Database |
BRCA1,BRCA2 |
1022 unique |
| https://grenada.lumc.nl/LOVD2/shared1/ |
LOVD 2.0-33 |
89 genes |
2411 variants |
| LOVD - Leiden Open Variation Database |
AARS,ACP5,ALG11,ANKH,ARID1A,ASXL1,ATP... |
781 unique |
| http://chromium.liacs.nl/LOVD2/FANC/ |
LOVD 2.0-33 |
15 genes |
2275 variants |
| Fanconi anemia database |
BRIP1,FANCA,FANCB,FANCC,FANCD1,FANCD2... |
785 unique |
| https://oi.gene.le.ac.uk/ |
LOVD 2.0-33 |
11 genes |
2223 variants |
| Osteogenesis Imperfecta Variant Database |
BMP1,COL1A1,COL1A2,CRTAP,FKBP10,LEPRE... |
1295 unique |
| http://grenada.lumc.nl/LOVD2/PKD/ |
LOVD 2.0-33 |
2 genes |
2082 variants |
| Autosomal Dominant Polycystic Kidney Disease (ADPKD) |
PKD1,PKD2 |
70 unique |
| http://grenada.lumc.nl/LOVD2/COL4A/ |
LOVD 2.0-33 |
4 genes |
2017 variants |
| Collagen, type IV, alpha |
COL4A3,COL4A4,COL4A5,COL4A6 |
1089 unique |
| http://lovd.bx.psu.edu/ |
LOVD 2.0-33 |
37 genes |
1994 variants |
| The Globin Gene Server |
ALOX5AP,AQP9,ARG2,ASS1,ATRX,BCL11A,CN... |
1938 unique |
| http://grenada.lumc.nl/LOVD2/vumc/ |
LOVD 2.0-33 |
7 genes |
1819 variants |
| LOVD - Leiden Open Variation Database |
ALDH5A1,ASPA,D2HGDH,GAMT,GATM,L2HGDH,... |
346 unique |
| http://www.genomed.org/lovd/mma/ |
LOVD 2.0-12 |
9 genes |
1782 variants |
| Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM) |
LMBRD1,MCEE,MMAA,MMAB,MMACHC,MMADHC,M... |
957 unique |
| http://grenada.lumc.nl/LOVD2/CDLS/ |
LOVD 2.0-33 |
5 genes |
1431 variants |
| LOVD - Leiden Open Variation Database |
NIPBL,PDS5A,PDS5B,SMC1A,SMC3 |
308 unique |
| https://grenada.lumc.nl/LOVD2/CRD/ |
LOVD 2.0-33 |
130 genes |
1217 variants |
| Childhood Recessive Diseases |
ACADL,ACADM,ACADSB,ACADVL,ADA,ADAMTS1... |
303 unique |
| http://grenada.lumc.nl/LOVD2/VWF/ |
LOVD 2.0-33 |
1 gene |
1175 variants |
| ISTH-SSC VWF Online Database |
VWF |
421 unique |
| http://grenada.lumc.nl/LOVD2/ARVC/ |
LOVD 2.0-33 |
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 2.0-33 |
2 genes |
1091 variants |
| Multiple Osteochondroma Mutation Database |
EXT1,EXT2 |
651 unique |
| http://www.ncbi.nlm.nih.gov/lovd/ |
LOVD 2.0-33 |
5 genes |
1029 variants |
| LOVD at NCBI |
ABCC6,DOCK8,FAS,IL2RG,OCRL |
778 unique |
| https://lovd.euro-wabb.org/ |
LOVD 2.0-30 |
4 genes |
1017 variants |
| EURO-WABB PROJECT OPEN VARIATION DATABASE |
ALMS1,EIF2AK3,SLC19A2,WFS1 |
358 unique |
| http://chromium.liacs.nl/LOVD2/SDH/ |
LOVD 2.0-33 |
6 genes |
1010 variants |
| TCA Cycle Gene Mutation Database |
FH,SDHA,SDHAF2,SDHB,SDHC,SDHD |
563 unique |
| http://www.dbpex.org/ |
LOVD 2.0-29 |
13 genes |
985 variants |
| dbPEX, PEX Gene Database |
PEX1,PEX10,PEX12,PEX13,PEX14,PEX16,PE... |
331 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 |
| https://eds.gene.le.ac.uk/ |
