CRB1 (crumbs cell polarity complex component 1) - Rat Genome Database

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Gene: CRB1 (crumbs cell polarity complex component 1) Homo sapiens
Analyze
Symbol: CRB1
Name: crumbs cell polarity complex component 1
RGD ID: 1320564
HGNC Page HGNC:2343
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in establishment or maintenance of epithelial cell apical/basal polarity and heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Predicted to act upstream of with a positive effect on gene expression. Predicted to act upstream of with a negative effect on protein localization. Predicted to act upstream of or within several processes, including detection of light stimulus involved in visual perception; eye morphogenesis; and neurogenesis. Located in adherens junction. Part of protein-containing complex. Implicated in pigmented paravenous chorioretinal atrophy and retinal disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CRB1-A; CRB1-B; CRB1-C; crumbs 1, cell polarity complex component; crumbs family member 1, photoreceptor morphogenesis associated; crumbs homolog 1; LCA8; RP12
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
GRCh381197,201,504 - 197,478,455 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1197,268,204 - 197,478,455 (+)EnsemblGRCh38hg38GRCh38
GRCh371197,170,634 - 197,447,585 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,504,031 - 195,714,208 (+)NCBINCBI36Build 36hg18NCBI36
Build 341193,969,064 - 194,179,241NCBI
Celera1170,362,823 - 170,573,037 (+)NCBICelera
Cytogenetic Map1q31.3NCBI
HuRef1168,328,124 - 168,606,472 (+)NCBIHuRef
CHM1_11198,593,055 - 198,870,040 (+)NCBICHM1_1
T2T-CHM13v2.01196,463,303 - 196,740,260 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal choroid morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal optic disc morphology  (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)
Aplasia/Hypoplasia of the cerebellar vermis  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Cataract  (IAGP)
Childhood onset  (IAGP)
Choriocapillaris atrophy  (IAGP)
Chorioretinal atrophy  (IAGP)
Conductive hearing impairment  (IAGP)
Cone dystrophy  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Deeply set eye  (IAGP)
Encephalocele  (IAGP)
Esotropia  (IAGP)
Exotropia  (IAGP)
Eye poking  (IAGP)
Gastrointestinal stroma tumor  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
High hypermetropia  (IAGP)
Hyperinsulinemia  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadism  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Keratoconus  (IAGP)
Macular coloboma  (IAGP)
Macular dystrophy  (IAGP)
Microphthalmia  (IAGP)
Nummular pigmentation of the fundus  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Parathyroid carcinoma  (IAGP)
Paravenous chorioretinal atrophy  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor visual behavior for age  (IAGP)
Posterior subcapsular cataract  (IAGP)
Progressive night blindness  (IAGP)
Reduced visual acuity  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced visual acuity  (IAGP)
Strabismus  (IAGP)
Type II diabetes mellitus  (IAGP)
Undetectable electroretinogram  (IAGP)
Visual impairment  (IAGP)
Vitreoretinopathy  (IAGP)
X-linked inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). den Hollander AI, etal., Nat Genet. 1999 Oct;23(2):217-21.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. Henderson RH, etal., Br J Ophthalmol. 2011 Jun;95(6):811-7. doi: 10.1136/bjo.2010.186882. Epub 2010 Oct 17.
4. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation. Khan AO, etal., Ophthalmic Genet. 2014 Sep;35(3):130-7. doi: 10.3109/13816810.2013.804097. Epub 2013 Jun 14.
5. Correction of the Crb1rd8 allele and retinal phenotype in C57BL/6N mice via TALEN-mediated homology-directed repair. Low BE, etal., Invest Ophthalmol Vis Sci. 2014 Jan 20;55(1):387-95. doi: 10.1167/iovs.13-13278.
6. Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. McKay GJ, etal., Invest Ophthalmol Vis Sci. 2005 Jan;46(1):322-8.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. Targeted ablation of CRB1 and CRB2 in retinal progenitor cells mimics Leber congenital amaurosis. Pellissier LP, etal., PLoS Genet. 2013 Dec;9(12):e1003976. doi: 10.1371/journal.pgen.1003976. Epub 2013 Dec 5.
9. Evaluating Potential Therapies in a Mouse Model of Focal Retinal Degeneration with Age-related Macular Degeneration (AMD)-Like Lesions. Popp N, etal., J Clin Exp Ophthalmol. 2013 Oct 1;4(5):1000296.
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Robinson SW, etal., Am J Hum Genet. 2003 Apr;72(4):1047-52. Epub 2003 Mar 11.
14. A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1. van de Pavert SA, etal., J Neurosci. 2007 Jan 17;27(3):564-73.
15. Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies. Yang L, etal., Mol Vis. 2014 Mar 26;20:359-67. eCollection 2014.
16. A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia. Zhao M, etal., J Neurosci. 2015 Apr 15;35(15):6093-106. doi: 10.1523/JNEUROSCI.3412-14.2015.
Additional References at PubMed
PMID:8001962   PMID:8646891   PMID:10373321   PMID:11231775   PMID:11389483   PMID:11559858   PMID:11734541   PMID:11850624   PMID:11927608   PMID:12477932   PMID:12567265   PMID:12573663  
PMID:12700176   PMID:12843338   PMID:15024725   PMID:15174051   PMID:15459956   PMID:15914641   PMID:16272259   PMID:16505055   PMID:16543197   PMID:16710414   PMID:16767206   PMID:16936081  
PMID:17353931   PMID:17724218   PMID:17920587   PMID:17988153   PMID:18334942   PMID:18682814   PMID:19407021   PMID:19753312   PMID:20032318   PMID:20301475   PMID:20301590   PMID:20591486  
PMID:20801516   PMID:20805571   PMID:20816195   PMID:21378169   PMID:21757580   PMID:21873635   PMID:22065545   PMID:22219627   PMID:22863181   PMID:22876132   PMID:23001562   PMID:23077403  
PMID:23362850   PMID:23379534   PMID:23443024   PMID:23449718   PMID:23592920   PMID:23871396   PMID:24138049   PMID:24508727   PMID:24512366   PMID:24535598   PMID:24565864   PMID:24664696  
PMID:24811962   PMID:24925725   PMID:25323024   PMID:25760605   PMID:26165328   PMID:26312378   PMID:26914788   PMID:27007588   PMID:27096895   PMID:27113771   PMID:27258436   PMID:27806333  
PMID:28129017   PMID:28341475   PMID:28424578   PMID:28515229   PMID:28819299   PMID:29056580   PMID:29200130   PMID:29391521   PMID:29869924   PMID:30285347   PMID:30608181   PMID:30956116  
PMID:31103025   PMID:31322236   PMID:31462741   PMID:32393512   PMID:32620864   PMID:32689861   PMID:32865313   PMID:32901921   PMID:33342761   PMID:33541421   PMID:33579689   PMID:33633436  
PMID:33758649   PMID:33970760   PMID:34884448   PMID:34946856   PMID:35844135   PMID:36099972   PMID:36115989   PMID:37541258   PMID:37762234   PMID:37804373  


Genomics

Comparative Map Data
CRB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381197,201,504 - 197,478,455 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1197,268,204 - 197,478,455 (+)EnsemblGRCh38hg38GRCh38
GRCh371197,170,634 - 197,447,585 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,504,031 - 195,714,208 (+)NCBINCBI36Build 36hg18NCBI36
Build 341193,969,064 - 194,179,241NCBI
Celera1170,362,823 - 170,573,037 (+)NCBICelera
Cytogenetic Map1q31.3NCBI
HuRef1168,328,124 - 168,606,472 (+)NCBIHuRef
CHM1_11198,593,055 - 198,870,040 (+)NCBICHM1_1
T2T-CHM13v2.01196,463,303 - 196,740,260 (+)NCBIT2T-CHM13v2.0
Crb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391139,101,288 - 139,307,262 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1139,124,794 - 139,304,838 (-)EnsemblGRCm39 Ensembl
GRCm381139,176,649 - 139,379,316 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1139,197,056 - 139,377,100 (-)EnsemblGRCm38mm10GRCm38
MGSCv371141,094,831 - 141,273,653 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361141,014,754 - 141,193,452 (-)NCBIMGSCv36mm8
Celera1141,833,551 - 142,013,612 (-)NCBICelera
Cytogenetic Map1E4- FNCBI
cM Map160.87NCBI
Crb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81353,352,932 - 53,540,019 (-)NCBIGRCr8
mRatBN7.21350,801,484 - 50,989,261 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1350,800,959 - 50,989,261 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1353,408,027 - 53,587,968 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01354,695,960 - 54,875,896 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01351,963,725 - 52,151,483 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01356,270,519 - 56,462,893 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1356,270,781 - 56,462,834 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01361,413,282 - 61,480,872 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01361,292,273 - 61,369,526 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41352,558,317 - 52,725,099 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11352,572,656 - 52,715,591 (-)NCBI
Celera1351,073,846 - 51,253,703 (-)NCBICelera
Cytogenetic Map13q13NCBI
Crb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540633,817,605 - 34,005,943 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540633,817,754 - 34,005,937 (+)NCBIChiLan1.0ChiLan1.0
CRB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2151,895,729 - 52,177,256 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1151,867,477 - 52,146,450 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01172,794,523 - 173,076,045 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11177,174,431 - 177,389,289 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1177,174,431 - 177,422,867 (+)Ensemblpanpan1.1panPan2
CRB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.175,277,394 - 5,490,542 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl75,277,394 - 5,490,470 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha74,896,806 - 5,113,389 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.074,967,450 - 5,180,345 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl74,967,446 - 5,180,191 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.174,909,374 - 5,120,084 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.075,009,956 - 5,223,118 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.075,042,374 - 5,255,595 (-)NCBIUU_Cfam_GSD_1.0
Crb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934477,112,995 - 77,325,150 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365676,366,489 - 6,559,766 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365676,347,661 - 6,559,731 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CRB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1020,137,451 - 20,332,414 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11020,137,246 - 20,332,539 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21024,720,738 - 24,900,728 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CRB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12531,710,712 - 32,143,121 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2531,906,803 - 32,088,995 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605532,840,856 - 33,051,363 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Crb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247982,861,520 - 2,999,697 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247982,861,481 - 2,999,387 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CRB1
1439 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_201253.3(CRB1):c.3884_3904del (p.Glu1295_Cys1301del) deletion Leber congenital amaurosis 8 [RCV001526717] Chr1:197442166..197442186 [GRCh38]
Chr1:197411296..197411316 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.849-62T>G single nucleotide variant Leber congenital amaurosis 8 [RCV001526769]|Pigmented paravenous retinochoroidal atrophy [RCV001526770]|not provided [RCV001655792] Chr1:197347278 [GRCh38]
Chr1:197316408 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.2380C>A (p.His794Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV000553580] Chr1:197427705 [GRCh38]
Chr1:197396835 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.998G>A (p.Gly333Asp) single nucleotide variant Leber congenital amaurosis 8 [RCV000144466] Chr1:197356840 [GRCh38]
Chr1:197325970 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3:c.2185_2186insAluY2174_2185dup insertion Retinitis pigmentosa 12 [RCV000006083] Chr1:1q31-q32.1 pathogenic
NM_201253.3(CRB1):c.4121_4130del (p.Ala1374fs) deletion Leber congenital amaurosis 8 [RCV000006096]|Leber congenital amaurosis [RCV001003001]|Retinitis pigmentosa 12 [RCV000006095]|Retinitis pigmentosa 12 [RCV001851689]|not provided [RCV000086353] Chr1:197477775..197477784 [GRCh38]
Chr1:197446905..197446914 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.1410= (p.Leu470=) single nucleotide variant Retinitis pigmentosa 12 [RCV000528650] Chr1:197421238 [GRCh38]
Chr1:197390368 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV000132698]|Leber congenital amaurosis [RCV001002990]|Pigmented paravenous retinochoroidal atrophy [RCV003453099]|Retinal dystrophy [RCV001073589]|Retinitis pigmentosa 12 [RCV000792250]|Retinitis pigmentosa 12 [RCV003453098]|not provided [RCV000179572] Chr1:197421404 [GRCh38]
Chr1:197390534 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3122T>C (p.Met1041Thr) single nucleotide variant CRB1-Related Disorders [RCV000778213]|Leber congenital amaurosis 8 [RCV001250615]|Pigmented paravenous retinochoroidal atrophy [RCV003450614]|Retinal dystrophy [RCV001075294]|Retinitis pigmentosa 12 [RCV000006084]|Retinitis pigmentosa 12 [RCV001045972]|not provided [RCV000086336] Chr1:197434985 [GRCh38]
Chr1:197404115 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.2983G>T (p.Glu995Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV000006085]|not provided [RCV000086334] Chr1:197434846 [GRCh38]
Chr1:197403976 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) single nucleotide variant CRB1-related maculopathy [RCV001352991]|Leber congenital amaurosis 8 [RCV001250604]|Macular dystrophy [RCV000656137]|Pigmented paravenous retinochoroidal atrophy [RCV002496279]|Pigmented paravenous retinochoroidal atrophy [RCV003450615]|Retinal dystrophy [RCV001074882]|Retinitis pigmentosa 12 [RCV000006086]|Retinitis pigmentosa 12 [RCV001052374]|Retinitis pigmentosa [RCV000787577]|Retinitis pigmentosa-deafness syndrome [RCV003447471]|not provided [RCV000086317] Chr1:197427615 [GRCh38]
Chr1:197396745 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257864]|Leber congenital amaurosis 8 [RCV001250601]|Leber congenital amaurosis [RCV001826422]|Pigmented paravenous retinochoroidal atrophy [RCV001196030]|Pigmented paravenous retinochoroidal atrophy [RCV002496280]|Retinal dystrophy [RCV001074789]|Retinitis pigmentosa 12 [RCV000006087]|Retinitis pigmentosa 12 [RCV000809110]|Retinitis pigmentosa [RCV000787576]|not provided [RCV000086315] Chr1:197427559 [GRCh38]
Chr1:197396689 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV000006088]|Pigmented paravenous retinochoroidal atrophy [RCV002490326]|not provided [RCV000086340] Chr1:197435162 [GRCh38]
Chr1:197404292 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.3997G>T (p.Glu1333Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV000006089] Chr1:197442284 [GRCh38]
Chr1:197411414 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250606]|Leber congenital amaurosis [RCV001275651]|Pigmented paravenous retinochoroidal atrophy [RCV002504753]|Pigmented paravenous retinochoroidal atrophy [RCV003450616]|Retinal dystrophy [RCV000787826]|Retinitis pigmentosa 12 [RCV000006090]|Retinitis pigmentosa 12 [RCV000691427]|Retinitis pigmentosa [RCV000787578]|not provided [RCV000578757] Chr1:197427726 [GRCh38]
Chr1:197396856 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3541T>C (p.Cys1181Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV000006091]|not provided [RCV000086346] Chr1:197435404 [GRCh38]
Chr1:197404534 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.484G>A (p.Val162Met) single nucleotide variant Leber congenital amaurosis 8 [RCV000262530]|Pigmented paravenous retinochoroidal atrophy [RCV000006092]|Retinitis pigmentosa 12 [RCV001080229]|Retinitis pigmentosa [RCV000353078]|not provided [RCV000723716]|not specified [RCV000082821] Chr1:197328835 [GRCh38]
Chr1:197297965 [GRCh37]
Chr1:1q31.3
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) single nucleotide variant Early-onset retinal dystrophy [RCV000786009]|Leber congenital amaurosis 8 [RCV000006093]|Leber congenital amaurosis [RCV001002998]|Pigmented paravenous retinochoroidal atrophy [RCV003450617]|Retinal dystrophy [RCV001073404]|Retinitis pigmentosa 12 [RCV000006094]|Retinitis pigmentosa 12 [RCV000648818]|not provided [RCV000086341] Chr1:197435170 [GRCh38]
Chr1:197404300 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.2(CRB1):c.1171+3423T>A single nucleotide variant Lung cancer [RCV000090327] Chr1:197360436 [GRCh38]
Chr1:197329566 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) single nucleotide variant CRB1-Related Disorders [RCV000778211]|CRB1-related disorder [RCV003313928]|Cone dystrophy [RCV003324500]|Leber congenital amaurosis 8 [RCV000032814]|Leber congenital amaurosis [RCV001275657]|Pigmented paravenous retinochoroidal atrophy [RCV000762874]|Pigmented paravenous retinochoroidal atrophy [RCV001097540]|Retinal dystrophy [RCV000505155]|Retinitis pigmentosa 12 [RCV000032815]|Retinitis pigmentosa 12 [RCV000554663]|Retinitis pigmentosa [RCV000787579]|not provided [RCV000086331] Chr1:197434706 [GRCh38]
Chr1:197403836 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|not provided
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1 copy number loss See cases [RCV000053948] Chr1:179032905..199724897 [GRCh38]
Chr1:179002040..199694025 [GRCh37]
Chr1:177268663..197960648 [NCBI36]
Chr1:1q25.2-32.1
pathogenic
NM_201253.3(CRB1):c.1913C>T (p.Ser638Leu) single nucleotide variant Retinal dystrophy [RCV000505040]|Retinitis pigmentosa 12 [RCV001854256] Chr1:197421741 [GRCh38]
Chr1:197390871 [GRCh37]
Chr1:195657494 [NCBI36]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.2(CRB1):c.2867G>A (p.Gly956Glu) single nucleotide variant Malignant melanoma [RCV000064429] Chr1:197434730 [GRCh38]
Chr1:197403860 [GRCh37]
Chr1:195670483 [NCBI36]
Chr1:1q31.3
not provided
NM_201253.2(CRB1):c.2900G>A (p.Gly967Glu) single nucleotide variant Malignant melanoma [RCV000064430] Chr1:197434763 [GRCh38]
Chr1:197403893 [GRCh37]
Chr1:195670516 [NCBI36]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.506G>A (p.Gly169Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV001883235] Chr1:197328857 [GRCh38]
Chr1:197297987 [GRCh37]
Chr1:195564610 [NCBI36]
Chr1:1q31.3
uncertain significance|not provided
NM_201253.2(CRB1):c.1962C>T (p.Thr654=) single nucleotide variant Malignant melanoma [RCV000060036] Chr1:197421790 [GRCh38]
Chr1:197390920 [GRCh37]
Chr1:195657543 [NCBI36]
Chr1:1q31.3
not provided
NM_201253.2(CRB1):c.3376C>T (p.Leu1126Phe) single nucleotide variant Malignant melanoma [RCV000060037] Chr1:197435239 [GRCh38]
Chr1:197404369 [GRCh37]
Chr1:195670992 [NCBI36]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.3211C>T (p.Leu1071Phe) single nucleotide variant not provided [RCV000082820] Chr1:197435074 [GRCh38]
Chr1:197404204 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) deletion Autosomal recessive bestrophinopathy [RCV000615750]|CRB1-Related Disorders [RCV000778208]|CRB1-related maculopathy [RCV001353031]|Cone dystrophy [RCV003324504]|Leber congenital amaurosis 1 [RCV000986483]|Leber congenital amaurosis 8 [RCV001250581]|Macular dystrophy [RCV000505172]|Retinal dystrophy [RCV001075317]|Retinitis pigmentosa 12 [RCV000798096]|not provided [RCV000598962]|not specified [RCV000082822] Chr1:197328844..197328852 [GRCh38]
Chr1:197297974..197297982 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|likely benign|uncertain significance
NM_201253.3(CRB1):c.71-12A>T single nucleotide variant Leber congenital amaurosis 8 [RCV000294788]|Pigmented paravenous retinochoroidal atrophy [RCV000398738]|Retinitis pigmentosa 12 [RCV001517599]|Retinitis pigmentosa [RCV000345158]|not specified [RCV000082823] Chr1:197328410 [GRCh38]
Chr1:197297540 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.112del (p.Ser38fs) deletion Leber congenital amaurosis 8 [RCV003474689]|Retinitis pigmentosa 12 [RCV001854502]|not provided [RCV000086303] Chr1:197328462 [GRCh38]
Chr1:197297592 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV001250593]|Leber congenital amaurosis [RCV001002989]|Pigmented paravenous retinochoroidal atrophy [RCV002498468]|Pigmented paravenous retinochoroidal atrophy [RCV003453011]|Retinitis pigmentosa 12 [RCV001857423]|Retinitis pigmentosa 12 [RCV003453010]|not provided [RCV000086304] Chr1:197356990 [GRCh38]
Chr1:197326120 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.1208C>G (p.Ser403Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003474690]|not provided [RCV000086305] Chr1:197421036 [GRCh38]
Chr1:197390166 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.1298A>G (p.Tyr433Cys) single nucleotide variant not provided [RCV000086306] Chr1:197421126 [GRCh38]
Chr1:197390256 [GRCh37]
Chr1:1q31.3
uncertain significance|not provided
NM_201253.3(CRB1):c.1428C>T (p.Thr476=) single nucleotide variant Leber congenital amaurosis 8 [RCV000310950]|Pigmented paravenous retinochoroidal atrophy [RCV000274599]|Retinitis pigmentosa 12 [RCV001080606]|Retinitis pigmentosa [RCV000370258]|not provided [RCV000086307] Chr1:197421256 [GRCh38]
Chr1:197390386 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance|not provided
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV003453012]|Leber congenital amaurosis [RCV001826777]|Pigmented paravenous retinochoroidal atrophy [RCV003453013]|Retinal dystrophy [RCV003235040]|Retinitis pigmentosa 12 [RCV000797320]|Retinitis pigmentosa 12 [RCV001376374]|not provided [RCV000086308] Chr1:197421266 [GRCh38]
Chr1:197390396 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.1439G>A (p.Cys480Tyr) single nucleotide variant not provided [RCV000086309] Chr1:197421267 [GRCh38]
Chr1:197390397 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.1647T>C (p.Asn549=) single nucleotide variant Leber congenital amaurosis 8 [RCV000324209]|Pigmented paravenous retinochoroidal atrophy [RCV000378808]|Retinitis pigmentosa 12 [RCV001084432]|Retinitis pigmentosa [RCV000283110]|not provided [RCV000086310] Chr1:197421475 [GRCh38]
Chr1:197390605 [GRCh37]
Chr1:1q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu) single nucleotide variant Leber congenital amaurosis 8 [RCV001101093]|Leber congenital amaurosis [RCV001831899]|Pigmented paravenous retinochoroidal atrophy [RCV001101092]|Retinitis pigmentosa 12 [RCV001296992]|Retinitis pigmentosa 12 [RCV003453014]|Retinitis pigmentosa [RCV001101094]|not provided [RCV000086311] Chr1:197421863 [GRCh38]
Chr1:197390993 [GRCh37]
Chr1:1q31.3
uncertain significance|not provided
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV003453016]|Leber congenital amaurosis [RCV001831900]|Retinitis pigmentosa 12 [RCV001046839]|Retinitis pigmentosa 12 [RCV003453015]|not provided [RCV000086312] Chr1:197421870 [GRCh38]
Chr1:197391000 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.2128G>C (p.Glu710Gln) single nucleotide variant Leber congenital amaurosis 8 [RCV001250598]|not provided [RCV000086313] Chr1:197421956 [GRCh38]
Chr1:197391086 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.2222T>C (p.Met741Thr) single nucleotide variant Leber congenital amaurosis 8 [RCV001250657]|Retinitis pigmentosa 12 [RCV001380408]|Retinitis pigmentosa 12 [RCV003453017]|not provided [RCV000086314] Chr1:197427547 [GRCh38]
Chr1:197396677 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.2245_2247del (p.Ser749del) deletion Leber congenital amaurosis 8 [RCV003474691]|Retinitis pigmentosa 12 [RCV001854503]|not provided [RCV000086316] Chr1:197427568..197427570 [GRCh38]
Chr1:197396698..197396700 [GRCh37]
Chr1:1q31.3
likely pathogenic|not provided
NM_201253.3(CRB1):c.2306G>A (p.Arg769His) single nucleotide variant Leber congenital amaurosis 8 [RCV000387362]|Leber congenital amaurosis [RCV001275650]|Pigmented paravenous retinochoroidal atrophy [RCV000318162]|Retinitis pigmentosa 12 [RCV001082958]|Retinitis pigmentosa 12 [RCV003453018]|Retinitis pigmentosa [RCV000293077]|not provided [RCV000086318]|not specified [RCV000153111] Chr1:197427631 [GRCh38]
Chr1:197396761 [GRCh37]
Chr1:1q31.3
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_201253.3(CRB1):c.2441T>A (p.Leu814Gln) single nucleotide variant not provided [RCV000086319] Chr1:197427766 [GRCh38]
Chr1:197396896 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.2479G>T (p.Gly827Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250636]|not provided [RCV000086320] Chr1:197427804 [GRCh38]
Chr1:197396934 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.2509G>C (p.Asp837His) single nucleotide variant not provided [RCV000086321] Chr1:197427834 [GRCh38]
Chr1:197396964 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.2549_2552del (p.Gly850fs) deletion Leber congenital amaurosis 8 [RCV001004993]|not provided [RCV000086322] Chr1:197427873..197427876 [GRCh38]
Chr1:197397003..197397006 [GRCh37]
Chr1:1q31.3
likely pathogenic|not provided
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr) single nucleotide variant Leber congenital amaurosis 8 [RCV001250658]|Leber congenital amaurosis [RCV001002996]|Retinitis pigmentosa 12 [RCV000529725]|not provided [RCV000086323] Chr1:197427880 [GRCh38]
Chr1:197397010 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.2(CRB1):c.256_257dupGT (p.Asn87Terfs) duplication not provided [RCV000086324] Chr1:197328607..197328608 [GRCh38]
Chr1:197297737..197297738 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.2613dup (p.Ala872fs) duplication not provided [RCV000086325] Chr1:197427937..197427938 [GRCh38]
Chr1:197397067..197397068 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.2671T>G (p.Cys891Gly) single nucleotide variant not provided [RCV000086326] Chr1:197427996 [GRCh38]
Chr1:197397126 [GRCh37]
Chr1:1q31.3
likely pathogenic|not provided
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV001526761]|Leber congenital amaurosis [RCV001826778]|Pigmented paravenous retinochoroidal atrophy [RCV000763788]|Retinitis pigmentosa 12 [RCV001239396]|Retinitis pigmentosa 12 [RCV001563888]|not provided [RCV000086327] Chr1:197429453 [GRCh38]
Chr1:197398583 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance|not provided
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250608]|Leber congenital amaurosis [RCV001275654]|Macular dystrophy [RCV000505142]|Pigmented paravenous retinochoroidal atrophy [RCV003453019]|Retinal dystrophy [RCV001074017]|Retinitis pigmentosa 12 [RCV000542027]|Retinitis pigmentosa 12 [RCV001376474]|Retinitis pigmentosa [RCV001723672]|not provided [RCV000086328] Chr1:197429460 [GRCh38]
Chr1:197398590 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.2823G>A (p.Pro941=) single nucleotide variant Leber congenital amaurosis 8 [RCV003453021]|Leber congenital amaurosis [RCV001831901]|Pigmented paravenous retinochoroidal atrophy [RCV002477255]|Pigmented paravenous retinochoroidal atrophy [RCV003453022]|Retinitis pigmentosa 12 [RCV001080662]|Retinitis pigmentosa 12 [RCV003453020]|not provided [RCV000086329] Chr1:197429595 [GRCh38]
Chr1:197398725 [GRCh37]
Chr1:1q31.3
likely benign|not provided
NM_201253.3(CRB1):c.2842T>A (p.Cys948Ser) single nucleotide variant not provided [RCV000086330] Chr1:197429614 [GRCh38]
Chr1:197398744 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.2853dup (p.Ala952fs) duplication Leber congenital amaurosis 8 [RCV001250610]|not provided [RCV000086332] Chr1:197434715..197434716 [GRCh38]
Chr1:197403845..197403846 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.2883ATT[1] (p.Leu962del) microsatellite Retinitis pigmentosa 12 [RCV001854504]|not provided [RCV000086333] Chr1:197434745..197434747 [GRCh38]
Chr1:197403875..197403877 [GRCh37]
Chr1:1q31.3
uncertain significance|not provided
NM_201253.3(CRB1):c.3074G>T (p.Ser1025Ile) single nucleotide variant Leber congenital amaurosis 8 [RCV001250614]|not provided [RCV000086335] Chr1:197434937 [GRCh38]
Chr1:197404067 [GRCh37]
Chr1:1q31.3
likely pathogenic|not provided
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=) single nucleotide variant Leber congenital amaurosis 8 [RCV003453024]|Leber congenital amaurosis [RCV001826779]|Pigmented paravenous retinochoroidal atrophy [RCV003453025]|Retinitis pigmentosa 12 [RCV001087352]|Retinitis pigmentosa 12 [RCV003453023]|not provided [RCV000086337] Chr1:197435034 [GRCh38]
Chr1:197404164 [GRCh37]
Chr1:1q31.3
benign|likely benign|not provided
NM_201253.3(CRB1):c.3212T>C (p.Leu1071Pro) single nucleotide variant not provided [RCV000086338] Chr1:197435075 [GRCh38]
Chr1:197404205 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr) single nucleotide variant Leber congenital amaurosis 8 [RCV003453027]|Pigmented paravenous retinochoroidal atrophy [RCV002247492]|Retinitis pigmentosa 12 [RCV001857424]|Retinitis pigmentosa 12 [RCV003453026]|not provided [RCV000086339] Chr1:197435162 [GRCh38]
Chr1:197404292 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.3320T>C (p.Leu1107Pro) single nucleotide variant Leber congenital amaurosis 8 [RCV001250617]|Pigmented paravenous retinochoroidal atrophy [RCV003453029]|Retinal dystrophy [RCV001075774]|Retinitis pigmentosa 12 [RCV001378740]|Retinitis pigmentosa 12 [RCV003453028]|not provided [RCV000086342] Chr1:197435183 [GRCh38]
Chr1:197404313 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.3320T>G (p.Leu1107Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV001250629]|Retinitis pigmentosa 12 [RCV002514529]|not provided [RCV000086343] Chr1:197435183 [GRCh38]
Chr1:197404313 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.3331G>T (p.Glu1111Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV002514530]|not provided [RCV000086344] Chr1:197435194 [GRCh38]
Chr1:197404324 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.3347del (p.Phe1116fs) deletion Leber congenital amaurosis 8 [RCV001250652]|not provided [RCV000086345] Chr1:197435208 [GRCh38]
Chr1:197404338 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.3614G>A (p.Gly1205Glu) single nucleotide variant not provided [RCV000086347] Chr1:197435477 [GRCh38]
Chr1:197404607 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.3879G>A (p.Trp1293Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250619]|Retinitis pigmentosa 12 [RCV001857425]|not provided [RCV000086348] Chr1:197442166 [GRCh38]
Chr1:197411296 [GRCh37]
Chr1:1q31.3
pathogenic|not provided
NM_201253.3(CRB1):c.3949A>C (p.Asn1317His) single nucleotide variant Retinitis pigmentosa 12 [RCV001240026]|not provided [RCV000086349] Chr1:197442236 [GRCh38]
Chr1:197411366 [GRCh37]
Chr1:1q31.3
uncertain significance|not provided
NM_201253.3(CRB1):c.3961T>A (p.Cys1321Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV001250646]|not provided [RCV000086350] Chr1:197442248 [GRCh38]
Chr1:197411378 [GRCh37]
Chr1:1q31.3
likely pathogenic|not provided
NM_201253.3(CRB1):c.3961_3970del (p.Cys1321fs) deletion not provided [RCV000086351] Chr1:197442247..197442256 [GRCh38]
Chr1:197411377..197411386 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His) single nucleotide variant Leber congenital amaurosis 1 [RCV000986498]|Leber congenital amaurosis 8 [RCV000292400]|Leber congenital amaurosis [RCV001271906]|Pigmented paravenous retinochoroidal atrophy [RCV000400954]|Retinitis pigmentosa 12 [RCV001080373]|Retinitis pigmentosa 12 [RCV001532870]|Retinitis pigmentosa [RCV000351445]|not provided [RCV000086352]|not specified [RCV000174188] Chr1:197442279 [GRCh38]
Chr1:197411409 [GRCh37]
Chr1:1q31.3
benign|likely benign|not provided
NM_201253.2(CRB1):c.4118_4127delGGGCAACTCA (p.Ala1374Glufs) deletion not provided [RCV000086353] Chr1:197477776..197477785 [GRCh38]
Chr1:197446906..197446915 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.428_432del (p.Arg143fs) deletion not provided [RCV000086354] Chr1:197328779..197328783 [GRCh38]
Chr1:197297909..197297913 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.430T>G (p.Phe144Val) single nucleotide variant Leber congenital amaurosis [RCV001826780]|Retinitis pigmentosa 12 [RCV001242505]|Retinitis pigmentosa 12 [RCV001588920]|not provided [RCV000086355] Chr1:197328781 [GRCh38]
Chr1:197297911 [GRCh37]
Chr1:1q31.3
likely pathogenic|likely benign|uncertain significance|not provided
NM_201253.3(CRB1):c.481dup (p.Ala161fs) duplication not provided [RCV000086356] Chr1:197328828..197328829 [GRCh38]
Chr1:197297958..197297959 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.482C>T (p.Ala161Val) single nucleotide variant not provided [RCV000086357] Chr1:197328833 [GRCh38]
Chr1:197297963 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.2(CRB1):c.611_617delAAATAGG (p.Ile205Aspfs) deletion not provided [RCV000086358] Chr1:197328962..197328968 [GRCh38]
Chr1:197298092..197298098 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) deletion Leber congenital amaurosis 1 [RCV000986484]|Leber congenital amaurosis 8 [RCV001250626]|Leber congenital amaurosis [RCV000787584]|Pigmented paravenous retinochoroidal atrophy [RCV002490751]|Pigmented paravenous retinochoroidal atrophy [RCV003453030]|Retinal dystrophy [RCV001073493]|Retinitis pigmentosa 12 [RCV001047855]|Retinitis pigmentosa 12 [RCV001376400]|Retinitis pigmentosa [RCV000787583]|not provided [RCV000086359] Chr1:197328961..197328967 [GRCh38]
Chr1:197298091..197298097 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|not provided
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) single nucleotide variant Intellectual disability [RCV001251962]|Leber congenital amaurosis 1 [RCV000986485]|Leber congenital amaurosis 8 [RCV000382919]|Leber congenital amaurosis [RCV001271893]|Pigmented paravenous retinochoroidal atrophy [RCV000288080]|Retinitis pigmentosa 12 [RCV001080600]|Retinitis pigmentosa [RCV000787825]|not provided [RCV000086360] Chr1:197328965 [GRCh38]
Chr1:197298095 [GRCh37]
Chr1:1q31.3
likely pathogenic|likely benign|uncertain significance|not provided
NM_201253.3(CRB1):c.616_621del (p.Gly206_Arg207del) deletion not provided [RCV000086361] Chr1:197328966..197328971 [GRCh38]
Chr1:197298096..197298101 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.750T>G (p.Cys250Trp) single nucleotide variant not provided [RCV000086362] Chr1:197344378 [GRCh38]
Chr1:197313508 [GRCh37]
Chr1:1q31.3
not provided
NM_201253.3(CRB1):c.866C>T (p.Thr289Met) single nucleotide variant Leber congenital amaurosis 8 [RCV000339959]|Leber congenital amaurosis [RCV001275645]|Pigmented paravenous retinochoroidal atrophy [RCV003453032]|Retinitis pigmentosa 12 [RCV001079750]|Retinitis pigmentosa 12 [RCV003453031]|not provided [RCV000086363] Chr1:197347357 [GRCh38]
Chr1:197316487 [GRCh37]
Chr1:1q31.3
likely benign|not provided
NM_201253.3(CRB1):c.99G>T (p.Arg33Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV000391581]|Pigmented paravenous retinochoroidal atrophy [RCV000346080]|Retinitis pigmentosa 12 [RCV001082725]|Retinitis pigmentosa [RCV000309890]|not provided [RCV000087005] Chr1:197328450 [GRCh38]
Chr1:197297580 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance|not provided
NM_201253.3(CRB1):c.2842+33T>G single nucleotide variant not provided [RCV003222650] Chr1:197429647 [GRCh38]
Chr1:197398777 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1783G>A (p.Ala595Thr) single nucleotide variant Leber congenital amaurosis 8 [RCV001563787]|Retinitis pigmentosa 12 [RCV001563788]|not provided [RCV000171164] Chr1:197421611 [GRCh38]
Chr1:197390741 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.1180T>C (p.Cys394Arg) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257859]|not provided [RCV000171163] Chr1:197421008 [GRCh38]
Chr1:197390138 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs) deletion Autosomal recessive retinitis pigmentosa [RCV001257865]|not provided [RCV000171454] Chr1:197427651..197427657 [GRCh38]
Chr1:197396781..197396787 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.250A>G (p.Thr84Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV001303496] Chr1:197328601 [GRCh38]
Chr1:197297731 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3850A>G (p.Met1284Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001907526] Chr1:197438647 [GRCh38]
Chr1:197407777 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV003474924]|Retinitis pigmentosa [RCV000201433] Chr1:197429555 [GRCh38]
Chr1:197398685 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1459dup (p.Ser487fs) duplication Retinitis pigmentosa [RCV000201458] Chr1:197421284..197421285 [GRCh38]
Chr1:197390414..197390415 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3383del (p.Ile1128fs) deletion not provided [RCV000180718] Chr1:197435246 [GRCh38]
Chr1:197404376 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1043G>A (p.Cys348Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV000256380] Chr1:197356885 [GRCh38]
Chr1:197326015 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3893T>C (p.Ile1298Thr) single nucleotide variant not provided [RCV000174189] Chr1:197442180 [GRCh38]
Chr1:197411310 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1 copy number loss See cases [RCV000135590] Chr1:189034483..199615866 [GRCh38]
Chr1:189003614..199584994 [GRCh37]
Chr1:187270237..197851617 [NCBI36]
Chr1:1q31.1-32.1
pathogenic
GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1 copy number loss See cases [RCV000135432] Chr1:195514309..197896494 [GRCh38]
Chr1:195483439..197865624 [GRCh37]
Chr1:193750062..196132247 [NCBI36]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1410A>G (p.Leu470=) single nucleotide variant Leber congenital amaurosis 8 [RCV001532863]|Leber congenital amaurosis [RCV001826822]|Pigmented paravenous retinochoroidal atrophy [RCV001532864]|Retinitis pigmentosa 12 [RCV001517600]|Retinitis pigmentosa 12 [RCV001532865]|not specified [RCV000153108] Chr1:197421238 [GRCh38]
Chr1:197390368 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) single nucleotide variant Leber congenital amaurosis 8 [RCV000327584]|Leber congenital amaurosis [RCV001275648]|Pigmented paravenous retinochoroidal atrophy [RCV000272435]|Retinitis pigmentosa 12 [RCV001085035]|Retinitis pigmentosa 12 [RCV001532866]|Retinitis pigmentosa [RCV000377522]|not provided [RCV000755993]|not specified [RCV000153109] Chr1:197421361 [GRCh38]
Chr1:197390491 [GRCh37]
Chr1:1q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) single nucleotide variant Leber congenital amaurosis 8 [RCV001250605]|Leber congenital amaurosis [RCV001831949]|Pigmented paravenous retinochoroidal atrophy [RCV002247550]|Retinitis pigmentosa 12 [RCV001235069]|not provided [RCV000153110] Chr1:197427616 [GRCh38]
Chr1:197396746 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3166G>T (p.Asp1056Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001526715]|Retinitis pigmentosa 12 [RCV001850090]|not provided [RCV000153112] Chr1:197435029 [GRCh38]
Chr1:197404159 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.600A>G (p.Thr200=) single nucleotide variant Leber congenital amaurosis 8 [RCV000277900]|Leber congenital amaurosis [RCV001832005]|Pigmented paravenous retinochoroidal atrophy [RCV000386258]|Retinitis pigmentosa 12 [RCV000878480]|Retinitis pigmentosa [RCV000331649]|not provided [RCV001727616]|not specified [RCV000176012] Chr1:197328951 [GRCh38]
Chr1:197298081 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys) single nucleotide variant Leber congenital amaurosis 8 [RCV003454449]|Leber congenital amaurosis [RCV001832006]|Pigmented paravenous retinochoroidal atrophy [RCV003454450]|Retinitis pigmentosa 12 [RCV001240269]|Retinitis pigmentosa 12 [RCV003454448]|not provided [RCV000176013] Chr1:197328702 [GRCh38]
Chr1:197297832 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) single nucleotide variant Leber congenital amaurosis 8 [RCV001563786]|Retinitis pigmentosa 12 [RCV001087243]|Retinitis pigmentosa 12 [RCV001376275]|not provided [RCV000488061] Chr1:197427787 [GRCh38]
Chr1:197396917 [GRCh37]
Chr1:1q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201253.3(CRB1):c.3317A>G (p.Tyr1106Cys) single nucleotide variant Leber congenital amaurosis 8 [RCV003454474]|Pigmented paravenous retinochoroidal atrophy [RCV003454475]|Retinitis pigmentosa 12 [RCV001852256]|Retinitis pigmentosa 12 [RCV003454473]|not provided [RCV000180717] Chr1:197435180 [GRCh38]
Chr1:197404310 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.*116A>G single nucleotide variant Leber congenital amaurosis 8 [RCV000260336]|Pigmented paravenous retinochoroidal atrophy [RCV000361938]|Retinitis pigmentosa [RCV000323619] Chr1:197477995 [GRCh38]
Chr1:197447125 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.2(CRB1):c.-204C>T single nucleotide variant Leber congenital amaurosis 8 [RCV000319632]|Pigmented paravenous retinochoroidal atrophy [RCV000374255]|Retinitis pigmentosa [RCV000259814] Chr1:197268209 [GRCh38]
Chr1:197237339 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.1172-15T>A single nucleotide variant Leber congenital amaurosis [RCV000336321]|Pigmented paravenous retinochoroidal atrophy [RCV000304813]|Retinitis Pigmentosa, Recessive [RCV000401040]|Retinitis pigmentosa 12 [RCV001491386] Chr1:197420985 [GRCh38]
Chr1:197390115 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2227G>C (p.Val743Leu) single nucleotide variant Leber congenital amaurosis 8 [RCV001580469]|Retinitis pigmentosa 12 [RCV000199723] Chr1:197427552 [GRCh38]
Chr1:197396682 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1172-12A>G single nucleotide variant Leber congenital amaurosis 8 [RCV000355365]|Pigmented paravenous retinochoroidal atrophy [RCV000402144]|Retinitis pigmentosa 12 [RCV002519468]|Retinitis pigmentosa [RCV000301371] Chr1:197420988 [GRCh38]
Chr1:197390118 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.2677-8C>T single nucleotide variant Leber congenital amaurosis 8 [RCV000360917]|Leber congenital amaurosis [RCV001275653]|Pigmented paravenous retinochoroidal atrophy [RCV000261268]|Retinitis pigmentosa 12 [RCV000648819]|Retinitis pigmentosa 12 [RCV003445845]|Retinitis pigmentosa [RCV000297774]|not provided [RCV001651338] Chr1:197429441 [GRCh38]
Chr1:197398571 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_201253.3(CRB1):c.3750-3T>C single nucleotide variant Leber congenital amaurosis 8 [RCV000371471]|Pigmented paravenous retinochoroidal atrophy [RCV000342421]|Retinitis pigmentosa 12 [RCV001239382]|Retinitis pigmentosa [RCV000285227]|not provided [RCV000994219] Chr1:197438544 [GRCh38]
Chr1:197407674 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln) single nucleotide variant Leber congenital amaurosis 8 [RCV000490294]|Leber congenital amaurosis [RCV001275655]|Pigmented paravenous retinochoroidal atrophy [RCV000329706]|Retinitis pigmentosa 12 [RCV000946241]|Retinitis pigmentosa [RCV000262643] Chr1:197429486 [GRCh38]
Chr1:197398616 [GRCh37]
Chr1:1q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201253.3(CRB1):c.2128+15A>C single nucleotide variant Leber congenital amaurosis 8 [RCV000265260]|Pigmented paravenous retinochoroidal atrophy [RCV000310126]|Retinitis pigmentosa 12 [RCV001518715]|Retinitis pigmentosa 12 [RCV003445844]|Retinitis pigmentosa [RCV000364823]|not provided [RCV001533808] Chr1:197421971 [GRCh38]
Chr1:197391101 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_201253.3(CRB1):c.3878+15A>T single nucleotide variant Leber congenital amaurosis 8 [RCV000279430]|Pigmented paravenous retinochoroidal atrophy [RCV000400725]|Retinitis pigmentosa 12 [RCV001444410]|Retinitis pigmentosa [RCV000336749] Chr1:197438690 [GRCh38]
Chr1:197407820 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.2843-13C>T single nucleotide variant Leber congenital amaurosis 8 [RCV000346171]|Pigmented paravenous retinochoroidal atrophy [RCV000291108]|Retinitis pigmentosa 12 [RCV001517111]|Retinitis pigmentosa [RCV000380917] Chr1:197434693 [GRCh38]
Chr1:197403823 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.584G>T (p.Cys195Phe) single nucleotide variant Leber congenital amaurosis 8 [RCV003454773]|Macular dystrophy [RCV000656138]|Pigmented paravenous retinochoroidal atrophy [RCV002500956]|Pigmented paravenous retinochoroidal atrophy [RCV003454774]|Retinal dystrophy [RCV001075823]|Retinitis pigmentosa 12 [RCV001040337]|Retinitis pigmentosa 12 [RCV001542640]|not provided [RCV000255600] Chr1:197328935 [GRCh38]
Chr1:197298065 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg) single nucleotide variant Leber congenital amaurosis 1 [RCV000986493]|Leber congenital amaurosis 8 [RCV001250609]|Leber congenital amaurosis [RCV000515691]|Pigmented paravenous retinochoroidal atrophy [RCV001836643]|Retinitis pigmentosa 12 [RCV001389640]|Retinitis pigmentosa 12 [RCV003449270] Chr1:197429614 [GRCh38]
Chr1:197398744 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) single nucleotide variant Retinal dystrophy [RCV000225392] Chr1:197356848 [GRCh38]
Chr1:197325978 [GRCh37]
Chr1:1q31.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_201253.3(CRB1):c.807dup (p.Pro270fs) duplication Retinal dystrophy [RCV000225488] Chr1:197344433..197344434 [GRCh38]
Chr1:197313563..197313564 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) single nucleotide variant Retinal dystrophy [RCV000225544]|Retinitis pigmentosa 12 [RCV002519764] Chr1:197434880 [GRCh38]
Chr1:197404010 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.1612_1613insCTTA (p.Leu538fs) insertion Retinal dystrophy [RCV000225570]|Retinitis pigmentosa 12 [RCV001390795] Chr1:197421440..197421441 [GRCh38]
Chr1:197390570..197390571 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2869C>T (p.Gln957Ter) single nucleotide variant Retinal dystrophy [RCV000225597]|Retinitis pigmentosa 12 [RCV001854803] Chr1:197434732 [GRCh38]
Chr1:197403862 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.4159G>T (p.Glu1387Ter) single nucleotide variant Retinal dystrophy [RCV000225605] Chr1:197477817 [GRCh38]
Chr1:197446947 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV003454681]|Leber congenital amaurosis [RCV001833240]|Pigmented paravenous retinochoroidal atrophy [RCV003454682]|Retinal dystrophy [RCV000225453]|Retinitis pigmentosa 12 [RCV001069480]|Retinitis pigmentosa 12 [RCV001376283] Chr1:197427633 [GRCh38]
Chr1:197396763 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) single nucleotide variant Retinal dystrophy [RCV000225460]|Retinitis pigmentosa 12 [RCV002516254] Chr1:197429605 [GRCh38]
Chr1:197398735 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp) single nucleotide variant Retinal dystrophy [RCV000225667]|not specified [RCV003323464] Chr1:197427634 [GRCh38]
Chr1:197396764 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2843-1G>A single nucleotide variant Retinal dystrophy [RCV000225682] Chr1:197434705 [GRCh38]
Chr1:197403835 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter) single nucleotide variant Inborn genetic diseases [RCV000623037]|Leber congenital amaurosis 8 [RCV003451477]|Retinitis pigmentosa 12 [RCV001040018]|Retinitis pigmentosa 12 [RCV003451476]|Stargardt disease [RCV000678549] Chr1:197435035 [GRCh38]
Chr1:197404165 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) single nucleotide variant Leber congenital amaurosis 8 [RCV000313740]|Leber congenital amaurosis [RCV001833395]|Pigmented paravenous retinochoroidal atrophy [RCV000363592]|Retinitis pigmentosa 12 [RCV001082136]|Retinitis pigmentosa [RCV000407701]|not provided [RCV000585260] Chr1:197421931 [GRCh38]
Chr1:197391061 [GRCh37]
Chr1:1q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003454793]|Retinitis pigmentosa 12 [RCV001202291]|Retinitis pigmentosa 12 [RCV003454792]|Retinitis pigmentosa [RCV000787574]|not provided [RCV000322587] Chr1:197421010 [GRCh38]
Chr1:197390140 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) single nucleotide variant Leber congenital amaurosis 8 [RCV000285066]|Leber congenital amaurosis [RCV001271894]|Pigmented paravenous retinochoroidal atrophy [RCV000384124]|Retinitis pigmentosa 12 [RCV000945440]|Retinitis pigmentosa 12 [RCV003454863]|Retinitis pigmentosa [RCV000347681] Chr1:197344292 [GRCh38]
Chr1:197313422 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_201253.3(CRB1):c.1752C>T (p.Asp584=) single nucleotide variant Leber congenital amaurosis 8 [RCV000334922]|Leber congenital amaurosis [RCV001833418]|Pigmented paravenous retinochoroidal atrophy [RCV000400239]|Retinitis pigmentosa 12 [RCV000893286]|Retinitis pigmentosa [RCV000279892] Chr1:197421580 [GRCh38]
Chr1:197390710 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) single nucleotide variant Leber congenital amaurosis 8 [RCV000317013]|Pigmented paravenous retinochoroidal atrophy [RCV000371666]|Retinal dystrophy [RCV001073755]|Retinitis pigmentosa 12 [RCV000945740]|Retinitis pigmentosa [RCV000281831]|not provided [RCV002292503]|not specified [RCV000418233] Chr1:197427555 [GRCh38]
Chr1:197396685 [GRCh37]
Chr1:1q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201253.3(CRB1):c.2128+1G>A single nucleotide variant Retinitis pigmentosa 12 [RCV001807895] Chr1:197421957 [GRCh38]
Chr1:197391087 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.849-35T>C single nucleotide variant Leber congenital amaurosis 8 [RCV001526771]|Pigmented paravenous retinochoroidal atrophy [RCV001526788]|Retinitis pigmentosa 12 [RCV001526789]|not provided [RCV001640588]|not specified [RCV000244091] Chr1:197347305 [GRCh38]
Chr1:197316435 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) single nucleotide variant Leber congenital amaurosis 8 [RCV000274993]|Pigmented paravenous retinochoroidal atrophy [RCV000370799]|Retinitis pigmentosa 12 [RCV000952421]|Retinitis pigmentosa [RCV000313687] Chr1:197435091 [GRCh38]
Chr1:197404221 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.*28T>C single nucleotide variant Leber congenital amaurosis 8 [RCV000265822]|Pigmented paravenous retinochoroidal atrophy [RCV000358109]|Retinitis pigmentosa 12 [RCV001517601]|Retinitis pigmentosa 12 [RCV001532871]|Retinitis pigmentosa [RCV000310439]|not provided [RCV001597031]|not specified [RCV000244605] Chr1:197477907 [GRCh38]
Chr1:197447037 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys) single nucleotide variant Leber congenital amaurosis 8 [RCV001250639]|Pigmented paravenous retinochoroidal atrophy [RCV003449246]|Retinitis pigmentosa 12 [RCV001865496]|Retinitis pigmentosa 12 [RCV003449245]|not provided [RCV000487656] Chr1:197356865 [GRCh38]
