RPE65 (retinoid isomerohydrolase RPE65) - Rat Genome Database

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Gene: RPE65 (retinoid isomerohydrolase RPE65) Homo sapiens
Analyze
Symbol: RPE65
Name: retinoid isomerohydrolase RPE65
RGD ID: 732416
HGNC Page HGNC:10294
Description: Enables all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity and isomerase activity. Involved in detection of light stimulus involved in visual perception; retina homeostasis; and terpenoid metabolic process. Located in endoplasmic reticulum membrane. Implicated in Leber congenital amaurosis 2; retinitis pigmentosa; retinitis pigmentosa 20; and retinitis pigmentosa 87. Biomarker of basal cell carcinoma and squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: all-trans-retinyl-palmitate hydrolase; BCO family, member 3; BCO3; LCA2; lutein isomerase; meso-zeaxanthin isomerase; mRPE65; p63; RBP-binding membrane protein; rd12; retinal pigment epithelium specific protein 65; retinal pigment epithelium, 65 kda; retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific protein 65kDa; retinitis pigmentosa 20 (autosomal recessive); retinoid isomerohydrolase; retinol isomerase; RP20; RPE65, retinoid isomerohydrolase; sRPE65
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38168,428,822 - 68,449,954 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl168,428,822 - 68,449,954 (-)EnsemblGRCh38hg38GRCh38
GRCh37168,894,505 - 68,915,637 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36168,667,095 - 68,688,230 (-)NCBINCBI36Build 36hg18NCBI36
Build 34168,606,465 - 68,627,663NCBI
Celera167,184,748 - 67,205,854 (-)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef167,004,313 - 67,025,452 (-)NCBIHuRef
CHM1_1169,009,866 - 69,031,001 (-)NCBICHM1_1
T2T-CHM13v2.0168,306,207 - 68,327,339 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corneal endothelium morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal optic disc morphology  (IAGP)
Abnormal pupillary light reflex  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of vision  (IAGP)
Absent foveal reflex  (IAGP)
Adrenocorticotropic hormone deficiency  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the cerebellar vermis  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Atypical scarring of skin  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Blurred vision  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Cataract  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Childhood onset  (IAGP)
Chorioretinal atrophy  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congenital blindness  (IAGP)
Delayed social development  (IAGP)
Encephalocele  (IAGP)
Exotropia  (IAGP)
Eye poking  (IAGP)
Fundus atrophy  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Granular macular appearance  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Keratoconus  (IAGP)
Macular coloboma  (IAGP)
Mild global developmental delay  (IAGP)
Myopia  (IAGP)
Nummular pigmentation of the fundus  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc drusen  (IAGP)
Optic disc pallor  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Pigmentary retinopathy  (IAGP)
Posterior subcapsular cataract  (IAGP)
Posterior synechiae of the anterior chamber  (IAGP)
Postural instability  (IAGP)
Progressive night blindness  (IAGP)
Reduced visual acuity  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinal pigment epithelial atrophy  (IAGP)
Rhegmatogenous retinal detachment  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced visual acuity  (IAGP)
Type II diabetes mellitus  (IAGP)
Undetectable electroretinogram  (IAGP)
Undetectable light- and dark-adapted electroretinogram  (IAGP)
Unsteady gait  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Bowne SJ, etal., Eur J Hum Genet. 2011 Oct;19(10):1074-81. doi: 10.1038/ejhg.2011.86. Epub 2011 Jun 8.
2. RPE65 gene delivery restores isomerohydrolase activity and prevents early cone loss in Rpe65-/- mice. Chen Y, etal., Invest Ophthalmol Vis Sci. 2006 Mar;47(3):1177-84.
3. Genes and mutations causing retinitis pigmentosa. Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Expression of RPE65, a putative receptor for plasma retinol-binding protein, in nonmelanocytic skin tumours. Hinterhuber G, etal., Br J Dermatol. 2005 Oct;153(4):785-9.
6. Retinal gene expression and visually evoked behavior in diabetic long evans rats. Kirwin SJ, etal., Invest Ophthalmol Vis Sci. 2011 Sep 29;52(10):7654-63. doi: 10.1167/iovs.10-6609.
7. Key enzymes of the retinoid (visual) cycle in vertebrate retina. Kiser PD, etal., Biochim Biophys Acta. 2012 Jan;1821(1):137-51. Epub 2011 Apr 5.
8. Alpha-phenyl-N-tert-butylnitrone (PBN) prevents light-induced degeneration of the retina by inhibiting RPE65 protein isomerohydrolase activity. Mandal MN, etal., J Biol Chem. 2011 Sep 16;286(37):32491-501. Epub 2011 Jul 24.
9. Experimental autoimmune uveitis induced by immunization with retinal pigment epithelium-specific 65-kDa protein peptides. Nakamura H, etal., Curr Eye Res. 2005 Aug;30(8):673-80.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
16. R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal. Samardzija M, etal., Hum Mol Genet. 2008 Jan 15;17(2):281-92. Epub 2007 Oct 12.
17. Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosa. Wang NK, etal., Transplantation. 2010 Apr 27;89(8):911-9. doi: 10.1097/TP.0b013e3181d45a61.
18. Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis. Woodruff ML, etal., Nat Genet 2003 Oct;35(2):158-64. Epub 2003 Sep 21.
19. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
20. The Rpe65 rd12 allele exerts a semidominant negative effect on vision in mice. Wright CB, etal., Invest Ophthalmol Vis Sci. 2014 Apr 17;55(4):2500-15. doi: 10.1167/iovs.13-13574.
Additional References at PubMed
PMID:1331074   PMID:7633413   PMID:8034329   PMID:8340400   PMID:8474143   PMID:9326927   PMID:9326941   PMID:9328280   PMID:9501220   PMID:9501877   PMID:9801879   PMID:9843205  
PMID:10386590   PMID:10766140   PMID:11462243   PMID:11727200   PMID:11786058   PMID:12357075   PMID:12477932   PMID:12960219   PMID:14962443   PMID:15009723   PMID:15489334   PMID:15557452  
PMID:15837919   PMID:16096063   PMID:16116091   PMID:16150724   PMID:16198348   PMID:16272259   PMID:16518657   PMID:16754667   PMID:17197551   PMID:17651254   PMID:17724218   PMID:17848510  
PMID:18216020   PMID:18484312   PMID:18539930   PMID:18599565   PMID:18722466   PMID:18766986   PMID:18774912   PMID:19049981   PMID:19117922   PMID:19431183   PMID:19753312   PMID:19805034  
PMID:19806502   PMID:19920137   PMID:19959640   PMID:20043869   PMID:20301475   PMID:20301590   PMID:20356843   PMID:20399883   PMID:20510285   PMID:20591486   PMID:20801516   PMID:20811047  
PMID:21211845   PMID:21736383   PMID:21873635   PMID:21911650   PMID:21931134   PMID:22171060   PMID:22509104   PMID:23335596   PMID:23341016   PMID:23878505   PMID:24771178   PMID:24849605  
PMID:25112876   PMID:25257057   PMID:25286304   PMID:25351180   PMID:25495949   PMID:25752820   PMID:25972377   PMID:26364624   PMID:26392743   PMID:26427430   PMID:26427455   PMID:26626312  
PMID:26906952   PMID:27307694   PMID:28514442   PMID:28874556   PMID:29659842   PMID:29676528   PMID:29681726   PMID:29869534   PMID:29947567   PMID:29987050   PMID:30025081   PMID:30268864  
PMID:30285347   PMID:30870047   PMID:30996589   PMID:31273949   PMID:31441327   PMID:31580392   PMID:31595490   PMID:31725251   PMID:31878136   PMID:31925606   PMID:31954326   PMID:31957135  
PMID:32014860   PMID:32032261   PMID:32061750   PMID:32367544   PMID:32535767   PMID:33027920   PMID:33261050   PMID:33512609   PMID:33684911   PMID:33838313   PMID:33952291   PMID:33961781  
PMID:34157943   PMID:34281261   PMID:34440435   PMID:34492281   PMID:35098484   PMID:35129589   PMID:35726567   PMID:36017377  


Genomics

Comparative Map Data
RPE65
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38168,428,822 - 68,449,954 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl168,428,822 - 68,449,954 (-)EnsemblGRCh38hg38GRCh38
GRCh37168,894,505 - 68,915,637 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36168,667,095 - 68,688,230 (-)NCBINCBI36Build 36hg18NCBI36
Build 34168,606,465 - 68,627,663NCBI
Celera167,184,748 - 67,205,854 (-)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef167,004,313 - 67,025,452 (-)NCBIHuRef
CHM1_1169,009,866 - 69,031,001 (-)NCBICHM1_1
T2T-CHM13v2.0168,306,207 - 68,327,339 (-)NCBIT2T-CHM13v2.0
Rpe65
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393159,304,712 - 159,330,944 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3159,304,812 - 159,330,958 (+)EnsemblGRCm39 Ensembl
GRCm383159,599,075 - 159,625,307 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3159,599,175 - 159,625,321 (+)EnsemblGRCm38mm10GRCm38
MGSCv373159,262,145 - 159,288,271 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363159,534,526 - 159,560,092 (+)NCBIMGSCv36mm8
Celera3166,038,618 - 166,064,587 (+)NCBICelera
Cytogenetic Map3H4NCBI
cM Map382.52NCBI
Rpe65
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22248,766,497 - 248,798,403 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2248,766,612 - 248,798,403 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2256,482,408 - 256,514,178 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.02254,375,936 - 254,407,703 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.02249,342,889 - 249,374,020 (+)NCBIRnor_WKY
Rnor_6.02266,141,581 - 266,169,197 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2266,141,581 - 266,169,197 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02284,774,159 - 284,804,254 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.12257,860,998 - 257,893,921 (+)NCBI
Celera2240,512,281 - 240,537,640 (+)NCBICelera
Cytogenetic Map2q45NCBI
Rpe65
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542323,183,937 - 23,208,282 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542323,184,326 - 23,208,206 (+)NCBIChiLan1.0ChiLan1.0
RPE65
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1169,623,775 - 69,644,894 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl169,623,775 - 69,644,904 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0167,666,784 - 67,687,891 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
RPE65
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1676,887,399 - 76,911,133 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl676,887,399 - 76,911,131 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha679,498,666 - 79,521,615 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0677,481,101 - 77,504,927 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl677,481,101 - 77,504,925 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1677,031,835 - 77,055,739 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0676,935,191 - 76,959,205 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0677,422,281 - 77,446,314 (+)NCBIUU_Cfam_GSD_1.0
