CNGA3 (cyclic nucleotide gated channel subunit alpha 3) - Rat Genome Database

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Gene: CNGA3 (cyclic nucleotide gated channel subunit alpha 3) Homo sapiens
Analyze
Symbol: CNGA3
Name: cyclic nucleotide gated channel subunit alpha 3
RGD ID: 733295
HGNC Page HGNC:2150
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 2 and color blindness.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACHM2; CCNC1; CCNCa; CCNCalpha; CNCG3; CNG channel alpha-3; CNG-3; CNG3; cone photoreceptor cGMP-gated channel alpha subunit; cone photoreceptor cGMP-gated channel subunit alpha; cone photoreceptor cGMP-gated channel subunit alpha-3; cyclic nucleotide gated channel alpha 3; cyclic nucleotide-gated cation channel alpha-3; cyclic nucleotide-gated channel alpha-3
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
GRCh38298,346,456 - 98,398,601 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl298,346,188 - 98,398,601 (+)EnsemblGRCh38hg38GRCh38
GRCh37298,962,919 - 99,015,064 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36298,329,050 - 98,381,496 (+)NCBINCBI36Build 36hg18NCBI36
Build 34298,444,917 - 98,473,581NCBI
Celera293,166,338 - 93,218,784 (+)NCBICelera
Cytogenetic Map2q11.2NCBI
HuRef292,727,722 - 92,780,234 (+)NCBIHuRef
CHM1_1298,966,936 - 99,019,379 (+)NCBICHM1_1
T2T-CHM13v2.0298,804,385 - 98,856,818 (+)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

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

Human Phenotype
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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Cyclic nucleotide-gated ion channels. Kaupp UB and Seifert R, Physiol Rev. 2002 Jul;82(3):769-824.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. Reuter P, etal., Hum Mutat. 2008 Oct;29(10):1228-36. doi: 10.1002/humu.20790.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. CNGA3 mutations in hereditary cone photoreceptor disorders. Wissinger B, etal., Am J Hum Genet 2001 Oct;69(4):722-37. Epub 2001 Aug 30.
Additional References at PubMed
PMID:7532814   PMID:9158143   PMID:9517456   PMID:9662398   PMID:9721202   PMID:10888875   PMID:12432397   PMID:12477932   PMID:12815043   PMID:14757870   PMID:15024024   PMID:15134637  
PMID:15223812   PMID:15489334   PMID:15712225   PMID:15743887   PMID:15815621   PMID:16319819   PMID:16382102   PMID:16961972   PMID:17018579   PMID:17286855   PMID:17620599   PMID:17693388  
PMID:18445228   PMID:18636117   PMID:19592100   PMID:20079539   PMID:20301591   PMID:20454696   PMID:20506298   PMID:20549516   PMID:20801516   PMID:21267001   PMID:21268679   PMID:21873635  
PMID:21901789   PMID:21911670   PMID:21912902   PMID:22493484   PMID:23362848   PMID:23552282   PMID:23677796   PMID:23735507   PMID:24164424   PMID:24675082   PMID:24676353   PMID:24903488  
PMID:25052312   PMID:25616768   PMID:25637600   PMID:27040408   PMID:28159970   PMID:28282490   PMID:28514442   PMID:29499183   PMID:30021884   PMID:30187779   PMID:30289319   PMID:30682209  
PMID:30711023   PMID:30804581   PMID:31391242   PMID:32296183   PMID:32869108   PMID:33961781   PMID:34373451   PMID:34449556   PMID:35233102   PMID:35332618   PMID:35456423   PMID:36801918  
PMID:37071682   PMID:37372476   PMID:37463923   PMID:37689994  


Genomics

Comparative Map Data
CNGA3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38298,346,456 - 98,398,601 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl298,346,188 - 98,398,601 (+)EnsemblGRCh38hg38GRCh38
GRCh37298,962,919 - 99,015,064 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36298,329,050 - 98,381,496 (+)NCBINCBI36Build 36hg18NCBI36
Build 34298,444,917 - 98,473,581NCBI
Celera293,166,338 - 93,218,784 (+)NCBICelera
Cytogenetic Map2q11.2NCBI
HuRef292,727,722 - 92,780,234 (+)NCBIHuRef
CHM1_1298,966,936 - 99,019,379 (+)NCBICHM1_1
T2T-CHM13v2.0298,804,385 - 98,856,818 (+)NCBIT2T-CHM13v2.0
Cnga3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39137,257,317 - 37,302,465 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl137,253,515 - 37,302,465 (+)EnsemblGRCm39 Ensembl
GRCm38137,218,241 - 37,263,384 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl137,214,434 - 37,263,384 (+)EnsemblGRCm38mm10GRCm38
MGSCv37137,276,106 - 37,320,229 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36137,163,807 - 37,207,930 (+)NCBIMGSCv36mm8
Celera136,995,421 - 37,043,436 (+)NCBICelera