Chr1:197325995 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2715G>A (p.Arg905=) single nucleotide variant Leber congenital amaurosis 8 [RCV000326100]|Pigmented paravenous retinochoroidal atrophy [RCV000275709]|Retinitis pigmentosa 12 [RCV000945918]|Retinitis pigmentosa 12 [RCV003454866]|Retinitis pigmentosa [RCV000388893] Chr1:197429487 [GRCh38]
Chr1:197398617 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala) single nucleotide variant Leber congenital amaurosis 8 [RCV000326319]|Pigmented paravenous retinochoroidal atrophy [RCV000275938]|Pigmented paravenous retinochoroidal atrophy [RCV002504036]|Retinitis pigmentosa 12 [RCV002522093]|Retinitis pigmentosa 12 [RCV003454864]|Retinitis pigmentosa [RCV000362264] Chr1:197421335 [GRCh38]
Chr1:197390465 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV000266368]|Leber congenital amaurosis [RCV001828286]|Pigmented paravenous retinochoroidal atrophy [RCV000320328]|Retinitis pigmentosa 12 [RCV001242513]|Retinitis pigmentosa [RCV000360994] Chr1:197427550 [GRCh38]
Chr1:197396680 [GRCh37]
Chr1:1q31.3
pathogenic|benign|uncertain significance
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV000320691]|Pigmented paravenous retinochoroidal atrophy [RCV000272687]|Retinitis pigmentosa 12 [RCV000964610]|Retinitis pigmentosa [RCV000377313] Chr1:197435558 [GRCh38]
Chr1:197404688 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met) single nucleotide variant Leber congenital amaurosis 8 [RCV000269228]|Pigmented paravenous retinochoroidal atrophy [RCV000383308]|Retinitis pigmentosa 12 [RCV000945327]|Retinitis pigmentosa [RCV000326351] Chr1:197435260 [GRCh38]
Chr1:197404390 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.*412T>C single nucleotide variant Leber congenital amaurosis 8 [RCV000346089]|Pigmented paravenous retinochoroidal atrophy [RCV000398820]|Retinitis pigmentosa [RCV000301746] Chr1:197478291 [GRCh38]
Chr1:197447421 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) single nucleotide variant Leber congenital amaurosis 8 [RCV000398025]|Leber congenital amaurosis [RCV001828287]|Pigmented paravenous retinochoroidal atrophy [RCV000289291]|Retinitis pigmentosa 12 [RCV000878020]|Retinitis pigmentosa [RCV000352667]|not provided [RCV001699429]|not specified [RCV000423844] Chr1:197427632 [GRCh38]
Chr1:197396762 [GRCh37]
Chr1:1q31.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201253.3(CRB1):c.*393T>C single nucleotide variant Leber congenital amaurosis 8 [RCV000288696]|Pigmented paravenous retinochoroidal atrophy [RCV000351854]|Retinitis pigmentosa [RCV000393295] Chr1:197478272 [GRCh38]
Chr1:197447402 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.2419C>T (p.Leu807=) single nucleotide variant Leber congenital amaurosis 8 [RCV000359746]|Pigmented paravenous retinochoroidal atrophy [RCV000391747]|Retinitis pigmentosa 12 [RCV000951208]|Retinitis pigmentosa [RCV000306210] Chr1:197427744 [GRCh38]
Chr1:197396874 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2010T>C (p.Cys670=) single nucleotide variant Leber congenital amaurosis 8 [RCV000293851]|Pigmented paravenous retinochoroidal atrophy [RCV000401010]|Retinitis pigmentosa 12 [RCV001435530]|Retinitis pigmentosa [RCV000348791] Chr1:197421838 [GRCh38]
Chr1:197390968 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.3038A>C (p.Gln1013Pro) single nucleotide variant not provided [RCV000270090] Chr1:197434901 [GRCh38]
Chr1:197404031 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr) single nucleotide variant CRB1-Related Disorders [RCV000778210]|Leber congenital amaurosis [RCV001275656]|Retinitis pigmentosa 12 [RCV001080703]|not provided [RCV000376545] Chr1:197429581 [GRCh38]
Chr1:197398711 [GRCh37]
Chr1:1q31.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201253.3(CRB1):c.*158G>T single nucleotide variant Leber congenital amaurosis 8 [RCV000282692]|Pigmented paravenous retinochoroidal atrophy [RCV000317890]|Retinitis pigmentosa [RCV000374587] Chr1:197478037 [GRCh38]
Chr1:197447167 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2863A>C (p.Asn955His) single nucleotide variant Leber congenital amaurosis 8 [RCV000342756]|Pigmented paravenous retinochoroidal atrophy [RCV000377446]|Retinitis pigmentosa [RCV000283014] Chr1:197434726 [GRCh38]
Chr1:197403856 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1699T>C (p.Trp567Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV003454802]|Pigmented paravenous retinochoroidal atrophy [RCV003454803]|Retinitis pigmentosa 12 [RCV002295297]|Retinitis pigmentosa 12 [RCV003454801]|not provided [RCV000285172] Chr1:197421527 [GRCh38]
Chr1:197390657 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) single nucleotide variant Leber congenital amaurosis 8 [RCV003454813]|Pigmented paravenous retinochoroidal atrophy [RCV003454814]|Retinitis pigmentosa 12 [RCV000878595]|Retinitis pigmentosa 12 [RCV003454812]|not specified [RCV000396570] Chr1:197421814 [GRCh38]
Chr1:197390944 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_201253.3(CRB1):c.3878+10A>G single nucleotide variant Retinitis pigmentosa 12 [RCV001395903]|not provided [RCV000325162] Chr1:197438685 [GRCh38]
Chr1:197407815 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) single nucleotide variant Leber congenital amaurosis [RCV001271898]|Retinitis pigmentosa 12 [RCV001083735]|not provided [RCV000398958] Chr1:197421298 [GRCh38]
Chr1:197390428 [GRCh37]
Chr1:1q31.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn) single nucleotide variant Leber congenital amaurosis 8 [RCV000266576]|Pigmented paravenous retinochoroidal atrophy [RCV000301560]|Retinitis pigmentosa 12 [RCV002519467]|Retinitis pigmentosa 12 [RCV003454862]|Retinitis pigmentosa [RCV000361206] Chr1:197328722 [GRCh38]
Chr1:197297852 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.799_800delinsA (p.Ala267fs) indel Leber congenital amaurosis 8 [RCV003454807]|Retinitis pigmentosa 12 [RCV001245164]|Retinitis pigmentosa 12 [RCV003454806]|not provided [RCV000399049] Chr1:197344427..197344428 [GRCh38]
Chr1:197313557..197313558 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2195G>C (p.Ser732Thr) single nucleotide variant Leber congenital amaurosis 8 [RCV003454825]|Pigmented paravenous retinochoroidal atrophy [RCV003454826]|Retinitis pigmentosa 12 [RCV002519329]|Retinitis pigmentosa 12 [RCV003454824]|not provided [RCV000333933] Chr1:197427520 [GRCh38]
Chr1:197396650 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys) single nucleotide variant Leber congenital amaurosis [RCV001828271]|Retinitis pigmentosa 12 [RCV001067120]|not provided [RCV000371225] Chr1:197427597 [GRCh38]
Chr1:197396727 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.3241T>C (p.Tyr1081His) single nucleotide variant not provided [RCV001566155] Chr1:197435104 [GRCh38]
Chr1:197404234 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3521G>C (p.Cys1174Ser) single nucleotide variant Leber congenital amaurosis [RCV001277524] Chr1:197435384 [GRCh38]
Chr1:197404514 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4165T>C (p.Ser1389Pro) single nucleotide variant Leber congenital amaurosis [RCV001277525] Chr1:197477823 [GRCh38]
Chr1:197446953 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.481G>A (p.Ala161Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV001072005]|Retinitis pigmentosa 12 [RCV001591128]|not provided [RCV000488223] Chr1:197328832 [GRCh38]
Chr1:197297962 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) single nucleotide variant Leber congenital amaurosis [RCV001199680]|not provided [RCV000488313] Chr1:197434949 [GRCh38]
Chr1:197404079 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.285G>C (p.Leu95=) single nucleotide variant Leber congenital amaurosis [RCV001277517]|Retinitis pigmentosa 12 [RCV001436642] Chr1:197328636 [GRCh38]
Chr1:197297766 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2826G>T (p.Val942=) single nucleotide variant Leber congenital amaurosis [RCV001277523]|Retinitis pigmentosa 12 [RCV001492300] Chr1:197429598 [GRCh38]
Chr1:197398728 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.3613G>A (p.Gly1205Arg) single nucleotide variant Leber congenital amaurosis [RCV001829403]|not provided [RCV000490135] Chr1:197435476 [GRCh38]
Chr1:197404606 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp) single nucleotide variant Leber congenital amaurosis 8 [RCV003449263]|Leber congenital amaurosis [RCV001834593]|Retinitis pigmentosa 12 [RCV001851320]|Retinitis pigmentosa 12 [RCV003449262]|not provided [RCV000488946] Chr1:197427826 [GRCh38]
Chr1:197396956 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1459T>C (p.Ser487Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV003314447] Chr1:197421287 [GRCh38]
Chr1:197390417 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.2(CRB1):c.-195G>A single nucleotide variant Leber congenital amaurosis 8 [RCV000348739]|Pigmented paravenous retinochoroidal atrophy [RCV000389181]|Retinitis pigmentosa [RCV000293780] Chr1:197268218 [GRCh38]
Chr1:197237348 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.*331_*337dup duplication Leber congenital amaurosis [RCV000387474]|Pigmented paravenous retinochoroidal atrophy [RCV000294584]|Retinitis Pigmentosa, Recessive [RCV000330680] Chr1:197478206..197478207 [GRCh38]
Chr1:197447336..197447337 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4005+4AGC[3] microsatellite Leber congenital amaurosis 8 [RCV003445847]|Leber congenital amaurosis [RCV000407841]|Pigmented paravenous retinochoroidal atrophy [RCV000363973]|Retinitis Pigmentosa, Recessive [RCV000307001]|Retinitis pigmentosa 12 [RCV000952239]|Retinitis pigmentosa 12 [RCV003445846] Chr1:197442295..197442296 [GRCh38]
Chr1:197411425..197411426 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_201253.3(CRB1):c.2917C>G (p.Leu973Val) single nucleotide variant Leber congenital amaurosis 8 [RCV000297577]|Pigmented paravenous retinochoroidal atrophy [RCV000401747]|Retinitis pigmentosa [RCV000336148] Chr1:197434780 [GRCh38]
Chr1:197403910 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu) single nucleotide variant Inborn genetic diseases [RCV002519469]|Leber congenital amaurosis 8 [RCV000398743]|Pigmented paravenous retinochoroidal atrophy [RCV000309182]|Retinitis pigmentosa 12 [RCV001850516]|Retinitis pigmentosa 12 [RCV003454865]|Retinitis pigmentosa [RCV000344256] Chr1:197427655 [GRCh38]
Chr1:197396785 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala) single nucleotide variant Leber congenital amaurosis 8 [RCV000390051]|Pigmented paravenous retinochoroidal atrophy [RCV000300952]|Pigmented paravenous retinochoroidal atrophy [RCV002480068]|Retinitis pigmentosa 12 [RCV002519470]|Retinitis pigmentosa 12 [RCV003454867]|Retinitis pigmentosa [RCV000367381] Chr1:197435065 [GRCh38]
Chr1:197404195 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3400G>C (p.Val1134Leu) single nucleotide variant not provided [RCV000593041] Chr1:197435263 [GRCh38]
Chr1:197404393 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp) single nucleotide variant Leber congenital amaurosis [RCV001828387]|Retinitis pigmentosa 12 [RCV001207041]|not specified [RCV000414607] Chr1:197477719 [GRCh38]
Chr1:197446849 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe) single nucleotide variant Inborn genetic diseases [RCV002521478]|Leber congenital amaurosis 8 [RCV001563884]|Leber congenital amaurosis [RCV001828390]|Pigmented paravenous retinochoroidal atrophy [RCV001270085]|Retinitis pigmentosa 12 [RCV001242512]|Retinitis pigmentosa 12 [RCV001563885]|not provided [RCV000415891] Chr1:197429518 [GRCh38]
Chr1:197398648 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) single nucleotide variant Cone-rod dystrophy [RCV001199671]|not provided [RCV000416024] Chr1:197421678 [GRCh38]
Chr1:197390808 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) single nucleotide variant Leber congenital amaurosis 1 [RCV000986491]|Leber congenital amaurosis 8 [RCV003475999]|Pigmented paravenous retinochoroidal atrophy [RCV003137989]|Retinal dystrophy [RCV001073689]|Retinitis pigmentosa 12 [RCV001064315]|Retinitis pigmentosa 12 [RCV001376383]|not provided [RCV001810876]|not specified [RCV000414087] Chr1:197427831 [GRCh38]
Chr1:197396961 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44
pathogenic
NM_201253.3(CRB1):c.3542dup (p.Cys1181fs) duplication Leber congenital amaurosis 8 [RCV003476199]|Retinal dystrophy [RCV000504784]|Retinitis pigmentosa 12 [RCV001865636] Chr1:197435404..197435405 [GRCh38]
Chr1:197404534..197404535 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) single nucleotide variant Retinal dystrophy [RCV000504850]|Retinitis pigmentosa 12 [RCV002524407] Chr1:197421540 [GRCh38]
Chr1:197390670 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val) single nucleotide variant Leber congenital amaurosis 8 [RCV003449434]|Leber congenital amaurosis [RCV001275649]|Pigmented paravenous retinochoroidal atrophy [RCV003449435]|Retinal dystrophy [RCV000504865]|Retinitis pigmentosa 12 [RCV001053730]|Retinitis pigmentosa 12 [RCV003449433]|not provided [RCV001783005] Chr1:197427454 [GRCh38]
Chr1:197396584 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV003476198]|Leber congenital amaurosis [RCV001834627]|Retinitis pigmentosa 12 [RCV001067848]|Retinitis pigmentosa 12 [RCV001376401]|Retinitis pigmentosa [RCV000504944] Chr1:197427964 [GRCh38]
Chr1:197397094 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2842+5G>A single nucleotide variant Leber congenital amaurosis 8 [RCV001250645]|Retinal dystrophy [RCV000504958]|Retinitis pigmentosa 12 [RCV001857211]|Retinitis pigmentosa 12 [RCV003446102]|not provided [RCV001310547] Chr1:197429619 [GRCh38]
Chr1:197398749 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003449439]|Leber congenital amaurosis [RCV001275659]|Pigmented paravenous retinochoroidal atrophy [RCV003449440]|Retinitis pigmentosa 12 [RCV001064730]|Retinitis pigmentosa 12 [RCV003228798]|Retinitis pigmentosa [RCV000504976] Chr1:197435539 [GRCh38]
Chr1:197404669 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1183G>T (p.Glu395Ter) single nucleotide variant CRB1-Related Disorders [RCV000778209]|Leber congenital amaurosis 8 [RCV003476197]|Leber congenital amaurosis [RCV000505025]|Retinal dystrophy [RCV001074835]|Retinitis pigmentosa 12 [RCV001390794] Chr1:197421011 [GRCh38]
Chr1:197390141 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2220dup (p.Met741fs) duplication Leber congenital amaurosis [RCV000505054] Chr1:197427543..197427544 [GRCh38]
Chr1:197396673..197396674 [GRCh37]
Chr1:1q31.3
likely pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)x1 copy number loss See cases [RCV000445748] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_201253.3(CRB1):c.3988del (p.Glu1330fs) deletion Leber congenital amaurosis 8 [RCV001250620]|Leber congenital amaurosis [RCV001275660]|Pigmented paravenous retinochoroidal atrophy [RCV003449044]|Retinal dystrophy [RCV001074124]|Retinitis pigmentosa 12 [RCV001048729]|Retinitis pigmentosa 12 [RCV003449043]|not provided [RCV000427684] Chr1:197442275 [GRCh38]
Chr1:197411405 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr) single nucleotide variant Retinitis pigmentosa [RCV000504659] Chr1:197421501 [GRCh38]
Chr1:197390631 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.254G>A (p.Cys85Tyr) single nucleotide variant Retinal dystrophy [RCV000504692] Chr1:197328605 [GRCh38]
Chr1:197297735 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) single nucleotide variant Leber congenital amaurosis 8 [RCV003449437]|Leber congenital amaurosis [RCV001834628]|Pigmented paravenous retinochoroidal atrophy [RCV002481631]|Pigmented paravenous retinochoroidal atrophy [RCV003449438]|Retinitis pigmentosa 12 [RCV001224385]|Retinitis pigmentosa 12 [RCV003449436]|Retinitis pigmentosa [RCV000504704] Chr1:197429611 [GRCh38]
Chr1:197398741 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu) single nucleotide variant Retinitis pigmentosa [RCV000504745] Chr1:197421845 [GRCh38]
Chr1:197390975 [GRCh37]
Chr1:1q31.3
likely pathogenic
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)x1 copy number loss See cases [RCV000448809] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter) microsatellite Leber congenital amaurosis 8 [RCV003449183]|Leber congenital amaurosis [RCV001833607]|Retinitis pigmentosa 12 [RCV001856828]|Retinitis pigmentosa 12 [RCV003449182]|not provided [RCV000481076] Chr1:197328603..197328604 [GRCh38]
Chr1:197297733..197297734 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val) single nucleotide variant Leber congenital amaurosis 8 [RCV003449242]|Leber congenital amaurosis [RCV001828510]|Pigmented paravenous retinochoroidal atrophy [RCV003449243]|Retinitis pigmentosa 12 [RCV001242630]|Retinitis pigmentosa 12 [RCV003449241]|not provided [RCV000480538] Chr1:197477688 [GRCh38]
Chr1:197446818 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1 copy number loss See cases [RCV000512128] Chr1:179011314..199022759 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) single nucleotide variant Intellectual disability [RCV001252198]|Leber congenital amaurosis 8 [RCV003449162]|Leber congenital amaurosis [RCV001275643]|Pigmented paravenous retinochoroidal atrophy [RCV003449163]|Retinitis pigmentosa 12 [RCV001247776]|Retinitis pigmentosa 12 [RCV003449161]|Retinitis pigmentosa [RCV000787828]|not provided [RCV000487047] Chr1:197328486 [GRCh38]
Chr1:197297616 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
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 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_201253.3(CRB1):c.2560G>C (p.Asp854His) single nucleotide variant not provided [RCV000585591] Chr1:197427885 [GRCh38]
Chr1:197397015 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1889T>C (p.Phe630Ser) single nucleotide variant Inborn genetic diseases [RCV003277821] Chr1:197421717 [GRCh38]
Chr1:197390847 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1192G>A (p.Val398Ile) single nucleotide variant Leber congenital amaurosis 8 [RCV001101002]|Pigmented paravenous retinochoroidal atrophy [RCV001101001]|Retinitis pigmentosa 12 [RCV002063186]|Retinitis pigmentosa [RCV001101000]|not specified [RCV000608690] Chr1:197421020 [GRCh38]
Chr1:197390150 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.1431del (p.Ser478fs) deletion Leber congenital amaurosis 8 [RCV003449466]|Leber congenital amaurosis [RCV001275647]|Macular dystrophy [RCV000656136]|Pigmented paravenous retinochoroidal atrophy [RCV003449467]|Retinitis pigmentosa 12 [RCV001057046]|Retinitis pigmentosa 12 [RCV003449465] Chr1:197421257 [GRCh38]
Chr1:197390387 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro) single nucleotide variant Leber congenital amaurosis 8 [RCV000625947] Chr1:197427714 [GRCh38]
Chr1:197396844 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1914G>T (p.Ser638=) single nucleotide variant Retinitis pigmentosa 12 [RCV001482580]|not provided [RCV000512803] Chr1:197421742 [GRCh38]
Chr1:197390872 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala) single nucleotide variant Leber congenital amaurosis 8 [RCV003449457]|Leber congenital amaurosis [RCV001829454]|Pigmented paravenous retinochoroidal atrophy [RCV002481648]|Pigmented paravenous retinochoroidal atrophy [RCV003449458]|Retinitis pigmentosa 12 [RCV001352570]|Retinitis pigmentosa 12 [RCV003449456]|not provided [RCV000513138] Chr1:197421254 [GRCh38]
Chr1:197390384 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3062T>C (p.Leu1021Pro) single nucleotide variant Retinitis pigmentosa [RCV001199675]|not provided [RCV000513509] Chr1:197434925 [GRCh38]
Chr1:197404055 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.4141C>A (p.Pro1381Thr) single nucleotide variant Macular dystrophy [RCV000656135] Chr1:197477799 [GRCh38]
Chr1:197446929 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4161G>A (p.Glu1387=) single nucleotide variant Retinitis pigmentosa 12 [RCV003790944] Chr1:197477819 [GRCh38]
Chr1:197446949 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.29T>C (p.Leu10Pro) single nucleotide variant Leber congenital amaurosis 8 [RCV001526747]|Retinitis pigmentosa 12 [RCV001477776]|not provided [RCV000658537] Chr1:197268441 [GRCh38]
Chr1:197237571 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.849-26A>G single nucleotide variant Stargardt disease [RCV000678551] Chr1:197347314 [GRCh38]
Chr1:197316444 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q31.3(chr1:195089818-197443021)x1 copy number loss not provided [RCV000684683] Chr1:195089818..197443021 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2405C>T (p.Pro802Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV000701115] Chr1:197427730 [GRCh38]
Chr1:197396860 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2548G>A (p.Gly850Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV003472183]|Retinitis pigmentosa 12 [RCV000684930]|Retinitis pigmentosa 12 [RCV001542641] Chr1:197427873 [GRCh38]
Chr1:197397003 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2680_2684del (p.Asn894fs) deletion Leber congenital amaurosis [RCV001002997] Chr1:197429450..197429454 [GRCh38]
Chr1:197398580..197398584 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) single nucleotide variant Leber congenital amaurosis 8 [RCV003455046]|Retinitis pigmentosa 12 [RCV001860526]|Retinitis pigmentosa 12 [RCV003455045]|Retinitis pigmentosa [RCV001002993]|not provided [RCV001593178] Chr1:197421672 [GRCh38]
Chr1:197390802 [GRCh37]
Chr1:1q31.3
pathogenic|likely 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_201253.3(CRB1):c.4039del (p.Thr1347fs) deletion Leber congenital amaurosis 8 [RCV000754591]|Retinitis pigmentosa 12 [RCV001211342]|Retinitis pigmentosa 12 [RCV003453517] Chr1:197477697 [GRCh38]
Chr1:197446827 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.410del (p.Pro137fs) deletion Leber congenital amaurosis 8 [RCV000754592] Chr1:197328759 [GRCh38]
Chr1:197297889 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.70+1G>A single nucleotide variant Leber congenital amaurosis 8 [RCV000754593] Chr1:197268483 [GRCh38]
Chr1:197237613 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV000754594] Chr1:197421900 [GRCh38]
Chr1:197391030 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2798G>A (p.Cys933Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV000754590]|Retinitis pigmentosa 12 [RCV002532969] Chr1:197429570 [GRCh38]
Chr1:197398700 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41
pathogenic
NM_201253.3(CRB1):c.162T>C (p.Cys54=) single nucleotide variant Retinitis pigmentosa 12 [RCV000977075] Chr1:197328513 [GRCh38]
Chr1:197297643 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.222C>G (p.Cys74Trp) single nucleotide variant Retinitis pigmentosa 12 [RCV002227537]|Retinitis pigmentosa [RCV001724858] Chr1:197328573 [GRCh38]
Chr1:197297703 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1229G>A (p.Gly410Asp) single nucleotide variant Retinal dystrophy [RCV001591929] Chr1:197421057 [GRCh38]
Chr1:197390187 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.848+133A>G single nucleotide variant not provided [RCV001725262] Chr1:197344609 [GRCh38]
Chr1:197313739 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.1863C>T (p.Thr621=) single nucleotide variant Retinitis pigmentosa 12 [RCV001405622] Chr1:197421691 [GRCh38]
Chr1:197390821 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3114C>T (p.Thr1038=) single nucleotide variant Retinitis pigmentosa 12 [RCV001436869] Chr1:197434977 [GRCh38]
Chr1:197404107 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2489T>A (p.Ile830Asn) single nucleotide variant Leber congenital amaurosis 8 [RCV001580677]|Pigmented paravenous retinochoroidal atrophy [RCV001580678]|Retinitis pigmentosa 12 [RCV001580676] Chr1:197427814 [GRCh38]
Chr1:197396944 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.70+1G>T single nucleotide variant Leber congenital amaurosis 8 [RCV001580687]|Retinitis pigmentosa 12 [RCV001580686] Chr1:197268483 [GRCh38]
Chr1:197237613 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1995T>C (p.Asn665=) single nucleotide variant Leber congenital amaurosis 8 [RCV003454965]|Leber congenital amaurosis [RCV001826993]|Pigmented paravenous retinochoroidal atrophy [RCV003454966]|Retinitis pigmentosa 12 [RCV000941627]|Retinitis pigmentosa 12 [RCV003454964]|not specified [RCV001000420] Chr1:197421823 [GRCh38]
Chr1:197390953 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-144A>G single nucleotide variant not provided [RCV001667950] Chr1:197328278 [GRCh38]
Chr1:197297408 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.713C>A (p.Thr238Asn) single nucleotide variant Leber congenital amaurosis 8 [RCV003453578]|Pigmented paravenous retinochoroidal atrophy [RCV003453579]|Retinitis pigmentosa 12 [RCV001855706]|Retinitis pigmentosa 12 [RCV003453577]|not provided [RCV000761689] Chr1:197344341 [GRCh38]
Chr1:197313471 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1084C>T (p.Gln362Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250592]|Retinitis pigmentosa 12 [RCV001236260]|Retinitis pigmentosa 12 [RCV003453569]|not provided [RCV000760354] Chr1:197356926 [GRCh38]
Chr1:197326056 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1147T>C (p.Cys383Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV001004994] Chr1:197356989 [GRCh38]
Chr1:197326119 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.529G>C (p.Gly177Arg) single nucleotide variant not provided [RCV000994214] Chr1:197328880 [GRCh38]
Chr1:197298010 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3791C>A (p.Thr1264Lys) single nucleotide variant not provided [RCV000994220] Chr1:197438588 [GRCh38]
Chr1:197407718 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2054G>T (p.Gly685Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001044718] Chr1:197421882 [GRCh38]
Chr1:197391012 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile) single nucleotide variant Leber congenital amaurosis [RCV001825490]|Retinitis pigmentosa 12 [RCV001049610]|not provided [RCV000755992] Chr1:197421120 [GRCh38]
Chr1:197390250 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) single nucleotide variant Leber congenital amaurosis 8 [RCV003472323]|Retinitis pigmentosa 12 [RCV001869189]|Retinitis pigmentosa [RCV000787580] Chr1:197434984 [GRCh38]
Chr1:197404114 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.4154A>G (p.Glu1385Gly) single nucleotide variant Leber congenital amaurosis [RCV000787582] Chr1:197477812 [GRCh38]
Chr1:197446942 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter) single nucleotide variant Retinitis pigmentosa [RCV000787827] Chr1:197421721 [GRCh38]
Chr1:197390851 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.989-111C>G single nucleotide variant not provided [RCV001690756] Chr1:197356720 [GRCh38]
Chr1:197325850 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del) deletion Leber congenital amaurosis 1 [RCV000986481] Chr1:197328640..197328645 [GRCh38]
Chr1:197297770..197297775 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly) single nucleotide variant Leber congenital amaurosis 1 [RCV000986497]|Leber congenital amaurosis 8 [RCV003455005]|Pigmented paravenous retinochoroidal atrophy [RCV002489456]|Pigmented paravenous retinochoroidal atrophy [RCV003455006]|Retinitis pigmentosa 12 [RCV001809876] Chr1:197442248 [GRCh38]
Chr1:197411378 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3195A>G (p.Thr1065=) single nucleotide variant Retinitis pigmentosa 12 [RCV000981609] Chr1:197435058 [GRCh38]
Chr1:197404188 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1572T>C (p.Leu524=) single nucleotide variant Retinitis pigmentosa 12 [RCV001502404] Chr1:197421400 [GRCh38]
Chr1:197390530 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.591C>T (p.Asn197=) single nucleotide variant Retinitis pigmentosa 12 [RCV000925635] Chr1:197328942 [GRCh38]
Chr1:197298072 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-8C>T single nucleotide variant not provided [RCV000950371] Chr1:197328414 [GRCh38]
Chr1:197297544 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-7C>T single nucleotide variant not provided [RCV000950372] Chr1:197328415 [GRCh38]
Chr1:197297545 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2040T>C (p.Pro680=) single nucleotide variant Retinitis pigmentosa 12 [RCV000902832] Chr1:197421868 [GRCh38]
Chr1:197390998 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) single nucleotide variant Leber congenital amaurosis [RCV001275658]|Retinitis pigmentosa 12 [RCV000878799] Chr1:197435121 [GRCh38]
Chr1:197404251 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.2976A>G (p.Ala992=) single nucleotide variant Leber congenital amaurosis 8 [RCV001099307]|Leber congenital amaurosis [RCV001271902]|Pigmented paravenous retinochoroidal atrophy [RCV001099306]|Retinitis pigmentosa 12 [RCV000951452]|Retinitis pigmentosa [RCV001099308] Chr1:197434839 [GRCh38]
Chr1:197403969 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.1827G>A (p.Gln609=) single nucleotide variant Retinitis pigmentosa 12 [RCV001445796] Chr1:197421655 [GRCh38]
Chr1:197390785 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1803T>C (p.Ser601=) single nucleotide variant Retinitis pigmentosa 12 [RCV001430623] Chr1:197421631 [GRCh38]
Chr1:197390761 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.393T>C (p.Tyr131=) single nucleotide variant Retinitis pigmentosa 12 [RCV000982706] Chr1:197328744 [GRCh38]
Chr1:197297874 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala) single nucleotide variant Leber congenital amaurosis 8 [RCV003454971]|Leber congenital amaurosis [RCV001832187]|Pigmented paravenous retinochoroidal atrophy [RCV003454972]|Retinitis pigmentosa 12 [RCV000945379]|Retinitis pigmentosa 12 [RCV003454970]|not provided [RCV003413745] Chr1:197356917 [GRCh38]
Chr1:197326047 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_201253.3(CRB1):c.1116T>C (p.Ser372=) single nucleotide variant Retinitis pigmentosa 12 [RCV001403781] Chr1:197356958 [GRCh38]
Chr1:197326088 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.825G>A (p.Gly275=) single nucleotide variant Leber congenital amaurosis [RCV001271895]|Retinitis pigmentosa 12 [RCV001444867] Chr1:197344453 [GRCh38]
Chr1:197313583 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.1479C>T (p.Phe493=) single nucleotide variant Leber congenital amaurosis [RCV001277520]|Retinitis pigmentosa 12 [RCV000882439] Chr1:197421307 [GRCh38]
Chr1:197390437 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_201253.3(CRB1):c.3552C>T (p.Asn1184=) single nucleotide variant not provided [RCV000920612] Chr1:197435415 [GRCh38]
Chr1:197404545 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2358T>C (p.Phe786=) single nucleotide variant Retinitis pigmentosa 12 [RCV001422553] Chr1:197427683 [GRCh38]
Chr1:197396813 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=) single nucleotide variant Leber congenital amaurosis [RCV001271904]|Retinitis pigmentosa 12 [RCV000944354] Chr1:197434905 [GRCh38]
Chr1:197404035 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1428C>G (p.Thr476=) single nucleotide variant Leber congenital amaurosis [RCV001275646]|Retinitis pigmentosa 12 [RCV001451608] Chr1:197421256 [GRCh38]
Chr1:197390386 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2979A>G (p.Glu993=) single nucleotide variant Retinitis pigmentosa 12 [RCV001436738] Chr1:197434842 [GRCh38]
Chr1:197403972 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1431G>A (p.Gly477=) single nucleotide variant Leber congenital amaurosis [RCV001271897]|Retinitis pigmentosa 12 [RCV000976724] Chr1:197421259 [GRCh38]
Chr1:197390389 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.156T>C (p.Asn52=) single nucleotide variant Leber congenital amaurosis [RCV001271891]|Retinitis pigmentosa 12 [RCV000945688] Chr1:197328507 [GRCh38]
Chr1:197297637 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.1206T>C (p.Ser402=) single nucleotide variant Leber congenital amaurosis 8 [RCV003454984]|Leber congenital amaurosis [RCV001836051]|Pigmented paravenous retinochoroidal atrophy [RCV002489447]|Pigmented paravenous retinochoroidal atrophy [RCV003454985]|Retinitis pigmentosa 12 [RCV000981270]|Retinitis pigmentosa 12 [RCV003454983] Chr1:197421034 [GRCh38]
Chr1:197390164 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys) single nucleotide variant Leber congenital amaurosis 8 [RCV003454925]|Leber congenital amaurosis [RCV001271903]|Pigmented paravenous retinochoroidal atrophy [RCV002501354]|Pigmented paravenous retinochoroidal atrophy [RCV003454926]|Retinitis pigmentosa 12 [RCV000878361]|Retinitis pigmentosa 12 [RCV003454924] Chr1:197434840 [GRCh38]
Chr1:197403970 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.1332C>T (p.Gly444=) single nucleotide variant Retinitis pigmentosa 12 [RCV000983741] Chr1:197421160 [GRCh38]
Chr1:197390290 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1182C>T (p.Cys394=) single nucleotide variant Retinitis pigmentosa 12 [RCV000950308] Chr1:197421010 [GRCh38]
Chr1:197390140 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2092T>C (p.Cys698Arg) single nucleotide variant Retinal dystrophy [RCV001075293] Chr1:197421920 [GRCh38]
Chr1:197391050 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3239T>C (p.Ile1080Thr) single nucleotide variant Retinal dystrophy [RCV001075296] Chr1:197435102 [GRCh38]
Chr1:197404232 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3488G>T (p.Cys1163Phe) single nucleotide variant Leber congenital amaurosis 8 [RCV003473638]|Retinitis pigmentosa 12 [RCV001049160] Chr1:197435351 [GRCh38]
Chr1:197404481 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2834G>A (p.Gly945Glu) single nucleotide variant Retinal dystrophy [RCV001075664] Chr1:197429606 [GRCh38]
Chr1:197398736 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3101G>A (p.Trp1034Ter) single nucleotide variant Retinal dystrophy [RCV001075831] Chr1:197434964 [GRCh38]
Chr1:197404094 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.201_202del (p.Cys67_Asp68delinsTer) microsatellite Retinal dystrophy [RCV001075846] Chr1:197328550..197328551 [GRCh38]
Chr1:197297680..197297681 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2306G>C (p.Arg769Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV001052934] Chr1:197427631 [GRCh38]
Chr1:197396761 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu) single nucleotide variant Leber congenital amaurosis [RCV001832503]|Retinitis pigmentosa 12 [RCV001055459] Chr1:197344467 [GRCh38]
Chr1:197313597 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.481del (p.Ala161fs) deletion Retinitis pigmentosa 12 [RCV001062456] Chr1:197328829 [GRCh38]
Chr1:197297959 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.490C>T (p.Gln164Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001055799] Chr1:197328841 [GRCh38]
Chr1:197297971 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3329T>G (p.Phe1110Cys) single nucleotide variant Retinitis pigmentosa 12 [RCV001058927] Chr1:197435192 [GRCh38]
Chr1:197404322 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.995_996del (p.Thr332fs) microsatellite Leber congenital amaurosis 8 [RCV003473626]|Retinitis pigmentosa 12 [RCV001042872] Chr1:197356834..197356835 [GRCh38]
Chr1:197325964..197325965 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1110_1111delinsGC (p.Ser371Pro) indel Leber congenital amaurosis 8 [RCV003455336]|Pigmented paravenous retinochoroidal atrophy [RCV003455337]|Retinal dystrophy [RCV001073894]|Retinitis pigmentosa 12 [RCV002554688]|Retinitis pigmentosa 12 [RCV003455335] Chr1:197356952..197356953 [GRCh38]
Chr1:197326082..197326083 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1181G>A (p.Cys394Tyr) single nucleotide variant Retinal dystrophy [RCV001074018] Chr1:197421009 [GRCh38]
Chr1:197390139 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2497G>C (p.Gly833Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV003455344]|Pigmented paravenous retinochoroidal atrophy [RCV003455345]|Retinal dystrophy [RCV001074122]|Retinitis pigmentosa 12 [RCV002554698]|Retinitis pigmentosa 12 [RCV003455343] Chr1:197427822 [GRCh38]
Chr1:197396952 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer) microsatellite Leber congenital amaurosis 8 [RCV003455195]|Leber congenital amaurosis [RCV001832444]|Retinitis pigmentosa 12 [RCV001047221]|Retinitis pigmentosa 12 [RCV003455194]|not provided [RCV003145286] Chr1:197344289..197344290 [GRCh38]
Chr1:197313419..197313420 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV001101296]|Pigmented paravenous retinochoroidal atrophy [RCV001101294]|Retinal dystrophy [RCV001074160]|Retinitis pigmentosa 12 [RCV003455346]|Retinitis pigmentosa [RCV001101295] Chr1:197434966 [GRCh38]
Chr1:197404096 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3880T>C (p.Cys1294Arg) single nucleotide variant Retinal dystrophy [RCV001074161] Chr1:197442167 [GRCh38]
Chr1:197411297 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3100T>C (p.Trp1034Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV003455356]|Pigmented paravenous retinochoroidal atrophy [RCV003455357]|Retinal dystrophy [RCV001074315]|Retinitis pigmentosa 12 [RCV001228192]|Retinitis pigmentosa 12 [RCV003455355] Chr1:197434963 [GRCh38]
Chr1:197404093 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.506del (p.Gly169fs) deletion Leber congenital amaurosis 8 [RCV001250582]|Pigmented paravenous retinochoroidal atrophy [RCV002497490]|Pigmented paravenous retinochoroidal atrophy [RCV003455359]|Retinal dystrophy [RCV001074317]|Retinitis pigmentosa 12 [RCV001862552]|Retinitis pigmentosa 12 [RCV003455358]|not provided [RCV001091028] Chr1:197328856 [GRCh38]
Chr1:197297986 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3809A>G (p.Asn1270Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV003455364]|Pigmented paravenous retinochoroidal atrophy [RCV003455365]|Retinal dystrophy [RCV001074442]|Retinitis pigmentosa 12 [RCV002554717]|Retinitis pigmentosa 12 [RCV003455363] Chr1:197438606 [GRCh38]
Chr1:197407736 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His) single nucleotide variant Inborn genetic diseases [RCV002551413]|Leber congenital amaurosis 8 [RCV003455158]|Leber congenital amaurosis [RCV001827228]|Pigmented paravenous retinochoroidal atrophy [RCV003455159]|Retinitis pigmentosa 12 [RCV001038335]|Retinitis pigmentosa 12 [RCV003455157] Chr1:197435590 [GRCh38]
Chr1:197404720 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.872G>A (p.Ser291Asn) single nucleotide variant Retinal dystrophy [RCV001074475] Chr1:197347363 [GRCh38]
Chr1:197316493 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3506G>A (p.Trp1169Ter) single nucleotide variant Retinal dystrophy [RCV001074584] Chr1:197435369 [GRCh38]
Chr1:197404499 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2632C>T (p.Leu878Phe) single nucleotide variant Retinal dystrophy [RCV001074588] Chr1:197427957 [GRCh38]
Chr1:197397087 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.697T>C (p.Cys233Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001057628] Chr1:197344325 [GRCh38]
Chr1:197313455 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.653-1G>T single nucleotide variant Leber congenital amaurosis 8 [RCV003446610]|Pigmented paravenous retinochoroidal atrophy [RCV003446611]|Retinal dystrophy [RCV001074781]|Retinitis pigmentosa 12 [RCV001593255]|Retinitis pigmentosa 12 [RCV001862575] Chr1:197344280 [GRCh38]
Chr1:197313410 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.914G>C (p.Cys305Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV003455376]|Pigmented paravenous retinochoroidal atrophy [RCV003455377]|Retinal dystrophy [RCV001074782]|Retinitis pigmentosa 12 [RCV001246507]|Retinitis pigmentosa 12 [RCV003455375] Chr1:197347405 [GRCh38]
Chr1:197316535 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1640A>C (p.Gln547Pro) single nucleotide variant Retinal dystrophy [RCV001074783] Chr1:197421468 [GRCh38]
Chr1:197390598 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.71del (p.Asn24fs) deletion Retinal dystrophy [RCV001074952]|Retinitis pigmentosa 12 [RCV001862586] Chr1:197268478 [GRCh38]
Chr1:197237608 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2521A>C (p.Thr841Pro) single nucleotide variant Retinal dystrophy [RCV001074954] Chr1:197427846 [GRCh38]
Chr1:197396976 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3653G>T (p.Cys1218Phe) single nucleotide variant Leber congenital amaurosis 8 [RCV003455406]|Pigmented paravenous retinochoroidal atrophy [RCV003455407]|Retinal dystrophy [RCV001075199]|Retinitis pigmentosa 12 [RCV001862600]|Retinitis pigmentosa 12 [RCV003455405] Chr1:197435516 [GRCh38]
Chr1:197404646 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3080del (p.Gln1027fs) deletion CRB1-Related Disorders [RCV000778212] Chr1:197434943 [GRCh38]
Chr1:197404073 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2129-8C>T single nucleotide variant Retinitis pigmentosa 12 [RCV000979404] Chr1:197427446 [GRCh38]
Chr1:197396576 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3120C>T (p.Ser1040=) single nucleotide variant Retinitis pigmentosa 12 [RCV000982652] Chr1:197434983 [GRCh38]
Chr1:197404113 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1122C>T (p.Ser374=) single nucleotide variant Retinitis pigmentosa 12 [RCV001505090] Chr1:197356964 [GRCh38]
Chr1:197326094 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1014C>A (p.Ile338=) single nucleotide variant Leber congenital amaurosis 8 [RCV003454944]|Leber congenital amaurosis [RCV001271896]|Pigmented paravenous retinochoroidal atrophy [RCV003454945]|Retinitis pigmentosa 12 [RCV000908893]|Retinitis pigmentosa 12 [RCV003454943]|not specified [RCV001000422] Chr1:197356856 [GRCh38]
Chr1:197325986 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2569C>T (p.Leu857=) single nucleotide variant Retinitis pigmentosa 12 [RCV001410956] Chr1:197427894 [GRCh38]
Chr1:197397024 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2901G>T (p.Gly967=) single nucleotide variant Leber congenital amaurosis [RCV001271901]|Retinitis pigmentosa 12 [RCV000944269] Chr1:197434764 [GRCh38]
Chr1:197403894 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.71-4G>T single nucleotide variant not provided [RCV000950373] Chr1:197328418 [GRCh38]
Chr1:197297548 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.747C>T (p.Asp249=) single nucleotide variant Retinitis pigmentosa 12 [RCV000980200] Chr1:197344375 [GRCh38]
Chr1:197313505 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.969C>T (p.Tyr323=) single nucleotide variant Retinitis pigmentosa 12 [RCV001433699] Chr1:197347460 [GRCh38]
Chr1:197316590 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1539G>A (p.Arg513=) single nucleotide variant Retinitis pigmentosa 12 [RCV001460512] Chr1:197421367 [GRCh38]
Chr1:197390497 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1977G>A (p.Ser659=) single nucleotide variant Leber congenital amaurosis [RCV001825782]|Retinitis pigmentosa 12 [RCV001472819] Chr1:197421805 [GRCh38]
Chr1:197390935 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.603C>T (p.Cys201=) single nucleotide variant Retinitis pigmentosa 12 [RCV001429259] Chr1:197328954 [GRCh38]
Chr1:197298084 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2129-7A>T single nucleotide variant Retinitis pigmentosa 12 [RCV001494867] Chr1:197427447 [GRCh38]
Chr1:197396577 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2538A>T (p.Gly846=) single nucleotide variant Leber congenital amaurosis [RCV001271899]|Retinitis pigmentosa 12 [RCV000927573] Chr1:197427863 [GRCh38]
Chr1:197396993 [GRCh37]
Chr1:1q31.3
benign|uncertain significance
NM_201253.3(CRB1):c.1014C>T (p.Ile338=) single nucleotide variant Leber congenital amaurosis [RCV001832155]|Retinitis pigmentosa 12 [RCV001398017] Chr1:197356856 [GRCh38]
Chr1:197325986 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) single nucleotide variant Leber congenital amaurosis 8 [RCV001100639]|Pigmented paravenous retinochoroidal atrophy [RCV001100910]|Retinitis pigmentosa 12 [RCV000964696]|Retinitis pigmentosa [RCV001100909] Chr1:197328512 [GRCh38]
Chr1:197297642 [GRCh37]
Chr1:1q31.3
benign|uncertain significance
NM_201253.3(CRB1):c.3306C>T (p.Ile1102=) single nucleotide variant Leber congenital amaurosis [RCV001271905]|Retinitis pigmentosa 12 [RCV000964747] Chr1:197435169 [GRCh38]
Chr1:197404299 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) single nucleotide variant CRB1-Related Disorders [RCV000778957]|Leber congenital amaurosis [RCV001825517]|Retinal dystrophy [RCV001073728]|Retinitis pigmentosa 12 [RCV001201620]|not specified [RCV003323720] Chr1:197442284 [GRCh38]
Chr1:197411414 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.1452C>T (p.Thr484=) single nucleotide variant Leber congenital amaurosis [RCV001826978]|Retinitis pigmentosa 12 [RCV000938108] Chr1:197421280 [GRCh38]
Chr1:197390410 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3916_3921del (p.Cys1306_Val1307del) deletion Retinitis pigmentosa [RCV000787581] Chr1:197442203..197442208 [GRCh38]
Chr1:197411333..197411338 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2425C>T (p.Gln809Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV000801518] Chr1:197427750 [GRCh38]
Chr1:197396880 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs) insertion Leber congenital amaurosis 1 [RCV000986478] Chr1:197328626..197328627 [GRCh38]
Chr1:197297756..197297757 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr) single nucleotide variant Leber congenital amaurosis 1 [RCV000986480] Chr1:197328638 [GRCh38]
Chr1:197297768 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser) single nucleotide variant Leber congenital amaurosis 1 [RCV000986490] Chr1:197421671 [GRCh38]
Chr1:197390801 [GRCh37]
Chr1:1q31.3
likely pathogenic
NC_000001.11:g.(?_197268194)_(197268492_?)del deletion Retinitis pigmentosa 12 [RCV000800670] Chr1:197268194..197268492 [GRCh38]
Chr1:197237324..197237622 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2327C>A (p.Thr776Asn) single nucleotide variant not provided [RCV000994216] Chr1:197427652 [GRCh38]
Chr1:197396782 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV003455016]|Retinitis pigmentosa [RCV001199673]|not provided [RCV000994218] Chr1:197429459 [GRCh38]
Chr1:197398589 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.441_444del (p.Asp148fs) microsatellite Leber congenital amaurosis 8 [RCV003473508]|Retinitis pigmentosa 12 [RCV000820670] Chr1:197328788..197328791 [GRCh38]
Chr1:197297918..197297921 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44
pathogenic
NM_201253.3(CRB1):c.508T>C (p.Tyr170His) single nucleotide variant Retinitis pigmentosa [RCV000787746] Chr1:197328859 [GRCh38]
Chr1:197297989 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.*261A>G single nucleotide variant Leber congenital amaurosis 8 [RCV001097736]|Pigmented paravenous retinochoroidal atrophy [RCV001097735]|Retinitis pigmentosa [RCV001095949] Chr1:197478140 [GRCh38]
Chr1:197447270 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.411T>C (p.Pro137=) single nucleotide variant Leber congenital amaurosis 8 [RCV001097179]|Pigmented paravenous retinochoroidal atrophy [RCV001097177]|Retinitis pigmentosa [RCV001097178] Chr1:197328762 [GRCh38]
Chr1:197297892 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1305A>T (p.Gly435=) single nucleotide variant Leber congenital amaurosis 8 [RCV003455291]|Pigmented paravenous retinochoroidal atrophy [RCV003455292]|Retinitis pigmentosa 12 [RCV001066973]|Retinitis pigmentosa 12 [RCV003455290]|not provided [RCV001619883] Chr1:197421133 [GRCh38]
Chr1:197390263 [GRCh37]
Chr1:1q31.3
benign|likely benign|uncertain significance
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) single nucleotide variant Leber congenital amaurosis 8 [RCV001097350]|Leber congenital amaurosis [RCV001828549]|Pigmented paravenous retinochoroidal atrophy [RCV001097351]|Retinitis pigmentosa 12 [RCV001234545]|Retinitis pigmentosa 12 [RCV003455452]|Retinitis pigmentosa [RCV001097349]|not provided [RCV001700696] Chr1:197421884 [GRCh38]
Chr1:197391014 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) single nucleotide variant Leber congenital amaurosis 1 [RCV000986496]|Retinitis pigmentosa 12 [RCV001824163]|Retinitis pigmentosa 12 [RCV001858644]|not provided [RCV001726405]|not specified [RCV003331014] Chr1:197435516 [GRCh38]
Chr1:197404646 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) single nucleotide variant Early-onset retinal dystrophy [RCV000786007]|Leber congenital amaurosis 8 [RCV001250600]|Leber congenital amaurosis [RCV001002994]|Pigmented paravenous retinochoroidal atrophy [RCV003453620]|Retinal dystrophy [RCV001075564]|Retinitis pigmentosa 12 [RCV001869175]|Retinitis pigmentosa 12 [RCV003453619] Chr1:197427555 [GRCh38]
Chr1:197396685 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter) single nucleotide variant Early-onset retinal dystrophy [RCV000786008]|Leber congenital amaurosis 8 [RCV001250630]|not provided [RCV003141768] Chr1:197427998 [GRCh38]
Chr1:197397128 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2677-343G>A single nucleotide variant Leber congenital amaurosis 8 [RCV003446573]|Pigmented paravenous retinochoroidal atrophy [RCV002481765]|Pigmented paravenous retinochoroidal atrophy [RCV003446574]|Retinitis pigmentosa 12 [RCV003446572]|not provided [RCV000994217] Chr1:197429106 [GRCh38]
Chr1:197398236 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.*324C>A single nucleotide variant Leber congenital amaurosis 8 [RCV001097742]|Pigmented paravenous retinochoroidal atrophy [RCV001097740]|Retinitis pigmentosa [RCV001097741] Chr1:197478203 [GRCh38]
Chr1:197447333 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003455182]|Retinitis pigmentosa 12 [RCV001044149]|Retinitis pigmentosa 12 [RCV003455181]|not provided [RCV001531025] Chr1:197442283 [GRCh38]
Chr1:197411413 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1389C>A (p.Gly463=) single nucleotide variant Retinitis pigmentosa 12 [RCV001445373] Chr1:197421217 [GRCh38]
Chr1:197390347 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln) single nucleotide variant Retinitis pigmentosa [RCV000787824] Chr1:197421384 [GRCh38]
Chr1:197390514 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2677-129C>A single nucleotide variant not provided [RCV001643447] Chr1:197429320 [GRCh38]
Chr1:197398450 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) single nucleotide variant Leber congenital amaurosis 8 [RCV001250596]|Leber congenital amaurosis [RCV001830677]|Retinitis pigmentosa 12 [RCV000795927]|Retinitis pigmentosa [RCV000787575]|not provided [RCV001766622] Chr1:197421720 [GRCh38]
Chr1:197390850 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.4168C>T (p.Arg1390Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003473495]|Retinitis pigmentosa 12 [RCV000816727]|Retinitis pigmentosa 12 [RCV003446450] Chr1:197477826 [GRCh38]