LOVD 2.0-33 |
5 genes |
583 variants |
| Ehlers-Danlos Syndrome Variant Database |
COL3A1,COL5A1,COL5A2,PLOD1,PLOD3 |
419 unique |
| http://hgddatabase.cvtisr.sk/ |
LOVD 2.0-31 |
1 gene |
581 variants |
| HGD mutation database |
HGD |
149 unique |
| https://chromium.liacs.nl/LOVD2/MG/ |
LOVD 2.0-33 |
1 gene |
572 variants |
| LOVD - Leiden Open Variation Database |
MG |
1 unique |
| http://ihg.helmholtz-muenchen.de/LOVDv.2.0/ |
LOVD 2.0-28 |
10 genes |
564 variants |
| LOVD - Munich Open Variation Database |
ABCC8,DMP1,ENPP1,FGF23,KCNJ11,MC2R,MR... |
204 unique |
| http://chromium.liacs.nl/LOVD2/growth/ |
LOVD 2.0-33 |
6 genes |
491 variants |
| LOVD - Leiden Open Variation Database |
GHR,IGF1,IGF1R,IGF2,IGFALS,STAT5B |
150 unique |
| http://grenada.lumc.nl/LOVD2/FHM/ |
LOVD 2.0-33 |
3 genes |
456 variants |
| Familial Hemiplegic Migraine (FHM) Variation Database |
ATP1A2,CACNA1A,SCN1A |
132 unique |
| https://grenada.lumc.nl/LOVD2/MD/ |
LOVD 2.0-33 |
1 gene |
439 variants |
| Menkes Disease |
ATP7A |
289 unique |
| http://www-huge.uni-regensburg.de/BEST1_database/ |
LOVD 2.0-23 |
1 gene |
395 variants |
| Bestrophin 1 (BEST1) |
BEST1 |
271 unique |
| http://mitodyn.org/ |
LOVD 2.0-31 |
2 genes |
384 variants |
| MITOchondrial DYNamics variation pages |
GDAP1,OPA1 |
58 unique |
| http://grenada.lumc.nl/LOVD2/TPI/ |
LOVD 2.0-33 |
6 genes |
372 variants |
| Parkinson's disease Mutation Database |
LRRK2,PARK11,PARK2,PARK7,PINK1,SNCA |
253 unique |
| http://ngrl.manchester.ac.uk/LOVDv.2.0/ |
LOVD 2.0-28 |
3 genes |
372 variants |
| NGRL, Manchester LOVD |
CHM,L1CAM,UBE3A |
310 unique |
| http://www.dbagenes.unito.it/ |
LOVD 2.0-25 |
9 genes |
360 variants |
| Diamond-Blackfan Anemia |
RPL11,RPL35A,RPL5,RPS10,RPS17,RPS19,R... |
223 unique |
| https://grenada.lumc.nl/LOVD2/ARC/ |
LOVD 2.0-33 |
2 genes |
333 variants |
| LOVD - Leiden Open Variation Database |
VIPAR,VPS33B |
251 unique |
| http://grenada.lumc.nl/LOVD2/ROR/ |
LOVD 2.0-33 |
2 genes |
291 variants |
| LOVD 2.0 - ROR genes |
ROR1,ROR2 |
55 unique |
| http://grenada.lumc.nl/LOVD2/WS/ |
LOVD 2.0-33 |
5 genes |
277 variants |
| LOVD - Leiden Open Variation Database |
EDN3,EDNRB,MITF,PAX3,SOX10 |
231 unique |
| http://sysbio.org.cn |
LOVD 2.0-33 |
16 genes |
191 variants |
| Amyotrophic Lateral Sclerosis_NDDMD |
ANG,APEX1,APOE,CHMP2B,DCTN1,FUS,GRIA2... |
87 unique |
| https://grenada.lumc.nl/LOVD2/PAX2/ |
LOVD 2.0-33 |
1 gene |
181 variants |
| PAX2 variant database |
PAX2 |
58 unique |
| http://grenada.lumc.nl/LOVD2/ctx/ |
LOVD 2.0-33 |
1 gene |
172 variants |
| Cerebrotendinous Xanthomatosis |
CYP27A1 |
57 unique |
| http://149.142.212.78/LOVD/ |
LOVD 2.0-31 |
1 gene |
158 variants |
| UCLA Neurogenetics SETX Database |
SETX |