Cytogenetic Map1BNCBI
cM Map115.46NCBI
Cnga3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8946,943,353 - 46,989,862 (+)NCBIGRCr8
mRatBN7.2939,447,534 - 39,494,044 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl939,448,034 - 39,493,183 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx947,943,588 - 47,990,097 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0953,066,347 - 53,112,858 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0951,348,230 - 51,394,733 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0943,807,412 - 43,858,225 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl943,807,677 - 43,854,396 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0943,476,297 - 43,497,654 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4936,180,295 - 36,203,098 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1936,181,708 - 36,204,512 (+)NCBI
Celera937,227,455 - 37,249,072 (+)NCBICelera
Cytogenetic Map9q21NCBI
Cnga3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554704,884,309 - 4,906,902 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554704,884,054 - 4,907,151 (+)NCBIChiLan1.0ChiLan1.0
CNGA3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21230,043,405 - 30,074,910 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A30,046,167 - 30,077,672 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A100,911,053 - 100,962,278 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A99,259,808 - 99,308,524 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A99,259,808 - 99,308,517 (+)Ensemblpanpan1.1panPan2
CNGA3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11044,232,716 - 44,278,555 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1044,234,004 - 44,260,746 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1044,156,508 - 44,183,215 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01045,105,862 - 45,150,463 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1045,104,784 - 45,151,081 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11044,817,459 - 44,844,164 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01045,108,283 - 45,135,227 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01045,284,117 - 45,310,870 (-)NCBIUU_Cfam_GSD_1.0
Cnga3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629284,246,488 - 84,286,560 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367441,514,821 - 1,540,580 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367441,499,431 - 1,537,784 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CNGA3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl355,874,250 - 55,922,979 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1355,872,607 - 55,936,516 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2358,478,654 - 58,496,156 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CNGA3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1142,039,281 - 2,124,527 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl142,096,232 - 2,123,231 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041169,587,189 - 169,645,494 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cnga3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247493,458,991 - 3,483,003 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247493,458,997 - 3,482,697 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CNGA3
624 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs) duplication Achromatopsia 2 [RCV000735808]|Achromatopsia [RCV001002959] Chr2:98377710..98377711 [GRCh38]
Chr2:98994173..98994174 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser) single nucleotide variant Achromatopsia 2 [RCV000144419]|not provided [RCV001543590] Chr2:98395997 [GRCh38]
Chr2:99012460 [GRCh37]
Chr2:2q11.2		 likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) single nucleotide variant Achromatopsia 2 [RCV000010081] Chr2:98389696 [GRCh38]
Chr2:99006159 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) single nucleotide variant Achromatopsia 2 [RCV000010082]|Monochromacy [RCV000415133]|not provided [RCV001222182] Chr2:98396017 [GRCh38]
Chr2:99012480 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) single nucleotide variant Achromatopsia 2 [RCV000010083]|Achromatopsia [RCV001002963]|Retinal dystrophy [RCV001075581]|not provided [RCV001050960] Chr2:98396018 [GRCh38]