Chr1:197446956 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3150G>A (p.Arg1050=) single nucleotide variant not provided [RCV000937769] Chr1:197435013 [GRCh38]
Chr1:197404143 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2580A>G (p.Gln860=) single nucleotide variant Retinitis pigmentosa 12 [RCV000893269] Chr1:197427905 [GRCh38]
Chr1:197397035 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.957T>C (p.Ser319=) single nucleotide variant Leber congenital amaurosis [RCV001836015]|Retinitis pigmentosa 12 [RCV001417074] Chr1:197347448 [GRCh38]
Chr1:197316578 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3037C>T (p.Gln1013Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250612]|Retinitis pigmentosa 12 [RCV000817389] Chr1:197434900 [GRCh38]
Chr1:197404030 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1783G>T (p.Ala595Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV000795409] Chr1:197421611 [GRCh38]
Chr1:197390741 [GRCh37]
Chr1:1q31.3
uncertain significance
NC_000001.11:g.(?_197268413)_(197357013_?)del deletion Retinitis pigmentosa 12 [RCV001031222] Chr1:197237543..197326143 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1496G>T (p.Gly499Val) single nucleotide variant Leber congenital amaurosis 8 [RCV001099017]|Pigmented paravenous retinochoroidal atrophy [RCV001099019]|Retinitis pigmentosa [RCV001099018] Chr1:197421324 [GRCh38]
Chr1:197390454 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.281_282del (p.Phe94fs) deletion Leber congenital amaurosis 1 [RCV000986479] Chr1:197328631..197328632 [GRCh38]
Chr1:197297761..197297762 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.862T>A (p.Cys288Ser) single nucleotide variant not provided [RCV000994215] Chr1:197347353 [GRCh38]
Chr1:197316483 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr) single nucleotide variant Leber congenital amaurosis 1 [RCV000986487]|Leber congenital amaurosis 8 [RCV003454999]|Pigmented paravenous retinochoroidal atrophy [RCV003455000]|Retinitis pigmentosa 12 [RCV003454998]|not provided [RCV001759677] Chr1:197421141 [GRCh38]
Chr1:197390271 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser) single nucleotide variant Leber congenital amaurosis [RCV001830044]|Retinitis pigmentosa 12 [RCV001248575] Chr1:197328551 [GRCh38]
Chr1:197297681 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1381C>T (p.Gln461Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003449718]|Retinitis pigmentosa 12 [RCV001228468]|Retinitis pigmentosa 12 [RCV003449717]|not provided [RCV001780159] Chr1:197421209 [GRCh38]
Chr1:197390339 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala) single nucleotide variant Leber congenital amaurosis [RCV001828701]|Retinitis pigmentosa 12 [RCV001213197] Chr1:197427600 [GRCh38]
Chr1:197396730 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1334_1740del (p.Cys445fs) deletion Retinitis pigmentosa 12 [RCV001068280] Chr1:197421161..197421567 [GRCh38]
Chr1:197390291..197390697 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) single nucleotide variant Leber congenital amaurosis 8 [RCV001262780]|Leber congenital amaurosis [RCV001836246]|Pigmented paravenous retinochoroidal atrophy [RCV003449797]|Retinitis pigmentosa 12 [RCV001247579]|Retinitis pigmentosa 12 [RCV003449796]|not provided [RCV001310548] Chr1:197477718 [GRCh38]
Chr1:197446848 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1562C>T (p.Ala521Val) single nucleotide variant Retinitis pigmentosa [RCV001249877] Chr1:197421390 [GRCh38]
Chr1:197390520 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1949G>A (p.Trp650Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001208214] Chr1:197421777 [GRCh38]
Chr1:197390907 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1094_1095delinsCT (p.Arg365Pro) indel Retinitis pigmentosa 12 [RCV001238932] Chr1:197356936..197356937 [GRCh38]
Chr1:197326066..197326067 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2
not provided
NM_201253.3(CRB1):c.1472A>T (p.Asp491Val) single nucleotide variant CRB1-related maculopathy [RCV001352966]|Retinitis pigmentosa 12 [RCV001237375] Chr1:197421300 [GRCh38]
Chr1:197390430 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) single nucleotide variant Leber congenital amaurosis 8 [RCV003449688]|Pigmented paravenous retinochoroidal atrophy [RCV002484183]|Pigmented paravenous retinochoroidal atrophy [RCV003449689]|Retinitis pigmentosa 12 [RCV001217937]|Retinitis pigmentosa 12 [RCV003449687] Chr1:197442223 [GRCh38]
Chr1:197411353 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe) single nucleotide variant Leber congenital amaurosis [RCV001835104]|Retinitis pigmentosa 12 [RCV001241461] Chr1:197435249 [GRCh38]
Chr1:197404379 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln) single nucleotide variant Leber congenital amaurosis 8 [RCV003449764]|Leber congenital amaurosis [RCV001829032]|Pigmented paravenous retinochoroidal atrophy [RCV002491813]|Pigmented paravenous retinochoroidal atrophy [RCV003449765]|Retinitis pigmentosa 12 [RCV001243452]|Retinitis pigmentosa 12 [RCV003449763] Chr1:197427556 [GRCh38]
Chr1:197396686 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV003449757]|Leber congenital amaurosis [RCV001835131]|Pigmented paravenous retinochoroidal atrophy [RCV002484332]|Pigmented paravenous retinochoroidal atrophy [RCV003449758]|Retinitis pigmentosa 12 [RCV001242572]|Retinitis pigmentosa 12 [RCV003449756] Chr1:197434738 [GRCh38]
Chr1:197403868 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1810T>G (p.Ser604Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV001242573] Chr1:197421638 [GRCh38]
Chr1:197390768 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3395_3879-490del deletion Retinitis pigmentosa 12 [RCV001210188] Chr1:197435256..197441674 [GRCh38]
Chr1:197404386..197410804 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly) single nucleotide variant Leber congenital amaurosis [RCV001828875]|Retinitis pigmentosa 12 [RCV001235620] Chr1:197328448 [GRCh38]
Chr1:197297578 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1971del (p.Asn657fs) deletion Leber congenital amaurosis 8 [RCV001250597] Chr1:197421799 [GRCh38]
Chr1:197390929 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn) single nucleotide variant Leber congenital amaurosis 8 [RCV001250613]|Retinal dystrophy [RCV003331092] Chr1:197434937 [GRCh38]
Chr1:197404067 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2843-1G>T single nucleotide variant Leber congenital amaurosis 8 [RCV003473786]|Leber congenital amaurosis [RCV001828805]|Retinitis pigmentosa 12 [RCV001226168] Chr1:197434705 [GRCh38]
Chr1:197403835 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys) single nucleotide variant Leber congenital amaurosis 8 [RCV001250616]|Pigmented paravenous retinochoroidal atrophy [RCV002491856] Chr1:197435012 [GRCh38]
Chr1:197404142 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3999_4005+4delinsAAAGGAGAGC indel Leber congenital amaurosis 8 [RCV001250621] Chr1:197442286..197442296 [GRCh38]
Chr1:197411416..197411426 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys) single nucleotide variant Leber congenital amaurosis [RCV001833995]|Retinitis pigmentosa 12 [RCV001230501] Chr1:197328863 [GRCh38]
Chr1:197297993 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3934T>A (p.Cys1312Ser) single nucleotide variant Retinitis pigmentosa [RCV001199676] Chr1:197442221 [GRCh38]
Chr1:197411351 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr) single nucleotide variant Intellectual disability [RCV001251961]|Leber congenital amaurosis 8 [RCV001250595] Chr1:197421578 [GRCh38]
Chr1:197390708 [GRCh37]
Chr1:1q31.3
likely pathogenic|likely benign
NM_201253.3(CRB1):c.4073T>A (p.Ile1358Asn) single nucleotide variant Leber congenital amaurosis 8 [RCV001250632] Chr1:197477731 [GRCh38]
Chr1:197446861 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.691C>T (p.Gln231Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250634]|Retinitis pigmentosa 12 [RCV001879782] Chr1:197344319 [GRCh38]
Chr1:197313449 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3308G>T (p.Gly1103Val) single nucleotide variant Leber congenital amaurosis 8 [RCV001250637] Chr1:197435171 [GRCh38]
Chr1:197404301 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1041del (p.Cys348fs) deletion Leber congenital amaurosis 8 [RCV001250649] Chr1:197356880 [GRCh38]
Chr1:197326010 [GRCh37]
Chr1:1q31.3
pathogenic
GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1 copy number loss not provided [RCV000847068] Chr1:196315481..200200856 [GRCh37]
Chr1:1q31.3-32.1
uncertain significance
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe) single nucleotide variant Leber congenital amaurosis 1 [RCV000986482] Chr1:197328839 [GRCh38]
Chr1:197297969 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter) single nucleotide variant Leber congenital amaurosis 1 [RCV000986486]|Leber congenital amaurosis 8 [RCV003454997]|Retinitis pigmentosa 12 [RCV001858643]|Retinitis pigmentosa 12 [RCV003454996] Chr1:197347475 [GRCh38]
Chr1:197316605 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro) single nucleotide variant Leber congenital amaurosis 1 [RCV000986489]|Retinitis pigmentosa 12 [RCV001339131] Chr1:197421461 [GRCh38]
Chr1:197390591 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs) deletion Leber congenital amaurosis 1 [RCV000986492]|Leber congenital amaurosis 8 [RCV003455002]|Retinitis pigmentosa 12 [RCV001042752]|Retinitis pigmentosa 12 [RCV003455001]|not provided [RCV003222187] Chr1:197427856..197427862 [GRCh38]
Chr1:197396986..197396992 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer) microsatellite Leber congenital amaurosis 1 [RCV000986495]|Leber congenital amaurosis 8 [RCV001250618]|Pigmented paravenous retinochoroidal atrophy [RCV003455004]|Retinitis pigmentosa 12 [RCV001869335]|Retinitis pigmentosa 12 [RCV003455003] Chr1:197435323..197435324 [GRCh38]
Chr1:197404453..197404454 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met) single nucleotide variant Inborn genetic diseases [RCV002568647]|Leber congenital amaurosis 8 [RCV003449781]|Leber congenital amaurosis [RCV001835259]|Pigmented paravenous retinochoroidal atrophy [RCV003449782]|Retinitis pigmentosa 12 [RCV001246203]|Retinitis pigmentosa 12 [RCV003449780] Chr1:197435488 [GRCh38]
Chr1:197404618 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.523G>A (p.Val175Ile) single nucleotide variant Pigmented paravenous retinochoroidal atrophy [RCV001196100] Chr1:197328874 [GRCh38]
Chr1:197298004 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg) single nucleotide variant Leber congenital amaurosis [RCV001832411]|Retinitis pigmentosa 12 [RCV001043191] Chr1:197347383 [GRCh38]
Chr1:197316513 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3143_3154delinsA (p.Thr1048fs) indel Leber congenital amaurosis 8 [RCV003473832]|Retinitis pigmentosa 12 [RCV001246724] Chr1:197435006..197435017 [GRCh38]
Chr1:197404136..197404147 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2243del (p.Pro748fs) deletion Leber congenital amaurosis 8 [RCV001250603] Chr1:197427567 [GRCh38]
Chr1:197396697 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2585T>G (p.Leu862Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV001250607] Chr1:197427910 [GRCh38]
Chr1:197397040 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2420T>C (p.Leu807Pro) single nucleotide variant Leber congenital amaurosis 8 [RCV001250628] Chr1:197427745 [GRCh38]
Chr1:197396875 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3668_3669delinsA (p.Gln1222_Cys1223insTer) indel Leber congenital amaurosis 8 [RCV001250631] Chr1:197435531..197435532 [GRCh38]
Chr1:197404661..197404662 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2234C>A (p.Thr745Lys) single nucleotide variant Leber congenital amaurosis 8 [RCV001250643]|Retinitis pigmentosa 12 [RCV001879784] Chr1:197427559 [GRCh38]
Chr1:197396689 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2638A>G (p.Asn880Asp) single nucleotide variant Leber congenital amaurosis 8 [RCV001250644] Chr1:197427963 [GRCh38]
Chr1:197397093 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250650]|Retinitis pigmentosa 12 [RCV002568707] Chr1:197427791 [GRCh38]
Chr1:197396921 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.624T>A (p.Tyr208Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250656] Chr1:197328975 [GRCh38]
Chr1:197298105 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3878G>A (p.Trp1293Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003449636]|Pigmented paravenous retinochoroidal atrophy [RCV001198223]|Retinitis pigmentosa 12 [RCV001859201]|Retinitis pigmentosa 12 [RCV003449635] Chr1:197438675 [GRCh38]
Chr1:197407805 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter) single nucleotide variant Leber congenital amaurosis [RCV001199672] Chr1:197427458 [GRCh38]
Chr1:197396588 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro) single nucleotide variant Leber congenital amaurosis [RCV001199674] Chr1:197429581 [GRCh38]
Chr1:197398711 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.803_806del (p.Ser268fs) deletion Retinitis pigmentosa [RCV001199678] Chr1:197344429..197344432 [GRCh38]
Chr1:197313559..197313562 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1171+2T>G single nucleotide variant Retinitis pigmentosa [RCV001199679] Chr1:197357015 [GRCh38]
Chr1:197326145 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.687G>A (p.Trp229Ter) single nucleotide variant Retinitis pigmentosa [RCV001249873] Chr1:197344315 [GRCh38]
Chr1:197313445 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2480G>T (p.Gly827Val) single nucleotide variant Retinitis pigmentosa 12 [RCV003230253] Chr1:197427805 [GRCh38]
Chr1:197396935 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.276G>C (p.Arg92Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001866041]|not provided [RCV001572821] Chr1:197328627 [GRCh38]
Chr1:197297757 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2416G>C (p.Glu806Gln) single nucleotide variant not specified [RCV003317690] Chr1:197427741 [GRCh38]
Chr1:197396871 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2093G>A (p.Cys698Tyr) single nucleotide variant not specified [RCV003317691] Chr1:197421921 [GRCh38]
Chr1:197391051 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.652+240T>C single nucleotide variant not provided [RCV001685087] Chr1:197329243 [GRCh38]
Chr1:197298373 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.3144del (p.Ser1049fs) deletion not provided [RCV001551888] Chr1:197435006 [GRCh38]
Chr1:197404136 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.988+35C>T single nucleotide variant not provided [RCV001718220] Chr1:197347514 [GRCh38]
Chr1:197316644 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.3086T>C (p.Val1029Ala) single nucleotide variant not provided [RCV001532092] Chr1:197434949 [GRCh38]
Chr1:197404079 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2677-493A>G single nucleotide variant Leber congenital amaurosis 8 [RCV001532867]|Pigmented paravenous retinochoroidal atrophy [RCV001532868]|Retinitis pigmentosa 12 [RCV001532869] Chr1:197428956 [GRCh38]
Chr1:197398086 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.3878+9C>T single nucleotide variant Pigmented paravenous retinochoroidal atrophy [RCV001199229]|Retinitis pigmentosa 12 [RCV001466667] Chr1:197438684 [GRCh38]
Chr1:197407814 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.483C>G (p.Ala161=) single nucleotide variant Retinitis pigmentosa 12 [RCV000979232] Chr1:197328834 [GRCh38]
Chr1:197297964 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1914G>A (p.Ser638=) single nucleotide variant Retinitis pigmentosa 12 [RCV001475485] Chr1:197421742 [GRCh38]
Chr1:197390872 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1230T>C (p.Gly410=) single nucleotide variant Retinitis pigmentosa 12 [RCV001402028] Chr1:197421058 [GRCh38]
Chr1:197390188 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2925T>C (p.Asn975=) single nucleotide variant Retinitis pigmentosa 12 [RCV000928078] Chr1:197434788 [GRCh38]
Chr1:197403918 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1089T>C (p.Tyr363=) single nucleotide variant Retinitis pigmentosa 12 [RCV000967890] Chr1:197356931 [GRCh38]
Chr1:197326061 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2235G>A (p.Thr745=) single nucleotide variant Retinitis pigmentosa 12 [RCV000932756] Chr1:197427560 [GRCh38]
Chr1:197396690 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.627T>C (p.Thr209=) single nucleotide variant Retinitis pigmentosa 12 [RCV000980651] Chr1:197328978 [GRCh38]
Chr1:197298108 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2874C>T (p.Ser958=) single nucleotide variant Leber congenital amaurosis 8 [RCV001097542]|Leber congenital amaurosis [RCV001271900]|Pigmented paravenous retinochoroidal atrophy [RCV001097541]|Retinitis pigmentosa 12 [RCV000964760]|Retinitis pigmentosa [RCV001099305] Chr1:197434737 [GRCh38]
Chr1:197403867 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys) single nucleotide variant Leber congenital amaurosis [RCV001836244]|Retinitis pigmentosa 12 [RCV001247191] Chr1:197356935 [GRCh38]
Chr1:197326065 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.699T>A (p.Cys233Ter) single nucleotide variant Pigmented paravenous retinochoroidal atrophy [RCV001198728] Chr1:197344327 [GRCh38]
Chr1:197313457 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2805C>A (p.His935Gln) single nucleotide variant Leber congenital amaurosis [RCV001828798]|Retinitis pigmentosa 12 [RCV001225696] Chr1:197429577 [GRCh38]
Chr1:197398707 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2229_2230insTCCATGTTGAAGC (p.Arg744fs) insertion Retinitis pigmentosa 12 [RCV001225983] Chr1:197427553..197427554 [GRCh38]
Chr1:197396683..197396684 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4219T>A (p.Ter1407Lys) single nucleotide variant Retinitis pigmentosa [RCV001249874] Chr1:197477877 [GRCh38]
Chr1:197447007 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.523_532dup (p.Tyr178fs) duplication Retinitis pigmentosa 12 [RCV001244716] Chr1:197328872..197328873 [GRCh38]
Chr1:197298002..197298003 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2219C>T (p.Ser740Phe) single nucleotide variant Leber congenital amaurosis 8 [RCV001250599] Chr1:197427544 [GRCh38]
Chr1:197396674 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3854G>A (p.Cys1285Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV001250651] Chr1:197438651 [GRCh38]
Chr1:197407781 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1818T>A (p.Cys606Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250655] Chr1:197421646 [GRCh38]
Chr1:197390776 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile) single nucleotide variant Leber congenital amaurosis [RCV001827318]|Retinitis pigmentosa 12 [RCV001050405] Chr1:197427888 [GRCh38]
Chr1:197397018 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro) single nucleotide variant Leber congenital amaurosis [RCV001836232]|Retinitis pigmentosa 12 [RCV001245043] Chr1:197429585 [GRCh38]
Chr1:197398715 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3110_3143dup (p.Ser1049fs) duplication Retinitis pigmentosa 12 [RCV001203809] Chr1:197434972..197434973 [GRCh38]
Chr1:197404102..197404103 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV003449747]|Pigmented paravenous retinochoroidal atrophy [RCV002491791]|Pigmented paravenous retinochoroidal atrophy [RCV003449748]|Retinitis pigmentosa 12 [RCV001240151]|Retinitis pigmentosa 12 [RCV003449746] Chr1:197328986 [GRCh38]
Chr1:197298116 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.601T>C (p.Cys201Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001243685] Chr1:197328952 [GRCh38]
Chr1:197298082 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His) single nucleotide variant Leber congenital amaurosis [RCV001275661]|Retinitis pigmentosa 12 [RCV001051385] Chr1:197477806 [GRCh38]
Chr1:197446936 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2423A>G (p.Tyr808Cys) single nucleotide variant Leber congenital amaurosis 8 [RCV003449774]|Pigmented paravenous retinochoroidal atrophy [RCV003449775]|Retinitis pigmentosa 12 [RCV001245639]|Retinitis pigmentosa 12 [RCV001810005] Chr1:197427748 [GRCh38]
Chr1:197396878 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1883T>C (p.Leu628Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV001234537] Chr1:197421711 [GRCh38]
Chr1:197390841 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3739A>G (p.Lys1247Glu) single nucleotide variant Retinitis pigmentosa 12 [RCV001240884] Chr1:197435602 [GRCh38]
Chr1:197404732 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.527C>T (p.Pro176Leu) single nucleotide variant Pigmented paravenous retinochoroidal atrophy [RCV001196101] Chr1:197328878 [GRCh38]
Chr1:197298008 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1094G>A (p.Arg365His) single nucleotide variant Inborn genetic diseases [RCV003353255]|Leber congenital amaurosis [RCV001828975]|Retinitis pigmentosa 12 [RCV001241405] Chr1:197356936 [GRCh38]
Chr1:197326066 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp) single nucleotide variant Inborn genetic diseases [RCV002563068]|Leber congenital amaurosis 8 [RCV003449711]|Leber congenital amaurosis [RCV001277522]|Pigmented paravenous retinochoroidal atrophy [RCV003449712]|Retinitis pigmentosa 12 [RCV001225096]|Retinitis pigmentosa 12 [RCV003449710] Chr1:197429485 [GRCh38]
Chr1:197398615 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys) single nucleotide variant Leber congenital amaurosis [RCV001836167]|Retinitis pigmentosa 12 [RCV001221024] Chr1:197427630 [GRCh38]
Chr1:197396760 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe) single nucleotide variant Leber congenital amaurosis 8 [RCV003455189]|Leber congenital amaurosis [RCV001275652]|Pigmented paravenous retinochoroidal atrophy [RCV002505581]|Pigmented paravenous retinochoroidal atrophy [RCV003455190]|Retinitis pigmentosa 12 [RCV001046293]|Retinitis pigmentosa 12 [RCV003455188] Chr1:197427813 [GRCh38]
Chr1:197396943 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4107C>T (p.Thr1369=) single nucleotide variant Retinitis pigmentosa 12 [RCV001411295] Chr1:197477765 [GRCh38]
Chr1:197446895 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2544C>T (p.Phe848=) single nucleotide variant Retinitis pigmentosa 12 [RCV000935686] Chr1:197427869 [GRCh38]
Chr1:197396999 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2019G>A (p.Lys673=) single nucleotide variant Retinitis pigmentosa 12 [RCV000934128] Chr1:197421847 [GRCh38]
Chr1:197390977 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.447C>T (p.His149=) single nucleotide variant Leber congenital amaurosis [RCV001832054]|Retinitis pigmentosa 12 [RCV000911852] Chr1:197328798 [GRCh38]
Chr1:197297928 [GRCh37]
Chr1:1q31.3
benign|likely benign
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs) duplication Leber congenital amaurosis 1 [RCV000986488] Chr1:197421282..197421283 [GRCh38]
Chr1:197390412..197390413 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.988+155A>G single nucleotide variant not provided [RCV001540240] Chr1:197347634 [GRCh38]
Chr1:197316764 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.2340C>T (p.Pro780=) single nucleotide variant Leber congenital amaurosis 8 [RCV001563882]|Retinitis pigmentosa 12 [RCV001563883]|Retinitis pigmentosa 12 [RCV002072150] Chr1:197427665 [GRCh38]
Chr1:197396795 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.3559A>T (p.Ile1187Phe) single nucleotide variant Leber congenital amaurosis 8 [RCV001563886]|Retinitis pigmentosa 12 [RCV001563887] Chr1:197435422 [GRCh38]
Chr1:197404552 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1204T>G (p.Ser402Ala) single nucleotide variant Leber congenital amaurosis 8 [RCV001563889]|Retinitis pigmentosa 12 [RCV001563890] Chr1:197421032 [GRCh38]
Chr1:197390162 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1793C>T (p.Pro598Leu) single nucleotide variant not provided [RCV001573661] Chr1:197421621 [GRCh38]
Chr1:197390751 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4207G>C (p.Glu1403Gln) single nucleotide variant Leber congenital amaurosis 8 [RCV003473688]|Retinitis pigmentosa 12 [RCV001065861] Chr1:197477865 [GRCh38]
Chr1:197446995 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.70+50_70+52del microsatellite not provided [RCV001717302] Chr1:197268528..197268530 [GRCh38]
Chr1:197237658..197237660 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.3878+137A>G single nucleotide variant not provided [RCV001656098] Chr1:197438812 [GRCh38]
Chr1:197407942 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.1171+116G>A single nucleotide variant not provided [RCV001657583] Chr1:197357129 [GRCh38]
Chr1:197326259 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.4006-92G>T single nucleotide variant not provided [RCV001617569] Chr1:197477572 [GRCh38]
Chr1:197446702 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.988+48T>C single nucleotide variant not provided [RCV001718219] Chr1:197347527 [GRCh38]
Chr1:197316657 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.3750-238C>T single nucleotide variant not provided [RCV001594652] Chr1:197438309 [GRCh38]
Chr1:197407439 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.57dup (p.Ile20fs) duplication Inborn genetic diseases [RCV001265713]|Leber congenital amaurosis 8 [RCV001250580]|Retinitis pigmentosa 12 [RCV001390793]|Retinitis pigmentosa 12 [RCV003455429]|not provided [RCV001091025] Chr1:197268467..197268468 [GRCh38]
Chr1:197237597..197237598 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.63C>A (p.Tyr21Ter) single nucleotide variant not provided [RCV001091026] Chr1:197268475 [GRCh38]
Chr1:197237605 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV003473709]|not provided [RCV001091027] Chr1:197328758 [GRCh38]
Chr1:197297888 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1149dup (p.Ile384fs) duplication Leber congenital amaurosis 8 [RCV003455431]|Retinitis pigmentosa 12 [RCV001386064]|Retinitis pigmentosa 12 [RCV003455430]|not provided [RCV001092286] Chr1:197356990..197356991 [GRCh38]
Chr1:197326120..197326121 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys) single nucleotide variant Leber congenital amaurosis 8 [RCV003455433]|Retinitis pigmentosa 12 [RCV001380407]|Retinitis pigmentosa 12 [RCV003455432]|not provided [RCV001092287] Chr1:197427496 [GRCh38]
Chr1:197396626 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs) duplication Leber congenital amaurosis 8 [RCV003455435]|Retinitis pigmentosa 12 [RCV001862707]|Retinitis pigmentosa 12 [RCV003455434]|not provided [RCV001092288] Chr1:197435574..197435575 [GRCh38]
Chr1:197404704..197404705 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=) single nucleotide variant Leber congenital amaurosis 8 [RCV003455038]|Pigmented paravenous retinochoroidal atrophy [RCV003455039]|Retinitis pigmentosa 12 [RCV002068752]|Retinitis pigmentosa 12 [RCV003455037]|not specified [RCV001000419] Chr1:197477732 [GRCh38]
Chr1:197446862 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.-56C>G single nucleotide variant Leber congenital amaurosis 8 [RCV001098822]|Pigmented paravenous retinochoroidal atrophy [RCV001098823]|Retinitis pigmentosa [RCV001097073] Chr1:197268357 [GRCh38]
Chr1:197237487 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro) single nucleotide variant Leber congenital amaurosis 8 [RCV003455171]|Leber congenital amaurosis [RCV001827256]|Pigmented paravenous retinochoroidal atrophy [RCV003455172]|Retinal dystrophy [RCV001074779]|Retinitis pigmentosa 12 [RCV001042149]|Retinitis pigmentosa 12 [RCV003455170] Chr1:197427625 [GRCh38]
Chr1:197396755 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val) single nucleotide variant Leber congenital amaurosis 8 [RCV001250611]|Leber congenital amaurosis [RCV001832464]|Pigmented paravenous retinochoroidal atrophy [RCV003455213]|Retinal dystrophy [RCV001073588]|Retinitis pigmentosa 12 [RCV001049924]|Retinitis pigmentosa 12 [RCV003455212] Chr1:197434877 [GRCh38]
Chr1:197404007 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys) single nucleotide variant Leber congenital amaurosis [RCV001275644]|Retinitis pigmentosa 12 [RCV001046914] Chr1:197344307 [GRCh38]
Chr1:197313437 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.98G>A (p.Arg33Lys) single nucleotide variant Leber congenital amaurosis 8 [RCV001100636]|Pigmented paravenous retinochoroidal atrophy [RCV001100638]|Retinitis pigmentosa [RCV001100637] Chr1:197328449 [GRCh38]
Chr1:197297579 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.*99G>T single nucleotide variant Leber congenital amaurosis 8 [RCV001101413]|Pigmented paravenous retinochoroidal atrophy [RCV001101415]|Retinitis pigmentosa [RCV001101414] Chr1:197477978 [GRCh38]
Chr1:197447108 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1878T>C (p.Ala626=) single nucleotide variant Leber congenital amaurosis 8 [RCV001101090]|Pigmented paravenous retinochoroidal atrophy [RCV001101091]|Retinitis pigmentosa 12 [RCV001443187]|Retinitis pigmentosa [RCV001100836] Chr1:197421706 [GRCh38]
Chr1:197390836 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.522T>A (p.Cys174Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001047854] Chr1:197328873 [GRCh38]
Chr1:197298003 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala) single nucleotide variant Leber congenital amaurosis 8 [RCV001101196]|Pigmented paravenous retinochoroidal atrophy [RCV001101198]|Retinitis pigmentosa 12 [RCV002554974]|Retinitis pigmentosa 12 [RCV003449558]|Retinitis pigmentosa [RCV001101197] Chr1:197427961 [GRCh38]
Chr1:197397091 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3564T>G (p.His1188Gln) single nucleotide variant Leber congenital amaurosis 8 [RCV001580682]|Pigmented paravenous retinochoroidal atrophy [RCV001580683]|Retinitis pigmentosa 12 [RCV001580681]|Retinitis pigmentosa 12 [RCV001866102] Chr1:197435427 [GRCh38]
Chr1:197404557 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro) single nucleotide variant Retinitis pigmentosa [RCV001002991] Chr1:197421495 [GRCh38]
Chr1:197390625 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly) single nucleotide variant Retinitis pigmentosa [RCV001002999] Chr1:197442278 [GRCh38]
Chr1:197411408 [GRCh37]
Chr1:1q31.3
likely pathogenic
NC_000001.11:g.(?_197438537)_(197442544_?)del deletion Retinitis pigmentosa 12 [RCV001032410] Chr1:197407667..197411674 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3881G>A (p.Cys1294Tyr) single nucleotide variant Cone-rod dystrophy [RCV001725800]|Retinitis pigmentosa 12 [RCV002539755] Chr1:197442168 [GRCh38]
Chr1:197411298 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NC_000001.11:g.(?_197328412)_(197442544_?)del deletion Retinitis pigmentosa 12 [RCV001032929] Chr1:197297542..197411674 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) single nucleotide variant Leber congenital amaurosis [RCV001002992]|Retinitis pigmentosa 12 [RCV001376464]|Retinitis pigmentosa 12 [RCV002549196] Chr1:197421561 [GRCh38]
Chr1:197390691 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.989-53T>G single nucleotide variant Leber congenital amaurosis 8 [RCV001532842]|Pigmented paravenous retinochoroidal atrophy [RCV001532843]|Retinitis pigmentosa 12 [RCV001532844]|not provided [RCV001692452] Chr1:197356778 [GRCh38]
Chr1:197325908 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.291del (p.Lys97fs) deletion Leber congenital amaurosis 8 [RCV001580680]|Retinitis pigmentosa 12 [RCV001580679] Chr1:197328640 [GRCh38]
Chr1:197297770 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1697del (p.Glu566fs) deletion Retinitis pigmentosa 12 [RCV001047466] Chr1:197421525 [GRCh38]
Chr1:197390655 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1844G>A (p.Gly615Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV002539742]|Retinitis pigmentosa [RCV001724857] Chr1:197421672 [GRCh38]
Chr1:197390802 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.750T>A (p.Cys250Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001591927] Chr1:197344378 [GRCh38]
Chr1:197313508 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.862T>C (p.Cys288Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV003451823]|Pigmented paravenous retinochoroidal atrophy [RCV003451824]|Retinitis pigmentosa 12 [RCV001591928]|Retinitis pigmentosa 12 [RCV001866164] Chr1:197347353 [GRCh38]
Chr1:197316483 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2694T>G (p.Asn898Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV001591930] Chr1:197429466 [GRCh38]
Chr1:197398596 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.20_23del (p.Asn7fs) deletion Leber congenital amaurosis 8 [RCV003451849]|Retinitis pigmentosa 12 [RCV002538622]|Retinitis pigmentosa 12 [RCV003451848]|Retinitis pigmentosa [RCV001698682] Chr1:197268430..197268433 [GRCh38]
Chr1:197237560..197237563 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.70+2T>A single nucleotide variant Retinitis pigmentosa 12 [RCV001045412] Chr1:197268484 [GRCh38]
Chr1:197237614 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys) single nucleotide variant Leber congenital amaurosis [RCV001827441]|Retinitis pigmentosa 12 [RCV001067630] Chr1:197438581 [GRCh38]
Chr1:197407711 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4001T>C (p.Val1334Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV001046880] Chr1:197442288 [GRCh38]
Chr1:197411418 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.*171C>G single nucleotide variant Leber congenital amaurosis 8 [RCV001095946]|Pigmented paravenous retinochoroidal atrophy [RCV001095947]|Retinitis pigmentosa [RCV001095948] Chr1:197478050 [GRCh38]
Chr1:197447180 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1483del (p.Trp495fs) deletion Retinitis pigmentosa [RCV001199474] Chr1:197421311 [GRCh38]
Chr1:197390441 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys) single nucleotide variant Leber congenital amaurosis 8 [RCV003455325]|Pigmented paravenous retinochoroidal atrophy [RCV003455326]|Retinal dystrophy [RCV001073526]|Retinitis pigmentosa 12 [RCV001378742]|Retinitis pigmentosa 12 [RCV003455324]|Retinitis pigmentosa [RCV001696228]|not provided [RCV001092289] Chr1:197442278 [GRCh38]
Chr1:197411408 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.379C>T (p.Gln127Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001204868] Chr1:197328730 [GRCh38]
Chr1:197297860 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile) single nucleotide variant Leber congenital amaurosis [RCV001828867]|Retinitis pigmentosa 12 [RCV001234801] Chr1:197438649 [GRCh38]
Chr1:197407779 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.733del (p.Ala245fs) deletion Retinitis pigmentosa [RCV001199677] Chr1:197344357 [GRCh38]
Chr1:197313487 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del) deletion Leber congenital amaurosis 8 [RCV001587287]|Retinitis pigmentosa 12 [RCV003449804]|Retinitis pigmentosa [RCV001249875] Chr1:197421272..197421280 [GRCh38]
Chr1:197390402..197390410 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2416G>T (p.Glu806Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003473703]|Retinal dystrophy [RCV001074301] Chr1:197427741 [GRCh38]
Chr1:197396871 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3451G>T (p.Gly1151Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003455381]|Pigmented paravenous retinochoroidal atrophy [RCV003455382]|Retinal dystrophy [RCV001074865]|Retinitis pigmentosa 12 [RCV001862578]|Retinitis pigmentosa 12 [RCV003455380] Chr1:197435314 [GRCh38]
Chr1:197404444 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2671T>C (p.Cys891Arg) single nucleotide variant Retinal dystrophy [RCV001074869] Chr1:197427996 [GRCh38]
Chr1:197397126 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1909C>T (p.Pro637Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV003455384]|Pigmented paravenous retinochoroidal atrophy [RCV003455385]|Retinal dystrophy [RCV001074870]|Retinitis pigmentosa 12 [RCV001862838]|Retinitis pigmentosa 12 [RCV003455383] Chr1:197421737 [GRCh38]
Chr1:197390867 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) deletion Leber congenital amaurosis 8 [RCV003473706]|Retinal dystrophy [RCV001074881]|Retinitis pigmentosa 12 [RCV001308869]|not provided [RCV001553389] Chr1:197427689..197427691 [GRCh38]
Chr1:197396819..197396821 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV003455397]|Leber congenital amaurosis [RCV001833693]|Pigmented paravenous retinochoroidal atrophy [RCV003455398]|Retinal dystrophy [RCV001075113]|Retinitis pigmentosa 12 [RCV001365938]|Retinitis pigmentosa 12 [RCV003455396] Chr1:197344424 [GRCh38]
Chr1:197313554 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3522_3523del (p.Cys1174_Glu1175delinsTer) microsatellite Retinal dystrophy [RCV001075360] Chr1:197435383..197435384 [GRCh38]
Chr1:197404513..197404514 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys) single nucleotide variant Leber congenital amaurosis 8 [RCV001099309]|Pigmented paravenous retinochoroidal atrophy [RCV001101292]|Retinitis pigmentosa 12 [RCV001856348]|Retinitis pigmentosa 12 [RCV003455457]|Retinitis pigmentosa [RCV001101293] Chr1:197434846 [GRCh38]
Chr1:197403976 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr) single nucleotide variant Leber congenital amaurosis 8 [RCV001099417]|Pigmented paravenous retinochoroidal atrophy [RCV001099416]|Retinitis pigmentosa 12 [RCV001873487]|Retinitis pigmentosa 12 [RCV003449552]|Retinitis pigmentosa [RCV001099415] Chr1:197477863 [GRCh38]
Chr1:197446993 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val) single nucleotide variant Leber congenital amaurosis 8 [RCV002250730]|Leber congenital amaurosis [RCV001833768]|Pigmented paravenous retinochoroidal atrophy [RCV003449640]|Retinal dystrophy [RCV003230647]|Retinitis pigmentosa 12 [RCV001201454]|Retinitis pigmentosa 12 [RCV003449639] Chr1:197421669 [GRCh38]
Chr1:197390799 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1493G>C (p.Ser498Thr) single nucleotide variant Leber congenital amaurosis 8 [RCV001097272]|Pigmented paravenous retinochoroidal atrophy [RCV001097270]|Retinitis pigmentosa [RCV001097271] Chr1:197421321 [GRCh38]
Chr1:197390451 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4142C>G (p.Pro1381Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV001250625] Chr1:197477800 [GRCh38]
Chr1:197446930 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu) single nucleotide variant Leber congenital amaurosis 8 [RCV001250641]|Pigmented paravenous retinochoroidal atrophy [RCV002246235]|Retinitis pigmentosa 12 [RCV001879783]|Retinitis pigmentosa 12 [RCV003449809] Chr1:197477800 [GRCh38]
Chr1:197446930 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3153G>A (p.Trp1051Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250647] Chr1:197435016 [GRCh38]
Chr1:197404146 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3507G>A (p.Trp1169Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250654] Chr1:197435370 [GRCh38]
Chr1:197404500 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.629G>T (p.Cys210Phe) single nucleotide variant Retinal dystrophy [RCV001075712] Chr1:197328980 [GRCh38]
Chr1:197298110 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1772_1775del (p.Cys591fs) deletion Autosomal recessive retinitis pigmentosa [RCV001257862]|Leber congenital amaurosis 8 [RCV003455418]|Pigmented paravenous retinochoroidal atrophy [RCV003455419]|Retinal dystrophy [RCV001075721]|Retinitis pigmentosa 12 [RCV001862628]|Retinitis pigmentosa 12 [RCV003455417] Chr1:197421598..197421601 [GRCh38]
Chr1:197390728..197390731 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2676+1G>T single nucleotide variant Retinal dystrophy [RCV001075834] Chr1:197428002 [GRCh38]
Chr1:197397132 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu) single nucleotide variant Leber congenital amaurosis [RCV001271892]|Retinitis pigmentosa 12 [RCV001036433] Chr1:197328620 [GRCh38]
Chr1:197297750 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu) single nucleotide variant Leber congenital amaurosis [RCV001832515]|Retinitis pigmentosa 12 [RCV001057226] Chr1:197427568 [GRCh38]
Chr1:197396698 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV003455044]|Leber congenital amaurosis [RCV001002988]|Retinal dystrophy [RCV001074569]|Retinitis pigmentosa 12 [RCV001377780]|Retinitis pigmentosa 12 [RCV003455043] Chr1:197328806 [GRCh38]
Chr1:197297936 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.*289A>G single nucleotide variant Leber congenital amaurosis 8 [RCV001097738]|Pigmented paravenous retinochoroidal atrophy [RCV001097737]|Retinitis pigmentosa [RCV001097739] Chr1:197478168 [GRCh38]
Chr1:197447298 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1148_1149dup (p.Ile384fs) duplication Leber congenital amaurosis 8 [RCV001250594] Chr1:197356988..197356989 [GRCh38]
Chr1:197326118..197326119 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2234C>G (p.Thr745Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV001250602] Chr1:197427559 [GRCh38]
Chr1:197396689 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2693A>G (p.Asn898Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV001250624] Chr1:197429465 [GRCh38]
Chr1:197398595 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4003G>T (p.Asp1335Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV001250633] Chr1:197442290 [GRCh38]
Chr1:197411420 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.805C>T (p.Gln269Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV001250635] Chr1:197344433 [GRCh38]
Chr1:197313563 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3408del (p.Cys1137fs) deletion Leber congenital amaurosis 8 [RCV001250648] Chr1:197435271 [GRCh38]
Chr1:197404401 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.976C>T (p.His326Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV003449737]|Leber congenital amaurosis [RCV001834059]|Pigmented paravenous retinochoroidal atrophy [RCV002491767]|Pigmented paravenous retinochoroidal atrophy [RCV003449738]|Retinitis pigmentosa 12 [RCV001237285]|Retinitis pigmentosa 12 [RCV003449736] Chr1:197347467 [GRCh38]
Chr1:197316597 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn) single nucleotide variant Leber congenital amaurosis [RCV001828718]|Retinitis pigmentosa 12 [RCV001215767] Chr1:197421773 [GRCh38]
Chr1:197390903 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1086A>T (p.Gln362His) single nucleotide variant Leber congenital amaurosis [RCV001828517]|Retinitis pigmentosa 12 [RCV001069305] Chr1:197356928 [GRCh38]
Chr1:197326058 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1172-3C>G single nucleotide variant Leber congenital amaurosis [RCV001834026]|Retinitis pigmentosa 12 [RCV001233609] Chr1:197420997 [GRCh38]
Chr1:197390127 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3881G>T (p.Cys1294Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV001233610] Chr1:197442168 [GRCh38]
Chr1:197411298 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2582A>C (p.Asn861Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV001248242] Chr1:197427907 [GRCh38]
Chr1:197397037 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.502G>T (p.Asp168Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001207330] Chr1:197328853 [GRCh38]
Chr1:197297983 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2303A>G (p.Glu768Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV001248004] Chr1:197427628 [GRCh38]
Chr1:197396758 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile) single nucleotide variant Inborn genetic diseases [RCV002568640]|Leber congenital amaurosis 8 [RCV003449778]|Leber congenital amaurosis [RCV001829974]|Pigmented paravenous retinochoroidal atrophy [RCV003449779]|Retinitis pigmentosa 12 [RCV001245928]|Retinitis pigmentosa 12 [RCV003449777] Chr1:197328614 [GRCh38]
Chr1:197297744 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001038213]|Retinitis pigmentosa 12 [RCV001376351] Chr1:197427895 [GRCh38]
Chr1:197397025 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1 copy number loss not provided [RCV001005157] Chr1:177551193..199599056 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_201253.3(CRB1):c.2708_2709del (p.His903fs) deletion Pigmented paravenous retinochoroidal atrophy [RCV001198222] Chr1:197429480..197429481 [GRCh38]
Chr1:197398610..197398611 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.308G>T (p.Ser103Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV001064522] Chr1:197328659 [GRCh38]
Chr1:197297789 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3698C>T (p.Thr1233Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV001232116] Chr1:197435561 [GRCh38]
Chr1:197404691 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.867G>A (p.Thr289=) single nucleotide variant Leber congenital amaurosis 8 [RCV001100736]|Leber congenital amaurosis [RCV001833700]|Pigmented paravenous retinochoroidal atrophy [RCV001100738]|Retinitis pigmentosa 12 [RCV001317879]|Retinitis pigmentosa [RCV001100737] Chr1:197347358 [GRCh38]
Chr1:197316488 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
Single allele insertion Retinitis pigmentosa 12 [RCV001089818] Chr1:1q31.3 pathogenic
NM_201253.3(CRB1):c.265C>T (p.Pro89Ser) single nucleotide variant Inborn genetic diseases [RCV003160630]|Leber congenital amaurosis 8 [RCV001100912]|Pigmented paravenous retinochoroidal atrophy [RCV001100911]|Retinitis pigmentosa 12 [RCV002554969]|Retinitis pigmentosa [RCV001100913] Chr1:197328616 [GRCh38]
Chr1:197297746 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.54_55insT (p.Leu19fs) insertion Retinitis pigmentosa [RCV001249876] Chr1:197268466..197268467 [GRCh38]
Chr1:197237596..197237597 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2578del (p.Gln860fs) deletion Retinitis pigmentosa 12 [RCV001230756] Chr1:197427902 [GRCh38]
Chr1:197397032 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.*81C>A single nucleotide variant Leber congenital amaurosis 8 [RCV001101411]|Pigmented paravenous retinochoroidal atrophy [RCV001101410]|Retinitis pigmentosa [RCV001101412] Chr1:197477960 [GRCh38]
Chr1:197447090 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4085C>A (p.Ala1362Asp) single nucleotide variant Leber congenital amaurosis 8 [RCV001250623] Chr1:197477743 [GRCh38]
Chr1:197446873 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.4006-10A>G single nucleotide variant Leber congenital amaurosis 8 [RCV003473660]|Pigmented paravenous retinochoroidal atrophy [RCV001197156]|Retinal dystrophy [RCV001074118]|Retinitis pigmentosa 12 [RCV001056224]|Retinitis pigmentosa 12 [RCV001376226] Chr1:197477654 [GRCh38]
Chr1:197446784 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.1348T>C (p.Cys450Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV003455314]|Pigmented paravenous retinochoroidal atrophy [RCV003455315]|Retinal dystrophy [RCV001073402]|Retinitis pigmentosa 12 [RCV002554660]|Retinitis pigmentosa 12 [RCV003455313] Chr1:197421176 [GRCh38]
Chr1:197390306 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3848G>A (p.Cys1283Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV003455317]|Pigmented paravenous retinochoroidal atrophy [RCV003455318]|Retinal dystrophy [RCV001073406]|Retinitis pigmentosa 12 [RCV001862803]|Retinitis pigmentosa 12 [RCV003455316] Chr1:197438645 [GRCh38]
Chr1:197407775 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4214del (p.Leu1405fs) deletion Leber congenital amaurosis 8 [RCV001250638] Chr1:197477872 [GRCh38]
Chr1:197447002 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala) single nucleotide variant Leber congenital amaurosis 8 [RCV001250640] Chr1:197427874 [GRCh38]
Chr1:197397004 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.974G>A (p.Cys325Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV001250642] Chr1:197347465 [GRCh38]
Chr1:197316595 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3164T>A (p.Val1055Glu) single nucleotide variant Leber congenital amaurosis 8 [RCV001250653] Chr1:197435027 [GRCh38]
Chr1:197404157 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3878+2dup duplication Retinal dystrophy [RCV001073626] Chr1:197438676..197438677 [GRCh38]
Chr1:197407806..197407807 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.547T>C (p.Cys183Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV001353026]|Retinal dystrophy [RCV001074004]|Retinitis pigmentosa 12 [RCV001862532] Chr1:197328898 [GRCh38]
Chr1:197298028 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3952A>T (p.Lys1318Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001230470] Chr1:197442239 [GRCh38]
Chr1:197411369 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.424G>T (p.Gly142Ter) single nucleotide variant Retinitis pigmentosa [RCV001002987] Chr1:197328775 [GRCh38]
Chr1:197297905 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2498G>A (p.Gly833Asp) single nucleotide variant Leber congenital amaurosis 8 [RCV001250627]|Retinitis pigmentosa 12 [RCV001862718]|Retinitis pigmentosa [RCV001002995] Chr1:197427823 [GRCh38]
Chr1:197396953 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4005+1G>A single nucleotide variant Leber congenital amaurosis 8 [RCV001250622]|Leber congenital amaurosis [RCV001003000]|Retinitis pigmentosa 12 [RCV002549197] Chr1:197442293 [GRCh38]
Chr1:197411423 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV001055816] Chr1:197477827 [GRCh38]
Chr1:197446957 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV001232801]|not provided [RCV001779138] Chr1:197427583 [GRCh38]
Chr1:197396713 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu) single nucleotide variant Leber congenital amaurosis [RCV001833875]|Retinitis pigmentosa 12 [RCV001214964] Chr1:197356938 [GRCh38]
Chr1:197326068 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1136C>G (p.Ser379Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003473646]|Retinitis pigmentosa 12 [RCV001052034] Chr1:197356978 [GRCh38]
Chr1:197326108 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1046A>T (p.Gln349Leu) single nucleotide variant Retinal dystrophy [RCV001074490]|Retinitis pigmentosa 12 [RCV002069579] Chr1:197356888 [GRCh38]
Chr1:197326018 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2956A>T (p.Asn986Tyr) single nucleotide variant Retinal dystrophy [RCV001074837] Chr1:197434819 [GRCh38]