97 unique |
| http://www.skingenedatabase.com/ |
LOVD 2.0-16 |
1 gene |
150 variants |
| The Folliculin Mutation Database |
FLCN |
84 unique |
| http://grenada.lumc.nl/LOVD2/amc/ |
LOVD 2.0-33 |
1 gene |
107 variants |
| LOVD - Leiden Open Variation Database |
PORCN |
81 unique |
| http://www.goldenhelix.org/server/a1atvar/ |
LOVD 2.0-30 |
1 gene |
93 variants |
| a1atvar |
SERPINA1 |
65 unique |
| http://sysbio.org.cn/ |
LOVD 2.0-33 |
3 genes |
55 variants |
| Alzheimer's disease_NDDMD |
APP,PSEN1,PSEN2 |
55 unique |
| https://grenada.lumc.nl/LOVD2/TCS/ |
LOVD 2.0-33 |
2 genes |
26 variants |
| Treacher Collins syndrome variant database |
POLR1C,POLR1D |
22 unique |
| https://grenada.lumc.nl/LOVD2/BCM/ |
LOVD 2.0-33 |
1 gene |
24 variants |
| Baylor College of Medicine |
KAT6B |
19 unique |
| https://grenada.lumc.nl/LOVD3/shared/ |
LOVD 3.0-beta-01 |
21019 genes |
4 variants |
| LOVD 3.0 test installation |
A1BG,A1BG-AS1,A1CF,A2LD1,A2M,A2ML1,A4... |
4 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/vumc/CTD/ |
LOVD 2.0-33 |
5 genes |
0 variants |
| Connective tissue disorders (VUMC Amsterdam) |
ACTA2,ADAMTS2,COL10A1,COL4A1,MYH11 |
0 unique |
| https://grenada.lumc.nl/LOVD2/CILD/ |
LOVD 2.0-33 |
5 genes |
0 variants |
| Primary Ciliary Dyskinesia variant database |
DNAAF1,DNAH11,DNAH5,DNAI1,DNAI2 |
0 unique |
| https://grenada.lumc.nl/LOVD2/uni-hd/5-HT/ |
LOVD 2.0-33 |
5 genes |
0 variants |
| University of Heidelberg Serotonin variant database |
HTR3A,HTR3B,HTR3C,HTR3D,HTR3E |
0 unique |
| https://grenada.lumc.nl/LOVD2/UCL-Heart/ |
LOVD 2.0-33 |
3 genes |
0 variants |
| HEART UCL |
LDLR,LDLRAP1,PCSK9 |
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 |
| https://grenada.lumc.nl/LOVD2/uni-hd/TF/ |
LOVD 2.0-33 |
1 gene |
0 variants |
| University of Heidelberg Transcription factor variant database |
SHOX |
0 unique |
| http://grenada.lumc.nl/LOVD2/L1CAM/ |
LOVD 2.0-33 |
1 gene |
0 variants |
| LOVD - Leiden Open Variation Database |
L1CAM |
0 unique |
| http://172.30.12.152/DB/LOVD3 |
LOVD 3.0-alpha-07 |
0 genes |
0 variants |
| MUMC - Maastricht Open Variation Database |
|
0 unique |
| http://HCI-LOVD.hci.utah.edu |
LOVD 2.0-33 |
0 genes |
0 variants |
| LOVD - human mismatch repair genes |
|
0 unique |
| https://grenada.lumc.nl/LOVD2/NIH/eyegene/ |
LOVD 2.0-33 |
0 genes |
0 variants |
| LOVD - Leiden Open Variation Database |
|
0 unique |
| http://dnadb.info/ |
LOVD 2.0-31 |
0 genes |
0 variants |
| International DNA Database |
|
0 unique |
| https://grenada.lumc.nl/LOVD2/CDG/ |
LOVD 2.0-33 |
0 genes |
0 variants |
| Congenital disorders of glycosylation (CDG) |
|
0 unique |
| http://lovd.hgu.mrc.ac.uk/ |
LOVD 2.0-30 |
? genes |
? variants |
| Human Genetics Unit LOVD |
|
? unique |