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; intracellularly cAMP-activated cation channel 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 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:33726789  
PMID:34349018   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 disorder [RCV000778111]|Cone-rod dystrophy [RCV000787571]|Inborn genetic diseases [RCV004018566]|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 Inborn genetic diseases [RCV004020073]|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.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
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 disorder [RCV004539570]|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 disorder [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]|not provided [RCV004696091] 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 disorder [RCV004535518]|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]|not specified [RCV004526709] 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 disorder [RCV004531039]|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]|Inborn genetic diseases [RCV004609606]|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]|not provided [RCV004695066] 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]|Inborn genetic diseases [RCV004609683]|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 Inborn genetic diseases [RCV004034897]|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]|Inborn genetic diseases [RCV004034825]|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 3 [RCV003989619]|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]|Inborn genetic diseases [RCV004035271]|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 disorder [RCV004536136]|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]|Inborn genetic diseases [RCV004611797]|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 disorder [RCV004540410]|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		 conflicting interpretations of pathogenicity|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|conflicting interpretations of pathogenicity|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 Achromatopsia 3 [RCV004594599]|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 Inborn genetic diseases [RCV004071947]|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 Inborn genetic diseases [RCV004071706]|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