Chr2:99012481 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) single nucleotide variant Achromatopsia 2 [RCV000010084]|Achromatopsia [RCV001002972]|Inborn genetic diseases [RCV002512958]|Retinal dystrophy [RCV001074603]|not provided [RCV001219847]|not specified [RCV000169654] Chr2:98396839 [GRCh38]
Chr2:99013302 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg) single nucleotide variant Achromatopsia 2 [RCV000010085]|Retinal dystrophy [RCV001075211] Chr2:98396042 [GRCh38]
Chr2:99012505 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) single nucleotide variant Achromatopsia 2 [RCV000010086]|Achromatopsia [RCV001002970]|Monochromacy [RCV000415000]|Retinal dystrophy [RCV001074686]|not provided [RCV001055558] Chr2:98396811 [GRCh38]
Chr2:99013274 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) single nucleotide variant Achromatopsia 2 [RCV000010087]|Retinal dystrophy [RCV001075289]|not provided [RCV001052998] Chr2:98396398 [GRCh38]
Chr2:99012861 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) single nucleotide variant Achromatopsia 2 [RCV000010088]|Achromatopsia [RCV001002968]|not provided [RCV000352391] Chr2:98396755 [GRCh38]
Chr2:99013218 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) single nucleotide variant Achromatopsia 2 [RCV000010089]|Achromatopsia [RCV000596449]|Color vision defect [RCV000626801]|not provided [RCV001092740] Chr2:98395999 [GRCh38]
Chr2:99012462 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) single nucleotide variant Achromatopsia 2 [RCV000010090]|Achromatopsia [RCV000591222]|Retinal dystrophy [RCV001075358]|not provided [RCV001042434] Chr2:98396476 [GRCh38]
Chr2:99012939 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.577G>A (p.Asp193Asn) single nucleotide variant not provided [RCV000729241] Chr2:98391874 [GRCh38]
Chr2:99008337 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.395+10G>A single nucleotide variant not provided [RCV001494460] Chr2:98380364 [GRCh38]
Chr2:98996827 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.2(CNGA3):c.1584C>T (p.Ala528=) single nucleotide variant Lung cancer [RCV000092567] Chr2:98396754 [GRCh38]
Chr2:99013217 [GRCh37]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1		 pathogenic
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13		 pathogenic
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 copy number gain See cases [RCV000052945] Chr2:91443218..102334856 [GRCh38]
Chr2:91617683..102951316 [GRCh37]
Chr2:90981410..102317748 [NCBI36]
Chr2:2p11.2-q11.2		 pathogenic
NM_001298.3(CNGA3):c.110C>T (p.Ser37Leu) single nucleotide variant Achromatopsia 2 [RCV000337205]|not provided [RCV001426518] Chr2:98377695 [GRCh38]
Chr2:98994158 [GRCh37]
Chr2:98360590 [NCBI36]
Chr2:2q11.2		 likely benign|uncertain significance|not provided
NM_001298.3(CNGA3):c.1888G>A (p.Val630Met) single nucleotide variant not provided [RCV001367904] Chr2:98397058 [GRCh38]
Chr2:99013521 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg) single nucleotide variant Achromatopsia 2 [RCV001823124]|not provided [RCV000171300] Chr2:98396125 [GRCh38]
Chr2:99012588 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1457G>A (p.Cys486Tyr) single nucleotide variant not provided [RCV000171301] Chr2:98396627 [GRCh38]
Chr2:99013090 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1573G>A (p.Gly525Ser) single nucleotide variant Achromatopsia 2 [RCV003984823]|not provided [RCV000171302] Chr2:98396743 [GRCh38]
Chr2:99013206 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|no classifications from unflagged records
NM_001298.3(CNGA3):c.101+1G>A single nucleotide variant Achromatopsia 2 [RCV000190571]|Cone-rod dystrophy [RCV002267730]|not provided [RCV000323992] Chr2:98370077 [GRCh38]
Chr2:98986540 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3 copy number gain See cases [RCV000138012] Chr2:95337458..99072953 [GRCh38]
Chr2:96003206..99689416 [GRCh37]
Chr2:95366933..99055848 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13		 pathogenic
NM_001298.3(CNGA3):c.1688G>A (p.Arg563His) single nucleotide variant Abnormality of the eye [RCV000504957]|Achromatopsia 2 [RCV001782754]|Retinal dystrophy [RCV001074992]|not provided [RCV000254808] Chr2:98396858 [GRCh38]
Chr2:99013321 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.508C>T (p.Arg170Cys) single nucleotide variant not provided [RCV000179380] Chr2:98389716 [GRCh38]