Rpe65
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505881,055,133 - 81,142,276 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365913,347,272 - 3,368,015 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365913,347,346 - 3,368,062 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPE65
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6144,206,078 - 144,229,467 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16144,206,078 - 144,229,471 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26133,491,901 - 133,514,217 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RPE65
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12064,662,777 - 64,684,178 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2064,664,358 - 64,683,211 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603352,929,980 - 52,950,761 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rpe65
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474227,302,453 - 27,319,203 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474227,302,222 - 27,319,549 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RPE65
558 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000329.3(RPE65):c.95-212A>G single nucleotide variant not provided [RCV001608914] Chr1:68447072 [GRCh38]
Chr1:68912755 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) single nucleotide variant Leber congenital amaurosis 2 [RCV000542372]|Leber congenital amaurosis [RCV000754974] Chr1:68444607 [GRCh38]
Chr1:68910290 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|uncertain significance
RPE65, IVS1, G-A, +5 single nucleotide variant Retinitis pigmentosa 20 [RCV000022751]|Leber congenital amaurosis 2 [RCV000022752] Chr1:1p31 pathogenic
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) single nucleotide variant Leber congenital amaurosis 2 [RCV000022754]|Leber congenital amaurosis 2 [RCV001054426]|not provided [RCV000085161] Chr1:68431328 [GRCh38]
Chr1:68897011 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|not provided
RPE65, 1-BP DEL, 1067A deletion Leber congenital amaurosis 2 [RCV000013992] Chr1:1p31 pathogenic
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) single nucleotide variant Leber congenital amaurosis 2 [RCV001304649]|Retinitis pigmentosa 20 [RCV000013995]|not provided [RCV000085169] Chr1:68431160 [GRCh38]
Chr1:68896843 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) single nucleotide variant Leber congenital amaurosis 2 [RCV000014000]|Leber congenital amaurosis 2 [RCV000816506]|Leber congenital amaurosis [RCV001826461]|Retinitis pigmentosa 20 [RCV000013999]|Retinitis pigmentosa [RCV000132583]|not provided [RCV000085176] Chr1:68429835 [GRCh38]
Chr1:68895518 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|not provided
NM_000329.3(RPE65):c.449A>G (p.Asn150Ser) single nucleotide variant not provided [RCV000728310] Chr1:68444577 [GRCh38]
Chr1:68910260 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.94+10G>A single nucleotide variant Leber congenital amaurosis 2 [RCV001468497]|Leber congenital amaurosis [RCV001825450]|not provided [RCV000729049] Chr1:68448614 [GRCh38]
Chr1:68914297 [GRCh37]
Chr1:1p31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV000305340]|Leber congenital amaurosis 2 [RCV002502181]|Retinitis pigmentosa [RCV000360661] Chr1:68439204 [GRCh38]
Chr1:68904887 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) single nucleotide variant Leber congenital amaurosis 2 [RCV000022750]|Leber congenital amaurosis 2 [RCV001054423]|Leber congenital amaurosis [RCV001275328]|RPE65-Related Disorders [RCV000348257]|Retinitis pigmentosa 20 [RCV000022749]|Retinitis pigmentosa [RCV000787920]|not provided [RCV000085150] Chr1:68438213 [GRCh38]
Chr1:68903896 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV000022753]|Leber congenital amaurosis 2 [RCV002490403]|not provided [RCV000085231] Chr1:68439033 [GRCh38]
Chr1:68904716 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV000013993]|Leber congenital amaurosis 2 [RCV001236263]|Leber congenital amaurosis [RCV001831567]|Retinitis pigmentosa 20 [RCV001376448]|not provided [RCV000085219] Chr1:68439586 [GRCh38]
Chr1:68905269 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) single nucleotide variant Abnormality of the eye [RCV001813981]|Autosomal recessive retinitis pigmentosa [RCV001257818]|Leber congenital amaurosis 2 [RCV000527143]|Leber congenital amaurosis 2 [RCV001250682]|Leber congenital amaurosis [RCV001275337]|Retinal dystrophy [RCV001073556]|Retinitis pigmentosa 20 [RCV000013994]|Retinitis pigmentosa 20 [RCV001095690]|Retinitis pigmentosa [RCV000787698]|not provided [RCV000085184] Chr1:68444858 [GRCh38]
Chr1:68910541 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|not provided
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) single nucleotide variant Leber congenital amaurosis 2 [RCV000815732]|Leber congenital amaurosis 2 [RCV001250693]|Leber congenital amaurosis [RCV001826460]|Retinitis pigmentosa 20 [RCV000013996] Chr1:68438228 [GRCh38]
Chr1:68903911 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV000986328]|Leber congenital amaurosis 2 [RCV001047062]|Leber congenital amaurosis 2 [RCV002496352]|Leber congenital amaurosis [RCV001831568]|Retinitis pigmentosa 20 [RCV000013997]|not provided [RCV000085141] Chr1:68438293 [GRCh38]
Chr1:68903976 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) single nucleotide variant Leber congenital amaurosis 2 [RCV000665910]|Leber congenital amaurosis 2 [RCV000986331]|Leber congenital amaurosis [RCV001278137]|Retinitis pigmentosa 20 [RCV000013998]|not provided [RCV000085196]|not specified [RCV002265555] Chr1:68444632 [GRCh38]
Chr1:68910315 [GRCh37]
Chr1:1p31.3
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 copy number loss See cases [RCV000050703] Chr1:60473800..70944955 [GRCh38]
Chr1:60939472..71410638 [GRCh37]
Chr1:60712060..71183226 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1
pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 copy number loss See cases [RCV000053841] Chr1:57350574..71325924 [GRCh38]
Chr1:57816246..71791607 [GRCh37]
Chr1:57588834..71564195 [NCBI36]
Chr1:1p32.2-31.1
pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:67239704-71924806)x1 copy number loss See cases [RCV000053843] Chr1:67239704..71924806 [GRCh38]
Chr1:67705387..72390489 [GRCh37]
Chr1:67477975..72163077 [NCBI36]
Chr1:1p31.3-31.1
pathogenic
NM_000329.2(RPE65):c.223G>A (p.Gly75Arg) single nucleotide variant Malignant melanoma [RCV000064875] Chr1:68446732 [GRCh38]
Chr1:68912415 [GRCh37]
Chr1:68685003 [NCBI36]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.89dup (p.Thr31fs) duplication Retinitis pigmentosa 20 [RCV001376508]|not provided [RCV000085230] Chr1:68448628..68448629 [GRCh38]
Chr1:68914311..68914312 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) single nucleotide variant Leber congenital amaurosis 2 [RCV000552728]|Leber congenital amaurosis 2 [RCV001097019]|Leber congenital amaurosis 2 [RCV002483132]|Leber congenital amaurosis [RCV001275283]|Retinitis pigmentosa [RCV001097020]|not provided [RCV000085227]|not specified [RCV000078655] Chr1:68439059 [GRCh38]
Chr1:68904742 [GRCh37]
Chr1:1p31.3
benign|likely benign|not provided
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) single nucleotide variant Joubert syndrome 9 [RCV001258234]|Leber congenital amaurosis 2 [RCV000945854]|Leber congenital amaurosis 2 [RCV001102426]|Leber congenital amaurosis [RCV001275282]|Retinitis pigmentosa [RCV001102427]|not provided [RCV001727561]|not specified [RCV000078656] Chr1:68438977 [GRCh38]
Chr1:68904660 [GRCh37]
Chr1:1p31.3
benign|likely benign|uncertain significance
NM_000329.3(RPE65):c.1046_1047insTGG (p.Asn349_Trp350insGly) insertion not provided [RCV000085142] Chr1:68438268..68438269 [GRCh38]
Chr1:68903951..68903952 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.1053A>G (p.Glu351=) single nucleotide variant not provided [RCV000085143] Chr1:68438262 [GRCh38]
Chr1:68903945 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) single nucleotide variant Leber congenital amaurosis 2 [RCV000299398]|Leber congenital amaurosis 2 [RCV001522164]|Leber congenital amaurosis [RCV001275329]|Retinitis pigmentosa 87 with choroidal involvement [RCV001533576]|Retinitis pigmentosa [RCV000395443]|not provided [RCV000085144]|not specified [RCV000212977] Chr1:68438259 [GRCh38]
Chr1:68903942 [GRCh37]
Chr1:1p31.3
benign|likely benign|not provided
NM_000329.3(RPE65):c.1067del (p.Asn356fs) deletion Leber congenital amaurosis 2 [RCV000013992]|Leber congenital amaurosis 2 [RCV001383022]|Leber congenital amaurosis [RCV001826772]|RPE65-related recessive retinopathy [RCV002466426]|not provided [RCV000085145] Chr1:68438248 [GRCh38]
Chr1:68903931 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.106_114del (p.Leu36_Leu38del) deletion not provided [RCV000085146] Chr1:68446841..68446849 [GRCh38]
Chr1:68912524..68912532 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.1078G>C (p.Ala360Pro) single nucleotide variant Leber congenital amaurosis 2 [RCV001854496]|not provided [RCV000085147] Chr1:68438237 [GRCh38]
Chr1:68903920 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.11+34T>A single nucleotide variant not provided [RCV000085148] Chr1:68449861 [GRCh38]
Chr1:68915544 [GRCh37]
Chr1:1p31.3
benign|not provided
NM_000329.3(RPE65):c.11+5G>A single nucleotide variant Leber congenital amaurosis 2 [RCV000022752]|Leber congenital amaurosis 2 [RCV000524808]|Leber congenital amaurosis 2 [RCV002498448]|Leber congenital amaurosis [RCV001275342]|Retinal dystrophy [RCV000505050]|Retinitis pigmentosa 20 [RCV000678614]|not provided [RCV000085149] Chr1:68449890 [GRCh38]
Chr1:68915573 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|not provided
NM_000329.3(RPE65):c.1103A>G (p.Tyr368Cys) single nucleotide variant not provided [RCV000085151] Chr1:68438212 [GRCh38]
Chr1:68903895 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.1120del (p.Ile374fs) deletion not provided [RCV000085152] Chr1:68438195 [GRCh38]
Chr1:68903878 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) single nucleotide variant Leber congenital amaurosis 2 [RCV000666107]|Leber congenital amaurosis 2 [RCV001098671]|Leber congenital amaurosis 2 [RCV002498449]|Retinitis pigmentosa [RCV001098672]|not provided [RCV000085153]|not specified [RCV001699203] Chr1:68431559 [GRCh38]
Chr1:68897242 [GRCh37]
Chr1:1p31.3
benign|likely benign|not provided
NM_000329.3(RPE65):c.1178C>G (p.Ala393Gly) single nucleotide variant not provided [RCV000085154] Chr1:68431536 [GRCh38]