Chr1:197403949 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1125C>G (p.Tyr375Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003455394]|Pigmented paravenous retinochoroidal atrophy [RCV003455395]|Retinal dystrophy [RCV001075076]|Retinitis pigmentosa 12 [RCV002554741]|Retinitis pigmentosa 12 [RCV003455393] Chr1:197356967 [GRCh38]
Chr1:197326097 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.-55C>T single nucleotide variant Leber congenital amaurosis 8 [RCV001098826]|Pigmented paravenous retinochoroidal atrophy [RCV001098824]|Retinitis pigmentosa [RCV001098825] Chr1:197268358 [GRCh38]
Chr1:197237488 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.639C>G (p.Pro213=) single nucleotide variant Leber congenital amaurosis 8 [RCV001098923]|Pigmented paravenous retinochoroidal atrophy [RCV001098925]|Retinitis pigmentosa [RCV001098924] Chr1:197328990 [GRCh38]
Chr1:197298120 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2294T>C (p.Val765Ala) single nucleotide variant Retinal dystrophy [RCV001075144] Chr1:197427619 [GRCh38]
Chr1:197396749 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257860]|Leber congenital amaurosis 8 [RCV003455400]|Pigmented paravenous retinochoroidal atrophy [RCV003455401]|Retinal dystrophy [RCV001075147]|Retinitis pigmentosa 12 [RCV001205896]|Retinitis pigmentosa 12 [RCV003455399]|Retinitis pigmentosa [RCV001724243] Chr1:197421257 [GRCh38]
Chr1:197390387 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1436T>C (p.Leu479Pro) single nucleotide variant Leber congenital amaurosis 8 [RCV003455403]|Pigmented paravenous retinochoroidal atrophy [RCV003455404]|Retinal dystrophy [RCV001075152]|Retinitis pigmentosa 12 [RCV002557921]|Retinitis pigmentosa 12 [RCV003455402] Chr1:197421264 [GRCh38]
Chr1:197390394 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2138C>T (p.Ala713Val) single nucleotide variant Retinal dystrophy [RCV001075772] Chr1:197427463 [GRCh38]
Chr1:197396593 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn) single nucleotide variant Leber congenital amaurosis [RCV001827405]|Retinitis pigmentosa 12 [RCV001063350] Chr1:197434757 [GRCh38]
Chr1:197403887 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2129-1G>C single nucleotide variant Retinitis pigmentosa 12 [RCV001203808] Chr1:197427453 [GRCh38]
Chr1:197396583 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.11:g.(?_197084314)_(197478465_?)del deletion Retinitis pigmentosa 12 [RCV001031330] Chr1:197053444..197447595 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2873G>A (p.Ser958Asn) single nucleotide variant Intellectual disability [RCV001251960] Chr1:197434736 [GRCh38]
Chr1:197403866 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.80G>T (p.Cys27Phe) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257868]|Leber congenital amaurosis 8 [RCV003473841] Chr1:197328431 [GRCh38]
Chr1:197297561 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1000G>A (p.Ala334Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV001889102] Chr1:197356842 [GRCh38]
Chr1:197325972 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.852T>A (p.Tyr284Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001907778] Chr1:197347343 [GRCh38]
Chr1:197316473 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2812C>T (p.Gln938Ter) single nucleotide variant not provided [RCV001268063] Chr1:197429584 [GRCh38]
Chr1:197398714 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.377A>G (p.His126Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001349570] Chr1:197328728 [GRCh38]
Chr1:197297858 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.238C>G (p.Gln80Glu) single nucleotide variant Retinitis pigmentosa 12 [RCV001303189] Chr1:197328589 [GRCh38]
Chr1:197297719 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3541T>A (p.Cys1181Ser) single nucleotide variant not provided [RCV001268197] Chr1:197435404 [GRCh38]
Chr1:197404534 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2914G>T (p.Glu972Ter) single nucleotide variant not provided [RCV001268598] Chr1:197434777 [GRCh38]
Chr1:197403907 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3495T>G (p.Cys1165Trp) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257867] Chr1:197435358 [GRCh38]
Chr1:197404488 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1463T>C (p.Phe488Ser) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257861] Chr1:197421291 [GRCh38]
Chr1:197390421 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.80G>C (p.Cys27Ser) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257858] Chr1:197328431 [GRCh38]
Chr1:197297561 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.479G>A (p.Gly160Glu) single nucleotide variant Leber congenital amaurosis [RCV001277518] Chr1:197328830 [GRCh38]
Chr1:197297960 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.515G>T (p.Cys172Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV001964449] Chr1:197328866 [GRCh38]
Chr1:197297996 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2024G>A (p.Trp675Ter) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257863]|Leber congenital amaurosis 8 [RCV001332031] Chr1:197421852 [GRCh38]
Chr1:197390982 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2701G>T (p.Val901Phe) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257866] Chr1:197429473 [GRCh38]
Chr1:197398603 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala) single nucleotide variant Inborn genetic diseases [RCV003166732]|Leber congenital amaurosis 8 [RCV003449869]|Leber congenital amaurosis [RCV001835479]|Pigmented paravenous retinochoroidal atrophy [RCV003449870]|Retinitis pigmentosa 12 [RCV001305370]|Retinitis pigmentosa 12 [RCV003449868] Chr1:197421278 [GRCh38]
Chr1:197390408 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3209G>T (p.Ser1070Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV001307305] Chr1:197435072 [GRCh38]
Chr1:197404202 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2930C>A (p.Thr977Lys) single nucleotide variant Leber congenital amaurosis [RCV001835525]|Retinitis pigmentosa 12 [RCV001309982] Chr1:197434793 [GRCh38]
Chr1:197403923 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3563A>G (p.His1188Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001317283] Chr1:197435426 [GRCh38]
Chr1:197404556 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3521G>A (p.Cys1174Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001350845] Chr1:197435384 [GRCh38]
Chr1:197404514 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3996C>G (p.Cys1332Trp) single nucleotide variant Retinitis pigmentosa 12 [RCV001305823] Chr1:197442283 [GRCh38]
Chr1:197411413 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2842+1delinsAA indel Retinitis pigmentosa 12 [RCV001290091] Chr1:197429615 [GRCh38]
Chr1:197398745 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4136A>C (p.Tyr1379Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001351039] Chr1:197477794 [GRCh38]
Chr1:197446924 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1660G>T (p.Val554Leu) single nucleotide variant Leber congenital amaurosis [RCV001835511]|Retinitis pigmentosa 12 [RCV001308840] Chr1:197421488 [GRCh38]
Chr1:197390618 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu) single nucleotide variant Leber congenital amaurosis [RCV001831074]|Retinitis pigmentosa 12 [RCV001341742] Chr1:197435500 [GRCh38]
Chr1:197404630 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3583G>T (p.Val1195Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV001303238] Chr1:197435446 [GRCh38]
Chr1:197404576 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) single nucleotide variant Leber congenital amaurosis 8 [RCV003449986]|Leber congenital amaurosis [RCV001831168]|Pigmented paravenous retinochoroidal atrophy [RCV003449987]|Retinitis pigmentosa 12 [RCV001351185]|Retinitis pigmentosa 12 [RCV001376284] Chr1:197435066 [GRCh38]
Chr1:197404196 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp) single nucleotide variant Leber congenital amaurosis [RCV001825890]|Retinitis pigmentosa 12 [RCV001343015] Chr1:197438653 [GRCh38]
Chr1:197407783 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.355T>G (p.Cys119Gly) single nucleotide variant Leber congenital amaurosis 8 [RCV003449890]|Pigmented paravenous retinochoroidal atrophy [RCV003449891]|Retinitis pigmentosa 12 [RCV001312459]|Retinitis pigmentosa 12 [RCV003449889]|not provided [RCV001664820] Chr1:197328706 [GRCh38]
Chr1:197297836 [GRCh37]
Chr1:1q31.3
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NM_201253.3(CRB1):c.2057G>A (p.Arg686His) single nucleotide variant Retinitis pigmentosa 12 [RCV001303910] Chr1:197421885 [GRCh38]
Chr1:197391015 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3879-4G>T single nucleotide variant Retinitis pigmentosa 12 [RCV001392082] Chr1:197442162 [GRCh38]
Chr1:197411292 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1636A>G (p.Ile546Val) single nucleotide variant Leber congenital amaurosis [RCV001830382]|Retinitis pigmentosa 12 [RCV001326448] Chr1:197421464 [GRCh38]
Chr1:197390594 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr) single nucleotide variant Leber congenital amaurosis [RCV001835564]|Retinitis pigmentosa 12 [RCV001315672] Chr1:197434826 [GRCh38]
Chr1:197403956 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu) single nucleotide variant Leber congenital amaurosis [RCV001831324]|Retinitis pigmentosa 12 [RCV001373232] Chr1:197356882 [GRCh38]
Chr1:197326012 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1696G>T (p.Glu566Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001376347] Chr1:197421524 [GRCh38]
Chr1:197390654 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1268G>A (p.Cys423Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001376350] Chr1:197421096 [GRCh38]
Chr1:197390226 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3285G>C (p.Gly1095=) single nucleotide variant Retinitis pigmentosa 12 [RCV001415157] Chr1:197435148 [GRCh38]
Chr1:197404278 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4166C>T (p.Ser1389Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV001361433] Chr1:197477824 [GRCh38]
Chr1:197446954 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2486T>A (p.Val829Asp) single nucleotide variant not provided [RCV001812307] Chr1:197427811 [GRCh38]
Chr1:197396941 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2767G>T (p.Glu923Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001382442] Chr1:197429539 [GRCh38]
Chr1:197398669 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2914G>C (p.Glu972Gln) single nucleotide variant Retinitis pigmentosa 12 [RCV001374273] Chr1:197434777 [GRCh38]
Chr1:197403907 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4059C>T (p.Val1353=) single nucleotide variant Retinitis pigmentosa 12 [RCV001396774] Chr1:197477717 [GRCh38]
Chr1:197446847 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.24C>T (p.Tyr8=) single nucleotide variant Retinitis pigmentosa 12 [RCV001414720] Chr1:197268436 [GRCh38]
Chr1:197237566 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3243T>C (p.Tyr1081=) single nucleotide variant Retinitis pigmentosa 12 [RCV001414488] Chr1:197435106 [GRCh38]
Chr1:197404236 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2043T>G (p.Cys681Trp) single nucleotide variant Retinitis pigmentosa 12 [RCV001376196] Chr1:197421871 [GRCh38]
Chr1:197391001 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.70+7C>T single nucleotide variant Retinitis pigmentosa 12 [RCV001397219] Chr1:197268489 [GRCh38]
Chr1:197237619 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV001376384]|Retinitis pigmentosa 12 [RCV001865898] Chr1:197421750 [GRCh38]
Chr1:197390880 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.592G>A (p.Glu198Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV001370424] Chr1:197328943 [GRCh38]
Chr1:197298073 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1027T>C (p.Cys343Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001376475] Chr1:197356869 [GRCh38]
Chr1:197325999 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4169G>A (p.Arg1390Gln) single nucleotide variant Leber congenital amaurosis [RCV001835573]|Retinitis pigmentosa 12 [RCV001316727] Chr1:197477827 [GRCh38]
Chr1:197446957 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp) single nucleotide variant Inborn genetic diseases [RCV002541894]|Leber congenital amaurosis 8 [RCV001333738]|Leber congenital amaurosis [RCV001835424]|Pigmented paravenous retinochoroidal atrophy [RCV003449855]|Retinitis pigmentosa 12 [RCV001299484]|Retinitis pigmentosa 12 [RCV003449854] Chr1:197477821 [GRCh38]
Chr1:197446951 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4000G>A (p.Val1334Met) single nucleotide variant Leber congenital amaurosis [RCV001835467]|Retinitis pigmentosa 12 [RCV001304046] Chr1:197442287 [GRCh38]
Chr1:197411417 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2927T>C (p.Ile976Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV001359699] Chr1:197434790 [GRCh38]
Chr1:197403920 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) deletion Leber congenital amaurosis 8 [RCV003450041]|Retinitis pigmentosa 12 [RCV001376472]|Retinitis pigmentosa 12 [RCV002550238] Chr1:197442183 [GRCh38]
Chr1:197411313 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2560G>T (p.Asp854Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001376473] Chr1:197427885 [GRCh38]
Chr1:197397015 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr) single nucleotide variant Leber congenital amaurosis [RCV001831201]|Retinitis pigmentosa 12 [RCV001360437] Chr1:197477701 [GRCh38]
Chr1:197446831 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3134del (p.Leu1045fs) deletion Retinitis pigmentosa 12 [RCV001383015] Chr1:197434997 [GRCh38]
Chr1:197404127 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3375T>A (p.Phe1125Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV001294434] Chr1:197435238 [GRCh38]
Chr1:197404368 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2696G>T (p.Gly899Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001349499] Chr1:197429468 [GRCh38]
Chr1:197398598 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2363T>G (p.Leu788Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001376197] Chr1:197427688 [GRCh38]
Chr1:197396818 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.18del (p.Asn7fs) deletion Retinitis pigmentosa 12 [RCV001376225] Chr1:197268429 [GRCh38]
Chr1:197237559 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.510C>T (p.Tyr170=) single nucleotide variant Retinitis pigmentosa 12 [RCV001392795] Chr1:197328861 [GRCh38]
Chr1:197297991 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.849-231C>G single nucleotide variant not provided [RCV001539003] Chr1:197347109 [GRCh38]
Chr1:197316239 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.848+4C>G single nucleotide variant Retinitis pigmentosa 12 [RCV001322737] Chr1:197344480 [GRCh38]
Chr1:197313610 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn) single nucleotide variant Leber congenital amaurosis [RCV001831247]|Retinitis pigmentosa 12 [RCV001364053] Chr1:197344373 [GRCh38]
Chr1:197313503 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3007A>T (p.Ile1003Phe) single nucleotide variant Leber congenital amaurosis 8 [RCV003449980]|Pigmented paravenous retinochoroidal atrophy [RCV003449981]|Retinitis pigmentosa 12 [RCV001350816]|Retinitis pigmentosa 12 [RCV003449979]|not provided [RCV001555331] Chr1:197434870 [GRCh38]
Chr1:197404000 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.176C>T (p.Thr59Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV001369078] Chr1:197328527 [GRCh38]
Chr1:197297657 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2298G>A (p.Trp766Ter) single nucleotide variant CRB1-related maculopathy [RCV001352964] Chr1:197427623 [GRCh38]
Chr1:197396753 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2687G>C (p.Cys896Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV001352987] Chr1:197429459 [GRCh38]
Chr1:197398589 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup) duplication Leber congenital amaurosis [RCV001830297]|Retinitis pigmentosa 12 [RCV001315761] Chr1:197442258..197442259 [GRCh38]
Chr1:197411388..197411389 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn) single nucleotide variant Leber congenital amaurosis [RCV001836300]|Retinitis pigmentosa 12 [RCV001318707] Chr1:197328596 [GRCh38]
Chr1:197297726 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.407G>T (p.Cys136Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV001343891] Chr1:197328758 [GRCh38]
Chr1:197297888 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.988+10A>T single nucleotide variant Leber congenital amaurosis [RCV001277519] Chr1:197347489 [GRCh38]
Chr1:197316619 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn) single nucleotide variant Inborn genetic diseases [RCV003166908]|Leber congenital amaurosis [RCV001831005]|Retinitis pigmentosa 12 [RCV001325558] Chr1:197421861 [GRCh38]
Chr1:197390991 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2815T>C (p.Cys939Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001316680] Chr1:197429587 [GRCh38]
Chr1:197398717 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn) single nucleotide variant Leber congenital amaurosis [RCV001825922]|Retinitis pigmentosa 12 [RCV001346099] Chr1:197435546 [GRCh38]
Chr1:197404676 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1933G>T (p.Asp645Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001374074] Chr1:197421761 [GRCh38]
Chr1:197390891 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3686G>C (p.Cys1229Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV003473873]|Retinitis pigmentosa 12 [RCV001350386] Chr1:197435549 [GRCh38]
Chr1:197404679 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.1910C>T (p.Pro637Leu) single nucleotide variant Leber congenital amaurosis 8 [RCV003449922]|Pigmented paravenous retinochoroidal atrophy [RCV003449923]|Retinitis pigmentosa 12 [RCV001322219]|Retinitis pigmentosa 12 [RCV003449921]|not provided [RCV001760407] Chr1:197421738 [GRCh38]
Chr1:197390868 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3853T>C (p.Cys1285Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001323343] Chr1:197438650 [GRCh38]
Chr1:197407780 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu) single nucleotide variant Leber congenital amaurosis [RCV001831071]|Retinitis pigmentosa 12 [RCV001341279] Chr1:197434752 [GRCh38]
Chr1:197403882 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg) single nucleotide variant Inborn genetic diseases [RCV002543852]|Leber congenital amaurosis 8 [RCV003449929]|Leber congenital amaurosis [RCV001830979]|Pigmented paravenous retinochoroidal atrophy [RCV003449930]|Retinitis pigmentosa 12 [RCV001323476]|Retinitis pigmentosa 12 [RCV003449928] Chr1:197477815 [GRCh38]
Chr1:197446945 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1637T>C (p.Ile546Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV001347732] Chr1:197421465 [GRCh38]
Chr1:197390595 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg) single nucleotide variant Leber congenital amaurosis [RCV001831169]|Retinitis pigmentosa 12 [RCV001351464] Chr1:197435206 [GRCh38]
Chr1:197404336 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1522T>C (p.Cys508Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001343048] Chr1:197421350 [GRCh38]
Chr1:197390480 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.2179T>C (p.Phe727Leu) single nucleotide variant not provided [RCV001312118] Chr1:197427504 [GRCh38]
Chr1:197396634 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.239A>T (p.Gln80Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV001343065] Chr1:197328590 [GRCh38]
Chr1:197297720 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser) single nucleotide variant Leber congenital amaurosis [RCV001835612]|Retinitis pigmentosa 12 [RCV001321169] Chr1:197421894 [GRCh38]
Chr1:197391024 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2951A>C (p.Asp984Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV001362223] Chr1:197434814 [GRCh38]
Chr1:197403944 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.635G>T (p.Cys212Phe) single nucleotide variant Leber congenital amaurosis 8 [RCV003450016]|Pigmented paravenous retinochoroidal atrophy [RCV002488116]|Pigmented paravenous retinochoroidal atrophy [RCV003450017]|Retinitis pigmentosa 12 [RCV001363729]|Retinitis pigmentosa 12 [RCV003450015] Chr1:197328986 [GRCh38]
Chr1:197298116 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn) single nucleotide variant Leber congenital amaurosis [RCV001826027]|Retinitis pigmentosa 12 [RCV001363860] Chr1:197435113 [GRCh38]
Chr1:197404243 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2051G>A (p.Arg684Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV001364438] Chr1:197421879 [GRCh38]
Chr1:197391009 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser) single nucleotide variant Leber congenital amaurosis [RCV001836296]|Retinitis pigmentosa 12 [RCV001317452] Chr1:197427729 [GRCh38]
Chr1:197396859 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3282A>T (p.Gln1094His) single nucleotide variant Retinitis pigmentosa 12 [RCV001362540] Chr1:197435145 [GRCh38]
Chr1:197404275 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu) single nucleotide variant Leber congenital amaurosis [RCV001835489]|Retinitis pigmentosa 12 [RCV001306327] Chr1:197427928 [GRCh38]
Chr1:197397058 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile) single nucleotide variant Leber congenital amaurosis [RCV001831297]|Retinitis pigmentosa 12 [RCV001370883] Chr1:197434772 [GRCh38]
Chr1:197403902 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2647C>A (p.Gln883Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV001366462] Chr1:197427972 [GRCh38]
Chr1:197397102 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.763C>T (p.Leu255=) single nucleotide variant Leber congenital amaurosis [RCV001831460]|Retinitis pigmentosa 12 [RCV001413789] Chr1:197344391 [GRCh38]
Chr1:197313521 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.42C>G (p.Leu14=) single nucleotide variant Retinitis pigmentosa 12 [RCV001421805] Chr1:197268454 [GRCh38]
Chr1:197237584 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.809C>G (p.Pro270Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001340894] Chr1:197344437 [GRCh38]
Chr1:197313567 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2403G>A (p.Lys801=) single nucleotide variant Leber congenital amaurosis [RCV001277521]|Retinitis pigmentosa 12 [RCV001496545] Chr1:197427728 [GRCh38]
Chr1:197396858 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.2522C>T (p.Thr841Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV001367251] Chr1:197427847 [GRCh38]
Chr1:197396977 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2421G>C (p.Leu807=) single nucleotide variant Retinitis pigmentosa 12 [RCV001396383] Chr1:197427746 [GRCh38]
Chr1:197396876 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) single nucleotide variant Cone-rod dystrophy [RCV003324562]|Leber congenital amaurosis 8 [RCV003450009]|Pigmented paravenous retinochoroidal atrophy [RCV003450010]|Retinitis pigmentosa 12 [RCV001360674]|Retinitis pigmentosa 12 [RCV003450008] Chr1:197434843 [GRCh38]
Chr1:197403973 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2223G>A (p.Met741Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV001327036] Chr1:197427548 [GRCh38]
Chr1:197396678 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.1783G>C (p.Ala595Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV001365443] Chr1:197421611 [GRCh38]
Chr1:197390741 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile) single nucleotide variant Leber congenital amaurosis [RCV001831017]|Retinitis pigmentosa 12 [RCV001326564] Chr1:197421690 [GRCh38]
Chr1:197390820 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2137G>A (p.Ala713Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV001365735] Chr1:197427462 [GRCh38]
Chr1:197396592 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2118C>T (p.Asn706=) single nucleotide variant Retinitis pigmentosa 12 [RCV001450181] Chr1:197421946 [GRCh38]
Chr1:197391076 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.579T>C (p.Asp193=) single nucleotide variant Leber congenital amaurosis 8 [RCV003451705]|Pigmented paravenous retinochoroidal atrophy [RCV003451706]|Retinitis pigmentosa 12 [RCV001395372]|Retinitis pigmentosa 12 [RCV003451704]|not provided [RCV003222318] Chr1:197328930 [GRCh38]
Chr1:197298060 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.631dup (p.Ile211fs) duplication Leber congenital amaurosis 8 [RCV001333739] Chr1:197328981..197328982 [GRCh38]
Chr1:197298111..197298112 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1577G>A (p.Arg526Gln) single nucleotide variant Retinitis pigmentosa 12 [RCV001366025] Chr1:197421405 [GRCh38]
Chr1:197390535 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2106T>C (p.Tyr702=) single nucleotide variant Retinitis pigmentosa 12 [RCV001472962] Chr1:197421934 [GRCh38]
Chr1:197391064 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2166T>C (p.Thr722=) single nucleotide variant Retinitis pigmentosa 12 [RCV001492115] Chr1:197427491 [GRCh38]
Chr1:197396621 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1770A>G (p.Lys590=) single nucleotide variant Retinitis pigmentosa 12 [RCV001485487] Chr1:197421598 [GRCh38]
Chr1:197390728 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.75C>T (p.Ser25=) single nucleotide variant Retinitis pigmentosa 12 [RCV001416754] Chr1:197328426 [GRCh38]
Chr1:197297556 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1875T>G (p.Val625=) single nucleotide variant Retinitis pigmentosa 12 [RCV001492353] Chr1:197421703 [GRCh38]
Chr1:197390833 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3717C>T (p.Leu1239=) single nucleotide variant Retinitis pigmentosa 12 [RCV001435576] Chr1:197435580 [GRCh38]
Chr1:197404710 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=) single nucleotide variant Leber congenital amaurosis [RCV001826314]|Retinitis pigmentosa 12 [RCV001481885] Chr1:197427611 [GRCh38]
Chr1:197396741 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1947T>C (p.Asp649=) single nucleotide variant Retinitis pigmentosa 12 [RCV001465345] Chr1:197421775 [GRCh38]
Chr1:197390905 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3393T>C (p.Asn1131=) single nucleotide variant Retinitis pigmentosa 12 [RCV001458211] Chr1:197435256 [GRCh38]
Chr1:197404386 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.849-10T>C single nucleotide variant Retinitis pigmentosa 12 [RCV001458413] Chr1:197347330 [GRCh38]
Chr1:197316460 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1189G>C (p.Asp397His) single nucleotide variant Retinitis pigmentosa 12 [RCV001478586] Chr1:197421017 [GRCh38]
Chr1:197390147 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1690G>A (p.Asp564Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV001377887] Chr1:197421518 [GRCh38]
Chr1:197390648 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2268A>G (p.Glu756=) single nucleotide variant Retinitis pigmentosa 12 [RCV001504728] Chr1:197427593 [GRCh38]
Chr1:197396723 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3231T>C (p.Asn1077=) single nucleotide variant Retinitis pigmentosa 12 [RCV001473523] Chr1:197435094 [GRCh38]
Chr1:197404224 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1700G>A (p.Trp567Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001387606] Chr1:197421528 [GRCh38]
Chr1:197390658 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1128T>C (p.His376=) single nucleotide variant Retinitis pigmentosa 12 [RCV001430656] Chr1:197356970 [GRCh38]
Chr1:197326100 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3909T>C (p.Ser1303=) single nucleotide variant Retinitis pigmentosa 12 [RCV001441561] Chr1:197442196 [GRCh38]
Chr1:197411326 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1233T>A (p.Thr411=) single nucleotide variant Retinitis pigmentosa 12 [RCV001425049] Chr1:197421061 [GRCh38]
Chr1:197390191 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2818C>T (p.Gln940Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001385188] Chr1:197429590 [GRCh38]
Chr1:197398720 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.699T>C (p.Cys233=) single nucleotide variant Retinitis pigmentosa 12 [RCV001484527] Chr1:197344327 [GRCh38]
Chr1:197313457 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3220T>C (p.Leu1074=) single nucleotide variant Retinitis pigmentosa 12 [RCV001504942] Chr1:197435083 [GRCh38]
Chr1:197404213 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3915G>A (p.Pro1305=) single nucleotide variant Retinitis pigmentosa 12 [RCV001470676] Chr1:197442202 [GRCh38]
Chr1:197411332 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2574C>T (p.Asn858=) single nucleotide variant Retinitis pigmentosa 12 [RCV001491095] Chr1:197427899 [GRCh38]
Chr1:197397029 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1299T>C (p.Tyr433=) single nucleotide variant Retinitis pigmentosa 12 [RCV001491112] Chr1:197421127 [GRCh38]
Chr1:197390257 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-13dup duplication Retinitis pigmentosa 12 [RCV001510840] Chr1:197328404..197328405 [GRCh38]
Chr1:197297534..197297535 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.3297A>G (p.Thr1099=) single nucleotide variant Retinitis pigmentosa 12 [RCV001478919] Chr1:197435160 [GRCh38]
Chr1:197404290 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3408C>A (p.Gly1136=) single nucleotide variant Retinitis pigmentosa 12 [RCV001469008] Chr1:197435271 [GRCh38]
Chr1:197404401 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.483C>T (p.Ala161=) single nucleotide variant Retinitis pigmentosa 12 [RCV001459160] Chr1:197328834 [GRCh38]
Chr1:197297964 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3795T>C (p.Asn1265=) single nucleotide variant Retinitis pigmentosa 12 [RCV001402681] Chr1:197438592 [GRCh38]
Chr1:197407722 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4026C>T (p.Ser1342=) single nucleotide variant Retinitis pigmentosa 12 [RCV001441840] Chr1:197477684 [GRCh38]
Chr1:197446814 [GRCh37]
Chr1:1q31.3
likely benign
NC_000001.10:g.(?_196918585)_(197742062_?)del deletion Retinitis pigmentosa 12 [RCV001390231] Chr1:196918585..197742062 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1797T>C (p.Leu599=) single nucleotide variant Retinitis pigmentosa 12 [RCV001471365] Chr1:197421625 [GRCh38]
Chr1:197390755 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1989A>G (p.Ser663=) single nucleotide variant Retinitis pigmentosa 12 [RCV001476754] Chr1:197421817 [GRCh38]
Chr1:197390947 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1185A>G (p.Glu395=) single nucleotide variant Retinitis pigmentosa 12 [RCV001486463] Chr1:197421013 [GRCh38]
Chr1:197390143 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3493T>C (p.Cys1165Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001378741] Chr1:197435356 [GRCh38]
Chr1:197404486 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3534C>T (p.Ile1178=) single nucleotide variant Leber congenital amaurosis 8 [RCV003451718]|Pigmented paravenous retinochoroidal atrophy [RCV003451719]|Retinitis pigmentosa 12 [RCV001405495]|Retinitis pigmentosa 12 [RCV003451717]|not provided [RCV003416324] Chr1:197435397 [GRCh38]
Chr1:197404527 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2226T>C (p.Phe742=) single nucleotide variant Retinitis pigmentosa 12 [RCV001500162] Chr1:197427551 [GRCh38]
Chr1:197396681 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1227T>G (p.Gly409=) single nucleotide variant Retinitis pigmentosa 12 [RCV001500196] Chr1:197421055 [GRCh38]
Chr1:197390185 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.522T>C (p.Cys174=) single nucleotide variant Retinitis pigmentosa 12 [RCV001474283] Chr1:197328873 [GRCh38]
Chr1:197298003 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3810T>C (p.Asn1270=) single nucleotide variant Retinitis pigmentosa 12 [RCV001491529] Chr1:197438607 [GRCh38]
Chr1:197407737 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.744C>T (p.Cys248=) single nucleotide variant Retinitis pigmentosa 12 [RCV001476965] Chr1:197344372 [GRCh38]
Chr1:197313502 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2892A>G (p.Arg964=) single nucleotide variant Retinitis pigmentosa 12 [RCV001486646] Chr1:197434755 [GRCh38]
Chr1:197403885 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.848+9del deletion Retinitis pigmentosa 12 [RCV001515999] Chr1:197344482 [GRCh38]
Chr1:197313612 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.3564T>C (p.His1188=) single nucleotide variant Retinitis pigmentosa 12 [RCV001489062] Chr1:197435427 [GRCh38]
Chr1:197404557 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4104C>T (p.Val1368=) single nucleotide variant Retinitis pigmentosa 12 [RCV001491618] Chr1:197477762 [GRCh38]
Chr1:197446892 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.234C>T (p.Pro78=) single nucleotide variant Retinitis pigmentosa 12 [RCV001486771] Chr1:197328585 [GRCh38]
Chr1:197297715 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3105C>T (p.His1035=) single nucleotide variant Retinitis pigmentosa 12 [RCV001439663] Chr1:197434968 [GRCh38]
Chr1:197404098 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3276C>A (p.Gly1092=) single nucleotide variant Retinitis pigmentosa 12 [RCV001423396] Chr1:197435139 [GRCh38]
Chr1:197404269 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3099A>G (p.Thr1033=) single nucleotide variant Retinitis pigmentosa 12 [RCV001485507] Chr1:197434962 [GRCh38]
Chr1:197404092 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2637C>G (p.Val879=) single nucleotide variant Retinitis pigmentosa 12 [RCV001489271] Chr1:197427962 [GRCh38]
Chr1:197397092 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro) single nucleotide variant Leber congenital amaurosis 8 [RCV003451694]|Leber congenital amaurosis [RCV001831405]|Pigmented paravenous retinochoroidal atrophy [RCV002488213]|Pigmented paravenous retinochoroidal atrophy [RCV003451695]|Retinitis pigmentosa 12 [RCV001390796]|Retinitis pigmentosa 12 [RCV003451693] Chr1:197421659 [GRCh38]
Chr1:197390789 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3702T>C (p.Asn1234=) single nucleotide variant Retinitis pigmentosa 12 [RCV001397972] Chr1:197435565 [GRCh38]
Chr1:197404695 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1480C>T (p.Leu494=) single nucleotide variant Retinitis pigmentosa 12 [RCV001506019] Chr1:197421308 [GRCh38]
Chr1:197390438 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2646C>G (p.Thr882=) single nucleotide variant Retinitis pigmentosa 12 [RCV001487300] Chr1:197427971 [GRCh38]
Chr1:197397101 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.653-10T>G single nucleotide variant Retinitis pigmentosa 12 [RCV001470270] Chr1:197344271 [GRCh38]
Chr1:197313401 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1350T>C (p.Cys450=) single nucleotide variant Retinitis pigmentosa 12 [RCV001493255] Chr1:197421178 [GRCh38]
Chr1:197390308 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3325dup (p.Tyr1109fs) duplication Retinitis pigmentosa 12 [RCV001388639] Chr1:197435186..197435187 [GRCh38]
Chr1:197404316..197404317 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2610C>T (p.Asn870=) single nucleotide variant Retinitis pigmentosa 12 [RCV001393413] Chr1:197427935 [GRCh38]
Chr1:197397065 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1585A>C (p.Arg529=) single nucleotide variant Retinitis pigmentosa 12 [RCV001501155] Chr1:197421413 [GRCh38]
Chr1:197390543 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.486G>A (p.Val162=) single nucleotide variant Retinitis pigmentosa 12 [RCV001478462] Chr1:197328837 [GRCh38]
Chr1:197297967 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2105A>G (p.Tyr702Cys) single nucleotide variant Leber congenital amaurosis 8 [RCV003473900]|Retinitis pigmentosa 12 [RCV001377318] Chr1:197421933 [GRCh38]
Chr1:197391063 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3834G>A (p.Gln1278=) single nucleotide variant Retinitis pigmentosa 12 [RCV001471570] Chr1:197438631 [GRCh38]
Chr1:197407761 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3958C>T (p.Gln1320Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003473953]|Retinitis pigmentosa 12 [RCV001384585] Chr1:197442245 [GRCh38]
Chr1:197411375 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NC_000001.10:g.(?_197297542)_(197298143_?)del deletion Retinitis pigmentosa 12 [RCV001378971] Chr1:197297542..197298143 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.718C>T (p.Gln240Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001387134] Chr1:197344346 [GRCh38]
Chr1:197313476 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2055A>G (p.Gly685=) single nucleotide variant Retinitis pigmentosa 12 [RCV001411876] Chr1:197421883 [GRCh38]
Chr1:197391013 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.70+8T>C single nucleotide variant Retinitis pigmentosa 12 [RCV001420058] Chr1:197268490 [GRCh38]
Chr1:197237620 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2718G>A (p.Trp906Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003473939]|Retinitis pigmentosa 12 [RCV001382300] Chr1:197429490 [GRCh38]
Chr1:197398620 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3887del (p.Lys1296fs) deletion Retinitis pigmentosa 12 [RCV001386035] Chr1:197442171 [GRCh38]
Chr1:197411301 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2703T>A (p.Val901=) single nucleotide variant Retinitis pigmentosa 12 [RCV001419948] Chr1:197429475 [GRCh38]
Chr1:197398605 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2301A>G (p.Leu767=) single nucleotide variant Retinitis pigmentosa 12 [RCV001411893] Chr1:197427626 [GRCh38]
Chr1:197396756 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1236T>C (p.Cys412=) single nucleotide variant Retinitis pigmentosa 12 [RCV001446401] Chr1:197421064 [GRCh38]
Chr1:197390194 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2398A>G (p.Ile800Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001427799] Chr1:197427723 [GRCh38]
Chr1:197396853 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2842+7A>G single nucleotide variant Retinitis pigmentosa 12 [RCV001428849] Chr1:197429621 [GRCh38]
Chr1:197398751 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2367T>C (p.Asn789=) single nucleotide variant Retinitis pigmentosa 12 [RCV001409603] Chr1:197427692 [GRCh38]
Chr1:197396822 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.15C>T (p.Asn5=) single nucleotide variant Retinitis pigmentosa 12 [RCV001420063] Chr1:197268427 [GRCh38]
Chr1:197237557 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1305A>G (p.Gly435=) single nucleotide variant Retinitis pigmentosa 12 [RCV001425440] Chr1:197421133 [GRCh38]
Chr1:197390263 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2643A>G (p.Val881=) single nucleotide variant Retinitis pigmentosa 12 [RCV001407374] Chr1:197427968 [GRCh38]
Chr1:197397098 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1224T>C (p.Asn408=) single nucleotide variant Retinitis pigmentosa 12 [RCV001446712] Chr1:197421052 [GRCh38]
Chr1:197390182 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2128+1G>C single nucleotide variant Leber congenital amaurosis 8 [RCV003473917]|Retinitis pigmentosa 12 [RCV001379356] Chr1:197421957 [GRCh38]
Chr1:197391087 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1078_1081del (p.Glu360fs) deletion Retinitis pigmentosa 12 [RCV001381325] Chr1:197356919..197356922 [GRCh38]
Chr1:197326049..197326052 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs) duplication Leber congenital amaurosis 8 [RCV003450082]|Pigmented paravenous retinochoroidal atrophy [RCV002504649]|Pigmented paravenous retinochoroidal atrophy [RCV003450083]|Retinitis pigmentosa 12 [RCV001388311]|Retinitis pigmentosa 12 [RCV003450081] Chr1:197421568..197421569 [GRCh38]
Chr1:197390698..197390699 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.183T>C (p.Asn61=) single nucleotide variant Retinitis pigmentosa 12 [RCV001436573] Chr1:197328534 [GRCh38]
Chr1:197297664 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2472C>T (p.Ile824=) single nucleotide variant Retinitis pigmentosa 12 [RCV001407575] Chr1:197427797 [GRCh38]
Chr1:197396927 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4002G>A (p.Val1334=) single nucleotide variant Retinitis pigmentosa 12 [RCV001441807] Chr1:197442289 [GRCh38]
Chr1:197411419 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1998C>A (p.Val666=) single nucleotide variant Retinitis pigmentosa 12 [RCV001444293] Chr1:197421826 [GRCh38]
Chr1:197390956 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1944T>C (p.Ile648=) single nucleotide variant Retinitis pigmentosa 12 [RCV001407771] Chr1:197421772 [GRCh38]
Chr1:197390902 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.207C>T (p.Asn69=) single nucleotide variant Leber congenital amaurosis [RCV001832569]|Retinitis pigmentosa 12 [RCV001444407] Chr1:197328558 [GRCh38]
Chr1:197297688 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1172-1G>T single nucleotide variant Retinitis pigmentosa 12 [RCV001379001] Chr1:197420999 [GRCh38]
Chr1:197390129 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.4197C>T (p.Pro1399=) single nucleotide variant Retinitis pigmentosa 12 [RCV001428580] Chr1:197477855 [GRCh38]
Chr1:197446985 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2796G>A (p.Pro932=) single nucleotide variant Retinitis pigmentosa 12 [RCV001407901] Chr1:197429568 [GRCh38]
Chr1:197398698 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-2A>G single nucleotide variant Leber congenital amaurosis 8 [RCV003473913]|Leber congenital amaurosis [RCV001831365]|Retinitis pigmentosa 12 [RCV001379038] Chr1:197328420 [GRCh38]
Chr1:197297550 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.4125T>C (p.Thr1375=) single nucleotide variant Retinitis pigmentosa 12 [RCV001442131] Chr1:197477783 [GRCh38]
Chr1:197446913 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3603A>T (p.Thr1201=) single nucleotide variant Retinitis pigmentosa 12 [RCV001442185] Chr1:197435466 [GRCh38]
Chr1:197404596 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3168C>T (p.Asp1056=) single nucleotide variant Retinitis pigmentosa 12 [RCV001444673] Chr1:197435031 [GRCh38]
Chr1:197404161 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2843-10C>T single nucleotide variant Retinitis pigmentosa 12 [RCV001436286] Chr1:197434696 [GRCh38]
Chr1:197403826 [GRCh37]
Chr1:1q31.3
likely benign
NC_000001.10:g.(?_197407677)_(197411422_?)del deletion Retinitis pigmentosa 12 [RCV001390232] Chr1:197407677..197411422 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.10:g.(?_197297542)_(197326153_?)del deletion Retinitis pigmentosa 12 [RCV001390233] Chr1:197297542..197326153 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.10:g.(?_197404386)_197410804del deletion Retinitis pigmentosa 12 [RCV001390234]   pathogenic
NM_201253.3(CRB1):c.4086C>T (p.Ala1362=) single nucleotide variant Retinitis pigmentosa 12 [RCV001407966] Chr1:197477744 [GRCh38]
Chr1:197446874 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.123C>T (p.Asn41=) single nucleotide variant Retinitis pigmentosa 12 [RCV001410600] Chr1:197328474 [GRCh38]
Chr1:197297604 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2843-3dup duplication Leber congenital amaurosis 8 [RCV003446760]|Pigmented paravenous retinochoroidal atrophy [RCV002501525]|Pigmented paravenous retinochoroidal atrophy [RCV003446761]|Retinitis pigmentosa 12 [RCV001431178]|Retinitis pigmentosa 12 [RCV003446759] Chr1:197434701..197434702 [GRCh38]
Chr1:197403831..197403832 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2463G>A (p.Thr821=) single nucleotide variant Retinitis pigmentosa 12 [RCV001408210] Chr1:197427788 [GRCh38]
Chr1:197396918 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) deletion Leber congenital amaurosis 8 [RCV003450040]|Retinitis pigmentosa 12 [RCV001376285]|Retinitis pigmentosa 12 [RCV001380409]|not provided [RCV002293533] Chr1:197435290 [GRCh38]
Chr1:197404420 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001379460]|not specified [RCV003230670] Chr1:197421177 [GRCh38]
Chr1:197390307 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.962_966del (p.Asp321fs) deletion Retinitis pigmentosa 12 [RCV001388292] Chr1:197347453..197347457 [GRCh38]
Chr1:197316583..197316587 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3399G>T (p.Val1133=) single nucleotide variant Retinitis pigmentosa 12 [RCV001405971] Chr1:197435262 [GRCh38]
Chr1:197404392 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3132A>G (p.Pro1044=) single nucleotide variant Retinitis pigmentosa 12 [RCV001445059] Chr1:197434995 [GRCh38]
Chr1:197404125 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1767G>A (p.Glu589=) single nucleotide variant Retinitis pigmentosa 12 [RCV001447699] Chr1:197421595 [GRCh38]
Chr1:197390725 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3318T>C (p.Tyr1106=) single nucleotide variant Retinitis pigmentosa 12 [RCV001408278] Chr1:197435181 [GRCh38]
Chr1:197404311 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1818T>C (p.Cys606=) single nucleotide variant Retinitis pigmentosa 12 [RCV001408280] Chr1:197421646 [GRCh38]
Chr1:197390776 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4006-1G>T single nucleotide variant Leber congenital amaurosis 8 [RCV003446739]|Pigmented paravenous retinochoroidal atrophy [RCV002499822]|Pigmented paravenous retinochoroidal atrophy [RCV003446740]|Retinitis pigmentosa 12 [RCV001390944]|Retinitis pigmentosa 12 [RCV003446738] Chr1:197477663 [GRCh38]
Chr1:197446793 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2847T>A (p.Ile949=) single nucleotide variant Retinitis pigmentosa 12 [RCV001437986] Chr1:197434710 [GRCh38]
Chr1:197403840 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2865T>C (p.Asn955=) single nucleotide variant Retinitis pigmentosa 12 [RCV001404039] Chr1:197434728 [GRCh38]
Chr1:197403858 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.360A>G (p.Gln120=) single nucleotide variant Retinitis pigmentosa 12 [RCV001442959] Chr1:197328711 [GRCh38]
Chr1:197297841 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1439G>C (p.Cys480Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001378739] Chr1:197421267 [GRCh38]
Chr1:197390397 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1746A>G (p.Leu582=) single nucleotide variant Leber congenital amaurosis [RCV001831486]|Retinitis pigmentosa 12 [RCV001429688] Chr1:197421574 [GRCh38]
Chr1:197390704 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.901T>C (p.Leu301=) single nucleotide variant Retinitis pigmentosa 12 [RCV001424299] Chr1:197347392 [GRCh38]
Chr1:197316522 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1974C>T (p.Ile658=) single nucleotide variant Retinitis pigmentosa 12 [RCV001404192] Chr1:197421802 [GRCh38]
Chr1:197390932 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3282A>G (p.Gln1094=) single nucleotide variant Retinitis pigmentosa 12 [RCV001411479] Chr1:197435145 [GRCh38]
Chr1:197404275 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1011G>A (p.Glu337=) single nucleotide variant Retinitis pigmentosa 12 [RCV001448461] Chr1:197356853 [GRCh38]
Chr1:197325983 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1172-2A>G single nucleotide variant Retinitis pigmentosa 12 [RCV001377494] Chr1:197420998 [GRCh38]
Chr1:197390128 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2537G>A (p.Gly846Glu) single nucleotide variant Retinitis pigmentosa 12 [RCV001378912] Chr1:197427862 [GRCh38]
Chr1:197396992 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3486T>C (p.His1162=) single nucleotide variant Retinitis pigmentosa 12 [RCV001432164] Chr1:197435349 [GRCh38]
Chr1:197404479 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.996A>G (p.Thr332=) single nucleotide variant Retinitis pigmentosa 12 [RCV001432497] Chr1:197356838 [GRCh38]
Chr1:197325968 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2074C>T (p.Leu692=) single nucleotide variant Retinitis pigmentosa 12 [RCV001411817] Chr1:197421902 [GRCh38]
Chr1:197391032 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1707C>T (p.Phe569=) single nucleotide variant Retinitis pigmentosa 12 [RCV001411845] Chr1:197421535 [GRCh38]
Chr1:197390665 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3048C>T (p.Asn1016=) single nucleotide variant Retinitis pigmentosa 12 [RCV001489647] Chr1:197434911 [GRCh38]
Chr1:197404041 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.78T>C (p.Phe26=) single nucleotide variant Retinitis pigmentosa 12 [RCV001499057] Chr1:197328429 [GRCh38]
Chr1:197297559 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.678C>T (p.Asp226=) single nucleotide variant Retinitis pigmentosa 12 [RCV001506011] Chr1:197344306 [GRCh38]
Chr1:197313436 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer) deletion Leber congenital amaurosis 8 [RCV003451843]|Retinitis pigmentosa 12 [RCV002538607]|Retinitis pigmentosa 12 [RCV003451842]|not provided [RCV001682644] Chr1:197328485..197328486 [GRCh38]
Chr1:197297615..197297616 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3624T>C (p.Gly1208=) single nucleotide variant Retinitis pigmentosa 12 [RCV001481973] Chr1:197435487 [GRCh38]
Chr1:197404617 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3345T>C (p.Gly1115=) single nucleotide variant Retinitis pigmentosa 12 [RCV001457447] Chr1:197435208 [GRCh38]
Chr1:197404338 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-9T>A single nucleotide variant Retinitis pigmentosa 12 [RCV001495757] Chr1:197328413 [GRCh38]
Chr1:197297543 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2124G>A (p.Leu708=) single nucleotide variant Retinitis pigmentosa 12 [RCV001495894] Chr1:197421952 [GRCh38]
Chr1:197391082 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe) single nucleotide variant Leber congenital amaurosis 8 [RCV003451830]|Leber congenital amaurosis [RCV001827542]|Pigmented paravenous retinochoroidal atrophy [RCV003451831]|Retinitis pigmentosa 12 [RCV002579496]|Retinitis pigmentosa 12 [RCV003451829]|not provided [RCV001590607] Chr1:197347354 [GRCh38]
Chr1:197316484 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2628A>G (p.Pro876=) single nucleotide variant Retinitis pigmentosa 12 [RCV001469030] Chr1:197427953 [GRCh38]
Chr1:197397083 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2139A>G (p.Ala713=) single nucleotide variant Retinitis pigmentosa 12 [RCV001486344] Chr1:197427464 [GRCh38]
