RHO (rhodopsin) - Rat Genome Database

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Gene: RHO (rhodopsin) Homo sapiens
Analyze
Symbol: RHO
Name: rhodopsin
RGD ID: 731395
HGNC Page HGNC:10012
Description: Predicted to enable 11-cis retinal binding activity; G protein-coupled photoreceptor activity; and spectrin binding activity. Involved in G protein-coupled receptor signaling pathway. Located in Golgi apparatus; photoreceptor inner segment membrane; and photoreceptor outer segment. Implicated in congenital stationary night blindness autosomal dominant 1; fundus albipunctatus; night blindness; retinitis pigmentosa; and retinitis pigmentosa 4.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CSNBAD1; MGC138309; MGC138311; OPN2; opsin 2, rod pigment; opsin-2; retinitis pigmentosa 4, autosomal dominant; rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant); RP4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383129,528,639 - 129,535,344 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3129,528,639 - 129,535,344 (+)EnsemblGRCh38hg38GRCh38
GRCh373129,247,482 - 129,254,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,730,172 - 130,736,877 (+)NCBINCBI36Build 36hg18NCBI36
Build 343130,730,179 - 130,736,885NCBI
Celera3127,674,318 - 127,681,023 (+)NCBICelera
Cytogenetic Map3q22.1NCBI
HuRef3126,630,783 - 126,637,404 (+)NCBIHuRef
CHM1_13129,210,611 - 129,217,316 (+)NCBICHM1_1
T2T-CHM13v2.03132,273,081 - 132,279,773 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

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

Human Phenotype
Abnormal central response of multifocal electroretinogram  (IAGP)
Abnormal dark-adapted electroretinogram  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal full-field electroretinogram  (IAGP)
Abnormal light- and dark-adapted electroretinogram  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormality of fundus pigmentation  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Absent foveal reflex  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Blurred vision  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Cataract  (IAGP)
Central scotoma  (IAGP)
Childhood onset  (IAGP)
Color vision defect  (IAGP)
Compensatory head posture  (IAGP)
Conductive hearing impairment  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congenital sensorineural hearing impairment  (IAGP)
Congenital stationary night blindness  (IAGP)
Congenital stationary night blindness with abnormal fundus  (IAGP)
Congenital stationary night blindness with normal fundus  (IAGP)
Cystoid macular edema  (IAGP)
Decreased light- and dark-adapted electroretinogram amplitude  (IAGP)
Electronegative electroretinogram  (IAGP)
Exudative retinopathy  (IAGP)
Fundus albipunctatus  (IAGP)
Glaucoma  (IAGP)
Hyperinsulinemia  (IAGP)
Hypermetropia  (IAGP)
Keratoconus  (IAGP)
Lenticonus  (IAGP)
Macular atrophy  (IAGP)
Macular edema  (IAGP)
Monocular strabismus  (IAGP)
Myopia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Occult macular dystrophy  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc drusen  (IAGP)
Optic disc pallor  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Photoreceptor outer segment loss on macular OCT  (IAGP)
Pigmentary retinopathy  (IAGP)
Posterior subcapsular cataract  (IAGP)
Progressive night blindness  (IAGP)
Progressive visual field defects  (IAGP)
Progressive visual loss  (IAGP)
Reduced amplitude of dark-adapted bright flash electroretinogram a-wave  (IAGP)
Reduced visual acuity  (IAGP)
Retinal atrophy  (IAGP)
Retinal degeneration  (IAGP)
Retinal detachment  (IAGP)
Retinal dystrophy  (IAGP)
Retinal exudate  (IAGP)
Retinal flecks  (IAGP)
Retinal pigment epithelial atrophy  (IAGP)
Retinal pigment epithelial mottling  (IAGP)
Retinal thinning  (IAGP)
Retinal vascular malformation  (IAGP)
Rod-cone dystrophy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Strabismus  (IAGP)
Undetectable electroretinogram  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Yellow/white lesions of the retina  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa. Azam M, etal., Mol Vis. 2009 Dec 3;15:2526-34.
2. Aberrant retinal tight junction and adherens junction protein expression in an animal model of autosomal dominant Retinitis pigmentosa: the Rho(-/-) mouse. Campbell M, etal., Exp Eye Res. 2006 Sep;83(3):484-92. Epub 2006 Apr 27.
3. Caspase-7 ablation modulates UPR, reprograms TRAF2-JNK apoptosis and protects T17M rhodopsin mice from severe retinal degeneration. Choudhury S, etal., Cell Death Dis. 2013 Mar 7;4:e528. doi: 10.1038/cddis.2013.34.
4. Genes and mutations causing retinitis pigmentosa. Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
5. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Dryja TP, etal., N Engl J Med. 1990 Nov 8;323(19):1302-7.
6. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Dryja TP, etal., Nat Genet. 1993 Jul;4(3):280-3.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. Preservation of photoreceptor morphology and function in P23H rats using an allele independent ribozyme. Gorbatyuk M, etal., Exp Eye Res. 2007 Jan;84(1):44-52. Epub 2006 Nov 1.
9. Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice. Kennan A, etal., Hum Mol Genet. 2002 Mar 1;11(5):547-57.
10. Transport of truncated rhodopsin and its effects on rod function and degeneration. Lee ES and Flannery JG, Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2868-76.
11. AAV delivery of wild-type rhodopsin preserves retinal function in a mouse model of autosomal dominant retinitis pigmentosa. Mao H, etal., Hum Gene Ther. 2011 May;22(5):567-75. doi: 10.1089/hum.2010.140. Epub 2011 Mar 7.
12. Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa. Maubaret C, etal., Mol Vis. 2012;18:581-7. Epub 2012 Mar 2.
13. Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa. Milla E, etal., Ophthalmic Genet. 1998 Sep;19(3):131-9.
14. Zinc-finger-based transcriptional repression of rhodopsin in a model of dominant retinitis pigmentosa. Mussolino C, etal., EMBO Mol Med. 2011 Mar;3(3):118-28. doi: 10.1002/emmm.201000119. Epub 2011 Jan 26.
15. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
16. Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype. Pan Z, etal., Mol Vis. 2012;18:3013-20. Epub 2012 Dec 14.
17. Enhanced cone dysfunction in rats homozygous for the P23H rhodopsin mutation. Pinilla I, etal., Neurosci Lett. 2005 Jul 1-8;382(1-2):16-21. Epub 2005 Mar 17.
18. Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse. Pinto LH, etal., Vis Neurosci. 2005 Sep-Oct;22(5):619-29.
19. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
20. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
21. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
22. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
23. Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity. Rivera-De la Parra D, etal., Gene. 2013 Apr 25;519(1):173-6. doi: 10.1016/j.gene.2013.01.048. Epub 2013 Feb 9.
24. Mice with a D190N mutation in the gene encoding rhodopsin: a model for human autosomal-dominant retinitis pigmentosa. Sancho-Pelluz J, etal., Mol Med. 2012 May 9;18:549-55. doi: 10.2119/molmed.2011.00475.
25. Membrane receptors and transporters involved in the function and transport of vitamin A and its derivatives. Sun H Biochim Biophys Acta. 2012 Jan;1821(1):99-112. Epub 2011 Jun 17.
26. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
Additional References at PubMed
PMID:1301135   PMID:1302614   PMID:1356370   PMID:1391967   PMID:1418997   PMID:1484692   PMID:1539595   PMID:1580841   PMID:1589761   PMID:1765377   PMID:1833777   PMID:1840561  
PMID:1862076   PMID:1882937   PMID:1897520   PMID:1917988   PMID:1985460   PMID:1987955   PMID:2016091   PMID:2137202   PMID:2218504   PMID:2239971   PMID:2333895   PMID:2613244  
PMID:2629206   PMID:3350146   PMID:3769527   PMID:3942531   PMID:6589631   PMID:7523628   PMID:7633434   PMID:7673885   PMID:7846071   PMID:7981701   PMID:7987326   PMID:7987331  
PMID:7987385   PMID:8045708   PMID:8076945   PMID:8081400   PMID:8088850   PMID:8107847   PMID:8144599   PMID:8180207   PMID:8240107   PMID:8253795   PMID:8288567   PMID:8317502  
PMID:8353500   PMID:8366096   PMID:8401533   PMID:8406457   PMID:8430695   PMID:8554077   PMID:8566799   PMID:8617805   PMID:8841304   PMID:8943080   PMID:9099669   PMID:9169442  
PMID:9852134   PMID:9888392   PMID:10051572   PMID:10636894   PMID:10722682   PMID:10980774   PMID:11076863   PMID:11230166   PMID:11256614   PMID:11394879   PMID:11498053   PMID:11767049  
PMID:11910029   PMID:11910130   PMID:11972042   PMID:12091393   PMID:12297272   PMID:12359230   PMID:12477932   PMID:12590587   PMID:12601165   PMID:12646201   PMID:12754272   PMID:12871954  
PMID:14566652   PMID:15232620   PMID:15251955   PMID:15489334   PMID:15489336   PMID:15509574   PMID:15659613   PMID:15726226   PMID:15793783   PMID:15823756   PMID:16049034   PMID:16185528  
PMID:16229860   PMID:16381901   PMID:16565402   PMID:16767206   PMID:17289151   PMID:17325176   PMID:17453418   PMID:17488458   PMID:17653048   PMID:17693260   PMID:17936999   PMID:18175313  
PMID:18240029   PMID:18318631   PMID:18385078   PMID:18487375   PMID:18552984   PMID:18698306   PMID:18974094   PMID:19085385   PMID:19206210   PMID:19325938   PMID:19439413   PMID:19493002  
PMID:19506198   PMID:19795853   PMID:19801547   PMID:19836958   PMID:19934218   PMID:19955366   PMID:19958124   PMID:20097236   PMID:20164459   PMID:20238025   PMID:20301590   PMID:20374723  
PMID:20555336   PMID:20558345   PMID:20591486   PMID:20603337   PMID:20628051   PMID:20697005   PMID:20801516   PMID:20832389   PMID:21094163   PMID:21174529   PMID:21352497   PMID:21402790  
PMID:21659526   PMID:21677794   PMID:21873635   PMID:21921035   PMID:21940625   PMID:21978933   PMID:22126625   PMID:22145929   PMID:22183378   PMID:22183380   PMID:22217031   PMID:22219383  
PMID:22251557   PMID:22736939   PMID:22791210   PMID:22855534   PMID:22956602   PMID:23049240   PMID:23557623   PMID:23579341   PMID:23625926   PMID:23704327   PMID:23940033   PMID:24106275  
PMID:24183693   PMID:24520188   PMID:24618321   PMID:24664733   PMID:24664756   PMID:24717605   PMID:24918165   PMID:25055872   PMID:25096327   PMID:25171072   PMID:25203160   PMID:25221422  
PMID:25265376   PMID:25268658   PMID:25274813   PMID:25305340   PMID:25366773   PMID:25408095   PMID:25637522   PMID:25664179   PMID:25673879   PMID:26045836   PMID:26105054   PMID:26114863  
PMID:26200343   PMID:26321861   PMID:26416182   PMID:26427449   PMID:26467309   PMID:26794436   PMID:26865329   PMID:26887858   PMID:26962691   PMID:27117643   PMID:27458239   PMID:27812022  
PMID:28065882   PMID:28369862   PMID:28569420   PMID:28701359   PMID:28715844   PMID:28753425   PMID:29899450   PMID:30537820   PMID:30659944   PMID:30972525   PMID:31239368   PMID:31319082  
PMID:31380578   PMID:31438752   PMID:31730232   PMID:32180681   PMID:32181350   PMID:32238431   PMID:32296183   PMID:32724127   PMID:33347869   PMID:33420188   PMID:33669941   PMID:33688152  
PMID:34439829   PMID:34774799   PMID:34798368   PMID:34830362   PMID:35428710   PMID:37470211   PMID:37952496   PMID:38070066   PMID:38284172   PMID:38743626   PMID:39370953  


Genomics

Comparative Map Data
RHO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383129,528,639 - 129,535,344 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3129,528,639 - 129,535,344 (+)EnsemblGRCh38hg38GRCh38
GRCh373129,247,482 - 129,254,187 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363130,730,172 - 130,736,877 (+)NCBINCBI36Build 36hg18NCBI36
Build 343130,730,179 - 130,736,885NCBI
Celera3127,674,318 - 127,681,023 (+)NCBICelera
Cytogenetic Map3q22.1NCBI
HuRef3126,630,783 - 126,637,404 (+)NCBIHuRef
CHM1_13129,210,611 - 129,217,316 (+)NCBICHM1_1
T2T-CHM13v2.03132,273,081 - 132,279,773 (+)NCBIT2T-CHM13v2.0
Rho
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396115,903,741 - 115,916,999 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6115,908,709 - 115,916,997 (+)EnsemblGRCm39 Ensembl
GRCm386115,926,754 - 115,940,038 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6115,931,748 - 115,940,036 (+)EnsemblGRCm38mm10GRCm38
MGSCv376115,881,945 - 115,888,848 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366115,897,546 - 115,904,449 (+)NCBIMGSCv36mm8
Celera6117,767,245 - 117,774,151 (+)NCBICelera
Cytogenetic Map6E3NCBI
cM Map653.72NCBI
Rho
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84150,653,205 - 150,658,367 (+)NCBIGRCr8
mRatBN7.24148,975,597 - 148,988,693 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4148,980,611 - 148,985,773 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4155,209,107 - 155,214,199 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04150,993,130 - 150,998,222 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04149,616,029 - 149,621,121 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04147,832,136 - 147,837,298 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4147,832,136 - 147,837,298 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04211,115,847 - 211,121,009 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44152,057,788 - 152,062,950 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14152,302,628 - 152,307,791 (+)NCBI
Celera4137,870,273 - 137,875,435 (+)NCBICelera
Cytogenetic Map4q42NCBI
Rho
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542917,787,337 - 17,791,982 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542917,787,337 - 17,791,982 (-)NCBIChiLan1.0ChiLan1.0
RHO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22127,461,364 - 127,471,171 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13127,466,088 - 127,473,896 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03126,586,510 - 126,593,028 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13133,938,419 - 133,944,928 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3133,938,419 - 133,944,928 (+)Ensemblpanpan1.1panPan2
RHO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1205,630,735 - 5,638,906 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha205,669,643 - 5,674,903 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0205,661,948 - 5,667,219 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl205,661,632 - 5,667,315 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1205,377,793 - 5,383,047 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0205,730,818 - 5,736,090 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0205,706,443 - 5,711,705 (-)NCBIUU_Cfam_GSD_1.0
Rho
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494218,008,183 - 18,014,175 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936602894,617 - 901,664 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936602896,730 - 901,480 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RHO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1368,908,578 - 68,913,651 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11368,908,578 - 68,913,651 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21376,135,867 - 76,140,946 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RHO
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12251,513,611 - 51,520,589 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2251,515,081 - 51,519,974 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041114,957,244 - 114,963,876 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rho
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624872523,912 - 527,615 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624872523,892 - 528,278 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RHO
538 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000539.3(RHO):c.482G>A (p.Trp161Ter) single nucleotide variant Retinitis pigmentosa 4, autosomal recessive [RCV000022756]|not provided [RCV001381858] Chr3:129530996 [GRCh38]
Chr3:129249839 [GRCh37]
Chr3:3q22.1
pathogenic
I255del deletion Retinitis pigmentosa 4 [RCV000013891] Chr3:3q21-q24 pathogenic
RHO, 12-BP DEL, EX1 deletion Retinitis pigmentosa 4 [RCV000013906] Chr3:3q21-q24 pathogenic
RHO, IVS4AS, G-T, +1 single nucleotide variant Retinitis pigmentosa 4 [RCV000013914] Chr3:3q21-q24 pathogenic
NM_000539.3(RHO):c.759G>T (p.Met253Ile) single nucleotide variant Pigmentary retinal dystrophy [RCV001196773]|Retinal dystrophy [RCV004817958]|Retinitis pigmentosa 4 [RCV001265204]|Retinitis pigmentosa [RCV000778676]|not provided [RCV000729715] Chr3:129532595 [GRCh38]
Chr3:129251438 [GRCh37]
Chr3:3q22.1
likely pathogenic|likely benign|uncertain significance
NM_000539.3(RHO):c.549dup (p.Gln184fs) duplication Neuropathy, congenital hypomyelinating, 2 [RCV000722093] Chr3:129532268..129532269 [GRCh38]
Chr3:129251111..129251112 [GRCh37]
Chr1:1q23.3
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) single nucleotide variant Retinal dystrophy [RCV004815199]|Retinitis pigmentosa 4 [RCV001265175]|Retinitis pigmentosa [RCV000132596]|not provided [RCV001007975] Chr3:129528913 [GRCh38]
Chr3:129247756 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.520G>A (p.Gly174Ser) single nucleotide variant Retinal dystrophy [RCV003888543]|Retinitis pigmentosa [RCV000132599]|not provided [RCV003556175] Chr3:129531034 [GRCh38]
Chr3:129249877 [GRCh37]
Chr3:3q22.1
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000539.3(RHO):c.562G>A (p.Gly188Arg) single nucleotide variant Retinal dystrophy [RCV003888544]|Retinitis pigmentosa [RCV000132600]|not provided [RCV001384606] Chr3:129532282 [GRCh38]