Chr1:68897219 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV001047503]|Leber congenital amaurosis 2 [RCV001250675]|Leber congenital amaurosis 2 [RCV002498450]|Leber congenital amaurosis [RCV001275340]|Retinal dystrophy [RCV001074416]|Retinitis pigmentosa [RCV000132582]|not provided [RCV000085155] Chr1:68446837 [GRCh38]
Chr1:68912520 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.1207_1210dup (p.Glu404fs) microsatellite Leber congenital amaurosis 2 [RCV001383021]|not provided [RCV000085156] Chr1:68431503..68431504 [GRCh38]
Chr1:68897186..68897187 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.1208T>C (p.Leu403Pro) single nucleotide variant not provided [RCV000085157] Chr1:68431506 [GRCh38]
Chr1:68897189 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala) single nucleotide variant Leber congenital amaurosis 2 [RCV001339104]|Leber congenital amaurosis [RCV001835681]|not provided [RCV000085158] Chr1:68431494 [GRCh38]
Chr1:68897177 [GRCh37]
Chr1:1p31.3
uncertain significance|not provided
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) single nucleotide variant Leber congenital amaurosis 2 [RCV001041992]|Leber congenital amaurosis 2 [RCV001089894]|not provided [RCV000085159] Chr1:68431491 [GRCh38]
Chr1:68897174 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) single nucleotide variant Leber congenital amaurosis 2 [RCV001323215]|Retinal dystrophy [RCV001074061]|not provided [RCV000085160] Chr1:68431371 [GRCh38]
Chr1:68897054 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance|not provided
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) single nucleotide variant Leber congenital amaurosis 2 [RCV000539372]|Leber congenital amaurosis 2 [RCV001096917]|Leber congenital amaurosis 2 [RCV002490739]|Leber congenital amaurosis [RCV001273331]|Retinitis pigmentosa [RCV001096918]|not provided [RCV000085162]|not specified [RCV000327489] Chr1:68431319 [GRCh38]
Chr1:68897002 [GRCh37]
Chr1:1p31.3
benign|likely benign|not provided
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) single nucleotide variant Leber congenital amaurosis 2 [RCV000665554]|Leber congenital amaurosis 2 [RCV001096914]|Retinitis pigmentosa [RCV001096913]|not provided [RCV000085163]|not specified [RCV001699121] Chr1:68431318 [GRCh38]
Chr1:68897001 [GRCh37]
Chr1:1p31.3
benign|likely benign|not provided
NM_000329.3(RPE65):c.1304A>G (p.Tyr435Cys) single nucleotide variant not provided [RCV000085164] Chr1:68431316 [GRCh38]
Chr1:68896999 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.1307G>T (p.Gly436Val) single nucleotide variant not provided [RCV000085165] Chr1:68431313 [GRCh38]
Chr1:68896996 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257816]|Leber congenital amaurosis 2 [RCV000701390]|Leber congenital amaurosis 2 [RCV001250676]|Leber congenital amaurosis [RCV001275338]|Retinitis pigmentosa 20 [RCV001808321]|not provided [RCV000085166] Chr1:68446824 [GRCh38]
Chr1:68912507 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|not provided
NM_000329.3(RPE65):c.1338+20A>C single nucleotide variant Leber congenital amaurosis 2 [RCV000665902]|Leber congenital amaurosis 2 [RCV001533574]|Retinitis pigmentosa 87 with choroidal involvement [RCV001533575]|not provided [RCV000085167]|not specified [RCV000212978] Chr1:68431262 [GRCh38]
Chr1:68896945 [GRCh37]
Chr1:1p31.3
benign|not provided
NM_000329.3(RPE65):c.1350G>T (p.Leu450=) single nucleotide variant not provided [RCV000085168] Chr1:68431165 [GRCh38]
Chr1:68896848 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.138del (p.Pro47fs) deletion Leber congenital amaurosis 2 [RCV001250677]|not provided [RCV000085170] Chr1:68446817 [GRCh38]
Chr1:68912500 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.1370C>A (p.Thr457Asn) single nucleotide variant not provided [RCV000085171] Chr1:68431145 [GRCh38]
Chr1:68896828 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV001250694]|Retinitis pigmentosa 20 [RCV001376503]|not provided [RCV000085172] Chr1:68431131 [GRCh38]
Chr1:68896814 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|not provided
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp) single nucleotide variant Leber congenital amaurosis 2 [RCV001250706]|Leber congenital amaurosis 2 [RCV001257424]|not provided [RCV000085173] Chr1:68431097 [GRCh38]
Chr1:68896780 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.1451-22C>T single nucleotide variant not provided [RCV000085174] Chr1:68429949 [GRCh38]
Chr1:68895632 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp) single nucleotide variant Leber congenital amaurosis 2 [RCV001250703]|Leber congenital amaurosis 2 [RCV001854497]|Leber congenital amaurosis [RCV001826773]|not provided [RCV000085175] Chr1:68429927 [GRCh38]
Chr1:68895610 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr) single nucleotide variant Leber congenital amaurosis 2 [RCV001237268]|Leber congenital amaurosis [RCV001826774]|not provided [RCV000085177] Chr1:68429819 [GRCh38]
Chr1:68895502 [GRCh37]
Chr1:1p31.3
uncertain significance|not provided
NM_000329.3(RPE65):c.1590del (p.Phe530fs) deletion not provided [RCV000085178] Chr1:68429788 [GRCh38]
Chr1:68895471 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.202C>T (p.His68Tyr) single nucleotide variant not provided [RCV000085179] Chr1:68446753 [GRCh38]
Chr1:68912436 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.208_209delinsGG (p.Phe70Gly) indel not provided [RCV000085180] Chr1:68446746..68446747 [GRCh38]
Chr1:68912429..68912430 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.231C>A (p.Val77=) single nucleotide variant not provided [RCV000085181] Chr1:68446724 [GRCh38]
Chr1:68912407 [GRCh37]
Chr1:1p31.3
benign|not provided
NM_000329.3(RPE65):c.235T>C (p.Tyr79His) single nucleotide variant not provided [RCV000085182] Chr1:68446720 [GRCh38]
Chr1:68912403 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.254G>A (p.Arg85His) single nucleotide variant not provided [RCV000085183] Chr1:68444875 [GRCh38]
Chr1:68910558 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.271_272insA (p.Arg91fs) insertion not provided [RCV000085185] Chr1:68444857..68444858 [GRCh38]
Chr1:68910540..68910541 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) single nucleotide variant Leber congenital amaurosis 2 [RCV001061074]|Leber congenital amaurosis 2 [RCV002247485]|Leber congenital amaurosis [RCV001275336]|Retinitis pigmentosa [RCV001731373]|not provided [RCV000085186] Chr1:68444857 [GRCh38]
Chr1:68910540 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro) single nucleotide variant Leber congenital amaurosis 2 [RCV001250683]|not provided [RCV000085187] Chr1:68444857 [GRCh38]
Chr1:68910540 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.283G>C (p.Glu95Gln) single nucleotide variant not provided [RCV000085188] Chr1:68444846 [GRCh38]
Chr1:68910529 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) deletion Leber congenital amaurosis 2 [RCV000815030]|Leber congenital amaurosis 2 [RCV000986333]|Leber congenital amaurosis [RCV000754976]|not provided [RCV000085189] Chr1:68444818..68444837 [GRCh38]
Chr1:68910501..68910520 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.2T>C (p.Met1Thr) single nucleotide variant Leber congenital amaurosis 2 [RCV001377675]|Retinitis pigmentosa 20 [RCV001376504]|not provided [RCV000085190] Chr1:68449904 [GRCh38]
Chr1:68915587 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys) single nucleotide variant not provided [RCV000085191] Chr1:68444825 [GRCh38]
Chr1:68910508 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV000763389]|Leber congenital amaurosis [RCV001275333]|RPE65-Related Disorders [RCV001249229]|not provided [RCV000085192] Chr1:68444825 [GRCh38]
Chr1:68910508 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|not provided
NM_000329.3(RPE65):c.311G>T (p.Gly104Val) single nucleotide variant Leber congenital amaurosis 2 [RCV001588914]|not provided [RCV000085193] Chr1:68444818 [GRCh38]
Chr1:68910501 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.353+1G>T single nucleotide variant not provided [RCV000085194] Chr1:68444775 [GRCh38]
Chr1:68910458 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV000538669]|Leber congenital amaurosis 2 [RCV000986332]|Leber congenital amaurosis 2 [RCV002490740]|Leber congenital amaurosis [RCV001275332]|not provided [RCV000085195] Chr1:68444656 [GRCh38]
Chr1:68910339 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.399T>C (p.Leu133=) single nucleotide variant Leber congenital amaurosis 2 [RCV001081695]|Leber congenital amaurosis 2 [RCV001102526]|Leber congenital amaurosis [RCV001275331]|Retinitis pigmentosa [RCV001102525]|not provided [RCV000085197] Chr1:68444627 [GRCh38]
Chr1:68910310 [GRCh37]
Chr1:1p31.3
benign|likely benign|uncertain significance|not provided
NM_000329.3(RPE65):c.430T>G (p.Tyr144Asp) single nucleotide variant Leber congenital amaurosis 2 [RCV001854498]|not provided [RCV000085198] Chr1:68444596 [GRCh38]
Chr1:68910279 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) single nucleotide variant Leber congenital amaurosis 2 [RCV001082128]|Leber congenital amaurosis 2 [RCV001102524]|Leber congenital amaurosis [RCV001831893]|Retinitis pigmentosa [RCV001102523]|not provided [RCV000085199] Chr1:68444594 [GRCh38]
Chr1:68910277 [GRCh37]
Chr1:1p31.3
benign|uncertain significance|not provided
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp) single nucleotide variant Leber congenital amaurosis 2 [RCV001250685]|not provided [RCV000085200] Chr1:68444582 [GRCh38]
Chr1:68910265 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.48T>C (p.Phe16=) single nucleotide variant Leber congenital amaurosis 2 [RCV000332977]|Leber congenital amaurosis 2 [RCV000674828]|Leber congenital amaurosis [RCV001275290]|Retinitis pigmentosa [RCV000296314]|not provided [RCV000085201]|not specified [RCV001699122] Chr1:68448670 [GRCh38]
Chr1:68914353 [GRCh37]
Chr1:1p31.3
benign|likely benign|uncertain significance|not provided
NM_000329.3(RPE65):c.495+1dup duplication Leber congenital amaurosis 2 [RCV001857420]|not provided [RCV000085202] Chr1:68444529..68444530 [GRCh38]
Chr1:68910212..68910213 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr) single nucleotide variant Leber congenital amaurosis 2 [RCV001245153]|Leber congenital amaurosis 2 [RCV001250708]|Leber congenital amaurosis [RCV001831894]|RPE65-Related Disorders [RCV000778252]|Retinitis pigmentosa 20 [RCV000678617]|not provided [RCV000085203] Chr1:68440997 [GRCh38]
Chr1:68906680 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000329.3(RPE65):c.544C>A (p.His182Asn) single nucleotide variant Leber congenital amaurosis 2 [RCV001250687]|not provided [RCV000085204] Chr1:68440952 [GRCh38]