Chr1:197396594 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2634T>C (p.Leu878=) single nucleotide variant Retinitis pigmentosa 12 [RCV001502518] Chr1:197427959 [GRCh38]
Chr1:197397089 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.309T>C (p.Ser103=) single nucleotide variant Retinitis pigmentosa 12 [RCV001454968] Chr1:197328660 [GRCh38]
Chr1:197297790 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1161T>G (p.Pro387=) single nucleotide variant Retinitis pigmentosa 12 [RCV001486660] Chr1:197357003 [GRCh38]
Chr1:197326133 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1728G>A (p.Glu576=) single nucleotide variant Retinitis pigmentosa 12 [RCV001469829] Chr1:197421556 [GRCh38]
Chr1:197390686 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-135T>C single nucleotide variant not provided [RCV001651906] Chr1:197328287 [GRCh38]
Chr1:197297417 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.1659G>A (p.Lys553=) single nucleotide variant Retinitis pigmentosa 12 [RCV001497009] Chr1:197421487 [GRCh38]
Chr1:197390617 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3144C>T (p.Thr1048=) single nucleotide variant Retinitis pigmentosa 12 [RCV001455646] Chr1:197435007 [GRCh38]
Chr1:197404137 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.998del (p.Gly333fs) deletion Leber congenital amaurosis 8 [RCV001580685]|Retinitis pigmentosa 12 [RCV001580684] Chr1:197356839 [GRCh38]
Chr1:197325969 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2136G>A (p.Val712=) single nucleotide variant Retinitis pigmentosa 12 [RCV001501168] Chr1:197427461 [GRCh38]
Chr1:197396591 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-9T>C single nucleotide variant Retinitis pigmentosa 12 [RCV001466967] Chr1:197328413 [GRCh38]
Chr1:197297543 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2406A>T (p.Pro802=) single nucleotide variant Retinitis pigmentosa 12 [RCV001501528] Chr1:197427731 [GRCh38]
Chr1:197396861 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.711A>G (p.Ala237=) single nucleotide variant Retinitis pigmentosa 12 [RCV001478346] Chr1:197344339 [GRCh38]
Chr1:197313469 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2316A>G (p.Leu772=) single nucleotide variant Leber congenital amaurosis [RCV001832658]|Retinitis pigmentosa 12 [RCV001501586] Chr1:197427641 [GRCh38]
Chr1:197396771 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.652+3_652+6del deletion Retinitis pigmentosa 12 [RCV001377781] Chr1:197329004..197329007 [GRCh38]
Chr1:197298134..197298137 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3372A>G (p.Gln1124=) single nucleotide variant Retinitis pigmentosa 12 [RCV001394431] Chr1:197435235 [GRCh38]
Chr1:197404365 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3528C>G (p.Leu1176=) single nucleotide variant Retinitis pigmentosa 12 [RCV001439330] Chr1:197435391 [GRCh38]
Chr1:197404521 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.582C>A (p.Pro194=) single nucleotide variant Retinitis pigmentosa 12 [RCV001467123] Chr1:197328933 [GRCh38]
Chr1:197298063 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1191C>T (p.Asp397=) single nucleotide variant Retinitis pigmentosa 12 [RCV001485837] Chr1:197421019 [GRCh38]
Chr1:197390149 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2751A>G (p.Thr917=) single nucleotide variant Retinitis pigmentosa 12 [RCV001490594] Chr1:197429523 [GRCh38]
Chr1:197398653 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3876A>G (p.Glu1292=) single nucleotide variant Retinitis pigmentosa 12 [RCV001458270] Chr1:197438673 [GRCh38]
Chr1:197407803 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1974_1990del (p.Ser659fs) deletion Retinitis pigmentosa 12 [RCV001381291] Chr1:197421799..197421815 [GRCh38]
Chr1:197390929..197390945 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.609T>C (p.Asn203=) single nucleotide variant Retinitis pigmentosa 12 [RCV001477899] Chr1:197328960 [GRCh38]
Chr1:197298090 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4071G>A (p.Leu1357=) single nucleotide variant Retinitis pigmentosa 12 [RCV001501761] Chr1:197477729 [GRCh38]
Chr1:197446859 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.129T>A (p.Ser43=) single nucleotide variant Retinitis pigmentosa 12 [RCV001457064] Chr1:197328480 [GRCh38]
Chr1:197297610 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.102C>T (p.Cys34=) single nucleotide variant Retinitis pigmentosa 12 [RCV001467330] Chr1:197328453 [GRCh38]
Chr1:197297583 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3165G>A (p.Val1055=) single nucleotide variant Retinitis pigmentosa 12 [RCV001488179] Chr1:197435028 [GRCh38]
Chr1:197404158 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1737C>T (p.Thr579=) single nucleotide variant Retinitis pigmentosa 12 [RCV001488229] Chr1:197421565 [GRCh38]
Chr1:197390695 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2676+7A>T single nucleotide variant Retinitis pigmentosa 12 [RCV001468749] Chr1:197428008 [GRCh38]
Chr1:197397138 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3277C>T (p.Leu1093=) single nucleotide variant Retinitis pigmentosa 12 [RCV001431939] Chr1:197435140 [GRCh38]
Chr1:197404270 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4050A>C (p.Ser1350=) single nucleotide variant Retinitis pigmentosa 12 [RCV001465947] Chr1:197477708 [GRCh38]
Chr1:197446838 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1107G>A (p.Leu369=) single nucleotide variant Retinitis pigmentosa 12 [RCV001480274] Chr1:197356949 [GRCh38]
Chr1:197326079 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2352A>T (p.Val784=) single nucleotide variant Retinitis pigmentosa 12 [RCV001417537] Chr1:197427677 [GRCh38]
Chr1:197396807 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2968T>C (p.Leu990=) single nucleotide variant Retinitis pigmentosa 12 [RCV001392900] Chr1:197434831 [GRCh38]
Chr1:197403961 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2598A>G (p.Pro866=) single nucleotide variant Retinitis pigmentosa 12 [RCV001423368] Chr1:197427923 [GRCh38]
Chr1:197397053 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2493C>T (p.Tyr831=) single nucleotide variant Retinitis pigmentosa 12 [RCV001467743] Chr1:197427818 [GRCh38]
Chr1:197396948 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3471C>T (p.Ile1157=) single nucleotide variant Retinitis pigmentosa 12 [RCV001476537] Chr1:197435334 [GRCh38]
Chr1:197404464 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.849-2A>G single nucleotide variant Retinitis pigmentosa 12 [RCV001378415] Chr1:197347338 [GRCh38]
Chr1:197316468 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.885G>C (p.Gly295=) single nucleotide variant Retinitis pigmentosa 12 [RCV001436467] Chr1:197347376 [GRCh38]
Chr1:197316506 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.653-1G>A single nucleotide variant Leber congenital amaurosis 8 [RCV003319471]|Retinitis pigmentosa 12 [RCV001380026]|Retinitis pigmentosa 12 [RCV001587386] Chr1:197344280 [GRCh38]
Chr1:197313410 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1612C>T (p.Leu538=) single nucleotide variant Retinitis pigmentosa 12 [RCV001432552] Chr1:197421440 [GRCh38]
Chr1:197390570 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4006-1G>C single nucleotide variant Retinitis pigmentosa 12 [RCV001376938] Chr1:197477663 [GRCh38]
Chr1:197446793 [GRCh37]
Chr1:1q31.3
likely pathogenic
NC_000001.10:g.(?_197325951)_(197326153_?)del deletion Retinitis pigmentosa 12 [RCV001378972] Chr1:197325951..197326153 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1833C>T (p.Ser611=) single nucleotide variant Retinitis pigmentosa 12 [RCV001423502] Chr1:197421661 [GRCh38]
Chr1:197390791 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2942_2943del (p.Arg981fs) deletion Retinitis pigmentosa 12 [RCV001380183] Chr1:197434804..197434805 [GRCh38]
Chr1:197403934..197403935 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3585T>C (p.Val1195=) single nucleotide variant Retinitis pigmentosa 12 [RCV001440967] Chr1:197435448 [GRCh38]
Chr1:197404578 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.54G>A (p.Leu18=) single nucleotide variant Retinitis pigmentosa 12 [RCV001416201] Chr1:197268466 [GRCh38]
Chr1:197237596 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.753C>T (p.Ala251=) single nucleotide variant Retinitis pigmentosa 12 [RCV001415933] Chr1:197344381 [GRCh38]
Chr1:197313511 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.770dup (p.Asp257fs) duplication Retinitis pigmentosa 12 [RCV001389589] Chr1:197344397..197344398 [GRCh38]
Chr1:197313527..197313528 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2652C>A (p.Gly884=) single nucleotide variant Retinitis pigmentosa 12 [RCV001483840] Chr1:197427977 [GRCh38]
Chr1:197397107 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1161T>C (p.Pro387=) single nucleotide variant Retinitis pigmentosa 12 [RCV001404927] Chr1:197357003 [GRCh38]
Chr1:197326133 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2630_2631dup (p.Leu878fs) duplication Leber congenital amaurosis 8 [RCV001526716] Chr1:197427954..197427955 [GRCh38]
Chr1:197397084..197397085 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.552C>T (p.Asp184=) single nucleotide variant Retinitis pigmentosa 12 [RCV001501131] Chr1:197328903 [GRCh38]
Chr1:197298033 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1651C>T (p.Gln551Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003473963]|Retinitis pigmentosa 12 [RCV001386224] Chr1:197421479 [GRCh38]
Chr1:197390609 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3860del (p.Pro1287fs) deletion Retinitis pigmentosa 12 [RCV001384351] Chr1:197438656 [GRCh38]
Chr1:197407786 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2931A>G (p.Thr977=) single nucleotide variant Retinitis pigmentosa 12 [RCV001437204] Chr1:197434794 [GRCh38]
Chr1:197403924 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2175C>A (p.Val725=) single nucleotide variant Retinitis pigmentosa 12 [RCV001463713] Chr1:197427500 [GRCh38]
Chr1:197396630 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1812A>G (p.Ser604=) single nucleotide variant Retinitis pigmentosa 12 [RCV001501192] Chr1:197421640 [GRCh38]
Chr1:197390770 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2478G>A (p.Lys826=) single nucleotide variant Retinitis pigmentosa 12 [RCV001456525] Chr1:197427803 [GRCh38]
Chr1:197396933 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4005+1G>C single nucleotide variant Retinitis pigmentosa 12 [RCV001387814] Chr1:197442293 [GRCh38]
Chr1:197411423 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1431G>T (p.Gly477=) single nucleotide variant Retinitis pigmentosa 12 [RCV001501466] Chr1:197421259 [GRCh38]
Chr1:197390389 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2344T>G (p.Leu782Val) single nucleotide variant Retinitis pigmentosa 12 [RCV003104792] Chr1:197427669 [GRCh38]
Chr1:197396799 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2118del (p.Cys707fs) deletion not provided [RCV001726774] Chr1:197421946 [GRCh38]
Chr1:197391076 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.104T>C (p.Leu35Pro) single nucleotide variant not provided [RCV002273428] Chr1:197328455 [GRCh38]
Chr1:197297585 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3221T>C (p.Leu1074Ser) single nucleotide variant Pigmented paravenous retinochoroidal atrophy [RCV001771820]|Retinitis pigmentosa 12 [RCV001885124] Chr1:197435084 [GRCh38]
Chr1:197404214 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.997G>C (p.Gly333Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV003451871]|Retinitis pigmentosa 12 [RCV001733784]|Retinitis pigmentosa 12 [RCV001861045] Chr1:197356839 [GRCh38]
Chr1:197325969 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2573A>G (p.Asn858Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001733783] Chr1:197427898 [GRCh38]
Chr1:197397028 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2540T>C (p.Phe847Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV001787307] Chr1:197427865 [GRCh38]
Chr1:197396995 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3091G>A (p.Asp1031Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV002539930]|not provided [RCV001752298] Chr1:197434954 [GRCh38]
Chr1:197404084 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.893G>C (p.Cys298Ser) single nucleotide variant not provided [RCV001768601] Chr1:197347384 [GRCh38]
Chr1:197316514 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1235G>T (p.Cys412Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV001808845] Chr1:197421063 [GRCh38]
Chr1:197390193 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3070del (p.Thr1024fs) deletion Retinitis pigmentosa 12 [RCV001808102] Chr1:197434933 [GRCh38]
Chr1:197404063 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.548G>A (p.Cys183Tyr) single nucleotide variant Abnormality of the eye [RCV001814385] Chr1:197328899 [GRCh38]
Chr1:197298029 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1604_1607dup (p.Glu536fs) duplication Retinitis pigmentosa 12 [RCV001808918] Chr1:197421431..197421432 [GRCh38]
Chr1:197390561..197390562 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.132dup (p.Cys45fs) duplication Leber congenital amaurosis 8 [RCV001808917] Chr1:197328482..197328483 [GRCh38]
Chr1:197297612..197297613 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.140A>G (p.Asp47Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV001889074] Chr1:197328491 [GRCh38]
Chr1:197297621 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.491A>G (p.Gln164Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001889164] Chr1:197328842 [GRCh38]
Chr1:197297972 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4046G>A (p.Gly1349Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV001926626] Chr1:197477704 [GRCh38]
Chr1:197446834 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1976C>T (p.Ser659Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV001950029] Chr1:197421804 [GRCh38]
Chr1:197390934 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2640T>G (p.Asn880Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV002009208] Chr1:197427965 [GRCh38]
Chr1:197397095 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.439A>G (p.Ile147Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001947324] Chr1:197328790 [GRCh38]
Chr1:197297920 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs) deletion Leber congenital amaurosis 8 [RCV003475197]|Retinitis pigmentosa 12 [RCV001985485] Chr1:197427827..197427830 [GRCh38]
Chr1:197396957..197396960 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2278T>A (p.Tyr760Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV001895720] Chr1:197427603 [GRCh38]
Chr1:197396733 [GRCh37]
Chr1:1q31.3
uncertain significance
NC_000001.10:g.(?_197446784)_(197447595_?)del deletion Retinitis pigmentosa 12 [RCV002007563] Chr1:197446784..197447595 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1339dup (p.His447fs) duplication Retinitis pigmentosa 12 [RCV001929407] Chr1:197421164..197421165 [GRCh38]
Chr1:197390294..197390295 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2462C>G (p.Thr821Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002025043] Chr1:197427787 [GRCh38]
Chr1:197396917 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn) single nucleotide variant Leber congenital amaurosis 8 [RCV003452182]|Pigmented paravenous retinochoroidal atrophy [RCV002503638]|Pigmented paravenous retinochoroidal atrophy [RCV003452183]|Retinitis pigmentosa 12 [RCV001929428]|Retinitis pigmentosa 12 [RCV003452181]|not provided [RCV003146370] Chr1:197421299 [GRCh38]
Chr1:197390429 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4176_4177del (p.Glu1392fs) deletion Retinitis pigmentosa 12 [RCV002045743] Chr1:197477833..197477834 [GRCh38]
Chr1:197446963..197446964 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3878+1G>A single nucleotide variant Retinitis pigmentosa 12 [RCV002020594] Chr1:197438676 [GRCh38]
Chr1:197407806 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.4106C>A (p.Thr1369Asn) single nucleotide variant Leber congenital amaurosis 8 [RCV003453918]|Pigmented paravenous retinochoroidal atrophy [RCV003453919]|Retinitis pigmentosa 12 [RCV002025443]|Retinitis pigmentosa 12 [RCV003453917]|not provided [RCV003146448] Chr1:197477764 [GRCh38]
Chr1:197446894 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3863G>A (p.Gly1288Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV001971616] Chr1:197438660 [GRCh38]
Chr1:197407790 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1337C>A (p.Thr446Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV001913951] Chr1:197421165 [GRCh38]
Chr1:197390295 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2327C>T (p.Thr776Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV001914740] Chr1:197427652 [GRCh38]
Chr1:197396782 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2274C>G (p.Ser758Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001950109] Chr1:197427599 [GRCh38]
Chr1:197396729 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2825T>C (p.Val942Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV001914521] Chr1:197429597 [GRCh38]
Chr1:197398727 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3749+2_3749+3del deletion Retinitis pigmentosa 12 [RCV002002933] Chr1:197435613..197435614 [GRCh38]
Chr1:197404743..197404744 [GRCh37]
Chr1:1q31.3
likely pathogenic
NC_000001.10:g.(?_196621248)_(197447009_?)dup duplication not provided [RCV001987816] Chr1:196621248..197447009 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1687A>G (p.Ser563Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV002045050] Chr1:197421515 [GRCh38]
Chr1:197390645 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1613T>A (p.Leu538Gln) single nucleotide variant Retinitis pigmentosa 12 [RCV002039726] Chr1:197421441 [GRCh38]
Chr1:197390571 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.768G>T (p.Gly256=) single nucleotide variant Retinitis pigmentosa 12 [RCV002045765] Chr1:197344396 [GRCh38]
Chr1:197313526 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
GRCh37/hg19 1q31.3(chr1:197202740-197266535) copy number gain not specified [RCV002053836] Chr1:197202740..197266535 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3928G>A (p.Gly1310Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001892807] Chr1:197442215 [GRCh38]
Chr1:197411345 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737) copy number loss not specified [RCV002053780] Chr1:179413479..201764737 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_201253.3(CRB1):c.2698G>A (p.Gly900Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001983137] Chr1:197429470 [GRCh38]
Chr1:197398600 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1152C>G (p.Ile384Met) single nucleotide variant Retinitis pigmentosa 12 [RCV001947592] Chr1:197356994 [GRCh38]
Chr1:197326124 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.872G>T (p.Ser291Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV002003746] Chr1:197347363 [GRCh38]
Chr1:197316493 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV003453932]|Pigmented paravenous retinochoroidal atrophy [RCV002492273]|Pigmented paravenous retinochoroidal atrophy [RCV003453933]|Retinitis pigmentosa 12 [RCV001986193]|Retinitis pigmentosa 12 [RCV003453931] Chr1:197438659 [GRCh38]
Chr1:197407789 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.470G>A (p.Cys157Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV002022116] Chr1:197328821 [GRCh38]
Chr1:197297951 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2150del (p.Gly717fs) deletion Retinitis pigmentosa 12 [RCV001946533] Chr1:197427474 [GRCh38]
Chr1:197396604 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.10:g.(?_197237324)_(197326153_?)del deletion Retinitis pigmentosa 12 [RCV001870887] Chr1:197237324..197326153 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2549G>T (p.Gly850Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001908346] Chr1:197427874 [GRCh38]
Chr1:197397004 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1538G>T (p.Arg513Met) single nucleotide variant Retinitis pigmentosa 12 [RCV001967436] Chr1:197421366 [GRCh38]
Chr1:197390496 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3643A>G (p.Ile1215Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001889636] Chr1:197435506 [GRCh38]
Chr1:197404636 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1100C>T (p.Thr367Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV001890168] Chr1:197356942 [GRCh38]
Chr1:197326072 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2842+2T>C single nucleotide variant Retinitis pigmentosa 12 [RCV002041452] Chr1:197429616 [GRCh38]
Chr1:197398746 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3923A>G (p.Asn1308Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002004730] Chr1:197442210 [GRCh38]
Chr1:197411340 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4006-18T>G single nucleotide variant Retinitis pigmentosa 12 [RCV002044182] Chr1:197477646 [GRCh38]
Chr1:197446776 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3325_3326del (p.Tyr1109fs) deletion Retinitis pigmentosa 12 [RCV001927726] Chr1:197435188..197435189 [GRCh38]
Chr1:197404318..197404319 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1896_1908del (p.Met633fs) deletion Retinitis pigmentosa 12 [RCV001914281] Chr1:197421723..197421735 [GRCh38]
Chr1:197390853..197390865 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3917G>A (p.Cys1306Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001968829] Chr1:197442204 [GRCh38]
Chr1:197411334 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.107C>A (p.Ser36Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001928503] Chr1:197328458 [GRCh38]
Chr1:197297588 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3440C>T (p.Pro1147Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV001966145] Chr1:197435303 [GRCh38]
Chr1:197404433 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.487T>G (p.Cys163Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV002006570] Chr1:197328838 [GRCh38]
Chr1:197297968 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.774C>A (p.His258Gln) single nucleotide variant Retinitis pigmentosa 12 [RCV001872947] Chr1:197344402 [GRCh38]
Chr1:197313532 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.565G>T (p.Glu189Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475151]|Retinitis pigmentosa 12 [RCV001912801] Chr1:197328916 [GRCh38]
Chr1:197298046 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1625T>C (p.Ile542Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV002020732] Chr1:197421453 [GRCh38]
Chr1:197390583 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.707G>A (p.Gly236Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV001987325] Chr1:197344335 [GRCh38]
Chr1:197313465 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2889C>G (p.Phe963Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV001968307] Chr1:197434752 [GRCh38]
Chr1:197403882 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2647del (p.Gln883fs) deletion Retinitis pigmentosa 12 [RCV002002484] Chr1:197427970 [GRCh38]
Chr1:197397100 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.864C>T (p.Cys288=) single nucleotide variant Retinitis pigmentosa 12 [RCV002004675] Chr1:197347355 [GRCh38]
Chr1:197316485 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.769G>T (p.Asp257Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001947551] Chr1:197344397 [GRCh38]
Chr1:197313527 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu) single nucleotide variant Leber congenital amaurosis 8 [RCV003453812]|Pigmented paravenous retinochoroidal atrophy [RCV002484690]|Pigmented paravenous retinochoroidal atrophy [RCV003453813]|Retinitis pigmentosa 12 [RCV001949008]|Retinitis pigmentosa 12 [RCV003453811] Chr1:197421583 [GRCh38]
Chr1:197390713 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4219T>C (p.Ter1407Gln) single nucleotide variant Retinitis pigmentosa 12 [RCV002043428] Chr1:197477877 [GRCh38]
Chr1:197447007 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3014A>G (p.Asp1005Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV001928419] Chr1:197434877 [GRCh38]
Chr1:197404007 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2821C>A (p.Pro941Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV001945637] Chr1:197429593 [GRCh38]
Chr1:197398723 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4027G>A (p.Asp1343Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV001968653] Chr1:197477685 [GRCh38]
Chr1:197446815 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3284G>A (p.Gly1095Glu) single nucleotide variant Retinitis pigmentosa 12 [RCV001870844] Chr1:197435147 [GRCh38]
Chr1:197404277 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1600A>G (p.Lys534Glu) single nucleotide variant Retinitis pigmentosa 12 [RCV002022710] Chr1:197421428 [GRCh38]
Chr1:197390558 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265) copy number loss not specified [RCV002053769] Chr1:179073386..200192265 [GRCh37]
Chr1:1q25.2-32.1
pathogenic
NM_201253.3(CRB1):c.467C>T (p.Pro156Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV001908209] Chr1:197328818 [GRCh38]
Chr1:197297948 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.683G>A (p.Cys228Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001946201] Chr1:197344311 [GRCh38]
Chr1:197313441 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2939T>A (p.Phe980Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV001966038] Chr1:197434802 [GRCh38]
Chr1:197403932 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.559G>A (p.Val187Met) single nucleotide variant Retinitis pigmentosa 12 [RCV001966126] Chr1:197328910 [GRCh38]
Chr1:197298040 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1430G>T (p.Gly477Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001969116] Chr1:197421258 [GRCh38]
Chr1:197390388 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2168G>T (p.Gly723Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001877383] Chr1:197427493 [GRCh38]
Chr1:197396623 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3001A>G (p.Ile1001Val) single nucleotide variant Retinitis pigmentosa 12 [RCV002050648] Chr1:197434864 [GRCh38]
Chr1:197403994 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3419T>A (p.Leu1140Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001944050] Chr1:197435282 [GRCh38]
Chr1:197404412 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2497G>T (p.Gly833Cys) single nucleotide variant Retinitis pigmentosa 12 [RCV001995245] Chr1:197427822 [GRCh38]
Chr1:197396952 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.404T>A (p.Ile135Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV001923782] Chr1:197328755 [GRCh38]
Chr1:197297885 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.666A>T (p.Glu222Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV002038504] Chr1:197344294 [GRCh38]
Chr1:197313424 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3988G>T (p.Glu1330Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475225]|Retinitis pigmentosa 12 [RCV001942337] Chr1:197442275 [GRCh38]
Chr1:197411405 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.10:g.(?_197446965)_(197449864_?)del deletion Retinitis pigmentosa 12 [RCV002035170] Chr1:197446965..197449864 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1042T>C (p.Cys348Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002010681] Chr1:197356884 [GRCh38]
Chr1:197326014 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2570dup (p.Asn858fs) duplication Retinitis pigmentosa 12 [RCV001941821] Chr1:197427894..197427895 [GRCh38]
Chr1:197397024..197397025 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2536G>A (p.Gly846Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001963012] Chr1:197427861 [GRCh38]
Chr1:197396991 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2252T>A (p.Leu751Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475209]|Retinitis pigmentosa 12 [RCV002035427] Chr1:197427577 [GRCh38]
Chr1:197396707 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2939T>G (p.Phe980Cys) single nucleotide variant Retinitis pigmentosa 12 [RCV002037130] Chr1:197434802 [GRCh38]
Chr1:197403932 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2377G>A (p.Val793Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV001918219] Chr1:197427702 [GRCh38]
Chr1:197396832 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1171+6G>A single nucleotide variant Retinitis pigmentosa 12 [RCV001888663] Chr1:197357019 [GRCh38]
Chr1:197326149 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2208C>T (p.Thr736=) single nucleotide variant Retinitis pigmentosa 12 [RCV002037816] Chr1:197427533 [GRCh38]
Chr1:197396663 [GRCh37]
Chr1:1q31.3
likely benign
NC_000001.10:g.(?_197390110)_(197398764_?)dup duplication Retinitis pigmentosa 12 [RCV001943325] Chr1:197390110..197398764 [GRCh37]
Chr1:1q31.3
uncertain significance
NC_000001.10:g.(?_197398094)_(197398754_?)del deletion Retinitis pigmentosa 12 [RCV001963075] Chr1:197398094..197398754 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.298C>T (p.Pro100Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001866670] Chr1:197328649 [GRCh38]
Chr1:197297779 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4163G>T (p.Gly1388Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001982490] Chr1:197477821 [GRCh38]
Chr1:197446951 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2651_2652delinsAT (p.Gly884Asp) indel Retinitis pigmentosa 12 [RCV002037391] Chr1:197427976..197427977 [GRCh38]
Chr1:197397106..197397107 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.733dup (p.Ala245fs) duplication Retinitis pigmentosa 12 [RCV001942102] Chr1:197344356..197344357 [GRCh38]
Chr1:197313486..197313487 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4142_4147del (p.Pro1381_Ser1382del) deletion Retinitis pigmentosa 12 [RCV001942524] Chr1:197477795..197477800 [GRCh38]
Chr1:197446925..197446930 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1026A>C (p.Glu342Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV001963528] Chr1:197356868 [GRCh38]
Chr1:197325998 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3384C>A (p.Ile1128=) single nucleotide variant Retinitis pigmentosa 12 [RCV001993185] Chr1:197435247 [GRCh38]
Chr1:197404377 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1738C>T (p.Leu580Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV002050250] Chr1:197421566 [GRCh38]
Chr1:197390696 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3929G>C (p.Gly1310Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV001955218] Chr1:197442216 [GRCh38]
Chr1:197411346 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1936A>C (p.Ile646Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV001956851] Chr1:197421764 [GRCh38]
Chr1:197390894 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2128G>A (p.Glu710Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV001961694] Chr1:197421956 [GRCh38]
Chr1:197391086 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.668dup (p.Leu223fs) duplication Retinitis pigmentosa 12 [RCV002000171] Chr1:197344294..197344295 [GRCh38]
Chr1:197313424..197313425 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4137C>G (p.Tyr1379Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001941693] Chr1:197477795 [GRCh38]
Chr1:197446925 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.652+1G>A single nucleotide variant Leber congenital amaurosis 8 [RCV003446979]|Pigmented paravenous retinochoroidal atrophy [RCV002246640]|Retinitis pigmentosa 12 [RCV002037978]|Retinitis pigmentosa 12 [RCV003446978] Chr1:197329004 [GRCh38]
Chr1:197298134 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.1057G>T (p.Glu353Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001943707] Chr1:197356899 [GRCh38]
Chr1:197326029 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3491C>T (p.Ser1164Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV001920227] Chr1:197435354 [GRCh38]
Chr1:197404484 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2849C>T (p.Ala950Val) single nucleotide variant Retinitis pigmentosa 12 [RCV002031989] Chr1:197434712 [GRCh38]
Chr1:197403842 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1520T>C (p.Val507Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV002016112] Chr1:197421348 [GRCh38]
Chr1:197390478 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.848+1G>A single nucleotide variant Leber congenital amaurosis 8 [RCV003475135]|Retinitis pigmentosa 12 [RCV001900241] Chr1:197344477 [GRCh38]
Chr1:197313607 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2752A>T (p.Ser918Cys) single nucleotide variant Retinitis pigmentosa 12 [RCV001930923]|not specified [RCV003479370] Chr1:197429524 [GRCh38]
Chr1:197398654 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1544A>T (p.Gln515Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV002031472] Chr1:197421372 [GRCh38]
Chr1:197390502 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1829A>G (p.Asn610Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002032065] Chr1:197421657 [GRCh38]
Chr1:197390787 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1468G>C (p.Gly490Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001903701] Chr1:197421296 [GRCh38]
Chr1:197390426 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4196C>T (p.Pro1399Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV001882231] Chr1:197477854 [GRCh38]
Chr1:197446984 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3085G>A (p.Val1029Met) single nucleotide variant Retinitis pigmentosa 12 [RCV001995640] Chr1:197434948 [GRCh38]
Chr1:197404078 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2867G>T (p.Gly956Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001900405] Chr1:197434730 [GRCh38]
Chr1:197403860 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3647A>G (p.Asp1216Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV001904387] Chr1:197435510 [GRCh38]
Chr1:197404640 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1348T>A (p.Cys450Ser) single nucleotide variant Leber congenital amaurosis 8 [RCV002250793]|Retinitis pigmentosa 12 [RCV001995121] Chr1:197421176 [GRCh38]
Chr1:197390306 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.65T>A (p.Ile22Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV001915622] Chr1:197268477 [GRCh38]
Chr1:197237607 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3482A>G (p.Tyr1161Cys) single nucleotide variant Retinitis pigmentosa 12 [RCV002010864] Chr1:197435345 [GRCh38]
Chr1:197404475 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3749+1G>A single nucleotide variant Retinitis pigmentosa 12 [RCV001991452] Chr1:197435613 [GRCh38]
Chr1:197404743 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2248G>A (p.Gly750Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001977555] Chr1:197427573 [GRCh38]
Chr1:197396703 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3049A>G (p.Ser1017Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV002045993] Chr1:197434912 [GRCh38]
Chr1:197404042 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1856del (p.Gly619fs) deletion Retinitis pigmentosa 12 [RCV001953514] Chr1:197421682 [GRCh38]
Chr1:197390812 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3256G>T (p.Ala1086Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002028703] Chr1:197435119 [GRCh38]
Chr1:197404249 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.580C>T (p.Pro194Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002013435] Chr1:197328931 [GRCh38]
Chr1:197298061 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2479G>A (p.Gly827Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001972013] Chr1:197427804 [GRCh38]
Chr1:197396934 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2159A>T (p.Asp720Val) single nucleotide variant Retinitis pigmentosa 12 [RCV002028701] Chr1:197427484 [GRCh38]
Chr1:197396614 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1010A>G (p.Glu337Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV001992892] Chr1:197356852 [GRCh38]
Chr1:197325982 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.358C>T (p.Gln120Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475192]|Retinitis pigmentosa 12 [RCV001936758] Chr1:197328709 [GRCh38]
Chr1:197297839 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2683C>A (p.Pro895Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV002016627] Chr1:197429455 [GRCh38]
Chr1:197398585 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3653G>C (p.Cys1218Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002013759] Chr1:197435516 [GRCh38]
Chr1:197404646 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3102G>A (p.Trp1034Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001904204] Chr1:197434965 [GRCh38]
Chr1:197404095 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3473A>G (p.Tyr1158Cys) single nucleotide variant Retinitis pigmentosa 12 [RCV001866998] Chr1:197435336 [GRCh38]
Chr1:197404466 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1253A>C (p.Asn418Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV001919018] Chr1:197421081 [GRCh38]
Chr1:197390211 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV003475279]|Retinitis pigmentosa 12 [RCV002019364] Chr1:197421588 [GRCh38]
Chr1:197390718 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) duplication Cone-rod dystrophy [RCV003324582]|Leber congenital amaurosis 8 [RCV003453970]|Pigmented paravenous retinochoroidal atrophy [RCV003453971]|Retinitis pigmentosa 12 [RCV002029507]|Retinitis pigmentosa 12 [RCV003453969] Chr1:197421665..197421666 [GRCh38]
Chr1:197390795..197390796 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3274G>A (p.Gly1092Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002030851] Chr1:197435137 [GRCh38]
Chr1:197404267 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1534C>G (p.Leu512Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001956791] Chr1:197421362 [GRCh38]
Chr1:197390492 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.208A>G (p.Met70Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001954570] Chr1:197328559 [GRCh38]
Chr1:197297689 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2541_2542del (p.Phe848fs) deletion Retinitis pigmentosa 12 [RCV002011871] Chr1:197427865..197427866 [GRCh38]
Chr1:197396995..197396996 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1778C>G (p.Ala593Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV001905875] Chr1:197421606 [GRCh38]
Chr1:197390736 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1852G>A (p.Val618Met) single nucleotide variant Retinitis pigmentosa 12 [RCV002035651] Chr1:197421680 [GRCh38]
Chr1:197390810 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2874C>A (p.Ser958Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001902127] Chr1:197434737 [GRCh38]
Chr1:197403867 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1997T>A (p.Val666Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV001956081] Chr1:197421825 [GRCh38]
Chr1:197390955 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2549G>A (p.Gly850Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV001973133] Chr1:197427874 [GRCh38]
Chr1:197397004 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1982G>T (p.Gly661Val) single nucleotide variant Retinitis pigmentosa 12 [RCV001915709] Chr1:197421810 [GRCh38]
Chr1:197390940 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1015G>A (p.Asp339Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV001934313] Chr1:197356857 [GRCh38]
Chr1:197325987 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.964A>G (p.Asn322Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV002015645] Chr1:197347455 [GRCh38]
Chr1:197316585 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3442T>C (p.Cys1148Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV003475229]|Retinitis pigmentosa 12 [RCV001951032] Chr1:197435305 [GRCh38]
Chr1:197404435 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1465G>A (p.Glu489Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV001989133] Chr1:197421293 [GRCh38]
Chr1:197390423 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3137C>T (p.Ser1046Phe) single nucleotide variant Inborn genetic diseases [RCV003166916]|Leber congenital amaurosis 8 [RCV003452057]|Pigmented paravenous retinochoroidal atrophy [RCV003452058]|Retinitis pigmentosa 12 [RCV001924808]|Retinitis pigmentosa 12 [RCV003452056] Chr1:197435000 [GRCh38]
Chr1:197404130 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3540_3541dup (p.Cys1181fs) duplication Retinitis pigmentosa 12 [RCV001926051] Chr1:197435402..197435403 [GRCh38]
Chr1:197404532..197404533 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1958T>G (p.Ile653Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001902554] Chr1:197421786 [GRCh38]
Chr1:197390916 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1660del (p.Val554fs) deletion Retinitis pigmentosa 12 [RCV001924961] Chr1:197421487 [GRCh38]
Chr1:197390617 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4G>A (p.Ala2Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV001990881] Chr1:197268416 [GRCh38]
Chr1:197237546 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2053G>A (p.Gly685Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002031648] Chr1:197421881 [GRCh38]
Chr1:197391011 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.2393T>A (p.Leu798Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001918230] Chr1:197427718 [GRCh38]
Chr1:197396848 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3224A>C (p.Lys1075Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV001905082] Chr1:197435087 [GRCh38]
Chr1:197404217 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3361C>T (p.Gln1121Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001954471] Chr1:197435224 [GRCh38]
Chr1:197404354 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.10:g.(?_197407491)_(197411316_?)del deletion Retinitis pigmentosa 12 [RCV002035173] Chr1:197407491..197411316 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.142T>A (p.Phe48Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV001982268] Chr1:197328493 [GRCh38]
Chr1:197297623 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.716G>C (p.Cys239Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001960197] Chr1:197344344 [GRCh38]
Chr1:197313474 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3787A>T (p.Lys1263Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001884818] Chr1:197438584 [GRCh38]
Chr1:197407714 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2129A>G (p.Glu710Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV001906682] Chr1:197427454 [GRCh38]
Chr1:197396584 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2249G>T (p.Gly750Val) single nucleotide variant Leber congenital amaurosis 8 [RCV003452165]|Retinitis pigmentosa 12 [RCV001940368]|Retinitis pigmentosa 12 [RCV003452164]|not provided [RCV003238878] Chr1:197427574 [GRCh38]
Chr1:197396704 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3773T>G (p.Val1258Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV001940398] Chr1:197438570 [GRCh38]
Chr1:197407700 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.127T>C (p.Ser43Pro) single nucleotide variant Leber congenital amaurosis 8 [RCV003452081]|Pigmented paravenous retinochoroidal atrophy [RCV002503519]|Pigmented paravenous retinochoroidal atrophy [RCV003452082]|Retinitis pigmentosa 12 [RCV001885011]|Retinitis pigmentosa 12 [RCV003452080] Chr1:197328478 [GRCh38]
Chr1:197297608 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.987T>C (p.Pro329=) single nucleotide variant Retinitis pigmentosa 12 [RCV001897061] Chr1:197347478 [GRCh38]
Chr1:197316608 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2254C>T (p.Leu752Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV001898973] Chr1:197427579 [GRCh38]
Chr1:197396709 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.299C>T (p.Pro100Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV001922644] Chr1:197328650 [GRCh38]
Chr1:197297780 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3620C>A (p.Thr1207Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV001974765] Chr1:197435483 [GRCh38]
Chr1:197404613 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3485A>G (p.His1162Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV001932202] Chr1:197435348 [GRCh38]
Chr1:197404478 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1708G>A (p.Val570Met) single nucleotide variant Leber congenital amaurosis 8 [RCV003453935]|Pigmented paravenous retinochoroidal atrophy [RCV003453936]|Retinitis pigmentosa 12 [RCV002012365]|Retinitis pigmentosa 12 [RCV003453934]|not provided [RCV003128842] Chr1:197421536 [GRCh38]
Chr1:197390666 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.14A>G (p.Asn5Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV001954770] Chr1:197268426 [GRCh38]
Chr1:197237556 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4005+2T>C single nucleotide variant Retinitis pigmentosa 12 [RCV001994673] Chr1:197442294 [GRCh38]
Chr1:197411424 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2082C>A (p.Tyr694Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV001978979] Chr1:197421910 [GRCh38]
Chr1:197391040 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2141G>A (p.Gly714Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV002016491] Chr1:197427466 [GRCh38]
Chr1:197396596 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4209G>T (p.Glu1403Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV001975783] Chr1:197477867 [GRCh38]
Chr1:197446997 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2288T>A (p.Ile763Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV001899411] Chr1:197427613 [GRCh38]
Chr1:197396743 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.716G>T (p.Cys239Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV001881511] Chr1:197344344 [GRCh38]
Chr1:197313474 [GRCh37]
Chr1:1q31.3
pathogenic|uncertain significance
NM_201253.3(CRB1):c.1831del (p.Ser611fs) deletion Leber congenital amaurosis 8 [RCV003475148]|Retinitis pigmentosa 12 [RCV001901218] Chr1:197421659 [GRCh38]
Chr1:197390789 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.798_799del (p.Ala267fs) microsatellite Leber congenital amaurosis 8 [RCV003319497]|Retinitis pigmentosa 12 [RCV001955988] Chr1:197344423..197344424 [GRCh38]
Chr1:197313553..197313554 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1732G>C (p.Val578Leu) single nucleotide variant Leber congenital amaurosis 8 [RCV003452085]|Pigmented paravenous retinochoroidal atrophy [RCV002490170]|Pigmented paravenous retinochoroidal atrophy [RCV003452086]|Retinitis pigmentosa 12 [RCV001903119]|Retinitis pigmentosa 12 [RCV003452084] Chr1:197421560 [GRCh38]
Chr1:197390690 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2995C>T (p.Leu999Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV001899514] Chr1:197434858 [GRCh38]
Chr1:197403988 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.998G>C (p.Gly333Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV001956079] Chr1:197356840 [GRCh38]
Chr1:197325970 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1837T>C (p.Leu613=) single nucleotide variant Retinitis pigmentosa 12 [RCV002085091] Chr1:197421665 [GRCh38]
Chr1:197390795 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2799T>C (p.Cys933=) single nucleotide variant Retinitis pigmentosa 12 [RCV002148601] Chr1:197429571 [GRCh38]
Chr1:197398701 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2433A>G (p.Ser811=) single nucleotide variant Retinitis pigmentosa 12 [RCV002108394] Chr1:197427758 [GRCh38]
Chr1:197396888 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2868A>G (p.Gly956=) single nucleotide variant Retinitis pigmentosa 12 [RCV002106007] Chr1:197434731 [GRCh38]
Chr1:197403861 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2712C>T (p.Ser904=) single nucleotide variant Retinitis pigmentosa 12 [RCV002073853] Chr1:197429484 [GRCh38]
Chr1:197398614 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1749C>T (p.Ile583=) single nucleotide variant Retinitis pigmentosa 12 [RCV002087514] Chr1:197421577 [GRCh38]
Chr1:197390707 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2583T>C (p.Asn861=) single nucleotide variant Retinitis pigmentosa 12 [RCV002092328] Chr1:197427908 [GRCh38]
Chr1:197397038 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.963C>T (p.Asp321=) single nucleotide variant Retinitis pigmentosa 12 [RCV002167132] Chr1:197347454 [GRCh38]
Chr1:197316584 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-14T>C single nucleotide variant Retinitis pigmentosa 12 [RCV002105870] Chr1:197328408 [GRCh38]
Chr1:197297538 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.636T>C (p.Cys212=) single nucleotide variant Retinitis pigmentosa 12 [RCV002086027] Chr1:197328987 [GRCh38]
Chr1:197298117 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2949G>A (p.Arg983=) single nucleotide variant Retinitis pigmentosa 12 [RCV002209065] Chr1:197434812 [GRCh38]
Chr1:197403942 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2379C>T (p.Val793=) single nucleotide variant Retinitis pigmentosa 12 [RCV002086766] Chr1:197427704 [GRCh38]
Chr1:197396834 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3273G>A (p.Lys1091=) single nucleotide variant Retinitis pigmentosa 12 [RCV002187095] Chr1:197435136 [GRCh38]
Chr1:197404266 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2742T>C (p.Pro914=) single nucleotide variant Retinitis pigmentosa 12 [RCV002209475] Chr1:197429514 [GRCh38]
Chr1:197398644 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4014T>C (p.Asp1338=) single nucleotide variant Retinitis pigmentosa 12 [RCV002091246] Chr1:197477672 [GRCh38]
Chr1:197446802 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.939T>C (p.Asn313=) single nucleotide variant Retinitis pigmentosa 12 [RCV002192103] Chr1:197347430 [GRCh38]
Chr1:197316560 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.652+17C>G single nucleotide variant Retinitis pigmentosa 12 [RCV002091416] Chr1:197329020 [GRCh38]
Chr1:197298150 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2184T>A (p.Thr728=) single nucleotide variant Retinitis pigmentosa 12 [RCV002085053] Chr1:197427509 [GRCh38]
