CNGB3 (cyclic nucleotide gated channel subunit beta 3) - Rat Genome Database

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Gene: CNGB3 (cyclic nucleotide gated channel subunit beta 3) Homo sapiens
Analyze
Symbol: CNGB3
Name: cyclic nucleotide gated channel subunit beta 3
RGD ID: 1352344
HGNC Page HGNC:2153
Description: Enables cGMP binding activity and intracellularly cGMP-activated cation channel activity. Involved in monoatomic cation transport. Located in plasma membrane. Part of transmembrane transporter complex. Implicated in achromatopsia 3 and color blindness.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACHM1; ACHM3; achromatopsia (rod monochromacy) 1; CNG channel beta-3; cone photoreceptor cGMP-gated cation channel beta-subunit; cyclic nucleotide gated channel beta 3; cyclic nucleotide-gated cation channel beta-3; cyclic nucleotide-gated cation channel modulatory subunit; cyclic nucleotide-gated channel beta-3; RMCH; RMCH1
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
GRCh38886,574,179 - 86,743,634 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl886,553,977 - 86,743,675 (-)EnsemblGRCh38hg38GRCh38
GRCh37887,586,407 - 87,755,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36887,655,277 - 87,825,017 (-)NCBINCBI36Build 36hg18NCBI36
Build 34887,655,278 - 87,825,017NCBI
Celera883,780,714 - 83,950,463 (-)NCBICelera
Cytogenetic Map8q21.3NCBI
HuRef882,795,582 - 82,965,151 (-)NCBIHuRef
CHM1_1887,627,665 - 87,797,926 (-)NCBICHM1_1
T2T-CHM13v2.0887,694,425 - 87,863,851 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal choroid morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal foveal morphology  (IAGP)
Abnormal macular morphology  (IAGP)
Abnormal pupillary light reflex  (IAGP)
Abnormality of macular pigmentation  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Absent foveal reflex  (IAGP)
Achromatopsia  (IAGP)
Aplasia/Hypoplasia of the macula  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal recessive inheritance  (IAGP)
Cataract  (IAGP)
Central scotoma  (IAGP)
Color vision defect  (IAGP)
Color vision test abnormality  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Dyschromatopsia  (IAGP)
Eccentric visual fixation  (IAGP)
High myopia  (IAGP)
Horizontal pendular nystagmus  (IAGP)
Hypermetropia  (IAGP)
Hypoplasia of the fovea  (IAGP)
Inner retinal layer loss on macular OCT  (IAGP)
Macular degeneration  (IAGP)
Macular dystrophy  (IAGP)
Moderately reduced visual acuity  (IAGP)
Monochromacy  (IAGP)
Myopia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Pendular nystagmus  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Reduced visual acuity  (IAGP)
Retinal dystrophy  (IAGP)
Retinal pigment epithelial atrophy  (IAGP)
Retinal pigment epithelial mottling  (IAGP)
Retinal thinning  (IAGP)
Rod-cone dystrophy  (IAGP)
Severely reduced visual acuity  (IAGP)
Undetectable light-adapted electroretinogram  (IAGP)
Visual impairment  (IAGP)
Yellow/white lesions of the macula  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Calcium signalling remodelling and disease. Berridge MJ Biochem Soc Trans. 2012 Apr;40(2):297-309. doi: 10.1042/BST20110766.
2. Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Carvalho LS, etal., Hum Mol Genet. 2011 Aug 15;20(16):3161-75. doi: 10.1093/hmg/ddr218. Epub 2011 May 15.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Cyclic nucleotide-gated ion channels. Kaupp UB and Seifert R, Physiol Rev. 2002 Jul;82(3):769-824.
5. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Kohl S, etal., Hum Mol Genet. 2000 Sep 1;9(14):2107-16.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Wiszniewski W, etal., Hum Genet. 2007 May;121(3-4):433-9. Epub 2007 Jan 31.
Additional References at PubMed
PMID:1347967   PMID:10330355   PMID:10888875   PMID:12477932   PMID:12730238   PMID:12815043   PMID:14757870   PMID:15134637   PMID:15161866   PMID:15223812   PMID:15657609   PMID:15712225  
PMID:16319819   PMID:16379026   PMID:16382102   PMID:17018579   PMID:17286855   PMID:17651254   PMID:17652762   PMID:19592100   PMID:19767295   PMID:20079539   PMID:20301591   PMID:20378608  
PMID:20379614   PMID:20454696   PMID:20801516   PMID:21267001   PMID:21873635   PMID:23362848   PMID:23805033   PMID:23940504   PMID:24164424   PMID:24664743   PMID:24676353   PMID:25558176  
PMID:25798074   PMID:27479814   PMID:28145975   PMID:28795510   PMID:28929832   PMID:29020838   PMID:31544997   PMID:31862882   PMID:32151571   PMID:32397729   PMID:33560291   PMID:34449556  
PMID:34703197   PMID:36736316   PMID:37158316   PMID:37372476   PMID:37463923  


Genomics

Comparative Map Data
CNGB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38886,574,179 - 86,743,634 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl886,553,977 - 86,743,675 (-)EnsemblGRCh38hg38GRCh38
GRCh37887,586,407 - 87,755,862 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36887,655,277 - 87,825,017 (-)NCBINCBI36Build 36hg18NCBI36
Build 34887,655,278 - 87,825,017NCBI
Celera883,780,714 - 83,950,463 (-)NCBICelera
Cytogenetic Map8q21.3NCBI
HuRef882,795,582 - 82,965,151 (-)NCBIHuRef
CHM1_1887,627,665 - 87,797,926 (-)NCBICHM1_1
T2T-CHM13v2.0887,694,425 - 87,863,851 (-)NCBIT2T-CHM13v2.0
Cngb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39419,280,850 - 19,510,623 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl419,280,850 - 19,510,623 (+)EnsemblGRCm39 Ensembl
GRCm38419,280,850 - 19,510,623 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl419,280,850 - 19,510,623 (+)EnsemblGRCm38mm10GRCm38
MGSCv37419,207,997 - 19,437,770 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36419,207,997 - 19,437,770 (+)NCBIMGSCv36mm8
Celera419,042,770 - 19,272,553 (+)NCBICelera
Cytogenetic Map4A3NCBI
cM Map47.42NCBI
Cngb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8537,543,903 - 37,792,030 (+)NCBIGRCr8
mRatBN7.2532,746,988 - 32,995,121 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl532,746,988 - 32,995,121 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx534,860,111 - 35,109,275 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0536,452,691 - 36,701,842 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0536,391,804 - 36,640,963 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0533,097,353 - 33,507,467 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl533,097,654 - 33,507,467 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0538,090,335 - 38,161,871 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0537,757,561 - 38,027,396 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4533,867,639 - 34,136,940 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera531,864,644 - 32,091,469 (+)NCBICelera
Cytogenetic Map5q13NCBI
Cngb3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554174,168,766 - 4,300,437 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554174,164,328 - 4,288,516 (-)NCBIChiLan1.0ChiLan1.0
CNGB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27103,976,343 - 104,146,902 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1879,515,298 - 79,685,793 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0883,269,589 - 83,439,999 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1885,238,043 - 85,407,023 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl885,238,043 - 85,407,059 (-)Ensemblpanpan1.1panPan2
CNGB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12932,744,946 - 32,992,715 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2932,749,389 - 32,893,077 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2932,904,962 - 33,048,456 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02932,900,394 - 33,163,070 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2932,904,840 - 33,048,604 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12932,947,981 - 33,091,326 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02932,973,137 - 33,116,009 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02933,393,790 - 33,536,962 (-)NCBIUU_Cfam_GSD_1.0
Cngb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530346,487,382 - 46,625,809 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365441,166,508 - 1,305,457 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365441,166,896 - 1,305,339 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CNGB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl450,112,927 - 50,263,222 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1450,112,927 - 50,263,264 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2455,027,871 - 55,179,235 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CNGB3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1881,757,567 - 81,911,256 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl881,759,642 - 81,909,760 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603959,040,485 - 59,192,743 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cngb3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247445,042,494 - 5,207,818 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247445,059,957 - 5,209,144 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CNGB3
1035 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe) single nucleotide variant Achromatopsia 3 [RCV000005532]|not provided [RCV001243215] Chr8:86632768 [GRCh38]
Chr8:87644996 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) single nucleotide variant Achromatopsia 3 [RCV000005533]|Achromatopsia [RCV001272489]|Retinal dystrophy [RCV001074242]|not provided [RCV001068378] Chr8:86668055 [GRCh38]
Chr8:87680283 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
CNGB3, 1-BP INS, 492T single nucleotide variant Achromatopsia 3 [RCV000005534] Chr8:8q21-q22 pathogenic
CNGB3, 8-BP DEL, NT819 deletion Achromatopsia 3 [RCV000005537] Chr8:8q21-q22 pathogenic
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) single nucleotide variant Achromatopsia 3 [RCV000497748]|Achromatopsia [RCV001276134]|Severe early-childhood-onset retinal dystrophy [RCV000005538]|not provided [RCV000881356]|not specified [RCV000378015] Chr8:86628994 [GRCh38]
Chr8:87641222 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|benign|likely benign|uncertain significance
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly) single nucleotide variant Achromatopsia 3 [RCV001164343]|Severe early-childhood-onset retinal dystrophy [RCV001164344]|not provided [RCV000727616] Chr8:86579136 [GRCh38]
Chr8:87591364 [GRCh37]
Chr8:8q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) single nucleotide variant Abnormality of the eye [RCV000501136]|Achromatopsia 3 [RCV000174144]|Achromatopsia [RCV000597492]|Retinitis pigmentosa [RCV000678546]|Severe early-childhood-onset retinal dystrophy [RCV001164460]|not provided [RCV000132679]|not specified [RCV000435881] Chr8:86632864 [GRCh38]
Chr8:87645092 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) deletion Abnormality of the eye [RCV000504797]|Achromatopsia 3 [RCV000005535]|Achromatopsia [RCV000328174]|CNGB3-Related Disorders [RCV000778111]|CNGB3-related condition [RCV003982826]|Cone-rod dystrophy [RCV000787571]|Leber congenital amaurosis [RCV000505026]|Retinal dystrophy [RCV000504902]|Retinitis pigmentosa [RCV000787822]|not provided [RCV000081978] Chr8:86643781 [GRCh38]
Chr8:87656009 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|drug response|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|See cases [RCV000053676] Chr8:85835757..93610142 [GRCh38]
Chr8:86847986..94622370 [GRCh37]
Chr8:86917086..94691546 [NCBI36]
Chr8:8q21.2-22.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3		 pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1		 pathogenic
NM_019098.5(CNGB3):c.2365G>A (p.Ala789Thr) single nucleotide variant not provided [RCV003078387] Chr8:86575869 [GRCh38]
Chr8:87588097 [GRCh37]
Chr8:87657213 [NCBI36]
Chr8:8q21.3		 uncertain significance|not provided
NM_019098.5(CNGB3):c.1700G>A (p.Gly567Glu) single nucleotide variant Achromatopsia [RCV000787573] Chr8:86604174 [GRCh38]
Chr8:87616402 [GRCh37]
Chr8:87685518 [NCBI36]
Chr8:8q21.3		 likely pathogenic|not provided
NM_019098.4(CNGB3):c.1172G>A (p.Gly391Glu) single nucleotide variant Malignant melanoma [RCV000068433] Chr8:86643757 [GRCh38]
Chr8:87655985 [GRCh37]
Chr8:87725101 [NCBI36]
Chr8:8q21.3		 not provided
NM_019098.4(CNGB3):c.1162G>A (p.Asp388Asn) single nucleotide variant Malignant melanoma [RCV000068434] Chr8:86643767 [GRCh38]
Chr8:87655995 [GRCh37]
Chr8:87725111 [NCBI36]
Chr8:8q21.3		 not provided
NM_019098.4(CNGB3):c.1062T>C (p.Ile354=) single nucleotide variant Malignant melanoma [RCV000068435] Chr8:86643867 [GRCh38]
Chr8:87656095 [GRCh37]
Chr8:87725211 [NCBI36]
Chr8:8q21.3		 not provided
NM_019098.4(CNGB3):c.1060A>T (p.Ile354Phe) single nucleotide variant Malignant melanoma [RCV000068436] Chr8:86643869 [GRCh38]
Chr8:87656097 [GRCh37]
Chr8:87725213 [NCBI36]
Chr8:8q21.3		 not provided
NM_019098.4(CNGB3):c.961C>T (p.Pro321Ser) single nucleotide variant Malignant melanoma [RCV000068437] Chr8:86647830 [GRCh38]
Chr8:87660058 [GRCh37]
Chr8:87729174 [NCBI36]
Chr8:8q21.3		 not provided
NM_019098.5(CNGB3):c.384C>T (p.Ala128=) single nucleotide variant not provided [RCV000086970] Chr8:86671053 [GRCh38]
Chr8:87683281 [GRCh37]
Chr8:8q21.3		 likely benign|not provided
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) single nucleotide variant Achromatopsia 3 [RCV000388205]|Achromatopsia [RCV001826781]|Severe early-childhood-onset retinal dystrophy [RCV000331894]|not provided [RCV000086971]|not specified [RCV000242664] Chr8:86743548 [GRCh38]
Chr8:87755776 [GRCh37]
Chr8:8q21.3		 benign|likely benign|uncertain significance|not provided
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) single nucleotide variant Achromatopsia 3 [RCV000988077]|Achromatopsia [RCV001831882]|Severe early-childhood-onset retinal dystrophy [RCV000373837]|not provided [RCV001522472]|not specified [RCV000081979] Chr8:86654023 [GRCh38]
Chr8:87666251 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.424A>G (p.Arg142Gly) single nucleotide variant not provided [RCV001348209] Chr8:86671013 [GRCh38]
Chr8:87683241 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.212-14dup duplication not provided [RCV001394525] Chr8:86726662..86726663 [GRCh38]
Chr8:87738890..87738891 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2086C>T (p.Arg696Ter) single nucleotide variant Achromatopsia 3 [RCV000576598]|not provided [RCV000893388] Chr8:86578706 [GRCh38]
Chr8:87590934 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.1607T>C (p.Met536Thr) single nucleotide variant Achromatopsia [RCV001826880]|not provided [RCV000174786] Chr8:86611643 [GRCh38]
Chr8:87623871 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1688T>C (p.Ile563Thr) single nucleotide variant not provided [RCV000174940] Chr8:86604186 [GRCh38]
Chr8:87616414 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1		 pathogenic
GRCh38/hg38 8q21.3(chr8:86734484-87280161)x1 copy number loss See cases [RCV000137440] Chr8:86734484..87280161 [GRCh38]
Chr8:87746712..88292389 [GRCh37]
Chr8:87815828..88361505 [NCBI36]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q21.2-21.3(chr8:83721453-87866414)x3 copy number gain See cases [RCV000143246] Chr8:83721453..87866414 [GRCh38]
Chr8:84633688..88878642 [GRCh37]
Chr8:84796243..88947758 [NCBI36]
Chr8:8q21.2-21.3		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) single nucleotide variant Achromatopsia 3 [RCV000367023]|Achromatopsia [RCV001275879]|Severe early-childhood-onset retinal dystrophy [RCV000331014]|not provided [RCV001522470]|not specified [RCV000153049] Chr8:86575970 [GRCh38]
Chr8:87588198 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=) single nucleotide variant Achromatopsia 3 [RCV000381879]|Achromatopsia [RCV001275880]|Severe early-childhood-onset retinal dystrophy [RCV000287491]|not provided [RCV001522471]|not specified [RCV000153053] Chr8:86576020 [GRCh38]
Chr8:87588248 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) single nucleotide variant Achromatopsia 3 [RCV001160703]|Achromatopsia [RCV001276120]|Severe early-childhood-onset retinal dystrophy [RCV001160702]|not provided [RCV000885622]|not specified [RCV000245417] Chr8:86575819 [GRCh38]
Chr8:87588047 [GRCh37]
Chr8:8q21.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) single nucleotide variant Achromatopsia 3 [RCV000169161]|Achromatopsia [RCV001826865]|not provided [RCV001204119] Chr8:86671046 [GRCh38]
Chr8:87683274 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.991-3T>G single nucleotide variant Achromatopsia 3 [RCV000169173]|Leber congenital amaurosis [RCV000678548]|Retinal dystrophy [RCV001074271]|not provided [RCV001036288] Chr8:86644689 [GRCh38]
Chr8:87656917 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|no classifications from unflagged records
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter) single nucleotide variant Achromatopsia 3 [RCV000169174]|Achromatopsia [RCV000596854]|not provided [RCV001380986] Chr8:86743516 [GRCh38]
Chr8:87755744 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) single nucleotide variant Achromatopsia 3 [RCV000169194]|Achromatopsia [RCV001831988]|not provided [RCV001380985] Chr8:86667131 [GRCh38]
Chr8:87679359 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) single nucleotide variant Achromatopsia 3 [RCV000169343]|Achromatopsia [RCV000761286]|Retinal dystrophy [RCV001074313]|not provided [RCV000809121] Chr8:86644671 [GRCh38]
Chr8:87656899 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.1578+1G>A single nucleotide variant Achromatopsia 3 [RCV000169421]|Achromatopsia [RCV000592120]|CNGB3-related condition [RCV003954992]|not provided [RCV000724126] Chr8:86625982 [GRCh38]
Chr8:87638210 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) single nucleotide variant Achromatopsia 3 [RCV000169624]|Retinal dystrophy [RCV001074476]|not provided [RCV000255345] Chr8:86643810 [GRCh38]
Chr8:87656038 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.539C>T (p.Pro180Leu) single nucleotide variant not provided [RCV000178974] Chr8:86668123 [GRCh38]
Chr8:87680351 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe) single nucleotide variant Achromatopsia 3 [RCV000265676]|Severe early-childhood-onset retinal dystrophy [RCV000302120]|not provided [RCV000312509] Chr8:86667107 [GRCh38]
Chr8:87679335 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys) single nucleotide variant Achromatopsia 3 [RCV000670529]|Achromatopsia [RCV001272481]|Retinitis pigmentosa [RCV000678547]|not provided [RCV001058379] Chr8:86604202 [GRCh38]
Chr8:87616430 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1179-38T>C single nucleotide variant Achromatopsia 3 [RCV001543742]|not provided [RCV001725152]|not specified [RCV000249378] Chr8:86632931 [GRCh38]
Chr8:87645159 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=) single nucleotide variant Achromatopsia 3 [RCV000276714]|Achromatopsia [RCV001833278]|Severe early-childhood-onset retinal dystrophy [RCV000370896]|not provided [RCV001510372]|not specified [RCV000254349] Chr8:86629043 [GRCh38]
Chr8:87641271 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.2115T>C (p.Asn705=) single nucleotide variant not provided [RCV001494624] Chr8:86576119 [GRCh38]
Chr8:87588347 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) single nucleotide variant Achromatopsia 3 [RCV000498988]|Achromatopsia [RCV001272738]|Severe early-childhood-onset retinal dystrophy [RCV001162414]|not provided [RCV000961874]|not specified [RCV000244737] Chr8:86629002 [GRCh38]
Chr8:87641230 [GRCh37]
Chr8:8q21.3		 benign|uncertain significance
NM_019098.5(CNGB3):c.354G>T (p.Pro118=) single nucleotide variant Achromatopsia 3 [RCV001161027]|Achromatopsia [RCV001272491]|Severe early-childhood-onset retinal dystrophy [RCV001161026]|not provided [RCV000961891]|not specified [RCV000242350] Chr8:86671083 [GRCh38]
Chr8:87683311 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln) single nucleotide variant Achromatopsia 3 [RCV000372970]|Achromatopsia [RCV001833280]|Severe early-childhood-onset retinal dystrophy [RCV000316050]|not provided [RCV001522474]|not specified [RCV000247338] Chr8:86668054 [GRCh38]
Chr8:87680282 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.211+13T>G single nucleotide variant Achromatopsia 3 [RCV000357426]|Severe early-childhood-onset retinal dystrophy [RCV000274434]|not provided [RCV001513345]|not specified [RCV000245103] Chr8:86739642 [GRCh38]
Chr8:87751870 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.853-45T>C single nucleotide variant not specified [RCV000247639] Chr8:86654107 [GRCh38]
Chr8:87666335 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) single nucleotide variant Achromatopsia 3 [RCV000286399]|Achromatopsia [RCV001272487]|Severe early-childhood-onset retinal dystrophy [RCV000376272]|not provided [RCV001510548]|not specified [RCV000242961] Chr8:86647872 [GRCh38]
Chr8:87660100 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.1781+10A>T single nucleotide variant Achromatopsia 3 [RCV000284921]|Achromatopsia [RCV001833279]|Severe early-childhood-onset retinal dystrophy [RCV000339899]|not provided [RCV001516848]|not specified [RCV000248063] Chr8:86604083 [GRCh38]
Chr8:87616311 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.339-10dup duplication Achromatopsia [RCV000287714]|Stargardt Disease, Recessive [RCV000344776]|not provided [RCV000961892]|not specified [RCV000250380] Chr8:86671107..86671108 [GRCh38]
Chr8:87683335..87683336 [GRCh37]
Chr8:8q21.3		 benign|likely benign|uncertain significance
NM_019098.5(CNGB3):c.1439G>A (p.Arg480Gln) single nucleotide variant Achromatopsia [RCV001276132]|not provided [RCV000766832]|not specified [RCV000522020] Chr8:86628960 [GRCh38]
Chr8:87641188 [GRCh37]
Chr8:8q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.2103+23C>G single nucleotide variant not provided [RCV001689890]|not specified [RCV000253030] Chr8:86578666 [GRCh38]
Chr8:87590894 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) single nucleotide variant Achromatopsia 3 [RCV000988079]|Achromatopsia [RCV001833281]|Severe early-childhood-onset retinal dystrophy [RCV000364988]|not provided [RCV001522473]|not specified [RCV000250693] Chr8:86667075 [GRCh38]
Chr8:87679303 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.624C>T (p.Asn208=) single nucleotide variant Achromatopsia 3 [RCV000267952]|Severe early-childhood-onset retinal dystrophy [RCV000361581]|not provided [RCV000927857] Chr8:86668038 [GRCh38]
Chr8:87680266 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr) single nucleotide variant Achromatopsia 3 [RCV000301489]|Achromatopsia [RCV001276129]|Severe early-childhood-onset retinal dystrophy [RCV000356262]|not provided [RCV000931567] Chr8:86626030 [GRCh38]
Chr8:87638258 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.*1459C>T single nucleotide variant Achromatopsia 3 [RCV000268759]|Severe early-childhood-onset retinal dystrophy [RCV000363365] Chr8:86574345 [GRCh38]
Chr8:87586573 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*621G>A single nucleotide variant Achromatopsia 3 [RCV000372583]|Severe early-childhood-onset retinal dystrophy [RCV000322621] Chr8:86575183 [GRCh38]
Chr8:87587411 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr) single nucleotide variant Achromatopsia 3 [RCV000322833]|Achromatopsia [RCV001272747]|Severe early-childhood-onset retinal dystrophy [RCV000372778]|not provided [RCV000762528] Chr8:86647878 [GRCh38]
Chr8:87660106 [GRCh37]
Chr8:8q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.738C>T (p.Thr246=) single nucleotide variant Achromatopsia 3 [RCV000345096]|Severe early-childhood-onset retinal dystrophy [RCV000390143]|not provided [RCV001489377] Chr8:86667039 [GRCh38]
Chr8:87679267 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val) single nucleotide variant Achromatopsia 3 [RCV000394996]|Severe early-childhood-onset retinal dystrophy [RCV000286042] Chr8:86604160 [GRCh38]
Chr8:87616388 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*735A>G single nucleotide variant Achromatopsia 3 [RCV000271226]|Severe early-childhood-onset retinal dystrophy [RCV000302975] Chr8:86575069 [GRCh38]
Chr8:87587297 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.*293T>C single nucleotide variant Achromatopsia 3 [RCV000389094]|Severe early-childhood-onset retinal dystrophy [RCV000348561] Chr8:86575511 [GRCh38]
Chr8:87587739 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*51C>T single nucleotide variant Achromatopsia 3 [RCV000305713]|Severe early-childhood-onset retinal dystrophy [RCV000360498] Chr8:86575753 [GRCh38]
Chr8:87587981 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.212-3T>C single nucleotide variant Achromatopsia 3 [RCV000306056]|Achromatopsia [RCV001272755]|Severe early-childhood-onset retinal dystrophy [RCV000353793]|not provided [RCV000897140] Chr8:86726660 [GRCh38]
Chr8:87738888 [GRCh37]
Chr8:8q21.3		 benign|likely benign|uncertain significance
NM_019098.5(CNGB3):c.*778T>C single nucleotide variant Achromatopsia 3 [RCV000307150]|Severe early-childhood-onset retinal dystrophy [RCV000366427] Chr8:86575026 [GRCh38]
Chr8:87587254 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=) single nucleotide variant Achromatopsia 3 [RCV000328479]|Achromatopsia [RCV001828363]|Severe early-childhood-onset retinal dystrophy [RCV000383096]|not provided [RCV000980205] Chr8:86579219 [GRCh38]
Chr8:87591447 [GRCh37]
Chr8:8q21.3		 pathogenic|benign|likely benign|uncertain significance
NM_019098.5(CNGB3):c.*1371G>T single nucleotide variant Achromatopsia 3 [RCV000378267]|Severe early-childhood-onset retinal dystrophy [RCV000328305] Chr8:86574433 [GRCh38]
Chr8:87586661 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.494-11T>C single nucleotide variant Achromatopsia 3 [RCV000389093]|Severe early-childhood-onset retinal dystrophy [RCV000350722]|not provided [RCV001499322] Chr8:86668179 [GRCh38]
Chr8:87680407 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.4(CNGB3):c.-32T>C single nucleotide variant Achromatopsia 3 [RCV000290745]|Severe early-childhood-onset retinal dystrophy [RCV000382884] Chr8:86743659 [GRCh38]
Chr8:87755887 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.4(CNGB3):c.-36T>G single nucleotide variant Achromatopsia 3 [RCV000376943]|Severe early-childhood-onset retinal dystrophy [RCV000329394]|not provided [RCV001653741] Chr8:86743663 [GRCh38]
Chr8:87755891 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala) single nucleotide variant Achromatopsia 3 [RCV000397541]|Severe early-childhood-onset retinal dystrophy [RCV000309960]|not provided [RCV001090383] Chr8:86726538 [GRCh38]
Chr8:87738766 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*125G>C single nucleotide variant Achromatopsia 3 [RCV000310278]|Severe early-childhood-onset retinal dystrophy [RCV000398127] Chr8:86575679 [GRCh38]
Chr8:87587907 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.*389A>C single nucleotide variant Achromatopsia 3 [RCV000259273]|Severe early-childhood-onset retinal dystrophy [RCV000319178] Chr8:86575415 [GRCh38]
Chr8:87587643 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser) single nucleotide variant Achromatopsia 3 [RCV000277134]|Severe early-childhood-onset retinal dystrophy [RCV000332145]|not provided [RCV001239882] Chr8:86575986 [GRCh38]
Chr8:87588214 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.*1470G>C single nucleotide variant Achromatopsia 3 [RCV000313249]|Severe early-childhood-onset retinal dystrophy [RCV000276887] Chr8:86574334 [GRCh38]
Chr8:87586562 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*379T>G single nucleotide variant Achromatopsia 3 [RCV000374155]|Severe early-childhood-onset retinal dystrophy [RCV000293703] Chr8:86575425 [GRCh38]
Chr8:87587653 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu) single nucleotide variant Achromatopsia 3 [RCV000398277]|Severe early-childhood-onset retinal dystrophy [RCV000311516] Chr8:86626063 [GRCh38]
Chr8:87638291 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.4(CNGB3):c.*1638G>A single nucleotide variant Achromatopsia 3 [RCV000312215]|Severe early-childhood-onset retinal dystrophy [RCV000366928] Chr8:86574166 [GRCh38]
Chr8:87586394 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.4(CNGB3):c.*1639C>A single nucleotide variant Achromatopsia 3 [RCV000402102]|Severe early-childhood-onset retinal dystrophy [RCV000356615] Chr8:86574165 [GRCh38]
Chr8:87586393 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.212-6del deletion Achromatopsia [RCV000261330]|Stargardt Disease, Recessive [RCV000300242]|not provided [RCV000911760] Chr8:86726663 [GRCh38]
Chr8:87738891 [GRCh37]
Chr8:8q21.3		 benign|uncertain significance
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe) single nucleotide variant Achromatopsia 3 [RCV000356702]|Severe early-childhood-onset retinal dystrophy [RCV000261883]|not provided [RCV001034257] Chr8:86575926 [GRCh38]
Chr8:87588154 [GRCh37]
Chr8:8q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg) single nucleotide variant Achromatopsia 3 [RCV000277976]|Achromatopsia [RCV001272756]|Severe early-childhood-onset retinal dystrophy [RCV000325972]|not provided [RCV000900243] Chr8:86743585 [GRCh38]
Chr8:87755813 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr) single nucleotide variant Achromatopsia 3 [RCV000313538]|Achromatopsia [RCV001828365]|Severe early-childhood-onset retinal dystrophy [RCV000394090]|not provided [RCV001220465] Chr8:86667038 [GRCh38]
Chr8:87679266 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*1183T>C single nucleotide variant Achromatopsia 3 [RCV000335315]|Severe early-childhood-onset retinal dystrophy [RCV000375939] Chr8:86574621 [GRCh38]
Chr8:87586849 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys) single nucleotide variant Achromatopsia 3 [RCV000261965]|Achromatopsia [RCV001272490]|Severe early-childhood-onset retinal dystrophy [RCV000319376]|not provided [RCV000947120] Chr8:86668067 [GRCh38]
Chr8:87680295 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) single nucleotide variant Achromatopsia 3 [RCV000336568]|Achromatopsia [RCV001833481]|Severe early-childhood-onset retinal dystrophy [RCV000394987]|not provided [RCV000487572]|not specified [RCV001700999] Chr8:86626027 [GRCh38]
Chr8:87638255 [GRCh37]
Chr8:8q21.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly) single nucleotide variant Achromatopsia 3 [RCV000399992]|Achromatopsia [RCV001833480]|Severe early-childhood-onset retinal dystrophy [RCV000297206]|not provided [RCV000762525]|not specified [RCV000608300] Chr8:86575814 [GRCh38]
Chr8:87588042 [GRCh37]
Chr8:8q21.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.*909_*910del deletion Achromatopsia [RCV000393411]|Stargardt Disease, Recessive [RCV000315143] Chr8:86574894..86574895 [GRCh38]
Chr8:87587122..87587123 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.241G>A (p.Asp81Asn) single nucleotide variant Achromatopsia [RCV000339116]|Stargardt Disease, Recessive [RCV000397544]|not provided [RCV002523702] Chr8:86726628 [GRCh38]
Chr8:87738856 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*1303G>A single nucleotide variant Achromatopsia 3 [RCV000280351]|Severe early-childhood-onset retinal dystrophy [RCV000379480] Chr8:86574501 [GRCh38]
Chr8:87586729 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.*84C>T single nucleotide variant Achromatopsia 3 [RCV000399337]|Severe early-childhood-onset retinal dystrophy [RCV000340724] Chr8:86575720 [GRCh38]
Chr8:87587948 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*1093C>T single nucleotide variant Achromatopsia 3 [RCV000350006]|Severe early-childhood-onset retinal dystrophy [RCV000281044] Chr8:86574711 [GRCh38]
Chr8:87586939 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) single nucleotide variant Achromatopsia 3 [RCV001160803]|Achromatopsia [RCV001276130]|Severe early-childhood-onset retinal dystrophy [RCV001160802]|not provided [RCV000308981] Chr8:86626051 [GRCh38]
Chr8:87638279 [GRCh37]
Chr8:8q21.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.494-11dup duplication Achromatopsia [RCV000293509]|Stargardt Disease, Recessive [RCV000385627]|not provided [RCV000838381] Chr8:86668178..86668179 [GRCh38]
Chr8:87680406..87680407 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.2007A>G (p.Lys669=) single nucleotide variant not provided [RCV000280845] Chr8:86578785 [GRCh38]
Chr8:87591013 [GRCh37]
Chr8:8q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.*1368T>C single nucleotide variant Achromatopsia 3 [RCV000324660]|Severe early-childhood-onset retinal dystrophy [RCV000264854] Chr8:86574436 [GRCh38]
Chr8:87586664 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1833C>T (p.His611=) single nucleotide variant Achromatopsia 3 [RCV001164345]|Achromatopsia [RCV001272479]|Severe early-childhood-onset retinal dystrophy [RCV001164346]|not provided [RCV000259449] Chr8:86579201 [GRCh38]
Chr8:87591429 [GRCh37]
Chr8:8q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs) indel Achromatopsia 3 [RCV000497907]|CNGB3-Related Disorders [RCV000278041]|not provided [RCV000821438] Chr8:86654019..86654029 [GRCh38]
Chr8:87666247..87666257 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.474C>T (p.Pro158=) single nucleotide variant Achromatopsia [RCV001272750]|not provided [RCV000260872] Chr8:86670963 [GRCh38]
Chr8:87683191 [GRCh37]
Chr8:8q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.1433G>A (p.Arg478Gln) single nucleotide variant Inborn genetic diseases [RCV003278733]|not provided [RCV000295645] Chr8:86628966 [GRCh38]
Chr8:87641194 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.912C>T (p.Val304=) single nucleotide variant Achromatopsia 3 [RCV001159528]|Achromatopsia [RCV001828257]|Severe early-childhood-onset retinal dystrophy [RCV001159529]|not provided [RCV000892241]|not specified [RCV000401931] Chr8:86647879 [GRCh38]
Chr8:87660107 [GRCh37]
Chr8:8q21.3		 benign|likely benign|uncertain significance
NM_019098.5(CNGB3):c.*731C>T single nucleotide variant Achromatopsia 3 [RCV000357675]|Severe early-childhood-onset retinal dystrophy [RCV000267694] Chr8:86575073 [GRCh38]
Chr8:87587301 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.445_446insT (p.Lys149fs) insertion Achromatopsia 3 [RCV001270470] Chr8:86670991..86670992 [GRCh38]
Chr8:87683219..87683220 [GRCh37]
Chr8:8q21.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_019098.5(CNGB3):c.339-4415_673del deletion Inborn genetic diseases [RCV000623931] Chr8:86667104..86675513 [GRCh38]
Chr8:87679332..87687741 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr) single nucleotide variant Achromatopsia 3 [RCV000348660]|Severe early-childhood-onset retinal dystrophy [RCV000293482] Chr8:86667004 [GRCh38]
Chr8:87679232 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*206G>A single nucleotide variant Achromatopsia 3 [RCV000295002]|Severe early-childhood-onset retinal dystrophy [RCV000345303] Chr8:86575598 [GRCh38]
Chr8:87587826 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*798A>C single nucleotide variant Achromatopsia 3 [RCV000399193]|Severe early-childhood-onset retinal dystrophy [RCV000351306] Chr8:86575006 [GRCh38]
Chr8:87587234 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.4(CNGB3):c.*1701C>T single nucleotide variant Achromatopsia 3 [RCV000297130]|Severe early-childhood-onset retinal dystrophy [RCV000398362] Chr8:86574103 [GRCh38]
Chr8:87586331 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.4(CNGB3):c.*1881T>C single nucleotide variant Achromatopsia [RCV000272292]|Stargardt Disease, Recessive [RCV000327342] Chr8:86573923 [GRCh38]
Chr8:87586151 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys) single nucleotide variant Achromatopsia 3 [RCV000327065]|Achromatopsia [RCV001828364]|Severe early-childhood-onset retinal dystrophy [RCV000363049]|not provided [RCV001346392] Chr8:86643769 [GRCh38]
Chr8:87655997 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.843A>G (p.Gly281=) single nucleotide variant not provided [RCV000591974] Chr8:86666934 [GRCh38]
Chr8:87679162 [GRCh37]
Chr8:8q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe) single nucleotide variant Achromatopsia 3 [RCV000670705]|Achromatopsia [RCV000598180] Chr8:86579251 [GRCh38]
Chr8:87591479 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.767C>A (p.Ala256Glu) single nucleotide variant not provided [RCV000596023] Chr8:86667010 [GRCh38]
Chr8:87679238 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.221C>T (p.Ser74Phe) single nucleotide variant Achromatopsia [RCV001272754]|not provided [RCV000585434] Chr8:86726648 [GRCh38]
Chr8:87738876 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.163dup (p.Thr55fs) duplication Achromatopsia 3 [RCV000409138] Chr8:86739702..86739703 [GRCh38]
Chr8:87751930..87751931 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.556_559del (p.Arg186fs) deletion Achromatopsia 3 [RCV000409215] Chr8:86668103..86668106 [GRCh38]
Chr8:87680331..87680334 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.412del (p.Arg138fs) deletion Achromatopsia 3 [RCV000409440]|not provided [RCV001861379] Chr8:86671025 [GRCh38]
Chr8:87683253 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.852+55C>T single nucleotide variant Achromatopsia 3 [RCV001543743]|not provided [RCV001713000] Chr8:86666870 [GRCh38]
Chr8:87679098 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.1937del (p.Leu645_Leu646insTer) deletion Achromatopsia 3 [RCV000409769]|not provided [RCV002524616] Chr8:86578855 [GRCh38]
Chr8:87591083 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1579-1G>A single nucleotide variant Achromatopsia 3 [RCV000409806]|Achromatopsia [RCV001199471]|not provided [RCV001092878] Chr8:86611672 [GRCh38]
Chr8:87623900 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.1908del (p.Ile637fs) deletion Achromatopsia 3 [RCV000410311]|not provided [RCV001861370] Chr8:86579126 [GRCh38]
Chr8:87591354 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1889A>C (p.His630Pro) single nucleotide variant Inborn genetic diseases [RCV003278796]|not provided [RCV000415895] Chr8:86579145 [GRCh38]
Chr8:87591373 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1366del (p.Arg456fs) deletion Achromatopsia 3 [RCV000410652]|not provided [RCV001865267] Chr8:86629033 [GRCh38]
Chr8:87641261 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.1929-2A>G single nucleotide variant Achromatopsia 3 [RCV000410908] Chr8:86578865 [GRCh38]
Chr8:87591093 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1928+2T>C single nucleotide variant Achromatopsia 3 [RCV000411120] Chr8:86579104 [GRCh38]
Chr8:87591332 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.567del (p.Trp189fs) deletion Achromatopsia 3 [RCV000411187] Chr8:86668095 [GRCh38]
Chr8:87680323 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.4(CNGB3):c.(990+1_991-1)_(1178+1_1179-1)del deletion Retinal dystrophy [RCV000416312] Chr8:8q21.3 likely pathogenic
NM_019098.5(CNGB3):c.1198T>C (p.Trp400Arg) single nucleotide variant Inborn genetic diseases [RCV002532419]|not provided [RCV000594568] Chr8:86632874 [GRCh38]
Chr8:87645102 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.11C>A (p.Ser4Ter) single nucleotide variant Achromatopsia 3 [RCV000411455]|not provided [RCV001865256] Chr8:86743617 [GRCh38]
Chr8:87755845 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.220_221del (p.Ser74fs) microsatellite Achromatopsia 3 [RCV000411501]|not provided [RCV003698786] Chr8:86726648..86726649 [GRCh38]
Chr8:87738876..87738877 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1260del (p.Ile420fs) deletion Achromatopsia 3 [RCV000411676]|not provided [RCV003766129] Chr8:86632812 [GRCh38]
Chr8:87645040 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.446_447insT (p.Lys149fs) insertion Achromatopsia 3 [RCV000411864]|not provided [RCV001038514] Chr8:86670990..86670991 [GRCh38]
Chr8:87683218..87683219 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1480+1G>A single nucleotide variant Achromatopsia 3 [RCV000412081]|not provided [RCV001723969] Chr8:86628918 [GRCh38]
Chr8:87641146 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.1098_1101dup (p.Ala368Ter) duplication not provided [RCV000412821] Chr8:86643827..86643828 [GRCh38]
Chr8:87656055..87656056 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1179-2A>T single nucleotide variant Achromatopsia 3 [RCV000412299]|not provided [RCV001543496] Chr8:86632895 [GRCh38]
Chr8:87645123 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) deletion Achromatopsia 3 [RCV000498183]|Achromatopsia [RCV000592388]|Leber congenital amaurosis [RCV000504685]|Nystagmus [RCV000415035]|Retinal dystrophy [RCV001074298]|not provided [RCV000727187] Chr8:86666951..86666958 [GRCh38]
Chr8:87679179..87679186 [GRCh37]
Chr8:8q21.3		 pathogenic
GRCh37/hg19 8q21.3(chr8:87660100-88885305)x3 copy number gain See cases [RCV000446502] Chr8:87660100..88885305 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter) single nucleotide variant Abnormality of the eye [RCV000504783]|Achromatopsia 3 [RCV000988076]|Achromatopsia [RCV001834626]|not provided [RCV001222784] Chr8:86579224 [GRCh38]
Chr8:87591452 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) single nucleotide variant Achromatopsia 3 [RCV000764781]|Achromatopsia [RCV001276131]|CNGB3-related condition [RCV003925408]|not provided [RCV000480707] Chr8:86626069 [GRCh38]
Chr8:87638297 [GRCh37]
Chr8:8q21.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.1662+1G>A single nucleotide variant not provided [RCV000485915] Chr8:86611587 [GRCh38]
Chr8:87623815 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1781+1G>C single nucleotide variant Achromatopsia 3 [RCV000497312]|Retinal dystrophy [RCV001073367]|not provided [RCV001383605] Chr8:86604092 [GRCh38]
Chr8:87616320 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs) indel Achromatopsia 3 [RCV000497318] Chr8:86626027 [GRCh38]
Chr8:87638255 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val) single nucleotide variant Achromatopsia 3 [RCV000497341]|Achromatopsia [RCV000595133] Chr8:86604201 [GRCh38]
Chr8:87616429 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter) single nucleotide variant Achromatopsia 3 [RCV000497367]|not provided [RCV002523427] Chr8:86628973 [GRCh38]
Chr8:87641201 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His) single nucleotide variant Achromatopsia 3 [RCV000497376]|Achromatopsia [RCV001275882]|not provided [RCV001066881] Chr8:86578689 [GRCh38]
Chr8:87590917 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.95dup (p.His32fs) duplication Achromatopsia 3 [RCV000497377] Chr8:86743532..86743533 [GRCh38]
Chr8:87755760..87755761 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs) duplication Achromatopsia 3 [RCV000497416]|Achromatopsia [RCV001834594]|not provided [RCV001386013] Chr8:86632786..86632787 [GRCh38]
Chr8:87645014..87645015 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs) indel Achromatopsia 3 [RCV000497434] Chr8:86628968..86628969 [GRCh38]
Chr8:87641196..87641197 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del deletion Achromatopsia 3 [RCV000497453]   pathogenic
NM_019098.5(CNGB3):c.281_284del (p.Pro94fs) deletion Achromatopsia 3 [RCV000497501]|not provided [RCV001851324] Chr8:86726585..86726588 [GRCh38]
Chr8:87738813..87738816 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1635T>A (p.Tyr545Ter) single nucleotide variant Achromatopsia 3 [RCV000497503] Chr8:86611615 [GRCh38]
Chr8:87623843 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1663-5T>G single nucleotide variant Achromatopsia 3 [RCV000497512]|not provided [RCV001856921] Chr8:86604216 [GRCh38]
Chr8:87616444 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.682dup (p.Ala228fs) duplication Achromatopsia 3 [RCV000497518]|not provided [RCV001851325] Chr8:86667094..86667095 [GRCh38]
Chr8:87679322..87679323 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.494-2A>T single nucleotide variant Achromatopsia 3 [RCV000497528] Chr8:86668170 [GRCh38]
Chr8:87680398 [GRCh37]
Chr8:8q21.3		 pathogenic
NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770] insertion Achromatopsia 3 [RCV000497553] Chr8:86711345..86711346 [GRCh38]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1056-3C>G single nucleotide variant Achromatopsia 3 [RCV000497560] Chr8:86643876 [GRCh38]
Chr8:87656104 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.4(CNGB3):c.904-2824_1782-8208delins[KY923049.1:g.1_466] indel Achromatopsia 3 [RCV000497589] Chr8:86587460..86650711 [GRCh38]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.756C>G (p.Tyr252Ter) single nucleotide variant Achromatopsia 3 [RCV000497616]|not provided [RCV002523426] Chr8:86667021 [GRCh38]
Chr8:87679249 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.852+1G>C single nucleotide variant Achromatopsia 3 [RCV000497635]|not provided [RCV001210019] Chr8:86666924 [GRCh38]
Chr8:87679152 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2221del (p.Asp741fs) deletion Achromatopsia 3 [RCV000497669]|not provided [RCV002526058] Chr8:86576013 [GRCh38]
Chr8:87588241 [GRCh37]
Chr8:8q21.3		 pathogenic|uncertain significance
NM_019098.5(CNGB3):c.791_794del (p.Tyr264fs) deletion Achromatopsia 3 [RCV000497672] Chr8:86666983..86666986 [GRCh38]
Chr8:87679211..87679214 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.3G>A (p.Met1Ile) single nucleotide variant Achromatopsia 3 [RCV000497678]|not provided [RCV001851326] Chr8:86743625 [GRCh38]
Chr8:87755853 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.265C>T (p.Gln89Ter) single nucleotide variant Achromatopsia 3 [RCV000497694] Chr8:86726604 [GRCh38]
Chr8:87738832 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) single nucleotide variant Achromatopsia 3 [RCV000497762]|Achromatopsia [RCV001829406]|not provided [RCV001216532] Chr8:86643866 [GRCh38]
Chr8:87656094 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del) deletion Achromatopsia 3 [RCV000497792]|Achromatopsia [RCV001199470] Chr8:86632880..86632882 [GRCh38]
Chr8:87645108..87645110 [GRCh37]
Chr8:8q21.3		 pathogenic|uncertain significance
NM_019098.5(CNGB3):c.29dup (p.Val11fs) duplication Achromatopsia 3 [RCV000497809]|not provided [RCV001380987] Chr8:86743598..86743599 [GRCh38]
Chr8:87755826..87755827 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.806T>C (p.Leu269Pro) single nucleotide variant Achromatopsia 3 [RCV000497819]|not provided [RCV001379169] Chr8:86666971 [GRCh38]
Chr8:87679199 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1781+1del deletion Achromatopsia 3 [RCV000497830]|Achromatopsia [RCV001834595]|not provided [RCV001046928] Chr8:86604092 [GRCh38]
Chr8:87616320 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1243C>T (p.Gln415Ter) single nucleotide variant Achromatopsia 3 [RCV000497880] Chr8:86632829 [GRCh38]
Chr8:87645057 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1299_1300del (p.Phe434fs) microsatellite Achromatopsia 3 [RCV000497919] Chr8:86632772..86632773 [GRCh38]
Chr8:87645000..87645001 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1782-3723_2103+739del deletion Achromatopsia 3 [RCV000497920] Chr8:86577950..86582975 [GRCh38]
Chr8:87590178..87595203 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1579-2A>G single nucleotide variant Achromatopsia 3 [RCV000497923]|Retinal dystrophy [RCV001074857] Chr8:86611673 [GRCh38]
Chr8:87623901 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs) indel Achromatopsia 3 [RCV000497959] Chr8:86671043..86671044 [GRCh38]
Chr8:87683271..87683272 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1493del (p.Leu498fs) deletion Achromatopsia 3 [RCV000497969]|not provided [RCV001856916] Chr8:86626068 [GRCh38]
Chr8:87638296 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.212-2527_338+2854del deletion Achromatopsia 3 [RCV000497979] Chr8:86723677..86729184 [GRCh38]
Chr8:87735905..87741412 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.129+2T>C single nucleotide variant Achromatopsia 3 [RCV000498029] Chr8:86743497 [GRCh38]
Chr8:87755725 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.301C>T (p.Gln101Ter) single nucleotide variant Achromatopsia 3 [RCV000498036] Chr8:86726568 [GRCh38]
Chr8:87738796 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.643+2T>C single nucleotide variant Achromatopsia 3 [RCV000498049] Chr8:86668017 [GRCh38]
Chr8:87680245 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1782-2A>C single nucleotide variant Achromatopsia 3 [RCV000498067]|not provided [RCV001856922] Chr8:86579254 [GRCh38]
Chr8:87591482 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1566_1569dup (p.Leu524fs) duplication Achromatopsia 3 [RCV000498088] Chr8:86625991..86625992 [GRCh38]
Chr8:87638219..87638220 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1751T>C (p.Leu584Pro) single nucleotide variant Achromatopsia 3 [RCV000498094] Chr8:86604123 [GRCh38]
Chr8:87616351 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter) single nucleotide variant Achromatopsia 3 [RCV000498120]|Achromatopsia [RCV000787572]|Retinal dystrophy [RCV001073613]|not provided [RCV001386012] Chr8:86628967 [GRCh38]
Chr8:87641195 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.190del (p.Glu64fs) deletion Achromatopsia 3 [RCV000498146] Chr8:86739676 [GRCh38]
Chr8:87751904 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.882C>G (p.Tyr294Ter) single nucleotide variant Achromatopsia 3 [RCV000498173] Chr8:86654033 [GRCh38]
Chr8:87666261 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.904-2A>T single nucleotide variant Achromatopsia 3 [RCV000498192]|not provided [RCV001856920] Chr8:86647889 [GRCh38]
Chr8:87660117 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.2359del (p.Ser787fs) deletion Achromatopsia 3 [RCV000498194] Chr8:86575875 [GRCh38]
Chr8:87588103 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del deletion Achromatopsia 3 [RCV000498212]   pathogenic
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) single nucleotide variant Achromatopsia 3 [RCV000498220]|Achromatopsia [RCV001002981]|not provided [RCV000815424] Chr8:86670970 [GRCh38]
Chr8:87683198 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter) duplication Achromatopsia 3 [RCV000498224]|not provided [RCV003558395] Chr8:86644671..86644672 [GRCh38]
Chr8:87656899..87656900 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.4(CNGB3):c.702_706delinsGTTTTT (p.Cys234fs) indel Achromatopsia 3 [RCV000498260] Chr8:86667071..86667075 [GRCh38]
Chr8:87679299..87679303 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1056-2A>G single nucleotide variant Achromatopsia 3 [RCV000498297] Chr8:86643875 [GRCh38]
Chr8:87656103 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del deletion Achromatopsia 3 [RCV000498326]   pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.926C>T (p.Pro309Leu) single nucleotide variant Achromatopsia 3 [RCV000498361] Chr8:86647865 [GRCh38]
Chr8:87660093 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1397T>A (p.Met466Lys) single nucleotide variant Achromatopsia 3 [RCV000498368] Chr8:86629002 [GRCh38]
Chr8:87641230 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1823T>A (p.Val608Glu) single nucleotide variant Achromatopsia 3 [RCV000498407] Chr8:86579211 [GRCh38]
Chr8:87591439 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1460G>A (p.Trp487Ter) single nucleotide variant Achromatopsia 3 [RCV000498438] Chr8:86628939 [GRCh38]
Chr8:87641167 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1781+1G>A single nucleotide variant Achromatopsia 3 [RCV000498488] Chr8:86604092 [GRCh38]
Chr8:87616320 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1447T>G (p.Tyr483Asp) single nucleotide variant Achromatopsia 3 [RCV000498512]|not provided [RCV001856918] Chr8:86628952 [GRCh38]
Chr8:87641180 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.31dup (p.Val11fs) duplication Achromatopsia 3 [RCV000498531] Chr8:86743596..86743597 [GRCh38]
Chr8:87755824..87755825 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter) single nucleotide variant Achromatopsia 3 [RCV000498538]|not provided [RCV000726742] Chr8:86632817 [GRCh38]
Chr8:87645045 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1285del (p.Ser429fs) deletion Abnormality of the eye [RCV000504627]|Achromatopsia 3 [RCV000498570]|not provided [RCV002523425] Chr8:86632787 [GRCh38]
Chr8:87645015 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.2103+1G>A single nucleotide variant Achromatopsia 3 [RCV000498602]|Macular dystrophy [RCV000505012]|not provided [RCV002526060] Chr8:86578688 [GRCh38]
Chr8:87590916 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs) indel Achromatopsia 3 [RCV000498622] Chr8:86667071 [GRCh38]
Chr8:87679299 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1815del (p.Ala606fs) deletion Achromatopsia 3 [RCV000498634]|not provided [RCV001856917] Chr8:86579219 [GRCh38]
Chr8:87591447 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) single nucleotide variant Achromatopsia 3 [RCV000498642]|not provided [RCV002526059] Chr8:86743626 [GRCh38]
Chr8:87755854 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter) single nucleotide variant Achromatopsia 3 [RCV000498655]|not provided [RCV001856919] Chr8:86739658 [GRCh38]
Chr8:87751886 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.257del (p.Pro86fs) deletion Achromatopsia 3 [RCV000498659]|not provided [RCV001865520] Chr8:86726612 [GRCh38]
Chr8:87738840 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1516del (p.Val506fs) deletion Achromatopsia 3 [RCV000498684]|not provided [RCV003558396] Chr8:86626045 [GRCh38]
Chr8:87638273 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.589_590del (p.Leu197fs) deletion Achromatopsia 3 [RCV000498700] Chr8:86668072..86668073 [GRCh38]
Chr8:87680300..87680301 [GRCh37]
Chr8:8q21.3		 pathogenic
NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978] insertion Achromatopsia 3 [RCV000498740] Chr8:86688947..86688948 [GRCh38]
Chr8:8q21.3		 pathogenic
NM_019098.4(CNGB3):c.852+4013_903+1698dup duplication Achromatopsia 3 [RCV000498744] Chr8:86652314..86662912 [GRCh38]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.130-1G>T single nucleotide variant Achromatopsia 3 [RCV000498778]|not provided [RCV002527045] Chr8:86739737 [GRCh38]
Chr8:87751965 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs) indel Achromatopsia 3 [RCV000498794] Chr8:86654042 [GRCh38]
Chr8:87666270 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1320+4A>G single nucleotide variant Achromatopsia 3 [RCV000498797]|not provided [RCV001379168] Chr8:86632748 [GRCh38]
Chr8:87644976 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|uncertain significance
NM_019098.5(CNGB3):c.702T>A (p.Cys234Ter) single nucleotide variant Achromatopsia 3 [RCV000498829] Chr8:86667075 [GRCh38]
Chr8:87679303 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.643G>C (p.Asp215His) single nucleotide variant Achromatopsia 3 [RCV000498841] Chr8:86668019 [GRCh38]
Chr8:87680247 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1663-2660_1781+5516del deletion Achromatopsia 3 [RCV000498844] Chr8:86598577..86606871 [GRCh38]
Chr8:87610805..87619099 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1578+1G>T single nucleotide variant Achromatopsia 3 [RCV000498971]|Achromatopsia [RCV001829407]|not provided [RCV001216527] Chr8:86625982 [GRCh38]
Chr8:87638210 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter) single nucleotide variant Achromatopsia 3 [RCV000498976] Chr8:86632878 [GRCh38]
Chr8:87645106 [GRCh37]
Chr8:8q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_019098.5(CNGB3):c.11C>T (p.Ser4Leu) single nucleotide variant not provided [RCV000585008] Chr8:86743617 [GRCh38]
Chr8:87755845 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
NM_019098.5(CNGB3):c.414A>T (p.Arg138Ser) single nucleotide variant not provided [RCV000513303] Chr8:86671023 [GRCh38]
Chr8:87683251 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2410A>T (p.Lys804Ter) single nucleotide variant Achromatopsia [RCV001275878]|not provided [RCV000627268] Chr8:86575824 [GRCh38]
Chr8:87588052 [GRCh37]
Chr8:8q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.1578+2C>G single nucleotide variant Achromatopsia 3 [RCV000673053] Chr8:86625981 [GRCh38]
Chr8:87638209 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.2008G>T (p.Glu670Ter) single nucleotide variant Achromatopsia 3 [RCV000673243]|not provided [RCV003688876] Chr8:86578784 [GRCh38]
Chr8:87591012 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1774dup (p.Glu592fs) duplication Achromatopsia 3 [RCV000673293]|not provided [RCV003558523] Chr8:86604099..86604100 [GRCh38]
Chr8:87616327..87616328 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.203A>G (p.Asn68Ser) single nucleotide variant not provided [RCV000659108] Chr8:86739663 [GRCh38]
Chr8:87751891 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) duplication Achromatopsia 3 [RCV000671490]|not provided [RCV002531286] Chr8:86575929..86575930 [GRCh38]
Chr8:87588157..87588158 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.74G>A (p.Arg25His) single nucleotide variant Achromatopsia [RCV001828702]|not provided [RCV001213369] Chr8:86743554 [GRCh38]
Chr8:87755782 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1481-2A>C single nucleotide variant Achromatopsia 3 [RCV000668523] Chr8:86626082 [GRCh38]
Chr8:87638310 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.445_447delinsT (p.Lys149fs) indel Achromatopsia 3 [RCV000672942] Chr8:86670990..86670992 [GRCh38]
Chr8:87683218..87683220 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.2101C>T (p.Gln701Ter) single nucleotide variant Achromatopsia 3 [RCV000670727] Chr8:86578691 [GRCh38]
Chr8:87590919 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2383G>A (p.Gly795Arg) single nucleotide variant Achromatopsia 3 [RCV000670701]|Achromatopsia [RCV001830448]|not provided [RCV001245682] Chr8:86575851 [GRCh38]
Chr8:87588079 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3(chr8:87664244-87672457)x1 copy number loss not provided [RCV000747697] Chr8:87664244..87672457 [GRCh37]
Chr8:8q21.3		 benign
GRCh37/hg19 8q21.3(chr8:87671396-87672457)x1 copy number loss not provided [RCV000747698] Chr8:87671396..87672457 [GRCh37]
Chr8:8q21.3		 benign
GRCh37/hg19 8q21.3(chr8:87671396-87673633)x1 copy number loss not provided [RCV000747699] Chr8:87671396..87673633 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.2217T>C (p.Asp739=) single nucleotide variant Achromatopsia [RCV001832156]|not provided [RCV000941286] Chr8:86576017 [GRCh38]
Chr8:87588245 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1065A>G (p.Arg355=) single nucleotide variant not provided [RCV000978255] Chr8:86643864 [GRCh38]
Chr8:87656092 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1578+8C>T single nucleotide variant not provided [RCV000977407] Chr8:86625975 [GRCh38]
Chr8:87638203 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2313_2315del (p.Arg772del) deletion Achromatopsia 3 [RCV001559264]|Achromatopsia [RCV001825510]|not provided [RCV000762526] Chr8:86575919..86575921 [GRCh38]
Chr8:87588147..87588149 [GRCh37]
Chr8:8q21.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) microsatellite Achromatopsia 3 [RCV001810484]|Achromatopsia [RCV001275881]|Severe early-childhood-onset retinal dystrophy [RCV001029857]|not provided [RCV000762527]|not specified [RCV003987697] Chr8:86576035..86576055 [GRCh38]
Chr8:87588263..87588283 [GRCh37]
Chr8:8q21.3		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn) single nucleotide variant Achromatopsia 3 [RCV001162610]|Severe early-childhood-onset retinal dystrophy [RCV001162611]|not provided [RCV001057922] Chr8:86739698 [GRCh38]
Chr8:87751926 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.717C>T (p.Arg239=) single nucleotide variant not provided [RCV000981908] Chr8:86667060 [GRCh38]
Chr8:87679288 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1383C>T (p.Asp461=) single nucleotide variant Achromatopsia [RCV001272483]|not provided [RCV000914521] Chr8:86629016 [GRCh38]
Chr8:87641244 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.900T>C (p.Phe300=) single nucleotide variant not provided [RCV000928091] Chr8:86654015 [GRCh38]
Chr8:87666243 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1732A>T (p.Thr578Ser) single nucleotide variant Achromatopsia [RCV001276128]|not provided [RCV000947119] Chr8:86604142 [GRCh38]
Chr8:87616370 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1179-6T>C single nucleotide variant Achromatopsia [RCV001825820]|CNGB3-related condition [RCV003912923]|not provided [RCV000904663] Chr8:86632899 [GRCh38]
Chr8:87645127 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.1020C>T (p.His340=) single nucleotide variant not provided [RCV000983239] Chr8:86644657 [GRCh38]
Chr8:87656885 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=) single nucleotide variant Achromatopsia 3 [RCV001162415]|Achromatopsia [RCV001272740]|Severe early-childhood-onset retinal dystrophy [RCV001162416]|not provided [RCV000926379] Chr8:86629031 [GRCh38]
Chr8:87641259 [GRCh37]
Chr8:8q21.3		 benign|likely benign|uncertain significance
NM_019098.5(CNGB3):c.811A>G (p.Ile271Val) single nucleotide variant not provided [RCV001044055] Chr8:86666966 [GRCh38]
Chr8:87679194 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.450G>T (p.Leu150Phe) single nucleotide variant Achromatopsia [RCV001272751]|not provided [RCV001033961] Chr8:86670987 [GRCh38]
Chr8:87683215 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1369G>A (p.Ala457Thr) single nucleotide variant Achromatopsia [RCV001272739]|not provided [RCV001034154] Chr8:86629030 [GRCh38]
Chr8:87641258 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1706_1707del (p.Val569fs) deletion not provided [RCV001040004] Chr8:86604167..86604168 [GRCh38]
Chr8:87616395..87616396 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1744G>C (p.Val582Leu) single nucleotide variant not provided [RCV001044860] Chr8:86604130 [GRCh38]
Chr8:87616358 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.768G>A (p.Ala256=) single nucleotide variant Achromatopsia [RCV001832432]|not provided [RCV001045301] Chr8:86667009 [GRCh38]
Chr8:87679237 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.419G>A (p.Arg140His) single nucleotide variant Achromatopsia [RCV001272752]|not provided [RCV001068381] Chr8:86671018 [GRCh38]
Chr8:87683246 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1373G>A (p.Cys458Tyr) single nucleotide variant not provided [RCV001069010] Chr8:86629026 [GRCh38]
Chr8:87641254 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1367G>A (p.Arg456His) single nucleotide variant Achromatopsia [RCV001272484]|not provided [RCV001061978] Chr8:86629032 [GRCh38]
Chr8:87641260 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.129G>C (p.Gln43His) single nucleotide variant Achromatopsia [RCV001833683]|Retinal dystrophy [RCV001073578]|not provided [RCV001322107] Chr8:86743499 [GRCh38]
Chr8:87755727 [GRCh37]
Chr8:8q21.3		 uncertain significance
NC_000008.11:g.(?_86654002)_(86654072_?)dup duplication not provided [RCV001032036] Chr8:87666230..87666300 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2107A>G (p.Lys703Glu) single nucleotide variant Achromatopsia [RCV001827259]|not provided [RCV001043004] Chr8:86576127 [GRCh38]
Chr8:87588355 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1197T>G (p.Tyr399Ter) single nucleotide variant Retinal dystrophy [RCV001075138]|not provided [RCV002554744] Chr8:86632875 [GRCh38]
Chr8:87645103 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del deletion Achromatopsia [RCV000787752]   likely pathogenic
NM_019098.5(CNGB3):c.1936T>C (p.Leu646=) single nucleotide variant Achromatopsia [RCV001276126]|not provided [RCV000923856] Chr8:86578856 [GRCh38]
Chr8:87591084 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2130G>A (p.Glu710=) single nucleotide variant Achromatopsia [RCV001276125]|not provided [RCV000968130] Chr8:86576104 [GRCh38]
Chr8:87588332 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.720C>T (p.Leu240=) single nucleotide variant Achromatopsia 3 [RCV001162523]|Achromatopsia [RCV001279841]|Severe early-childhood-onset retinal dystrophy [RCV001162524]|not provided [RCV000941658] Chr8:86667057 [GRCh38]
Chr8:87679285 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.459A>C (p.Gly153=) single nucleotide variant Achromatopsia [RCV001832164]|not provided [RCV000942214] Chr8:86670978 [GRCh38]
Chr8:87683206 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2004G>A (p.Pro668=) single nucleotide variant not provided [RCV000942790] Chr8:86578788 [GRCh38]
Chr8:87591016 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) single nucleotide variant Achromatopsia 3 [RCV001161028]|Achromatopsia [RCV001272753]|Severe early-childhood-onset retinal dystrophy [RCV001161029]|not provided [RCV000905932] Chr8:86726550 [GRCh38]
Chr8:87738778 [GRCh37]
Chr8:8q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.1542G>C (p.Val514=) single nucleotide variant not provided [RCV000978007] Chr8:86626019 [GRCh38]
Chr8:87638247 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1178+9T>C single nucleotide variant Achromatopsia 3 [RCV001164461]|Achromatopsia [RCV001272742]|Severe early-childhood-onset retinal dystrophy [RCV001164462]|not provided [RCV000970399] Chr8:86643742 [GRCh38]
Chr8:87655970 [GRCh37]
Chr8:8q21.3		 benign|uncertain significance
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) single nucleotide variant Achromatopsia 3 [RCV001159426]|Achromatopsia [RCV001272482]|Severe early-childhood-onset retinal dystrophy [RCV001159425]|not provided [RCV000973424] Chr8:86611624 [GRCh38]
Chr8:87623852 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.1929-1G>A single nucleotide variant Achromatopsia 3 [RCV002507388]|Achromatopsia [RCV001830725]|not provided [RCV000801505] Chr8:86578864 [GRCh38]
Chr8:87591092 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.2085del (p.Lys695fs) deletion Achromatopsia 3 [RCV001784457]|not provided [RCV000824470] Chr8:86578707 [GRCh38]
Chr8:87590935 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NC_000008.11:g.86668179dup duplication not provided [RCV000838381] Chr8:8q21.3 benign
NM_019098.5(CNGB3):c.852+1G>T single nucleotide variant Achromatopsia 3 [RCV000988078]|not provided [RCV001858684] Chr8:86666924 [GRCh38]
Chr8:87679152 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1216_1219del (p.Ile406fs) deletion not provided [RCV000821902] Chr8:86632853..86632856 [GRCh38]
Chr8:87645081..87645084 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.*737T>C single nucleotide variant Achromatopsia 3 [RCV001164146]|Severe early-childhood-onset retinal dystrophy [RCV001164147] Chr8:86575067 [GRCh38]
Chr8:87587295 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.715C>A (p.Arg239Ser) single nucleotide variant Achromatopsia [RCV001827148]|not provided [RCV000999049] Chr8:86667062 [GRCh38]
Chr8:87679290 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*1476T>A single nucleotide variant Achromatopsia 3 [RCV001164045]|Severe early-childhood-onset retinal dystrophy [RCV001164044] Chr8:86574328 [GRCh38]
Chr8:87586556 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*108C>T single nucleotide variant Achromatopsia 3 [RCV001164238]|Severe early-childhood-onset retinal dystrophy [RCV001164237] Chr8:86575696 [GRCh38]
Chr8:87587924 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.260A>G (p.Asp87Gly) single nucleotide variant Achromatopsia [RCV001832492]|Inborn genetic diseases [RCV002553340]|not provided [RCV001054277] Chr8:86726609 [GRCh38]
Chr8:87738837 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1488T>G (p.Ser496=) single nucleotide variant not provided [RCV000940974] Chr8:86626073 [GRCh38]
Chr8:87638301 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1149T>C (p.Thr383=) single nucleotide variant Achromatopsia [RCV001272744]|not provided [RCV000941399] Chr8:86643780 [GRCh38]
Chr8:87656008 [GRCh37]
Chr8:8q21.3		 likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln) single nucleotide variant Achromatopsia 3 [RCV001162314]|Achromatopsia [RCV001828576]|Inborn genetic diseases [RCV003353182]|Severe early-childhood-onset retinal dystrophy [RCV001162315]|not provided [RCV001247986] Chr8:86578705 [GRCh38]
Chr8:87590933 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn) single nucleotide variant Achromatopsia 3 [RCV001164560]|Severe early-childhood-onset retinal dystrophy [RCV001162525]|not provided [RCV002558550] Chr8:86667100 [GRCh38]
Chr8:87679328 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1126A>G (p.Asn376Asp) single nucleotide variant Achromatopsia [RCV001829965]|not provided [RCV001245736] Chr8:86643803 [GRCh38]
Chr8:87656031 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*997A>G single nucleotide variant Achromatopsia 3 [RCV001162126]|Severe early-childhood-onset retinal dystrophy [RCV001162127] Chr8:86574807 [GRCh38]
Chr8:87587035 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.441G>T (p.Lys147Asn) single nucleotide variant Achromatopsia [RCV001833988]|not provided [RCV001230020] Chr8:86670996 [GRCh38]
Chr8:87683224 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1477C>A (p.Leu493Ile) single nucleotide variant not provided [RCV001209132] Chr8:86628922 [GRCh38]
Chr8:87641150 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2285C>T (p.Ala762Val) single nucleotide variant not provided [RCV001208531] Chr8:86575949 [GRCh38]
Chr8:87588177 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1056-2A>C single nucleotide variant not provided [RCV001240443] Chr8:86643875 [GRCh38]
Chr8:87656103 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1048A>C (p.Ile350Leu) single nucleotide variant not provided [RCV001214323] Chr8:86644629 [GRCh38]
Chr8:87656857 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.475G>A (p.Glu159Lys) single nucleotide variant Achromatopsia [RCV001834100]|not provided [RCV001239685] Chr8:86670962 [GRCh38]
Chr8:87683190 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1806C>A (p.Asn602Lys) single nucleotide variant not provided [RCV001237571] Chr8:86579228 [GRCh38]
Chr8:87591456 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.553T>C (p.Tyr185His) single nucleotide variant not provided [RCV001227476] Chr8:86668109 [GRCh38]
Chr8:87680337 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.212-1G>C single nucleotide variant not provided [RCV001222080] Chr8:86726658 [GRCh38]
Chr8:87738886 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1805A>T (p.Asn602Ile) single nucleotide variant not provided [RCV001226197] Chr8:86579229 [GRCh38]
Chr8:87591457 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1829C>T (p.Ala610Val) single nucleotide variant Achromatopsia [RCV001835326]|not provided [RCV001248206] Chr8:86579205 [GRCh38]
Chr8:87591433 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_019098.5(CNGB3):c.2328del (p.Arg777fs) deletion Achromatopsia [RCV001002976]|not provided [RCV000999048] Chr8:86575906 [GRCh38]
Chr8:87588134 [GRCh37]
Chr8:8q21.3		 pathogenic|uncertain significance
NM_019098.5(CNGB3):c.-1G>A single nucleotide variant Achromatopsia 3 [RCV001164672]|Severe early-childhood-onset retinal dystrophy [RCV001164671] Chr8:86743628 [GRCh38]
Chr8:87755856 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1698T>A (p.His566Gln) single nucleotide variant not provided [RCV001247578] Chr8:86604176 [GRCh38]
Chr8:87616404 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
GRCh37/hg19 8q21.13-21.3(chr8:84358585-89159915)x1 copy number loss not provided [RCV000845762] Chr8:84358585..89159915 [GRCh37]
Chr8:8q21.13-21.3		 uncertain significance
NM_019098.5(CNGB3):c.1245_1246del (p.Gln415fs) deletion not provided [RCV001008573] Chr8:86632826..86632827 [GRCh38]
Chr8:87645054..87645055 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.*1218C>T single nucleotide variant Achromatopsia 3 [RCV001160493]|Severe early-childhood-onset retinal dystrophy [RCV001160492] Chr8:86574586 [GRCh38]
Chr8:87586814 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*1143T>C single nucleotide variant Achromatopsia 3 [RCV001160494]|Severe early-childhood-onset retinal dystrophy [RCV001160495] Chr8:86574661 [GRCh38]
Chr8:87586889 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1999C>A (p.Pro667Thr) single nucleotide variant not provided [RCV003104814] Chr8:86578793 [GRCh38]
Chr8:87591021 [GRCh37]
Chr8:8q21.3		 uncertain significance
NC_000008.11:g.86743736A>G single nucleotide variant not provided [RCV001568458] Chr8:86743736 [GRCh38]
Chr8:87755964 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1481-145A>C single nucleotide variant Achromatopsia 3 [RCV001543741] Chr8:86626225 [GRCh38]
Chr8:87638453 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.1782-95A>C single nucleotide variant not provided [RCV001577381] Chr8:86579347 [GRCh38]
Chr8:87591575 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.211+33_211+34del deletion not provided [RCV001678305] Chr8:86739621..86739622 [GRCh38]
Chr8:87751849..87751850 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.1320+56G>A single nucleotide variant not provided [RCV001717610] Chr8:86632696 [GRCh38]
Chr8:87644924 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.211+100T>G single nucleotide variant not provided [RCV001656433] Chr8:86739555 [GRCh38]
Chr8:87751783 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.2103+67C>T single nucleotide variant not provided [RCV001716551] Chr8:86578622 [GRCh38]
Chr8:87590850 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.1179-78A>T single nucleotide variant not provided [RCV001676821] Chr8:86632971 [GRCh38]
Chr8:87645199 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.715C>T (p.Arg239Cys) single nucleotide variant Achromatopsia [RCV001272748]|not provided [RCV000931618] Chr8:86667062 [GRCh38]
Chr8:87679290 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.1663-2137C>T single nucleotide variant Achromatopsia 3 [RCV001027518]|Achromatopsia [RCV000853552]|not provided [RCV002275149] Chr8:86606348 [GRCh38]
Chr8:87618576 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.1320+10G>A single nucleotide variant not provided [RCV000932518] Chr8:86632742 [GRCh38]
Chr8:87644970 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1663-1205G>A single nucleotide variant Achromatopsia 3 [RCV001270472]|Achromatopsia [RCV000853551]|not provided [RCV003768466] Chr8:86605416 [GRCh38]
Chr8:87617644 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.504G>T (p.Thr168=) single nucleotide variant Achromatopsia [RCV001827070]|not provided [RCV000975780] Chr8:86668158 [GRCh38]
Chr8:87680386 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=) single nucleotide variant Achromatopsia 3 [RCV001162418]|Achromatopsia [RCV001272741]|Severe early-childhood-onset retinal dystrophy [RCV001162417]|not provided [RCV000941867] Chr8:86629052 [GRCh38]
Chr8:87641280 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1110T>C (p.Val370=) single nucleotide variant Achromatopsia [RCV001272746]|not provided [RCV000928625] Chr8:86643819 [GRCh38]
Chr8:87656047 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.459A>G (p.Gly153=) single nucleotide variant not provided [RCV000978278] Chr8:86670978 [GRCh38]
Chr8:87683206 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1566C>T (p.Val522=) single nucleotide variant Achromatopsia [RCV001832112]|not provided [RCV000930072] Chr8:86625995 [GRCh38]
Chr8:87638223 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1183C>T (p.Leu395=) single nucleotide variant not provided [RCV000942629] Chr8:86632889 [GRCh38]
Chr8:87645117 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.633T>C (p.Asp211=) single nucleotide variant not provided [RCV000982491] Chr8:86668029 [GRCh38]
Chr8:87680257 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1422T>C (p.Leu474=) single nucleotide variant Achromatopsia [RCV001276133]|not provided [RCV000944291] Chr8:86628977 [GRCh38]
Chr8:87641205 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1055+1G>C single nucleotide variant Achromatopsia [RCV001199472]|not provided [RCV001860542] Chr8:86644621 [GRCh38]
Chr8:87656849 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.2419G>T (p.Ala807Ser) single nucleotide variant Achromatopsia [RCV001834009]|not provided [RCV001231829] Chr8:86575815 [GRCh38]
Chr8:87588043 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*1431G>A single nucleotide variant Achromatopsia 3 [RCV001159141]|Severe early-childhood-onset retinal dystrophy [RCV001159140] Chr8:86574373 [GRCh38]
Chr8:87586601 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*649A>G single nucleotide variant Achromatopsia 3 [RCV001159238]|Severe early-childhood-onset retinal dystrophy [RCV001159237] Chr8:86575155 [GRCh38]
Chr8:87587383 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*570T>C single nucleotide variant Achromatopsia 3 [RCV001159240]|Severe early-childhood-onset retinal dystrophy [RCV001159239] Chr8:86575234 [GRCh38]
Chr8:87587462 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr) single nucleotide variant Achromatopsia 3 [RCV001159336]|Inborn genetic diseases [RCV002558410]|Severe early-childhood-onset retinal dystrophy [RCV001159337] Chr8:86575811 [GRCh38]
Chr8:87588039 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=) single nucleotide variant Achromatopsia 3 [RCV001159423]|Severe early-childhood-onset retinal dystrophy [RCV001159424] Chr8:86604101 [GRCh38]
Chr8:87616329 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.115C>A (p.Gln39Lys) single nucleotide variant Achromatopsia [RCV001834089]|not provided [RCV001239459] Chr8:86743513 [GRCh38]
Chr8:87755741 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr) single nucleotide variant Achromatopsia 3 [RCV001159646]|Severe early-childhood-onset retinal dystrophy [RCV001159645] Chr8:86670977 [GRCh38]
Chr8:87683205 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2245A>G (p.Lys749Glu) single nucleotide variant Achromatopsia 3 [RCV002504366]|Achromatopsia [RCV001835305]|Inborn genetic diseases [RCV002564125]|not provided [RCV001247784] Chr8:86575989 [GRCh38]
Chr8:87588217 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1315G>A (p.Gly439Ser) single nucleotide variant not provided [RCV001232147] Chr8:86632757 [GRCh38]
Chr8:87644985 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1247C>T (p.Thr416Ile) single nucleotide variant not provided [RCV001070421] Chr8:86632825 [GRCh38]
Chr8:87645053 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1696C>T (p.His566Tyr) single nucleotide variant Achromatopsia 3 [RCV002491826]|Achromatopsia [RCV001835238]|not provided [RCV001245381] Chr8:86604178 [GRCh38]
Chr8:87616406 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe) single nucleotide variant Achromatopsia 3 [RCV001160704]|Severe early-childhood-onset retinal dystrophy [RCV001160705] Chr8:86575884 [GRCh38]
Chr8:87588112 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2011G>T (p.Glu671Ter) single nucleotide variant not provided [RCV001071877] Chr8:86578781 [GRCh38]
Chr8:87591009 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[3] (p.720QKENEDK[3]) microsatellite Achromatopsia [RCV001835180]|not provided [RCV001243660] Chr8:86576034..86576035 [GRCh38]
Chr8:87588262..87588263 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.853-1G>T single nucleotide variant not provided [RCV001213727] Chr8:86654063 [GRCh38]
Chr8:87666291 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NC_000008.11:g.(?_86604083)_(86604221_?)del deletion not provided [RCV001031205] Chr8:87616311..87616449 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1924G>A (p.Ala642Thr) single nucleotide variant Achromatopsia [RCV001833940]|not provided [RCV001224219] Chr8:86579110 [GRCh38]
Chr8:87591338 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.192_195dup (p.His66fs) duplication not provided [RCV001056792] Chr8:86739670..86739671 [GRCh38]
Chr8:87751898..87751899 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2149G>C (p.Glu717Gln) single nucleotide variant not provided [RCV001227970] Chr8:86576085 [GRCh38]
Chr8:87588313 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg) single nucleotide variant Achromatopsia 3 [RCV001162312]|Achromatopsia [RCV001276124]|Severe early-childhood-onset retinal dystrophy [RCV001162313]|not provided [RCV000933583] Chr8:86576075 [GRCh38]
Chr8:87588303 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.494-8dup duplication Achromatopsia [RCV001272749]|not provided [RCV000891279] Chr8:86668175..86668176 [GRCh38]
Chr8:87680403..87680404 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.211+17dup duplication not provided [RCV001541288] Chr8:86739620..86739621 [GRCh38]
Chr8:87751848..87751849 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.643+135A>T single nucleotide variant not provided [RCV001660830] Chr8:86667884 [GRCh38]
Chr8:87680112 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.129+50C>T single nucleotide variant not provided [RCV001560059] Chr8:86743449 [GRCh38]
Chr8:87755677 [GRCh37]
Chr8:8q21.3		 likely benign
GRCh37/hg19 8q21.3(chr8:87010235-91879538)x1 copy number loss not provided [RCV002472864] Chr8:87010235..91879538 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.211+34del deletion not provided [RCV001619066] Chr8:86739621 [GRCh38]
Chr8:87751849 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.211+32_211+34del deletion not provided [RCV001675236] Chr8:86739621..86739623 [GRCh38]
Chr8:87751849..87751851 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.130-72G>T single nucleotide variant not provided [RCV001595699] Chr8:86739808 [GRCh38]
Chr8:87752036 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.493+96C>T single nucleotide variant not provided [RCV001598479] Chr8:86670848 [GRCh38]
Chr8:87683076 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.*435G>A single nucleotide variant Achromatopsia 3 [RCV001160593]|Severe early-childhood-onset retinal dystrophy [RCV001160592] Chr8:86575369 [GRCh38]
Chr8:87587597 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter) single nucleotide variant Achromatopsia [RCV001002977]|not provided [RCV001090382] Chr8:86632865 [GRCh38]
Chr8:87645093 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.*291T>A single nucleotide variant Achromatopsia 3 [RCV001162207]|Severe early-childhood-onset retinal dystrophy [RCV001162208] Chr8:86575513 [GRCh38]
Chr8:87587741 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*800C>G single nucleotide variant Achromatopsia 3 [RCV001162131]|Severe early-childhood-onset retinal dystrophy [RCV001162130] Chr8:86575004 [GRCh38]
Chr8:87587232 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile) single nucleotide variant Achromatopsia 3 [RCV001160908]|Severe early-childhood-onset retinal dystrophy [RCV001162522]|not provided [RCV001474218] Chr8:86667056 [GRCh38]
Chr8:87679284 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1193A>G (p.Tyr398Cys) single nucleotide variant Achromatopsia [RCV001272485]|not provided [RCV001041757] Chr8:86632879 [GRCh38]
Chr8:87645107 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*183A>C single nucleotide variant Achromatopsia 3 [RCV001162211]|Severe early-childhood-onset retinal dystrophy [RCV001162212] Chr8:86575621 [GRCh38]
Chr8:87587849 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1781+1G>T single nucleotide variant Achromatopsia 3 [RCV000999643] Chr8:86604092 [GRCh38]
Chr8:87616320 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1775A>G (p.Glu592Gly) single nucleotide variant Achromatopsia [RCV001276127]|not provided [RCV001054813] Chr8:86604099 [GRCh38]
Chr8:87616327 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1856T>C (p.Leu619Pro) single nucleotide variant Achromatopsia [RCV001272478]|not provided [RCV001055424] Chr8:86579178 [GRCh38]
Chr8:87591406 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=) single nucleotide variant Achromatopsia 3 [RCV001160800]|Achromatopsia [RCV001828574]|Severe early-childhood-onset retinal dystrophy [RCV001160801]|not provided [RCV001240796] Chr8:86626046 [GRCh38]
Chr8:87638274 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu) single nucleotide variant Achromatopsia 3 [RCV001161024]|Severe early-childhood-onset retinal dystrophy [RCV001161025] Chr8:86671050 [GRCh38]
Chr8:87683278 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1531G>T (p.Ala511Ser) single nucleotide variant not provided [RCV001056551] Chr8:86626030 [GRCh38]
Chr8:87638258 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*29G>T single nucleotide variant Achromatopsia 3 [RCV001159335]|Severe early-childhood-onset retinal dystrophy [RCV001159334] Chr8:86575775 [GRCh38]
Chr8:87588003 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.4(CNGB3):c.*1733T>C single nucleotide variant Achromatopsia 3 [RCV001160380]|Severe early-childhood-onset retinal dystrophy [RCV001160381] Chr8:86574071 [GRCh38]
Chr8:87586299 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2267G>A (p.Cys756Tyr) single nucleotide variant Achromatopsia [RCV001833650]|not provided [RCV001066997] Chr8:86575967 [GRCh38]
Chr8:87588195 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.105_114del (p.Gln36fs) deletion Achromatopsia [RCV001002982]|not provided [RCV001869436] Chr8:86743514..86743523 [GRCh38]
Chr8:87755742..87755751 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2342G>A (p.Arg781His) single nucleotide variant Achromatopsia [RCV001276122]|not provided [RCV001064246] Chr8:86575892 [GRCh38]
Chr8:87588120 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.4(CNGB3):c.*1654C>T single nucleotide variant Achromatopsia 3 [RCV001162032]|Severe early-childhood-onset retinal dystrophy [RCV001162033] Chr8:86574150 [GRCh38]
Chr8:87586378 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2235G>C (p.Glu745Asp) single nucleotide variant Achromatopsia [RCV001276123]|Inborn genetic diseases [RCV003346291]|not provided [RCV001059497] Chr8:86575999 [GRCh38]
Chr8:87588227 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1982_1984dup (p.Asp661_Leu662insHis) duplication Achromatopsia [RCV001835292]|not provided [RCV001247190] Chr8:86578807..86578808 [GRCh38]
Chr8:87591035..87591036 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1834G>T (p.Gly612Trp) single nucleotide variant Achromatopsia [RCV001827234]|Inborn genetic diseases [RCV002552485]|not provided [RCV001039249] Chr8:86579200 [GRCh38]
Chr8:87591428 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.777_778del (p.Ile259fs) microsatellite not provided [RCV001049018] Chr8:86666999..86667000 [GRCh38]
Chr8:87679227..87679228 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1052A>G (p.Tyr351Cys) single nucleotide variant Achromatopsia [RCV001834057]|not provided [RCV001237239] Chr8:86644625 [GRCh38]
Chr8:87656853 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.968T>G (p.Phe323Cys) single nucleotide variant Achromatopsia [RCV001272486]|not provided [RCV001049171] Chr8:86647823 [GRCh38]
Chr8:87660051 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1117T>C (p.Trp373Arg) single nucleotide variant Achromatopsia [RCV001272745]|not provided [RCV001049380] Chr8:86643812 [GRCh38]
Chr8:87656040 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1178+6T>C single nucleotide variant Achromatopsia [RCV001272743]|not provided [RCV001049381]|not specified [RCV003987767] Chr8:86643745 [GRCh38]
Chr8:87655973 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*915G>C single nucleotide variant Achromatopsia 3 [RCV001162129]|Severe early-childhood-onset retinal dystrophy [RCV001162128] Chr8:86574889 [GRCh38]
Chr8:87587117 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.*272G>T single nucleotide variant Achromatopsia 3 [RCV001162210]|Severe early-childhood-onset retinal dystrophy [RCV001162209] Chr8:86575532 [GRCh38]
Chr8:87587760 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.206T>C (p.Ile69Thr) single nucleotide variant Achromatopsia [RCV001835310]|not provided [RCV001247846] Chr8:86739660 [GRCh38]
Chr8:87751888 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.782A>G (p.Asp261Gly) single nucleotide variant Achromatopsia [RCV001002979] Chr8:86666995 [GRCh38]
Chr8:87679223 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.595del (p.Glu199fs) deletion Achromatopsia 3 [RCV002471019]|not provided [RCV001051493] Chr8:86668067 [GRCh38]
Chr8:87680295 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.567G>A (p.Trp189Ter) single nucleotide variant not provided [RCV001035903] Chr8:86668095 [GRCh38]
Chr8:87680323 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1378G>A (p.Asp460Asn) single nucleotide variant Achromatopsia [RCV001832424]|not provided [RCV001044716] Chr8:86629021 [GRCh38]
Chr8:87641249 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg) single nucleotide variant Achromatopsia 3 [RCV001164463]|Severe early-childhood-onset retinal dystrophy [RCV001164464] Chr8:86647802 [GRCh38]
Chr8:87660030 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1811G>A (p.Arg604Gln) single nucleotide variant Achromatopsia [RCV001835328]|not provided [RCV001248209] Chr8:86579223 [GRCh38]
Chr8:87591451 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1738G>A (p.Val580Ile) single nucleotide variant Achromatopsia [RCV001272480]|not provided [RCV001064205] Chr8:86604136 [GRCh38]
Chr8:87616364 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2375C>T (p.Ala792Val) single nucleotide variant Achromatopsia [RCV001827223]|Inborn genetic diseases [RCV003259037]|not provided [RCV001037308] Chr8:86575859 [GRCh38]
Chr8:87588087 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2050G>A (p.Gly684Arg) single nucleotide variant Achromatopsia [RCV001834042]|not provided [RCV001235312] Chr8:86578742 [GRCh38]
Chr8:87590970 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1204G>T (p.Val402Phe) single nucleotide variant Achromatopsia [RCV001835321]|not provided [RCV001248071] Chr8:86632868 [GRCh38]
Chr8:87645096 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1013A>G (p.Asn338Ser) single nucleotide variant Achromatopsia [RCV001835330]|not provided [RCV001248276] Chr8:86644664 [GRCh38]
Chr8:87656892 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.503C>T (p.Thr168Met) single nucleotide variant Achromatopsia [RCV001828530]|CNGB3-related condition [RCV003906173]|Retinal dystrophy [RCV001073549]|not provided [RCV001071811] Chr8:86668159 [GRCh38]
Chr8:87680387 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.701_702delinsTG (p.Cys234Leu) indel not provided [RCV001231891] Chr8:86667075..86667076 [GRCh38]
Chr8:87679303..87679304 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.*499G>C single nucleotide variant Achromatopsia 3 [RCV001159241]|Severe early-childhood-onset retinal dystrophy [RCV001159242] Chr8:86575305 [GRCh38]
Chr8:87587533 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr) single nucleotide variant Achromatopsia 3 [RCV001159338]|Severe early-childhood-onset retinal dystrophy [RCV001159339]|not provided [RCV002558411] Chr8:86575815 [GRCh38]
Chr8:87588043 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu) single nucleotide variant Achromatopsia 3 [RCV001159642]|Severe early-childhood-onset retinal dystrophy [RCV001159643] Chr8:86670964 [GRCh38]
Chr8:87683192 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2387A>G (p.Glu796Gly) single nucleotide variant Achromatopsia [RCV001276121]|Inborn genetic diseases [RCV003160585]|not provided [RCV001070958] Chr8:86575847 [GRCh38]
Chr8:87588075 [GRCh37]
Chr8:8q21.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_019098.5(CNGB3):c.1255G>A (p.Glu419Lys) single nucleotide variant Retinal dystrophy [RCV001073612]|not provided [RCV001862509] Chr8:86632817 [GRCh38]
Chr8:87645045 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.442A>G (p.Lys148Glu) single nucleotide variant not provided [RCV001038515] Chr8:86670995 [GRCh38]
Chr8:87683223 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.298del (p.Glu100fs) deletion not provided [RCV001009149] Chr8:86726571 [GRCh38]
Chr8:87738799 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.819del (p.Arg274fs) deletion Achromatopsia [RCV001002978] Chr8:86666958 [GRCh38]
Chr8:87679186 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.4(CNGB3):c.*1705A>C single nucleotide variant Achromatopsia 3 [RCV001160382]|Severe early-childhood-onset retinal dystrophy [RCV001160383] Chr8:86574099 [GRCh38]
Chr8:87586327 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.82G>A (p.Glu28Lys) single nucleotide variant Achromatopsia [RCV001279845]|not provided [RCV001039694] Chr8:86743546 [GRCh38]
Chr8:87755774 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.831T>G (p.Phe277Leu) single nucleotide variant Achromatopsia [RCV001272488]|not provided [RCV001039797] Chr8:86666946 [GRCh38]
Chr8:87679174 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2T>A (p.Met1Lys) single nucleotide variant not provided [RCV001232354] Chr8:86743626 [GRCh38]
Chr8:87755854 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NC_000008.11:g.(?_86739645)_(86743637_?)del deletion not provided [RCV001033075] Chr8:87751873..87755865 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.701_702delinsAG (p.Cys234Ter) indel not provided [RCV001203868] Chr8:86667075..86667076 [GRCh38]
Chr8:87679303..87679304 [GRCh37]
Chr8:8q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_019098.5(CNGB3):c.468C>T (p.Ser156=) single nucleotide variant Achromatopsia [RCV001279844]|not provided [RCV002542935] Chr8:86670969 [GRCh38]
Chr8:87683197 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs) insertion Achromatopsia 3 [RCV001353010]|not provided [RCV003669237] Chr8:86643761..86643762 [GRCh38]
Chr8:87655989..87655990 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.498G>T (p.Lys166Asn) single nucleotide variant not provided [RCV001301240] Chr8:86668164 [GRCh38]
Chr8:87680392 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.527G>A (p.Ser176Asn) single nucleotide variant not provided [RCV001299414] Chr8:86668135 [GRCh38]
Chr8:87680363 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.818C>T (p.Pro273Leu) single nucleotide variant Achromatopsia [RCV001835555]|not provided [RCV001314557] Chr8:86666959 [GRCh38]
Chr8:87679187 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.853G>A (p.Val285Met) single nucleotide variant Achromatopsia [RCV001835580]|not provided [RCV001317704] Chr8:86654062 [GRCh38]
Chr8:87666290 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.803T>C (p.Met268Thr) single nucleotide variant Achromatopsia [RCV001831094]|not provided [RCV001343314] Chr8:86666974 [GRCh38]
Chr8:87679202 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.910G>T (p.Val304Phe) single nucleotide variant Achromatopsia [RCV001830396]|not provided [RCV001337675] Chr8:86647881 [GRCh38]
Chr8:87660109 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.353C>T (p.Pro118Leu) single nucleotide variant Achromatopsia [RCV001825898]|not provided [RCV001343922] Chr8:86671084 [GRCh38]
Chr8:87683312 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1003_1011del (p.Phe335_Phe337del) deletion not provided [RCV001309639] Chr8:86644666..86644674 [GRCh38]
Chr8:87656894..87656902 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.613A>C (p.Lys205Gln) single nucleotide variant Achromatopsia [RCV001830328]|not provided [RCV001319507] Chr8:86668049 [GRCh38]
Chr8:87680277 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.315C>T (p.Asp105=) single nucleotide variant not provided [RCV001392540] Chr8:86726554 [GRCh38]
Chr8:87738782 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1376T>C (p.Met459Thr) single nucleotide variant Achromatopsia [RCV001831330]|not provided [RCV001374180] Chr8:86629023 [GRCh38]
Chr8:87641251 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1245A>G (p.Gln415=) single nucleotide variant not provided [RCV001422311] Chr8:86632827 [GRCh38]
Chr8:87645055 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2180A>G (p.Gln727Arg) single nucleotide variant Achromatopsia [RCV001826012]|not provided [RCV001361861] Chr8:86576054 [GRCh38]
Chr8:87588282 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2124A>G (p.Gly708=) single nucleotide variant Achromatopsia [RCV001831416]|not provided [RCV001396821] Chr8:86576110 [GRCh38]
Chr8:87588338 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro) single nucleotide variant Achromatopsia 3 [RCV002250749]|Achromatopsia [RCV001279842]|not provided [RCV001305799]|not specified [RCV003331099] Chr8:86667097 [GRCh38]
Chr8:87679325 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1458A>G (p.Thr486=) single nucleotide variant not provided [RCV001395997] Chr8:86628941 [GRCh38]
Chr8:87641169 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.494-6A>G single nucleotide variant not provided [RCV001422649] Chr8:86668174 [GRCh38]
Chr8:87680402 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2124A>C (p.Gly708=) single nucleotide variant not provided [RCV001422657] Chr8:86576110 [GRCh38]
Chr8:87588338 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.84A>G (p.Glu28=) single nucleotide variant not provided [RCV001392430] Chr8:86743544 [GRCh38]
Chr8:87755772 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.412A>C (p.Arg138=) single nucleotide variant not provided [RCV001396882] Chr8:86671025 [GRCh38]
Chr8:87683253 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1306A>C (p.Ser436Arg) single nucleotide variant not provided [RCV001362630]|not specified [RCV003235562] Chr8:86632766 [GRCh38]
Chr8:87644994 [GRCh37]
Chr8:8q21.3		 likely pathogenic|uncertain significance
NM_019098.5(CNGB3):c.2224A>T (p.Lys742Ter) single nucleotide variant not provided [RCV001344809] Chr8:86576010 [GRCh38]
Chr8:87588238 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.1178+5G>T single nucleotide variant Achromatopsia 3 [RCV001270471] Chr8:86643746 [GRCh38]
Chr8:87655974 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.489A>T (p.Gln163His) single nucleotide variant Achromatopsia [RCV001279843]|not provided [RCV001343561] Chr8:86670948 [GRCh38]
Chr8:87683176 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2200G>C (p.Gly734Arg) single nucleotide variant not provided [RCV001296510] Chr8:86576034 [GRCh38]
Chr8:87588262 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.547C>G (p.His183Asp) single nucleotide variant not provided [RCV001341553] Chr8:86668115 [GRCh38]
Chr8:87680343 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1087A>T (p.Ile363Phe) single nucleotide variant not provided [RCV001344535] Chr8:86643842 [GRCh38]
Chr8:87656070 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2153A>G (p.Asp718Gly) single nucleotide variant not provided [RCV001359960] Chr8:86576081 [GRCh38]
Chr8:87588309 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.506C>A (p.Ala169Asp) single nucleotide variant not provided [RCV001366292] Chr8:86668156 [GRCh38]
Chr8:87680384 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1632C>T (p.Leu544=) single nucleotide variant not provided [RCV001421414] Chr8:86611618 [GRCh38]
Chr8:87623846 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1778T>G (p.Ile593Ser) single nucleotide variant Achromatopsia [RCV001831270]|not provided [RCV001366796] Chr8:86604096 [GRCh38]
Chr8:87616324 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2370T>C (p.Pro790=) single nucleotide variant not provided [RCV001395567] Chr8:86575864 [GRCh38]
Chr8:87588092 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2103+4A>G single nucleotide variant Achromatopsia [RCV001279840] Chr8:86578685 [GRCh38]
Chr8:87590913 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1937T>C (p.Leu646Ser) single nucleotide variant not provided [RCV001316654] Chr8:86578855 [GRCh38]
Chr8:87591083 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.995C>T (p.Thr332Ile) single nucleotide variant Achromatopsia [RCV001831259]|not provided [RCV001365425] Chr8:86644682 [GRCh38]
Chr8:87656910 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.991-8C>T single nucleotide variant not provided [RCV001422125] Chr8:86644694 [GRCh38]
Chr8:87656922 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.852+4010_903+1699dup duplication Achromatopsia 3 [RCV001293009] Chr8:86652312..86652313 [GRCh38]
Chr8:87664540..87664541 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1638G>A (p.Leu546=) single nucleotide variant not provided [RCV001421419] Chr8:86611612 [GRCh38]
Chr8:87623840 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.927A>G (p.Pro309=) single nucleotide variant not provided [RCV001493790] Chr8:86647864 [GRCh38]
Chr8:87660092 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2307A>T (p.Ser769=) single nucleotide variant not provided [RCV001412366] Chr8:86575927 [GRCh38]
Chr8:87588155 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1063C>A (p.Arg355=) single nucleotide variant not provided [RCV001413634] Chr8:86643866 [GRCh38]
Chr8:87656094 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1178+11A>G single nucleotide variant not provided [RCV001457508] Chr8:86643740 [GRCh38]
Chr8:87655968 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.249C>A (p.Thr83=) single nucleotide variant not provided [RCV001490342] Chr8:86726620 [GRCh38]
Chr8:87738848 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1911C>T (p.Ile637=) single nucleotide variant not provided [RCV001495435] Chr8:86579123 [GRCh38]
Chr8:87591351 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.273A>G (p.Ala91=) single nucleotide variant not provided [RCV001501963] Chr8:86726596 [GRCh38]
Chr8:87738824 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1615A>C (p.Arg539=) single nucleotide variant not provided [RCV001399459] Chr8:86611635 [GRCh38]
Chr8:87623863 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.318C>T (p.Pro106=) single nucleotide variant not provided [RCV001417206] Chr8:86726551 [GRCh38]
Chr8:87738779 [GRCh37]
Chr8:8q21.3		 likely benign
NC_000008.10:g.(?_87666240)_(87683326_?)dup duplication not provided [RCV001380713] Chr8:87666240..87683326 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1827G>T (p.Val609=) single nucleotide variant not provided [RCV001425361] Chr8:86579207 [GRCh38]
Chr8:87591435 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1464C>T (p.Asp488=) single nucleotide variant not provided [RCV001491269] Chr8:86628935 [GRCh38]
Chr8:87641163 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1480+7A>G single nucleotide variant not provided [RCV001462783] Chr8:86628912 [GRCh38]
Chr8:87641140 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2346A>G (p.Gln782=) single nucleotide variant not provided [RCV001471290] Chr8:86575888 [GRCh38]
Chr8:87588116 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1186A>C (p.Arg396=) single nucleotide variant not provided [RCV001491423] Chr8:86632886 [GRCh38]
Chr8:87645114 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1389T>C (p.Ile463=) single nucleotide variant not provided [RCV001480359] Chr8:86629010 [GRCh38]
Chr8:87641238 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1176C>T (p.Asn392=) single nucleotide variant not provided [RCV001503801] Chr8:86643753 [GRCh38]
Chr8:87655981 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1794A>T (p.Ala598=) single nucleotide variant not provided [RCV001471812] Chr8:86579240 [GRCh38]
Chr8:87591468 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1782-20C>T single nucleotide variant not provided [RCV001483871] Chr8:86579272 [GRCh38]
Chr8:87591500 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2325A>G (p.Leu775=) single nucleotide variant not provided [RCV001455767] Chr8:86575909 [GRCh38]
Chr8:87588137 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1662+9A>G single nucleotide variant not provided [RCV001463633] Chr8:86611579 [GRCh38]
Chr8:87623807 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2367T>C (p.Ala789=) single nucleotide variant not provided [RCV001489450] Chr8:86575867 [GRCh38]
Chr8:87588095 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1956C>T (p.Thr652=) single nucleotide variant Achromatopsia [RCV001826248]|not provided [RCV001434707] Chr8:86578836 [GRCh38]
Chr8:87591064 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.852+10G>A single nucleotide variant not provided [RCV001393424] Chr8:86666915 [GRCh38]
Chr8:87679143 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.991-6A>G single nucleotide variant not provided [RCV001401318] Chr8:86644692 [GRCh38]
Chr8:87656920 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.852+9G>T single nucleotide variant not provided [RCV001491949] Chr8:86666916 [GRCh38]
Chr8:87679144 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1224T>C (p.Ile408=) single nucleotide variant not provided [RCV001478285] Chr8:86632848 [GRCh38]
Chr8:87645076 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-19G>T single nucleotide variant not provided [RCV001486233] Chr8:86726676 [GRCh38]
Chr8:87738904 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1578+20A>G single nucleotide variant not provided [RCV001493592] Chr8:86625963 [GRCh38]
Chr8:87638191 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2179_2182del (p.Gln727fs) deletion not provided [RCV001382163] Chr8:86576052..86576055 [GRCh38]
Chr8:87588280..87588283 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.130-1G>A single nucleotide variant Achromatopsia [RCV001831366]|not provided [RCV001379099] Chr8:86739737 [GRCh38]
Chr8:87751965 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1221C>T (p.Thr407=) single nucleotide variant not provided [RCV001428047] Chr8:86632851 [GRCh38]
Chr8:87645079 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1335T>C (p.Ile445=) single nucleotide variant not provided [RCV001409629] Chr8:86629064 [GRCh38]
Chr8:87641292 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.381T>C (p.Tyr127=) single nucleotide variant not provided [RCV001400808] Chr8:86671056 [GRCh38]
Chr8:87683284 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1968C>G (p.Thr656=) single nucleotide variant not provided [RCV001434276] Chr8:86578824 [GRCh38]
Chr8:87591052 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2175T>C (p.Asp725=) single nucleotide variant not provided [RCV001435746] Chr8:86576059 [GRCh38]
Chr8:87588287 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.39T>C (p.Pro13=) single nucleotide variant not provided [RCV001430265] Chr8:86743589 [GRCh38]
Chr8:87755817 [GRCh37]
Chr8:8q21.3		 likely benign
NC_000008.10:g.(?_87638201)_(87645131_?)del deletion not provided [RCV001380712] Chr8:87638201..87645131 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.969T>C (p.Phe323=) single nucleotide variant not provided [RCV001424972] Chr8:86647822 [GRCh38]
Chr8:87660050 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1928+7C>A single nucleotide variant not provided [RCV001435915] Chr8:86579099 [GRCh38]
Chr8:87591327 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.835A>G (p.Arg279Gly) single nucleotide variant not provided [RCV001426684] Chr8:86666942 [GRCh38]
Chr8:87679170 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1413T>A (p.Ile471=) single nucleotide variant not provided [RCV001403480] Chr8:86628986 [GRCh38]
Chr8:87641214 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.339-8T>C single nucleotide variant not provided [RCV001423582] Chr8:86671106 [GRCh38]
Chr8:87683334 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.666C>T (p.Leu222=) single nucleotide variant not provided [RCV001449462] Chr8:86667111 [GRCh38]
Chr8:87679339 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.999A>G (p.Ser333=) single nucleotide variant not provided [RCV001431206] Chr8:86644678 [GRCh38]
Chr8:87656906 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1782-11CT[2] microsatellite not provided [RCV001444724] Chr8:86579258..86579259 [GRCh38]
Chr8:87591486..87591487 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1928+11T>A single nucleotide variant not provided [RCV001416028] Chr8:86579095 [GRCh38]
Chr8:87591323 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.130-7C>T single nucleotide variant not provided [RCV001431070] Chr8:86739743 [GRCh38]
Chr8:87751971 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.183G>A (p.Thr61=) single nucleotide variant Achromatopsia [RCV001831451]|not provided [RCV001410558] Chr8:86739683 [GRCh38]
Chr8:87751911 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1077C>T (p.Tyr359=) single nucleotide variant not provided [RCV001431177] Chr8:86643852 [GRCh38]
Chr8:87656080 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.211+8T>C single nucleotide variant not provided [RCV001447683] Chr8:86739647 [GRCh38]
Chr8:87751875 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1579-5T>C single nucleotide variant not provided [RCV001393289] Chr8:86611676 [GRCh38]
Chr8:87623904 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2382C>A (p.Gly794=) single nucleotide variant not provided [RCV001437959] Chr8:86575852 [GRCh38]
Chr8:87588080 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2340T>A (p.Ser780=) single nucleotide variant not provided [RCV001438857] Chr8:86575894 [GRCh38]
Chr8:87588122 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.12G>T (p.Ser4=) single nucleotide variant not provided [RCV001408494] Chr8:86743616 [GRCh38]
Chr8:87755844 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.701G>A (p.Cys234Tyr) single nucleotide variant Achromatopsia 3 [RCV001526713] Chr8:86667076 [GRCh38]
Chr8:87679304 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.668T>A (p.Leu223Ter) single nucleotide variant not provided [RCV001388898] Chr8:86667109 [GRCh38]
Chr8:87679337 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.504G>A (p.Thr168=) single nucleotide variant not provided [RCV001445371] Chr8:86668158 [GRCh38]
Chr8:87680386 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1539T>C (p.Asp513=) single nucleotide variant not provided [RCV001416422] Chr8:86626022 [GRCh38]
Chr8:87638250 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1125A>C (p.Ser375=) single nucleotide variant not provided [RCV001432112] Chr8:86643804 [GRCh38]
Chr8:87656032 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.990+7T>G single nucleotide variant not provided [RCV001428471] Chr8:86647794 [GRCh38]
Chr8:87660022 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2307A>G (p.Ser769=) single nucleotide variant not provided [RCV001408960] Chr8:86575927 [GRCh38]
Chr8:87588155 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2397T>C (p.Leu799=) single nucleotide variant not provided [RCV001427507] Chr8:86575837 [GRCh38]
Chr8:87588065 [GRCh37]
Chr8:8q21.3		 likely benign
NC_000008.10:g.(?_87644970)_(87660125_?)del deletion not provided [RCV001377767] Chr8:87644970..87660125 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1738del (p.Val580fs) deletion not provided [RCV001382110] Chr8:86604136 [GRCh38]
Chr8:87616364 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.211+10C>A single nucleotide variant not provided [RCV001468237] Chr8:86739645 [GRCh38]
Chr8:87751873 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.873G>A (p.Arg291=) single nucleotide variant not provided [RCV001494911] Chr8:86654042 [GRCh38]
Chr8:87666270 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1056-6T>C single nucleotide variant not provided [RCV001457569] Chr8:86643879 [GRCh38]
Chr8:87656107 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-8T>C single nucleotide variant not provided [RCV001465028] Chr8:86726665 [GRCh38]
Chr8:87738893 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1392C>G (p.Ala464=) single nucleotide variant not provided [RCV001450556] Chr8:86629007 [GRCh38]
Chr8:87641235 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.588T>C (p.Pro196=) single nucleotide variant not provided [RCV001482446] Chr8:86668074 [GRCh38]
Chr8:87680302 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1350C>T (p.Ala450=) single nucleotide variant not provided [RCV001473488] Chr8:86629049 [GRCh38]
Chr8:87641277 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.153A>G (p.Lys51=) single nucleotide variant not provided [RCV001450862] Chr8:86739713 [GRCh38]
Chr8:87751941 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.258T>C (p.Pro86=) single nucleotide variant not provided [RCV001458497] Chr8:86726611 [GRCh38]
Chr8:87738839 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1928+18C>T single nucleotide variant not provided [RCV001519654] Chr8:86579088 [GRCh38]
Chr8:87591316 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.562T>C (p.Leu188=) single nucleotide variant not provided [RCV001482459] Chr8:86668100 [GRCh38]
Chr8:87680328 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1321-97C>A single nucleotide variant not provided [RCV001688578] Chr8:86629175 [GRCh38]
Chr8:87641403 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.2403T>C (p.Ile801=) single nucleotide variant not provided [RCV001496365] Chr8:86575831 [GRCh38]
Chr8:87588059 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1251A>G (p.Leu417=) single nucleotide variant not provided [RCV001499811] Chr8:86632821 [GRCh38]
Chr8:87645049 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1272C>G (p.Leu424=) single nucleotide variant not provided [RCV001465232] Chr8:86632800 [GRCh38]
Chr8:87645028 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2418G>A (p.Lys806=) single nucleotide variant not provided [RCV001451754] Chr8:86575816 [GRCh38]
Chr8:87588044 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2352C>T (p.Leu784=) single nucleotide variant not provided [RCV001451764] Chr8:86575882 [GRCh38]
Chr8:87588110 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1614A>G (p.Leu538=) single nucleotide variant not provided [RCV001452289] Chr8:86611636 [GRCh38]
Chr8:87623864 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1662+67A>G single nucleotide variant not provided [RCV001613575] Chr8:86611521 [GRCh38]
Chr8:87623749 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.1800A>G (p.Gly600=) single nucleotide variant not provided [RCV001501021] Chr8:86579234 [GRCh38]
Chr8:87591462 [GRCh37]
Chr8:8q21.3		 likely benign
NC_000008.11:g.86743727A>T single nucleotide variant not provided [RCV001665651] Chr8:86743727 [GRCh38]
Chr8:87755955 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.494-11del deletion Achromatopsia [RCV001832690]|not provided [RCV001513344] Chr8:86668179 [GRCh38]
Chr8:87680407 [GRCh37]
Chr8:8q21.3		 benign|likely benign
NM_019098.5(CNGB3):c.1611G>A (p.Leu537=) single nucleotide variant not provided [RCV001453501] Chr8:86611639 [GRCh38]
Chr8:87623867 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.643+18A>G single nucleotide variant not provided [RCV001478264] Chr8:86668001 [GRCh38]
Chr8:87680229 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2400T>A (p.Thr800=) single nucleotide variant not provided [RCV001471316] Chr8:86575834 [GRCh38]
Chr8:87588062 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.945C>T (p.Leu315=) single nucleotide variant not provided [RCV001453195] Chr8:86647846 [GRCh38]
Chr8:87660074 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1191T>C (p.Cys397=) single nucleotide variant not provided [RCV001490250] Chr8:86632881 [GRCh38]
Chr8:87645109 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2181_2184del (p.Glu729fs) deletion not provided [RCV001377961] Chr8:86576050..86576053 [GRCh38]
Chr8:87588278..87588281 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.212-5dup duplication not provided [RCV001405711] Chr8:86726661..86726662 [GRCh38]
Chr8:87738889..87738890 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1782-17A>G single nucleotide variant not provided [RCV001497819] Chr8:86579269 [GRCh38]
Chr8:87591497 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.318C>G (p.Pro106=) single nucleotide variant not provided [RCV001468609] Chr8:86726551 [GRCh38]
Chr8:87738779 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.130-5C>T single nucleotide variant not provided [RCV001452359] Chr8:86739741 [GRCh38]
Chr8:87751969 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2103+8G>A single nucleotide variant not provided [RCV001460972] Chr8:86578681 [GRCh38]
Chr8:87590909 [GRCh37]
Chr8:8q21.3		 likely benign|conflicting interpretations of pathogenicity
NM_019098.5(CNGB3):c.2295A>G (p.Glu765=) single nucleotide variant not provided [RCV001486458] Chr8:86575939 [GRCh38]
Chr8:87588167 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1248T>A (p.Thr416=) single nucleotide variant not provided [RCV001470862] Chr8:86632824 [GRCh38]
Chr8:87645052 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.826C>T (p.Gln276Ter) single nucleotide variant not provided [RCV001390850] Chr8:86666951 [GRCh38]
Chr8:87679179 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1458A>C (p.Thr486=) single nucleotide variant not provided [RCV001457179] Chr8:86628941 [GRCh38]
Chr8:87641169 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.705T>C (p.Phe235=) single nucleotide variant not provided [RCV001460564] Chr8:86667072 [GRCh38]
Chr8:87679300 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.354G>A (p.Pro118=) single nucleotide variant not provided [RCV001510841] Chr8:86671083 [GRCh38]
Chr8:87683311 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.1626C>A (p.Ser542=) single nucleotide variant not provided [RCV001496506] Chr8:86611624 [GRCh38]
Chr8:87623852 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.264T>C (p.Pro88=) single nucleotide variant not provided [RCV001438332] Chr8:86726605 [GRCh38]
Chr8:87738833 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.12G>A (p.Ser4=) single nucleotide variant Achromatopsia [RCV001826306]|CNGB3-related condition [RCV003956050]|not provided [RCV001476500] Chr8:86743616 [GRCh38]
Chr8:87755844 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1056-1G>C single nucleotide variant not provided [RCV001378336] Chr8:86643874 [GRCh38]
Chr8:87656102 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.528C>T (p.Ser176=) single nucleotide variant not provided [RCV001496828] Chr8:86668134 [GRCh38]
Chr8:87680362 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.886_890del (p.Thr296fs) deletion Achromatopsia 3 [RCV002307741]|not provided [RCV001383906] Chr8:86654025..86654029 [GRCh38]
Chr8:87666253..87666257 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic
NM_019098.5(CNGB3):c.212-12T>C single nucleotide variant not provided [RCV001430146] Chr8:86726669 [GRCh38]
Chr8:87738897 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1908G>T (p.Arg636Ser) single nucleotide variant not provided [RCV001436927] Chr8:86579126 [GRCh38]
Chr8:87591354 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.600C>T (p.Tyr200=) single nucleotide variant not provided [RCV001503872] Chr8:86668062 [GRCh38]
Chr8:87680290 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.15G>C (p.Leu5=) single nucleotide variant not provided [RCV001416390] Chr8:86743613 [GRCh38]
Chr8:87755841 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.853-16T>C single nucleotide variant not provided [RCV001477041] Chr8:86654078 [GRCh38]
Chr8:87666306 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1370C>A (p.Ala457Asp) single nucleotide variant not provided [RCV001489350] Chr8:86629029 [GRCh38]
Chr8:87641257 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.917C>A (p.Ser306Ter) single nucleotide variant not provided [RCV001384785] Chr8:86647874 [GRCh38]
Chr8:87660102 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.129+19T>C single nucleotide variant not provided [RCV001459872] Chr8:86743480 [GRCh38]
Chr8:87755708 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1662+20C>A single nucleotide variant not provided [RCV001502824] Chr8:86611568 [GRCh38]
Chr8:87623796 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1359C>T (p.Asn453=) single nucleotide variant not provided [RCV003106821] Chr8:86629040 [GRCh38]
Chr8:87641268 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.442_446delinsGAAAAT (p.Lys148fs) indel Achromatopsia 3 [RCV001780519] Chr8:86670991..86670995 [GRCh38]
Chr8:87683219..87683223 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.381T>G (p.Tyr127Ter) single nucleotide variant not provided [RCV002007463] Chr8:86671056 [GRCh38]
Chr8:87683284 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1415C>T (p.Pro472Leu) single nucleotide variant not provided [RCV001896898] Chr8:86628984 [GRCh38]
Chr8:87641212 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.192G>T (p.Glu64Asp) single nucleotide variant not provided [RCV002008906] Chr8:86739674 [GRCh38]
Chr8:87751902 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.385G>A (p.Asp129Asn) single nucleotide variant not provided [RCV001950653] Chr8:86671052 [GRCh38]
Chr8:87683280 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1553TCA[1] (p.Ile519del) microsatellite not provided [RCV001915574] Chr8:86626003..86626005 [GRCh38]
Chr8:87638231..87638233 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.307G>A (p.Glu103Lys) single nucleotide variant not provided [RCV001983655] Chr8:86726562 [GRCh38]
Chr8:87738790 [GRCh37]
Chr8:8q21.3		 uncertain significance
NC_000008.10:g.(?_87679143)_(87680406_?)del deletion not provided [RCV001946930] Chr8:87679143..87680406 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1331T>G (p.Val444Gly) single nucleotide variant not provided [RCV002002233] Chr8:86629068 [GRCh38]
Chr8:87641296 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2362A>G (p.Met788Val) single nucleotide variant not provided [RCV001913707] Chr8:86575872 [GRCh38]
Chr8:87588100 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.350A>G (p.Lys117Arg) single nucleotide variant not provided [RCV001891986] Chr8:86671087 [GRCh38]
Chr8:87683315 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2103+5T>C single nucleotide variant not provided [RCV001950316] Chr8:86578684 [GRCh38]
Chr8:87590912 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.129+3A>G single nucleotide variant not provided [RCV001914100] Chr8:86743496 [GRCh38]
Chr8:87755724 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.760C>T (p.Leu254Phe) single nucleotide variant not provided [RCV001950478] Chr8:86667017 [GRCh38]
Chr8:87679245 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1168G>T (p.Glu390Ter) single nucleotide variant not provided [RCV002007197] Chr8:86643761 [GRCh38]
Chr8:87655989 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.626G>C (p.Ser209Thr) single nucleotide variant not provided [RCV002045259] Chr8:86668036 [GRCh38]
Chr8:87680264 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1327G>T (p.Asp443Tyr) single nucleotide variant not provided [RCV002009374] Chr8:86629072 [GRCh38]
Chr8:87641300 [GRCh37]
Chr8:8q21.3		 uncertain significance
NC_000008.10:g.(?_87588022)_(87591490_?)del deletion not provided [RCV001982965] Chr8:87588022..87591490 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1924G>T (p.Ala642Ser) single nucleotide variant not provided [RCV002039865] Chr8:86579110 [GRCh38]
Chr8:87591338 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.283A>C (p.Thr95Pro) single nucleotide variant not provided [RCV002021813] Chr8:86726586 [GRCh38]
Chr8:87738814 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.571A>G (p.Lys191Glu) single nucleotide variant not provided [RCV002003867] Chr8:86668091 [GRCh38]
Chr8:87680319 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.68G>T (p.Ser23Ile) single nucleotide variant Inborn genetic diseases [RCV002548768]|not provided [RCV002023394] Chr8:86743560 [GRCh38]
Chr8:87755788 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.598T>C (p.Tyr200His) single nucleotide variant not provided [RCV001945442] Chr8:86668064 [GRCh38]
Chr8:87680292 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.647G>A (p.Arg216Gln) single nucleotide variant not provided [RCV001985025] Chr8:86667130 [GRCh38]
Chr8:87679358 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.952G>A (p.Gly318Arg) single nucleotide variant not provided [RCV001964918] Chr8:86647839 [GRCh38]
Chr8:87660067 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q21.3(chr8:87429000-87605195)x1 copy number loss not provided [RCV001827603] Chr8:87429000..87605195 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1756G>A (p.Ala586Thr) single nucleotide variant not provided [RCV001967425] Chr8:86604118 [GRCh38]
Chr8:87616346 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1370_1371del (p.Ala457fs) deletion not provided [RCV001928423] Chr8:86629028..86629029 [GRCh38]
Chr8:87641256..87641257 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.397C>T (p.His133Tyr) single nucleotide variant not provided [RCV001894541] Chr8:86671040 [GRCh38]
Chr8:87683268 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.479C>T (p.Ala160Val) single nucleotide variant not provided [RCV002022215] Chr8:86670958 [GRCh38]
Chr8:87683186 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1231C>T (p.Leu411Phe) single nucleotide variant not provided [RCV001948485] Chr8:86632841 [GRCh38]
Chr8:87645069 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1431del (p.Lys477fs) deletion not provided [RCV001928234] Chr8:86628968 [GRCh38]
Chr8:87641196 [GRCh37]
Chr8:8q21.3		 pathogenic
GRCh37/hg19 8q21.3(chr8:87660100-88885305) copy number gain not specified [RCV002053783] Chr8:87660100..88885305 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1214T>C (p.Leu405Ser) single nucleotide variant Achromatopsia 3 [RCV002052156] Chr8:86632858 [GRCh38]
Chr8:87645086 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1578+3A>T single nucleotide variant not provided [RCV001895118] Chr8:86625980 [GRCh38]
Chr8:87638208 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2047A>C (p.Thr683Pro) single nucleotide variant Achromatopsia 3 [RCV002478317]|Inborn genetic diseases [RCV002555289]|not provided [RCV001913102] Chr8:86578745 [GRCh38]
Chr8:87590973 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2184del (p.Glu729fs) deletion not provided [RCV001911708] Chr8:86576050 [GRCh38]
Chr8:87588278 [GRCh37]
Chr8:8q21.3		 pathogenic
GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707) copy number loss not specified [RCV002053776] Chr8:77906471..88917707 [GRCh37]
Chr8:8q21.11-21.3		 pathogenic
NM_019098.5(CNGB3):c.1126A>C (p.Asn376His) single nucleotide variant not provided [RCV001968640] Chr8:86643803 [GRCh38]
Chr8:87656031 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.194C>G (p.Pro65Arg) single nucleotide variant not provided [RCV002023671] Chr8:86739672 [GRCh38]
Chr8:87751900 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NC_000008.10:g.(?_87679332)_(87687741_?)del deletion not provided [RCV002007268] Chr8:87679332..87687741 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1929-6_1929-5delinsAA indel not provided [RCV001976547] Chr8:86578868..86578869 [GRCh38]
Chr8:87591096..87591097 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.991-1_992del deletion not provided [RCV002037058] Chr8:86644685..86644687 [GRCh38]
Chr8:87656913..87656915 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1044A>G (p.Ala348=) single nucleotide variant not provided [RCV001962885] Chr8:86644633 [GRCh38]
Chr8:87656861 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1764G>A (p.Ser588=) single nucleotide variant not provided [RCV001943120] Chr8:86604110 [GRCh38]
Chr8:87616338 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.959A>T (p.Asn320Ile) single nucleotide variant not provided [RCV001957384] Chr8:86647832 [GRCh38]
Chr8:87660060 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1576A>T (p.Lys526Ter) single nucleotide variant not provided [RCV001936904] Chr8:86625985 [GRCh38]
Chr8:87638213 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.590T>G (p.Leu197Ter) single nucleotide variant not provided [RCV002037721] Chr8:86668072 [GRCh38]
Chr8:87680300 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1666G>T (p.Glu556Ter) single nucleotide variant not provided [RCV001981889] Chr8:86604208 [GRCh38]
Chr8:87616436 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1250del (p.Leu417fs) deletion not provided [RCV001944195] Chr8:86632822 [GRCh38]
Chr8:87645050 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1180T>A (p.Tyr394Asn) single nucleotide variant not provided [RCV001920901] Chr8:86632892 [GRCh38]
Chr8:87645120 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1461G>A (p.Trp487Ter) single nucleotide variant not provided [RCV001982043] Chr8:86628938 [GRCh38]
Chr8:87641166 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1301T>C (p.Phe434Ser) single nucleotide variant not provided [RCV001925978] Chr8:86632771 [GRCh38]
Chr8:87644999 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.903+1G>A single nucleotide variant not provided [RCV002016435] Chr8:86654011 [GRCh38]
Chr8:87666239 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.107A>G (p.Gln36Arg) single nucleotide variant not provided [RCV001975810] Chr8:86743521 [GRCh38]
Chr8:87755749 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.953G>T (p.Gly318Val) single nucleotide variant not provided [RCV002014951] Chr8:86647838 [GRCh38]
Chr8:87660066 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.377A>G (p.Glu126Gly) single nucleotide variant not provided [RCV002000984] Chr8:86671060 [GRCh38]
Chr8:87683288 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1579-2del deletion not provided [RCV002000119] Chr8:86611673 [GRCh38]
Chr8:87623901 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2401A>G (p.Ile801Val) single nucleotide variant not provided [RCV002019353] Chr8:86575833 [GRCh38]
Chr8:87588061 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.250_262del (p.Thr84fs) deletion not provided [RCV001941651] Chr8:86726607..86726619 [GRCh38]
Chr8:87738835..87738847 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1310T>G (p.Leu437Ter) single nucleotide variant not provided [RCV001962739] Chr8:86632762 [GRCh38]
Chr8:87644990 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.566G>A (p.Trp189Ter) single nucleotide variant not provided [RCV001920136] Chr8:86668096 [GRCh38]
Chr8:87680324 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2179_2180delinsGG (p.Gln727Gly) indel not provided [RCV001943798] Chr8:86576054..86576055 [GRCh38]
Chr8:87588282..87588283 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2186A>G (p.Glu729Gly) single nucleotide variant not provided [RCV002029316] Chr8:86576048 [GRCh38]
Chr8:87588276 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1400A>G (p.Asn467Ser) single nucleotide variant not provided [RCV001992195] Chr8:86628999 [GRCh38]
Chr8:87641227 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.990+1G>T single nucleotide variant not provided [RCV002029549] Chr8:86647800 [GRCh38]
Chr8:87660028 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1438C>T (p.Arg480Trp) single nucleotide variant not provided [RCV001899171] Chr8:86628961 [GRCh38]
Chr8:87641189 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1216A>T (p.Ile406Phe) single nucleotide variant not provided [RCV001993834] Chr8:86632856 [GRCh38]
Chr8:87645084 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2060G>A (p.Ser687Asn) single nucleotide variant not provided [RCV001881622] Chr8:86578732 [GRCh38]
Chr8:87590960 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1444T>G (p.Trp482Gly) single nucleotide variant not provided [RCV001916623] Chr8:86628955 [GRCh38]
Chr8:87641183 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1484A>C (p.Glu495Ala) single nucleotide variant Inborn genetic diseases [RCV002555619]|not provided [RCV001932702] Chr8:86626077 [GRCh38]
Chr8:87638305 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1806C>G (p.Asn602Lys) single nucleotide variant Inborn genetic diseases [RCV002562903]|not provided [RCV001956004] Chr8:86579228 [GRCh38]
Chr8:87591456 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1201G>A (p.Ala401Thr) single nucleotide variant not provided [RCV001882935] Chr8:86632871 [GRCh38]
Chr8:87645099 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1855C>G (p.Leu619Val) single nucleotide variant not provided [RCV002012107] Chr8:86579179 [GRCh38]
Chr8:87591407 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.357del (p.Ala120fs) deletion not provided [RCV001876608] Chr8:86671080 [GRCh38]
Chr8:87683308 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1315G>T (p.Gly439Cys) single nucleotide variant not provided [RCV001875213] Chr8:86632757 [GRCh38]
Chr8:87644985 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1637T>A (p.Leu546Ter) single nucleotide variant not provided [RCV001875287] Chr8:86611613 [GRCh38]
Chr8:87623841 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.90C>T (p.Gly30=) single nucleotide variant not provided [RCV001934198] Chr8:86743538 [GRCh38]
Chr8:87755766 [GRCh37]
Chr8:8q21.3		 likely benign|uncertain significance
NM_019098.5(CNGB3):c.470C>A (p.Ser157Ter) single nucleotide variant not provided [RCV001918629] Chr8:86670967 [GRCh38]
Chr8:87683195 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1627G>A (p.Val543Ile) single nucleotide variant not provided [RCV001976437] Chr8:86611623 [GRCh38]
Chr8:87623851 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.727C>T (p.Pro243Ser) single nucleotide variant not provided [RCV001977783] Chr8:86667050 [GRCh38]
Chr8:87679278 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1640C>G (p.Pro547Arg) single nucleotide variant not provided [RCV002013868] Chr8:86611610 [GRCh38]
Chr8:87623838 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.704T>A (p.Phe235Tyr) single nucleotide variant not provided [RCV001935656] Chr8:86667073 [GRCh38]
Chr8:87679301 [GRCh37]
Chr8:8q21.3		 uncertain significance
NC_000008.10:g.(?_87588022)_(87755865_?)del deletion not provided [RCV001951550] Chr8:87588022..87755865 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1684T>C (p.Tyr562His) single nucleotide variant not provided [RCV001954219] Chr8:86604190 [GRCh38]
Chr8:87616418 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2104-2A>G single nucleotide variant not provided [RCV002033609] Chr8:86576132 [GRCh38]
Chr8:87588360 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.92C>T (p.Ser31Phe) single nucleotide variant not provided [RCV001905090] Chr8:86743536 [GRCh38]
Chr8:87755764 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1366C>T (p.Arg456Cys) single nucleotide variant not provided [RCV001952946] Chr8:86629033 [GRCh38]
Chr8:87641261 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1852A>G (p.Thr618Ala) single nucleotide variant not provided [RCV001960253] Chr8:86579182 [GRCh38]
Chr8:87591410 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.223A>T (p.Lys75Ter) single nucleotide variant not provided [RCV001886366] Chr8:86726646 [GRCh38]
Chr8:87738874 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.779G>A (p.Cys260Tyr) single nucleotide variant not provided [RCV001993769] Chr8:86666998 [GRCh38]
Chr8:87679226 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2105del (p.Lys702fs) deletion not provided [RCV001876349] Chr8:86576129 [GRCh38]
Chr8:87588357 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1599_1600dup (p.Tyr534fs) duplication not provided [RCV001881564] Chr8:86611649..86611650 [GRCh38]
Chr8:87623877..87623878 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.839dup (p.Gly281fs) duplication not provided [RCV001938065] Chr8:86666937..86666938 [GRCh38]
Chr8:87679165..87679166 [GRCh37]
Chr8:8q21.3		 pathogenic
NC_000008.10:g.(?_87644960)_(87755855_?)dup duplication not provided [RCV001992896] Chr8:87644960..87755855 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1552A>G (p.Ile518Val) single nucleotide variant not provided [RCV002030026] Chr8:86626009 [GRCh38]
Chr8:87638237 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.41_42dup (p.Gly15Ter) microsatellite not provided [RCV002014808] Chr8:86743585..86743586 [GRCh38]
Chr8:87755813..87755814 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1622A>C (p.Lys541Thr) single nucleotide variant not provided [RCV002009717] Chr8:86611628 [GRCh38]
Chr8:87623856 [GRCh37]
Chr8:8q21.3		 uncertain significance
NC_000008.10:g.(?_87738749)_(87755865_?)del deletion not provided [RCV001953805] Chr8:87738749..87755865 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.904-2A>C single nucleotide variant not provided [RCV002046295] Chr8:86647889 [GRCh38]
Chr8:87660117 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1064G>A (p.Arg355Gln) single nucleotide variant not provided [RCV001918680] Chr8:86643865 [GRCh38]
Chr8:87656093 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.454G>A (p.Glu152Lys) single nucleotide variant not provided [RCV001977376] Chr8:86670983 [GRCh38]
Chr8:87683211 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.948C>A (p.Phe316Leu) single nucleotide variant not provided [RCV001923965] Chr8:86647843 [GRCh38]
Chr8:87660071 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1685A>G (p.Tyr562Cys) single nucleotide variant not provided [RCV001907169] Chr8:86604189 [GRCh38]
Chr8:87616417 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1573T>C (p.Phe525Leu) single nucleotide variant not provided [RCV001980808] Chr8:86625988 [GRCh38]
Chr8:87638216 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.338+6C>A single nucleotide variant not provided [RCV002019176] Chr8:86726525 [GRCh38]
Chr8:87738753 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.643+3A>T single nucleotide variant not provided [RCV002049635] Chr8:86668016 [GRCh38]
Chr8:87680244 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.41T>C (p.Ile14Thr) single nucleotide variant not provided [RCV001994452] Chr8:86743587 [GRCh38]
Chr8:87755815 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.787A>C (p.Ile263Leu) single nucleotide variant not provided [RCV001952058] Chr8:86666990 [GRCh38]
Chr8:87679218 [GRCh37]
Chr8:8q21.3		 uncertain significance
NC_000008.10:g.(?_87588032)_(87683346_?)dup duplication not provided [RCV001937075] Chr8:87588032..87683346 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1340C>A (p.Ala447Glu) single nucleotide variant not provided [RCV001955667] Chr8:86629059 [GRCh38]
Chr8:87641287 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.493+1G>C single nucleotide variant not provided [RCV002016518] Chr8:86670943 [GRCh38]
Chr8:87683171 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1782-3C>T single nucleotide variant not provided [RCV001990314] Chr8:86579255 [GRCh38]
Chr8:87591483 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1549A>C (p.Ser517Arg) single nucleotide variant not provided [RCV002047585] Chr8:86626012 [GRCh38]
Chr8:87638240 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.644-10G>A single nucleotide variant not provided [RCV002075939] Chr8:86667143 [GRCh38]
Chr8:87679371 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1782-4dup duplication not provided [RCV002076099] Chr8:86579255..86579256 [GRCh38]
Chr8:87591483..87591484 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1320+8G>A single nucleotide variant not provided [RCV002190372] Chr8:86632744 [GRCh38]
Chr8:87644972 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1179-9T>C single nucleotide variant not provided [RCV002208572] Chr8:86632902 [GRCh38]
Chr8:87645130 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1480+20G>A single nucleotide variant not provided [RCV002089103] Chr8:86628899 [GRCh38]
Chr8:87641127 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.2103+19T>C single nucleotide variant not provided [RCV002146777] Chr8:86578670 [GRCh38]
Chr8:87590898 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.904-16T>C single nucleotide variant not provided [RCV002207559] Chr8:86647903 [GRCh38]
Chr8:87660131 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1579-6A>G single nucleotide variant not provided [RCV002087783] Chr8:86611677 [GRCh38]
Chr8:87623905 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.493+11C>T single nucleotide variant not provided [RCV002109405] Chr8:86670933 [GRCh38]
Chr8:87683161 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.494-4G>A single nucleotide variant not provided [RCV002209774] Chr8:86668172 [GRCh38]
Chr8:87680400 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1480+19C>A single nucleotide variant not provided [RCV002145889] Chr8:86628900 [GRCh38]
Chr8:87641128 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1440G>A (p.Arg480=) single nucleotide variant not provided [RCV002112526] Chr8:86628959 [GRCh38]
Chr8:87641187 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-20T>C single nucleotide variant not provided [RCV002089891] Chr8:86726677 [GRCh38]
Chr8:87738905 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.888T>G (p.Thr296=) single nucleotide variant not provided [RCV002092698] Chr8:86654027 [GRCh38]
Chr8:87666255 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-23_212-20del microsatellite not provided [RCV002205417] Chr8:86726677..86726680 [GRCh38]
Chr8:87738905..87738908 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.643+14G>A single nucleotide variant not provided [RCV002087972] Chr8:86668005 [GRCh38]
Chr8:87680233 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.660G>A (p.Leu220=) single nucleotide variant not provided [RCV002149198] Chr8:86667117 [GRCh38]
Chr8:87679345 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1818C>T (p.Ala606=) single nucleotide variant not provided [RCV002146236] Chr8:86579216 [GRCh38]
Chr8:87591444 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1695G>A (p.Lys565=) single nucleotide variant not provided [RCV002145394] Chr8:86604179 [GRCh38]
Chr8:87616407 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.198C>T (p.His66=) single nucleotide variant not provided [RCV002126826] Chr8:86739668 [GRCh38]
Chr8:87751896 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.211+15T>G single nucleotide variant not provided [RCV002168449] Chr8:86739640 [GRCh38]
Chr8:87751868 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2149G>T (p.Glu717Ter) single nucleotide variant not provided [RCV002167015] Chr8:86576085 [GRCh38]
Chr8:87588313 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1743G>A (p.Leu581=) single nucleotide variant not provided [RCV002126084] Chr8:86604131 [GRCh38]
Chr8:87616359 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1527C>G (p.Ala509=) single nucleotide variant not provided [RCV002086588] Chr8:86626034 [GRCh38]
Chr8:87638262 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.990+10C>T single nucleotide variant not provided [RCV002071490] Chr8:86647791 [GRCh38]
Chr8:87660019 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.807A>G (p.Leu269=) single nucleotide variant not provided [RCV002146221] Chr8:86666970 [GRCh38]
Chr8:87679198 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.249C>T (p.Thr83=) single nucleotide variant not provided [RCV002092322] Chr8:86726620 [GRCh38]
Chr8:87738848 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.615A>G (p.Lys205=) single nucleotide variant not provided [RCV002169820] Chr8:86668047 [GRCh38]
Chr8:87680275 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.159C>G (p.Leu53=) single nucleotide variant not provided [RCV002146710] Chr8:86739707 [GRCh38]
Chr8:87751935 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-12T>G single nucleotide variant not provided [RCV002117208] Chr8:86726669 [GRCh38]
Chr8:87738897 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.576C>A (p.Val192=) single nucleotide variant not provided [RCV002194074] Chr8:86668086 [GRCh38]
Chr8:87680314 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.933T>C (p.Asp311=) single nucleotide variant not provided [RCV002109233] Chr8:86647858 [GRCh38]
Chr8:87660086 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1578+12T>C single nucleotide variant not provided [RCV002135076] Chr8:86625971 [GRCh38]
Chr8:87638199 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2391G>A (p.Glu797=) single nucleotide variant not provided [RCV002078999] Chr8:86575843 [GRCh38]
Chr8:87588071 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1698T>C (p.His566=) single nucleotide variant not provided [RCV002097231] Chr8:86604176 [GRCh38]
Chr8:87616404 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1416T>G (p.Pro472=) single nucleotide variant not provided [RCV002193011] Chr8:86628983 [GRCh38]
Chr8:87641211 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1618T>C (p.Leu540=) single nucleotide variant not provided [RCV002093721] Chr8:86611632 [GRCh38]
Chr8:87623860 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.96C>T (p.His32=) single nucleotide variant not provided [RCV002216269] Chr8:86743532 [GRCh38]
Chr8:87755760 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-10T>A single nucleotide variant not provided [RCV002149420] Chr8:86726667 [GRCh38]
Chr8:87738895 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.991-16T>G single nucleotide variant not provided [RCV002171473] Chr8:86644702 [GRCh38]
Chr8:87656930 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.978T>C (p.Asn326=) single nucleotide variant not provided [RCV002116767] Chr8:86647813 [GRCh38]
Chr8:87660041 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.537G>A (p.Lys179=) single nucleotide variant not provided [RCV002150964] Chr8:86668125 [GRCh38]
Chr8:87680353 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1579-13T>C single nucleotide variant not provided [RCV002108706] Chr8:86611684 [GRCh38]
Chr8:87623912 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2064T>C (p.Leu688=) single nucleotide variant not provided [RCV002073867] Chr8:86578728 [GRCh38]
Chr8:87590956 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.130-8dup duplication not provided [RCV002128619] Chr8:86739743..86739744 [GRCh38]
Chr8:87751971..87751972 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.1929-17T>C single nucleotide variant not provided [RCV002079473] Chr8:86578880 [GRCh38]
Chr8:87591108 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2104-13T>C single nucleotide variant not provided [RCV002216132] Chr8:86576143 [GRCh38]
Chr8:87588371 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1855C>T (p.Leu619=) single nucleotide variant not provided [RCV002216351] Chr8:86579179 [GRCh38]
Chr8:87591407 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1055+9T>A single nucleotide variant not provided [RCV002165576] Chr8:86644613 [GRCh38]
Chr8:87656841 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.494-9C>T single nucleotide variant not provided [RCV002080080] Chr8:86668177 [GRCh38]
Chr8:87680405 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.643+7T>C single nucleotide variant not provided [RCV002214664] Chr8:86668012 [GRCh38]
Chr8:87680240 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1305C>T (p.Ser435=) single nucleotide variant not provided [RCV002093099] Chr8:86632767 [GRCh38]
Chr8:87644995 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2025G>C (p.Leu675=) single nucleotide variant not provided [RCV002195600] Chr8:86578767 [GRCh38]