Chr1:68906635 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.544C>T (p.His182Tyr) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257821]|Leber congenital amaurosis 2 [RCV001388257]|not provided [RCV000085205] Chr1:68440952 [GRCh38]
Chr1:68906635 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.570C>T (p.Tyr190=) single nucleotide variant not provided [RCV000085206] Chr1:68440926 [GRCh38]
Chr1:68906609 [GRCh37]
Chr1:1p31.3
benign|not provided
NM_000329.3(RPE65):c.57_58del (p.Glu20fs) deletion Retinal dystrophy [RCV001075170]|not provided [RCV000085207] Chr1:68448660..68448661 [GRCh38]
Chr1:68914343..68914344 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.609C>T (p.Ala203=) single nucleotide variant not provided [RCV000085208] Chr1:68440887 [GRCh38]
Chr1:68906570 [GRCh37]
Chr1:1p31.3
benign|not provided
NM_000329.3(RPE65):c.614A>G (p.Asn205Ser) single nucleotide variant not provided [RCV000085209] Chr1:68440882 [GRCh38]
Chr1:68906565 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.615_616del (p.Ile206fs) deletion Leber congenital amaurosis 2 [RCV001250700]|Leber congenital amaurosis 2 [RCV001388255]|not provided [RCV000085210] Chr1:68440880..68440881 [GRCh38]
Chr1:68906563..68906564 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.643+1G>C single nucleotide variant not provided [RCV000085211] Chr1:68440852 [GRCh38]
Chr1:68906535 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.643+5G>A single nucleotide variant not provided [RCV000085212]|not specified [RCV001844037] Chr1:68440848 [GRCh38]
Chr1:68906531 [GRCh37]
Chr1:1p31.3
uncertain significance|not provided
NM_000329.3(RPE65):c.644-1G>T single nucleotide variant not provided [RCV000085213] Chr1:68439643 [GRCh38]
Chr1:68905326 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.644-2A>T single nucleotide variant not provided [RCV000085214] Chr1:68439644 [GRCh38]
Chr1:68905327 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.644-42del deletion Leber congenital amaurosis 2 [RCV000670924]|not provided [RCV000085215] Chr1:68439684 [GRCh38]
Chr1:68905367 [GRCh37]
Chr1:1p31.3
likely benign|not provided
NM_000329.3(RPE65):c.644-43del deletion Leber congenital amaurosis 2 [RCV000666254]|not provided [RCV000085216] Chr1:68439685 [GRCh38]
Chr1:68905368 [GRCh37]
Chr1:1p31.3
likely benign|not provided
NM_000329.3(RPE65):c.644A>G (p.Asp215Gly) single nucleotide variant not provided [RCV000085217] Chr1:68439642 [GRCh38]
Chr1:68905325 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro) single nucleotide variant Leber congenital amaurosis 2 [RCV001218527]|Leber congenital amaurosis 2 [RCV001250672]|Leber congenital amaurosis [RCV002222384]|not provided [RCV000085218] Chr1:68448653 [GRCh38]
Chr1:68914336 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|not provided
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) single nucleotide variant Leber congenital amaurosis 2 [RCV000678618]|Leber congenital amaurosis 2 [RCV001207227]|Leber congenital amaurosis [RCV001831895]|not provided [RCV000085220] Chr1:68439571 [GRCh38]
Chr1:68905254 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.725+4A>G single nucleotide variant not provided [RCV000085221] Chr1:68439557 [GRCh38]
Chr1:68905240 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.778_785del (p.Asn260fs) deletion not provided [RCV000085222] Chr1:68439264..68439271 [GRCh38]
Chr1:68904947..68904954 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.858+1G>A single nucleotide variant Leber congenital amaurosis 2 [RCV001250702]|Leber congenital amaurosis 2 [RCV001388254]|not provided [RCV000085223] Chr1:68439190 [GRCh38]
Chr1:68904873 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.858+1G>T single nucleotide variant Leber congenital amaurosis 2 [RCV001270786]|not provided [RCV000085224] Chr1:68439190 [GRCh38]
Chr1:68904873 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.858+4A>G single nucleotide variant not provided [RCV000085225] Chr1:68439187 [GRCh38]
Chr1:68904870 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.859G>T (p.Val287Phe) single nucleotide variant Leber congenital amaurosis 2 [RCV002226457]|not provided [RCV000085226] Chr1:68439081 [GRCh38]
Chr1:68904764 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.2(RPE65):c.889delA (p.Lys298Serfs) deletion not provided [RCV000085228] Chr1:68439051 [GRCh38]
Chr1:68904734 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.894del (p.Lys298fs) deletion not provided [RCV000085229] Chr1:68439046 [GRCh38]
Chr1:68904729 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.95-2A>T single nucleotide variant Leber congenital amaurosis 2 [RCV000668398]|Leber congenital amaurosis 2 [RCV001250674]|Leber congenital amaurosis 2 [RCV002498451]|Leber congenital amaurosis [RCV001003189]|Retinal dystrophy [RCV001074560]|not provided [RCV000085232] Chr1:68446862 [GRCh38]
Chr1:68912545 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) single nucleotide variant Leber congenital amaurosis 2 [RCV001089895]|Leber congenital amaurosis 2 [RCV001854499]|not provided [RCV000085233] Chr1:68438988 [GRCh38]
Chr1:68904671 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.95G>T (p.Gly32Val) single nucleotide variant not provided [RCV000085234] Chr1:68446860 [GRCh38]
Chr1:68912543 [GRCh37]
Chr1:1p31.3
not provided
NM_000329.3(RPE65):c.962dup (p.Asn321fs) duplication Leber congenital amaurosis 2 [RCV001233846]|Retinal dystrophy [RCV001074533]|not provided [RCV000085235] Chr1:68438977..68438978 [GRCh38]
Chr1:68904660..68904661 [GRCh37]
Chr1:1p31.3
pathogenic|not provided
NM_000329.3(RPE65):c.978G>T (p.Val326=) single nucleotide variant Leber congenital amaurosis 2 [RCV000671895]|Leber congenital amaurosis 2 [RCV001100476]|Retinitis pigmentosa [RCV001100477]|not provided [RCV000085236]|not specified [RCV000261103] Chr1:68438962 [GRCh38]
Chr1:68904645 [GRCh37]
Chr1:1p31.3
benign|likely benign|uncertain significance|not provided
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) single nucleotide variant Leber congenital amaurosis 2 [RCV000808234]|Leber congenital amaurosis 2 [RCV001250691]|not provided [RCV000085237] Chr1:68438951 [GRCh38]
Chr1:68904634 [GRCh37]
Chr1:1p31.3
likely pathogenic|not provided
NM_000329.3(RPE65):c.1366del (p.Glu456fs) deletion Autosomal recessive retinitis pigmentosa [RCV001257817]|not provided [RCV000171153] Chr1:68431149 [GRCh38]
Chr1:68896832 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) single nucleotide variant Leber congenital amaurosis 2 [RCV000950898]|not specified [RCV000179752] Chr1:68439611 [GRCh38]
Chr1:68905294 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_000329.3(RPE65):c.227A>G (p.His76Arg) single nucleotide variant Leber congenital amaurosis 2 [RCV001348498] Chr1:68446728 [GRCh38]
Chr1:68912411 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 copy number loss See cases [RCV000133710] Chr1:59760856..71578052 [GRCh38]
Chr1:60226528..72043735 [GRCh37]
Chr1:59999116..71816323 [NCBI36]
Chr1:1p32.1-31.1
pathogenic
GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 copy number loss See cases [RCV000134142] Chr1:58819605..69107108 [GRCh38]
Chr1:59285277..69572791 [GRCh37]
Chr1:59057865..69345379 [NCBI36]
Chr1:1p32.1-31.2
pathogenic
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3
pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 copy number gain See cases [RCV000142452] Chr1:64072618..75518432 [GRCh38]
Chr1:64538290..75984117 [GRCh37]
Chr1:64310878..75756705 [NCBI36]
Chr1:1p31.3-31.1
pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1 copy number loss See cases [RCV000143129] Chr1:66865125..77123381 [GRCh38]
Chr1:67330808..77589066 [GRCh37]
Chr1:67103396..77361654 [NCBI36]
Chr1:1p31.3-31.1
pathogenic
NM_000329.3(RPE65):c.80C>T (p.Thr27Ile) single nucleotide variant not provided [RCV000175585] Chr1:68448638 [GRCh38]
Chr1:68914321 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.168A>G (p.Pro56=) single nucleotide variant Leber congenital amaurosis 2 [RCV001088492]|not provided [RCV000177043] Chr1:68446787 [GRCh38]
Chr1:68912470 [GRCh37]
Chr1:1p31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000329.3(RPE65):c.*588C>A single nucleotide variant Leber congenital amaurosis 2 [RCV000357071]|Retinitis pigmentosa [RCV000262286] Chr1:68429188 [GRCh38]
Chr1:68894871 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1243+10T>C single nucleotide variant Leber congenital amaurosis 2 [RCV000923552]|Leber congenital amaurosis [RCV000352172]|Retinitis Pigmentosa, Recessive [RCV000287911]|Retinitis pigmentosa 20 [RCV001196851] Chr1:68431461 [GRCh38]
Chr1:68897144 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) single nucleotide variant Leber congenital amaurosis 2 [RCV000354218]|Leber congenital amaurosis 2 [RCV001229718]|Leber congenital amaurosis [RCV001833426]|Retinitis pigmentosa [RCV000259446] Chr1:68438965 [GRCh38]
Chr1:68904648 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.267C>T (p.Tyr89=) single nucleotide variant Leber congenital amaurosis 2 [RCV000384862]|Leber congenital amaurosis 2 [RCV001419413]|Retinitis pigmentosa [RCV000271691]|not provided [RCV000930790] Chr1:68444862 [GRCh38]
Chr1:68910545 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.361dup (p.Ser121fs) duplication Leber congenital amaurosis 2 [RCV001387317]|Leber congenital amaurosis [RCV000754975] Chr1:68444664..68444665 [GRCh38]
Chr1:68910347..68910348 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) single nucleotide variant Leber congenital amaurosis 2 [RCV001244442]|Leber congenital amaurosis [RCV000754973] Chr1:68439568 [GRCh38]
Chr1:68905251 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV000672055]|not provided [RCV001549804] Chr1:68439294 [GRCh38]
Chr1:68904977 [GRCh37]
Chr1:1p31.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_000329.3(RPE65):c.726-2A>C single nucleotide variant Retinal dystrophy [RCV000225374] Chr1:68439325 [GRCh38]
Chr1:68905008 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) single nucleotide variant Leber congenital amaurosis 2 [RCV000326761]|Leber congenital amaurosis 2 [RCV002494926]|Retinitis pigmentosa [RCV000381272] Chr1:68446731 [GRCh38]
Chr1:68912414 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) single nucleotide variant Leber congenital amaurosis 2 [RCV000672144] Chr1:68438958 [GRCh38]
Chr1:68904641 [GRCh37]
Chr1:1p31.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) single nucleotide variant Leber congenital amaurosis 2 [RCV000312204]|Leber congenital amaurosis 2 [RCV000940201]|Retinitis pigmentosa [RCV000403263] Chr1:68431520 [GRCh38]