Chr1:197396639 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.894T>C (p.Cys298=) single nucleotide variant Retinitis pigmentosa 12 [RCV002207005] Chr1:197347385 [GRCh38]
Chr1:197316515 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3396A>T (p.Ser1132=) single nucleotide variant Retinitis pigmentosa 12 [RCV002085222] Chr1:197435259 [GRCh38]
Chr1:197404389 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.261C>T (p.Asn87=) single nucleotide variant Retinitis pigmentosa 12 [RCV002148911] Chr1:197328612 [GRCh38]
Chr1:197297742 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2052A>G (p.Arg684=) single nucleotide variant Retinitis pigmentosa 12 [RCV002208654] Chr1:197421880 [GRCh38]
Chr1:197391010 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1171+11G>C single nucleotide variant Retinitis pigmentosa 12 [RCV002107471] Chr1:197357024 [GRCh38]
Chr1:197326154 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2406A>C (p.Pro802=) single nucleotide variant Retinitis pigmentosa 12 [RCV002084847] Chr1:197427731 [GRCh38]
Chr1:197396861 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3381A>G (p.Lys1127=) single nucleotide variant Retinitis pigmentosa 12 [RCV002190847] Chr1:197435244 [GRCh38]
Chr1:197404374 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.414T>C (p.Ala138=) single nucleotide variant Retinitis pigmentosa 12 [RCV002108205] Chr1:197328765 [GRCh38]
Chr1:197297895 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2676+10A>G single nucleotide variant Retinitis pigmentosa 12 [RCV002127742] Chr1:197428011 [GRCh38]
Chr1:197397141 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1425C>T (p.Tyr475=) single nucleotide variant Retinitis pigmentosa 12 [RCV002206703] Chr1:197421253 [GRCh38]
Chr1:197390383 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.813T>C (p.Cys271=) single nucleotide variant Retinitis pigmentosa 12 [RCV002166371] Chr1:197344441 [GRCh38]
Chr1:197313571 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3879-9A>G single nucleotide variant Retinitis pigmentosa 12 [RCV002167481] Chr1:197442157 [GRCh38]
Chr1:197411287 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4056T>G (p.Thr1352=) single nucleotide variant Retinitis pigmentosa 12 [RCV002106711] Chr1:197477714 [GRCh38]
Chr1:197446844 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.826C>T (p.Leu276=) single nucleotide variant Retinitis pigmentosa 12 [RCV002125552] Chr1:197344454 [GRCh38]
Chr1:197313584 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2748C>T (p.Leu916=) single nucleotide variant Retinitis pigmentosa 12 [RCV002209722] Chr1:197429520 [GRCh38]
Chr1:197398650 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.848+9dup duplication Retinitis pigmentosa 12 [RCV002071377] Chr1:197344481..197344482 [GRCh38]
Chr1:197313611..197313612 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.71-12del deletion Retinitis pigmentosa 12 [RCV002206019] Chr1:197328410 [GRCh38]
Chr1:197297540 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4038C>T (p.Thr1346=) single nucleotide variant Retinitis pigmentosa 12 [RCV002126712] Chr1:197477696 [GRCh38]
Chr1:197446826 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3956T>A (p.Phe1319Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV002213404] Chr1:197442243 [GRCh38]
Chr1:197411373 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3879-16T>G single nucleotide variant Retinitis pigmentosa 12 [RCV002078268] Chr1:197442150 [GRCh38]
Chr1:197411280 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1521T>G (p.Val507=) single nucleotide variant Retinitis pigmentosa 12 [RCV002153700] Chr1:197421349 [GRCh38]
Chr1:197390479 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1038C>T (p.Asn346=) single nucleotide variant Retinitis pigmentosa 12 [RCV002078635] Chr1:197356880 [GRCh38]
Chr1:197326010 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1656A>T (p.Ser552=) single nucleotide variant Retinitis pigmentosa 12 [RCV002096831] Chr1:197421484 [GRCh38]
Chr1:197390614 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1446C>T (p.Ile482=) single nucleotide variant Retinitis pigmentosa 12 [RCV002077946] Chr1:197421274 [GRCh38]
Chr1:197390404 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.70+10_70+14dup duplication Retinitis pigmentosa 12 [RCV002113144] Chr1:197268491..197268492 [GRCh38]
Chr1:197237621..197237622 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.213A>G (p.Lys71=) single nucleotide variant Retinitis pigmentosa 12 [RCV002131240] Chr1:197328564 [GRCh38]
Chr1:197297694 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2778G>A (p.Gln926=) single nucleotide variant Retinitis pigmentosa 12 [RCV002109607] Chr1:197429550 [GRCh38]
Chr1:197398680 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.989-8T>A single nucleotide variant Retinitis pigmentosa 12 [RCV002096352] Chr1:197356823 [GRCh38]
Chr1:197325953 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.264C>A (p.Thr88=) single nucleotide variant Retinitis pigmentosa 12 [RCV002075215] Chr1:197328615 [GRCh38]
Chr1:197297745 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3933G>A (p.Leu1311=) single nucleotide variant Retinitis pigmentosa 12 [RCV002171170] Chr1:197442220 [GRCh38]
Chr1:197411350 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1171+10A>G single nucleotide variant Retinitis pigmentosa 12 [RCV002134616] Chr1:197357023 [GRCh38]
Chr1:197326153 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1920A>G (p.Val640=) single nucleotide variant Retinitis pigmentosa 12 [RCV002085011] Chr1:197421748 [GRCh38]
Chr1:197390878 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.504T>C (p.Asp168=) single nucleotide variant Retinitis pigmentosa 12 [RCV002169599] Chr1:197328855 [GRCh38]
Chr1:197297985 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.519C>T (p.Phe173=) single nucleotide variant Retinitis pigmentosa 12 [RCV002171856] Chr1:197328870 [GRCh38]
Chr1:197298000 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3510A>G (p.Ser1170=) single nucleotide variant Retinitis pigmentosa 12 [RCV002205602] Chr1:197435373 [GRCh38]
Chr1:197404503 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.339C>T (p.Ser113=) single nucleotide variant Retinitis pigmentosa 12 [RCV002108287] Chr1:197328690 [GRCh38]
Chr1:197297820 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3285G>T (p.Gly1095=) single nucleotide variant Retinitis pigmentosa 12 [RCV002153242] Chr1:197435148 [GRCh38]
Chr1:197404278 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4068A>G (p.Leu1356=) single nucleotide variant Retinitis pigmentosa 12 [RCV002133027] Chr1:197477726 [GRCh38]
Chr1:197446856 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1824T>C (p.Phe608=) single nucleotide variant Retinitis pigmentosa 12 [RCV002150268] Chr1:197421652 [GRCh38]
Chr1:197390782 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2370T>C (p.Asp790=) single nucleotide variant Retinitis pigmentosa 12 [RCV002195405] Chr1:197427695 [GRCh38]
Chr1:197396825 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4117A>C (p.Arg1373=) single nucleotide variant Retinitis pigmentosa 12 [RCV002079904] Chr1:197477775 [GRCh38]
Chr1:197446905 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3000T>C (p.Asn1000=) single nucleotide variant Retinitis pigmentosa 12 [RCV002135250] Chr1:197434863 [GRCh38]
Chr1:197403993 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3213C>T (p.Leu1071=) single nucleotide variant Retinitis pigmentosa 12 [RCV002087318] Chr1:197435076 [GRCh38]
Chr1:197404206 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2541C>T (p.Phe847=) single nucleotide variant Retinitis pigmentosa 12 [RCV002078947] Chr1:197427866 [GRCh38]
Chr1:197396996 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4110C>T (p.Ser1370=) single nucleotide variant Retinitis pigmentosa 12 [RCV002214029] Chr1:197477768 [GRCh38]
Chr1:197446898 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.989-9A>G single nucleotide variant Retinitis pigmentosa 12 [RCV002186001] Chr1:197356822 [GRCh38]
Chr1:197325952 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2843-8C>A single nucleotide variant Retinitis pigmentosa 12 [RCV002208919] Chr1:197434698 [GRCh38]
Chr1:197403828 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3749+8T>A single nucleotide variant Retinitis pigmentosa 12 [RCV002216340] Chr1:197435620 [GRCh38]
Chr1:197404750 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2898T>C (p.Asn966=) single nucleotide variant Retinitis pigmentosa 12 [RCV002209094] Chr1:197434761 [GRCh38]
Chr1:197403891 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.653-6T>A single nucleotide variant Retinitis pigmentosa 12 [RCV002094871] Chr1:197344275 [GRCh38]
Chr1:197313405 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2523T>C (p.Thr841=) single nucleotide variant Retinitis pigmentosa 12 [RCV002078112] Chr1:197427848 [GRCh38]
Chr1:197396978 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.450T>C (p.Asp150=) single nucleotide variant Retinitis pigmentosa 12 [RCV002092512] Chr1:197328801 [GRCh38]
Chr1:197297931 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1172-20C>T single nucleotide variant Retinitis pigmentosa 12 [RCV002152229] Chr1:197420980 [GRCh38]
Chr1:197390110 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2391T>C (p.Ser797=) single nucleotide variant Retinitis pigmentosa 12 [RCV002078821] Chr1:197427716 [GRCh38]
Chr1:197396846 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1737C>A (p.Thr579=) single nucleotide variant Retinitis pigmentosa 12 [RCV002130596] Chr1:197421565 [GRCh38]
Chr1:197390695 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1134C>T (p.Ala378=) single nucleotide variant Retinitis pigmentosa 12 [RCV002195414] Chr1:197356976 [GRCh38]
Chr1:197326106 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3879-15_3879-12del deletion Retinitis pigmentosa 12 [RCV002116285] Chr1:197442150..197442153 [GRCh38]
Chr1:197411280..197411283 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4209G>A (p.Glu1403=) single nucleotide variant Retinitis pigmentosa 12 [RCV002152315] Chr1:197477867 [GRCh38]
Chr1:197446997 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1896T>C (p.Asn632=) single nucleotide variant Retinitis pigmentosa 12 [RCV002144713] Chr1:197421724 [GRCh38]
Chr1:197390854 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-12A>G single nucleotide variant Retinitis pigmentosa 12 [RCV002167514] Chr1:197328410 [GRCh38]
Chr1:197297540 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3915G>C (p.Pro1305=) single nucleotide variant Retinitis pigmentosa 12 [RCV002095698] Chr1:197442202 [GRCh38]
Chr1:197411332 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2058C>T (p.Arg686=) single nucleotide variant Retinitis pigmentosa 12 [RCV002146444] Chr1:197421886 [GRCh38]
Chr1:197391016 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3828G>A (p.Glu1276=) single nucleotide variant Retinitis pigmentosa 12 [RCV002114641] Chr1:197438625 [GRCh38]
Chr1:197407755 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4122A>T (p.Ala1374=) single nucleotide variant Retinitis pigmentosa 12 [RCV002208407] Chr1:197477780 [GRCh38]
Chr1:197446910 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1590T>C (p.Asp530=) single nucleotide variant Retinitis pigmentosa 12 [RCV002215563] Chr1:197421418 [GRCh38]
Chr1:197390548 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3939G>A (p.Gln1313=) single nucleotide variant Retinitis pigmentosa 12 [RCV002116488] Chr1:197442226 [GRCh38]
Chr1:197411356 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2257C>T (p.Leu753=) single nucleotide variant Retinitis pigmentosa 12 [RCV002150649] Chr1:197427582 [GRCh38]
Chr1:197396712 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.66A>T (p.Ile22=) single nucleotide variant Retinitis pigmentosa 12 [RCV002170834] Chr1:197268478 [GRCh38]
Chr1:197237608 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2763C>G (p.Ala921=) single nucleotide variant Retinitis pigmentosa 12 [RCV002151001] Chr1:197429535 [GRCh38]
Chr1:197398665 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3762A>G (p.Leu1254=) single nucleotide variant Retinitis pigmentosa 12 [RCV002213255] Chr1:197438559 [GRCh38]
Chr1:197407689 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.132A>G (p.Thr44=) single nucleotide variant Retinitis pigmentosa 12 [RCV002187794] Chr1:197328483 [GRCh38]
Chr1:197297613 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1929C>G (p.Leu643=) single nucleotide variant Retinitis pigmentosa 12 [RCV002080480] Chr1:197421757 [GRCh38]
Chr1:197390887 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2616A>C (p.Ala872=) single nucleotide variant Retinitis pigmentosa 12 [RCV002077390] Chr1:197427941 [GRCh38]
Chr1:197397071 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1362A>G (p.Gly454=) single nucleotide variant Retinitis pigmentosa 12 [RCV002152682] Chr1:197421190 [GRCh38]
Chr1:197390320 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2691C>T (p.His897=) single nucleotide variant Retinitis pigmentosa 12 [RCV002153904] Chr1:197429463 [GRCh38]
Chr1:197398593 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.834G>C (p.Val278=) single nucleotide variant Retinitis pigmentosa 12 [RCV002083271] Chr1:197344462 [GRCh38]
Chr1:197313592 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3750-10A>C single nucleotide variant Retinitis pigmentosa 12 [RCV002218358] Chr1:197438537 [GRCh38]
Chr1:197407667 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.12G>A (p.Lys4=) single nucleotide variant Retinitis pigmentosa 12 [RCV002201456] Chr1:197268424 [GRCh38]
Chr1:197237554 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3432C>T (p.Asn1144=) single nucleotide variant Retinitis pigmentosa 12 [RCV002081638] Chr1:197435295 [GRCh38]
Chr1:197404425 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2128+14G>A single nucleotide variant Retinitis pigmentosa 12 [RCV002175651] Chr1:197421970 [GRCh38]
Chr1:197391100 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.234C>G (p.Pro78=) single nucleotide variant Retinitis pigmentosa 12 [RCV002137847] Chr1:197328585 [GRCh38]
Chr1:197297715 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3765C>T (p.Pro1255=) single nucleotide variant Retinitis pigmentosa 12 [RCV002217207] Chr1:197438562 [GRCh38]
Chr1:197407692 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2745C>T (p.Ala915=) single nucleotide variant Retinitis pigmentosa 12 [RCV002120179] Chr1:197429517 [GRCh38]
Chr1:197398647 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3924T>C (p.Asn1308=) single nucleotide variant Retinitis pigmentosa 12 [RCV002102670] Chr1:197442211 [GRCh38]
Chr1:197411341 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.942T>A (p.Ala314=) single nucleotide variant Retinitis pigmentosa 12 [RCV002198568] Chr1:197347433 [GRCh38]
Chr1:197316563 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.312G>A (p.Gly104=) single nucleotide variant Retinitis pigmentosa 12 [RCV002100574] Chr1:197328663 [GRCh38]
Chr1:197297793 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4053G>A (p.Val1351=) single nucleotide variant Retinitis pigmentosa 12 [RCV002202169] Chr1:197477711 [GRCh38]
Chr1:197446841 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2100G>A (p.Arg700=) single nucleotide variant Retinitis pigmentosa 12 [RCV002121945] Chr1:197421928 [GRCh38]
Chr1:197391058 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.653-7_653-6del deletion Retinitis pigmentosa 12 [RCV002141795] Chr1:197344270..197344271 [GRCh38]
Chr1:197313400..197313401 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4005+10C>T single nucleotide variant Retinitis pigmentosa 12 [RCV002120718] Chr1:197442302 [GRCh38]
Chr1:197411432 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1791T>C (p.Thr597=) single nucleotide variant Retinitis pigmentosa 12 [RCV002153919] Chr1:197421619 [GRCh38]
Chr1:197390749 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1218C>T (p.Cys406=) single nucleotide variant Retinitis pigmentosa 12 [RCV002201538] Chr1:197421046 [GRCh38]
Chr1:197390176 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4029C>T (p.Asp1343=) single nucleotide variant Retinitis pigmentosa 12 [RCV002161543] Chr1:197477687 [GRCh38]
Chr1:197446817 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2676+15T>A single nucleotide variant Retinitis pigmentosa 12 [RCV002098012] Chr1:197428016 [GRCh38]
Chr1:197397146 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2018A>G (p.Lys673Arg) single nucleotide variant Inborn genetic diseases [RCV003061773]|Retinitis pigmentosa 12 [RCV002135605] Chr1:197421846 [GRCh38]
Chr1:197390976 [GRCh37]
Chr1:1q31.3
likely benign|uncertain significance
NM_201253.3(CRB1):c.3477C>T (p.Ser1159=) single nucleotide variant Retinitis pigmentosa 12 [RCV002156037] Chr1:197435340 [GRCh38]
Chr1:197404470 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.381G>A (p.Gln127=) single nucleotide variant Retinitis pigmentosa 12 [RCV002163404] Chr1:197328732 [GRCh38]
Chr1:197297862 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3878+10_3878+15del deletion Retinitis pigmentosa 12 [RCV002181481] Chr1:197438685..197438690 [GRCh38]
Chr1:197407815..197407820 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2826G>A (p.Val942=) single nucleotide variant Retinitis pigmentosa 12 [RCV002183306] Chr1:197429598 [GRCh38]
Chr1:197398728 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.652+13A>G single nucleotide variant Retinitis pigmentosa 12 [RCV002183438] Chr1:197329016 [GRCh38]
Chr1:197298146 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.795G>A (p.Glu265=) single nucleotide variant Retinitis pigmentosa 12 [RCV002219125] Chr1:197344423 [GRCh38]
Chr1:197313553 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1512G>A (p.Lys504=) single nucleotide variant Retinitis pigmentosa 12 [RCV002162124] Chr1:197421340 [GRCh38]
Chr1:197390470 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3609G>A (p.Glu1203=) single nucleotide variant Retinitis pigmentosa 12 [RCV002164057] Chr1:197435472 [GRCh38]
Chr1:197404602 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1172-10T>G single nucleotide variant Retinitis pigmentosa 12 [RCV002118482] Chr1:197420990 [GRCh38]
Chr1:197390120 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-6T>C single nucleotide variant Retinitis pigmentosa 12 [RCV002100757] Chr1:197328416 [GRCh38]
Chr1:197297546 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2244A>G (p.Pro748=) single nucleotide variant Retinitis pigmentosa 12 [RCV002143700] Chr1:197427569 [GRCh38]
Chr1:197396699 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3804C>T (p.Cys1268=) single nucleotide variant Retinitis pigmentosa 12 [RCV002178207] Chr1:197438601 [GRCh38]
Chr1:197407731 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3189C>A (p.Thr1063=) single nucleotide variant Retinitis pigmentosa 12 [RCV002164203] Chr1:197435052 [GRCh38]
Chr1:197404182 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.852T>C (p.Tyr284=) single nucleotide variant Retinitis pigmentosa 12 [RCV002157077] Chr1:197347343 [GRCh38]
Chr1:197316473 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2334C>T (p.Asn778=) single nucleotide variant Retinitis pigmentosa 12 [RCV002198903] Chr1:197427659 [GRCh38]
Chr1:197396789 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.624T>C (p.Tyr208=) single nucleotide variant Retinitis pigmentosa 12 [RCV002142366] Chr1:197328975 [GRCh38]
Chr1:197298105 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.144T>C (p.Phe48=) single nucleotide variant Retinitis pigmentosa 12 [RCV002144115] Chr1:197328495 [GRCh38]
Chr1:197297625 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.653-9T>G single nucleotide variant Retinitis pigmentosa 12 [RCV002202974] Chr1:197344272 [GRCh38]
Chr1:197313402 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1671C>T (p.Phe557=) single nucleotide variant Retinitis pigmentosa 12 [RCV002142547] Chr1:197421499 [GRCh38]
Chr1:197390629 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1725A>G (p.Ala575=) single nucleotide variant Retinitis pigmentosa 12 [RCV002142579] Chr1:197421553 [GRCh38]
Chr1:197390683 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2901G>C (p.Gly967=) single nucleotide variant Retinitis pigmentosa 12 [RCV002143921] Chr1:197434764 [GRCh38]
Chr1:197403894 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3663C>T (p.His1221=) single nucleotide variant Retinitis pigmentosa 12 [RCV002097823] Chr1:197435526 [GRCh38]
Chr1:197404656 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.819T>C (p.His273=) single nucleotide variant Retinitis pigmentosa 12 [RCV002139013] Chr1:197344447 [GRCh38]
Chr1:197313577 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2129-15A>G single nucleotide variant Retinitis pigmentosa 12 [RCV002117711] Chr1:197427439 [GRCh38]
Chr1:197396569 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1779G>T (p.Ala593=) single nucleotide variant Retinitis pigmentosa 12 [RCV002182369] Chr1:197421607 [GRCh38]
Chr1:197390737 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-10T>A single nucleotide variant Retinitis pigmentosa 12 [RCV002197984] Chr1:197328412 [GRCh38]
Chr1:197297542 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3445T>C (p.Leu1149=) single nucleotide variant Retinitis pigmentosa 12 [RCV002201707] Chr1:197435308 [GRCh38]
Chr1:197404438 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1194C>T (p.Val398=) single nucleotide variant Retinitis pigmentosa 12 [RCV002180705] Chr1:197421022 [GRCh38]
Chr1:197390152 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4113C>T (p.Asn1371=) single nucleotide variant Retinitis pigmentosa 12 [RCV002156267] Chr1:197477771 [GRCh38]
Chr1:197446901 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1172-15T>C single nucleotide variant Retinitis pigmentosa 12 [RCV002180713] Chr1:197420985 [GRCh38]
Chr1:197390115 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4137C>T (p.Tyr1379=) single nucleotide variant Retinitis pigmentosa 12 [RCV002177636] Chr1:197477795 [GRCh38]
Chr1:197446925 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2259A>G (p.Leu753=) single nucleotide variant Retinitis pigmentosa 12 [RCV002100568] Chr1:197427584 [GRCh38]
Chr1:197396714 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2901G>A (p.Gly967=) single nucleotide variant Retinitis pigmentosa 12 [RCV002179763] Chr1:197434764 [GRCh38]
Chr1:197403894 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1740T>C (p.Leu580=) single nucleotide variant Retinitis pigmentosa 12 [RCV002136419] Chr1:197421568 [GRCh38]
Chr1:197390698 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3054T>C (p.Phe1018=) single nucleotide variant Retinitis pigmentosa 12 [RCV002219520] Chr1:197434917 [GRCh38]
Chr1:197404047 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3879-4G>A single nucleotide variant Retinitis pigmentosa 12 [RCV002124025] Chr1:197442162 [GRCh38]
Chr1:197411292 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.201T>C (p.Cys67=) single nucleotide variant Retinitis pigmentosa 12 [RCV002180621] Chr1:197328552 [GRCh38]
Chr1:197297682 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3954A>G (p.Lys1318=) single nucleotide variant Retinitis pigmentosa 12 [RCV002155887] Chr1:197442241 [GRCh38]
Chr1:197411371 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3108A>G (p.Glu1036=) single nucleotide variant Retinitis pigmentosa 12 [RCV002218562] Chr1:197434971 [GRCh38]
Chr1:197404101 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.543A>G (p.Arg181=) single nucleotide variant Retinitis pigmentosa 12 [RCV002156095] Chr1:197328894 [GRCh38]
Chr1:197298024 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3921C>G (p.Val1307=) single nucleotide variant Retinitis pigmentosa 12 [RCV002157879] Chr1:197442208 [GRCh38]
Chr1:197411338 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.114T>C (p.Ser38=) single nucleotide variant Retinitis pigmentosa 12 [RCV002156080] Chr1:197328465 [GRCh38]
Chr1:197297595 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2772G>A (p.Glu924=) single nucleotide variant Retinitis pigmentosa 12 [RCV002137566] Chr1:197429544 [GRCh38]
Chr1:197398674 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3753G>A (p.Gln1251=) single nucleotide variant Retinitis pigmentosa 12 [RCV002098511] Chr1:197438550 [GRCh38]
Chr1:197407680 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2172T>C (p.Tyr724=) single nucleotide variant Retinitis pigmentosa 12 [RCV002183707] Chr1:197427497 [GRCh38]
Chr1:197396627 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2277T>C (p.Thr759=) single nucleotide variant Retinitis pigmentosa 12 [RCV002136138] Chr1:197427602 [GRCh38]
Chr1:197396732 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.348G>A (p.Lys116=) single nucleotide variant Retinitis pigmentosa 12 [RCV002158641] Chr1:197328699 [GRCh38]
Chr1:197297829 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3636A>G (p.Glu1212=) single nucleotide variant Retinitis pigmentosa 12 [RCV002201077] Chr1:197435499 [GRCh38]
Chr1:197404629 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1713G>A (p.Glu571=) single nucleotide variant Retinitis pigmentosa 12 [RCV002178397] Chr1:197421541 [GRCh38]
Chr1:197390671 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2022T>C (p.Asp674=) single nucleotide variant Retinitis pigmentosa 12 [RCV002157221] Chr1:197421850 [GRCh38]
Chr1:197390980 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1143T>C (p.Tyr381=) single nucleotide variant Retinitis pigmentosa 12 [RCV002178532] Chr1:197356985 [GRCh38]
Chr1:197326115 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1023T>C (p.Asn341=) single nucleotide variant Retinitis pigmentosa 12 [RCV002101335] Chr1:197356865 [GRCh38]
Chr1:197325995 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2676+15T>C single nucleotide variant Retinitis pigmentosa 12 [RCV002119283] Chr1:197428016 [GRCh38]
Chr1:197397146 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3535G>A (p.Asp1179Asn) single nucleotide variant Inborn genetic diseases [RCV003162120]|Leber congenital amaurosis 8 [RCV003455761]|Pigmented paravenous retinochoroidal atrophy [RCV003455762]|Retinitis pigmentosa 12 [RCV003110424]|Retinitis pigmentosa 12 [RCV003455760] Chr1:197435398 [GRCh38]
Chr1:197404528 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.30C>T (p.Leu10=) single nucleotide variant Retinitis pigmentosa 12 [RCV003110899] Chr1:197268442 [GRCh38]
Chr1:197237572 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1689C>T (p.Ser563=) single nucleotide variant Retinitis pigmentosa 12 [RCV003115639] Chr1:197421517 [GRCh38]
Chr1:197390647 [GRCh37]
Chr1:1q31.3
likely benign
NC_000001.10:g.(?_197390110)_(197391106_?)del deletion Retinitis pigmentosa 12 [RCV003114007] Chr1:197390110..197391106 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.10:g.(?_197390110)_(197398764_?)del deletion Retinitis pigmentosa 12 [RCV003114008] Chr1:197390110..197398764 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.10:g.(?_197237543)_(197237632_?)dup duplication Retinitis pigmentosa 12 [RCV003114009] Chr1:197237543..197237632 [GRCh37]
Chr1:1q31.3
uncertain significance
NC_000001.10:g.(?_197297532)_(197447009_?)dup duplication Retinitis pigmentosa 12 [RCV003114010] Chr1:197297532..197447009 [GRCh37]
Chr1:1q31.3
uncertain significance
NC_000001.10:g.(?_197297532)_(197326163_?)dup duplication Retinitis pigmentosa 12 [RCV003114011] Chr1:197297532..197326163 [GRCh37]
Chr1:1q31.3
uncertain significance
NC_000001.10:g.(?_197313391)_(197411442_?)dup duplication Retinitis pigmentosa 12 [RCV003114012] Chr1:197313391..197411442 [GRCh37]
Chr1:1q31.3
likely pathogenic
NC_000001.10:g.(?_197407736)_(197423021_?)del deletion Retinitis pigmentosa 12 [RCV003114013] Chr1:197407736..197423021 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.10:g.(?_197237324)_(197447595_?)del deletion Retinitis pigmentosa 12 [RCV003114014] Chr1:197237324..197447595 [GRCh37]
Chr1:1q31.3
pathogenic
NC_000001.10:g.(?_197325941)_(197326163_?)del deletion Retinitis pigmentosa 12 [RCV003114015] Chr1:197325941..197326163 [GRCh37]
Chr1:1q31.3
likely pathogenic
NC_000001.10:g.(?_197407657)_(197411442_?)del deletion Retinitis pigmentosa 12 [RCV003114016] Chr1:197407657..197411442 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1692T>C (p.Asp564=) single nucleotide variant Retinitis pigmentosa 12 [RCV003121525] Chr1:197421520 [GRCh38]
Chr1:197390650 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1775T>C (p.Ile592Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV003120053] Chr1:197421603 [GRCh38]
Chr1:197390733 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2970_2971delinsTT (p.Leu990_His991delinsPheTyr) indel not provided [RCV002275475] Chr1:197434833..197434834 [GRCh38]
Chr1:197403963..197403964 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2123T>A (p.Leu708Gln) single nucleotide variant not provided [RCV002293783] Chr1:197421951 [GRCh38]
Chr1:197391081 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.330del (p.Ile111fs) deletion Retinitis pigmentosa 12 [RCV002289344] Chr1:197328680 [GRCh38]
Chr1:197297810 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3901T>C (p.Cys1301Arg) single nucleotide variant not specified [RCV003236362] Chr1:197442188 [GRCh38]
Chr1:197411318 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2420T>G (p.Leu807Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002291111] Chr1:197427745 [GRCh38]
Chr1:197396875 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3511G>T (p.Gly1171Trp) single nucleotide variant not provided [RCV002293828] Chr1:197435374 [GRCh38]
Chr1:197404504 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1499C>G (p.Ser500Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV002464047] Chr1:197421327 [GRCh38]
Chr1:197390457 [GRCh37]
Chr1:1q31.3
likely pathogenic
GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1 copy number loss not provided [RCV002474543] Chr1:193011753..199882947 [GRCh37]
Chr1:1q31.2-32.1
pathogenic
NM_201253.3(CRB1):c.1647T>A (p.Asn549Lys) single nucleotide variant Inborn genetic diseases [RCV003264975] Chr1:197421475 [GRCh38]
Chr1:197390605 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3562C>T (p.His1188Tyr) single nucleotide variant Inborn genetic diseases [RCV003265083] Chr1:197435425 [GRCh38]
Chr1:197404555 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1998C>T (p.Val666=) single nucleotide variant Retinitis pigmentosa 12 [RCV002858021] Chr1:197421826 [GRCh38]
Chr1:197390956 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1817G>A (p.Cys606Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV003153106] Chr1:197421645 [GRCh38]
Chr1:197390775 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3631T>A (p.Cys1211Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002304162] Chr1:197435494 [GRCh38]
Chr1:197404624 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1048T>C (p.Ser350Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV002304749] Chr1:197356890 [GRCh38]
Chr1:197326020 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1 copy number loss not provided [RCV002472500] Chr1:189633885..199854163 [GRCh37]
Chr1:1q31.1-32.1
likely pathogenic
NM_201253.3(CRB1):c.989-2014_989-1973del deletion Schizophrenia [RCV002463497] Chr1:197354815..197354856 [GRCh38]
Chr1:197323945..197323986 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2196C>G (p.Ser732Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002301507] Chr1:197427521 [GRCh38]
Chr1:197396651 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.982T>C (p.Trp328Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002296389] Chr1:197347473 [GRCh38]
Chr1:197316603 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2824G>A (p.Val942Met) single nucleotide variant Retinitis pigmentosa 12 [RCV002295896] Chr1:197429596 [GRCh38]
Chr1:197398726 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3947T>G (p.Leu1316Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002295900] Chr1:197442234 [GRCh38]
Chr1:197411364 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2568A>C (p.Arg856Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002303330] Chr1:197427893 [GRCh38]
Chr1:197397023 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.532T>C (p.Tyr178His) single nucleotide variant Retinitis pigmentosa 12 [RCV002295773] Chr1:197328883 [GRCh38]
Chr1:197298013 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3785A>G (p.Glu1262Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV002295897] Chr1:197438582 [GRCh38]
Chr1:197407712 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1786C>A (p.Pro596Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV002297958] Chr1:197421614 [GRCh38]
Chr1:197390744 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.635G>C (p.Cys212Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002295130] Chr1:197328986 [GRCh38]
Chr1:197298116 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3387T>G (p.Ser1129=) single nucleotide variant Retinitis pigmentosa 12 [RCV002863125] Chr1:197435250 [GRCh38]
Chr1:197404380 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1030A>C (p.Asn344His) single nucleotide variant Retinitis pigmentosa 12 [RCV002858551] Chr1:197356872 [GRCh38]
Chr1:197326002 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3418T>C (p.Leu1140=) single nucleotide variant Retinitis pigmentosa 12 [RCV002750610] Chr1:197435281 [GRCh38]
Chr1:197404411 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3617A>T (p.Tyr1206Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV002837784] Chr1:197435480 [GRCh38]
Chr1:197404610 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.975T>A (p.Cys325Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV002880916] Chr1:197347466 [GRCh38]
Chr1:197316596 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3913C>G (p.Pro1305Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV002686099] Chr1:197442200 [GRCh38]
Chr1:197411330 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1137A>G (p.Ser379=) single nucleotide variant Retinitis pigmentosa 12 [RCV002993973] Chr1:197356979 [GRCh38]
Chr1:197326109 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1998C>G (p.Val666=) single nucleotide variant Retinitis pigmentosa 12 [RCV003032552] Chr1:197421826 [GRCh38]
Chr1:197390956 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3427T>C (p.Cys1143Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002616959] Chr1:197435290 [GRCh38]
Chr1:197404420 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3735A>T (p.Thr1245=) single nucleotide variant Retinitis pigmentosa 12 [RCV002842128] Chr1:197435598 [GRCh38]
Chr1:197404728 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3857G>A (p.Arg1286Gln) single nucleotide variant Inborn genetic diseases [RCV003250652]|Leber congenital amaurosis 8 [RCV003455634]|Pigmented paravenous retinochoroidal atrophy [RCV003455635]|Retinitis pigmentosa 12 [RCV002971171]|Retinitis pigmentosa 12 [RCV003455633] Chr1:197438654 [GRCh38]
Chr1:197407784 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2264T>C (p.Leu755Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002776168] Chr1:197427589 [GRCh38]
Chr1:197396719 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.849-8C>T single nucleotide variant Retinitis pigmentosa 12 [RCV002858003] Chr1:197347332 [GRCh38]
Chr1:197316462 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.303G>C (p.Gly101=) single nucleotide variant Retinitis pigmentosa 12 [RCV002731523] Chr1:197328654 [GRCh38]
Chr1:197297784 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.9T>C (p.Leu3=) single nucleotide variant Retinitis pigmentosa 12 [RCV002775576] Chr1:197268421 [GRCh38]
Chr1:197237551 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2165C>T (p.Thr722Ile) single nucleotide variant Inborn genetic diseases [RCV002777287] Chr1:197427490 [GRCh38]
Chr1:197396620 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1686C>A (p.Thr562=) single nucleotide variant Retinitis pigmentosa 12 [RCV002842787] Chr1:197421514 [GRCh38]
Chr1:197390644 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1171+7C>A single nucleotide variant Retinitis pigmentosa 12 [RCV002993728] Chr1:197357020 [GRCh38]
Chr1:197326150 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.830G>A (p.Cys277Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV002839090] Chr1:197344458 [GRCh38]
Chr1:197313588 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.465C>T (p.Ser155=) single nucleotide variant Retinitis pigmentosa 12 [RCV002690278] Chr1:197328816 [GRCh38]
Chr1:197297946 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1977G>T (p.Ser659=) single nucleotide variant Retinitis pigmentosa 12 [RCV002726525] Chr1:197421805 [GRCh38]
Chr1:197390935 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.989-20T>C single nucleotide variant Retinitis pigmentosa 12 [RCV002967816] Chr1:197356811 [GRCh38]
Chr1:197325941 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.387T>C (p.Pro129=) single nucleotide variant Retinitis pigmentosa 12 [RCV002858296] Chr1:197328738 [GRCh38]
Chr1:197297868 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2132_2133del (p.Tyr711fs) deletion Retinitis pigmentosa 12 [RCV002614679] Chr1:197427456..197427457 [GRCh38]
Chr1:197396586..197396587 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3853T>G (p.Cys1285Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV002862574]|not provided [RCV003146645] Chr1:197438650 [GRCh38]
Chr1:197407780 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.276_294delinsTGAACACTGTAC (p.Arg92fs) indel Retinitis pigmentosa 12 [RCV003016957] Chr1:197328627..197328645 [GRCh38]
Chr1:197297757..197297775 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3532A>G (p.Ile1178Val) single nucleotide variant Retinitis pigmentosa 12 [RCV002908431] Chr1:197435395 [GRCh38]
Chr1:197404525 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3813A>C (p.Gly1271=) single nucleotide variant Retinitis pigmentosa 12 [RCV002731547] Chr1:197438610 [GRCh38]
Chr1:197407740 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3777T>C (p.Cys1259=) single nucleotide variant Retinitis pigmentosa 12 [RCV003017772] Chr1:197438574 [GRCh38]
Chr1:197407704 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3538G>A (p.Glu1180Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV003076543] Chr1:197435401 [GRCh38]
Chr1:197404531 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2676+12T>G single nucleotide variant Retinitis pigmentosa 12 [RCV002948221] Chr1:197428013 [GRCh38]
Chr1:197397143 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3466G>A (p.Asp1156Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV002994293] Chr1:197435329 [GRCh38]
Chr1:197404459 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3526C>T (p.Leu1176Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV002908200] Chr1:197435389 [GRCh38]
Chr1:197404519 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3
pathogenic
NM_201253.3(CRB1):c.870T>C (p.Gly290=) single nucleotide variant Retinitis pigmentosa 12 [RCV003016470] Chr1:197347361 [GRCh38]
Chr1:197316491 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3708_3709dup (p.Ser1237fs) duplication Retinitis pigmentosa 12 [RCV002947661] Chr1:197435570..197435571 [GRCh38]
Chr1:197404700..197404701 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2784T>G (p.Cys928Trp) single nucleotide variant Retinitis pigmentosa 12 [RCV002994936] Chr1:197429556 [GRCh38]
Chr1:197398686 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.316A>C (p.Ile106Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV002904585] Chr1:197328667 [GRCh38]
Chr1:197297797 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2806G>A (p.Gly936Arg) single nucleotide variant Inborn genetic diseases [RCV003274102]|Leber congenital amaurosis 8 [RCV003455627]|Pigmented paravenous retinochoroidal atrophy [RCV003455628]|Retinitis pigmentosa 12 [RCV002970730]|Retinitis pigmentosa 12 [RCV003455626] Chr1:197429578 [GRCh38]
Chr1:197398708 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1617T>C (p.Ser539=) single nucleotide variant Retinitis pigmentosa 12 [RCV002881995] Chr1:197421445 [GRCh38]
Chr1:197390575 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3750-16G>A single nucleotide variant Retinitis pigmentosa 12 [RCV002881996] Chr1:197438531 [GRCh38]
Chr1:197407661 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3270A>T (p.Ile1090=) single nucleotide variant Retinitis pigmentosa 12 [RCV002815309] Chr1:197435133 [GRCh38]
Chr1:197404263 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3007A>G (p.Ile1003Val) single nucleotide variant Retinitis pigmentosa 12 [RCV002995056] Chr1:197434870 [GRCh38]
Chr1:197404000 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3603A>G (p.Thr1201=) single nucleotide variant Retinitis pigmentosa 12 [RCV002881220] Chr1:197435466 [GRCh38]
Chr1:197404596 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.875G>T (p.Gly292Val) single nucleotide variant Retinitis pigmentosa 12 [RCV003014057] Chr1:197347366 [GRCh38]
Chr1:197316496 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1171+7C>T single nucleotide variant Retinitis pigmentosa 12 [RCV003014523] Chr1:197357020 [GRCh38]
Chr1:197326150 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2676+5T>C single nucleotide variant Retinitis pigmentosa 12 [RCV003014544] Chr1:197428006 [GRCh38]
Chr1:197397136 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2003C>T (p.Ala668Val) single nucleotide variant Retinitis pigmentosa 12 [RCV002615929] Chr1:197421831 [GRCh38]
Chr1:197390961 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1677C>T (p.Ser559=) single nucleotide variant Retinitis pigmentosa 12 [RCV003032546] Chr1:197421505 [GRCh38]
Chr1:197390635 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2068T>C (p.Leu690=) single nucleotide variant Retinitis pigmentosa 12 [RCV002995157] Chr1:197421896 [GRCh38]
Chr1:197391026 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.889C>T (p.His297Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV002731448] Chr1:197347380 [GRCh38]
Chr1:197316510 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3699T>C (p.Thr1233=) single nucleotide variant Retinitis pigmentosa 12 [RCV002726945] Chr1:197435562 [GRCh38]
Chr1:197404692 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3327C>T (p.Tyr1109=) single nucleotide variant Retinitis pigmentosa 12 [RCV002880737] Chr1:197435190 [GRCh38]
Chr1:197404320 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3343G>T (p.Gly1115Cys) single nucleotide variant Inborn genetic diseases [RCV002772455] Chr1:197435206 [GRCh38]
Chr1:197404336 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1312T>A (p.Cys438Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002858692] Chr1:197421140 [GRCh38]
Chr1:197390270 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.4140C>T (p.Ser1380=) single nucleotide variant Retinitis pigmentosa 12 [RCV002903581] Chr1:197477798 [GRCh38]
Chr1:197446928 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.663T>C (p.Cys221=) single nucleotide variant Retinitis pigmentosa 12 [RCV002776426] Chr1:197344291 [GRCh38]
Chr1:197313421 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.370A>T (p.Ile124Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV003073672] Chr1:197328721 [GRCh38]
Chr1:197297851 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4009G>A (p.Ala1337Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV003013419] Chr1:197477667 [GRCh38]
Chr1:197446797 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2862T>C (p.Phe954=) single nucleotide variant Retinitis pigmentosa 12 [RCV002861788] Chr1:197434725 [GRCh38]
Chr1:197403855 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3051C>T (p.Ser1017=) single nucleotide variant Retinitis pigmentosa 12 [RCV002881033] Chr1:197434914 [GRCh38]
Chr1:197404044 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4140C>A (p.Ser1380Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV003074719] Chr1:197477798 [GRCh38]
Chr1:197446928 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.582C>G (p.Pro194=) single nucleotide variant Retinitis pigmentosa 12 [RCV002881868] Chr1:197328933 [GRCh38]
Chr1:197298063 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1164A>T (p.Gly388=) single nucleotide variant Retinitis pigmentosa 12 [RCV002863717] Chr1:197357006 [GRCh38]
Chr1:197326136 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1171+9A>G single nucleotide variant Retinitis pigmentosa 12 [RCV002614844] Chr1:197357022 [GRCh38]
Chr1:197326152 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3098C>T (p.Thr1033Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV003075607] Chr1:197434961 [GRCh38]
Chr1:197404091 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3596A>G (p.His1199Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002907663] Chr1:197435459 [GRCh38]
Chr1:197404589 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.254G>T (p.Cys85Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV002908038] Chr1:197328605 [GRCh38]
Chr1:197297735 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.698G>A (p.Cys233Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV002842731] Chr1:197344326 [GRCh38]
Chr1:197313456 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2715G>T (p.Arg905=) single nucleotide variant Retinitis pigmentosa 12 [RCV002613410] Chr1:197429487 [GRCh38]
Chr1:197398617 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.972T>G (p.Thr324=) single nucleotide variant Retinitis pigmentosa 12 [RCV002862742] Chr1:197347463 [GRCh38]
Chr1:197316593 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1971C>T (p.Asn657=) single nucleotide variant Retinitis pigmentosa 12 [RCV003076234] Chr1:197421799 [GRCh38]
Chr1:197390929 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1405T>G (p.Cys469Gly) single nucleotide variant Leber congenital amaurosis 8 [RCV003475405]|Retinitis pigmentosa 12 [RCV002614384] Chr1:197421233 [GRCh38]
Chr1:197390363 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2635G>A (p.Val879Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV003076443] Chr1:197427960 [GRCh38]
Chr1:197397090 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4156A>G (p.Lys1386Glu) single nucleotide variant Inborn genetic diseases [RCV002818111] Chr1:197477814 [GRCh38]
Chr1:197446944 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2311A>G (p.Arg771Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV003098970] Chr1:197427636 [GRCh38]
Chr1:197396766 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.521G>C (p.Cys174Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002996740] Chr1:197328872 [GRCh38]
Chr1:197298002 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1749C>A (p.Ile583=) single nucleotide variant Retinitis pigmentosa 12 [RCV003076669] Chr1:197421577 [GRCh38]
Chr1:197390707 [GRCh37]
Chr1:1q31.3
likely benign
GRCh37/hg19 1q31.3(chr1:196670448-197898389)x1 copy number loss not provided [RCV002511626] Chr1:196670448..197898389 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1186G>A (p.Glu396Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV002967817] Chr1:197421014 [GRCh38]
Chr1:197390144 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2257_2264dup (p.Leu755delinsPheTer) duplication Retinitis pigmentosa 12 [RCV002839242] Chr1:197427579..197427580 [GRCh38]
Chr1:197396709..197396710 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.108A>G (p.Ser36=) single nucleotide variant Retinitis pigmentosa 12 [RCV002882044] Chr1:197328459 [GRCh38]
Chr1:197297589 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2001G>A (p.Lys667=) single nucleotide variant Retinitis pigmentosa 12 [RCV002750926] Chr1:197421829 [GRCh38]
Chr1:197390959 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2695G>A (p.Gly899Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002740100] Chr1:197429467 [GRCh38]
Chr1:197398597 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1071G>A (p.Leu357=) single nucleotide variant Retinitis pigmentosa 12 [RCV002662831] Chr1:197356913 [GRCh38]
Chr1:197326043 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2382C>G (p.His794Gln) single nucleotide variant Retinitis pigmentosa 12 [RCV003081341] Chr1:197427707 [GRCh38]
Chr1:197396837 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3173A>G (p.Glu1058Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV003078825] Chr1:197435036 [GRCh38]
Chr1:197404166 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4172T>G (p.Val1391Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV003055195] Chr1:197477830 [GRCh38]
Chr1:197446960 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1664T>C (p.Leu555Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV002640393] Chr1:197421492 [GRCh38]
Chr1:197390622 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1813del (p.Ile605fs) deletion Retinitis pigmentosa 12 [RCV002623262] Chr1:197421640 [GRCh38]
Chr1:197390770 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2158G>A (p.Asp720Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV002640662] Chr1:197427483 [GRCh38]
Chr1:197396613 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3666G>A (p.Gln1222=) single nucleotide variant Retinitis pigmentosa 12 [RCV003039166] Chr1:197435529 [GRCh38]
Chr1:197404659 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.848+20G>T single nucleotide variant Retinitis pigmentosa 12 [RCV002740186] Chr1:197344496 [GRCh38]
Chr1:197313626 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1145T>C (p.Val382Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV003080237] Chr1:197356987 [GRCh38]
Chr1:197326117 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1474G>A (p.Gly492Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002926717] Chr1:197421302 [GRCh38]
Chr1:197390432 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.153C>T (p.Asp51=) single nucleotide variant Retinitis pigmentosa 12 [RCV002736269] Chr1:197328504 [GRCh38]
Chr1:197297634 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.96C>G (p.Thr32=) single nucleotide variant Retinitis pigmentosa 12 [RCV003081302] Chr1:197328447 [GRCh38]
Chr1:197297577 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.604C>T (p.Leu202Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV002572055] Chr1:197328955 [GRCh38]
Chr1:197298085 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.986del (p.Pro329fs) deletion Retinitis pigmentosa 12 [RCV002868055] Chr1:197347476 [GRCh38]
Chr1:197316606 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2842+13C>T single nucleotide variant Retinitis pigmentosa 12 [RCV002886453] Chr1:197429627 [GRCh38]