Chr3:129251125 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.891C>T (p.Ser297=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000294558]|Retinal dystrophy [RCV003888545]|Retinitis pigmentosa [RCV000351834]|not provided [RCV000132601] Chr3:129532727 [GRCh38]
Chr3:129251570 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.979_982del (p.Pro327fs) deletion Retinitis pigmentosa [RCV000132602] Chr3:129533648..129533651 [GRCh38]
Chr3:129252491..129252494 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.68C>A (p.Pro23His) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000763095]|RHO-related disorder [RCV004755731]|Retinal dystrophy [RCV001075876]|Retinitis pigmentosa 4 [RCV000013887]|not provided [RCV000490234] Chr3:129528801 [GRCh38]
Chr3:129247644 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) single nucleotide variant Blurred vision [RCV000626702]|Microcephaly 17, primary, autosomal recessive [RCV003989284]|RHO-related disorder [RCV004755732]|Retinal dystrophy [RCV001075874]|Retinitis pigmentosa 4 [RCV000013888]|Retinitis pigmentosa [RCV000504743]|not provided [RCV000490027] Chr3:129533711 [GRCh38]
Chr3:129252554 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.1039C>T (p.Pro347Ser) single nucleotide variant Retinal dystrophy [RCV003887861]|Retinitis pigmentosa 4 [RCV000013889] Chr3:129533710 [GRCh38]
Chr3:129252553 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) single nucleotide variant RHO-related disorder [RCV004755733]|Retinal dystrophy [RCV001074373]|Retinitis pigmentosa 4 [RCV000013890]|not provided [RCV001384460] Chr3:129528906 [GRCh38]
Chr3:129247749 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.50C>T (p.Thr17Met) single nucleotide variant Retinal dystrophy [RCV001075619]|Retinitis pigmentosa 4 [RCV000013892]|Retinitis pigmentosa [RCV000787682]|not provided [RCV001090660]|not specified [RCV001002098] Chr3:129528783 [GRCh38]
Chr3:129247626 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.133T>C (p.Phe45Leu) single nucleotide variant Retinitis pigmentosa 4 [RCV000013893]|not provided [RCV001851838] Chr3:129528866 [GRCh38]
Chr3:129247709 [GRCh37]
Chr3:3q22.1
pathogenic|uncertain significance
NM_000539.3(RHO):c.260T>A (p.Val87Asp) single nucleotide variant Pigmentary retinal dystrophy [RCV001198366]|Retinitis pigmentosa 4 [RCV000013894] Chr3:129528993 [GRCh38]
Chr3:129247836 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|uncertain significance
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) single nucleotide variant Pigmentary retinal dystrophy [RCV001813740]|Retinal dystrophy [RCV004814892]|Retinitis pigmentosa 4 [RCV000013895]|Retinitis pigmentosa [RCV001003167]|not provided [RCV001213959] Chr3:129528999 [GRCh38]
Chr3:129247842 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.316G>T (p.Gly106Trp) single nucleotide variant Retinal dystrophy [RCV001073422]|Retinitis pigmentosa 4 [RCV000013896]|not provided [RCV001857345] Chr3:129529049 [GRCh38]
Chr3:129247892 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.568G>A (p.Asp190Asn) single nucleotide variant Retinal dystrophy [RCV003887862]|Retinitis pigmentosa 4 [RCV000013897]|not provided [RCV001056948] Chr3:129532288 [GRCh38]
Chr3:129251131 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.404G>T (p.Arg135Leu) single nucleotide variant Retinitis pigmentosa 4 [RCV000013898]|not provided [RCV000256085] Chr3:129530918 [GRCh38]
Chr3:129249761 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) single nucleotide variant Retinal dystrophy [RCV004814893]|Retinitis pigmentosa 4 [RCV000013899]|Retinitis pigmentosa [RCV000787683]|not provided [RCV001229671] Chr3:129532253 [GRCh38]
Chr3:129251096 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.569A>G (p.Asp190Gly) single nucleotide variant Retinal dystrophy [RCV003887863]|Retinitis pigmentosa 4 [RCV000013900]|not provided [RCV001386998] Chr3:129532289 [GRCh38]
Chr3:129251132 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.632A>C (p.His211Pro) single nucleotide variant Retinal dystrophy [RCV001074697]|Retinitis pigmentosa 4 [RCV000013901] Chr3:129532352 [GRCh38]
Chr3:129251195 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) single nucleotide variant RHO-related disorder [RCV004755734]|Retinal dystrophy [RCV001074272]|Retinitis pigmentosa 4 [RCV000013902]|Retinitis pigmentosa [RCV000132597]|Retinitis punctata albescens [RCV000013903]|not provided [RCV000413771] Chr3:129530917 [GRCh38]
Chr3:129249760 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.1030C>T (p.Gln344Ter) single nucleotide variant Retinal dystrophy [RCV003887864]|Retinitis pigmentosa 4 [RCV000013904]|not provided [RCV000760321] Chr3:129533701 [GRCh38]
Chr3:129252544 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.886A>G (p.Lys296Glu) single nucleotide variant Retinitis pigmentosa 4 [RCV000013905]|not provided [RCV002513028] Chr3:129532722 [GRCh38]
Chr3:129251565 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) single nucleotide variant Retinitis pigmentosa 4 [RCV000013907]|Retinitis pigmentosa [RCV001003173]|not provided [RCV001382064] Chr3:129533711 [GRCh38]
Chr3:129252554 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.544G>A (p.Gly182Ser) single nucleotide variant Retinal dystrophy [RCV001074816]|Retinitis pigmentosa 4 [RCV000013908]|not provided [RCV001857346] Chr3:129532264 [GRCh38]
Chr3:129251107 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.800C>T (p.Pro267Leu) single nucleotide variant Retinitis pigmentosa 4 [RCV000013909]|Retinitis pigmentosa [RCV001003172]|not provided [RCV001582479] Chr3:129532636 [GRCh38]
Chr3:129251479 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.329G>A (p.Cys110Tyr) single nucleotide variant Retinal dystrophy [RCV001073635]|Retinitis pigmentosa 4 [RCV000013910]|not provided [RCV001234924] Chr3:129529062 [GRCh38]
Chr3:129247905 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.745G>T (p.Glu249Ter) single nucleotide variant Retinal dystrophy [RCV001074645]|Retinitis pigmentosa 4, autosomal recessive [RCV000013911]|not provided [RCV001007976] Chr3:129532581 [GRCh38]
Chr3:129251424 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) single nucleotide variant Retinitis pigmentosa 4 [RCV000013912]|Retinitis pigmentosa [RCV000504903]|not provided [RCV002513029] Chr3:129528891 [GRCh38]
Chr3:129247734 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) single nucleotide variant Retinal dystrophy [RCV001074389]|Retinitis pigmentosa 4 [RCV000013913]|Retinitis pigmentosa [RCV000787679]|not provided [RCV001207877] Chr3:129529049 [GRCh38]
Chr3:129247892 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) single nucleotide variant Retinitis pigmentosa 4 [RCV000013915]|Retinitis pigmentosa [RCV000504953]|not provided [RCV001386997] Chr3:129532288 [GRCh38]
Chr3:129251131 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.44A>G (p.Asn15Ser) single nucleotide variant Retinal dystrophy [RCV004814894]|Retinitis pigmentosa 4 [RCV000013917]|Retinitis pigmentosa [RCV000132598]|not provided [RCV001203907] Chr3:129528777 [GRCh38]
Chr3:129247620 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.620T>G (p.Met207Arg) single nucleotide variant Retinal dystrophy [RCV001075474]|Retinitis pigmentosa 4 [RCV000013918]|not provided [RCV004546412] Chr3:129532340 [GRCh38]
Chr3:129251183 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.875C>A (p.Ala292Glu) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000013919] Chr3:129532711 [GRCh38]
Chr3:129251554 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.269G>A (p.Gly90Asp) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000013920]|Pigmentary retinal dystrophy [RCV001195814]|Retinal dystrophy [RCV004814895]|not provided [RCV001268622] Chr3:129529002 [GRCh38]
Chr3:129247845 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.448G>A (p.Glu150Lys) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV003105773]|Retinal dystrophy [RCV004794339]|Retinitis pigmentosa 4 [RCV001265186]|Retinitis pigmentosa 4, autosomal recessive [RCV000013921]|not provided [RCV001045970] Chr3:129530962 [GRCh38]
Chr3:129249805 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.151G>C (p.Gly51Arg) single nucleotide variant RHO-related disorder [RCV003390680]|Retinitis pigmentosa 4 [RCV000013922]|not provided [RCV001237838] Chr3:129528884 [GRCh38]
Chr3:129247727 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.341G>A (p.Gly114Asp) single nucleotide variant Retinitis pigmentosa 4 [RCV000013923]|not provided [RCV001851839] Chr3:129529074 [GRCh38]
Chr3:129247917 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.491C>A (p.Ala164Glu) single nucleotide variant Retinal dystrophy [RCV004814896]|Retinitis pigmentosa 4 [RCV000013924]|not provided [RCV001381859] Chr3:129531005 [GRCh38]
Chr3:129249848 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.511C>T (p.Pro171Ser) single nucleotide variant Retinal dystrophy [RCV001075386]|Retinitis pigmentosa 4 [RCV000013925]|Retinitis pigmentosa [RCV001003169]|not provided [RCV001381861] Chr3:129531025 [GRCh38]
Chr3:129249868 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) microsatellite Retinitis pigmentosa 4 [RCV000013926]|not provided [RCV001386999] Chr3:129532625..129532627 [GRCh38]
Chr3:129251468..129251470 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.1033G>C (p.Val345Leu) single nucleotide variant Retinitis pigmentosa 4 [RCV000013927]|not provided [RCV001213632] Chr3:129533704 [GRCh38]
Chr3:129252547 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.1040C>A (p.Pro347Gln) single nucleotide variant Retinitis pigmentosa 4 [RCV000013928]|not provided [RCV001851840] Chr3:129533711 [GRCh38]
Chr3:129252554 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.281C>T (p.Thr94Ile) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000013929] Chr3:129529014 [GRCh38]