Chr1:68897203 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.643+22C>T single nucleotide variant Leber congenital amaurosis 2 [RCV001533579]|Retinitis pigmentosa 87 with choroidal involvement [RCV001533580]|not provided [RCV001682971]|not specified [RCV000246509] Chr1:68440831 [GRCh38]
Chr1:68906514 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.644-33C>G single nucleotide variant Leber congenital amaurosis 2 [RCV001533577]|Retinitis pigmentosa 20 [RCV001795394]|Retinitis pigmentosa 87 with choroidal involvement [RCV001533578]|not provided [RCV001610572]|not specified [RCV000251467] Chr1:68439675 [GRCh38]
Chr1:68905358 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.*611G>A single nucleotide variant Leber congenital amaurosis 2 [RCV000275298]|Retinitis pigmentosa [RCV000311621] Chr1:68429165 [GRCh38]
Chr1:68894848 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_000329.3(RPE65):c.*517G>A single nucleotide variant Leber congenital amaurosis 2 [RCV000321860]|Retinitis pigmentosa [RCV000266802] Chr1:68429259 [GRCh38]
Chr1:68894942 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.*735del deletion Leber congenital amaurosis [RCV000314714]|Retinitis Pigmentosa, Recessive [RCV000369426] Chr1:68429041 [GRCh38]
Chr1:68894724 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.*531A>G single nucleotide variant Leber congenital amaurosis 2 [RCV000317359]|Retinitis pigmentosa [RCV000372031] Chr1:68429245 [GRCh38]
Chr1:68894928 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_000329.3(RPE65):c.*511G>A single nucleotide variant Leber congenital amaurosis 2 [RCV000376597]|Retinitis pigmentosa [RCV000291518] Chr1:68429265 [GRCh38]
Chr1:68894948 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.*915C>G single nucleotide variant Leber congenital amaurosis 2 [RCV000396769]|Retinitis pigmentosa [RCV000308734] Chr1:68428861 [GRCh38]
Chr1:68894544 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_000329.3(RPE65):c.149_150del (p.Leu49_Phe50insTer) deletion not provided [RCV000368059] Chr1:68446805..68446806 [GRCh38]
Chr1:68912488..68912489 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.331C>T (p.Pro111Ser) single nucleotide variant not provided [RCV000288725] Chr1:68444798 [GRCh38]
Chr1:68910481 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) single nucleotide variant Leber congenital amaurosis 2 [RCV000321010]|Retinitis pigmentosa [RCV000265981] Chr1:68439603 [GRCh38]
Chr1:68905286 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1243+29G>A single nucleotide variant not provided [RCV001571731] Chr1:68431442 [GRCh38]
Chr1:68897125 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.*760A>C single nucleotide variant Leber congenital amaurosis 2 [RCV000345044]|Retinitis pigmentosa [RCV000396921] Chr1:68429016 [GRCh38]
Chr1:68894699 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1386G>A (p.Glu462=) single nucleotide variant Leber congenital amaurosis 2 [RCV000346182]|Retinitis pigmentosa [RCV000382165] Chr1:68431129 [GRCh38]
Chr1:68896812 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) single nucleotide variant Leber congenital amaurosis 2 [RCV000549727]|Leber congenital amaurosis 2 [RCV001096916]|Leber congenital amaurosis [RCV001273330]|Retinitis pigmentosa [RCV001096915] Chr1:68431318 [GRCh38]
Chr1:68897001 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV000553292]|Leber congenital amaurosis 2 [RCV002287424] Chr1:68446740 [GRCh38]
Chr1:68912423 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.893del (p.Lys298fs) deletion Leber congenital amaurosis 2 [RCV001225799]|Leber congenital amaurosis [RCV001275330]|Retinal dystrophy [RCV001074534]|not provided [RCV000414568] Chr1:68439047 [GRCh38]
Chr1:68904730 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1338+1G>A single nucleotide variant Congenital blindness [RCV000415360]|Leber congenital amaurosis 2 [RCV001066256]|Retinitis pigmentosa 20 [RCV001198362]|not provided [RCV001782895] Chr1:68431281 [GRCh38]
Chr1:68896964 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV000528380]|Leber congenital amaurosis [RCV001275339]|RPE65-Related Disorders [RCV001249416]|RPE65-related recessive retinopathy [RCV002466496]|Retinitis pigmentosa [RCV000787883]|not provided [RCV000416243] Chr1:68446825 [GRCh38]
Chr1:68912508 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|not provided
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) duplication Leber congenital amaurosis 2 [RCV000812394]|Leber congenital amaurosis 2 [RCV001250698]|Leber congenital amaurosis [RCV001830624]|Retinal dystrophy [RCV001074144]|not provided [RCV000732582] Chr1:68438247..68438248 [GRCh38]
Chr1:68903930..68903931 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic
NM_000329.3(RPE65):c.1496C>T (p.Pro499Leu) single nucleotide variant not provided [RCV000732591] Chr1:68429882 [GRCh38]
Chr1:68895565 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV000678615]|Leber congenital amaurosis 2 [RCV001868293] Chr1:68431116 [GRCh38]
Chr1:68896799 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) single nucleotide variant Leber congenital amaurosis 2 [RCV001250673]|Leber congenital amaurosis 2 [RCV001377674]|Leber congenital amaurosis 2 [RCV002496962]|Leber congenital amaurosis [RCV001834621]|Retinal dystrophy [RCV000504723]|Retinitis pigmentosa [RCV001724032] Chr1:68448644 [GRCh38]
Chr1:68914327 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val) single nucleotide variant not provided [RCV000483168] Chr1:68431376 [GRCh38]
Chr1:68897059 [GRCh37]
Chr1:1p31.3
likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3
pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) single nucleotide variant Leber congenital amaurosis 2 [RCV001865522]|Leber congenital amaurosis 2 [RCV002248718]|Leber congenital amaurosis [RCV000515747] Chr1:68438214 [GRCh38]
Chr1:68903897 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV001245608]|Leber congenital amaurosis [RCV000515733] Chr1:68431282 [GRCh38]
Chr1:68896965 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic
NM_000329.3(RPE65):c.793C>T (p.Leu265Phe) single nucleotide variant not provided [RCV000594684] Chr1:68439256 [GRCh38]
Chr1:68904939 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) single nucleotide variant Leber congenital amaurosis 2 [RCV000626100] Chr1:68440940 [GRCh38]
Chr1:68906623 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro) single nucleotide variant Cone-rod dystrophy [RCV000678616] Chr1:68444593 [GRCh38]
Chr1:68910276 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3 copy number gain not provided [RCV000684577] Chr1:62434799..71656180 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
NM_000329.3(RPE65):c.10del (p.Gln4fs) deletion Leber congenital amaurosis 2 [RCV000689657] Chr1:68449896 [GRCh38]
Chr1:68915579 [GRCh37]
Chr1:1p31.3
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_000329.3(RPE65):c.722A>G (p.His241Arg) single nucleotide variant Congenital isolated adrenocorticotropic hormone deficiency [RCV000754597] Chr1:68439564 [GRCh38]
Chr1:68905247 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.110G>C (p.Trp37Ser) single nucleotide variant Congenital isolated adrenocorticotropic hormone deficiency [RCV000754596] Chr1:68446845 [GRCh38]
Chr1:68912528 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.203A>C (p.His68Pro) single nucleotide variant Congenital isolated adrenocorticotropic hormone deficiency [RCV000754598] Chr1:68446752 [GRCh38]
Chr1:68912435 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) single nucleotide variant Congenital isolated adrenocorticotropic hormone deficiency [RCV000754599]|Leber congenital amaurosis 2 [RCV001382566]|Retinitis pigmentosa [RCV001731903] Chr1:68439224 [GRCh38]
Chr1:68904907 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.332C>A (p.Pro111His) single nucleotide variant Leber congenital amaurosis 2 [RCV001591852] Chr1:68444797 [GRCh38]
Chr1:68910480 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1443del (p.Asp482fs) deletion Retinitis pigmentosa 20 [RCV001591853] Chr1:68431072 [GRCh38]
Chr1:68896755 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu) single nucleotide variant Leber congenital amaurosis 2 [RCV001591854] Chr1:68446812 [GRCh38]
Chr1:68912495 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.693C>A (p.Cys231Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV001591855] Chr1:68439593 [GRCh38]
Chr1:68905276 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.237C>T (p.Tyr79=) single nucleotide variant Leber congenital amaurosis 2 [RCV000897342] Chr1:68446718 [GRCh38]
Chr1:68912401 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.1451-2A>C single nucleotide variant Leber congenital amaurosis 2 [RCV000761520] Chr1:68429929 [GRCh38]
Chr1:68895612 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg) single nucleotide variant Leber congenital amaurosis 2 [RCV001044093]|Leber congenital amaurosis [RCV001832419] Chr1:68429845 [GRCh38]
Chr1:68895528 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp) single nucleotide variant Leber congenital amaurosis 2 [RCV001044603]|Leber congenital amaurosis 2 [RCV001100474]|Retinitis pigmentosa [RCV001100475] Chr1:68438245 [GRCh38]
Chr1:68903928 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001053470]|Leber congenital amaurosis 2 [RCV001098872]|Leber congenital amaurosis [RCV000754977]|Retinitis pigmentosa [RCV001098873]|not provided [RCV001756143] Chr1:68446713 [GRCh38]
Chr1:68912396 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn) single nucleotide variant Cone-rod dystrophy 15 [RCV001578816]|Leber congenital amaurosis 2 [RCV001866086] Chr1:68444564 [GRCh38]
Chr1:68910247 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.922_924del (p.Pro308del) deletion Retinitis pigmentosa [RCV001724815] Chr1:68439016..68439018 [GRCh38]
Chr1:68904699..68904701 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) single nucleotide variant Leber congenital amaurosis 2 [RCV000986326] Chr1:68429795 [GRCh38]
Chr1:68895478 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.95-10T>A single nucleotide variant Leber congenital amaurosis 2 [RCV000926497]|Leber congenital amaurosis 2 [RCV001100687]|Retinitis pigmentosa [RCV001100688]|not provided [RCV001729747] Chr1:68446870 [GRCh38]
Chr1:68912553 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.675C>A (p.Ile225=) single nucleotide variant not provided [RCV000920758] Chr1:68439611 [GRCh38]
Chr1:68905294 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.564C>T (p.Thr188=) single nucleotide variant Leber congenital amaurosis 2 [RCV001078626]|not provided [RCV000899242] Chr1:68440932 [GRCh38]
Chr1:68906615 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.954T>C (p.Tyr318=) single nucleotide variant Leber congenital amaurosis 2 [RCV001456048]|not provided [RCV000928554] Chr1:68438986 [GRCh38]
Chr1:68904669 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.420G>A (p.Gly140=) single nucleotide variant Leber congenital amaurosis 2 [RCV001417124]|not provided [RCV000928668] Chr1:68444606 [GRCh38]
Chr1:68910289 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.886A>C (p.Arg296=) single nucleotide variant Leber congenital amaurosis 2 [RCV000914685]|Leber congenital amaurosis [RCV001832063] Chr1:68439054 [GRCh38]
Chr1:68904737 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.75G>A (p.Pro25=) single nucleotide variant Leber congenital amaurosis 2 [RCV000879241]|Leber congenital amaurosis [RCV001275341] Chr1:68448643 [GRCh38]
Chr1:68914326 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.1098G>A (p.Arg366=) single nucleotide variant Leber congenital amaurosis 2 [RCV000928876] Chr1:68438217 [GRCh38]
Chr1:68903900 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) single nucleotide variant Leber congenital amaurosis 2 [RCV001068036]|Neurodevelopmental disorder [RCV002279647]|RPE65-Related Disorders [RCV001034696]|Retinal dystrophy [RCV001074701]|Retinitis pigmentosa 20 [RCV001376263]|Retinitis pigmentosa 87 with choroidal involvement [RCV000927801] Chr1:68431085 [GRCh38]
Chr1:68896768 [GRCh37]
Chr1:1p31.3
pathogenic|uncertain significance
NM_000329.3(RPE65):c.102C>A (p.Ile34=) single nucleotide variant Leber congenital amaurosis 2 [RCV001084737]|Leber congenital amaurosis 2 [RCV001100685]|Retinitis pigmentosa [RCV001100686]|not provided [RCV000949153] Chr1:68446853 [GRCh38]
Chr1:68912536 [GRCh37]
Chr1:1p31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV000972144]|Leber congenital amaurosis 2 [RCV001097119]|Leber congenital amaurosis [RCV001275335]|Retinitis pigmentosa [RCV001097120] Chr1:68444834 [GRCh38]
Chr1:68910517 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.624G>A (p.Lys208=) single nucleotide variant Leber congenital amaurosis 2 [RCV000964774] Chr1:68440872 [GRCh38]
Chr1:68906555 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) single nucleotide variant Leber congenital amaurosis 2 [RCV000884725]|Leber congenital amaurosis 2 [RCV001098673]|Retinitis pigmentosa [RCV001098674] Chr1:68431560 [GRCh38]
Chr1:68897243 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.783G>T (p.Leu261=) single nucleotide variant Leber congenital amaurosis 2 [RCV000922726]|Leber congenital amaurosis 2 [RCV001098760]|Leber congenital amaurosis [RCV001275284]|Retinitis pigmentosa [RCV001098759] Chr1:68439266 [GRCh38]
Chr1:68904949 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu) single nucleotide variant Leber congenital amaurosis 2 [RCV001054822]|Leber congenital amaurosis 2 [RCV001250697]|Leber congenital amaurosis [RCV001827346] Chr1:68431319 [GRCh38]
Chr1:68897002 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001055979] Chr1:68431545 [GRCh38]
Chr1:68897228 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.751G>A (p.Val251Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001065289]|Leber congenital amaurosis [RCV001827422] Chr1:68439298 [GRCh38]
Chr1:68904981 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1322A>G (p.His441Arg) single nucleotide variant Leber congenital amaurosis 2 [RCV001053365] Chr1:68431298 [GRCh38]
Chr1:68896981 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV001042626] Chr1:68438217 [GRCh38]
Chr1:68903900 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.113T>G (p.Leu38Arg) single nucleotide variant Retinal dystrophy [RCV001073366] Chr1:68446842 [GRCh38]
Chr1:68912525 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001089888]|Retinal dystrophy [RCV001073555] Chr1:68444827 [GRCh38]
Chr1:68910510 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.1309C>T (p.Leu437Phe) single nucleotide variant Retinal dystrophy [RCV001074419] Chr1:68431311 [GRCh38]
Chr1:68896994 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV001048980]|Leber congenital amaurosis [RCV001273294] Chr1:68429859 [GRCh38]
Chr1:68895542 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly) single nucleotide variant Leber congenital amaurosis 2 [RCV001054425]|not provided [RCV001559438] Chr1:68431070 [GRCh38]
Chr1:68896753 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
Single allele deletion Intellectual disability, severe [RCV000824954] Chr1:59922631..72058653 [GRCh37]
Chr1:1p32.1-31.1
pathogenic
NM_000329.3(RPE65):c.1435T>C (p.Leu479=) single nucleotide variant Leber congenital amaurosis 2 [RCV000905614] Chr1:68431080 [GRCh38]
Chr1:68896763 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.375A>G (p.Gly125=) single nucleotide variant Leber congenital amaurosis 2 [RCV000933065]|Leber congenital amaurosis 2 [RCV001097116]|Leber congenital amaurosis [RCV001275287]|Retinitis pigmentosa [RCV001097115] Chr1:68444651 [GRCh38]
Chr1:68910334 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.1395A>G (p.Ser465=) single nucleotide variant Leber congenital amaurosis 2 [RCV000979130] Chr1:68431120 [GRCh38]
Chr1:68896803 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.1491A>G (p.Gln497=) single nucleotide variant Leber congenital amaurosis 2 [RCV000981611] Chr1:68429887 [GRCh38]
Chr1:68895570 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.859-4C>G single nucleotide variant not provided [RCV000976594] Chr1:68439085 [GRCh38]
Chr1:68904768 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.621A>G (p.Val207=) single nucleotide variant Leber congenital amaurosis 2 [RCV000954002] Chr1:68440875 [GRCh38]
Chr1:68906558 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.585C>T (p.Cys195=) single nucleotide variant Leber congenital amaurosis 2 [RCV000946377]|Leber congenital amaurosis [RCV001832192] Chr1:68440911 [GRCh38]
Chr1:68906594 [GRCh37]
Chr1:1p31.3
benign|likely benign
NM_000329.3(RPE65):c.675C>T (p.Ile225=) single nucleotide variant Leber congenital amaurosis 2 [RCV001412259]|not provided [RCV000928910] Chr1:68439611 [GRCh38]
Chr1:68905294 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) duplication Leber congenital amaurosis 2 [RCV000815733] Chr1:68438946..68438947 [GRCh38]
Chr1:68904629..68904630 [GRCh37]
Chr1:1p31.3
likely pathogenic
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1 copy number loss not provided [RCV000846441] Chr1:67851233..86101340 [GRCh37]
Chr1:1p31.3-22.3
pathogenic
GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1 copy number loss not provided [RCV000847457] Chr1:66868168..77106425 [GRCh37]
Chr1:1p31.3-31.1
pathogenic
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) single nucleotide variant Retinitis pigmentosa [RCV000787882] Chr1:68444800 [GRCh38]
Chr1:68910483 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_000329.3(RPE65):c.*560C>T single nucleotide variant Leber congenital amaurosis 2 [RCV001096817]|Retinitis pigmentosa [RCV001096816] Chr1:68429216 [GRCh38]
Chr1:68894899 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1238G>A (p.Arg413His) single nucleotide variant Cone-rod dystrophy 15 [RCV001578815]|Leber congenital amaurosis 2 [RCV001096919]|Retinitis pigmentosa [RCV001096920] Chr1:68431476 [GRCh38]
Chr1:68897159 [GRCh37]
Chr1:1p31.3
uncertain significance
NC_000001.11:g.(?_68438187)_(68484090_?)del deletion Leber congenital amaurosis 2 [RCV001031185] Chr1:68903870..68949773 [GRCh37]
Chr1:1p31.2
pathogenic
NM_000329.3(RPE65):c.395C>T (p.Ala132Val) single nucleotide variant Leber congenital amaurosis 2 [RCV001097114]|Retinitis pigmentosa [RCV001097113] Chr1:68444631 [GRCh38]
Chr1:68910314 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.*546A>C single nucleotide variant Leber congenital amaurosis 2 [RCV001098577]|Retinitis pigmentosa [RCV001098578] Chr1:68429230 [GRCh38]
Chr1:68894913 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.807T>C (p.Ser269=) single nucleotide variant Leber congenital amaurosis 2 [RCV001098758]|Leber congenital amaurosis 2 [RCV001405985]|Retinitis pigmentosa [RCV001098757] Chr1:68439242 [GRCh38]
Chr1:68904925 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys) single nucleotide variant Leber congenital amaurosis 2 [RCV000802261]|Leber congenital amaurosis [RCV001273332] Chr1:68431477 [GRCh38]
Chr1:68897160 [GRCh37]
Chr1:1p31.3
uncertain significance
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2
not provided
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV000817537]|Leber congenital amaurosis 2 [RCV001089892]|Leber congenital amaurosis [RCV001830793]|Retinal dystrophy [RCV001075233]|not provided [RCV001593012] Chr1:68431509 [GRCh38]
Chr1:68897192 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys) single nucleotide variant Leber congenital amaurosis 2 [RCV001098870]|Leber congenital amaurosis 2 [RCV002480467]|Retinitis pigmentosa [RCV001098871] Chr1:68444876 [GRCh38]
Chr1:68910559 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV001097018]|Leber congenital amaurosis 2 [RCV001245178]|Leber congenital amaurosis [RCV001828548]|Retinitis pigmentosa 87 with choroidal involvement [RCV002290601]|Retinitis pigmentosa [RCV001097017] Chr1:68439038 [GRCh38]
Chr1:68904721 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.718G>A (p.Val240Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001098762]|Retinitis pigmentosa [RCV001098761] Chr1:68439568 [GRCh38]
Chr1:68905251 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.547A>G (p.Ile183Val) single nucleotide variant Leber congenital amaurosis 2 [RCV001593170]|Retinitis pigmentosa 20 [RCV001585900]|not provided [RCV000994023] Chr1:68440949 [GRCh38]
Chr1:68906632 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.676G>A (p.Val226Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001248290]|Leber congenital amaurosis [RCV001830037] Chr1:68439610 [GRCh38]
Chr1:68905293 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val) single nucleotide variant Leber congenital amaurosis 2 [RCV000986329] Chr1:68438311 [GRCh38]
Chr1:68903994 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) single nucleotide variant Leber congenital amaurosis 2 [RCV000986330]|Leber congenital amaurosis 2 [RCV001219364]|RPE65-Related Disorders [RCV002255100]|not provided [RCV001585895] Chr1:68440936 [GRCh38]
Chr1:68906619 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.917C>T (p.Thr306Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001212438] Chr1:68439023 [GRCh38]
Chr1:68904706 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.1409C>A (p.Pro470His) single nucleotide variant Leber congenital amaurosis 2 [RCV001227306] Chr1:68431106 [GRCh38]
Chr1:68896789 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV001234482]|Leber congenital amaurosis [RCV001828865] Chr1:68439306 [GRCh38]