Chr1:197398757 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2037A>G (p.Gln679=) single nucleotide variant Retinitis pigmentosa 12 [RCV002824121] Chr1:197421865 [GRCh38]
Chr1:197390995 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3990G>A (p.Glu1330=) single nucleotide variant Retinitis pigmentosa 12 [RCV003035426] Chr1:197442277 [GRCh38]
Chr1:197411407 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1704T>A (p.His568Gln) single nucleotide variant Retinitis pigmentosa 12 [RCV003038169] Chr1:197421532 [GRCh38]
Chr1:197390662 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2142C>A (p.Gly714=) single nucleotide variant Retinitis pigmentosa 12 [RCV002760643] Chr1:197427467 [GRCh38]
Chr1:197396597 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2833G>C (p.Gly945Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV003018726] Chr1:197429605 [GRCh38]
Chr1:197398735 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2274C>T (p.Ser758=) single nucleotide variant Retinitis pigmentosa 12 [RCV002999818] Chr1:197427599 [GRCh38]
Chr1:197396729 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3489C>T (p.Cys1163=) single nucleotide variant Retinitis pigmentosa 12 [RCV002866647] Chr1:197435352 [GRCh38]
Chr1:197404482 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1447G>C (p.Ala483Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV003077319] Chr1:197421275 [GRCh38]
Chr1:197390405 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2178C>A (p.Ile726=) single nucleotide variant Retinitis pigmentosa 12 [RCV002912916] Chr1:197427503 [GRCh38]
Chr1:197396633 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1879C>G (p.Leu627Val) single nucleotide variant Retinitis pigmentosa 12 [RCV002795741] Chr1:197421707 [GRCh38]
Chr1:197390837 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3879-15C>T single nucleotide variant Retinitis pigmentosa 12 [RCV002705474] Chr1:197442151 [GRCh38]
Chr1:197411281 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1580G>A (p.Ser527Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV002912943] Chr1:197421408 [GRCh38]
Chr1:197390538 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.89ACA[1] (p.Asn31del) microsatellite Retinitis pigmentosa 12 [RCV002638398] Chr1:197328439..197328441 [GRCh38]
Chr1:197297569..197297571 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.805C>A (p.Gln269Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV003054184] Chr1:197344433 [GRCh38]
Chr1:197313563 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2328T>C (p.Thr776=) single nucleotide variant Retinitis pigmentosa 12 [RCV002885228] Chr1:197427653 [GRCh38]
Chr1:197396783 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.988+7G>A single nucleotide variant Retinitis pigmentosa 12 [RCV002736253] Chr1:197347486 [GRCh38]
Chr1:197316616 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3827_3828del (p.Glu1276fs) microsatellite Leber congenital amaurosis 8 [RCV003319533]|Retinitis pigmentosa 12 [RCV003054034] Chr1:197438622..197438623 [GRCh38]
Chr1:197407752..197407753 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.194_195del (p.Lys65fs) deletion Retinitis pigmentosa 12 [RCV003018004] Chr1:197328544..197328545 [GRCh38]
Chr1:197297674..197297675 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.353C>T (p.Ser118Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV002909671] Chr1:197328704 [GRCh38]
Chr1:197297834 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1109CTT[2] (p.Ser372del) microsatellite Retinitis pigmentosa 12 [RCV002949214] Chr1:197356951..197356953 [GRCh38]
Chr1:197326081..197326083 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3166G>C (p.Asp1056His) single nucleotide variant Retinitis pigmentosa 12 [RCV003053333] Chr1:197435029 [GRCh38]
Chr1:197404159 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2174T>A (p.Val725Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV003019950] Chr1:197427499 [GRCh38]
Chr1:197396629 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.817C>T (p.His273Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV002909758] Chr1:197344445 [GRCh38]
Chr1:197313575 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3749+9A>G single nucleotide variant Retinitis pigmentosa 12 [RCV003078137] Chr1:197435621 [GRCh38]
Chr1:197404751 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4160A>C (p.Glu1387Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV003036505] Chr1:197477818 [GRCh38]
Chr1:197446948 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2955_2956insGA (p.Asn986fs) insertion Retinitis pigmentosa 12 [RCV002592076] Chr1:197434817..197434818 [GRCh38]
Chr1:197403947..197403948 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1922G>T (p.Gly641Val) single nucleotide variant Retinitis pigmentosa 12 [RCV002662483] Chr1:197421750 [GRCh38]
Chr1:197390880 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1275del (p.Phe425fs) deletion Leber congenital amaurosis 8 [RCV003475399]|Retinitis pigmentosa 12 [RCV002590540] Chr1:197421101 [GRCh38]
Chr1:197390231 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3398T>C (p.Val1133Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV003078506] Chr1:197435261 [GRCh38]
Chr1:197404391 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1204T>C (p.Ser402Pro) single nucleotide variant Inborn genetic diseases [RCV003269341]|Leber congenital amaurosis 8 [RCV003455617]|Pigmented paravenous retinochoroidal atrophy [RCV003455618]|Retinitis pigmentosa 12 [RCV002953339]|Retinitis pigmentosa 12 [RCV003455616] Chr1:197421032 [GRCh38]
Chr1:197390162 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2885T>A (p.Leu962Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV002690589] Chr1:197434748 [GRCh38]
Chr1:197403878 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3357A>G (p.Lys1119=) single nucleotide variant Retinitis pigmentosa 12 [RCV002620039] Chr1:197435220 [GRCh38]
Chr1:197404350 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1447G>A (p.Ala483Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV002952443] Chr1:197421275 [GRCh38]
Chr1:197390405 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2557C>A (p.Gln853Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV003038480] Chr1:197427882 [GRCh38]
Chr1:197397012 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2406A>G (p.Pro802=) single nucleotide variant Retinitis pigmentosa 12 [RCV003017967] Chr1:197427731 [GRCh38]
Chr1:197396861 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.579T>A (p.Asp193Glu) single nucleotide variant Retinitis pigmentosa 12 [RCV003078079] Chr1:197328930 [GRCh38]
Chr1:197298060 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4148G>T (p.Arg1383Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV002952908] Chr1:197477806 [GRCh38]
Chr1:197446936 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2195_2204del (p.Ser732fs) deletion Retinitis pigmentosa 12 [RCV003019484] Chr1:197427516..197427525 [GRCh38]
Chr1:197396646..197396655 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4151A>G (p.Gln1384Arg) single nucleotide variant Inborn genetic diseases [RCV003170704]|Leber congenital amaurosis 8 [RCV003455623]|Pigmented paravenous retinochoroidal atrophy [RCV003455624]|Retinitis pigmentosa 12 [RCV002948898]|Retinitis pigmentosa 12 [RCV003455622] Chr1:197477809 [GRCh38]
Chr1:197446939 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2668A>G (p.Ser890Gly) single nucleotide variant Inborn genetic diseases [RCV003274126]|Leber congenital amaurosis 8 [RCV003455649]|Pigmented paravenous retinochoroidal atrophy [RCV003455650]|Retinitis pigmentosa 12 [RCV002998900]|Retinitis pigmentosa 12 [RCV003455648] Chr1:197427993 [GRCh38]
Chr1:197397123 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2087G>A (p.Cys696Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV002949588] Chr1:197421915 [GRCh38]
Chr1:197391045 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3750-16G>C single nucleotide variant Retinitis pigmentosa 12 [RCV003035962] Chr1:197438531 [GRCh38]
Chr1:197407661 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.180C>G (p.Ala60=) single nucleotide variant Retinitis pigmentosa 12 [RCV002913622] Chr1:197328531 [GRCh38]
Chr1:197297661 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4125T>G (p.Thr1375=) single nucleotide variant Retinitis pigmentosa 12 [RCV003036840] Chr1:197477783 [GRCh38]
Chr1:197446913 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4131A>G (p.Gly1377=) single nucleotide variant Retinitis pigmentosa 12 [RCV002852252] Chr1:197477789 [GRCh38]
Chr1:197446919 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3994T>A (p.Cys1332Ser) single nucleotide variant Inborn genetic diseases [RCV002767443] Chr1:197442281 [GRCh38]
Chr1:197411411 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3441_3442del (p.Cys1148fs) deletion Leber congenital amaurosis 8 [RCV003475409]|Retinitis pigmentosa 12 [RCV002666910] Chr1:197435304..197435305 [GRCh38]
Chr1:197404434..197404435 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.399C>G (p.Val133=) single nucleotide variant Retinitis pigmentosa 12 [RCV003007574] Chr1:197328750 [GRCh38]
Chr1:197297880 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.448G>A (p.Asp150Asn) single nucleotide variant Inborn genetic diseases [RCV002768640] Chr1:197328799 [GRCh38]
Chr1:197297929 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2293_2294del (p.Val765fs) microsatellite Retinitis pigmentosa 12 [RCV002829419] Chr1:197427616..197427617 [GRCh38]
Chr1:197396746..197396747 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.405C>G (p.Ile135Met) single nucleotide variant Retinitis pigmentosa 12 [RCV002790392] Chr1:197328756 [GRCh38]
Chr1:197297886 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3783T>C (p.Asn1261=) single nucleotide variant Retinitis pigmentosa 12 [RCV003043699] Chr1:197438580 [GRCh38]
Chr1:197407710 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2907T>C (p.Ile969=) single nucleotide variant Retinitis pigmentosa 12 [RCV002830126] Chr1:197434770 [GRCh38]
Chr1:197403900 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.652+12C>A single nucleotide variant Retinitis pigmentosa 12 [RCV003081823] Chr1:197329015 [GRCh38]
Chr1:197298145 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2339C>T (p.Pro780Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV002828636] Chr1:197427664 [GRCh38]
Chr1:197396794 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3684C>T (p.Thr1228=) single nucleotide variant Retinitis pigmentosa 12 [RCV002667855] Chr1:197435547 [GRCh38]
Chr1:197404677 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2667C>T (p.Asn889=) single nucleotide variant Retinitis pigmentosa 12 [RCV002624464] Chr1:197427992 [GRCh38]
Chr1:197397122 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV002594786] Chr1:197435008 [GRCh38]
Chr1:197404138 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2282A>G (p.Gln761Arg) single nucleotide variant Inborn genetic diseases [RCV002802304] Chr1:197427607 [GRCh38]
Chr1:197396737 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.585C>G (p.Cys195Trp) single nucleotide variant Retinitis pigmentosa 12 [RCV002828472] Chr1:197328936 [GRCh38]
Chr1:197298066 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.71-6T>G single nucleotide variant Retinitis pigmentosa 12 [RCV002871808] Chr1:197328416 [GRCh38]
Chr1:197297546 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1331G>A (p.Gly444Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV002624594] Chr1:197421159 [GRCh38]
Chr1:197390289 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1123T>C (p.Tyr375His) single nucleotide variant Retinitis pigmentosa 12 [RCV003024149] Chr1:197356965 [GRCh38]
Chr1:197326095 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1172-7T>C single nucleotide variant Retinitis pigmentosa 12 [RCV002890577] Chr1:197420993 [GRCh38]
Chr1:197390123 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1881G>T (p.Leu627=) single nucleotide variant Retinitis pigmentosa 12 [RCV002957597] Chr1:197421709 [GRCh38]
Chr1:197390839 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.372T>C (p.Ile124=) single nucleotide variant Retinitis pigmentosa 12 [RCV002914934] Chr1:197328723 [GRCh38]
Chr1:197297853 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2171_2172del (p.Tyr724fs) deletion Retinitis pigmentosa 12 [RCV002643511] Chr1:197427495..197427496 [GRCh38]
Chr1:197396625..197396626 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1685C>T (p.Thr562Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV002740934] Chr1:197421513 [GRCh38]
Chr1:197390643 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.677A>C (p.Asp226Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV002890606] Chr1:197344305 [GRCh38]
Chr1:197313435 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2129-2A>C single nucleotide variant Retinitis pigmentosa 12 [RCV003040565] Chr1:197427452 [GRCh38]
Chr1:197396582 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.849-9A>G single nucleotide variant Retinitis pigmentosa 12 [RCV003083299] Chr1:197347331 [GRCh38]
Chr1:197316461 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1840G>C (p.Gly614Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV003023276] Chr1:197421668 [GRCh38]
Chr1:197390798 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.264C>T (p.Thr88=) single nucleotide variant Retinitis pigmentosa 12 [RCV003023093] Chr1:197328615 [GRCh38]
Chr1:197297745 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2527_2598del (p.Leu843_Pro866del) deletion Retinitis pigmentosa 12 [RCV003057918] Chr1:197427851..197427922 [GRCh38]
Chr1:197396981..197397052 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2346A>G (p.Leu782=) single nucleotide variant Retinitis pigmentosa 12 [RCV003083503] Chr1:197427671 [GRCh38]
Chr1:197396801 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.138del (p.Asp47fs) deletion Retinitis pigmentosa 12 [RCV002664199] Chr1:197328487 [GRCh38]
Chr1:197297617 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1703A>C (p.His568Pro) single nucleotide variant Inborn genetic diseases [RCV002697750] Chr1:197421531 [GRCh38]
Chr1:197390661 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2387T>C (p.Ile796Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV002851518] Chr1:197427712 [GRCh38]
Chr1:197396842 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.320G>T (p.Cys107Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV002766196] Chr1:197328671 [GRCh38]
Chr1:197297801 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.926C>G (p.Pro309Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002851534] Chr1:197347417 [GRCh38]
Chr1:197316547 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3183T>A (p.Phe1061Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV002985463] Chr1:197435046 [GRCh38]
Chr1:197404176 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1416A>G (p.Pro472=) single nucleotide variant Retinitis pigmentosa 12 [RCV002894005] Chr1:197421244 [GRCh38]
Chr1:197390374 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3179C>T (p.Pro1060Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV003041272] Chr1:197435042 [GRCh38]
Chr1:197404172 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3106G>A (p.Glu1036Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV002933082] Chr1:197434969 [GRCh38]
Chr1:197404099 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2811C>A (p.Ala937=) single nucleotide variant Retinitis pigmentosa 12 [RCV002872561] Chr1:197429583 [GRCh38]
Chr1:197398713 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.526C>T (p.Pro176Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002710098] Chr1:197328877 [GRCh38]
Chr1:197298007 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3204T>C (p.Thr1068=) single nucleotide variant Retinitis pigmentosa 12 [RCV003040640] Chr1:197435067 [GRCh38]
Chr1:197404197 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3914C>T (p.Pro1305Leu) single nucleotide variant Leber congenital amaurosis 8 [RCV003475520]|Retinitis pigmentosa 12 [RCV002664202] Chr1:197442201 [GRCh38]
Chr1:197411331 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.137A>C (p.Lys46Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV002828564] Chr1:197328488 [GRCh38]
Chr1:197297618 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3304A>G (p.Ile1102Val) single nucleotide variant Retinitis pigmentosa 12 [RCV003056609] Chr1:197435167 [GRCh38]
Chr1:197404297 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1171+1G>A single nucleotide variant Retinitis pigmentosa 12 [RCV002790651] Chr1:197357014 [GRCh38]
Chr1:197326144 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2112C>T (p.Gly704=) single nucleotide variant Retinitis pigmentosa 12 [RCV002786248] Chr1:197421940 [GRCh38]
Chr1:197391070 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1157A>C (p.Gln386Pro) single nucleotide variant Inborn genetic diseases [RCV002826697] Chr1:197356999 [GRCh38]
Chr1:197326129 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3749+5G>A single nucleotide variant Retinitis pigmentosa 12 [RCV003059161] Chr1:197435617 [GRCh38]
Chr1:197404747 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3406G>A (p.Gly1136Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002876315] Chr1:197435269 [GRCh38]
Chr1:197404399 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1903T>C (p.Ser635Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV003056576] Chr1:197421731 [GRCh38]
Chr1:197390861 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1253A>G (p.Asn418Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002625143] Chr1:197421081 [GRCh38]
Chr1:197390211 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1622A>G (p.Tyr541Cys) single nucleotide variant Inborn genetic diseases [RCV003274034]|Leber congenital amaurosis 8 [RCV003455575]|Pigmented paravenous retinochoroidal atrophy [RCV003455576]|Retinitis pigmentosa 12 [RCV002786470]|Retinitis pigmentosa 12 [RCV003455574] Chr1:197421450 [GRCh38]
Chr1:197390580 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2355del (p.Lys785fs) deletion Retinitis pigmentosa 12 [RCV003041940] Chr1:197427677 [GRCh38]
Chr1:197396807 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2922C>G (p.Thr974=) single nucleotide variant Retinitis pigmentosa 12 [RCV003083757] Chr1:197434785 [GRCh38]
Chr1:197403915 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3561C>T (p.Ile1187=) single nucleotide variant Retinitis pigmentosa 12 [RCV002830117] Chr1:197435424 [GRCh38]
Chr1:197404554 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3840A>T (p.Glu1280Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV003024921] Chr1:197438637 [GRCh38]
Chr1:197407767 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2696G>C (p.Gly899Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV002664200] Chr1:197429468 [GRCh38]
Chr1:197398598 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3870T>C (p.Thr1290=) single nucleotide variant Retinitis pigmentosa 12 [RCV002766770] Chr1:197438667 [GRCh38]
Chr1:197407797 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3846A>G (p.Lys1282=) single nucleotide variant Retinitis pigmentosa 12 [RCV003055811] Chr1:197438643 [GRCh38]
Chr1:197407773 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.117C>A (p.Cys39Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV002853215] Chr1:197328468 [GRCh38]
Chr1:197297598 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2272A>G (p.Ser758Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV003085175] Chr1:197427597 [GRCh38]
Chr1:197396727 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3879-13G>A single nucleotide variant Retinitis pigmentosa 12 [RCV003055916] Chr1:197442153 [GRCh38]
Chr1:197411283 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3750-10A>G single nucleotide variant Retinitis pigmentosa 12 [RCV003086235] Chr1:197438537 [GRCh38]
Chr1:197407667 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1080G>A (p.Glu360=) single nucleotide variant Retinitis pigmentosa 12 [RCV003049276] Chr1:197356922 [GRCh38]
Chr1:197326052 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3306C>A (p.Ile1102=) single nucleotide variant Retinitis pigmentosa 12 [RCV003049312] Chr1:197435169 [GRCh38]
Chr1:197404299 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4005C>T (p.Asp1335=) single nucleotide variant Retinitis pigmentosa 12 [RCV002582157] Chr1:197442292 [GRCh38]
Chr1:197411422 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.338C>T (p.Ser113Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV002900224] Chr1:197328689 [GRCh38]
Chr1:197297819 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2054G>C (p.Gly685Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV002633018] Chr1:197421882 [GRCh38]
Chr1:197391012 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.4167C>A (p.Ser1389=) single nucleotide variant Retinitis pigmentosa 12 [RCV002671294] Chr1:197477825 [GRCh38]
Chr1:197446955 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2086T>C (p.Cys696Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002651386] Chr1:197421914 [GRCh38]
Chr1:197391044 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4006-1G>A single nucleotide variant Retinitis pigmentosa 12 [RCV002651391] Chr1:197477663 [GRCh38]
Chr1:197446793 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.616G>A (p.Gly206Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002922073] Chr1:197328967 [GRCh38]
Chr1:197298097 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.478G>T (p.Gly160Trp) single nucleotide variant Retinitis pigmentosa 12 [RCV002647823] Chr1:197328829 [GRCh38]
Chr1:197297959 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3878+14G>C single nucleotide variant Retinitis pigmentosa 12 [RCV003065648] Chr1:197438689 [GRCh38]
Chr1:197407819 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3935G>T (p.Cys1312Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV002942001] Chr1:197442222 [GRCh38]
Chr1:197411352 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.667T>C (p.Leu223=) single nucleotide variant Retinitis pigmentosa 12 [RCV002941994] Chr1:197344295 [GRCh38]
Chr1:197313425 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1903T>A (p.Ser635Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV002720357] Chr1:197421731 [GRCh38]
Chr1:197390861 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1183G>A (p.Glu395Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV002651471] Chr1:197421011 [GRCh38]
Chr1:197390141 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.70+10dup duplication Retinitis pigmentosa 12 [RCV003066016] Chr1:197268489..197268490 [GRCh38]
Chr1:197237619..197237620 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3824C>G (p.Thr1275Arg) single nucleotide variant Inborn genetic diseases [RCV003250681]|Leber congenital amaurosis 8 [RCV003455645]|Pigmented paravenous retinochoroidal atrophy [RCV003455646]|Retinitis pigmentosa 12 [RCV002988525]|Retinitis pigmentosa 12 [RCV003455644] Chr1:197438621 [GRCh38]
Chr1:197407751 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2329C>G (p.Pro777Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV002676111] Chr1:197427654 [GRCh38]
Chr1:197396784 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1661T>G (p.Val554Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV003063278] Chr1:197421489 [GRCh38]
Chr1:197390619 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV003455744]|Pigmented paravenous retinochoroidal atrophy [RCV003455745]|Retinitis pigmentosa 12 [RCV002651385]|Retinitis pigmentosa 12 [RCV003455743]|not specified [RCV003324081] Chr1:197421188 [GRCh38]
Chr1:197390318 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.3668G>C (p.Cys1223Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002651389] Chr1:197435531 [GRCh38]
Chr1:197404661 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3460T>A (p.Cys1154Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002651388] Chr1:197435323 [GRCh38]
Chr1:197404453 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4147C>G (p.Arg1383Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV003060531] Chr1:197477805 [GRCh38]
Chr1:197446935 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3292del (p.Ser1098fs) deletion Retinitis pigmentosa 12 [RCV003031501] Chr1:197435154 [GRCh38]
Chr1:197404284 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1242C>T (p.Asn414=) single nucleotide variant Retinitis pigmentosa 12 [RCV003048021] Chr1:197421070 [GRCh38]
Chr1:197390200 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2459C>T (p.Ser820Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV002966876] Chr1:197427784 [GRCh38]
Chr1:197396914 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3111G>C (p.Val1037=) single nucleotide variant Retinitis pigmentosa 12 [RCV002578105] Chr1:197434974 [GRCh38]
Chr1:197404104 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3112_3113dup (p.Leu1039fs) duplication Retinitis pigmentosa 12 [RCV003009549] Chr1:197434974..197434975 [GRCh38]
Chr1:197404104..197404105 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.423T>A (p.Ala141=) single nucleotide variant Retinitis pigmentosa 12 [RCV003045676] Chr1:197328774 [GRCh38]
Chr1:197297904 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3232A>G (p.Thr1078Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV002600563] Chr1:197435095 [GRCh38]
Chr1:197404225 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2682C>T (p.Asn894=) single nucleotide variant Retinitis pigmentosa 12 [RCV003044597] Chr1:197429454 [GRCh38]
Chr1:197398584 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4014T>A (p.Asp1338Glu) single nucleotide variant Retinitis pigmentosa 12 [RCV003087849] Chr1:197477672 [GRCh38]
Chr1:197446802 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3041G>A (p.Ser1014Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV002895548] Chr1:197434904 [GRCh38]
Chr1:197404034 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3418T>G (p.Leu1140Val) single nucleotide variant Retinitis pigmentosa 12 [RCV003028866] Chr1:197435281 [GRCh38]
Chr1:197404411 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1734G>A (p.Val578=) single nucleotide variant Retinitis pigmentosa 12 [RCV002834410] Chr1:197421562 [GRCh38]
Chr1:197390692 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1779G>A (p.Ala593=) single nucleotide variant Retinitis pigmentosa 12 [RCV003088916] Chr1:197421607 [GRCh38]
Chr1:197390737 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.866C>A (p.Thr289Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV002856294] Chr1:197347357 [GRCh38]
Chr1:197316487 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.629G>A (p.Cys210Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV003026278] Chr1:197328980 [GRCh38]
Chr1:197298110 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3142_3149del (p.Thr1048fs) deletion Retinitis pigmentosa 12 [RCV002833449] Chr1:197435001..197435008 [GRCh38]
Chr1:197404131..197404138 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1263C>T (p.Cys421=) single nucleotide variant Retinitis pigmentosa 12 [RCV003028642] Chr1:197421091 [GRCh38]
Chr1:197390221 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1181G>T (p.Cys394Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV003026335] Chr1:197421009 [GRCh38]
Chr1:197390139 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2129-20C>T single nucleotide variant Retinitis pigmentosa 12 [RCV002650905] Chr1:197427434 [GRCh38]
Chr1:197396564 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2805C>T (p.His935=) single nucleotide variant Retinitis pigmentosa 12 [RCV003011511] Chr1:197429577 [GRCh38]
Chr1:197398707 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.62A>G (p.Tyr21Cys) single nucleotide variant Retinitis pigmentosa 12 [RCV003047546] Chr1:197268474 [GRCh38]
Chr1:197237604 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.551A>G (p.Asp184Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV002601982] Chr1:197328902 [GRCh38]
Chr1:197298032 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2612A>G (p.Asn871Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV002963173] Chr1:197427937 [GRCh38]
Chr1:197397067 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1258A>G (p.Thr420Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV002720296] Chr1:197421086 [GRCh38]
Chr1:197390216 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2727C>A (p.Phe909Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV003048179] Chr1:197429499 [GRCh38]
Chr1:197398629 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.425del (p.Gly142fs) deletion Retinitis pigmentosa 12 [RCV003010297] Chr1:197328775 [GRCh38]
Chr1:197297905 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1005G>T (p.Gln335His) single nucleotide variant Retinitis pigmentosa 12 [RCV003045814] Chr1:197356847 [GRCh38]
Chr1:197325977 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2133T>C (p.Tyr711=) single nucleotide variant Retinitis pigmentosa 12 [RCV002600936] Chr1:197427458 [GRCh38]
Chr1:197396588 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.743del (p.Cys248fs) deletion Retinitis pigmentosa 12 [RCV003061908] Chr1:197344371 [GRCh38]
Chr1:197313501 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1020C>T (p.Leu340=) single nucleotide variant Retinitis pigmentosa 12 [RCV003086265] Chr1:197356862 [GRCh38]
Chr1:197325992 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3729T>G (p.Asn1243Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV003044949] Chr1:197435592 [GRCh38]
Chr1:197404722 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3312C>G (p.Gly1104=) single nucleotide variant Retinitis pigmentosa 12 [RCV002810548] Chr1:197435175 [GRCh38]
Chr1:197404305 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.578A>G (p.Asp193Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV003090982] Chr1:197328929 [GRCh38]
Chr1:197298059 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3679G>A (p.Ala1227Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV002631815] Chr1:197435542 [GRCh38]
Chr1:197404672 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2985G>T (p.Glu995Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV002962228] Chr1:197434848 [GRCh38]
Chr1:197403978 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3630del (p.Cys1211fs) deletion Retinitis pigmentosa 12 [RCV003047386] Chr1:197435493 [GRCh38]
Chr1:197404623 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3507_3508del (p.Trp1169fs) deletion Retinitis pigmentosa 12 [RCV003030352] Chr1:197435370..197435371 [GRCh38]
Chr1:197404500..197404501 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.378T>A (p.His126Gln) single nucleotide variant Inborn genetic diseases [RCV002769158] Chr1:197328729 [GRCh38]
Chr1:197297859 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1171+15A>G single nucleotide variant Retinitis pigmentosa 12 [RCV002770066] Chr1:197357028 [GRCh38]
Chr1:197326158 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4005+2T>G single nucleotide variant Retinitis pigmentosa 12 [RCV002651390] Chr1:197442294 [GRCh38]
Chr1:197411424 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.84T>C (p.Asn28=) single nucleotide variant Retinitis pigmentosa 12 [RCV002599873] Chr1:197328435 [GRCh38]
Chr1:197297565 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.218C>T (p.Pro73Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV003086496] Chr1:197328569 [GRCh38]
Chr1:197297699 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.823G>A (p.Gly275Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002581921] Chr1:197344451 [GRCh38]
Chr1:197313581 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.549C>A (p.Cys183Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475411]|Retinitis pigmentosa 12 [RCV002671469] Chr1:197328900 [GRCh38]
Chr1:197298030 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2822C>T (p.Pro941Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV002598839] Chr1:197429594 [GRCh38]
Chr1:197398724 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2280T>C (p.Tyr760=) single nucleotide variant Retinitis pigmentosa 12 [RCV003044951] Chr1:197427605 [GRCh38]
Chr1:197396735 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2806G>T (p.Gly936Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475431]|Retinitis pigmentosa 12 [RCV002833622] Chr1:197429578 [GRCh38]
Chr1:197398708 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2839G>C (p.Glu947Gln) single nucleotide variant Retinitis pigmentosa 12 [RCV002833623] Chr1:197429611 [GRCh38]
Chr1:197398741 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2676+4A>G single nucleotide variant Retinitis pigmentosa 12 [RCV003090289] Chr1:197428005 [GRCh38]
Chr1:197397135 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2843-4_2843-2del deletion Retinitis pigmentosa 12 [RCV003091266] Chr1:197434701..197434703 [GRCh38]
Chr1:197403831..197403833 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.653-11T>G single nucleotide variant Retinitis pigmentosa 12 [RCV002811137] Chr1:197344270 [GRCh38]
Chr1:197313400 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3312C>T (p.Gly1104=) single nucleotide variant Retinitis pigmentosa 12 [RCV003031504] Chr1:197435175 [GRCh38]
Chr1:197404305 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1996G>A (p.Val666Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV003086096] Chr1:197421824 [GRCh38]
Chr1:197390954 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2779T>C (p.Trp927Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV003092832] Chr1:197429551 [GRCh38]
Chr1:197398681 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2842T>G (p.Cys948Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV002943326] Chr1:197429614 [GRCh38]
Chr1:197398744 [GRCh37]
Chr1:1q31.3
likely pathogenic|uncertain significance
NM_201253.3(CRB1):c.988+13dup duplication Retinitis pigmentosa 12 [RCV002583402] Chr1:197347488..197347489 [GRCh38]
Chr1:197316618..197316619 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.2334C>G (p.Asn778Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV003068386] Chr1:197427659 [GRCh38]
Chr1:197396789 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2677-13C>A single nucleotide variant Retinitis pigmentosa 12 [RCV003092459] Chr1:197429436 [GRCh38]
Chr1:197398566 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2645C>T (p.Thr882Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV002634225] Chr1:197427970 [GRCh38]
Chr1:197397100 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.833T>C (p.Val278Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV002725568] Chr1:197344461 [GRCh38]
Chr1:197313591 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3987C>T (p.Gly1329=) single nucleotide variant Retinitis pigmentosa 12 [RCV003069323] Chr1:197442274 [GRCh38]
Chr1:197411404 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2198A>G (p.Tyr733Cys) single nucleotide variant Retinitis pigmentosa 12 [RCV002943592] Chr1:197427523 [GRCh38]
Chr1:197396653 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1196A>G (p.Asn399Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV003069128] Chr1:197421024 [GRCh38]
Chr1:197390154 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3373T>C (p.Phe1125Leu) single nucleotide variant Retinitis pigmentosa 12 [RCV003072950] Chr1:197435236 [GRCh38]
Chr1:197404366 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1873G>A (p.Val625Ile) single nucleotide variant Retinitis pigmentosa 12 [RCV002586130] Chr1:197421701 [GRCh38]
Chr1:197390831 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.40C>T (p.Leu14Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV003072027] Chr1:197268452 [GRCh38]
Chr1:197237582 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3282A>C (p.Gln1094His) single nucleotide variant Retinitis pigmentosa 12 [RCV002606049] Chr1:197435145 [GRCh38]
Chr1:197404275 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2565A>G (p.Val855=) single nucleotide variant Retinitis pigmentosa 12 [RCV002635741] Chr1:197427890 [GRCh38]
Chr1:197397020 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4202C>A (p.Ala1401Glu) single nucleotide variant Retinitis pigmentosa 12 [RCV003071035] Chr1:197477860 [GRCh38]
Chr1:197446990 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.775T>C (p.Cys259Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV003050951] Chr1:197344403 [GRCh38]
Chr1:197313533 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3878+10_3878+17del deletion Retinitis pigmentosa 12 [RCV002608955] Chr1:197438684..197438691 [GRCh38]
Chr1:197407814..197407821 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.328A>G (p.Thr110Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV003051444] Chr1:197328679 [GRCh38]
Chr1:197297809 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.716G>A (p.Cys239Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV003050338] Chr1:197344344 [GRCh38]
Chr1:197313474 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.757G>A (p.Gly253Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV002609973] Chr1:197344385 [GRCh38]
Chr1:197313515 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1032_1033dup (p.Ser345fs) duplication Retinitis pigmentosa 12 [RCV003051851] Chr1:197356872..197356873 [GRCh38]
Chr1:197326002..197326003 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3152G>A (p.Trp1051Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV002634327] Chr1:197435015 [GRCh38]
Chr1:197404145 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.955A>C (p.Ser319Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV003068891] Chr1:197347446 [GRCh38]
Chr1:197316576 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3996C>T (p.Cys1332=) single nucleotide variant Retinitis pigmentosa 12 [RCV002589846] Chr1:197442283 [GRCh38]
Chr1:197411413 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3258T>C (p.Ala1086=) single nucleotide variant Retinitis pigmentosa 12 [RCV003068976] Chr1:197435121 [GRCh38]
Chr1:197404251 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.550G>A (p.Asp184Asn) single nucleotide variant Retinitis pigmentosa 12 [RCV003068987] Chr1:197328901 [GRCh38]
Chr1:197298031 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1278T>G (p.Asp426Glu) single nucleotide variant Retinitis pigmentosa 12 [RCV003070978] Chr1:197421106 [GRCh38]
Chr1:197390236 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3438C>T (p.Asn1146=) single nucleotide variant Retinitis pigmentosa 12 [RCV003073420] Chr1:197435301 [GRCh38]
Chr1:197404431 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1795C>T (p.Leu599Phe) single nucleotide variant Inborn genetic diseases [RCV003277782] Chr1:197421623 [GRCh38]
Chr1:197390753 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3017C>A (p.Ser1006Tyr) single nucleotide variant Leber congenital amaurosis 8 [RCV003475547]|Retinitis pigmentosa 12 [RCV003228863] Chr1:197434880 [GRCh38]
Chr1:197404010 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.2426A>G (p.Gln809Arg) single nucleotide variant Inborn genetic diseases [RCV003200771] Chr1:197427751 [GRCh38]
Chr1:197396881 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3275G>A (p.Gly1092Asp) single nucleotide variant not provided [RCV003145882] Chr1:197435138 [GRCh38]
Chr1:197404268 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.92A>C (p.Asn31Thr) single nucleotide variant Inborn genetic diseases [RCV003304125] Chr1:197328443 [GRCh38]
Chr1:197297573 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.4202C>T (p.Ala1401Val) single nucleotide variant Inborn genetic diseases [RCV003198737] Chr1:197477860 [GRCh38]
Chr1:197446990 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.178G>A (p.Ala60Thr) single nucleotide variant Inborn genetic diseases [RCV003203296] Chr1:197328529 [GRCh38]
Chr1:197297659 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3520T>G (p.Cys1174Gly) single nucleotide variant not specified [RCV003324289] Chr1:197435383 [GRCh38]
Chr1:197404513 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1885A>G (p.Asn629Asp) single nucleotide variant not specified [RCV003324288] Chr1:197421713 [GRCh38]
Chr1:197390843 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.936T>G (p.Asn312Lys) single nucleotide variant not specified [RCV003324286] Chr1:197347427 [GRCh38]
Chr1:197316557 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs) microsatellite Leber congenital amaurosis [RCV003324693] Chr1:197435486..197435487 [GRCh38]
Chr1:197404616..197404617 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3257C>T (p.Ala1086Val) single nucleotide variant Inborn genetic diseases [RCV003309350] Chr1:197435120 [GRCh38]
Chr1:197404250 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1777G>A (p.Ala593Thr) single nucleotide variant not specified [RCV003324287] Chr1:197421605 [GRCh38]
Chr1:197390735 [GRCh37]
Chr1:1q31.3
uncertain significance
GRCh38/hg38 1q31.3(chr1:197435257-197441674)x0 copy number loss Retinitis pigmentosa 12 [RCV003327690] Chr1:197435257..197441674 [GRCh38]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1597G>A (p.Val533Met) single nucleotide variant Inborn genetic diseases [RCV003378688] Chr1:197421425 [GRCh38]
Chr1:197390555 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.965A>G (p.Asn322Ser) single nucleotide variant Inborn genetic diseases [RCV003381224] Chr1:197347456 [GRCh38]
Chr1:197316586 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1688G>C (p.Ser563Thr) single nucleotide variant not specified [RCV003331815] Chr1:197421516 [GRCh38]
Chr1:197390646 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3163G>C (p.Val1055Leu) single nucleotide variant Inborn genetic diseases [RCV003374882] Chr1:197435026 [GRCh38]
Chr1:197404156 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2596C>A (p.Pro866Thr) single nucleotide variant not provided [RCV003456682] Chr1:197427921 [GRCh38]
Chr1:197397051 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1426del (p.Thr476fs) deletion Leber congenital amaurosis 8 [RCV003475753] Chr1:197421254 [GRCh38]
Chr1:197390384 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2677-1G>T single nucleotide variant Leber congenital amaurosis 8 [RCV003475759] Chr1:197429448 [GRCh38]
Chr1:197398578 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2785_2787delinsTG (p.Gly929fs) indel Leber congenital amaurosis 8 [RCV003475760] Chr1:197429557..197429559 [GRCh38]
Chr1:197398687..197398689 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.679G>T (p.Glu227Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475766] Chr1:197344307 [GRCh38]
Chr1:197313437 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3847del (p.Cys1283fs) deletion Leber congenital amaurosis 8 [RCV003475784] Chr1:197438644 [GRCh38]
Chr1:197407774 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3318T>G (p.Tyr1106Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475788] Chr1:197435181 [GRCh38]
Chr1:197404311 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.721del (p.Asp241fs) deletion Leber congenital amaurosis 8 [RCV003475789] Chr1:197344348 [GRCh38]
Chr1:197313478 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3194del (p.Thr1065fs) deletion Leber congenital amaurosis 8 [RCV003475749] Chr1:197435057 [GRCh38]
Chr1:197404187 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.712dup (p.Thr238fs) duplication Leber congenital amaurosis 8 [RCV003475762] Chr1:197344338..197344339 [GRCh38]
Chr1:197313468..197313469 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.456T>A (p.Cys152Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475765] Chr1:197328807 [GRCh38]
Chr1:197297937 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2981_2982del (p.Lys994fs) deletion Leber congenital amaurosis 8 [RCV003475772] Chr1:197434841..197434842 [GRCh38]
Chr1:197403971..197403972 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3620_3630delinsGACA (p.Thr1207fs) indel Leber congenital amaurosis 8 [RCV003475780] Chr1:197435483..197435493 [GRCh38]
Chr1:197404613..197404623 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2751A>T (p.Thr917=) single nucleotide variant Retinitis pigmentosa 12 [RCV003792404] Chr1:197429523 [GRCh38]
Chr1:197398653 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3681C>A (p.Ala1227=) single nucleotide variant Retinitis pigmentosa 12 [RCV003781553] Chr1:197435544 [GRCh38]
Chr1:197404674 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2487C>T (p.Val829=) single nucleotide variant Retinitis pigmentosa 12 [RCV003791879] Chr1:197427812 [GRCh38]
Chr1:197396942 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-17T>A single nucleotide variant Retinitis pigmentosa 12 [RCV003781619] Chr1:197328405 [GRCh38]
Chr1:197297535 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3878+17C>A single nucleotide variant Retinitis pigmentosa 12 [RCV003790930] Chr1:197438692 [GRCh38]
Chr1:197407822 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3749+1G>C single nucleotide variant Leber congenital amaurosis 8 [RCV003475751] Chr1:197435613 [GRCh38]
Chr1:197404743 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2263_2272del (p.Leu755fs) deletion Leber congenital amaurosis 8 [RCV003475754] Chr1:197427588..197427597 [GRCh38]
Chr1:197396718..197396727 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.894_895del (p.Cys298_Glu299delinsTer) microsatellite Leber congenital amaurosis 8 [RCV003475770] Chr1:197347383..197347384 [GRCh38]
Chr1:197316513..197316514 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3961del (p.Cys1321fs) deletion Leber congenital amaurosis 8 [RCV003475776] Chr1:197442248 [GRCh38]
Chr1:197411378 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1268del (p.Cys423fs) deletion Leber congenital amaurosis 8 [RCV003475791] Chr1:197421096 [GRCh38]
Chr1:197390226 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.918G>A (p.Trp306Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475748] Chr1:197347409 [GRCh38]
Chr1:197316539 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1901del (p.Pro634fs) deletion Leber congenital amaurosis 8 [RCV003475768] Chr1:197421728 [GRCh38]
Chr1:197390858 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2035C>T (p.Gln679Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475773] Chr1:197421863 [GRCh38]
Chr1:197390993 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2676+1G>A single nucleotide variant Leber congenital amaurosis 8 [RCV003475774] Chr1:197428002 [GRCh38]
Chr1:197397132 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2704del (p.Cys902fs) deletion Leber congenital amaurosis 8 [RCV003475778] Chr1:197429474 [GRCh38]
Chr1:197398604 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2096_2100dup (p.Pro701fs) duplication Leber congenital amaurosis 8 [RCV003475743] Chr1:197421923..197421924 [GRCh38]
Chr1:197391053..197391054 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2172T>A (p.Tyr724Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475747] Chr1:197427497 [GRCh38]
Chr1:197396627 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3157A>G (p.Met1053Val) single nucleotide variant Leber congenital amaurosis 8 [RCV003475771] Chr1:197435020 [GRCh38]
Chr1:197404150 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1078G>T (p.Glu360Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475750] Chr1:197356920 [GRCh38]
Chr1:197326050 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.139del (p.Asp47fs) deletion Leber congenital amaurosis 8 [RCV003475752] Chr1:197328490 [GRCh38]
Chr1:197297620 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.624T>G (p.Tyr208Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475761] Chr1:197328975 [GRCh38]
Chr1:197298105 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.3673_3674dup (p.Asn1225fs) duplication Leber congenital amaurosis 8 [RCV003475763] Chr1:197435534..197435535 [GRCh38]
Chr1:197404664..197404665 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1003C>T (p.Gln335Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475786] Chr1:197356845 [GRCh38]
Chr1:197325975 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2246C>G (p.Ser749Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475787] Chr1:197427571 [GRCh38]
Chr1:197396701 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1655del (p.Gln551_Ser552insTer) deletion CRB1-related condition [RCV003397576] Chr1:197421483 [GRCh38]
Chr1:197390613 [GRCh37]
Chr1:1q31.3
pathogenic|likely pathogenic
NM_201253.3(CRB1):c.71delA deletion Leber congenital amaurosis 8 [RCV003455894]|Retinitis pigmentosa 12 [RCV003455893] Chr1:197328422 [GRCh38]
Chr1:197297552 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1172-18T>G single nucleotide variant Retinitis pigmentosa 12 [RCV003791233] Chr1:197420982 [GRCh38]
Chr1:197390112 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2703T>C (p.Val901=) single nucleotide variant Retinitis pigmentosa 12 [RCV003791339] Chr1:197429475 [GRCh38]
Chr1:197398605 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.848+2T>C single nucleotide variant Leber congenital amaurosis 8 [RCV003475758] Chr1:197344478 [GRCh38]
Chr1:197313608 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1665dup (p.Leu556fs) duplication Leber congenital amaurosis 8 [RCV003475767] Chr1:197421491..197421492 [GRCh38]
Chr1:197390621..197390622 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2570_2574del (p.Leu857fs) deletion Leber congenital amaurosis 8 [RCV003475781] Chr1:197427893..197427897 [GRCh38]
Chr1:197397023..197397027 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2832del (p.Gly945fs) deletion Leber congenital amaurosis 8 [RCV003475782] Chr1:197429603 [GRCh38]
Chr1:197398733 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2536G>T (p.Gly846Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475790] Chr1:197427861 [GRCh38]
Chr1:197396991 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1743C>A (p.Thr581=) single nucleotide variant Retinitis pigmentosa 12 [RCV003791662] Chr1:197421571 [GRCh38]
Chr1:197390701 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3093T>C (p.Asp1031=) single nucleotide variant Retinitis pigmentosa 12 [RCV003791753] Chr1:197434956 [GRCh38]
Chr1:197404086 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2877T>A (p.Gly959=) single nucleotide variant Retinitis pigmentosa 12 [RCV003781476] Chr1:197434740 [GRCh38]