Chr8:87590995 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-17G>T single nucleotide variant not provided [RCV002091326] Chr8:86726674 [GRCh38]
Chr8:87738902 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.644-17A>C single nucleotide variant not provided [RCV002115487] Chr8:86667150 [GRCh38]
Chr8:87679378 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1881T>C (p.Ile627=) single nucleotide variant not provided [RCV002106816] Chr8:86579153 [GRCh38]
Chr8:87591381 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1227T>C (p.Gly409=) single nucleotide variant not provided [RCV002191608] Chr8:86632845 [GRCh38]
Chr8:87645073 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1026G>A (p.Glu342=) single nucleotide variant not provided [RCV002133265] Chr8:86644651 [GRCh38]
Chr8:87656879 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1278T>C (p.Asn426=) single nucleotide variant not provided [RCV002166516] Chr8:86632794 [GRCh38]
Chr8:87645022 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-8T>G single nucleotide variant not provided [RCV002097103] Chr8:86726665 [GRCh38]
Chr8:87738893 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.387T>C (p.Asp129=) single nucleotide variant not provided [RCV002151219] Chr8:86671050 [GRCh38]
Chr8:87683278 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.644-13G>T single nucleotide variant not provided [RCV002077410] Chr8:86667146 [GRCh38]
Chr8:87679374 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2104-11G>T single nucleotide variant not provided [RCV002115646] Chr8:86576141 [GRCh38]
Chr8:87588369 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2080T>C (p.Leu694=) single nucleotide variant not provided [RCV002087714] Chr8:86578712 [GRCh38]
Chr8:87590940 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1854T>C (p.Thr618=) single nucleotide variant not provided [RCV002171124] Chr8:86579180 [GRCh38]
Chr8:87591408 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.549T>C (p.His183=) single nucleotide variant not provided [RCV002172810] Chr8:86668113 [GRCh38]
Chr8:87680341 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1797A>C (p.Gly599=) single nucleotide variant not provided [RCV002083072] Chr8:86579237 [GRCh38]
Chr8:87591465 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1321-6T>C single nucleotide variant not provided [RCV002153968] Chr8:86629084 [GRCh38]
Chr8:87641312 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1485G>A (p.Glu495=) single nucleotide variant not provided [RCV002220569] Chr8:86626076 [GRCh38]
Chr8:87638304 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.903+13C>G single nucleotide variant not provided [RCV002100608] Chr8:86653999 [GRCh38]
Chr8:87666227 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.903+9C>A single nucleotide variant not provided [RCV002204144] Chr8:86654003 [GRCh38]
Chr8:87666231 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1579-6A>T single nucleotide variant not provided [RCV002118828] Chr8:86611677 [GRCh38]
Chr8:87623905 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-4A>G single nucleotide variant not provided [RCV002101334] Chr8:86726661 [GRCh38]
Chr8:87738889 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.486A>G (p.Pro162=) single nucleotide variant not provided [RCV002157198] Chr8:86670951 [GRCh38]
Chr8:87683179 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1095C>T (p.His365=) single nucleotide variant not provided [RCV002083152] Chr8:86643834 [GRCh38]
Chr8:87656062 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1481-17T>A single nucleotide variant not provided [RCV002159889] Chr8:86626097 [GRCh38]
Chr8:87638325 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1869C>T (p.Thr623=) single nucleotide variant not provided [RCV002183332] Chr8:86579165 [GRCh38]
Chr8:87591393 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.420T>C (p.Arg140=) single nucleotide variant not provided [RCV002175921] Chr8:86671017 [GRCh38]
Chr8:87683245 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.852+14G>A single nucleotide variant not provided [RCV002098579] Chr8:86666911 [GRCh38]
Chr8:87679139 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1405T>A (p.Tyr469Asn) single nucleotide variant not provided [RCV002103092] Chr8:86628994 [GRCh38]
Chr8:87641222 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.904-10C>T single nucleotide variant not provided [RCV002184315] Chr8:86647897 [GRCh38]
Chr8:87660125 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2430A>G (p.Ter810=) single nucleotide variant not provided [RCV002164635] Chr8:86575804 [GRCh38]
Chr8:87588032 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2244G>A (p.Glu748=) single nucleotide variant not provided [RCV002199504] Chr8:86575990 [GRCh38]
Chr8:87588218 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.211+9G>T single nucleotide variant not provided [RCV002180333] Chr8:86739646 [GRCh38]
Chr8:87751874 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.672T>C (p.Leu224=) single nucleotide variant not provided [RCV002161139] Chr8:86667105 [GRCh38]
Chr8:87679333 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.318C>A (p.Pro106=) single nucleotide variant not provided [RCV002081632] Chr8:86726551 [GRCh38]
Chr8:87738779 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2394T>C (p.Val798=) single nucleotide variant not provided [RCV002219013] Chr8:86575840 [GRCh38]
Chr8:87588068 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1785T>C (p.Leu595=) single nucleotide variant not provided [RCV002083875] Chr8:86579249 [GRCh38]
Chr8:87591477 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2019C>T (p.Pro673=) single nucleotide variant not provided [RCV002123443] Chr8:86578773 [GRCh38]
Chr8:87591001 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.643+8C>G single nucleotide variant not provided [RCV002183031] Chr8:86668011 [GRCh38]
Chr8:87680239 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1929-10T>C single nucleotide variant not provided [RCV002161921] Chr8:86578873 [GRCh38]
Chr8:87591101 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1145C>T (p.Thr382Ile) single nucleotide variant not provided [RCV002122206] Chr8:86643784 [GRCh38]
Chr8:87656012 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.420T>A (p.Arg140=) single nucleotide variant not provided [RCV002204367] Chr8:86671017 [GRCh38]
Chr8:87683245 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.93T>A (p.Ser31=) single nucleotide variant not provided [RCV002199627] Chr8:86743535 [GRCh38]
Chr8:87755763 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1928+15A>C single nucleotide variant not provided [RCV002159639] Chr8:86579091 [GRCh38]
Chr8:87591319 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1686T>C (p.Tyr562=) single nucleotide variant not provided [RCV002199866] Chr8:86604188 [GRCh38]
Chr8:87616416 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1781+13T>C single nucleotide variant not provided [RCV002218937] Chr8:86604080 [GRCh38]
Chr8:87616308 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2382C>T (p.Gly794=) single nucleotide variant not provided [RCV002156277] Chr8:86575852 [GRCh38]
Chr8:87588080 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.336C>T (p.Asn112=) single nucleotide variant not provided [RCV002102325] Chr8:86726533 [GRCh38]
Chr8:87738761 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1321-18C>A single nucleotide variant not provided [RCV002118231] Chr8:86629096 [GRCh38]
Chr8:87641324 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.825C>A (p.Leu275=) single nucleotide variant not provided [RCV002198336] Chr8:86666952 [GRCh38]
Chr8:87679180 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1806C>T (p.Asn602=) single nucleotide variant not provided [RCV002098842] Chr8:86579228 [GRCh38]
Chr8:87591456 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1662+7G>A single nucleotide variant not provided [RCV002200868] Chr8:86611581 [GRCh38]
Chr8:87623809 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1722C>T (p.Gly574=) single nucleotide variant not provided [RCV002203953] Chr8:86604152 [GRCh38]
Chr8:87616380 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.648A>G (p.Arg216=) single nucleotide variant not provided [RCV002181655] Chr8:86667129 [GRCh38]
Chr8:87679357 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.644-20A>G single nucleotide variant not provided [RCV002181781] Chr8:86667153 [GRCh38]
Chr8:87679381 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1218T>C (p.Ile406=) single nucleotide variant not provided [RCV002218161] Chr8:86632854 [GRCh38]
Chr8:87645082 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1321-16A>G single nucleotide variant not provided [RCV002103361] Chr8:86629094 [GRCh38]
Chr8:87641322 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.494-12_494-11dup duplication not provided [RCV002101778] Chr8:86668178..86668179 [GRCh38]
Chr8:87680406..87680407 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.1928+3A>G single nucleotide variant not provided [RCV003112154] Chr8:86579103 [GRCh38]
Chr8:87591331 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1630C>T (p.Leu544Phe) single nucleotide variant not provided [RCV003112931] Chr8:86611620 [GRCh38]
Chr8:87623848 [GRCh37]
Chr8:8q21.3		 uncertain significance
NC_000008.10:g.(?_87738739)_(87738905_?)del deletion not provided [RCV003119951] Chr8:87738739..87738905 [GRCh37]
Chr8:8q21.3		 pathogenic
NC_000008.10:g.(?_87616301)_(87755855_?)del deletion not provided [RCV003119952] Chr8:87616301..87755855 [GRCh37]
Chr8:8q21.3		 pathogenic
NC_000008.10:g.(?_87616311)_(87641316_?)del deletion not provided [RCV003119953] Chr8:87616311..87641316 [GRCh37]
Chr8:8q21.3		 pathogenic
NC_000008.10:g.(?_86053597)_(87755855_?)dup duplication not provided [RCV003119954] Chr8:86053597..87755855 [GRCh37]
Chr8:8q21.2-21.3		 uncertain significance
NC_000008.10:g.(?_87666220)_(87683346_?)dup duplication not provided [RCV003119955] Chr8:87666220..87683346 [GRCh37]
Chr8:8q21.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_019098.5(CNGB3):c.1883T>C (p.Leu628Pro) single nucleotide variant Achromatopsia 3 [RCV002472005] Chr8:86579151 [GRCh38]
Chr8:87591379 [GRCh37]
Chr8:8q21.3		 likely pathogenic
GRCh37/hg19 8q21.2-21.3(chr8:86841155-88126932)x1 copy number loss not provided [RCV002473796] Chr8:86841155..88126932 [GRCh37]
Chr8:8q21.2-21.3		 uncertain significance
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
NM_019098.5(CNGB3):c.1052del (p.Tyr351fs) deletion Achromatopsia 3 [RCV002308083] Chr8:86644625 [GRCh38]
Chr8:87656853 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1025_1026del (p.Glu342fs) microsatellite Achromatopsia 3 [RCV002309543] Chr8:86644651..86644652 [GRCh38]
Chr8:87656879..87656880 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1849_1850del (p.Leu617fs) deletion Achromatopsia 3 [RCV002309813] Chr8:86579184..86579185 [GRCh38]
Chr8:87591412..87591413 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs) deletion Achromatopsia 3 [RCV002308340] Chr8:86626064..86626065 [GRCh38]
Chr8:87638292..87638293 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter) single nucleotide variant Achromatopsia 3 [RCV002307148] Chr8:86611631 [GRCh38]
Chr8:87623859 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.893_897del (p.Thr298fs) deletion Achromatopsia 3 [RCV002306765] Chr8:86654018..86654022 [GRCh38]
Chr8:87666246..87666250 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1405del (p.Tyr469fs) deletion Achromatopsia 3 [RCV002309724] Chr8:86628994 [GRCh38]
Chr8:87641222 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1019_1020del (p.His340fs) deletion Achromatopsia 3 [RCV002309570] Chr8:86644657..86644658 [GRCh38]
Chr8:87656885..87656886 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.269del (p.Asn90fs) deletion Achromatopsia 3 [RCV002310236] Chr8:86726600 [GRCh38]
Chr8:87738828 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.969del (p.Phe323fs) deletion Achromatopsia 3 [RCV002310424] Chr8:86647822 [GRCh38]
Chr8:87660050 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1107T>A (p.Cys369Ter) single nucleotide variant Achromatopsia 3 [RCV002310161] Chr8:86643822 [GRCh38]
Chr8:87656050 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.59_61delinsCTGTCTCTTGTTCTCAT (p.Asn20fs) indel Achromatopsia 3 [RCV002310534] Chr8:86743567..86743569 [GRCh38]
Chr8:87755795..87755797 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter) single nucleotide variant Achromatopsia 3 [RCV002310578] Chr8:86654041 [GRCh38]
Chr8:87666269 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.991-1del deletion not provided [RCV003011901] Chr8:86644687 [GRCh38]
Chr8:87656915 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1677G>A (p.Lys559=) single nucleotide variant not provided [RCV002686300] Chr8:86604197 [GRCh38]
Chr8:87616425 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.787_788del (p.Ile263fs) deletion not provided [RCV003033482] Chr8:86666989..86666990 [GRCh38]
Chr8:87679217..87679218 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.474C>G (p.Pro158=) single nucleotide variant not provided [RCV003095441] Chr8:86670963 [GRCh38]
Chr8:87683191 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2201_2221del (p.Gly734_Lys740del) deletion not provided [RCV002863311] Chr8:86576013..86576033 [GRCh38]
Chr8:87588241..87588261 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1617A>G (p.Arg539=) single nucleotide variant not provided [RCV002815238] Chr8:86611633 [GRCh38]
Chr8:87623861 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2123GAG[1] (p.Gly709del) microsatellite not provided [RCV003095814] Chr8:86576106..86576108 [GRCh38]
Chr8:87588334..87588336 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.494-7T>C single nucleotide variant not provided [RCV003017362] Chr8:86668175 [GRCh38]
Chr8:87680403 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.778T>C (p.Cys260Arg) single nucleotide variant not provided [RCV003035002] Chr8:86666999 [GRCh38]
Chr8:87679227 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.348C>G (p.Asn116Lys) single nucleotide variant not provided [RCV003074188] Chr8:86671089 [GRCh38]
Chr8:87683317 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2342G>C (p.Arg781Pro) single nucleotide variant not provided [RCV003034053] Chr8:86575892 [GRCh38]
Chr8:87588120 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.28A>G (p.Lys10Glu) single nucleotide variant not provided [RCV002755935] Chr8:86743600 [GRCh38]
Chr8:87755828 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.275C>G (p.Ala92Gly) single nucleotide variant not provided [RCV002618826] Chr8:86726594 [GRCh38]
Chr8:87738822 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.129+12A>G single nucleotide variant not provided [RCV002820126] Chr8:86743487 [GRCh38]
Chr8:87755715 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.993C>T (p.Tyr331=) single nucleotide variant not provided [RCV003016673] Chr8:86644684 [GRCh38]
Chr8:87656912 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1593G>C (p.Gln531His) single nucleotide variant not provided [RCV002819982] Chr8:86611657 [GRCh38]
Chr8:87623885 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1810C>A (p.Arg604=) single nucleotide variant not provided [RCV002843536] Chr8:86579224 [GRCh38]
Chr8:87591452 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.644-2del deletion not provided [RCV002908981] Chr8:86667135 [GRCh38]
Chr8:87679363 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1513A>G (p.Thr505Ala) single nucleotide variant not provided [RCV002948222] Chr8:86626048 [GRCh38]
Chr8:87638276 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1030A>G (p.Ile344Val) single nucleotide variant Inborn genetic diseases [RCV002904047]|not provided [RCV002904046] Chr8:86644647 [GRCh38]
Chr8:87656875 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1494G>A (p.Leu498=) single nucleotide variant not provided [RCV002686337] Chr8:86626067 [GRCh38]
Chr8:87638295 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2164G>C (p.Glu722Gln) single nucleotide variant not provided [RCV002815411] Chr8:86576070 [GRCh38]
Chr8:87588298 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2154T>G (p.Asp718Glu) single nucleotide variant not provided [RCV002815412] Chr8:86576080 [GRCh38]
Chr8:87588308 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2037C>T (p.Leu679=) single nucleotide variant not provided [RCV002858686] Chr8:86578755 [GRCh38]
Chr8:87590983 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1929-6C>T single nucleotide variant not provided [RCV002862078] Chr8:86578869 [GRCh38]
Chr8:87591097 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.909T>G (p.Asp303Glu) single nucleotide variant not provided [RCV002681881] Chr8:86647882 [GRCh38]
Chr8:87660110 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1707C>A (p.Val569=) single nucleotide variant not provided [RCV003016396] Chr8:86604167 [GRCh38]
Chr8:87616395 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1697A>G (p.His566Arg) single nucleotide variant not provided [RCV002907857] Chr8:86604177 [GRCh38]
Chr8:87616405 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1177G>A (p.Glu393Lys) single nucleotide variant not provided [RCV003076691] Chr8:86643752 [GRCh38]
Chr8:87655980 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.759G>T (p.Trp253Cys) single nucleotide variant not provided [RCV003017279] Chr8:86667018 [GRCh38]
Chr8:87679246 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.852+16G>T single nucleotide variant not provided [RCV002843115] Chr8:86666909 [GRCh38]
Chr8:87679137 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.991-20T>C single nucleotide variant not provided [RCV002774949] Chr8:86644706 [GRCh38]
Chr8:87656934 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1652_1655del (p.Val551fs) deletion not provided [RCV002842554] Chr8:86611595..86611598 [GRCh38]
Chr8:87623823..87623826 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.783_790dup (p.Tyr264fs) duplication not provided [RCV002842750] Chr8:86666986..86666987 [GRCh38]
Chr8:87679214..87679215 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1928+9T>A single nucleotide variant not provided [RCV003017142] Chr8:86579097 [GRCh38]
Chr8:87591325 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.643+17A>T single nucleotide variant not provided [RCV003075562] Chr8:86668002 [GRCh38]
Chr8:87680230 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.852+6T>C single nucleotide variant not provided [RCV002755247] Chr8:86666919 [GRCh38]
Chr8:87679147 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1209A>G (p.Arg403=) single nucleotide variant not provided [RCV002914196] Chr8:86632863 [GRCh38]
Chr8:87645091 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1763C>T (p.Ser588Leu) single nucleotide variant not provided [RCV003078795] Chr8:86604111 [GRCh38]
Chr8:87616339 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.848T>A (p.Ile283Lys) single nucleotide variant Inborn genetic diseases [RCV002909565]|not provided [RCV002932242] Chr8:86666929 [GRCh38]
Chr8:87679157 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1928+15A>G single nucleotide variant not provided [RCV002824370] Chr8:86579091 [GRCh38]
Chr8:87591319 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1230C>T (p.Gly410=) single nucleotide variant not provided [RCV002825540] Chr8:86632842 [GRCh38]
Chr8:87645070 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.79A>C (p.Asn27His) single nucleotide variant not provided [RCV002640536] Chr8:86743549 [GRCh38]
Chr8:87755777 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.158T>C (p.Leu53Pro) single nucleotide variant not provided [RCV003055425] Chr8:86739708 [GRCh38]
Chr8:87751936 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.886A>T (p.Thr296Ser) single nucleotide variant not provided [RCV003079932] Chr8:86654029 [GRCh38]
Chr8:87666257 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.716G>A (p.Arg239His) single nucleotide variant not provided [RCV003077359] Chr8:86667061 [GRCh38]
Chr8:87679289 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1826T>G (p.Val609Gly) single nucleotide variant not provided [RCV003018016] Chr8:86579208 [GRCh38]
Chr8:87591436 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1837T>C (p.Phe613Leu) single nucleotide variant not provided [RCV002998875] Chr8:86579197 [GRCh38]
Chr8:87591425 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.607C>A (p.Arg203=) single nucleotide variant not provided [RCV003038149] Chr8:86668055 [GRCh38]
Chr8:87680283 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2138G>A (p.Gly713Glu) single nucleotide variant Inborn genetic diseases [RCV002738026] Chr8:86576096 [GRCh38]
Chr8:87588324 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.552C>A (p.Tyr184Ter) single nucleotide variant not provided [RCV002976419] Chr8:86668110 [GRCh38]
Chr8:87680338 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1252T>C (p.Phe418Leu) single nucleotide variant not provided [RCV003017778] Chr8:86632820 [GRCh38]
Chr8:87645048 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.687T>C (p.Tyr229=) single nucleotide variant not provided [RCV002820669] Chr8:86667090 [GRCh38]
Chr8:87679318 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.657C>T (p.Leu219=) single nucleotide variant not provided [RCV002592015] Chr8:86667120 [GRCh38]
Chr8:87679348 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.841G>A (p.Gly281Arg) single nucleotide variant Inborn genetic diseases [RCV002785162] Chr8:86666936 [GRCh38]
Chr8:87679164 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.493+1G>A single nucleotide variant not provided [RCV003054327] Chr8:86670943 [GRCh38]
Chr8:87683171 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1844A>G (p.Asn615Ser) single nucleotide variant Inborn genetic diseases [RCV002979957]|not provided [RCV002979958] Chr8:86579190 [GRCh38]
Chr8:87591418 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2160_2163del (p.Glu722fs) deletion not provided [RCV002659243] Chr8:86576071..86576074 [GRCh38]
Chr8:87588299..87588302 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.48G>A (p.Glu16=) single nucleotide variant not provided [RCV003020414] Chr8:86743580 [GRCh38]
Chr8:87755808 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.930T>G (p.Phe310Leu) single nucleotide variant not provided [RCV003020661] Chr8:86647861 [GRCh38]
Chr8:87660089 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.767C>T (p.Ala256Val) single nucleotide variant not provided [RCV002620209] Chr8:86667010 [GRCh38]
Chr8:87679238 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1179-10G>A single nucleotide variant not provided [RCV003020441] Chr8:86632903 [GRCh38]
Chr8:87645131 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.493+13C>T single nucleotide variant not provided [RCV002658780] Chr8:86670931 [GRCh38]
Chr8:87683159 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.389C>G (p.Ala130Gly) single nucleotide variant not provided [RCV002694776] Chr8:86671048 [GRCh38]
Chr8:87683276 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2103+10T>C single nucleotide variant not provided [RCV002760574] Chr8:86578679 [GRCh38]
Chr8:87590907 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2048_2049del (p.Thr683fs) microsatellite not provided [RCV002695029] Chr8:86578743..86578744 [GRCh38]
Chr8:87590971..87590972 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1178+4A>G single nucleotide variant not provided [RCV002785298] Chr8:86643747 [GRCh38]
Chr8:87655975 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.692G>A (p.Trp231Ter) single nucleotide variant not provided [RCV002760164] Chr8:86667085 [GRCh38]
Chr8:87679313 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.73C>T (p.Arg25Cys) single nucleotide variant not provided [RCV002979304] Chr8:86743555 [GRCh38]
Chr8:87755783 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.529G>A (p.Asp177Asn) single nucleotide variant not provided [RCV002706049] Chr8:86668133 [GRCh38]
Chr8:87680361 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.138C>T (p.Asn46=) single nucleotide variant not provided [RCV002796277] Chr8:86739728 [GRCh38]
Chr8:87751956 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-2A>G single nucleotide variant not provided [RCV002846792] Chr8:86726659 [GRCh38]
Chr8:87738887 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.339-20C>T single nucleotide variant not provided [RCV003080804] Chr8:86671118 [GRCh38]
Chr8:87683346 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1258_1277del (p.Ile420fs) deletion not provided [RCV002820745] Chr8:86632795..86632814 [GRCh38]
Chr8:87645023..87645042 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2168del (p.Asn723fs) deletion not provided [RCV002846584] Chr8:86576066 [GRCh38]
Chr8:87588294 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.686A>G (p.Tyr229Cys) single nucleotide variant not provided [RCV002926737] Chr8:86667091 [GRCh38]
Chr8:87679319 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1887G>A (p.Val629=) single nucleotide variant not provided [RCV002847070] Chr8:86579147 [GRCh38]
Chr8:87591375 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-7T>G single nucleotide variant not provided [RCV002823798] Chr8:86726664 [GRCh38]
Chr8:87738892 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2003C>T (p.Pro668Leu) single nucleotide variant not provided [RCV003084011] Chr8:86578789 [GRCh38]
Chr8:87591017 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.853-8T>C single nucleotide variant not provided [RCV002627236] Chr8:86654070 [GRCh38]
Chr8:87666298 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.338+1G>A single nucleotide variant not provided [RCV002745905] Chr8:86726530 [GRCh38]
Chr8:87738758 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1404T>C (p.Asn468=) single nucleotide variant not provided [RCV002875671] Chr8:86628995 [GRCh38]
Chr8:87641223 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2358C>T (p.Ile786=) single nucleotide variant not provided [RCV003007821] Chr8:86575876 [GRCh38]
Chr8:87588104 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.129+8C>T single nucleotide variant not provided [RCV002875765] Chr8:86743491 [GRCh38]
Chr8:87755719 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.513A>G (p.Pro171=) single nucleotide variant not provided [RCV003043700] Chr8:86668149 [GRCh38]
Chr8:87680377 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1055+15A>C single nucleotide variant not provided [RCV003043667] Chr8:86644607 [GRCh38]
Chr8:87656835 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.29A>G (p.Lys10Arg) single nucleotide variant not provided [RCV003082303] Chr8:86743599 [GRCh38]
Chr8:87755827 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.864T>C (p.Asn288=) single nucleotide variant not provided [RCV002595834] Chr8:86654051 [GRCh38]
Chr8:87666279 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1956C>G (p.Thr652=) single nucleotide variant not provided [RCV002872669] Chr8:86578836 [GRCh38]
Chr8:87591064 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.542C>T (p.Thr181Ile) single nucleotide variant not provided [RCV002623355] Chr8:86668120 [GRCh38]
Chr8:87680348 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2280T>C (p.Pro760=) single nucleotide variant not provided [RCV002645650] Chr8:86575954 [GRCh38]
Chr8:87588182 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.723C>T (p.Val241=) single nucleotide variant not provided [RCV003084521] Chr8:86667054 [GRCh38]
Chr8:87679282 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.121A>G (p.Thr41Ala) single nucleotide variant not provided [RCV003042828] Chr8:86743507 [GRCh38]
Chr8:87755735 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.776T>A (p.Ile259Lys) single nucleotide variant not provided [RCV002890289] Chr8:86667001 [GRCh38]
Chr8:87679229 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2070A>G (p.Arg690=) single nucleotide variant not provided [RCV003006035] Chr8:86578722 [GRCh38]
Chr8:87590950 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2020A>G (p.Lys674Glu) single nucleotide variant not provided [RCV003082493] Chr8:86578772 [GRCh38]
Chr8:87591000 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.425G>A (p.Arg142Lys) single nucleotide variant Inborn genetic diseases [RCV002803529] Chr8:86671012 [GRCh38]
Chr8:87683240 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2326C>T (p.Pro776Ser) single nucleotide variant not provided [RCV002766146] Chr8:86575908 [GRCh38]
Chr8:87588136 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1440_1480+10del deletion not provided [RCV002642547] Chr8:86628909..86628959 [GRCh38]
Chr8:87641137..87641187 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.644-3C>T single nucleotide variant not provided [RCV002957489] Chr8:86667136 [GRCh38]
Chr8:87679364 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.493+14C>T single nucleotide variant not provided [RCV003083693] Chr8:86670930 [GRCh38]
Chr8:87683158 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2098G>C (p.Ala700Pro) single nucleotide variant not provided [RCV002623403] Chr8:86578694 [GRCh38]
Chr8:87590922 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.839G>A (p.Gly280Glu) single nucleotide variant Inborn genetic diseases [RCV002850320] Chr8:86666938 [GRCh38]
Chr8:87679166 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1055+8A>G single nucleotide variant not provided [RCV002954018] Chr8:86644614 [GRCh38]
Chr8:87656842 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2218A>G (p.Lys740Glu) single nucleotide variant not provided [RCV002596015] Chr8:86576016 [GRCh38]
Chr8:87588244 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.396A>G (p.Leu132=) single nucleotide variant not provided [RCV003059085] Chr8:86671041 [GRCh38]
Chr8:87683269 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.878A>C (p.His293Pro) single nucleotide variant not provided [RCV002700870] Chr8:86654037 [GRCh38]
Chr8:87666265 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2312_2313del (p.Arg771fs) deletion not provided [RCV002853079] Chr8:86575921..86575922 [GRCh38]
Chr8:87588149..87588150 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1662+2T>C single nucleotide variant not provided [RCV003041558] Chr8:86611586 [GRCh38]
Chr8:87623814 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.629T>C (p.Ile210Thr) single nucleotide variant not provided [RCV002663684] Chr8:86668033 [GRCh38]
Chr8:87680261 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.339-10T>C single nucleotide variant not provided [RCV002853141] Chr8:86671108 [GRCh38]
Chr8:87683336 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1386C>T (p.Thr462=) single nucleotide variant not provided [RCV002791361] Chr8:86629013 [GRCh38]
Chr8:87641241 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2103+14G>A single nucleotide variant not provided [RCV002666899] Chr8:86578675 [GRCh38]
Chr8:87590903 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1578+5G>C single nucleotide variant not provided [RCV002830205] Chr8:86625978 [GRCh38]
Chr8:87638206 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.339C>A (p.Ser113Arg) single nucleotide variant not provided [RCV002801641] Chr8:86671098 [GRCh38]
Chr8:87683326 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.797A>G (p.Tyr266Cys) single nucleotide variant not provided [RCV003082484] Chr8:86666980 [GRCh38]
Chr8:87679208 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.991-13C>T single nucleotide variant not provided [RCV002664019] Chr8:86644699 [GRCh38]
Chr8:87656927 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.339-9C>T single nucleotide variant not provided [RCV003023434] Chr8:86671107 [GRCh38]
Chr8:87683335 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.76C>T (p.Arg26Trp) single nucleotide variant not provided [RCV003085465] Chr8:86743552 [GRCh38]
Chr8:87755780 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1964C>T (p.Ala655Val) single nucleotide variant not provided [RCV002596241] Chr8:86578828 [GRCh38]
Chr8:87591056 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.644-12C>G single nucleotide variant not provided [RCV002852048] Chr8:86667145 [GRCh38]
Chr8:87679373 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1320+8G>T single nucleotide variant not provided [RCV003057881] Chr8:86632744 [GRCh38]
Chr8:87644972 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.473C>A (p.Pro158His) single nucleotide variant not provided [RCV002721149] Chr8:86670964 [GRCh38]
Chr8:87683192 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1838T>C (p.Phe613Ser) single nucleotide variant not provided [RCV003031841] Chr8:86579196 [GRCh38]
Chr8:87591424 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.852+13C>T single nucleotide variant not provided [RCV002651886] Chr8:86666912 [GRCh38]
Chr8:87679140 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.16A>T (p.Thr6Ser) single nucleotide variant not provided [RCV002721161] Chr8:86743612 [GRCh38]
Chr8:87755840 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2257A>G (p.Arg753Gly) single nucleotide variant not provided [RCV002676674] Chr8:86575977 [GRCh38]
Chr8:87588205 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.563T>C (p.Leu188Ser) single nucleotide variant not provided [RCV002633052] Chr8:86668099 [GRCh38]
Chr8:87680327 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.398A>C (p.His133Pro) single nucleotide variant not provided [RCV003064388] Chr8:86671039 [GRCh38]
Chr8:87683267 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.945C>G (p.Leu315=) single nucleotide variant not provided [RCV002876933] Chr8:86647846 [GRCh38]
Chr8:87660074 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.254A>G (p.Asn85Ser) single nucleotide variant not provided [RCV002650530] Chr8:86726615 [GRCh38]
Chr8:87738843 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2269A>G (p.Thr757Ala) single nucleotide variant not provided [RCV003065590] Chr8:86575965 [GRCh38]
Chr8:87588193 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1872C>G (p.Leu624=) single nucleotide variant not provided [RCV002597932] Chr8:86579162 [GRCh38]
Chr8:87591390 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1758T>G (p.Ala586=) single nucleotide variant not provided [RCV003009597] Chr8:86604116 [GRCh38]
Chr8:87616344 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1273T>C (p.Leu425=) single nucleotide variant not provided [RCV003010296] Chr8:86632799 [GRCh38]
Chr8:87645027 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.882C>T (p.Tyr294=) single nucleotide variant not provided [RCV003011309] Chr8:86654033 [GRCh38]
Chr8:87666261 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.701G>C (p.Cys234Ser) single nucleotide variant Inborn genetic diseases [RCV002831665] Chr8:86667076 [GRCh38]
Chr8:87679304 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1868C>T (p.Thr623Ile) single nucleotide variant not provided [RCV003089400] Chr8:86579166 [GRCh38]
Chr8:87591394 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1047T>C (p.Tyr349=) single nucleotide variant not provided [RCV002579261] Chr8:86644630 [GRCh38]
Chr8:87656858 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1166G>A (p.Gly389Glu) single nucleotide variant not provided [RCV002598944] Chr8:86643763 [GRCh38]
Chr8:87655991 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.182C>T (p.Thr61Met) single nucleotide variant not provided [RCV003063275] Chr8:86739684 [GRCh38]
Chr8:87751912 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.403C>G (p.Leu135Val) single nucleotide variant not provided [RCV003061471] Chr8:86671034 [GRCh38]
Chr8:87683262 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2395del (p.Thr800fs) deletion not provided [RCV002937706] Chr8:86575839 [GRCh38]
Chr8:87588067 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1338A>G (p.Gly446=) single nucleotide variant not provided [RCV002671687] Chr8:86629061 [GRCh38]
Chr8:87641289 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.92C>G (p.Ser31Cys) single nucleotide variant not provided [RCV002576989] Chr8:86743536 [GRCh38]
Chr8:87755764 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.500C>T (p.Pro167Leu) single nucleotide variant Inborn genetic diseases [RCV003274269]|not provided [RCV002627923] Chr8:86668162 [GRCh38]
Chr8:87680390 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1826T>C (p.Val609Ala) single nucleotide variant not provided [RCV002600065] Chr8:86579208 [GRCh38]
Chr8:87591436 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1530C>T (p.Leu510=) single nucleotide variant not provided [RCV003090675] Chr8:86626031 [GRCh38]
Chr8:87638259 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1233T>A (p.Leu411=) single nucleotide variant not provided [RCV002895775] Chr8:86632839 [GRCh38]
Chr8:87645067 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.243T>C (p.Asp81=) single nucleotide variant not provided [RCV003030611] Chr8:86726626 [GRCh38]
Chr8:87738854 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1817C>A (p.Ala606Asp) single nucleotide variant not provided [RCV002716964] Chr8:86579217 [GRCh38]
Chr8:87591445 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1508C>A (p.Pro503Gln) single nucleotide variant not provided [RCV002627996] Chr8:86626053 [GRCh38]
Chr8:87638281 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.583del (p.Met195fs) deletion not provided [RCV002857023] Chr8:86668079 [GRCh38]
Chr8:87680307 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2071C>G (p.Leu691Val) single nucleotide variant not provided [RCV002811577] Chr8:86578721 [GRCh38]
Chr8:87590949 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.904-11T>C single nucleotide variant not provided [RCV003060404] Chr8:86647898 [GRCh38]
Chr8:87660126 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1249_1250del (p.Leu417fs) deletion not provided [RCV003048565] Chr8:86632822..86632823 [GRCh38]
Chr8:87645050..87645051 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2124del (p.Gly709fs) deletion not provided [RCV003044922] Chr8:86576110 [GRCh38]
Chr8:87588338 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.844G>A (p.Asp282Asn) single nucleotide variant not provided [RCV002650843] Chr8:86666933 [GRCh38]
Chr8:87679161 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2310T>C (p.Val770=) single nucleotide variant not provided [RCV002810690] Chr8:86575924 [GRCh38]
Chr8:87588152 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2199A>G (p.Lys733=) single nucleotide variant not provided [RCV002716584] Chr8:86576035 [GRCh38]
Chr8:87588263 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1455T>C (p.Tyr485=) single nucleotide variant not provided [RCV002671686] Chr8:86628944 [GRCh38]
Chr8:87641172 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2200G>A (p.Gly734Arg) single nucleotide variant not provided [RCV002601336] Chr8:86576034 [GRCh38]
Chr8:87588262 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1216A>G (p.Ile406Val) single nucleotide variant not provided [RCV002602672] Chr8:86632856 [GRCh38]
Chr8:87645084 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1957G>A (p.Ala653Thr) single nucleotide variant not provided [RCV003062169] Chr8:86578835 [GRCh38]
Chr8:87591063 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1821T>A (p.Asn607Lys) single nucleotide variant not provided [RCV002834738] Chr8:86579213 [GRCh38]
Chr8:87591441 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2103+1G>T single nucleotide variant not provided [RCV002857441] Chr8:86578688 [GRCh38]
Chr8:87590916 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.2058A>T (p.Ala686=) single nucleotide variant not provided [RCV002600735] Chr8:86578734 [GRCh38]
Chr8:87590962 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.65A>G (p.Gln22Arg) single nucleotide variant Inborn genetic diseases [RCV002878529] Chr8:86743563 [GRCh38]
Chr8:87755791 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1084T>A (p.Phe362Ile) single nucleotide variant not provided [RCV002670864] Chr8:86643845 [GRCh38]
Chr8:87656073 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.156T>C (p.Ser52=) single nucleotide variant not provided [RCV002898577] Chr8:86739710 [GRCh38]
Chr8:87751938 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1479A>C (p.Leu493=) single nucleotide variant not provided [RCV002599979] Chr8:86628920 [GRCh38]
Chr8:87641148 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1639C>T (p.Pro547Ser) single nucleotide variant not provided [RCV003089384] Chr8:86611611 [GRCh38]
Chr8:87623839 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.211+19A>G single nucleotide variant not provided [RCV002634065] Chr8:86739636 [GRCh38]
Chr8:87751864 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1321-12T>C single nucleotide variant not provided [RCV003092367] Chr8:86629090 [GRCh38]
Chr8:87641318 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1807C>T (p.Arg603Cys) single nucleotide variant not provided [RCV003066943] Chr8:86579227 [GRCh38]
Chr8:87591455 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.493+7A>G single nucleotide variant not provided [RCV003051671] Chr8:86670937 [GRCh38]
Chr8:87683165 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.954G>T (p.Gly318=) single nucleotide variant not provided [RCV002654074] Chr8:86647837 [GRCh38]
Chr8:87660065 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.530A>G (p.Asp177Gly) single nucleotide variant not provided [RCV002814336] Chr8:86668132 [GRCh38]
Chr8:87680360 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1537G>T (p.Asp513Tyr) single nucleotide variant not provided [RCV003066922] Chr8:86626024 [GRCh38]
Chr8:87638252 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.418C>T (p.Arg140Cys) single nucleotide variant not provided [RCV003068594] Chr8:86671019 [GRCh38]
Chr8:87683247 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.529G>C (p.Asp177His) single nucleotide variant not provided [RCV003069533] Chr8:86668133 [GRCh38]
Chr8:87680361 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.494-18T>A single nucleotide variant not provided [RCV003092238] Chr8:86668186 [GRCh38]
Chr8:87680414 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.221C>A (p.Ser74Tyr) single nucleotide variant not provided [RCV003072562] Chr8:86726648 [GRCh38]
Chr8:87738876 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.187G>A (p.Glu63Lys) single nucleotide variant not provided [RCV002634731] Chr8:86739679 [GRCh38]
Chr8:87751907 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.884G>A (p.Arg295Lys) single nucleotide variant not provided [RCV003070424] Chr8:86654031 [GRCh38]
Chr8:87666259 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2034T>C (p.Thr678=) single nucleotide variant not provided [RCV003051844] Chr8:86578758 [GRCh38]
Chr8:87590986 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.77G>A (p.Arg26Gln) single nucleotide variant not provided [RCV002610112] Chr8:86743551 [GRCh38]
Chr8:87755779 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.30G>A (p.Lys10=) single nucleotide variant not provided [RCV003069541] Chr8:86743598 [GRCh38]
Chr8:87755826 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.852+4A>G single nucleotide variant not provided [RCV002943848] Chr8:86666921 [GRCh38]
Chr8:87679149 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1130A>G (p.Tyr377Cys) single nucleotide variant not provided [RCV003073324] Chr8:86643799 [GRCh38]
Chr8:87656027 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2181A>G (p.Gln727=) single nucleotide variant not provided [RCV003050975] Chr8:86576053 [GRCh38]
Chr8:87588281 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.339-10del deletion not provided [RCV003071461] Chr8:86671108 [GRCh38]
Chr8:87683336 [GRCh37]
Chr8:8q21.3		 benign
NM_019098.5(CNGB3):c.353del (p.Pro118fs) deletion not provided [RCV002611288] Chr8:86671084 [GRCh38]
Chr8:87683312 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.237T>C (p.Ser79=) single nucleotide variant not provided [RCV003051607] Chr8:86726632 [GRCh38]
Chr8:87738860 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2007A>C (p.Lys669Asn) single nucleotide variant not provided [RCV003070021] Chr8:86578785 [GRCh38]
Chr8:87591013 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.2399C>T (p.Thr800Ile) single nucleotide variant not provided [RCV002589395] Chr8:86575835 [GRCh38]
Chr8:87588063 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1793C>A (p.Ala598Glu) single nucleotide variant not provided [RCV003070124] Chr8:86579241 [GRCh38]
Chr8:87591469 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.480C>G (p.Ala160=) single nucleotide variant not provided [RCV003070150] Chr8:86670957 [GRCh38]
Chr8:87683185 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2275A>C (p.Ser759Arg) single nucleotide variant not provided [RCV002587759] Chr8:86575959 [GRCh38]
Chr8:87588187 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1659A>G (p.Lys553=) single nucleotide variant not provided [RCV003066104] Chr8:86611591 [GRCh38]
Chr8:87623819 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.878A>T (p.His293Leu) single nucleotide variant not provided [RCV002612362] Chr8:86654037 [GRCh38]
Chr8:87666265 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.906G>A (p.Leu302=) single nucleotide variant not provided [RCV002607011] Chr8:86647885 [GRCh38]
Chr8:87660113 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.585G>A (p.Met195Ile) single nucleotide variant not provided [RCV003050853] Chr8:86668077 [GRCh38]
Chr8:87680305 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1663G>A (p.Gly555Arg) single nucleotide variant Inborn genetic diseases [RCV003204710] Chr8:86604211 [GRCh38]
Chr8:87616439 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1595T>C (p.Met532Thr) single nucleotide variant Inborn genetic diseases [RCV003282418] Chr8:86611655 [GRCh38]
Chr8:87623883 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1131T>G (p.Tyr377Ter) single nucleotide variant Achromatopsia 3 [RCV003141494] Chr8:86643798 [GRCh38]
Chr8:87656026 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1216dup (p.Ile406fs) duplication not provided [RCV003569548] Chr8:86632855..86632856 [GRCh38]
Chr8:87645083..87645084 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.2158del (p.Gln720fs) deletion not provided [RCV003571474] Chr8:86576076 [GRCh38]
Chr8:87588304 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.783T>C (p.Asp261=) single nucleotide variant not provided [RCV003569597] Chr8:86666994 [GRCh38]
Chr8:87679222 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.903+11A>C single nucleotide variant not provided [RCV003569686] Chr8:86654001 [GRCh38]
Chr8:87666229 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1860C>T (p.Asp620=) single nucleotide variant not provided [RCV003543377] Chr8:86579174 [GRCh38]
Chr8:87591402 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1480+8T>C single nucleotide variant not provided [RCV003873659] Chr8:86628911 [GRCh38]
Chr8:87641139 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1542G>A (p.Val514=) single nucleotide variant not provided [RCV003570852] Chr8:86626019 [GRCh38]
Chr8:87638247 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1578+18del deletion not provided [RCV003543181] Chr8:86625965 [GRCh38]
Chr8:87638193 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1899T>C (p.Asp633=) single nucleotide variant not provided [RCV003543480] Chr8:86579135 [GRCh38]
Chr8:87591363 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1669dup (p.Ile557fs) duplication not provided [RCV003571115] Chr8:86604204..86604205 [GRCh38]
Chr8:87616432..87616433 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.139A>T (p.Lys47Ter) single nucleotide variant not provided [RCV003569808] Chr8:86739727 [GRCh38]
Chr8:87751955 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.324A>G (p.Lys108=) single nucleotide variant not provided [RCV003872806] Chr8:86726545 [GRCh38]
Chr8:87738773 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2048C>G (p.Thr683Arg) single nucleotide variant not provided [RCV003569312] Chr8:86578744 [GRCh38]
Chr8:87590972 [GRCh37]
Chr8:8q21.3		 uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3		 pathogenic
GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1 copy number loss not provided [RCV003483032] Chr8:84127576..98263585 [GRCh37]
Chr8:8q21.13-22.1		 pathogenic
GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1 copy number loss not provided [RCV003483033] Chr8:86955187..94955826 [GRCh37]
Chr8:8q21.3-22.1		 uncertain significance
NM_019098.5(CNGB3):c.1182T>C (p.Tyr394=) single nucleotide variant not provided [RCV003826591] Chr8:86632890 [GRCh38]
Chr8:87645118 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1059T>C (p.Val353=) single nucleotide variant not provided [RCV003691996] Chr8:86643870 [GRCh38]
Chr8:87656098 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.644-19C>T single nucleotide variant not provided [RCV003849263] Chr8:86667152 [GRCh38]
Chr8:87679380 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.981G>A (p.Arg327=) single nucleotide variant not provided [RCV003831793] Chr8:86647810 [GRCh38]
Chr8:87660038 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1155G>A (p.Trp385Ter) single nucleotide variant Achromatopsia 3 [RCV003486515] Chr8:86643774 [GRCh38]
Chr8:87656002 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.853-18A>C single nucleotide variant not provided [RCV003740259] Chr8:86654080 [GRCh38]
Chr8:87666308 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.345A>G (p.Gln115=) single nucleotide variant not provided [RCV003713718] Chr8:86671092 [GRCh38]
Chr8:87683320 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2073A>G (p.Leu691=) single nucleotide variant not provided [RCV003573138] Chr8:86578719 [GRCh38]
Chr8:87590947 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.853-9A>G single nucleotide variant not provided [RCV003687938] Chr8:86654071 [GRCh38]
Chr8:87666299 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1178+11A>T single nucleotide variant not provided [RCV003576994] Chr8:86643740 [GRCh38]
Chr8:87655968 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1178+7T>C single nucleotide variant not provided [RCV003577606] Chr8:86643744 [GRCh38]
Chr8:87655972 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1662+10T>C single nucleotide variant not provided [RCV003547658] Chr8:86611578 [GRCh38]
Chr8:87623806 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1179-15C>A single nucleotide variant not provided [RCV003695562] Chr8:86632908 [GRCh38]
Chr8:87645136 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1449T>C (p.Tyr483=) single nucleotide variant not provided [RCV003686507] Chr8:86628950 [GRCh38]
Chr8:87641178 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1504C>T (p.Leu502=) single nucleotide variant not provided [RCV003695641] Chr8:86626057 [GRCh38]
Chr8:87638285 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1929-15CT[2] microsatellite not provided [RCV003576246] Chr8:86578873..86578874 [GRCh38]
Chr8:87591101..87591102 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1050_1051del (p.Tyr351fs) deletion not provided [RCV003824839] Chr8:86644626..86644627 [GRCh38]
Chr8:87656854..87656855 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1781+14A>G single nucleotide variant not provided [RCV003830830] Chr8:86604079 [GRCh38]
Chr8:87616307 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1056-4A>G single nucleotide variant not provided [RCV003545285] Chr8:86643877 [GRCh38]
Chr8:87656105 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.129+1del deletion not provided [RCV003714225] Chr8:86743498 [GRCh38]
Chr8:87755726 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.493+1G>T single nucleotide variant not provided [RCV003691235] Chr8:86670943 [GRCh38]
Chr8:87683171 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.2301C>T (p.Pro767=) single nucleotide variant not provided [RCV003578305] Chr8:86575933 [GRCh38]
Chr8:87588161 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1481-19T>C single nucleotide variant not provided [RCV003576783] Chr8:86626099 [GRCh38]
Chr8:87638327 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1519C>T (p.Gln507Ter) single nucleotide variant not provided [RCV003572443] Chr8:86626042 [GRCh38]
Chr8:87638270 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.643+19T>C single nucleotide variant not provided [RCV003572561] Chr8:86668000 [GRCh38]
Chr8:87680228 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1179-19A>G single nucleotide variant not provided [RCV003739178] Chr8:86632912 [GRCh38]
Chr8:87645140 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2103+10T>G single nucleotide variant not provided [RCV003573768] Chr8:86578679 [GRCh38]
Chr8:87590907 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.903+13C>A single nucleotide variant not provided [RCV003738553] Chr8:86653999 [GRCh38]
Chr8:87666227 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1781+20T>C single nucleotide variant not provided [RCV003713721] Chr8:86604073 [GRCh38]
Chr8:87616301 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1125A>G (p.Ser375=) single nucleotide variant not provided [RCV003877811] Chr8:86643804 [GRCh38]
Chr8:87656032 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2199dup (p.Gly734fs) duplication not provided [RCV003714350] Chr8:86576034..86576035 [GRCh38]
Chr8:87588262..87588263 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1480+2T>C single nucleotide variant not provided [RCV003686911] Chr8:86628917 [GRCh38]
Chr8:87641145 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1480+7A>T single nucleotide variant not provided [RCV003544236] Chr8:86628912 [GRCh38]
Chr8:87641140 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1056-12del deletion not provided [RCV003660211] Chr8:86643885 [GRCh38]
Chr8:87656113 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.639_643+42del deletion not provided [RCV003716072] Chr8:86667977..86668023 [GRCh38]
Chr8:87680205..87680251 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1092G>C (p.Leu364=) single nucleotide variant not provided [RCV003693099] Chr8:86643837 [GRCh38]
Chr8:87656065 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1480+14A>G single nucleotide variant not provided [RCV003714588] Chr8:86628905 [GRCh38]
Chr8:87641133 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.255C>T (p.Asn85=) single nucleotide variant not provided [RCV003662026] Chr8:86726614 [GRCh38]
Chr8:87738842 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.643+1G>A single nucleotide variant not provided [RCV003714784] Chr8:86668018 [GRCh38]
Chr8:87680246 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1749T>C (p.Thr583=) single nucleotide variant not provided [RCV003571990] Chr8:86604125 [GRCh38]
Chr8:87616353 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1781+19A>T single nucleotide variant not provided [RCV003712758] Chr8:86604074 [GRCh38]
Chr8:87616302 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1254T>C (p.Phe418=) single nucleotide variant not provided [RCV003693282] Chr8:86632818 [GRCh38]
Chr8:87645046 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2128G>T (p.Glu710Ter) single nucleotide variant not provided [RCV003544122] Chr8:86576106 [GRCh38]
Chr8:87588334 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.494-10C>T single nucleotide variant not provided [RCV003573449] Chr8:86668178 [GRCh38]
Chr8:87680406 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1321-18C>G single nucleotide variant not provided [RCV003876105] Chr8:86629096 [GRCh38]
Chr8:87641324 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.466T>G (p.Ser156Ala) single nucleotide variant not provided [RCV003687891] Chr8:86670971 [GRCh38]
Chr8:87683199 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.1320+8G>C single nucleotide variant not provided [RCV003544200] Chr8:86632744 [GRCh38]
Chr8:87644972 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.990+20T>C single nucleotide variant not provided [RCV003549630] Chr8:86647781 [GRCh38]
Chr8:87660009 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.405G>T (p.Leu135=) single nucleotide variant not provided [RCV003699519] Chr8:86671032 [GRCh38]
Chr8:87683260 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.991-1G>A single nucleotide variant not provided [RCV003664481] Chr8:86644687 [GRCh38]
Chr8:87656915 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.531T>C (p.Asp177=) single nucleotide variant not provided [RCV003835411] Chr8:86668131 [GRCh38]
Chr8:87680359 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.853-11A>C single nucleotide variant not provided [RCV003832260] Chr8:86654073 [GRCh38]
Chr8:87666301 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1178+10G>A single nucleotide variant not provided [RCV003664752] Chr8:86643741 [GRCh38]
Chr8:87655969 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1530C>A (p.Leu510=) single nucleotide variant not provided [RCV003697264] Chr8:86626031 [GRCh38]
Chr8:87638259 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1432C>A (p.Arg478=) single nucleotide variant not provided [RCV003832430] Chr8:86628967 [GRCh38]
Chr8:87641195 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.991-6A>C single nucleotide variant not provided [RCV003855947] Chr8:86644692 [GRCh38]
Chr8:87656920 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1056-1G>A single nucleotide variant not provided [RCV003702920] Chr8:86643874 [GRCh38]
Chr8:87656102 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1932G>A (p.Val644=) single nucleotide variant not provided [RCV003855519] Chr8:86578860 [GRCh38]
Chr8:87591088 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1578+7G>T single nucleotide variant not provided [RCV003726528] Chr8:86625976 [GRCh38]
Chr8:87638204 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.494-19_494-18insG insertion not provided [RCV003855746] Chr8:86668186..86668187 [GRCh38]
Chr8:87680414..87680415 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.339-18A>G single nucleotide variant not provided [RCV003562048] Chr8:86671116 [GRCh38]
Chr8:87683344 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.643+8C>T single nucleotide variant not provided [RCV003852508] Chr8:86668011 [GRCh38]
Chr8:87680239 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1781+15C>G single nucleotide variant not provided [RCV003659412] Chr8:86604078 [GRCh38]
Chr8:87616306 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.300G>A (p.Glu100=) single nucleotide variant not provided [RCV003702949] Chr8:86726569 [GRCh38]