Chr2:99006179 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.868C>T (p.Arg290Cys) single nucleotide variant not provided [RCV000180214] Chr2:98396038 [GRCh38]
Chr2:99012501 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) single nucleotide variant Achromatopsia 2 [RCV001137480]|not provided [RCV000180215] Chr2:98395910 [GRCh38]
Chr2:99012373 [GRCh37]
Chr2:2q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.*469A>G single nucleotide variant Achromatopsia 2 [RCV000264558] Chr2:98397724 [GRCh38]
Chr2:99014187 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) single nucleotide variant Achromatopsia 2 [RCV000678543]|Retinal dystrophy [RCV000225371]|not provided [RCV000322792] Chr2:98396727 [GRCh38]
Chr2:99013190 [GRCh37]
Chr2:2q11.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_001298.3(CNGA3):c.248G>A (p.Trp83Ter) single nucleotide variant Retinal dystrophy [RCV000225523]|not provided [RCV001854800] Chr2:98380207 [GRCh38]
Chr2:98996670 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1931T>C (p.Phe644Ser) single nucleotide variant Retinal dystrophy [RCV000225636]|not provided [RCV001854801] Chr2:98397101 [GRCh38]
Chr2:99013564 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter) single nucleotide variant Achromatopsia 2 [RCV001729643]|not provided [RCV000578710] Chr2:98389721 [GRCh38]
Chr2:99006184 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.215+46T>G single nucleotide variant not provided [RCV001668473]|not specified [RCV000246085] Chr2:98377846 [GRCh38]
Chr2:98994309 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg) single nucleotide variant Achromatopsia 2 [RCV000267566]|not provided [RCV001246923] Chr2:98396513 [GRCh38]
Chr2:99012976 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*838T>C single nucleotide variant Achromatopsia 2 [RCV000268047] Chr2:98398093 [GRCh38]
Chr2:99014556 [GRCh37]
Chr2:2q11.2		 benign|likely benign
NM_001298.3(CNGA3):c.1746C>T (p.Asp582=) single nucleotide variant Achromatopsia 2 [RCV000278277]|not provided [RCV000892262] Chr2:98396916 [GRCh38]
Chr2:99013379 [GRCh37]
Chr2:2q11.2		 benign|likely benign|uncertain significance
NM_001298.2(CNGA3):c.-271G>A single nucleotide variant Achromatopsia 2 [RCV000286099] Chr2:98346301 [GRCh38]
Chr2:98962764 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.72T>C (p.Asp24=) single nucleotide variant Achromatopsia 2 [RCV000301009]|not provided [RCV001511397]|not specified [RCV000251018] Chr2:98370047 [GRCh38]
Chr2:98986510 [GRCh37]
Chr2:2q11.2		 benign|likely benign
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) single nucleotide variant Achromatopsia 2 [RCV001139599]|not provided [RCV000888408]|not specified [RCV000254496] Chr2:98377783 [GRCh38]
Chr2:98994246 [GRCh37]
Chr2:2q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.128C>T (p.Ser43Leu) single nucleotide variant Inborn genetic diseases [RCV004023231]|not provided [RCV000487592] Chr2:98377713 [GRCh38]
Chr2:98994176 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.396-4G>A single nucleotide variant Achromatopsia 2 [RCV000276781]|CNGA3-related disorder [RCV003922468]|not provided [RCV000961971] Chr2:98383384 [GRCh38]
Chr2:98999847 [GRCh37]
Chr2:2q11.2		 benign|likely benign|uncertain significance
NM_001298.3(CNGA3):c.102-16A>G single nucleotide variant Achromatopsia 2 [RCV001729486]|not provided [RCV001518385]|not specified [RCV000248208] Chr2:98377671 [GRCh38]
Chr2:98994134 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) single nucleotide variant Achromatopsia 2 [RCV000778101]|Achromatopsia [RCV000273159]|not provided [RCV001512908]|not specified [RCV000733679] Chr2:98395852 [GRCh38]
Chr2:99012315 [GRCh37]
Chr2:2q11.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.*60G>A single nucleotide variant Achromatopsia 2 [RCV000313607] Chr2:98397315 [GRCh38]
Chr2:99013778 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr) single nucleotide variant Achromatopsia 2 [RCV000376215] Chr2:98396153 [GRCh38]
Chr2:99012616 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*904C>T single nucleotide variant Achromatopsia 2 [RCV000316143] Chr2:98398159 [GRCh38]
Chr2:99014622 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.2(CNGA3):c.-406C>T single nucleotide variant Achromatopsia 2 [RCV000287701] Chr2:98346166 [GRCh38]
Chr2:98962629 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.2(CNGA3):c.-287C>T single nucleotide variant Achromatopsia [RCV000339800] Chr2:98346285 [GRCh38]