Chr1:197403870 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3415C>T (p.Gln1139Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475755] Chr1:197435278 [GRCh38]
Chr1:197404408 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1465G>T (p.Glu489Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475756] Chr1:197421293 [GRCh38]
Chr1:197390423 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1219C>T (p.Gln407Ter) single nucleotide variant Leber congenital amaurosis 8 [RCV003475783] Chr1:197421047 [GRCh38]
Chr1:197390177 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1633delinsAA (p.Ser545fs) indel Leber congenital amaurosis 8 [RCV003475785] Chr1:197421461 [GRCh38]
Chr1:197390591 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3343_3352del (p.Gly1115fs) deletion Leber congenital amaurosis 8 [RCV003475764] Chr1:197435206..197435215 [GRCh38]
Chr1:197404336..197404345 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3712T>C (p.Cys1238Arg) single nucleotide variant Leber congenital amaurosis 8 [RCV003475777] Chr1:197435575 [GRCh38]
Chr1:197404705 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3874G>C (p.Glu1292Gln) single nucleotide variant Pigmented paravenous retinochoroidal atrophy [RCV003444478] Chr1:197438671 [GRCh38]
Chr1:197407801 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3871G>A (p.Gly1291Arg) single nucleotide variant not provided [RCV003421353] Chr1:197438668 [GRCh38]
Chr1:197407798 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1861A>G (p.Thr621Ala) single nucleotide variant CRB1-related condition [RCV003405843] Chr1:197421689 [GRCh38]
Chr1:197390819 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.396T>C (p.Pro132=) single nucleotide variant Retinitis pigmentosa 12 [RCV003807154] Chr1:197328747 [GRCh38]
Chr1:197297877 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-20T>C single nucleotide variant Retinitis pigmentosa 12 [RCV003797442] Chr1:197328402 [GRCh38]
Chr1:197297532 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1356T>C (p.Asn452=) single nucleotide variant Retinitis pigmentosa 12 [RCV003797044] Chr1:197421184 [GRCh38]
Chr1:197390314 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4006-19A>G single nucleotide variant Retinitis pigmentosa 12 [RCV003781996] Chr1:197477645 [GRCh38]
Chr1:197446775 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4047C>A (p.Gly1349=) single nucleotide variant Retinitis pigmentosa 12 [RCV003782049] Chr1:197477705 [GRCh38]
Chr1:197446835 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1557A>G (p.Pro519=) single nucleotide variant Retinitis pigmentosa 12 [RCV003805307] Chr1:197421385 [GRCh38]
Chr1:197390515 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3891C>T (p.Asp1297=) single nucleotide variant Retinitis pigmentosa 12 [RCV003797479] Chr1:197442178 [GRCh38]
Chr1:197411308 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1017C>T (p.Asp339=) single nucleotide variant Retinitis pigmentosa 12 [RCV003790808] Chr1:197356859 [GRCh38]
Chr1:197325989 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2842+10G>A single nucleotide variant Retinitis pigmentosa 12 [RCV003797028] Chr1:197429624 [GRCh38]
Chr1:197398754 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.828G>T (p.Leu276=) single nucleotide variant Retinitis pigmentosa 12 [RCV003788658] Chr1:197344456 [GRCh38]
Chr1:197313586 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.653-5A>G single nucleotide variant Retinitis pigmentosa 12 [RCV003796577] Chr1:197344276 [GRCh38]
Chr1:197313406 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3408C>G (p.Gly1136=) single nucleotide variant Retinitis pigmentosa 12 [RCV003796713] Chr1:197435271 [GRCh38]
Chr1:197404401 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1571T>C (p.Leu524Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV003790162] Chr1:197421399 [GRCh38]
Chr1:197390529 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2174T>C (p.Val725Ala) single nucleotide variant Retinitis pigmentosa 12 [RCV003784978] Chr1:197427499 [GRCh38]
Chr1:197396629 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3075T>C (p.Ser1025=) single nucleotide variant Retinitis pigmentosa 12 [RCV003796547] Chr1:197434938 [GRCh38]
Chr1:197404068 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2655T>C (p.Cys885=) single nucleotide variant Retinitis pigmentosa 12 [RCV003805872] Chr1:197427980 [GRCh38]
Chr1:197397110 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2567G>A (p.Arg856Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV003805881] Chr1:197427892 [GRCh38]
Chr1:197397022 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2129-1G>A single nucleotide variant Retinitis pigmentosa 12 [RCV003797797] Chr1:197427453 [GRCh38]
Chr1:197396583 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2967A>T (p.Ile989=) single nucleotide variant Retinitis pigmentosa 12 [RCV003791738] Chr1:197434830 [GRCh38]
Chr1:197403960 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.848+17G>T single nucleotide variant Retinitis pigmentosa 12 [RCV003790332] Chr1:197344493 [GRCh38]
Chr1:197313623 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3621T>C (p.Thr1207=) single nucleotide variant Retinitis pigmentosa 12 [RCV003785127] Chr1:197435484 [GRCh38]
Chr1:197404614 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2847T>C (p.Ile949=) single nucleotide variant Retinitis pigmentosa 12 [RCV003797529] Chr1:197434710 [GRCh38]
Chr1:197403840 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2582del (p.Asn861fs) deletion Retinitis pigmentosa 12 [RCV003780958] Chr1:197427904 [GRCh38]
Chr1:197397034 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.60C>T (p.Ile20=) single nucleotide variant Retinitis pigmentosa 12 [RCV003782754] Chr1:197268472 [GRCh38]
Chr1:197237602 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1879C>T (p.Leu627=) single nucleotide variant Retinitis pigmentosa 12 [RCV003804578] Chr1:197421707 [GRCh38]
Chr1:197390837 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.849-4C>T single nucleotide variant Retinitis pigmentosa 12 [RCV003794563] Chr1:197347336 [GRCh38]
Chr1:197316466 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2881del (p.Ile961fs) deletion Retinitis pigmentosa 12 [RCV003782949] Chr1:197434742 [GRCh38]
Chr1:197403872 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2842+20A>G single nucleotide variant Retinitis pigmentosa 12 [RCV003797168] Chr1:197429634 [GRCh38]
Chr1:197398764 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3189C>T (p.Thr1063=) single nucleotide variant Retinitis pigmentosa 12 [RCV003807430] Chr1:197435052 [GRCh38]
Chr1:197404182 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2796G>C (p.Pro932=) single nucleotide variant Retinitis pigmentosa 12 [RCV003790653] Chr1:197429568 [GRCh38]
Chr1:197398698 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.413C>A (p.Ala138Asp) single nucleotide variant Retinitis pigmentosa 12 [RCV003804934] Chr1:197328764 [GRCh38]
Chr1:197297894 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2842+9A>T single nucleotide variant Retinitis pigmentosa 12 [RCV003796203] Chr1:197429623 [GRCh38]
Chr1:197398753 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2128+18del deletion Retinitis pigmentosa 12 [RCV003785294] Chr1:197421974 [GRCh38]
Chr1:197391104 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1055_1063del (p.Gly352_Cys354del) deletion Retinitis pigmentosa 12 [RCV003780954] Chr1:197356895..197356903 [GRCh38]
Chr1:197326025..197326033 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2677-20T>C single nucleotide variant Retinitis pigmentosa 12 [RCV003782714] Chr1:197429429 [GRCh38]
Chr1:197398559 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2966T>C (p.Ile989Thr) single nucleotide variant Retinitis pigmentosa 12 [RCV003780960] Chr1:197434829 [GRCh38]
Chr1:197403959 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3687C>A (p.Cys1229Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV003780962] Chr1:197435550 [GRCh38]
Chr1:197404680 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2775T>G (p.Val925=) single nucleotide variant Retinitis pigmentosa 12 [RCV003791088] Chr1:197429547 [GRCh38]
Chr1:197398677 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4101T>C (p.Val1367=) single nucleotide variant Retinitis pigmentosa 12 [RCV003804783] Chr1:197477759 [GRCh38]
Chr1:197446889 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1095C>T (p.Arg365=) single nucleotide variant Retinitis pigmentosa 12 [RCV003785445] Chr1:197356937 [GRCh38]
Chr1:197326067 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.5del (p.Ala2fs) deletion Retinitis pigmentosa 12 [RCV003795245] Chr1:197268417 [GRCh38]
Chr1:197237547 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2129-7A>C single nucleotide variant Retinitis pigmentosa 12 [RCV003793865] Chr1:197427447 [GRCh38]
Chr1:197396577 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4164C>T (p.Gly1388=) single nucleotide variant Retinitis pigmentosa 12 [RCV003804684] Chr1:197477822 [GRCh38]
Chr1:197446952 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3749+18A>C single nucleotide variant Retinitis pigmentosa 12 [RCV003805418] Chr1:197435630 [GRCh38]
Chr1:197404760 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.344_356dup (p.Cys119fs) duplication Retinitis pigmentosa 12 [RCV003805421] Chr1:197328692..197328693 [GRCh38]
Chr1:197297822..197297823 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1932A>G (p.Gln644=) single nucleotide variant Retinitis pigmentosa 12 [RCV003796442] Chr1:197421760 [GRCh38]
Chr1:197390890 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2307C>G (p.Arg769=) single nucleotide variant Retinitis pigmentosa 12 [RCV003806700] Chr1:197427632 [GRCh38]
Chr1:197396762 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.99G>A (p.Arg33=) single nucleotide variant Retinitis pigmentosa 12 [RCV003784233] Chr1:197328450 [GRCh38]
Chr1:197297580 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1266T>C (p.His422=) single nucleotide variant Retinitis pigmentosa 12 [RCV003796087] Chr1:197421094 [GRCh38]
Chr1:197390224 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.71-5del deletion Retinitis pigmentosa 12 [RCV003787702] Chr1:197328416 [GRCh38]
Chr1:197297546 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1147T>G (p.Cys383Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV003784984] Chr1:197356989 [GRCh38]
Chr1:197326119 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2130G>A (p.Glu710=) single nucleotide variant Retinitis pigmentosa 12 [RCV003780647] Chr1:197427455 [GRCh38]
Chr1:197396585 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.948T>C (p.Cys316=) single nucleotide variant Retinitis pigmentosa 12 [RCV003804251] Chr1:197347439 [GRCh38]
Chr1:197316569 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2382C>T (p.His794=) single nucleotide variant Retinitis pigmentosa 12 [RCV003804845] Chr1:197427707 [GRCh38]
Chr1:197396837 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.438G>A (p.Glu146=) single nucleotide variant Retinitis pigmentosa 12 [RCV003787108] Chr1:197328789 [GRCh38]
Chr1:197297919 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.653-6del deletion Retinitis pigmentosa 12 [RCV003793339] Chr1:197344270 [GRCh38]
Chr1:197313400 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.3267T>C (p.Asn1089=) single nucleotide variant Retinitis pigmentosa 12 [RCV003789369] Chr1:197435130 [GRCh38]
Chr1:197404260 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3972T>C (p.Asp1324=) single nucleotide variant Retinitis pigmentosa 12 [RCV003793401] Chr1:197442259 [GRCh38]
Chr1:197411389 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3878+12T>C single nucleotide variant Retinitis pigmentosa 12 [RCV003781272] Chr1:197438687 [GRCh38]
Chr1:197407817 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.70+20G>A single nucleotide variant Retinitis pigmentosa 12 [RCV003792701] Chr1:197268502 [GRCh38]
Chr1:197237632 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1306A>C (p.Arg436=) single nucleotide variant Retinitis pigmentosa 12 [RCV003781675] Chr1:197421134 [GRCh38]
Chr1:197390264 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1854G>A (p.Val618=) single nucleotide variant Retinitis pigmentosa 12 [RCV003784552] Chr1:197421682 [GRCh38]
Chr1:197390812 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.288C>T (p.Cys96=) single nucleotide variant Retinitis pigmentosa 12 [RCV003789561] Chr1:197328639 [GRCh38]
Chr1:197297769 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.848+12C>T single nucleotide variant Retinitis pigmentosa 12 [RCV003782246] Chr1:197344488 [GRCh38]
Chr1:197313618 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1962C>A (p.Thr654=) single nucleotide variant Retinitis pigmentosa 12 [RCV003780551] Chr1:197421790 [GRCh38]
Chr1:197390920 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.989-16A>T single nucleotide variant Retinitis pigmentosa 12 [RCV003805762] Chr1:197356815 [GRCh38]
Chr1:197325945 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3750-6C>T single nucleotide variant Retinitis pigmentosa 12 [RCV003796771] Chr1:197438541 [GRCh38]
Chr1:197407671 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2843-15A>G single nucleotide variant Retinitis pigmentosa 12 [RCV003782467] Chr1:197434691 [GRCh38]
Chr1:197403821 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3936C>T (p.Cys1312=) single nucleotide variant Retinitis pigmentosa 12 [RCV003804849] Chr1:197442223 [GRCh38]
Chr1:197411353 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3898G>T (p.Glu1300Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV003806234] Chr1:197442185 [GRCh38]
Chr1:197411315 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.954C>T (p.Asp318=) single nucleotide variant Retinitis pigmentosa 12 [RCV003807262] Chr1:197347445 [GRCh38]
Chr1:197316575 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3147C>T (p.Ser1049=) single nucleotide variant Retinitis pigmentosa 12 [RCV003792938] Chr1:197435010 [GRCh38]
Chr1:197404140 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1317T>C (p.Ser439=) single nucleotide variant Retinitis pigmentosa 12 [RCV003788635] Chr1:197421145 [GRCh38]
Chr1:197390275 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.848+17G>A single nucleotide variant Retinitis pigmentosa 12 [RCV003784374] Chr1:197344493 [GRCh38]
Chr1:197313623 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1668G>C (p.Leu556=) single nucleotide variant Retinitis pigmentosa 12 [RCV003806275] Chr1:197421496 [GRCh38]
Chr1:197390626 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1172-13dup duplication Retinitis pigmentosa 12 [RCV003786591] Chr1:197420981..197420982 [GRCh38]
Chr1:197390111..197390112 [GRCh37]
Chr1:1q31.3
benign
NM_201253.3(CRB1):c.2505A>G (p.Leu835=) single nucleotide variant Retinitis pigmentosa 12 [RCV003787249] Chr1:197427830 [GRCh38]
Chr1:197396960 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3623G>T (p.Gly1208Val) single nucleotide variant Retinitis pigmentosa 12 [RCV003781362] Chr1:197435486 [GRCh38]
Chr1:197404616 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.71-18C>T single nucleotide variant Retinitis pigmentosa 12 [RCV003780871] Chr1:197328404 [GRCh38]
Chr1:197297534 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1326C>T (p.Leu442=) single nucleotide variant Retinitis pigmentosa 12 [RCV003806738] Chr1:197421154 [GRCh38]
Chr1:197390284 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.354C>T (p.Ser118=) single nucleotide variant Retinitis pigmentosa 12 [RCV003796135] Chr1:197328705 [GRCh38]
Chr1:197297835 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV003807353] Chr1:197427912 [GRCh38]
Chr1:197397042 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2190T>C (p.Asp730=) single nucleotide variant Retinitis pigmentosa 12 [RCV003807354] Chr1:197427515 [GRCh38]
Chr1:197396645 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2371G>C (p.Gly791Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV003780956] Chr1:197427696 [GRCh38]
Chr1:197396826 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.848+13T>C single nucleotide variant Retinitis pigmentosa 12 [RCV003794798] Chr1:197344489 [GRCh38]
Chr1:197313619 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.848+16C>T single nucleotide variant Retinitis pigmentosa 12 [RCV003784511] Chr1:197344492 [GRCh38]
Chr1:197313622 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.989-12T>G single nucleotide variant Retinitis pigmentosa 12 [RCV003784974] Chr1:197356819 [GRCh38]
Chr1:197325949 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2517A>G (p.Gln839=) single nucleotide variant Retinitis pigmentosa 12 [RCV003784987] Chr1:197427842 [GRCh38]
Chr1:197396972 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2129-5T>G single nucleotide variant Retinitis pigmentosa 12 [RCV003806777] Chr1:197427449 [GRCh38]
Chr1:197396579 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.222C>A (p.Cys74Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV003787130] Chr1:197328573 [GRCh38]
Chr1:197297703 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2969del (p.Leu990fs) deletion Retinitis pigmentosa 12 [RCV003784549] Chr1:197434831 [GRCh38]
Chr1:197403961 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2553T>C (p.Cys851=) single nucleotide variant Retinitis pigmentosa 12 [RCV003781896] Chr1:197427878 [GRCh38]
Chr1:197397008 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3412T>C (p.Leu1138=) single nucleotide variant Retinitis pigmentosa 12 [RCV003789152] Chr1:197435275 [GRCh38]
Chr1:197404405 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4167C>T (p.Ser1389=) single nucleotide variant Retinitis pigmentosa 12 [RCV003793930] Chr1:197477825 [GRCh38]
Chr1:197446955 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.70+18T>G single nucleotide variant Retinitis pigmentosa 12 [RCV003781174] Chr1:197268500 [GRCh38]
Chr1:197237630 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3879-16T>C single nucleotide variant Retinitis pigmentosa 12 [RCV003790973] Chr1:197442150 [GRCh38]
Chr1:197411280 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3538G>T (p.Glu1180Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV003782856] Chr1:197435401 [GRCh38]
Chr1:197404531 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.1902A>G (p.Pro634=) single nucleotide variant Retinitis pigmentosa 12 [RCV003783310] Chr1:197421730 [GRCh38]
Chr1:197390860 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2688T>C (p.Cys896=) single nucleotide variant Retinitis pigmentosa 12 [RCV003789754] Chr1:197429460 [GRCh38]
Chr1:197398590 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3255A>G (p.Arg1085=) single nucleotide variant Retinitis pigmentosa 12 [RCV003780420] Chr1:197435118 [GRCh38]
Chr1:197404248 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3825A>G (p.Thr1275=) single nucleotide variant Retinitis pigmentosa 12 [RCV003782912] Chr1:197438622 [GRCh38]
Chr1:197407752 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.318C>T (p.Ile106=) single nucleotide variant Retinitis pigmentosa 12 [RCV003786973] Chr1:197328669 [GRCh38]
Chr1:197297799 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.454T>C (p.Cys152Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV003781154] Chr1:197328805 [GRCh38]
Chr1:197297935 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.2070G>A (p.Leu690=) single nucleotide variant Retinitis pigmentosa 12 [RCV003781150] Chr1:197421898 [GRCh38]
Chr1:197391028 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1061G>A (p.Cys354Tyr) single nucleotide variant Retinitis pigmentosa 12 [RCV003792389] Chr1:197356903 [GRCh38]
Chr1:197326033 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.70+18T>C single nucleotide variant Retinitis pigmentosa 12 [RCV003788487] Chr1:197268500 [GRCh38]
Chr1:197237630 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1623C>A (p.Tyr541Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV003789290] Chr1:197421451 [GRCh38]
Chr1:197390581 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2129-2A>G single nucleotide variant Retinitis pigmentosa 12 [RCV003792849] Chr1:197427452 [GRCh38]
Chr1:197396582 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2187T>C (p.Leu729=) single nucleotide variant Retinitis pigmentosa 12 [RCV003791432] Chr1:197427512 [GRCh38]
Chr1:197396642 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.768G>A (p.Gly256=) single nucleotide variant Retinitis pigmentosa 12 [RCV003788573] Chr1:197344396 [GRCh38]
Chr1:197313526 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2676+16A>G single nucleotide variant Retinitis pigmentosa 12 [RCV003780861] Chr1:197428017 [GRCh38]
Chr1:197397147 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1194C>G (p.Val398=) single nucleotide variant Retinitis pigmentosa 12 [RCV003782196] Chr1:197421022 [GRCh38]
Chr1:197390152 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2842+8G>T single nucleotide variant Retinitis pigmentosa 12 [RCV003792350] Chr1:197429622 [GRCh38]
Chr1:197398752 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.630dup (p.Ile211fs) duplication Retinitis pigmentosa 12 [RCV003787852] Chr1:197328980..197328981 [GRCh38]
Chr1:197298110..197298111 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3878+17C>G single nucleotide variant Retinitis pigmentosa 12 [RCV003794132] Chr1:197438692 [GRCh38]
Chr1:197407822 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2815T>G (p.Cys939Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV003780959] Chr1:197429587 [GRCh38]
Chr1:197398717 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3879-16T>A single nucleotide variant Retinitis pigmentosa 12 [RCV003787920] Chr1:197442150 [GRCh38]
Chr1:197411280 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3667dup (p.Cys1223fs) duplication Retinitis pigmentosa 12 [RCV003779473] Chr1:197435529..197435530 [GRCh38]
Chr1:197404659..197404660 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2736C>T (p.Ser912=) single nucleotide variant Retinitis pigmentosa 12 [RCV003800919] Chr1:197429508 [GRCh38]
Chr1:197398638 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1593G>T (p.Val531=) single nucleotide variant Retinitis pigmentosa 12 [RCV003798962] Chr1:197421421 [GRCh38]
Chr1:197390551 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.495T>C (p.Asp165=) single nucleotide variant Retinitis pigmentosa 12 [RCV003801088] Chr1:197328846 [GRCh38]
Chr1:197297976 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3288T>A (p.Cys1096Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV003801097] Chr1:197435151 [GRCh38]
Chr1:197404281 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.3729T>C (p.Asn1243=) single nucleotide variant Retinitis pigmentosa 12 [RCV003799114] Chr1:197435592 [GRCh38]
Chr1:197404722 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.988+17C>T single nucleotide variant Retinitis pigmentosa 12 [RCV003810328] Chr1:197347496 [GRCh38]
Chr1:197316626 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2552G>C (p.Cys851Ser) single nucleotide variant Retinitis pigmentosa 12 [RCV003800243] Chr1:197427877 [GRCh38]
Chr1:197397007 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.3012_3014delinsTTT (p.Gln1004_Asp1005delinsHisPhe) indel Retinitis pigmentosa 12 [RCV003800277] Chr1:197434875..197434877 [GRCh38]
Chr1:197404005..197404007 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2159A>G (p.Asp720Gly) single nucleotide variant Retinitis pigmentosa 12 [RCV003798081] Chr1:197427484 [GRCh38]
Chr1:197396614 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.2097C>T (p.His699=) single nucleotide variant Retinitis pigmentosa 12 [RCV003808380] Chr1:197421925 [GRCh38]
Chr1:197391055 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs) deletion Retinitis pigmentosa 12 [RCV003809460] Chr1:197438634..197438635 [GRCh38]
Chr1:197407764..197407765 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.4077C>T (p.Leu1359=) single nucleotide variant Retinitis pigmentosa 12 [RCV003798375] Chr1:197477735 [GRCh38]
Chr1:197446865 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4207G>A (p.Glu1403Lys) single nucleotide variant Retinitis pigmentosa 12 [RCV003800612] Chr1:197477865 [GRCh38]
Chr1:197446995 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1476C>T (p.Gly492=) single nucleotide variant Retinitis pigmentosa 12 [RCV003799622] Chr1:197421304 [GRCh38]
Chr1:197390434 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.652+13AT[3] microsatellite Retinitis pigmentosa 12 [RCV003808801] Chr1:197329015..197329016 [GRCh38]
Chr1:197298145..197298146 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.873T>C (p.Ser291=) single nucleotide variant Retinitis pigmentosa 12 [RCV003809903] Chr1:197347364 [GRCh38]
Chr1:197316494 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.909T>C (p.Pro303=) single nucleotide variant Retinitis pigmentosa 12 [RCV003808852] Chr1:197347400 [GRCh38]
Chr1:197316530 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.70+17T>G single nucleotide variant Retinitis pigmentosa 12 [RCV003799465] Chr1:197268499 [GRCh38]
Chr1:197237629 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.4119G>A (p.Arg1373=) single nucleotide variant Retinitis pigmentosa 12 [RCV003799480] Chr1:197477777 [GRCh38]
Chr1:197446907 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3309A>G (p.Gly1103=) single nucleotide variant Retinitis pigmentosa 12 [RCV003808201] Chr1:197435172 [GRCh38]
Chr1:197404302 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg) single nucleotide variant Retinitis pigmentosa 12 [RCV003809826] Chr1:197442201 [GRCh38]
Chr1:197411331 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.3749+17T>C single nucleotide variant Retinitis pigmentosa 12 [RCV003801238] Chr1:197435629 [GRCh38]
Chr1:197404759 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2687G>T (p.Cys896Phe) single nucleotide variant Retinitis pigmentosa 12 [RCV003808255] Chr1:197429459 [GRCh38]
Chr1:197398589 [GRCh37]
Chr1:1q31.3
likely pathogenic
NM_201253.3(CRB1):c.1593G>A (p.Val531=) single nucleotide variant Retinitis pigmentosa 12 [RCV003809892] Chr1:197421421 [GRCh38]
Chr1:197390551 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2036A>C (p.Gln679Pro) single nucleotide variant Retinitis pigmentosa 12 [RCV003809419] Chr1:197421864 [GRCh38]
Chr1:197390994 [GRCh37]
Chr1:1q31.3
uncertain significance
NM_201253.3(CRB1):c.1002C>T (p.Ala334=) single nucleotide variant Retinitis pigmentosa 12 [RCV003798168] Chr1:197356844 [GRCh38]
Chr1:197325974 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.786C>T (p.Asn262=) single nucleotide variant Retinitis pigmentosa 12 [RCV003808926] Chr1:197344414 [GRCh38]
Chr1:197313544 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.408C>T (p.Cys136=) single nucleotide variant Retinitis pigmentosa 12 [RCV003809000] Chr1:197328759 [GRCh38]
Chr1:197297889 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1389C>G (p.Gly463=) single nucleotide variant Retinitis pigmentosa 12 [RCV003800894] Chr1:197421217 [GRCh38]
Chr1:197390347 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2128+19C>T single nucleotide variant Retinitis pigmentosa 12 [RCV003799804] Chr1:197421975 [GRCh38]
Chr1:197391105 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3411T>C (p.Cys1137=) single nucleotide variant Retinitis pigmentosa 12 [RCV003810022] Chr1:197435274 [GRCh38]
Chr1:197404404 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.228C>T (p.Ser76=) single nucleotide variant Retinitis pigmentosa 12 [RCV003801119] Chr1:197328579 [GRCh38]
Chr1:197297709 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.652+18_652+19del deletion Retinitis pigmentosa 12 [RCV003809108] Chr1:197329021..197329022 [GRCh38]
Chr1:197298151..197298152 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.2958T>C (p.Asn986=) single nucleotide variant Retinitis pigmentosa 12 [RCV003797857] Chr1:197434821 [GRCh38]
Chr1:197403951 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1172-12del deletion Retinitis pigmentosa 12 [RCV003798763] Chr1:197420988 [GRCh38]
Chr1:197390118 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3225G>A (p.Lys1075=) single nucleotide variant Retinitis pigmentosa 12 [RCV003800517] Chr1:197435088 [GRCh38]
Chr1:197404218 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1380C>T (p.Phe460=) single nucleotide variant Retinitis pigmentosa 12 [RCV003800001] Chr1:197421208 [GRCh38]
Chr1:197390338 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3749+15C>G single nucleotide variant Retinitis pigmentosa 12 [RCV003801213] Chr1:197435627 [GRCh38]
Chr1:197404757 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3055_3059dup (p.Met1020fs) duplication Retinitis pigmentosa 12 [RCV003808686] Chr1:197434916..197434917 [GRCh38]
Chr1:197404046..197404047 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2676+11C>A single nucleotide variant Retinitis pigmentosa 12 [RCV003798600] Chr1:197428012 [GRCh38]
Chr1:197397142 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3878+7C>T single nucleotide variant Retinitis pigmentosa 12 [RCV003801426] Chr1:197438682 [GRCh38]
Chr1:197407812 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.652+14T>C single nucleotide variant Retinitis pigmentosa 12 [RCV003801428] Chr1:197329017 [GRCh38]
Chr1:197298147 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.535C>T (p.Gln179Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV003798070] Chr1:197328886 [GRCh38]
Chr1:197298016 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.675T>C (p.Ile225=) single nucleotide variant Retinitis pigmentosa 12 [RCV003799430] Chr1:197344303 [GRCh38]
Chr1:197313433 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter) single nucleotide variant Retinitis pigmentosa 12 [RCV003810306] Chr1:197421072 [GRCh38]
Chr1:197390202 [GRCh37]
Chr1:1q31.3
pathogenic
NM_201253.3(CRB1):c.2843-5A>T single nucleotide variant Retinitis pigmentosa 12 [RCV003810312] Chr1:197434701 [GRCh38]
Chr1:197403831 [GRCh37]
Chr1:1q31.3
likely benign
NM_201253.3(CRB1):c.3348C>T (p.Phe1116=) single nucleotide variant Retinitis pigmentosa 12 [RCV003809452] Chr1:197435211 [GRCh38]
Chr1:197404341 [GRCh37]
Chr1:1q31.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3795
Count of miRNA genes:1204
Interacting mature miRNAs:1513
Transcripts:ENST00000367397, ENST00000367399, ENST00000367400, ENST00000448952, ENST00000475659, ENST00000476483, ENST00000480086, ENST00000484075, ENST00000535699, ENST00000538660, ENST00000543483, ENST00000544212
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-N59646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,447,310 - 197,447,548UniSTSGRCh37
Build 361195,713,933 - 195,714,171RGDNCBI36
Celera1170,572,762 - 170,573,000RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,606,197 - 168,606,435UniSTS
GeneMap99-GB4 RH Map1661.42UniSTS
RH91397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,438,552 - 197,438,708UniSTSGRCh37
Build 361195,705,175 - 195,705,331RGDNCBI36
Celera1170,564,006 - 170,564,162RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,597,440 - 168,597,596UniSTS
GeneMap99-GB4 RH Map1659.95UniSTS
AL034109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,414,458 - 197,414,614UniSTSGRCh37
Build 361195,681,081 - 195,681,237RGDNCBI36
Celera1170,539,952 - 170,540,108RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,573,382 - 168,573,538UniSTS
RH103147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,393,696 - 197,393,836UniSTSGRCh37
Build 361195,660,319 - 195,660,459RGDNCBI36
Celera1170,519,188 - 170,519,328RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,552,619 - 168,552,759UniSTS
GeneMap99-GB4 RH Map1659.95UniSTS
SHGC-83435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,424,794 - 197,425,118UniSTSGRCh37
Build 361195,691,417 - 195,691,741RGDNCBI36
Celera1170,550,247 - 170,550,571RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,583,679 - 168,584,003UniSTS
TNG Radiation Hybrid Map197079.0UniSTS
RH123645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,349,954 - 197,350,249UniSTSGRCh37
Build 361195,616,577 - 195,616,872RGDNCBI36
Celera1170,475,445 - 170,475,740RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,508,926 - 168,509,221UniSTS
TNG Radiation Hybrid Map197108.0UniSTS
TNG Radiation Hybrid Map197104.0UniSTS
RH121207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,241,360 - 197,241,639UniSTSGRCh37
Build 361195,507,983 - 195,508,262RGDNCBI36
Celera1170,366,849 - 170,367,128RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,399,662 - 168,399,941UniSTS
TNG Radiation Hybrid Map197140.0UniSTS
SHGC-148695  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,393,830 - 197,394,179UniSTSGRCh37
Build 361195,660,453 - 195,660,802RGDNCBI36
Celera1170,519,322 - 170,519,671RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,552,753 - 168,553,102UniSTS
TNG Radiation Hybrid Map197096.0UniSTS
G65609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,393,609 - 197,393,859UniSTSGRCh37
Build 361195,660,232 - 195,660,482RGDNCBI36
Celera1170,519,101 - 170,519,351RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,552,532 - 168,552,782UniSTS
AB072758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,316,481 - 197,316,609UniSTSGRCh37
Build 361195,583,104 - 195,583,232RGDNCBI36
Celera1170,441,972 - 170,442,100RGD
HuRef1168,474,822 - 168,474,950UniSTS
AFM329vc1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,413,901 - 197,414,141UniSTSGRCh37
Build 361195,680,524 - 195,680,764RGDNCBI36
Celera1170,539,391 - 170,539,635RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,572,821 - 168,573,065UniSTS
Whitehead-RH Map1815.3UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-76093  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371197,393,708 - 197,393,950UniSTSGRCh37
Build 361195,660,331 - 195,660,573RGDNCBI36
Celera1170,519,200 - 170,519,442RGD
Cytogenetic Map1q31-q32.1UniSTS
HuRef1168,552,631 - 168,552,873UniSTS
TNG Radiation Hybrid Map197096.0UniSTS
GeneMap99-GB4 RH Map1659.98UniSTS
NCBI RH Map11643.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage
High
Medium 2 1 1 1 59 1 2 2 1
Low 5 4 173 12 17 12 136 37 2861 24 457 57 2 121
Below cutoff 2106 2664 1262 358 1099 207 3859 2052 778 265 775 1326 154 1149 2581

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001193640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_201253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054335676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF154671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ748821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY043322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY043323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY043324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY043325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC370545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC370777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT470365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT470366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT470367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000367397   ⟹   ENSP00000356367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,413,829 - 197,444,819 (+)Ensembl
RefSeq Acc Id: ENST00000367399   ⟹   ENSP00000356369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,268,413 - 197,477,879 (+)Ensembl
RefSeq Acc Id: ENST00000367400   ⟹   ENSP00000356370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,268,252 - 197,478,455 (+)Ensembl
RefSeq Acc Id: ENST00000448952   ⟹   ENSP00000395407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,442,170 - 197,478,455 (+)Ensembl
RefSeq Acc Id: ENST00000475659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,268,276 - 197,358,128 (+)Ensembl
RefSeq Acc Id: ENST00000476483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,360,349 - 197,421,441 (+)Ensembl
RefSeq Acc Id: ENST00000480086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,422,811 - 197,427,837 (+)Ensembl
RefSeq Acc Id: ENST00000484075   ⟹   ENSP00000433932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,268,278 - 197,478,455 (+)Ensembl
RefSeq Acc Id: ENST00000535699   ⟹   ENSP00000438786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,268,204 - 197,478,454 (+)Ensembl
RefSeq Acc Id: ENST00000538660   ⟹   ENSP00000438091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,268,204 - 197,478,454 (+)Ensembl
RefSeq Acc Id: ENST00000638467   ⟹   ENSP00000491102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,268,278 - 197,442,500 (+)Ensembl
RefSeq Acc Id: ENST00000681519   ⟹   ENSP00000505267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1197,413,849 - 197,442,513 (+)Ensembl
RefSeq Acc Id: NM_001193640   ⟹   NP_001180569
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,268,252 - 197,478,455 (+)NCBI
GRCh371197,170,592 - 197,447,585 (+)NCBI
HuRef1168,328,124 - 168,606,472 (+)NCBI
CHM1_11198,659,821 - 198,870,040 (+)NCBI
T2T-CHM13v2.01196,530,093 - 196,740,260 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257965   ⟹   NP_001244894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,201,504 - 197,478,455 (+)NCBI
GRCh371197,170,592 - 197,447,585 (+)NCBI
HuRef1168,328,124 - 168,606,472 (+)NCBI
CHM1_11198,593,055 - 198,870,040 (+)NCBI
T2T-CHM13v2.01196,463,348 - 196,740,260 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257966   ⟹   NP_001244895
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,268,252 - 197,478,455 (+)NCBI
GRCh371197,170,592 - 197,447,585 (+)NCBI
HuRef1168,328,124 - 168,606,472 (+)NCBI
CHM1_11198,659,821 - 198,870,040 (+)NCBI
T2T-CHM13v2.01196,530,093 - 196,740,260 (+)NCBI
Sequence:
RefSeq Acc Id: NM_201253   ⟹   NP_957705
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,268,252 - 197,478,455 (+)NCBI
GRCh371197,170,592 - 197,447,585 (+)NCBI
Build 361195,504,031 - 195,714,208 (+)NCBI Archive
HuRef1168,328,124 - 168,606,472 (+)NCBI
CHM1_11198,659,821 - 198,870,040 (+)NCBI
T2T-CHM13v2.01196,530,093 - 196,740,260 (+)NCBI
Sequence:
RefSeq Acc Id: NR_047563
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,268,252 - 197,478,455 (+)NCBI
GRCh371197,170,592 - 197,447,585 (+)NCBI
HuRef1168,328,124 - 168,606,472 (+)NCBI
CHM1_11198,659,821 - 198,870,040 (+)NCBI
T2T-CHM13v2.01196,530,093 - 196,740,260 (+)NCBI
Sequence:
RefSeq Acc Id: NR_047564
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,268,252 - 197,478,455 (+)NCBI
GRCh371197,170,592 - 197,447,585 (+)NCBI
HuRef1168,328,124 - 168,606,472 (+)NCBI
CHM1_11198,659,821 - 198,870,040 (+)NCBI
T2T-CHM13v2.01196,530,093 - 196,740,260 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509365   ⟹   XP_011507667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,268,252 - 197,442,878 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509367   ⟹   XP_011507669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,268,252 - 197,478,455 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011509369   ⟹   XP_011507671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,360,389 - 197,478,455 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000852   ⟹   XP_016856341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,268,252 - 197,478,455 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416572   ⟹   XP_047272528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,302,246 - 197,478,455 (+)NCBI
RefSeq Acc Id: XM_047416573   ⟹   XP_047272529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,201,504 - 197,478,455 (+)NCBI
RefSeq Acc Id: XM_047416574   ⟹   XP_047272530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,268,252 - 197,478,455 (+)NCBI
RefSeq Acc Id: XM_047416575   ⟹   XP_047272531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,344,340 - 197,478,455 (+)NCBI
RefSeq Acc Id: XM_054335669   ⟹   XP_054191644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,530,093 - 196,704,685 (+)NCBI
RefSeq Acc Id: XM_054335670   ⟹   XP_054191645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,564,087 - 196,740,260 (+)NCBI
RefSeq Acc Id: XM_054335671   ⟹   XP_054191646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,463,303 - 196,740,260 (+)NCBI
RefSeq Acc Id: XM_054335672   ⟹   XP_054191647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,530,093 - 196,740,260 (+)NCBI
RefSeq Acc Id: XM_054335673   ⟹   XP_054191648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,530,093 - 196,740,260 (+)NCBI
RefSeq Acc Id: XM_054335674   ⟹   XP_054191649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,606,186 - 196,740,260 (+)NCBI
RefSeq Acc Id: XM_054335675   ⟹   XP_054191650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,622,201 - 196,740,260 (+)NCBI
RefSeq Acc Id: XM_054335676   ⟹   XP_054191651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01196,530,093 - 196,740,260 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001180569 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244894 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244895 (Get FASTA)   NCBI Sequence Viewer  
  NP_957705 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507667 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507669 (Get FASTA)   NCBI Sequence Viewer  
  XP_011507671 (Get FASTA)   NCBI Sequence Viewer  
  XP_016856341 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272528 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272529 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272530 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272531 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191644 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191645 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191646 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191647 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191648 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191649 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191650 (Get FASTA)   NCBI Sequence Viewer  
  XP_054191651 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF01361 (Get FASTA)   NCBI Sequence Viewer  
  AAI36272 (Get FASTA)   NCBI Sequence Viewer  
  AAL10680 (Get FASTA)   NCBI Sequence Viewer  
  AAL10681 (Get FASTA)   NCBI Sequence Viewer  
  AAL10682 (Get FASTA)   NCBI Sequence Viewer  
  BAD92160 (Get FASTA)   NCBI Sequence Viewer  
  BAF82422 (Get FASTA)   NCBI Sequence Viewer  
  BAH13017 (Get FASTA)   NCBI Sequence Viewer  
  BAH13018 (Get FASTA)   NCBI Sequence Viewer  
  BAH13810 (Get FASTA)   NCBI Sequence Viewer  
  BAH13812 (Get FASTA)   NCBI Sequence Viewer  
  CAE45845 (Get FASTA)   NCBI Sequence Viewer  
  CAG38658 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43949 (Get FASTA)   NCBI Sequence Viewer  
  EAW91277 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000356367.1
  ENSP00000356369
  ENSP00000356369.2
  ENSP00000356370
  ENSP00000356370.3
  ENSP00000395407.1
  ENSP00000433932.1
  ENSP00000438091
  ENSP00000438091.1
  ENSP00000438786
  ENSP00000438786.1
  ENSP00000491102
  ENSP00000491102.1
  ENSP00000505267
  ENSP00000505267.1
GenBank Protein P82279 (Get FASTA)   NCBI Sequence Viewer  
  QLY71944 (Get FASTA)   NCBI Sequence Viewer  
  QLY71945 (Get FASTA)   NCBI Sequence Viewer  
  QLY71946 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_957705   ⟸   NM_201253
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8WWY0 (UniProtKB/Swiss-Prot),   Q6N027 (UniProtKB/Swiss-Prot),   Q5VUT1 (UniProtKB/Swiss-Prot),   Q5TC28 (UniProtKB/Swiss-Prot),   Q5K3A6 (UniProtKB/Swiss-Prot),   B9EG71 (UniProtKB/Swiss-Prot),   B7Z5T2 (UniProtKB/Swiss-Prot),   A2A308 (UniProtKB/Swiss-Prot),   Q8WWY1 (UniProtKB/Swiss-Prot),   P82279 (UniProtKB/Swiss-Prot),   A0A7D6VM04 (UniProtKB/TrEMBL),   A8K118 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001180569   ⟸   NM_001193640
- Peptide Label: isoform 2 precursor
- UniProtKB: A8K118 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244894   ⟸   NM_001257965
- Peptide Label: isoform 3
- UniProtKB: B7Z826 (UniProtKB/TrEMBL),   F5H0L2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244895   ⟸   NM_001257966
- Peptide Label: isoform 4 precursor
- UniProtKB: A0A7D6VMU1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507669   ⟸   XM_011509367
- Peptide Label: isoform X3
- UniProtKB: A8K118 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507667   ⟸   XM_011509365
- Peptide Label: isoform X1
- UniProtKB: A8K118 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011507671   ⟸   XM_011509369
- Peptide Label: isoform X6
- UniProtKB: B7Z824 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856341   ⟸   XM_017000852
- Peptide Label: isoform X7
- UniProtKB: A8K118 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000491102   ⟸   ENST00000638467
RefSeq Acc Id: ENSP00000438786   ⟸   ENST00000535699
RefSeq Acc Id: ENSP00000433932   ⟸   ENST00000484075
RefSeq Acc Id: ENSP00000356369   ⟸   ENST00000367399
RefSeq Acc Id: ENSP00000356367   ⟸   ENST00000367397
RefSeq Acc Id: ENSP00000356370   ⟸   ENST00000367400
RefSeq Acc Id: ENSP00000438091   ⟸   ENST00000538660
RefSeq Acc Id: ENSP00000395407   ⟸   ENST00000448952
RefSeq Acc Id: ENSP00000505267   ⟸   ENST00000681519
RefSeq Acc Id: XP_047272529   ⟸   XM_047416573
- Peptide Label: isoform X2
- UniProtKB: B7Z826 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272530   ⟸   XM_047416574
- Peptide Label: isoform X4
- UniProtKB: A8K118 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272528   ⟸   XM_047416572
- Peptide Label: isoform X2
- UniProtKB: B7Z826 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272531   ⟸   XM_047416575
- Peptide Label: isoform X5
- UniProtKB: A0A7D6VLH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191646   ⟸   XM_054335671
- Peptide Label: isoform X2
- UniProtKB: B7Z826 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191651   ⟸   XM_054335676
- Peptide Label: isoform X7
- UniProtKB: A8K118 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191647   ⟸   XM_054335672
- Peptide Label: isoform X3
- UniProtKB: A8K118 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191648   ⟸   XM_054335673
- Peptide Label: isoform X4
- UniProtKB: A8K118 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191644   ⟸   XM_054335669
- Peptide Label: isoform X1
- UniProtKB: A8K118 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191645   ⟸   XM_054335670
- Peptide Label: isoform X2
- UniProtKB: B7Z826 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191649   ⟸   XM_054335674
- Peptide Label: isoform X5
- UniProtKB: A0A7D6VLH9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054191650   ⟸   XM_054335675
- Peptide Label: isoform X6
- UniProtKB: B7Z824 (UniProtKB/TrEMBL)
Protein Domains
EGF-like   Laminin G   Laminin G-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P82279-F1-model_v2 AlphaFold P82279 1-1406 view protein structure

Promoters
RGD ID:6858476
Promoter ID:EPDNEW_H2403
Type:initiation region
Name:CRB1_1
Description:crumbs 1, cell polarity complex component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2404  EPDNEW_H2405  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,201,506 - 197,201,566EPDNEW
RGD ID:6858478
Promoter ID:EPDNEW_H2404
Type:initiation region
Name:CRB1_2
Description:crumbs 1, cell polarity complex component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2403  EPDNEW_H2405  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,268,259 - 197,268,319EPDNEW
RGD ID:6858480
Promoter ID:EPDNEW_H2405
Type:initiation region
Name:CRB1_3
Description:crumbs 1, cell polarity complex component
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2403  EPDNEW_H2404  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381197,442,148 - 197,442,208EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2343 AgrOrtholog
COSMIC CRB1 COSMIC
Ensembl Genes ENSG00000134376 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000367397.1 UniProtKB/TrEMBL
  ENST00000367399 ENTREZGENE
  ENST00000367399.6 UniProtKB/Swiss-Prot
  ENST00000367400 ENTREZGENE
  ENST00000367400.8 UniProtKB/Swiss-Prot
  ENST00000448952.1 UniProtKB/TrEMBL
  ENST00000484075 ENTREZGENE
  ENST00000484075.5 UniProtKB/Swiss-Prot
  ENST00000535699 ENTREZGENE
  ENST00000535699.5 UniProtKB/TrEMBL
  ENST00000538660 ENTREZGENE
  ENST00000538660.5 UniProtKB/Swiss-Prot
  ENST00000638467 ENTREZGENE
  ENST00000638467.1 UniProtKB/Swiss-Prot
  ENST00000681519 ENTREZGENE
  ENST00000681519.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134376 GTEx
HGNC ID HGNC:2343 ENTREZGENE
Human Proteome Map CRB1 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23418 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23418 ENTREZGENE
OMIM 604210 OMIM
PANTHER CRUMBS FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYTOCHROME C OXIDASE POLYPEPTIDE VIC-2 UniProtKB/TrEMBL
  DROSOPHILA CRUMBS HOMOLOG UniProtKB/TrEMBL
  NEUROGENIC LOCUS NOTCH HOMOLOG PROTEIN 1 UniProtKB/TrEMBL
  PROTEIN CRUMBS HOMOLOG 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hEGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26863 PharmGKB
PRINTS EGFBLOOD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOTCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAM_G_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B6G4_HUMAN UniProtKB/TrEMBL
  A0A0C4DG35_HUMAN UniProtKB/TrEMBL
  A0A7D6VLH9 ENTREZGENE, UniProtKB/TrEMBL
  A0A7D6VM04 ENTREZGENE, UniProtKB/TrEMBL
  A0A7D6VMU1 ENTREZGENE, UniProtKB/TrEMBL
  A2A308 ENTREZGENE
  A8K118 ENTREZGENE, UniProtKB/TrEMBL
  B7Z5T2 ENTREZGENE
  B7Z824 ENTREZGENE, UniProtKB/TrEMBL
  B7Z826 ENTREZGENE, UniProtKB/TrEMBL
  B9EG71 ENTREZGENE
  CRUM1_HUMAN UniProtKB/Swiss-Prot
  F5H0L2 ENTREZGENE, UniProtKB/TrEMBL
  L8E9V4_HUMAN UniProtKB/TrEMBL
  P82279 ENTREZGENE
  Q5K3A6 ENTREZGENE
  Q5TC28 ENTREZGENE
  Q5VUT1 ENTREZGENE
  Q6N027 ENTREZGENE
  Q8WWY0 ENTREZGENE
  Q8WWY1 ENTREZGENE
UniProt Secondary A2A308 UniProtKB/Swiss-Prot
  B7Z5T2 UniProtKB/Swiss-Prot
  B9EG71 UniProtKB/Swiss-Prot
  Q5K3A6 UniProtKB/Swiss-Prot
  Q5TC28 UniProtKB/Swiss-Prot
  Q5VUT1 UniProtKB/Swiss-Prot
  Q6N027 UniProtKB/Swiss-Prot
  Q8WWY0 UniProtKB/Swiss-Prot
  Q8WWY1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-29 CRB1  crumbs cell polarity complex component 1  CRB1  crumbs 1, cell polarity complex component  Symbol and/or name change 5135510 APPROVED
2016-02-29 CRB1  crumbs 1, cell polarity complex component  CRB1  crumbs family member 1, photoreceptor morphogenesis associated  Symbol and/or name change 5135510 APPROVED
2014-02-11 CRB1  crumbs family member 1, photoreceptor morphogenesis associated  CRB1  crumbs homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED