LOVD - Leiden Open Variation Database
LOVD v.2.0 Build 34 [
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ABCA4 (ATP-binding cassette, sub-family A (ABC1), member 4)
ADAMTS10 (ADAM metallopeptidase with thrombospondin type 1 motif, 10)
ADAMTSL4 (ADAM metallopeptidase with thrombospondin type 1 motif, like 4)
AHI1 (Abelson helper integration site 1)
AIPL1 (Aryl hydrocarbon receptor interacting protein-like 1)
ARL6 (ADP-ribosylation factor-like 6)
BEST1 (Bestrophin 1)
BFSP1 (Beaded filament structural protein 1)
BFSP2 (Beaded filament structural protein 2)
C2orf71 (Chromosome 2 open reading frame 71)
CA4 (Carbonic anhydrase IV)
CACNA1F (Calcium channel, voltage-dependent, L type, alpha 1F subunit)
CACNA2D4 (calcium channel, voltage-dependent, alpha 2/delta subunit 4)
CC2D2A (Coiled-coil and C2 domain containing 2A)
CEP290 (Centrosomal protein 290kDa)
CFH (Complement factor H)
CHMP4B (Chromatin modifying protein 4B)
CRB1 (Crumbs homolog 1 (Drosophila))
CRX (cone-rod homeobox)
CRYAA (Crystallin, alpha-A)
CRYAB (Crystallin, alpha-B)
CRYBA1 (Crystallin, beta-A1)
CRYBA2 (crystallin, beta A2)
CRYBA4 (Crystallin, beta-A4)
CRYBB1 (Crystallin, beta-B1)
CRYBB2 (Crystallin, beta-B2)
CRYBB2P1 (Crystallin, beta B2 pseudogene 1)
CRYBB3 (Crystallin, beta-B3)
CRYGA (Crystallin, gamma A)
CRYGB (Crystallin, gamma B)
CRYGC (Crystallin, gamma-C)
CRYGD (Crystallin, gamma-D)
CRYGEP (Crystallin, gamma E, pseudogene)
CRYGS (Crystallin, gamma-S)
CRYM (Crystallin, mu)
ELOVL4 (ELOVL fatty acid elongase 4)
EYS (Eyes shut homolog (Drosophila))
FAM161A (family with sequence similarity 161, member A)
GCNT2 (glucosaminyl (N-acetyl) transferase 2)
GJA3 (Gap junction protein, alpha 3)
GJA8 (Gap junction protein, alpha 8)
GUCA1A (Guanylate cyclase activator 1A (retina))
GUCA1B (Guanylate cyclase activator 1B (retina))
GUCY2D (Guanylate cyclase 2D, membrane (retina-specific))
HSF4 (Heat shock transcription factor 4)
IMPDH1 (IMP (inosine 5'-monophosphate) dehydrogenase 1)
IMPG2 (Interphotoreceptor matrix proteoglycan 2)
INVS (Inversin)
LIM2 (Lens intrinsic membrane protein 2)
MAF (Musculoaponeurotic fibrosarcoma oncogene homolog (avian))
MYOC (Myocilin)
NPHP3 (Nephronophthisis 3 (adolescent))
NPHP4 (Nephronophthisis 4)
NR2E3 (nuclear receptor subfamily 2, group E, member 3)
NRL (Neural retina leucine zipper)
NYX (Nyctalopin)
OPA3 (optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia))
PDE6B (Phosphodiesterase 6B, cGMP-specific, rod, beta)
PDE6G (phosphodiesterase 6G, cGMP-specific, rod, gamma)
PITX3 (Paired-like homeodomain 3)
PROM1 (Prominin 1)
PRPF31 (PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae))
PRPH2 (Peripherin 2 (retinal degeneration, slow))
RDH12 (Retinol dehydrogenase 12 (all-trans/9-cis/11-cis))
RGR (Retinal G protein coupled receptor)
RHO (Rhodopsin)
RIMS1 (Regulating synaptic membrane exocytosis 1)
RLBP1 (Retinaldehyde binding protein 1)
RP1 (Retinitis pigmentosa 1 (autosomal dominant))
RP1L1 (retinitis pigmentosa 1-like 1)
RP2 (Retinitis pigmentosa 2 (X-linked recessive))
RP9 (Retinitis pigmentosa 9 (autosomal dominant))
RPE65 (Retinal pigment epithelium-specific protein 65kDa)
RPGR (Retinitis pigmentosa GTPase regulator)
RPGRIP1 (retinitis pigmentosa GTPase regulator interacting protein 1)
RPGRIP1L (RPGRIP1-like)
RS1 (Retinoschisis 1 (X-linked, juveline))
SEMA4A (sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic ...)))
SNRNP200 (Small nuclear ribonucleoprotein 200kDa (U5))
SPATA7 (Spermatogenesis associated 7)
TMEM114 (Transmembrane protein 114)
TMEM126A (Transmembrane protein 126A)
TOPORS (topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase)
TRPM1 (Transient receptor potential cation channel, subfamily M, member 1)
VIM (Vimentin)
VSX1 (Visual system homeobox 1)
ZNF513 (zinc finger protein 513)
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LOVD v.2.0
Build 34
©2004-2012
Leiden University Medical Center