LOVD - Leiden Open Variation Database
LOVD v.2.0 Build 35 [
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Please select a gene database:
ABCA13 (ATP-binding cassette, sub-family A, member 13)
ADAR (adenosine deaminase, RNA-specific)
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)
RNASEH2A (ribonuclease H2, subunit A)
RNASEH2B (ribonuclease H2, subunit B)
RNASEH2C (ribonuclease H2, subunit C)
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)
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LOVD v.2.0
Build 35
©2004-2012
Leiden University Medical Center