LOVD - Leiden Open Variation Database
LOVD v.2.0 Build 28 [
Current LOVD status
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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)
B3GALTL (Beta 1,3-GALactosylTransferase-Like)
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)
EP300 (E1A binding protein p300)
ESCO2 (Establishment of Cohesion 1 homolog 2)
GAA (Glucosidase, alpha, acid (Pompe disease))
GLRA1 (GLycine Receptor, Alpha 1)
GNAS (GNAS complex locus)
HGSNAT (Heparan-alpha-glucosaminide N-acetyltransferase)
LRP5 (Low density lipoprotein Receptor-related Protein 5)
NAGS (N-AcetylGlutamate Synthase)
NBN (nibrin)
NOTCH3 (Notch homolog 3)
NR0B1 (Nuclear Receptor subfamily 0, group B, member 1 (DAX1))
NSD1 (Nuclear receptor binding SET Domain protein 1)
OTC (Ornithine CarbamoylTransferase)
RNF135 (Ring Finger protein 135)
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)
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LOVD v.2.0
Build 28
©2004-2010
Leiden University Medical Center