LOVD - Leiden Open Variation Database
LOVD v.2.0 Build 36 [
Current LOVD status
]
Register as submitter
|
Log in
View unique variants
Search unique variants
View all contents
Full database search
Variant listing based on patient origin
Database statistics
Switch gene
Please select a gene database:
ABCA13 (ATP-binding cassette, sub-family A, member 13)
ARG1 (Arginase 1)
ASL (ArgininoSuccinate lyase)
ASS1 (ArgininoSuccinate Synthetase 1)
ATM (Ataxia Telangiectasia Mutated)
ATP1A2 (ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide)
CACNA1A (Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit)
CACNA1S (Calcium channel, voltage-dependent, L type, alpha 1S subunit)
CDKN2A (Cyclin-Dependent Kinase inhibitor 2A)
CLCN1 (Chloride channel 1, skeletal muscle)
CPS1 (Carbamoyl-Phosphate Synthetase 1)
CREBBP (CREB Binding Protein)
ESCO2 (Establishment of Cohesion 1 homolog 2)
GLRA1 (GLycine Receptor, Alpha 1)
HGSNAT (Heparan-alpha-glucosaminide N-acetyltransferase)
LRP5 (Low density lipoprotein Receptor-related Protein 5)
NR0B1 (Nuclear Receptor subfamily 0, group B, member 1 (DAX1))
OTC (Ornithine CarbamoylTransferase)
RNF135 (Ring Finger protein 135)
SAMHD1 (SAM domain and HD domain 1)
SCN4A (Sodium channel, voltage-gated, type IV, alpha subunit)
SLC25A13 (Solute Carrier family 25 member 13)
SLC25A15 (Solute Carrier family 25 member 15)
SOST (Sclerosteosis)
TCF4 (TransCription Factor 4)
TREX1 (Three prime repair exonuclease 1)
Powered by
LOVD v.2.0
Build 36
©2004-2014
Leiden University Medical Center