Chr2:98962748 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*574C>T single nucleotide variant Achromatopsia 2 [RCV000360361] Chr2:98397829 [GRCh38]
Chr2:99014292 [GRCh37]
Chr2:2q11.2		 benign|likely benign
NM_001298.2(CNGA3):c.-383A>G single nucleotide variant Achromatopsia 2 [RCV000383182]|not provided [RCV003437074] Chr2:98346189 [GRCh38]
Chr2:98962652 [GRCh37]
Chr2:2q11.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.*178C>T single nucleotide variant Achromatopsia 2 [RCV000405188] Chr2:98397433 [GRCh38]
Chr2:99013896 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.215+11A>G single nucleotide variant Achromatopsia 2 [RCV000406457]|not provided [RCV001523391] Chr2:98377811 [GRCh38]
Chr2:98994274 [GRCh37]
Chr2:2q11.2		 benign|likely benign|uncertain significance
NM_001298.3(CNGA3):c.1626C>T (p.Ser542=) single nucleotide variant Achromatopsia 2 [RCV000322641]|not provided [RCV000892053] Chr2:98396796 [GRCh38]
Chr2:99013259 [GRCh37]
Chr2:2q11.2		 benign|likely benign
NM_001298.3(CNGA3):c.566+6C>T single nucleotide variant Achromatopsia 2 [RCV000362990]|CNGA3-related disorder [RCV003910310]|not provided [RCV000900864] Chr2:98389780 [GRCh38]
Chr2:99006243 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.1949A>C (p.Glu650Ala) single nucleotide variant Achromatopsia [RCV000293539]|not provided [RCV001055423] Chr2:98397119 [GRCh38]
Chr2:99013582 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.553C>G (p.Leu185Val) single nucleotide variant Achromatopsia 2 [RCV000308354] Chr2:98389761 [GRCh38]
Chr2:99006224 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*166G>A single nucleotide variant Achromatopsia 2 [RCV000345154] Chr2:98397421 [GRCh38]
Chr2:99013884 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*283G>A single nucleotide variant Achromatopsia 2 [RCV000309222] Chr2:98397538 [GRCh38]
Chr2:99014001 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.777C>A (p.Thr259=) single nucleotide variant Achromatopsia 2 [RCV000328284]|not provided [RCV001320754] Chr2:98395947 [GRCh38]
Chr2:99012410 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) single nucleotide variant Achromatopsia 2 [RCV000392354]|Achromatopsia [RCV001002957]|not provided [RCV001865226] Chr2:98370042 [GRCh38]
Chr2:98986505 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.2(CNGA3):c.-286C>T single nucleotide variant Achromatopsia 2 [RCV000392356] Chr2:98346286 [GRCh38]
Chr2:98962749 [GRCh37]
Chr2:2q11.2		 benign|likely benign
NM_001298.2(CNGA3):c.-388C>G single nucleotide variant Achromatopsia 2 [RCV000328565] Chr2:98346184 [GRCh38]
Chr2:98962647 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1968G>A (p.Met656Ile) single nucleotide variant Achromatopsia 2 [RCV000348566]|not provided [RCV001469273] Chr2:98397138 [GRCh38]
Chr2:99013601 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.2050G>A (p.Gly684Arg) single nucleotide variant Achromatopsia 2 [RCV000393717] Chr2:98397220 [GRCh38]
Chr2:99013683 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.225C>T (p.Arg75=) single nucleotide variant Achromatopsia 2 [RCV000312037]|not provided [RCV001409315] Chr2:98380184 [GRCh38]
Chr2:98996647 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.238C>T (p.Leu80=) single nucleotide variant Achromatopsia 2 [RCV000371239]|not provided [RCV001517738] Chr2:98380197 [GRCh38]
Chr2:98996660 [GRCh37]
Chr2:2q11.2		 benign|uncertain significance
NM_001298.3(CNGA3):c.1679C>T (p.Ser560Leu) single nucleotide variant Achromatopsia 2 [RCV000372589]|not provided [RCV001861161] Chr2:98396849 [GRCh38]
Chr2:99013312 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1034A>G (p.His345Arg) single nucleotide variant Achromatopsia 2 [RCV000764450]|not provided [RCV000274963] Chr2:98396204 [GRCh38]
Chr2:99012667 [GRCh37]
Chr2:2q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu) single nucleotide variant Achromatopsia 2 [RCV001140359]|not provided [RCV000381532] Chr2:98380243 [GRCh38]
Chr2:98996706 [GRCh37]
Chr2:2q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) single nucleotide variant Achromatopsia 2 [RCV000761548]|Cone dystrophy [RCV000505161]|Retinal dystrophy [RCV001074859]|not provided [RCV000278423] Chr2:98396137 [GRCh38]
Chr2:99012600 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.458C>T (p.Thr153Met) single nucleotide variant Achromatopsia 2 [RCV001140364]|not provided [RCV000948604]|not specified [RCV000382107] Chr2:98389666 [GRCh38]