Chr3:129247857 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.67C>G (p.Pro23Ala) single nucleotide variant Retinitis pigmentosa 4 [RCV000013930] Chr3:129528800 [GRCh38]
Chr3:129247643 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.1033G>A (p.Val345Met) single nucleotide variant Retinal dystrophy [RCV004814897]|Retinitis pigmentosa 4 [RCV000013931]|not provided [RCV001045798] Chr3:129533704 [GRCh38]
Chr3:129252547 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.217_219del (p.Asn73del) deletion Retinal dystrophy [RCV004814997]|Retinitis pigmentosa [RCV000076919] Chr3:129528949..129528951 [GRCh38]
Chr3:129247792..129247794 [GRCh37]
Chr3:3q22.1
likely pathogenic|not provided
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) single nucleotide variant RHO-related disorder [RCV004755791]|Retinal dystrophy [RCV001074893]|Retinitis pigmentosa 4 [RCV000177081]|Retinitis pigmentosa [RCV000504731]|not provided [RCV000724301] Chr3:129532261 [GRCh38]
Chr3:129251104 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.360C>T (p.Gly120=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000396592]|Retinitis pigmentosa [RCV000293004]|not provided [RCV000880753]|not specified [RCV000173155] Chr3:129529093 [GRCh38]
Chr3:129247936 [GRCh37]
Chr3:3q22.1
benign|likely benign|uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29
pathogenic
GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3 copy number gain See cases [RCV000142010] Chr3:126106779..140918089 [GRCh38]
Chr3:125825622..140636931 [GRCh37]
Chr3:127308312..142119621 [NCBI36]
Chr3:3q21.3-23
uncertain significance
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24
pathogenic
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 copy number loss See cases [RCV000142787] Chr3:127607945..133566661 [GRCh38]
Chr3:127326788..133285505 [GRCh37]
Chr3:128809478..134768195 [NCBI36]
Chr3:3q21.3-22.1
likely pathogenic
NM_000539.3(RHO):c.586C>A (p.Pro196Thr) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000366657]|Retinal dystrophy [RCV001074281]|Retinitis pigmentosa [RCV000264905]|not provided [RCV001238676] Chr3:129532306 [GRCh38]
Chr3:129251149 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*1099G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000317491]|Retinitis pigmentosa [RCV000262363] Chr3:129534817 [GRCh38]
Chr3:129253660 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.*741T>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000324695]|Retinitis pigmentosa [RCV000278907] Chr3:129534459 [GRCh38]
Chr3:129253302 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.152G>C (p.Gly51Ala) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000336890]|Retinitis pigmentosa [RCV000279557]|not provided [RCV000968011] Chr3:129528885 [GRCh38]
Chr3:129247728 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.*232A>G single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000280423]|Retinitis pigmentosa [RCV000374905]|not provided [RCV004716023] Chr3:129533950 [GRCh38]
Chr3:129252793 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.*43C>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000266930]|Pigmentary retinal dystrophy [RCV001795400]|Retinitis pigmentosa 4 [RCV001795399]|Retinitis pigmentosa [RCV000361569]|not provided [RCV001530651]|not specified [RCV000253548] Chr3:129533761 [GRCh38]
Chr3:129252604 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.*1255T>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000329122]|Retinitis pigmentosa [RCV000283487] Chr3:129534973 [GRCh38]
Chr3:129253816 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.696+4C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000262697]|Pigmentary retinal dystrophy [RCV001795404]|Retinitis pigmentosa 4 [RCV001795403]|Retinitis pigmentosa [RCV000373596]|not provided [RCV001512409]|not specified [RCV000249709] Chr3:129532420 [GRCh38]
Chr3:129251263 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.-26A>G single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000377312]|Pigmentary retinal dystrophy [RCV001795402]|Retinitis pigmentosa 4 [RCV001795401]|Retinitis pigmentosa [RCV000285210]|not provided [RCV001675692]|not specified [RCV000244948] Chr3:129528708 [GRCh38]
Chr3:129247551 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.624C>T (p.Phe208=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000268586]|Retinitis pigmentosa [RCV000316747]|not provided [RCV001506266] Chr3:129532344 [GRCh38]
Chr3:129251187 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.*33C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000301186]|Retinitis pigmentosa [RCV000337472]|not specified [RCV000250410] Chr3:129533751 [GRCh38]
Chr3:129252594 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.-51G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000320268]|Retinitis pigmentosa [RCV000272221]|not provided [RCV001618609] Chr3:129528683 [GRCh38]
Chr3:129247526 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.*140del deletion Congenital Stationary Night Blindness, Dominant [RCV000272590]|Retinitis Pigmentosa, Dominant/Recessive [RCV000327638] Chr3:129533843 [GRCh38]
Chr3:129252686 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.*139_*140del deletion Congenital Stationary Night Blindness, Dominant [RCV000382175]|Retinitis Pigmentosa, Dominant/Recessive [RCV000268978]|not provided [RCV004694706] Chr3:129533843..129533844 [GRCh38]
Chr3:129252686..129252687 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*1599G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000351990]|Retinitis pigmentosa [RCV000402693] Chr3:129535317 [GRCh38]
Chr3:129254160 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.381C>G (p.Ser127=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000315073]|Retinitis pigmentosa [RCV000362714]|not provided [RCV000910360]|not specified [RCV000592809] Chr3:129530895 [GRCh38]
Chr3:129249738 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.*205C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000333623]|Retinitis pigmentosa [RCV000388156] Chr3:129533923 [GRCh38]
Chr3:129252766 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.*925T>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000396566]|Retinitis pigmentosa [RCV000315458]|not provided [RCV004716025] Chr3:129534643 [GRCh38]
Chr3:129253486 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.*276C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000395383]|Retinitis pigmentosa [RCV000335505] Chr3:129533994 [GRCh38]
Chr3:129252837 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*715C>T single nucleotide variant Congenital Stationary Night Blindness, Dominant [RCV000318933]|Retinitis Pigmentosa, Dominant/Recessive [RCV000373527] Chr3:129534433 [GRCh38]
Chr3:129253276 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.*912A>G single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000289806]|Retinitis pigmentosa [RCV000344809]|not provided [RCV004716024] Chr3:129534630 [GRCh38]
Chr3:129253473 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.*1455T>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000287841]|Retinitis pigmentosa [RCV000382227] Chr3:129535173 [GRCh38]
Chr3:129254016 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*313C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000341642]|Retinitis pigmentosa [RCV000305505] Chr3:129534031 [GRCh38]
Chr3:129252874 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.*1200T>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000377826]|Retinitis pigmentosa [RCV000323160] Chr3:129534918 [GRCh38]
Chr3:129253761 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.*488T>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000371021]|Retinitis pigmentosa [RCV000307072] Chr3:129534206 [GRCh38]
Chr3:129253049 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.48G>A (p.Ala16=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000323919]|Retinitis pigmentosa [RCV000371594]|not provided [RCV003765982] Chr3:129528781 [GRCh38]
Chr3:129247624 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.*1601C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000293792]|Retinitis pigmentosa [RCV000348700] Chr3:129535319 [GRCh38]
Chr3:129254162 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.*467A>G single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000398278]|Retinitis pigmentosa [RCV000365192] Chr3:129534185 [GRCh38]
Chr3:129253028 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.480C>A (p.Thr160=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000389975]|Retinitis pigmentosa [RCV000309251]|not provided [RCV000732353]|not specified [RCV001700071] Chr3:129530994 [GRCh38]
Chr3:129249837 [GRCh37]
Chr3:3q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000539.3(RHO):c.959C>A (p.Thr320Asn) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000295474]|RHO-related disorder [RCV003401364]|Retinal dystrophy [RCV004816589]|Retinitis pigmentosa [RCV000380819]|not provided [RCV001322065] Chr3:129533630 [GRCh38]
Chr3:129252473 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.696+12G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000329636]|Retinitis pigmentosa [RCV000386443]|not provided [RCV001456280] Chr3:129532428 [GRCh38]
Chr3:129251271 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.*948T>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000402149]|Retinitis pigmentosa [RCV000370116] Chr3:129534666 [GRCh38]
Chr3:129253509 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.361+12del deletion Congenital Stationary Night Blindness, Dominant [RCV000396600]|Retinitis Pigmentosa, Dominant/Recessive [RCV000350160]|not provided [RCV000968012] Chr3:129529104 [GRCh38]
Chr3:129247947 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.969C>T (p.Cys323=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000350364]|Retinitis pigmentosa [RCV000397212]|not provided [RCV000894853] Chr3:129533640 [GRCh38]
Chr3:129252483 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.850G>A (p.Gly284Ser) single nucleotide variant not provided [RCV000373903] Chr3:129532686 [GRCh38]