Chr1:68904989 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys) single nucleotide variant Leber congenital amaurosis 2 [RCV001223252]|Leber congenital amaurosis [RCV001828780]|not provided [RCV001773503] Chr1:68438987 [GRCh38]
Chr1:68904670 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.7A>G (p.Ile3Val) single nucleotide variant Leber congenital amaurosis 2 [RCV001239510]|Leber congenital amaurosis [RCV001834093] Chr1:68449899 [GRCh38]
Chr1:68915582 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys) single nucleotide variant Leber congenital amaurosis 2 [RCV001206748]|Leber congenital amaurosis [RCV001833815] Chr1:68439303 [GRCh38]
Chr1:68904986 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys) single nucleotide variant Leber congenital amaurosis 2 [RCV001243184]|Leber congenital amaurosis [RCV001829017] Chr1:68431519 [GRCh38]
Chr1:68897202 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.643+2T>A single nucleotide variant Leber congenital amaurosis 2 [RCV001210075] Chr1:68440851 [GRCh38]
Chr1:68906534 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.536C>T (p.Ala179Val) single nucleotide variant Leber congenital amaurosis 2 [RCV001238369] Chr1:68440960 [GRCh38]
Chr1:68906643 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1449T>C (p.Asp483=) single nucleotide variant Leber congenital amaurosis 2 [RCV001240668]|Leber congenital amaurosis [RCV001836206] Chr1:68431066 [GRCh38]
Chr1:68896749 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.308T>C (p.Phe103Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV001246228] Chr1:68444821 [GRCh38]
Chr1:68910504 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.843_858+7del deletion Leber congenital amaurosis 2 [RCV001250688] Chr1:68439184..68439206 [GRCh38]
Chr1:68904867..68904889 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1596dup (p.Ser533fs) duplication Leber congenital amaurosis 2 [RCV001250710] Chr1:68429781..68429782 [GRCh38]
Chr1:68895464..68895465 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys) single nucleotide variant Leber congenital amaurosis 2 [RCV001247781]|Leber congenital amaurosis [RCV001278135] Chr1:68439305 [GRCh38]
Chr1:68904988 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn) single nucleotide variant Leber congenital amaurosis 2 [RCV001235816]|Leber congenital amaurosis 2 [RCV001250684]|Retinitis pigmentosa [RCV001249891] Chr1:68444815 [GRCh38]
Chr1:68910498 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) single nucleotide variant Leber congenital amaurosis [RCV001199757] Chr1:68429927 [GRCh38]
Chr1:68895610 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu) single nucleotide variant Leber congenital amaurosis 2 [RCV001250690] Chr1:68439017 [GRCh38]
Chr1:68904700 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.407T>G (p.Val136Gly) single nucleotide variant Leber congenital amaurosis 2 [RCV001250696] Chr1:68444619 [GRCh38]
Chr1:68910302 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.1209_1210insCTGG (p.Glu404fs) insertion Leber congenital amaurosis 2 [RCV001250701] Chr1:68431504..68431505 [GRCh38]
Chr1:68897187..68897188 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1339-4A>G single nucleotide variant Leber congenital amaurosis 2 [RCV001204530]|Leber congenital amaurosis [RCV001828640] Chr1:68431180 [GRCh38]
Chr1:68896863 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) single nucleotide variant Leber congenital amaurosis 2 [RCV000986327]|Leber congenital amaurosis 2 [RCV001858636] Chr1:68431471 [GRCh38]
Chr1:68897154 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.366C>T (p.Tyr122=) single nucleotide variant Leber congenital amaurosis 2 [RCV001097117]|Leber congenital amaurosis 2 [RCV001444955]|Retinitis pigmentosa [RCV001097118] Chr1:68444660 [GRCh38]
Chr1:68910343 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001250689] Chr1:68439026 [GRCh38]
Chr1:68904709 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.993G>A (p.Trp331Ter) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257822]|Leber congenital amaurosis 2 [RCV001250692] Chr1:68438947 [GRCh38]
Chr1:68904630 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.706A>T (p.Lys236Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV001250699]|Leber congenital amaurosis 2 [RCV001390652] Chr1:68439580 [GRCh38]
Chr1:68905263 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.770T>G (p.Val257Gly) single nucleotide variant Leber congenital amaurosis 2 [RCV001250709] Chr1:68439279 [GRCh38]
Chr1:68904962 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.2:c.1_1602del deletion Leber congenital amaurosis 2 [RCV001250711] Chr1:1p31.3 pathogenic
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr) single nucleotide variant Leber congenital amaurosis 2 [RCV001247069]|Leber congenital amaurosis [RCV001830003] Chr1:68439066 [GRCh38]
Chr1:68904749 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.726-2A>T single nucleotide variant Leber congenital amaurosis 2 [RCV001224577]|Leber congenital amaurosis 2 [RCV001250705] Chr1:68439325 [GRCh38]
Chr1:68905008 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic
NM_000329.3(RPE65):c.246-46G>A single nucleotide variant Leber congenital amaurosis [RCV001826386]|not provided [RCV001537486] Chr1:68444929 [GRCh38]
Chr1:68910612 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.1306G>A (p.Gly436Arg) single nucleotide variant not provided [RCV001576822] Chr1:68431314 [GRCh38]
Chr1:68896997 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.998+270C>A single nucleotide variant not provided [RCV001648780] Chr1:68438672 [GRCh38]
Chr1:68904355 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.1590C>A (p.Phe530Leu) single nucleotide variant Leber congenital amaurosis 2 [RCV001963988] Chr1:68429788 [GRCh38]
Chr1:68895471 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.117C>T (p.Thr39=) single nucleotide variant Leber congenital amaurosis 2 [RCV000949459]|Leber congenital amaurosis [RCV001275289] Chr1:68446838 [GRCh38]
Chr1:68912521 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.942C>T (p.His314=) single nucleotide variant Leber congenital amaurosis 2 [RCV000952170]|Leber congenital amaurosis 2 [RCV001102429]|Leber congenital amaurosis [RCV001836036]|Retinitis pigmentosa [RCV001102428] Chr1:68438998 [GRCh38]
Chr1:68904681 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.1244-5C>T single nucleotide variant Leber congenital amaurosis 2 [RCV000952401]|Leber congenital amaurosis [RCV001273296] Chr1:68431381 [GRCh38]
Chr1:68897064 [GRCh37]
Chr1:1p31.3
benign|uncertain significance
NM_000329.3(RPE65):c.777T>C (p.Ile259=) single nucleotide variant Leber congenital amaurosis 2 [RCV000978614] Chr1:68439272 [GRCh38]
Chr1:68904955 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.496-4G>A single nucleotide variant Leber congenital amaurosis 2 [RCV000945902]|Leber congenital amaurosis [RCV001275285] Chr1:68441004 [GRCh38]
Chr1:68906687 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.1152C>G (p.Val384=) single nucleotide variant Leber congenital amaurosis 2 [RCV000970584]|Leber congenital amaurosis [RCV001273297] Chr1:68431562 [GRCh38]
Chr1:68897245 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.1431T>C (p.Asp477=) single nucleotide variant Leber congenital amaurosis 2 [RCV001417901]|Leber congenital amaurosis [RCV001273295]|not provided [RCV000952012] Chr1:68431084 [GRCh38]
Chr1:68896767 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln) single nucleotide variant Leber congenital amaurosis 2 [RCV001100588]|Retinitis pigmentosa [RCV001100589] Chr1:68439585 [GRCh38]
Chr1:68905268 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.565G>A (p.Val189Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001100592]|Retinitis pigmentosa 20 [RCV001585980]|Retinitis pigmentosa [RCV001100593] Chr1:68440931 [GRCh38]
Chr1:68906614 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu) deletion Leber congenital amaurosis 2 [RCV001250678] Chr1:68446764..68446769 [GRCh38]
Chr1:68912447..68912452 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg) single nucleotide variant Leber congenital amaurosis 2 [RCV001250679] Chr1:68446768 [GRCh38]
Chr1:68912451 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp) single nucleotide variant Leber congenital amaurosis 2 [RCV001250686] Chr1:68440925 [GRCh38]
Chr1:68906608 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV001245109]|Leber congenital amaurosis [RCV001835227] Chr1:68438281 [GRCh38]
Chr1:68903964 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.*680G>A single nucleotide variant Leber congenital amaurosis 2 [RCV001102220]|Retinitis pigmentosa [RCV001102219] Chr1:68429096 [GRCh38]
Chr1:68894779 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.11+2T>G single nucleotide variant Leber congenital amaurosis 2 [RCV001230466]|Leber congenital amaurosis [RCV001833994] Chr1:68449893 [GRCh38]
Chr1:68915576 [GRCh37]
Chr1:1p31.3
likely pathogenic
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe) single nucleotide variant Leber congenital amaurosis 2 [RCV001239945]|Leber congenital amaurosis [RCV001834109] Chr1:68446849 [GRCh38]
Chr1:68912532 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.421G>T (p.Glu141Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV001245546] Chr1:68444605 [GRCh38]
Chr1:68910288 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs) insertion Leber congenital amaurosis 2 [RCV001051752] Chr1:68446807..68446808 [GRCh38]
Chr1:68912490..68912491 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1582G>A (p.Gly528Arg) single nucleotide variant Leber congenital amaurosis 2 [RCV001211697] Chr1:68429796 [GRCh38]
Chr1:68895479 [GRCh37]
Chr1:1p31.3
uncertain significance
GRCh37/hg19 1p31.3-31.2(chr1:68362723-69625048)x1 copy number loss not provided [RCV001005103] Chr1:68362723..69625048 [GRCh37]
Chr1:1p31.3-31.2
uncertain significance
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) single nucleotide variant Leber congenital amaurosis 2 [RCV001243775]|Leber congenital amaurosis [RCV001829042]|not provided [RCV001773551] Chr1:68446831 [GRCh38]
Chr1:68912514 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.829_833del (p.Asp277fs) deletion Leber congenital amaurosis 2 [RCV001227820] Chr1:68439216..68439220 [GRCh38]
Chr1:68904899..68904903 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) single nucleotide variant Leber congenital amaurosis 2 [RCV001244171]|Leber congenital amaurosis [RCV001836228]|not provided [RCV001701309] Chr1:68444593 [GRCh38]
Chr1:68910276 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.1338+8A>G single nucleotide variant Leber congenital amaurosis 2 [RCV000912094]|Leber congenital amaurosis 2 [RCV001102319]|Retinitis pigmentosa [RCV001102320] Chr1:68431274 [GRCh38]