Chr8:87738797 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1167G>A (p.Gly389=) single nucleotide variant not provided [RCV003723468] Chr8:86643762 [GRCh38]
Chr8:87655990 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2376T>C (p.Ala792=) single nucleotide variant not provided [RCV003672402] Chr8:86575858 [GRCh38]
Chr8:87588086 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2132AAG[1] (p.Glu712del) microsatellite not provided [RCV003558975] Chr8:86576097..86576099 [GRCh38]
Chr8:87588325..87588327 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1943del (p.Gln648fs) deletion not provided [RCV003723926] Chr8:86578849 [GRCh38]
Chr8:87591077 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1055+2T>A single nucleotide variant not provided [RCV003700796] Chr8:86644620 [GRCh38]
Chr8:87656848 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1056-13T>C single nucleotide variant not provided [RCV003548608] Chr8:86643886 [GRCh38]
Chr8:87656114 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1194T>C (p.Tyr398=) single nucleotide variant not provided [RCV003700802] Chr8:86632878 [GRCh38]
Chr8:87645106 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.991-13del deletion not provided [RCV003670012] Chr8:86644699 [GRCh38]
Chr8:87656927 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.273A>T (p.Ala91=) single nucleotide variant not provided [RCV003698477] Chr8:86726596 [GRCh38]
Chr8:87738824 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.903+1G>C single nucleotide variant not provided [RCV003703744] Chr8:86654011 [GRCh38]
Chr8:87666239 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.211+11A>G single nucleotide variant not provided [RCV003562097] Chr8:86739644 [GRCh38]
Chr8:87751872 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2103+2T>C single nucleotide variant not provided [RCV003562105] Chr8:86578687 [GRCh38]
Chr8:87590915 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1178+20G>T single nucleotide variant not provided [RCV003557996] Chr8:86643731 [GRCh38]
Chr8:87655959 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.212-11T>C single nucleotide variant not provided [RCV003673107] Chr8:86726668 [GRCh38]
Chr8:87738896 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1437T>C (p.Val479=) single nucleotide variant not provided [RCV003668750] Chr8:86628962 [GRCh38]
Chr8:87641190 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1578+17T>C single nucleotide variant not provided [RCV003674079] Chr8:86625966 [GRCh38]
Chr8:87638194 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.643+14G>C single nucleotide variant not provided [RCV003560824] Chr8:86668005 [GRCh38]
Chr8:87680233 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.644-12C>T single nucleotide variant not provided [RCV003816377] Chr8:86667145 [GRCh38]
Chr8:87679373 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.447G>A (p.Lys149=) single nucleotide variant not provided [RCV003855101] Chr8:86670990 [GRCh38]
Chr8:87683218 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1928+20A>G single nucleotide variant not provided [RCV003557997] Chr8:86579086 [GRCh38]
Chr8:87591314 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.338+15A>G single nucleotide variant not provided [RCV003837572] Chr8:86726516 [GRCh38]
Chr8:87738744 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.129+20A>G single nucleotide variant not provided [RCV003702708] Chr8:86743479 [GRCh38]
Chr8:87755707 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.130-16_130-15del deletion not provided [RCV003725036] Chr8:86739751..86739752 [GRCh38]
Chr8:87751979..87751980 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.903+18T>G single nucleotide variant not provided [RCV003839457] Chr8:86653994 [GRCh38]
Chr8:87666222 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1071T>G (p.Thr357=) single nucleotide variant not provided [RCV003816937] Chr8:86643858 [GRCh38]
Chr8:87656086 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.852+4751A>G single nucleotide variant not provided [RCV003701246] Chr8:86662174 [GRCh38]
Chr8:87674402 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.991-12T>C single nucleotide variant not provided [RCV003668572] Chr8:86644698 [GRCh38]
Chr8:87656926 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.489A>G (p.Gln163=) single nucleotide variant not provided [RCV003673581] Chr8:86670948 [GRCh38]
Chr8:87683176 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1928+18C>G single nucleotide variant not provided [RCV003669738] Chr8:86579088 [GRCh38]
Chr8:87591316 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.852+11T>C single nucleotide variant not provided [RCV003672329] Chr8:86666914 [GRCh38]
Chr8:87679142 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1320+14G>C single nucleotide variant not provided [RCV003670190] Chr8:86632738 [GRCh38]
Chr8:87644966 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1574_1575del (p.Leu524_Phe525insTer) deletion not provided [RCV003837726] Chr8:86625986..86625987 [GRCh38]
Chr8:87638214..87638215 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1014T>C (p.Asn338=) single nucleotide variant not provided [RCV003668032] Chr8:86644663 [GRCh38]
Chr8:87656891 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.644-14T>C single nucleotide variant not provided [RCV003850852] Chr8:86667147 [GRCh38]
Chr8:87679375 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1178+13T>A single nucleotide variant not provided [RCV003670968] Chr8:86643738 [GRCh38]
Chr8:87655966 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.903+13C>T single nucleotide variant not provided [RCV003560195] Chr8:86653999 [GRCh38]
Chr8:87666227 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1827G>A (p.Val609=) single nucleotide variant not provided [RCV003669012] Chr8:86579207 [GRCh38]
Chr8:87591435 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.644-13G>A single nucleotide variant not provided [RCV003854795] Chr8:86667146 [GRCh38]
Chr8:87679374 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1178+20G>A single nucleotide variant not provided [RCV003724199] Chr8:86643731 [GRCh38]
Chr8:87655959 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.338+13_338+14del deletion not provided [RCV003716981] Chr8:86726517..86726518 [GRCh38]
Chr8:87738745..87738746 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.211+10C>T single nucleotide variant not provided [RCV003671294] Chr8:86739645 [GRCh38]
Chr8:87751873 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1579-10T>C single nucleotide variant not provided [RCV003700451] Chr8:86611681 [GRCh38]
Chr8:87623909 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1602T>C (p.Tyr534=) single nucleotide variant not provided [RCV003666423] Chr8:86611648 [GRCh38]
Chr8:87623876 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2382C>G (p.Gly794=) single nucleotide variant not provided [RCV003832922] Chr8:86575852 [GRCh38]
Chr8:87588080 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2216ATAAAG[1] (p.739DK[1]) microsatellite not provided [RCV003854655] Chr8:86576007..86576012 [GRCh38]
Chr8:87588235..87588240 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1480+10G>T single nucleotide variant not provided [RCV003701665] Chr8:86628909 [GRCh38]
Chr8:87641137 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.114G>A (p.Gln38=) single nucleotide variant not provided [RCV003664021] Chr8:86743514 [GRCh38]
Chr8:87755742 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1782-19T>A single nucleotide variant not provided [RCV003832116] Chr8:86579271 [GRCh38]
Chr8:87591499 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1056-14A>G single nucleotide variant not provided [RCV003667949] Chr8:86643887 [GRCh38]
Chr8:87656115 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1320+1G>A single nucleotide variant not provided [RCV003567009] Chr8:86632751 [GRCh38]
Chr8:87644979 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.1929-6C>A single nucleotide variant not provided [RCV003670709] Chr8:86578869 [GRCh38]
Chr8:87591097 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.192G>A (p.Glu64=) single nucleotide variant not provided [RCV003840763] Chr8:86739674 [GRCh38]
Chr8:87751902 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.494-17T>A single nucleotide variant not provided [RCV003729676] Chr8:86668185 [GRCh38]
Chr8:87680413 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1515G>T (p.Thr505=) single nucleotide variant not provided [RCV003565160] Chr8:86626046 [GRCh38]
Chr8:87638274 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1198del (p.Trp400fs) deletion not provided [RCV003678854] Chr8:86632874 [GRCh38]
Chr8:87645102 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.108G>A (p.Gln36=) single nucleotide variant not provided [RCV003565361] Chr8:86743520 [GRCh38]
Chr8:87755748 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.448T>C (p.Leu150=) single nucleotide variant not provided [RCV003862528] Chr8:86670989 [GRCh38]
Chr8:87683217 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1629T>C (p.Val543=) single nucleotide variant not provided [RCV003706805] Chr8:86611621 [GRCh38]
Chr8:87623849 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1663-1205G>T single nucleotide variant not provided [RCV003542675] Chr8:86605416 [GRCh38]
Chr8:87617644 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1480+19C>T single nucleotide variant not provided [RCV003732512] Chr8:86628900 [GRCh38]
Chr8:87641128 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2334G>C (p.Gly778=) single nucleotide variant not provided [RCV003567137] Chr8:86575900 [GRCh38]
Chr8:87588128 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.99A>G (p.Pro33=) single nucleotide variant not provided [RCV003711429] Chr8:86743529 [GRCh38]
Chr8:87755757 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.903+15A>G single nucleotide variant not provided [RCV003857566] Chr8:86653997 [GRCh38]
Chr8:87666225 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.494-5T>C single nucleotide variant not provided [RCV003564286] Chr8:86668173 [GRCh38]
Chr8:87680401 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.903+12_903+15del microsatellite not provided [RCV003862950] Chr8:86653997..86654000 [GRCh38]
Chr8:87666225..87666228 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1968C>A (p.Thr656=) single nucleotide variant not provided [RCV003678906] Chr8:86578824 [GRCh38]
Chr8:87591052 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2316G>A (p.Arg772=) single nucleotide variant not provided [RCV003681409] Chr8:86575918 [GRCh38]
Chr8:87588146 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.493+13C>G single nucleotide variant not provided [RCV003555563] Chr8:86670931 [GRCh38]
Chr8:87683159 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.494-11T>G single nucleotide variant not provided [RCV003729247] Chr8:86668179 [GRCh38]
Chr8:87680407 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2160A>G (p.Gln720=) single nucleotide variant not provided [RCV003681459] Chr8:86576074 [GRCh38]
Chr8:87588302 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.207A>C (p.Ile69=) single nucleotide variant not provided [RCV003683306] Chr8:86739659 [GRCh38]
Chr8:87751887 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1578+15A>T single nucleotide variant not provided [RCV003844654] Chr8:86625968 [GRCh38]
Chr8:87638196 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1178+16G>C single nucleotide variant not provided [RCV003728792] Chr8:86643735 [GRCh38]
Chr8:87655963 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.126del (p.Gln43fs) deletion not provided [RCV003567077] Chr8:86743502 [GRCh38]
Chr8:87755730 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.493+12T>C single nucleotide variant not provided [RCV003734154] Chr8:86670932 [GRCh38]
Chr8:87683160 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1056-16C>G single nucleotide variant not provided [RCV003681643] Chr8:86643889 [GRCh38]
Chr8:87656117 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.211+13T>C single nucleotide variant not provided [RCV003711721] Chr8:86739642 [GRCh38]
Chr8:87751870 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2158_2220del (p.Gln720_Lys740del) deletion not provided [RCV003711729] Chr8:86576014..86576076 [GRCh38]
Chr8:87588242..87588304 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1482del (p.Asp494fs) deletion not provided [RCV003707611] Chr8:86626079 [GRCh38]
Chr8:87638307 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.130-16A>G single nucleotide variant not provided [RCV003818160] Chr8:86739752 [GRCh38]
Chr8:87751980 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.651C>T (p.Leu217=) single nucleotide variant not provided [RCV003685033] Chr8:86667126 [GRCh38]
Chr8:87679354 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.339-18del deletion not provided [RCV003731026] Chr8:86671116 [GRCh38]
Chr8:87683344 [GRCh37]
Chr8:8q21.3		 likely benign
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
NM_019098.5(CNGB3):c.130-12T>A single nucleotide variant not provided [RCV003733059] Chr8:86739748 [GRCh38]
Chr8:87751976 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1407C>T (p.Tyr469=) single nucleotide variant not provided [RCV003550374] Chr8:86628992 [GRCh38]
Chr8:87641220 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.333A>G (p.Pro111=) single nucleotide variant not provided [RCV003564896] Chr8:86726536 [GRCh38]
Chr8:87738764 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.465C>T (p.Leu155=) single nucleotide variant not provided [RCV003566375] Chr8:86670972 [GRCh38]
Chr8:87683200 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1662+14A>G single nucleotide variant not provided [RCV003844988] Chr8:86611574 [GRCh38]
Chr8:87623802 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.264T>G (p.Pro88=) single nucleotide variant not provided [RCV003720963] Chr8:86726605 [GRCh38]
Chr8:87738833 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1941G>A (p.Lys647=) single nucleotide variant not provided [RCV003853605] Chr8:86578851 [GRCh38]
Chr8:87591079 [GRCh37]
Chr8:8q21.3		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_019098.5(CNGB3):c.1055+7T>C single nucleotide variant not provided [RCV003550750] Chr8:86644615 [GRCh38]
Chr8:87656843 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.339-11T>C single nucleotide variant not provided [RCV003684830] Chr8:86671109 [GRCh38]
Chr8:87683337 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1178+13T>G single nucleotide variant not provided [RCV003868250] Chr8:86643738 [GRCh38]
Chr8:87655966 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.991-2A>G single nucleotide variant not provided [RCV003562828] Chr8:86644688 [GRCh38]
Chr8:87656916 [GRCh37]
Chr8:8q21.3		 likely pathogenic
GRCh37/hg19 8q21.2-21.3(chr8:85339090-89534521)x3 copy number gain not specified [RCV003986766] Chr8:85339090..89534521 [GRCh37]
Chr8:8q21.2-21.3		 uncertain significance
NM_019098.5(CNGB3):c.1929-13C>G single nucleotide variant not provided [RCV003732509] Chr8:86578876 [GRCh38]
Chr8:87591104 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1317T>C (p.Gly439=) single nucleotide variant not provided [RCV003718838] Chr8:86632755 [GRCh38]
Chr8:87644983 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1481-14T>G single nucleotide variant not provided [RCV003557025] Chr8:86626094 [GRCh38]
Chr8:87638322 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2301C>G (p.Pro767=) single nucleotide variant not provided [RCV003718778] Chr8:86575933 [GRCh38]
Chr8:87588161 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1481-15T>C single nucleotide variant not provided [RCV003737746] Chr8:86626095 [GRCh38]
Chr8:87638323 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1185G>A (p.Leu395=) single nucleotide variant not provided [RCV003685865] Chr8:86632887 [GRCh38]
Chr8:87645115 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.861A>G (p.Ser287=) single nucleotide variant not provided [RCV003704653] Chr8:86654054 [GRCh38]
Chr8:87666282 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.762T>A (p.Leu254=) single nucleotide variant not provided [RCV003711385] Chr8:86667015 [GRCh38]
Chr8:87679243 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1086T>C (p.Phe362=) single nucleotide variant not provided [RCV003704885] Chr8:86643843 [GRCh38]
Chr8:87656071 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1743G>C (p.Leu581=) single nucleotide variant not provided [RCV003706200] Chr8:86604131 [GRCh38]
Chr8:87616359 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.129+1G>A single nucleotide variant not provided [RCV003557407] Chr8:86743498 [GRCh38]
Chr8:87755726 [GRCh37]
Chr8:8q21.3		 likely pathogenic
NM_019098.5(CNGB3):c.33G>A (p.Val11=) single nucleotide variant not provided [RCV003551616] Chr8:86743595 [GRCh38]
Chr8:87755823 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1763C>A (p.Ser588Ter) single nucleotide variant not provided [RCV003566426] Chr8:86604111 [GRCh38]
Chr8:87616339 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.1230C>G (p.Gly410=) single nucleotide variant not provided [RCV003707995] Chr8:86632842 [GRCh38]
Chr8:87645070 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.339-15T>A single nucleotide variant not provided [RCV003720295] Chr8:86671113 [GRCh38]
Chr8:87683341 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1481-16G>T single nucleotide variant not provided [RCV003845150] Chr8:86626096 [GRCh38]
Chr8:87638324 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2329A>C (p.Arg777=) single nucleotide variant not provided [RCV003684214] Chr8:86575905 [GRCh38]
Chr8:87588133 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1521G>A (p.Gln507=) single nucleotide variant not provided [RCV003845796] Chr8:86626040 [GRCh38]
Chr8:87638268 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2361C>T (p.Ser787=) single nucleotide variant not provided [RCV003712376] Chr8:86575873 [GRCh38]
Chr8:87588101 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.904-17A>C single nucleotide variant not provided [RCV003732112] Chr8:86647904 [GRCh38]
Chr8:87660132 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2085G>A (p.Lys695=) single nucleotide variant not provided [RCV003568346] Chr8:86578707 [GRCh38]
Chr8:87590935 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1710A>G (p.Gln570=) single nucleotide variant not provided [RCV003820454] Chr8:86604164 [GRCh38]
Chr8:87616392 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1578+16A>G single nucleotide variant not provided [RCV003734943] Chr8:86625967 [GRCh38]
Chr8:87638195 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.853-7C>A single nucleotide variant not provided [RCV003865589] Chr8:86654069 [GRCh38]
Chr8:87666297 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.990+20T>A single nucleotide variant not provided [RCV003711825] Chr8:86647781 [GRCh38]
Chr8:87660009 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1321-7G>A single nucleotide variant not provided [RCV003555165] Chr8:86629085 [GRCh38]
Chr8:87641313 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.211+17A>G single nucleotide variant not provided [RCV003734700] Chr8:86739638 [GRCh38]
Chr8:87751866 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.409A>T (p.Lys137Ter) single nucleotide variant not provided [RCV003682826] Chr8:86671028 [GRCh38]
Chr8:87683256 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.990+8A>C single nucleotide variant not provided [RCV003703974] Chr8:86647793 [GRCh38]
Chr8:87660021 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1512T>C (p.Thr504=) single nucleotide variant not provided [RCV003820943] Chr8:86626049 [GRCh38]
Chr8:87638277 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.493+17C>A single nucleotide variant not provided [RCV003819926] Chr8:86670927 [GRCh38]
Chr8:87683155 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1781+15C>A single nucleotide variant not provided [RCV003704206] Chr8:86604078 [GRCh38]
Chr8:87616306 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.211+14C>A single nucleotide variant not provided [RCV003562629] Chr8:86739641 [GRCh38]
Chr8:87751869 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1662+12C>T single nucleotide variant not provided [RCV003563842] Chr8:86611576 [GRCh38]
Chr8:87623804 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2028T>C (p.Phe676=) single nucleotide variant not provided [RCV003706737] Chr8:86578764 [GRCh38]
Chr8:87590992 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.211+16del deletion not provided [RCV003844894] Chr8:86739639 [GRCh38]
Chr8:87751867 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1178+12T>C single nucleotide variant not provided [RCV003562794] Chr8:86643739 [GRCh38]
Chr8:87655967 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2103+10T>A single nucleotide variant not provided [RCV003823305] Chr8:86578679 [GRCh38]
Chr8:87590907 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1929-13_1929-10del microsatellite not provided [RCV003566537] Chr8:86578873..86578876 [GRCh38]
Chr8:87591101..87591104 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.795T>G (p.Leu265=) single nucleotide variant not provided [RCV003541777] Chr8:86666982 [GRCh38]
Chr8:87679210 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2038del (p.Leu679_Leu680insTer) deletion not provided [RCV003733536] Chr8:86578754 [GRCh38]
Chr8:87590982 [GRCh37]
Chr8:8q21.3		 pathogenic
NM_019098.5(CNGB3):c.54T>C (p.Asn18=) single nucleotide variant not provided [RCV003554981] Chr8:86743574 [GRCh38]
Chr8:87755802 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.762T>C (p.Leu254=) single nucleotide variant not provided [RCV003711049] Chr8:86667015 [GRCh38]
Chr8:87679243 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.408G>T (p.Val136=) single nucleotide variant not provided [RCV003706930] Chr8:86671029 [GRCh38]
Chr8:87683257 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.1641T>C (p.Pro547=) single nucleotide variant not provided [RCV003562950] Chr8:86611609 [GRCh38]
Chr8:87623837 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.918A>G (p.Ser306=) single nucleotide variant not provided [RCV003562948] Chr8:86647873 [GRCh38]
Chr8:87660101 [GRCh37]
Chr8:8q21.3		 likely benign
NM_019098.5(CNGB3):c.2103+3A>G single nucleotide variant not specified [RCV003988447] Chr8:86578686 [GRCh38]
Chr8:87590914 [GRCh37]
Chr8:8q21.3		 uncertain significance
NM_019098.5(CNGB3):c.644-1G>C single nucleotide variant Achromatopsia 3 [RCV000169108]|Achromatopsia 3 [RCV001535671]|Achromatopsia [RCV001002980]|not provided [RCV000814009] Chr8:86667134 [GRCh38]
Chr8:87679362 [GRCh37]
Chr8:8q21.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:773
Count of miRNA genes:559
Interacting mature miRNAs:614
Transcripts:ENST00000320005, ENST00000517327, ENST00000519777
Prediction methods: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
D8S167  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37887,733,020 - 87,733,144UniSTSGRCh37
Build 36887,802,136 - 87,802,260RGDNCBI36
Celera883,927,579 - 83,927,703RGD
Cytogenetic Map8q21.3UniSTS
HuRef882,942,245 - 82,942,375UniSTS
Marshfield Genetic Map8101.01UniSTS
Marshfield Genetic Map8101.01RGD
Whitehead-YAC Contig Map8 UniSTS
RH66511  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37887,586,444 - 87,586,594UniSTSGRCh37
Build 36887,655,560 - 87,655,710RGDNCBI36
Celera883,780,995 - 83,781,145RGD
Cytogenetic Map8q21.3UniSTS
HuRef882,795,863 - 82,796,013UniSTS
GeneMap99-GB4 RH Map8424.52UniSTS
RH66512  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37887,716,194 - 87,716,328UniSTSGRCh37
Build 36887,785,310 - 87,785,444RGDNCBI36
Celera883,910,756 - 83,910,890RGD
Cytogenetic Map8q21.3UniSTS
HuRef882,925,430 - 82,925,564UniSTS
GeneMap99-GB4 RH Map8423.8UniSTS
G17220  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37887,594,670 - 87,594,856UniSTSGRCh37
Build 36887,663,786 - 87,663,972RGDNCBI36
Celera883,789,226 - 83,789,412RGD
Cytogenetic Map8q21.3UniSTS
HuRef882,804,084 - 82,804,270UniSTS


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 entire extraembryonic component
High
Medium 1 1 1 13 2
Low 39 19 4 75 4 3 7 46 42 442 60 1 1 20 1
Below cutoff 1923 2080 1207 347 886 197 3560 1706 3008 185 781 1181 158 967 2344 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF228520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX118844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ426865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF045863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF045864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN473200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000320005   ⟹   ENSP00000316605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl886,574,179 - 86,743,634 (-)Ensembl
RefSeq Acc Id: ENST00000517327   ⟹   ENSP00000428329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl886,553,977 - 86,579,206 (-)Ensembl
RefSeq Acc Id: ENST00000519777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl886,703,949 - 86,743,609 (-)Ensembl
RefSeq Acc Id: ENST00000680314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl886,668,164 - 86,694,069 (-)Ensembl
RefSeq Acc Id: ENST00000681546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl886,574,205 - 86,657,945 (-)Ensembl
RefSeq Acc Id: ENST00000681746   ⟹   ENSP00000505959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl886,573,935 - 86,743,675 (-)Ensembl
RefSeq Acc Id: NM_019098   ⟹   NP_061971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38886,574,179 - 86,743,634 (-)NCBI
GRCh37887,586,163 - 87,755,903 (-)ENTREZGENE
Build 36887,655,277 - 87,825,017 (-)NCBI Archive
HuRef882,795,582 - 82,965,151 (-)ENTREZGENE
CHM1_1887,627,665 - 87,797,926 (-)NCBI
T2T-CHM13v2.0887,694,425 - 87,863,851 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517138   ⟹   XP_011515440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38886,574,179 - 86,694,000 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054360722   ⟹   XP_054216697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0887,694,425 - 87,814,294 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_061971   ⟸   NM_019098
- UniProtKB: C9JA51 (UniProtKB/Swiss-Prot),   Q9NRE9 (UniProtKB/Swiss-Prot),   Q9NQW8 (UniProtKB/Swiss-Prot),   B9EK43 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515440   ⟸   XM_011517138
- Peptide Label: isoform X1
- UniProtKB: B9EK43 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000428329   ⟸   ENST00000517327
RefSeq Acc Id: ENSP00000316605   ⟸   ENST00000320005
RefSeq Acc Id: ENSP00000505959   ⟸   ENST00000681746
RefSeq Acc Id: XP_054216697   ⟸   XM_054360722
- Peptide Label: isoform X1
Protein Domains
Cyclic nucleotide-binding   Ion transport

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQW8-F1-model_v2 AlphaFold Q9NQW8 1-809 view protein structure

Promoters
RGD ID:7213707
Promoter ID:EPDNEW_H12599
Type:initiation region
Name:CNGB3_1
Description:cyclic nucleotide gated channel beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38886,743,634 - 86,743,694EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2153 AgrOrtholog
COSMIC CNGB3 COSMIC
Ensembl Genes ENSG00000170289 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000320005 ENTREZGENE
  ENST00000320005.6 UniProtKB/Swiss-Prot
  ENST00000517327.5 UniProtKB/TrEMBL
  ENST00000681746.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helix hairpin bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170289 GTEx
HGNC ID HGNC:2153 ENTREZGENE
Human Proteome Map CNGB3 Human Proteome Map
InterPro cNMP-bd-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cNMP-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  cNMP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RmlC-like_jellyroll UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54714 UniProtKB/Swiss-Prot
NCBI Gene 54714 ENTREZGENE
OMIM 605080 OMIM
PANTHER CYCLIC NUCLEOTIDE-GATED CATION CHANNEL SUBUNIT A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45638:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam cNMP_binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26663 PharmGKB
PROSITE CNMP_BINDING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CNMP_BINDING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CNMP_BINDING_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART cNMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51206 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1Y0AYH4_HUMAN UniProtKB/TrEMBL
  A0A1Y0AYH9_HUMAN UniProtKB/TrEMBL
  A0A5J6DSN8_HUMAN UniProtKB/TrEMBL
  B9EK43 ENTREZGENE, UniProtKB/TrEMBL
  C9JA51 ENTREZGENE
  CNGB3_HUMAN UniProtKB/Swiss-Prot
  H0YAZ4_HUMAN UniProtKB/TrEMBL
  Q0QD47_HUMAN UniProtKB/TrEMBL
  Q9NQW8 ENTREZGENE
  Q9NRE9 ENTREZGENE
UniProt Secondary C9JA51 UniProtKB/Swiss-Prot
  Q9NRE9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-06-25 CNGB3  cyclic nucleotide gated channel subunit beta 3  CNGB3  cyclic nucleotide gated channel beta 3  Symbol and/or name change 5135510 APPROVED
2016-04-05 CNGB3  cyclic nucleotide gated channel beta 3  ACHM1  achromatopsia (rod monochromacy) 1  Data merged from RGD:1353263 737654 PROVISIONAL