Chr3:129251529 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.404_405delinsTT (p.Arg135Leu) indel Retinal dystrophy [RCV001073685]|not provided [RCV000299725] Chr3:129530918..129530919 [GRCh38]
Chr3:129249761..129249762 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.*645G>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000263479]|Retinitis pigmentosa [RCV000367414] Chr3:129534363 [GRCh38]
Chr3:129253206 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.558G>A (p.Ser186=) single nucleotide variant not provided [RCV001520981]|not specified [RCV000321144] Chr3:129532278 [GRCh38]
Chr3:129251121 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.*633G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000276276]|Retinitis pigmentosa [RCV000331385] Chr3:129534351 [GRCh38]
Chr3:129253194 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.362-10T>C single nucleotide variant not provided [RCV000395338] Chr3:129530866 [GRCh38]
Chr3:129249709 [GRCh37]
Chr3:3q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000539.3(RHO):c.*1144C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000268312]|Retinitis pigmentosa [RCV000353740] Chr3:129534862 [GRCh38]
Chr3:129253705 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.392T>C (p.Leu131Pro) single nucleotide variant Retinal dystrophy [RCV004817780]|Retinitis pigmentosa 4 [RCV001265185]|not provided [RCV000585361] Chr3:129530906 [GRCh38]
Chr3:129249749 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.530+5T>C single nucleotide variant Retinal dystrophy [RCV004816706]|not provided [RCV000488344] Chr3:129531049 [GRCh38]
Chr3:129249892 [GRCh37]
Chr3:3q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000539.3(RHO):c.*115G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000358201]|Retinitis pigmentosa [RCV000303379] Chr3:129533833 [GRCh38]
Chr3:129252676 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.614T>G (p.Ile205Ser) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000303620]|Retinitis pigmentosa [RCV000360682] Chr3:129532334 [GRCh38]
Chr3:129251177 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*224C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000293878]|Retinitis pigmentosa [RCV000348747] Chr3:129533942 [GRCh38]
Chr3:129252785 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*838A>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000379426]|Retinitis pigmentosa [RCV000284950] Chr3:129534556 [GRCh38]
Chr3:129253399 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*40C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000297644]|Retinitis pigmentosa [RCV000397223] Chr3:129533758 [GRCh38]
Chr3:129252601 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*887G>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000340083]|Retinitis pigmentosa [RCV000403848] Chr3:129534605 [GRCh38]
Chr3:129253448 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*970C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000357280]|Retinitis pigmentosa [RCV000311775] Chr3:129534688 [GRCh38]
Chr3:129253531 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*440C>G single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV000395389]|Retinitis pigmentosa [RCV000301879] Chr3:129534158 [GRCh38]
Chr3:129253001 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) microsatellite Retinal dystrophy [RCV001074532]|Retinitis pigmentosa 4 [RCV001811090]|not provided [RCV000592804] Chr3:129532597..129532599 [GRCh38]
Chr3:129251440..129251442 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000539.3(RHO):c.359del (p.Gly120fs) deletion not provided [RCV000414503] Chr3:129529090 [GRCh38]
Chr3:129247933 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.263T>C (p.Leu88Pro) single nucleotide variant Retinal dystrophy [RCV003889887]|not provided [RCV000442591] Chr3:129528996 [GRCh38]
Chr3:129247839 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.83A>G (p.Gln28Arg) single nucleotide variant Retinal dystrophy [RCV004817727]|Retinitis pigmentosa [RCV000505117]|not provided [RCV001296378] Chr3:129528816 [GRCh38]
Chr3:129247659 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|uncertain significance
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) single nucleotide variant Retinitis pigmentosa 4 [RCV000987330]|Retinitis pigmentosa [RCV000505129]|not provided [RCV001381860] Chr3:129531023 [GRCh38]
Chr3:129249866 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.405G>T (p.Arg135=) single nucleotide variant not specified [RCV000439200] Chr3:129530919 [GRCh38]
Chr3:129249762 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.946del (p.Cys316fs) deletion Autosomal dominant retinitis pigmentosa [RCV000509396]|not provided [RCV000481453] Chr3:129533617 [GRCh38]
Chr3:129252460 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|not provided
NM_000539.3(RHO):c.491C>T (p.Ala164Val) single nucleotide variant Cone-rod dystrophy [RCV000787681]|Congenital stationary night blindness autosomal dominant 1 [RCV000477900]|Retinal dystrophy [RCV003889904]|Retinitis pigmentosa 4 [RCV001265187]|Retinitis pigmentosa [RCV000787680]|not provided [RCV001229601] Chr3:129531005 [GRCh38]
Chr3:129249848 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.891C>G (p.Ser297Arg) single nucleotide variant Exudative retinopathy [RCV000626703]|Pigmentary retinal dystrophy [RCV001270159]|not provided [RCV002529794] Chr3:129532727 [GRCh38]
Chr3:129251570 [GRCh37]
Chr3:3q22.1
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000539.3(RHO):c.505G>C (p.Ala169Pro) single nucleotide variant not provided [RCV003312586] Chr3:129531019 [GRCh38]
Chr3:129249862 [GRCh37]
Chr3:3q22.1
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
NM_000539.3(RHO):c.444C>T (p.Phe148=) single nucleotide variant not provided [RCV000658974] Chr3:129530958 [GRCh38]
Chr3:129249801 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.929A>G (p.Asn310Ser) single nucleotide variant not provided [RCV000658975] Chr3:129532765 [GRCh38]
Chr3:129251608 [GRCh37]
Chr3:3q22.1
uncertain significance
GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1 copy number loss not provided [RCV000682304] Chr3:128660985..129811200 [GRCh37]
Chr3:3q21.3-22.1
uncertain significance
NM_000539.3(RHO):c.1037C>A (p.Ala346Asp) single nucleotide variant Retinal dystrophy [RCV004814071] Chr3:129533708 [GRCh38]
Chr3:129252551 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.497C>T (p.Ala166Val) single nucleotide variant Retinitis pigmentosa [RCV001003168] Chr3:129531011 [GRCh38]
Chr3:129249854 [GRCh37]
Chr3:3q22.1
likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3q22.1(chr3:129239972-129350751)x3 copy number gain not provided [RCV000742789] Chr3:129239972..129350751 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.643C>G (p.Pro215Ala) single nucleotide variant Retinitis pigmentosa 4 [RCV001591836]|not provided [RCV002571159] Chr3:129532363 [GRCh38]
Chr3:129251206 [GRCh37]
Chr3:3q22.1
likely pathogenic
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541925] Chr3:127966423..136853218 [GRCh37]
Chr3:3q21.3-22.3
pathogenic
Single allele deletion Deafness-lymphedema-leukemia syndrome [RCV001541926] Chr3:123000000..129700000 [GRCh37]
Chr3:3q21.1-22.1
pathogenic
NM_000539.3(RHO):c.600C>T (p.Asn200=) single nucleotide variant not provided [RCV000939758] Chr3:129532320 [GRCh38]
Chr3:129251163 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) single nucleotide variant Cone dystrophy 3 [RCV001265203]|Retinal dystrophy [RCV004817979]|not provided [RCV000762387] Chr3:129532591 [GRCh38]
Chr3:129251434 [GRCh37]
Chr3:3q22.1
likely pathogenic|uncertain significance
NM_000539.3(RHO):c.557C>G (p.Ser186Trp) single nucleotide variant Retinitis pigmentosa 4 [RCV000987331] Chr3:129532277 [GRCh38]
Chr3:129251120 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.502G>A (p.Ala168Thr) single nucleotide variant not provided [RCV001060164] Chr3:129531016 [GRCh38]
Chr3:129249859 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.328T>G (p.Cys110Gly) single nucleotide variant Retinitis pigmentosa 4 [RCV000786865] Chr3:129529061 [GRCh38]
Chr3:129247904 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.625G>A (p.Val209Met) single nucleotide variant Retinal dystrophy [RCV004813654]|not provided [RCV001058715] Chr3:129532345 [GRCh38]
Chr3:129251188 [GRCh37]
Chr3:3q22.1
likely pathogenic|uncertain significance
NM_000539.3(RHO):c.847T>C (p.Phe283Leu) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001148537]|Retinitis pigmentosa [RCV001148538] Chr3:129532683 [GRCh38]
Chr3:129251526 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.203T>G (p.Leu68Arg) single nucleotide variant Retinitis pigmentosa [RCV000787677]|not provided [RCV001041417] Chr3:129528936 [GRCh38]
Chr3:129247779 [GRCh37]
Chr3:3q22.1
likely pathogenic|uncertain significance
NM_000539.3(RHO):c.265G>C (p.Gly89Arg) single nucleotide variant Retinitis pigmentosa [RCV000787678] Chr3:129528998 [GRCh38]
Chr3:129247841 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.*1454G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001146090]|Retinitis pigmentosa [RCV001146091] Chr3:129535172 [GRCh38]
Chr3:129254015 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.1020G>A (p.Thr340=) single nucleotide variant not provided [RCV000756598] Chr3:129533691 [GRCh38]
Chr3:129252534 [GRCh37]
Chr3:3q22.1
likely benign|conflicting interpretations of pathogenicity
NM_000539.3(RHO):c.16G>A (p.Gly6Ser) single nucleotide variant Retinal dystrophy [RCV001075304] Chr3:129528749 [GRCh38]
Chr3:129247592 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.647T>G (p.Met216Arg) single nucleotide variant Retinal dystrophy [RCV001075318]|not provided [RCV001862606] Chr3:129532367 [GRCh38]
Chr3:129251210 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.1034T>A (p.Val345Glu) single nucleotide variant Retinal dystrophy [RCV001075407]|not provided [RCV001862610] Chr3:129533705 [GRCh38]