Chr1:68896957 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.441A>G (p.Thr147=) single nucleotide variant Leber congenital amaurosis 2 [RCV000889235]|Leber congenital amaurosis 2 [RCV001102522]|Leber congenital amaurosis [RCV001275286]|Retinitis pigmentosa [RCV001102521] Chr1:68444585 [GRCh38]
Chr1:68910268 [GRCh37]
Chr1:1p31.3
benign|likely benign|uncertain significance
NM_000329.3(RPE65):c.998+112T>C single nucleotide variant not provided [RCV001677748] Chr1:68438830 [GRCh38]
Chr1:68904513 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.1128+2585A>C single nucleotide variant not provided [RCV001676249] Chr1:68435602 [GRCh38]
Chr1:68901285 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) single nucleotide variant Leber congenital amaurosis 2 [RCV001208105]|Leber congenital amaurosis [RCV001836068]|Retinal dystrophy [RCV001073324]|Retinitis pigmentosa 20 [RCV001029769] Chr1:68440879 [GRCh38]
Chr1:68906562 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.1339-39T>C single nucleotide variant not provided [RCV001659235] Chr1:68431215 [GRCh38]
Chr1:68896898 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.1450+104C>T single nucleotide variant not provided [RCV001639176] Chr1:68430961 [GRCh38]
Chr1:68896644 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.12G>T (p.Gln4His) single nucleotide variant not provided [RCV001090222] Chr1:68448706 [GRCh38]
Chr1:68914389 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.859-11C>T single nucleotide variant Leber congenital amaurosis 2 [RCV001097021]|Leber congenital amaurosis 2 [RCV002069636]|Retinitis pigmentosa [RCV001097022] Chr1:68439092 [GRCh38]
Chr1:68904775 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) single nucleotide variant Autism [RCV001003571] Chr1:68438231 [GRCh38]
Chr1:68903914 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.*192A>G single nucleotide variant Leber congenital amaurosis 2 [RCV001100343]|Retinitis pigmentosa [RCV001100344] Chr1:68429584 [GRCh38]
Chr1:68895267 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.*886T>C single nucleotide variant Leber congenital amaurosis 2 [RCV001100235]|Retinitis pigmentosa [RCV001100236] Chr1:68428890 [GRCh38]
Chr1:68894573 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.*424C>A single nucleotide variant Leber congenital amaurosis 2 [RCV001100337]|Retinitis pigmentosa [RCV001100338] Chr1:68429352 [GRCh38]
Chr1:68895035 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.*341T>C single nucleotide variant Leber congenital amaurosis 2 [RCV001100339]|Retinitis pigmentosa [RCV001100340] Chr1:68429435 [GRCh38]
Chr1:68895118 [GRCh37]
Chr1:1p31.3
likely benign
NM_000329.3(RPE65):c.*339A>G single nucleotide variant Leber congenital amaurosis 2 [RCV001100342]|Retinitis pigmentosa [RCV001100341] Chr1:68429437 [GRCh38]
Chr1:68895120 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.93A>G (p.Thr31=) single nucleotide variant Leber congenital amaurosis 2 [RCV001682631] Chr1:68448625 [GRCh38]
Chr1:68914308 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.245+243C>T single nucleotide variant not provided [RCV001684014] Chr1:68446467 [GRCh38]
Chr1:68912150 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.1078G>A (p.Ala360Thr) single nucleotide variant not provided [RCV001586485] Chr1:68438237 [GRCh38]
Chr1:68903920 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1451-2del deletion Leber congenital amaurosis 2 [RCV001591856] Chr1:68429929 [GRCh38]
Chr1:68895612 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.314C>T (p.Thr105Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001591857] Chr1:68444815 [GRCh38]
Chr1:68910498 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1229C>A (p.Ser410Ter) single nucleotide variant Retinitis pigmentosa 20 [RCV001591858] Chr1:68431485 [GRCh38]
Chr1:68897168 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.859del deletion Leber congenital amaurosis 2 [RCV001591859] Chr1:68439081 [GRCh38]
Chr1:68904764 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.785_787del (p.Phe262_Lys263delinsTer) deletion Leber congenital amaurosis 2 [RCV001591861] Chr1:68439262..68439264 [GRCh38]
Chr1:68904945..68904947 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1205G>C (p.Trp402Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV001588014]|Retinitis pigmentosa 20 [RCV001588015] Chr1:68431509 [GRCh38]
Chr1:68897192 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.12-281T>C single nucleotide variant not provided [RCV001672334] Chr1:68448987 [GRCh38]
Chr1:68914670 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) single nucleotide variant Leber congenital amaurosis 2 [RCV001089889]|Leber congenital amaurosis 2 [RCV001210767]|Leber congenital amaurosis 2 [RCV002489725]|Leber congenital amaurosis [RCV001828545]|not specified [RCV001732038] Chr1:68429781 [GRCh38]
Chr1:68895464 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) single nucleotide variant Leber congenital amaurosis 2 [RCV001089896]|Leber congenital amaurosis 2 [RCV001206190] Chr1:68444542 [GRCh38]
Chr1:68910225 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.999-267A>G single nucleotide variant not provided [RCV001530726] Chr1:68438583 [GRCh38]
Chr1:68904266 [GRCh37]
Chr1:1p31.3
benign
NM_000329.3(RPE65):c.1150G>T (p.Val384Phe) single nucleotide variant Retinal dystrophy [RCV001073986] Chr1:68431564 [GRCh38]
Chr1:68897247 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.331C>A (p.Pro111Thr) single nucleotide variant Retinal dystrophy [RCV001074561] Chr1:68444798 [GRCh38]
Chr1:68910481 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.858+6T>C single nucleotide variant Leber congenital amaurosis 2 [RCV001097024]|Retinitis pigmentosa [RCV001097023] Chr1:68439185 [GRCh38]
Chr1:68904868 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.190C>T (p.Gln64Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV001250680] Chr1:68446765 [GRCh38]
Chr1:68912448 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del) microsatellite Leber congenital amaurosis 2 [RCV001250695]|Leber congenital amaurosis 2 [RCV001339011]|not specified [RCV002265965] Chr1:68431070..68431072 [GRCh38]
Chr1:68896753..68896755 [GRCh37]
Chr1:1p31.3
likely pathogenic|uncertain significance
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV001089890]|Leber congenital amaurosis 2 [RCV001201914] Chr1:68431135 [GRCh38]
Chr1:68896818 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic
NM_000329.3(RPE65):c.354G>T (p.Arg118Ser) single nucleotide variant Leber congenital amaurosis 2 [RCV001089893] Chr1:68444672 [GRCh38]
Chr1:68910355 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys) single nucleotide variant Leber congenital amaurosis 2 [RCV001052989] Chr1:68431322 [GRCh38]
Chr1:68897005 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.474G>C (p.Glu158Asp) single nucleotide variant Leber congenital amaurosis 2 [RCV001102520]|Retinitis pigmentosa [RCV001102519] Chr1:68444552 [GRCh38]
Chr1:68910235 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.246-11A>G single nucleotide variant Leber congenital amaurosis 2 [RCV001250681]|Leber congenital amaurosis 2 [RCV002480862]|Leber congenital amaurosis [RCV002307711] Chr1:68444894 [GRCh38]
Chr1:68910577 [GRCh37]
Chr1:1p31.3
pathogenic|likely pathogenic
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter) single nucleotide variant Leber congenital amaurosis 2 [RCV001039691] Chr1:68440989 [GRCh38]
Chr1:68906672 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1129-5C>T single nucleotide variant Leber congenital amaurosis 2 [RCV001098675]|Leber congenital amaurosis 2 [RCV001492656]|Retinitis pigmentosa [RCV001098676] Chr1:68431590 [GRCh38]
Chr1:68897273 [GRCh37]
Chr1:1p31.3
likely benign|uncertain significance
NM_000329.3(RPE65):c.*946C>T single nucleotide variant Leber congenital amaurosis 2 [RCV001100234]|Retinitis pigmentosa [RCV001100233] Chr1:68428830 [GRCh38]
Chr1:68894513 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.400_402del (p.Val134del) deletion Leber congenital amaurosis 2 [RCV001207157] Chr1:68444624..68444626 [GRCh38]
Chr1:68910307..68910309 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.576T>A (p.Ile192=) single nucleotide variant Leber congenital amaurosis 2 [RCV001100590]|Retinitis pigmentosa [RCV001100591] Chr1:68440920 [GRCh38]
Chr1:68906603 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.*554C>T single nucleotide variant Leber congenital amaurosis 2 [RCV001096818]|Retinitis pigmentosa [RCV001096819] Chr1:68429222 [GRCh38]
Chr1:68894905 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) single nucleotide variant Leber congenital amaurosis 2 [RCV001089891]|Leber congenital amaurosis 2 [RCV001862663]|Retinitis pigmentosa [RCV001102321] Chr1:68431292 [GRCh38]
Chr1:68896975 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) single nucleotide variant Retinal dystrophy [RCV001073373] Chr1:68438275 [GRCh38]
Chr1:68903958 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.440_441del (p.Thr147fs) microsatellite Leber congenital amaurosis 2 [RCV001250704]|Leber congenital amaurosis 2 [RCV001388258]|Leber congenital amaurosis 2 [RCV002499440]|Leber congenital amaurosis [RCV001830054] Chr1:68444585..68444586 [GRCh38]
Chr1:68910268..68910269 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.444_445del (p.Glu148fs) microsatellite Leber congenital amaurosis 2 [RCV001250707] Chr1:68444581..68444582 [GRCh38]
Chr1:68910264..68910265 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1338+3A>T single nucleotide variant Leber congenital amaurosis 2 [RCV001202301] Chr1:68431279 [GRCh38]
Chr1:68896962 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe) single nucleotide variant Leber congenital amaurosis 2 [RCV001102431]|Retinitis pigmentosa [RCV001102430] Chr1:68439020 [GRCh38]
Chr1:68904703 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.268G>A (p.Val90Ile) single nucleotide variant Leber congenital amaurosis 2 [RCV001041393]|Leber congenital amaurosis [RCV001275288] Chr1:68444861 [GRCh38]
Chr1:68910544 [GRCh37]
Chr1:1p31.3
uncertain significance
NM_000329.3(RPE65):c.227A>C (p.His76Pro) single nucleotide variant Leber congenital amaurosis [RCV001003188] Chr1:68446728 [GRCh38]
Chr1:68912411 [GRCh37]
Chr1:1p31.3
pathogenic
NM_000329.3(RPE65):c.1129-14A>G single nucleotide variant Leber congenital amaurosis 2 [RCV001100472]|Leber congenital amaurosis 2 [RCV001520770]|Retinitis pigmentosa [RCV001100473]|not specified [RCV001000947] Chr1:68431599 [GRCh38]
Chr1:68897282 [GRCh37]
Chr1:1p31.3
benign|likely benign|uncertain significance
NM_000329.3(RPE65):c.722A>T (p.His241Leu) single nucleotide variant Retinitis pigmentosa [RCV001003187] Chr1:68439564 [GRCh38]
Chr1:68905247 [GRCh37]
Chr1:1p31.3
pathogenic