A (132) | B (54) | C (205) | D (45) | E (30) | F (80) | G (88) | H (109) | I (76) | J (9) | K (51) | L (35) | M (124) | N (53) | O (17) | P (143) | Q (1) | R (69) | S (130) | T (112) | U (26) | V (12) | W (12) | X (7) | Y (1) | Z (25)
HGNC GENE SYMBOL HGNC gene description OMIM NO DATABASE NAME/INTERNET ADDRESS CURATORS
L1CAM L1 cell adhesion molecule 308840 L1CAM Mutation Web Page Yvonne Vos, Department of clinical genetics, University Medical Center Groningen, Groningen , The Netherlands
L1CAM L1 cell adhesion molecule 308840 NGRL, Manchester L1CAM database Bharathi Kattamuri and Simon Ramsden
L1CAM L1 cell adhesion molecule 308840 L1 cell adhesion molecule (L1CAM) database at LOVD Yvonne Vos, Department of Genetics University Medical Center Groningen,The Netherlands
L2HGDH L-2-hydroxyglutarate dehydrogenase 609584 L-2-hydroxyglutarate dehydrogenase (L2HGDH) at LOVD Gajja Salomons
LAMA2 laminin, alpha 2 156225 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ. Med Centre, Leiden, The Netherlands
LAMP2 lysosomal-associated membrane protein 2 309060 LAMP2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LANCL3 LanC lantibiotic synthetase component C-like 3 (bacterial) \N LANCL3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LARGE like-glycosyltransferase 603590 Leiden Muscular Dystrophy Pages Johan den Dunnen, LUMC, Leiden, Nederland
LAS1L LAS1-like (S. cerevisiae) \N LAS1L database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LDB3 LIM domain binding 3 605906 LDB3 - Leiden Muscular Dystrophy pages Johan den Dunnen and Montse Olivé
LDLR low density lipoprotein receptor 606945 UMD Locus Specific Databases M. Varret, C. Boileau, INSERM,Hopital Necker, Enfants Malades,Paris
LDLR low density lipoprotein receptor 606945 Hypercholesterolemia, Familial Sarah Leigh, Dept. of Medicine, UCL
LDLRAP1 low density lipoprotein receptor adaptor protein 1 605747 Leiden Muscular Dystrophy pages Sarah Leigh
LEPRE1 leucine proline-enriched proteoglycan (leprecan) 1 610339 Database of osteogenesis imperfecta and Ehlers-Danlos syndrome variants Raymond Dalgleish, Leicester, U.K.
LHFPL1 lipoma HMGIC fusion partner-like 1 300566 LHFPL1 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LIG1 ligase I, DNA, ATP-dependent 126391 LIG1base: Mutation registry for DNA ligase I deficiency Mauno Vihinen, Univ. of Tampere, Tampere, Finland
LIG4 ligase IV, DNA, ATP-dependent 601837 LIG4base: Mutation registry for LIG4 syndrome Mauno Vihinen, Univ. of Tampere, Tampere, Finland
LIM2 lens intrinsic membrane protein 2, 19kDa 154045 LIM2 database at LOVD Johan T den Dunnen Leiden Univ. Med Centre
LITAF lipopolysaccharide-induced TNF factor 603795 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium
LMBRD1 LMBR1 domain containing 1 612625 Zhejiang University Center for Genetic and Genomic Medicine - LMBRD1 Ming Qi, PhD, FACMG, Peikuan Cong and Yanling Chen
LMNA lamin A/C 150330 The LMNA mutations database G. Bonne, France
LMNA lamin A/C 150330 Inherited Peripheral Neuropathies Mutation Database Eva Nelis, Molecular Genetics Department, Flanders Interuniversity, Institute for Biotechnology (VIB, University of Antwerp (UA), Belgium
LMNA lamin A/C 150330 Leiden Muscular Dystrophy Pages Johan T. den Dunnen, Leiden Univ. Medical Centre, Leiden, Netherlands
LONRF3 LON peptidase N-terminal domain and ring finger 3 \N LONRF3 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LPAR4 lysophosphatidic acid receptor 4 300086 LPAR4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LPIN2 lipin 2 605519 INFEVERS: The repertory of Familial Mediterranean Fever & Hereditary Inflammatory Disorders Mutations Hatem El-Shanti, Paediatrics, Jordan University of Science and Technology, Amman, Jordan
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 604863 Mutations of the Lecithin Retinol Acyltransferase Gene Retina International
LRCH2 leucine-rich repeats and calponin homology (CH) domain containing 2 \N LRCH2 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LRP5 low density lipoprotein receptor-related protein 5 603506 LOVD - Leiden Open Variation Database Wim van Hul
LRRC8A leucine rich repeat containing 8 family, member A 608360 LRRC8Abase: Mutation registry for Non-Bruton type autosomal dominant agammaglobulinemia Mauno Vihinen, Univ. of Tampere, Tampere, Finland
LRRK2 leucine-rich repeat kinase 2 609007 LRRK2 Parkinson's disease Mutation Database The Parkinson's Institute
LUZP4 leucine zipper protein 4 300616 LUZP4 database at LOVD Johan T. den Dunnen Leiden Univ. Med Centre (acting), Curator vacancy
LYST lysosomal trafficking regulator 606897 Albinism Database William S. Oetting, Int. Albinism Centre, Univ. of Minnesota, U.S.A.
LYST lysosomal trafficking regulator 606897 LYSTbase: Mutation registry for Chediak-Higashi syndrome (previously known as CHS1base) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
LYST lysosomal trafficking regulator 606897 Mutations of the Chediak Higashi Syndrome Retina International

Theme by Danetsoft and Danang Probo Sayekti inspired by Maksimer