Chr3:129252548 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.72C>G (p.Phe24Leu) single nucleotide variant not provided [RCV001050353] Chr3:129528805 [GRCh38]
Chr3:129247648 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) single nucleotide variant Retinal dystrophy [RCV001075811]|Retinitis pigmentosa 4 [RCV001265169]|not provided [RCV001090668] Chr3:129533699 [GRCh38]
Chr3:129252542 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000539.3(RHO):c.532T>C (p.Tyr178His) single nucleotide variant Retinal dystrophy [RCV001075883]|Retinitis pigmentosa 4 [RCV001265191]|not provided [RCV001321723] Chr3:129532252 [GRCh38]
Chr3:129251095 [GRCh37]
Chr3:3q22.1
likely pathogenic|uncertain significance
NM_000539.3(RHO):c.310G>A (p.Val104Ile) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV002482112]|RHO-related disorder [RCV004756165]|Retinal dystrophy [RCV003890221]|not provided [RCV001067390] Chr3:129529043 [GRCh38]
Chr3:129247886 [GRCh37]
Chr3:3q22.1
benign|likely benign|uncertain significance
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) single nucleotide variant Retinal dystrophy [RCV001073649]|Retinitis pigmentosa 4 [RCV001265189]|not provided [RCV001069818] Chr3:129531026 [GRCh38]
Chr3:129249869 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.538C>G (p.Pro180Ala) single nucleotide variant Retinal dystrophy [RCV001073442]|not provided [RCV001207469] Chr3:129532258 [GRCh38]
Chr3:129251101 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.72C>A (p.Phe24Leu) single nucleotide variant Retinal dystrophy [RCV001073462] Chr3:129528805 [GRCh38]
Chr3:129247648 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.541G>C (p.Glu181Gln) single nucleotide variant Retinal dystrophy [RCV001073677] Chr3:129532261 [GRCh38]
Chr3:129251104 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.406T>C (p.Tyr136His) single nucleotide variant Retinal dystrophy [RCV001073863]|not provided [RCV002554684] Chr3:129530920 [GRCh38]
Chr3:129249763 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.808A>C (p.Ser270Arg) single nucleotide variant Retinal dystrophy [RCV001074085]|not provided [RCV001383089] Chr3:129532644 [GRCh38]
Chr3:129251487 [GRCh37]
Chr3:3q22.1
pathogenic|uncertain significance
NM_000539.3(RHO):c.152G>T (p.Gly51Val) single nucleotide variant Retinal dystrophy [RCV001074351]|not provided [RCV002557910] Chr3:129528885 [GRCh38]
Chr3:129247728 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.512C>A (p.Pro171Gln) single nucleotide variant Retinal dystrophy [RCV001074404]|Retinitis pigmentosa 4 [RCV001265188]|Retinitis pigmentosa [RCV001724238]|not provided [RCV001090663] Chr3:129531026 [GRCh38]
Chr3:129249869 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.646del (p.Pro215_Met216insTer) deletion Retinitis pigmentosa [RCV001249888]|not provided [RCV001066498] Chr3:129532366 [GRCh38]
Chr3:129251209 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.560G>T (p.Cys187Phe) single nucleotide variant Retinal dystrophy [RCV001074608]|Retinitis pigmentosa 4 [RCV001265197]|not provided [RCV001862569] Chr3:129532280 [GRCh38]
Chr3:129251123 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.94G>C (p.Ala32Pro) single nucleotide variant Retinal dystrophy [RCV001075054] Chr3:129528827 [GRCh38]
Chr3:129247670 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.1025C>T (p.Thr342Met) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001150104]|Retinitis pigmentosa [RCV000779383]|not provided [RCV001090667] Chr3:129533696 [GRCh38]
Chr3:129252539 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.908C>G (p.Pro303Arg) single nucleotide variant Retinitis pigmentosa [RCV000787685]|not provided [RCV003718295] Chr3:129532744 [GRCh38]
Chr3:129251587 [GRCh37]
Chr3:3q22.1
likely pathogenic|uncertain significance
NM_000539.3(RHO):c.540C>T (p.Pro180=) single nucleotide variant not provided [RCV000980944] Chr3:129532260 [GRCh38]
Chr3:129251103 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.53G>A (p.Gly18Asp) single nucleotide variant Retinitis pigmentosa 4 [RCV000767356]|Retinitis pigmentosa [RCV001003166]|not provided [RCV001366656] Chr3:129528786 [GRCh38]
Chr3:129247629 [GRCh37]
Chr3:3q22.1
pathogenic|uncertain significance
NM_000539.3(RHO):c.178T>C (p.Tyr60His) single nucleotide variant Retinal dystrophy [RCV004817984]|Retinitis pigmentosa 4 [RCV000767357]|not provided [RCV002533923] Chr3:129528911 [GRCh38]
Chr3:129247754 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.185C>A (p.Thr62Asn) single nucleotide variant Retinitis pigmentosa 4 [RCV000767358]|not provided [RCV001869053] Chr3:129528918 [GRCh38]
Chr3:129247761 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.218A>G (p.Asn73Ser) single nucleotide variant Retinitis pigmentosa 4 [RCV000767359]|Retinitis pigmentosa [RCV001199742] Chr3:129528951 [GRCh38]
Chr3:129247794 [GRCh37]
Chr3:3q22.1
pathogenic|uncertain significance
NM_000539.3(RHO):c.302G>T (p.Gly101Val) single nucleotide variant Retinitis pigmentosa 4 [RCV000767360]|not provided [RCV003558565] Chr3:129529035 [GRCh38]
Chr3:129247878 [GRCh37]
Chr3:3q22.1
pathogenic|uncertain significance
NM_000539.3(RHO):c.439C>T (p.Arg147Cys) single nucleotide variant Retinitis pigmentosa 4 [RCV000767361]|not provided [RCV001055425] Chr3:129530953 [GRCh38]
Chr3:129249796 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) single nucleotide variant Retinitis pigmentosa 4 [RCV000767362] Chr3:129532258 [GRCh38]
Chr3:129251101 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.755G>A (p.Arg252His) single nucleotide variant Retinitis pigmentosa 4 [RCV000767363]|not provided [RCV001855963] Chr3:129532591 [GRCh38]
Chr3:129251434 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.895G>A (p.Ala299Thr) single nucleotide variant Retinitis pigmentosa 4 [RCV000767364]|not provided [RCV001347353] Chr3:129532731 [GRCh38]
Chr3:129251574 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.913A>G (p.Ile305Val) single nucleotide variant Retinitis pigmentosa 4 [RCV000767365] Chr3:129532749 [GRCh38]
Chr3:129251592 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.1033G>T (p.Val345Leu) single nucleotide variant Retinitis pigmentosa [RCV000787676]|not provided [RCV001042727] Chr3:129533704 [GRCh38]
Chr3:129252547 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.317G>T (p.Gly106Val) single nucleotide variant Retinitis pigmentosa 4 [RCV000987329] Chr3:129529050 [GRCh38]
Chr3:129247893 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.937-2A>T single nucleotide variant Retinal dystrophy [RCV004818094]|Retinitis pigmentosa 4 [RCV000987332]|not provided [RCV004726755] Chr3:129533606 [GRCh38]
Chr3:129252449 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.934C>T (p.Gln312Ter) single nucleotide variant Retinitis pigmentosa [RCV000787686]|not provided [RCV001873211] Chr3:129532770 [GRCh38]
Chr3:129251613 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.408C>A (p.Tyr136Ter) single nucleotide variant Retinitis pigmentosa 4 [RCV000785958]|not provided [RCV001052650] Chr3:129530922 [GRCh38]
Chr3:129249765 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.*1278G>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001146087]|Retinitis pigmentosa [RCV001144194] Chr3:129534996 [GRCh38]
Chr3:129253839 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.47C>T (p.Ala16Val) single nucleotide variant not provided [RCV001055757] Chr3:129528780 [GRCh38]
Chr3:129247623 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.399C>A (p.Ile133=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001148424]|Congenital stationary night blindness autosomal dominant 1 [RCV001535704]|Retinitis pigmentosa [RCV001148423]|not provided [RCV001324702] Chr3:129530913 [GRCh38]
Chr3:129249756 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance|not provided
NM_000539.3(RHO):c.744G>A (p.Lys248=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001145774]|Retinitis pigmentosa [RCV001145775]|not provided [RCV001311612] Chr3:129532580 [GRCh38]
Chr3:129251423 [GRCh37]
Chr3:3q22.1
benign|likely benign|uncertain significance
NM_000539.3(RHO):c.*285G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001148652]|Retinitis pigmentosa [RCV001145870] Chr3:129534003 [GRCh38]
Chr3:129252846 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.630C>T (p.Val210=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001143872]|Retinitis pigmentosa [RCV001150000]|not provided [RCV001423121] Chr3:129532350 [GRCh38]
Chr3:129251193 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.*542G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001150226]|Retinitis pigmentosa [RCV001150225] Chr3:129534260 [GRCh38]
Chr3:129253103 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.361+10G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001145667]|Retinal dystrophy [RCV004813800]|Retinitis pigmentosa [RCV001145666]|not provided [RCV002070759] Chr3:129529104 [GRCh38]
Chr3:129247947 [GRCh37]
Chr3:3q22.1
benign|likely benign|uncertain significance
NM_000539.3(RHO):c.732G>A (p.Gln244=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001145772]|Retinitis pigmentosa [RCV001145773]|not provided [RCV002070760] Chr3:129532568 [GRCh38]
Chr3:129251411 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.754C>T (p.Arg252Cys) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001145776]|Retinitis pigmentosa 4 [RCV003389487]|Retinitis pigmentosa [RCV001145777] Chr3:129532590 [GRCh38]
Chr3:129251433 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.810C>A (p.Ser270Arg) single nucleotide variant Retinal dystrophy [RCV003889982]|Retinitis pigmentosa 4 [RCV001265161]|Retinitis pigmentosa [RCV000787684]|not provided [RCV001387000] Chr3:129532646 [GRCh38]
Chr3:129251489 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000539.3(RHO):c.*406G>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001148654]|Retinitis pigmentosa [RCV001148653] Chr3:129534124 [GRCh38]