Chr2:99006129 [GRCh37]
Chr2:2q11.2		 benign|likely benign
NM_001298.3(CNGA3):c.1831C>T (p.Leu611=) single nucleotide variant not provided [RCV000380901] Chr2:98397001 [GRCh38]
Chr2:99013464 [GRCh37]
Chr2:2q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.*1209del deletion Achromatopsia [RCV000261899] Chr2:98398459 [GRCh38]
Chr2:99014922 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu) single nucleotide variant Achromatopsia 2 [RCV001139596]|CNGA3-related disorder [RCV003930158]|not provided [RCV000512663]|not specified [RCV000393659] Chr2:98377728 [GRCh38]
Chr2:98994191 [GRCh37]
Chr2:2q11.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.1569C>T (p.Asn523=) single nucleotide variant Achromatopsia 2 [RCV001139696]|not provided [RCV000964405]|not specified [RCV000393061] Chr2:98396739 [GRCh38]
Chr2:99013202 [GRCh37]
Chr2:2q11.2		 benign|likely benign|uncertain significance
NM_001298.3(CNGA3):c.1597G>C (p.Asp533His) single nucleotide variant Achromatopsia 2 [RCV004689700]|Retinal dystrophy [RCV001074601]|not provided [RCV000325405] Chr2:98396767 [GRCh38]
Chr2:99013230 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.1712T>C (p.Ile571Thr) single nucleotide variant not provided [RCV000265433] Chr2:98396882 [GRCh38]
Chr2:99013345 [GRCh37]
Chr2:2q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.548G>A (p.Trp183Ter) single nucleotide variant not provided [RCV000487872] Chr2:98389756 [GRCh38]
Chr2:99006219 [GRCh37]
Chr2:2q11.2		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001298.3(CNGA3):c.1579C>A (p.Leu527Met) single nucleotide variant Achromatopsia 2 [RCV001270464] Chr2:98396749 [GRCh38]
Chr2:99013212 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) single nucleotide variant Achromatopsia 2 [RCV001139697]|Achromatopsia [RCV001002969]|not provided [RCV000488165] Chr2:98396788 [GRCh38]
Chr2:99013251 [GRCh37]
Chr2:2q11.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.*516T>C single nucleotide variant Achromatopsia 2 [RCV000303230] Chr2:98397771 [GRCh38]
Chr2:99014234 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*418T>C single nucleotide variant Achromatopsia 2 [RCV000366212] Chr2:98397673 [GRCh38]
Chr2:99014136 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*1240C>T single nucleotide variant Achromatopsia 2 [RCV000319462] Chr2:98398495 [GRCh38]
Chr2:99014958 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.2(CNGA3):c.*1351T>G single nucleotide variant Achromatopsia [RCV000349804] Chr2:98398606 [GRCh38]
Chr2:99015069 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.2(CNGA3):c.-326G>A single nucleotide variant Achromatopsia 2 [RCV000284839] Chr2:98346246 [GRCh38]
Chr2:98962709 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.-43G>A single nucleotide variant Achromatopsia 2 [RCV000336464] Chr2:98346529 [GRCh38]
Chr2:98962992 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1501A>C (p.Thr501Pro) single nucleotide variant not provided [RCV000521812] Chr2:98396671 [GRCh38]
Chr2:99013134 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1845G>T (p.Glu615Asp) single nucleotide variant Achromatopsia 2 [RCV000338039] Chr2:98397015 [GRCh38]
Chr2:99013478 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*1050A>G single nucleotide variant Achromatopsia 2 [RCV000372910] Chr2:98398305 [GRCh38]
Chr2:99014768 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1866C>T (p.Asp622=) single nucleotide variant Achromatopsia 2 [RCV000373896]|not provided [RCV001451452] Chr2:98397036 [GRCh38]
Chr2:99013499 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.1777G>A (p.Glu593Lys) single nucleotide variant Achromatopsia [RCV000596359] Chr2:98396947 [GRCh38]
Chr2:99013410 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1320del (p.Trp440fs) deletion Achromatopsia 2 [RCV001729647]|not provided [RCV000592559] Chr2:98396489 [GRCh38]
Chr2:99012952 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.-37-1G>C single nucleotide variant Achromatopsia [RCV000592774]|not provided [RCV001700230] Chr2:98369938 [GRCh38]
Chr2:98986401 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.796G>A (p.Val266Met) single nucleotide variant Achromatopsia [RCV000593473]|not provided [RCV001235929] Chr2:98395966 [GRCh38]
Chr2:99012429 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.1217T>C (p.Met406Thr) single nucleotide variant Achromatopsia [RCV000593624]|not provided [RCV001048868] Chr2:98396387 [GRCh38]