Chr3:129252967 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.501C>G (p.Cys167Trp) single nucleotide variant not provided [RCV001090662] Chr3:129531015 [GRCh38]
Chr3:129249858 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.*551G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001150228]|Retinitis pigmentosa [RCV001150227] Chr3:129534269 [GRCh38]
Chr3:129253112 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.704C>A (p.Ala235Asp) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001143875]|Retinitis pigmentosa [RCV001145771] Chr3:129532540 [GRCh38]
Chr3:129251383 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*815G>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001145980]|Retinitis pigmentosa [RCV001145979] Chr3:129534533 [GRCh38]
Chr3:129253376 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*1294A>G single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001146088]|Retinitis pigmentosa [RCV001146089] Chr3:129535012 [GRCh38]
Chr3:129253855 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.527C>T (p.Ser176Phe) single nucleotide variant Retinitis pigmentosa 4 [RCV001265190]|not provided [RCV001061969] Chr3:129531041 [GRCh38]
Chr3:129249884 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|uncertain significance
NM_000539.3(RHO):c.-24G>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001145547]|Retinitis pigmentosa [RCV001149880] Chr3:129528710 [GRCh38]
Chr3:129247553 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.62G>A (p.Arg21His) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001145549]|Retinitis pigmentosa [RCV001145548]|not provided [RCV001858954] Chr3:129528795 [GRCh38]
Chr3:129247638 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.87C>T (p.Tyr29=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001145551]|Retinitis pigmentosa [RCV001145550] Chr3:129528820 [GRCh38]
Chr3:129247663 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.45T>G (p.Asn15Lys) single nucleotide variant Retinitis pigmentosa 4 [RCV000987328]|not provided [RCV001858663] Chr3:129528778 [GRCh38]
Chr3:129247621 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.1034T>C (p.Val345Ala) single nucleotide variant Retinitis pigmentosa 4 [RCV000987333]|not provided [RCV001378537] Chr3:129533705 [GRCh38]
Chr3:129252548 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.677T>C (p.Leu226Pro) single nucleotide variant not provided [RCV001205891] Chr3:129532397 [GRCh38]
Chr3:129251240 [GRCh37]
Chr3:3q22.1
conflicting interpretations of pathogenicity|uncertain significance
NM_000539.3(RHO):c.428T>A (p.Met143Lys) single nucleotide variant not provided [RCV001237449] Chr3:129530942 [GRCh38]
Chr3:129249785 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.1019C>T (p.Thr340Met) single nucleotide variant Retinal dystrophy [RCV003890352]|not provided [RCV001206828] Chr3:129533690 [GRCh38]
Chr3:129252533 [GRCh37]
Chr3:3q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000539.3(RHO):c.1010del (p.Val337fs) deletion not provided [RCV001241573] Chr3:129533681 [GRCh38]
Chr3:129252524 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.517G>A (p.Ala173Thr) single nucleotide variant Retinal dystrophy [RCV004813966]|not provided [RCV001238364] Chr3:129531031 [GRCh38]
Chr3:129249874 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.173C>T (p.Thr58Met) single nucleotide variant Occult macular dystrophy [RCV001265174]|not provided [RCV001242415] Chr3:129528906 [GRCh38]
Chr3:129247749 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*26C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001150105]|Retinitis pigmentosa [RCV001150106] Chr3:129533744 [GRCh38]
Chr3:129252587 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.892G>A (p.Ala298Thr) single nucleotide variant Pigmentary retinal dystrophy [RCV001199359]|not provided [RCV002559273] Chr3:129532728 [GRCh38]
Chr3:129251571 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.316G>C (p.Gly106Arg) single nucleotide variant not provided [RCV001229349] Chr3:129529049 [GRCh38]
Chr3:129247892 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.948C>T (p.Cys316=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001148540]|Retinitis pigmentosa [RCV001148539] Chr3:129533619 [GRCh38]
Chr3:129252462 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.644C>T (p.Pro215Leu) single nucleotide variant Retinal dystrophy [RCV004813728]|not provided [RCV001090665] Chr3:129532364 [GRCh38]
Chr3:129251207 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.*679A>G single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001145978]|Retinitis pigmentosa [RCV001144084] Chr3:129534397 [GRCh38]
Chr3:129253240 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.706C>T (p.Gln236Ter) single nucleotide variant Retinal dystrophy [RCV004814318] Chr3:129532542 [GRCh38]
Chr3:129251385 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.219_220delinsATACATCCTGCTCAACC (p.Asn73_Tyr74delinsLysTyrIleLeuLeuAsnHis) indel Retinal dystrophy [RCV004814232] Chr3:129528952..129528953 [GRCh38]
Chr3:129247795..129247796 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.527C>G (p.Ser176Cys) single nucleotide variant Retinal dystrophy [RCV004814247] Chr3:129531041 [GRCh38]
Chr3:129249884 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.968G>T (p.Cys323Phe) single nucleotide variant Retinal dystrophy [RCV004814262] Chr3:129533639 [GRCh38]
Chr3:129252482 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.26T>G (p.Phe9Cys) single nucleotide variant Retinal dystrophy [RCV004814135] Chr3:129528759 [GRCh38]
Chr3:129247602 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.84G>T (p.Gln28His) single nucleotide variant not provided [RCV001699940] Chr3:129528817 [GRCh38]
Chr3:129247660 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.937-6T>A single nucleotide variant not provided [RCV001700632] Chr3:129533602 [GRCh38]
Chr3:129252445 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NC_000003.11:g.(?_126707437)_(130720194_?)dup duplication Deafness-lymphedema-leukemia syndrome [RCV003113323]|not provided [RCV003107782] Chr3:126707437..130720194 [GRCh37]
Chr3:3q21.3-22.1
uncertain significance|no classifications from unflagged records
NM_000539.3(RHO):c.633C>T (p.His211=) single nucleotide variant not provided [RCV000921032] Chr3:129532353 [GRCh38]
Chr3:129251196 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.399C>T (p.Ile133=) single nucleotide variant not provided [RCV000916810] Chr3:129530913 [GRCh38]
Chr3:129249756 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.962T>A (p.Ile321Asn) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001150102]|Retinitis pigmentosa [RCV001150103]|not provided [RCV001068626] Chr3:129533633 [GRCh38]
Chr3:129252476 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.205C>T (p.Arg69Cys) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001145664]|Retinitis pigmentosa [RCV001145665] Chr3:129528938 [GRCh38]
Chr3:129247781 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.850G>T (p.Gly284Cys) single nucleotide variant not provided [RCV001208087] Chr3:129532686 [GRCh38]
Chr3:129251529 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.512C>G (p.Pro171Arg) single nucleotide variant Retinitis pigmentosa [RCV003388936]|not provided [RCV001208283] Chr3:129531026 [GRCh38]
Chr3:129249869 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|uncertain significance
NM_000539.3(RHO):c.578C>T (p.Thr193Met) single nucleotide variant Retinal dystrophy [RCV003887964]|not provided [RCV001245275] Chr3:129532298 [GRCh38]
Chr3:129251141 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.440G>A (p.Arg147His) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001148426]|Retinitis pigmentosa [RCV001148425]|not provided [RCV002559425] Chr3:129530954 [GRCh38]
Chr3:129249797 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.235del (p.Asn78_Leu79insTer) deletion not provided [RCV001231371] Chr3:129528967 [GRCh38]
Chr3:129247810 [GRCh37]
Chr3:3q22.1
pathogenic
NC_000003.12:g.(?_129170453)_(129551340_?)dup duplication not provided [RCV001031235] Chr3:128889296..129270183 [GRCh37]
Chr3:3q21.3-22.1
uncertain significance
NM_000539.3(RHO):c.631C>T (p.His211Tyr) single nucleotide variant not provided [RCV001227380] Chr3:129532351 [GRCh38]
Chr3:129251194 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.86A>G (p.Tyr29Cys) single nucleotide variant not provided [RCV001227379] Chr3:129528819 [GRCh38]
Chr3:129247662 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.799C>A (p.Pro267Thr) single nucleotide variant not provided [RCV001058214] Chr3:129532635 [GRCh38]
Chr3:129251478 [GRCh37]
Chr3:3q22.1
pathogenic|uncertain significance
NM_000539.3(RHO):c.190C>T (p.Gln64Ter) single nucleotide variant not provided [RCV001241342] Chr3:129528923 [GRCh38]
Chr3:129247766 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.697-11G>A single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001143873]|Retinitis pigmentosa [RCV001143874]|not provided [RCV002070735] Chr3:129532522 [GRCh38]
Chr3:129251365 [GRCh37]
Chr3:3q22.1
likely benign|uncertain significance
NM_000539.3(RHO):c.937-10T>A single nucleotide variant not provided [RCV001244010] Chr3:129533598 [GRCh38]
Chr3:129252441 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.519C>T (p.Ala173=) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001148427]|Retinitis pigmentosa [RCV001149999]|not provided [RCV000913183] Chr3:129531033 [GRCh38]
Chr3:129249876 [GRCh37]
Chr3:3q22.1
benign|likely benign
NM_000539.3(RHO):c.376T>G (p.Trp126Gly) single nucleotide variant Retinal dystrophy [RCV004814300] Chr3:129530890 [GRCh38]
Chr3:129249733 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.503C>T (p.Ala168Val) single nucleotide variant Retinal dystrophy [RCV004814106] Chr3:129531017 [GRCh38]
Chr3:129249860 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.569A>T (p.Asp190Val) single nucleotide variant Retinal dystrophy [RCV004814511] Chr3:129532289 [GRCh38]
Chr3:129251132 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.696+9C>T single nucleotide variant RHO-related disorder [RCV003923162]|not provided [RCV000911506] Chr3:129532425 [GRCh38]
Chr3:129251268 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.804C>T (p.Tyr268=) single nucleotide variant not provided [RCV000890892] Chr3:129532640 [GRCh38]
Chr3:129251483 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.1034T>G (p.Val345Gly) single nucleotide variant Retinal dystrophy [RCV004814098] Chr3:129533705 [GRCh38]
Chr3:129252548 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.130A>G (p.Met44Val) single nucleotide variant Retinal dystrophy [RCV004814218] Chr3:129528863 [GRCh38]
Chr3:129247706 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.495G>T (p.Leu165=) single nucleotide variant not provided [RCV000933720] Chr3:129531009 [GRCh38]
Chr3:129249852 [GRCh37]
Chr3:3q22.1
likely benign
NM_000539.3(RHO):c.182T>A (p.Val61Asp) single nucleotide variant Retinal dystrophy [RCV004814310] Chr3:129528915 [GRCh38]
Chr3:129247758 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.937-2A>C single nucleotide variant not provided [RCV001723379] Chr3:129533606 [GRCh38]
Chr3:129252449 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.937-23G>A single nucleotide variant not provided [RCV001717760] Chr3:129533585 [GRCh38]
Chr3:129252428 [GRCh37]
Chr3:3q22.1
benign
NM_000539.3(RHO):c.888G>C (p.Lys296Asn) single nucleotide variant Retinal dystrophy [RCV004813923]|Retinitis pigmentosa 4 [RCV001265163]|not provided [RCV001228505] Chr3:129532724 [GRCh38]
Chr3:129251567 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.*1179T>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001144192]|Retinitis pigmentosa [RCV001144193] Chr3:129534897 [GRCh38]
Chr3:129253740 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.44A>T (p.Asn15Ile) single nucleotide variant not provided [RCV001093177] Chr3:129528777 [GRCh38]
Chr3:129247620 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.979_980del (p.Pro327fs) deletion not provided [RCV000999545] Chr3:129533649..129533650 [GRCh38]
Chr3:129252492..129252493 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.941G>A (p.Arg314Gln) single nucleotide variant Retinal dystrophy [RCV003888313]|not provided [RCV001700877] Chr3:129533612 [GRCh38]
Chr3:129252455 [GRCh37]
Chr3:3q22.1
benign|uncertain significance
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) single nucleotide variant Retinal dystrophy [RCV001073614]|Retinitis pigmentosa 4 [RCV001265168]|not provided [RCV001213688]|not specified [RCV001002602] Chr3:129533692 [GRCh38]
Chr3:129252535 [GRCh37]
Chr3:3q22.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000539.3(RHO):c.568G>C (p.Asp190His) single nucleotide variant Retinal dystrophy [RCV004815598]|Retinitis pigmentosa [RCV001724812]|not provided [RCV002539737] Chr3:129532288 [GRCh38]
Chr3:129251131 [GRCh37]
Chr3:3q22.1
likely pathogenic|uncertain significance
NM_000539.3(RHO):c.936+1G>T single nucleotide variant Retinitis pigmentosa 4 [RCV001265165]|Retinitis pigmentosa [RCV001724222]|not provided [RCV001060212] Chr3:129532773 [GRCh38]
Chr3:129251616 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.647T>A (p.Met216Lys) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001542566]|Retinal dystrophy [RCV001073436]|Retinitis pigmentosa 4 [RCV001265200]|not provided [RCV001090666] Chr3:129532367 [GRCh38]
Chr3:129251210 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000539.3(RHO):c.325G>A (p.Gly109Arg) single nucleotide variant Retinal dystrophy [RCV001073984]|Retinitis pigmentosa 4 [RCV001265179]|not provided [RCV001862531] Chr3:129529058 [GRCh38]
Chr3:129247901 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.1045T>C (p.Ter349Gln) single nucleotide variant Retinal dystrophy [RCV001073991]|not provided [RCV001862814] Chr3:129533716 [GRCh38]
Chr3:129252559 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.925A>T (p.Met309Leu) single nucleotide variant Retinal dystrophy [RCV001074284]|not provided [RCV001341016] Chr3:129532761 [GRCh38]
Chr3:129251604 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.279C>G (p.Ser93Arg) single nucleotide variant Retinal dystrophy [RCV001074739] Chr3:129529012 [GRCh38]
Chr3:129247855 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.710A>T (p.Gln237Leu) single nucleotide variant not provided [RCV001214959] Chr3:129532546 [GRCh38]
Chr3:129251389 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.1030C>G (p.Gln344Glu) single nucleotide variant Retinal dystrophy [RCV001075013]|not provided [RCV002554735] Chr3:129533701 [GRCh38]
Chr3:129252544 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.551A>G (p.Gln184Arg) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001535689]|Pigmentary retinal dystrophy [RCV002249673]|Retinal dystrophy [RCV001075493]|Retinitis pigmentosa 4 [RCV003447316]|not provided [RCV001337215] Chr3:129532271 [GRCh38]
Chr3:129251114 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000539.3(RHO):c.*573C>T single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001144081]|Retinitis pigmentosa [RCV001150229] Chr3:129534291 [GRCh38]
Chr3:129253134 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.696+1G>C single nucleotide variant not provided [RCV001050989] Chr3:129532417 [GRCh38]
Chr3:129251260 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) single nucleotide variant RHO-related disorder [RCV004756151]|Retinitis pigmentosa 4 [RCV001265198]|not provided [RCV001041691]|not specified [RCV001001281] Chr3:129532283 [GRCh38]
Chr3:129251126 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.209C>T (p.Thr70Met) single nucleotide variant Retinitis pigmentosa [RCV003483756]|not provided [RCV001035632] Chr3:129528942 [GRCh38]
Chr3:129247785 [GRCh37]
Chr3:3q22.1
uncertain significance|not provided
NM_000539.3(RHO):c.570C>G (p.Asp190Glu) single nucleotide variant not provided [RCV001235206] Chr3:129532290 [GRCh38]
Chr3:129251133 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic|uncertain significance
NM_000539.3(RHO):c.452A>G (p.Asn151Ser) single nucleotide variant not provided [RCV001203997] Chr3:129530966 [GRCh38]
Chr3:129249809 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.*670A>C single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001144083]|Retinitis pigmentosa [RCV001144082] Chr3:129534388 [GRCh38]
Chr3:129253231 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.571T>A (p.Tyr191Asn) single nucleotide variant Retinitis pigmentosa 4 [RCV001027721] Chr3:129532291 [GRCh38]
Chr3:129251134 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.1032G>C (p.Gln344His) single nucleotide variant Retinal dystrophy [RCV001073659]|Retinitis pigmentosa [RCV001199741]|not provided [RCV001724208] Chr3:129533703 [GRCh38]
Chr3:129252546 [GRCh37]
Chr3:3q22.1
pathogenic|uncertain significance
NM_000539.3(RHO):c.58G>A (p.Val20Ile) single nucleotide variant Retinal dystrophy [RCV001073770]|not provided [RCV001862809] Chr3:129528791 [GRCh38]
Chr3:129247634 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.341G>T (p.Gly114Val) single nucleotide variant Retinal dystrophy [RCV001073876]|not provided [RCV003558653] Chr3:129529074 [GRCh38]
Chr3:129247917 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.548_638dup (p.Ile214fs) duplication Retinitis pigmentosa [RCV001003170] Chr3:129532266..129532267 [GRCh38]
Chr3:129251109..129251110 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.229C>T (p.Leu77Phe) single nucleotide variant not provided [RCV001204435] Chr3:129528962 [GRCh38]
Chr3:129247805 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.31G>A (p.Val11Met) single nucleotide variant Retinal dystrophy [RCV001074222]|not provided [RCV001862544] Chr3:129528764 [GRCh38]
Chr3:129247607 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.538C>T (p.Pro180Ser) single nucleotide variant not provided [RCV001040314] Chr3:129532258 [GRCh38]
Chr3:129251101 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) single nucleotide variant Retinitis pigmentosa 4 [RCV001265196]|Retinitis pigmentosa [RCV001003171]|not provided [RCV001229176] Chr3:129532280 [GRCh38]
Chr3:129251123 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.172_173delinsTA (p.Thr58Ter) indel Retinal dystrophy [RCV001075164]|not provided [RCV003718311] Chr3:129528905..129528906 [GRCh38]
Chr3:129247748..129247749 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.328T>C (p.Cys110Arg) single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001542565]|Retinal dystrophy [RCV001075603]|Retinitis pigmentosa 4 [RCV001265180]|Retinitis pigmentosa [RCV003324555]|not provided [RCV001389459] Chr3:129529061 [GRCh38]
Chr3:129247904 [GRCh37]
Chr3:3q22.1
pathogenic|likely pathogenic
NM_000539.3(RHO):c.137T>G (p.Leu46Arg) single nucleotide variant not provided [RCV001090661] Chr3:129528870 [GRCh38]
Chr3:129247713 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.632A>G (p.His211Arg) single nucleotide variant not provided [RCV001090664] Chr3:129532352 [GRCh38]
Chr3:129251195 [GRCh37]
Chr3:3q22.1
pathogenic
NM_000539.3(RHO):c.969C>A (p.Cys323Ter) single nucleotide variant Retinal dystrophy [RCV001074778]|not provided [RCV001035033] Chr3:129533640 [GRCh38]
Chr3:129252483 [GRCh37]
Chr3:3q22.1
likely pathogenic|uncertain significance
NM_000539.3(RHO):c.*959A>G single nucleotide variant Congenital stationary night blindness autosomal dominant 1 [RCV001253990]|Retinitis pigmentosa [RCV001253989] Chr3:129534677 [GRCh38]
Chr3:129253520 [GRCh37]
Chr3:3q22.1
benign|uncertain significance
NM_000539.3(RHO):c.778_789del (p.Ala260_Ile263del) deletion Retinitis pigmentosa 4 [RCV001265159] Chr3:129532611..129532622 [GRCh38]
Chr3:129251454..129251465 [GRCh37]
Chr3:3q22.1
uncertain significance
NM_000539.3(RHO):c.929del (p.Asn310fs) deletion Retinitis pigmentosa 4 [RCV001265164] Chr3:129532764 [GRCh38]
Chr3:129251607 [GRCh37]
Chr3:3q22.1
likely pathogenic
NM_000539.3(RHO):c.953_955del (p.Leu318_Thr319delinsPro) deletion Retinitis pigmentosa 4 [RCV001265166]|not provided [RCV001296379] Chr3:129533624..129533626 [GRCh38]
C