Chr2:99012850 [GRCh37]
Chr2:2q11.2		 pathogenic|uncertain significance
NM_001298.3(CNGA3):c.869G>A (p.Arg290His) single nucleotide variant Achromatopsia [RCV000597637]|CNGA3-related disorder [RCV003403409]|not provided [RCV001066140] Chr2:98396039 [GRCh38]
Chr2:99012502 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1978C>T (p.Gln660Ter) single nucleotide variant not provided [RCV000591237] Chr2:98397148 [GRCh38]
Chr2:99013611 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1595A>T (p.Asp532Val) single nucleotide variant not provided [RCV000728332] Chr2:98396765 [GRCh38]
Chr2:99013228 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) single nucleotide variant Achromatopsia 2 [RCV001353014]|not provided [RCV000732338] Chr2:98396857 [GRCh38]
Chr2:99013320 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.1320G>A (p.Trp440Ter) single nucleotide variant Achromatopsia [RCV000594314] Chr2:98396490 [GRCh38]
Chr2:99012953 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) single nucleotide variant Achromatopsia 2 [RCV001261952]|Achromatopsia [RCV001002962]|Retinal dystrophy [RCV001074985]|not provided [RCV000734467] Chr2:98395981 [GRCh38]
Chr2:99012444 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.473C>T (p.Ala158Val) single nucleotide variant Achromatopsia 2 [RCV001142222]|Inborn genetic diseases [RCV002524677]|not provided [RCV000416132] Chr2:98389681 [GRCh38]
Chr2:99006144 [GRCh37]
Chr2:2q11.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) single nucleotide variant Achromatopsia 2 [RCV001270465]|Achromatopsia [RCV000594877]|Retinal dystrophy [RCV001074687]|not provided [RCV000595551] Chr2:98391964 [GRCh38]
Chr2:99008427 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.111_113del (p.Ser39del) deletion not provided [RCV000594944] Chr2:98377694..98377696 [GRCh38]
Chr2:98994157..98994159 [GRCh37]
Chr2:2q11.2		 uncertain significance
GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) copy number gain See cases [RCV000449270] Chr2:95529039..108518266 [GRCh37]
Chr2:2q11.1-12.3		 pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13		 pathogenic
NM_001298.3(CNGA3):c.107_110del (p.His36fs) deletion Abnormality of the eye [RCV000505144]|not provided [RCV001236804] Chr2:98377691..98377694 [GRCh38]
Chr2:98994154..98994157 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1405G>A (p.Ala469Thr) single nucleotide variant Cone dystrophy [RCV000504772]|not provided [RCV001377934] Chr2:98396575 [GRCh38]
Chr2:99013038 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) single nucleotide variant Achromatopsia 2 [RCV001140913]|not provided [RCV000438002] Chr2:98391889 [GRCh38]
Chr2:99008352 [GRCh37]
Chr2:2q11.2		 benign|likely benign
GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394) copy number gain See cases [RCV000447723] Chr2:95691600..100587394 [GRCh37]
Chr2:2q11.1-11.2		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127) copy number gain See cases [RCV000511158] Chr2:95518497..107186127 [GRCh37]
Chr2:2q11.1-12.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001298.3(CNGA3):c.1741_1742del (p.Lys581fs) deletion not provided [RCV000523487] Chr2:98396910..98396911 [GRCh38]
Chr2:99013373..99013374 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1916C>A (p.Thr639Asn) single nucleotide variant Inborn genetic diseases [RCV003280192] Chr2:98397086 [GRCh38]
Chr2:99013549 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) single nucleotide variant Abnormality of the eye [RCV001814192]|Achromatopsia 2 [RCV001196267]|Achromatopsia [RCV000596662]|Macular dystrophy [RCV000678541]|Retinal dystrophy [RCV001075180]|not provided [RCV000596729] Chr2:98396449 [GRCh38]
Chr2:99012912 [GRCh37]
Chr2:2q11.2		 pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1810C>T (p.Gln604Ter) single nucleotide variant not provided [RCV000513020] Chr2:98396980 [GRCh38]
Chr2:99013443 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1310_1312delinsAG (p.Val437fs) indel Achromatopsia 2 [RCV000678542] Chr2:98396480..98396482 [GRCh38]
Chr2:99012943..99012945 [GRCh37]
Chr2:2q11.2		 pathogenic
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13		 pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3		 likely pathogenic
NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly) single nucleotide variant Achromatopsia [RCV001002961]|Inborn genetic diseases [RCV002549195] Chr2:98391964 [GRCh38]
Chr2:99008427 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) single nucleotide variant Achromatopsia 2 [RCV003329356]|Achromatopsia [RCV001002971]|not provided [RCV001238057] Chr2:98396812 [GRCh38]
Chr2:99013275 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1645G>T (p.Glu549Ter) single nucleotide variant Achromatopsia 2 [RCV001729872] Chr2:98396815 [GRCh38]
Chr2:99013278 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His) single nucleotide variant Achromatopsia 2 [RCV001729876]|not provided [RCV001865864] Chr2:98396887 [GRCh38]
Chr2:99013350 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1771T>C (p.Tyr591His) single nucleotide variant Achromatopsia 2 [RCV001729878] Chr2:98396941 [GRCh38]
Chr2:99013404 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1776C>T (p.Pro592=) single nucleotide variant not provided [RCV000958567] Chr2:98396946 [GRCh38]
Chr2:99013409 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1936C>T (p.Arg646Cys) single nucleotide variant Inborn genetic diseases [RCV002533897]|not provided [RCV000762278] Chr2:98397106 [GRCh38]
Chr2:99013569 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1981C>T (p.Arg661Cys) single nucleotide variant not provided [RCV001055561] Chr2:98397151 [GRCh38]
Chr2:99013614 [GRCh37]
Chr2:2q11.2		 pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1395_1412del (p.Lys465_Ile470del) deletion Achromatopsia 2 [RCV001729786]|not provided [RCV001058801] Chr2:98396563..98396580 [GRCh38]
Chr2:99013026..99013043 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) single nucleotide variant Achromatopsia 2 [RCV000985209]|Fabry disease [RCV004544985]|Galactosylceramide beta-galactosidase deficiency [RCV004526791]|Retinal dystrophy [RCV001073764]|not provided [RCV001092741] Chr2:98396000 [GRCh38]
Chr2:99012463 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.790T>A (p.Leu264Ile) single nucleotide variant CNGA3-related disorder [RCV003932862]|not provided [RCV000903400] Chr2:98395960 [GRCh38]
Chr2:99012423 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.353A>G (p.Gln118Arg) single nucleotide variant Achromatopsia 2 [RCV001729732]|CNGA3-related disorder [RCV003940487]|Inborn genetic diseases [RCV004028334]|not provided [RCV000884300] Chr2:98380312 [GRCh38]
Chr2:98996775 [GRCh37]
Chr2:2q11.2		 benign|uncertain significance
NM_001298.3(CNGA3):c.1863G>A (p.Ala621=) single nucleotide variant Achromatopsia 2 [RCV001140461]|not provided [RCV000882990]|not specified [RCV001701466] Chr2:98397033 [GRCh38]
Chr2:99013496 [GRCh37]
Chr2:2q11.2		 benign|likely benign|uncertain significance
NM_001298.3(CNGA3):c.633T>C (p.Asp211=) single nucleotide variant not provided [RCV000916076] Chr2:98391930 [GRCh38]
Chr2:99008393 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.81C>T (p.Arg27=) single nucleotide variant not provided [RCV000883070] Chr2:98370056 [GRCh38]
Chr2:98986519 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.907A>T (p.Ile303Phe) single nucleotide variant Retinal dystrophy [RCV001075288] Chr2:98396077 [GRCh38]
Chr2:99012540 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1856C>T (p.Ala619Val) single nucleotide variant not provided [RCV001043939] Chr2:98397026 [GRCh38]
Chr2:99013489 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.340G>T (p.Glu114Ter) single nucleotide variant Achromatopsia 2 [RCV001729789]|not provided [RCV001067275] Chr2:98380299 [GRCh38]
Chr2:98996762 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1686C>A (p.Asn562Lys) single nucleotide variant Retinal dystrophy [RCV001073296] Chr2:98396856 [GRCh38]
Chr2:99013319 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys) single nucleotide variant Achromatopsia 2 [RCV001352956]|Retinal dystrophy [RCV001074023]|not provided [RCV001362275] Chr2:98396296 [GRCh38]
Chr2:99012759 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter) indel Achromatopsia 2 [RCV001729793]|Retinal dystrophy [RCV001074037]|not provided [RCV001862817] Chr2:98380291..98380292 [GRCh38]
Chr2:98996754..98996755 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.626C>T (p.Ser209Leu) single nucleotide variant not provided [RCV001034800] Chr2:98391923 [GRCh38]
Chr2:99008386 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.1611G>A (p.Gln537=) single nucleotide variant Retinal dystrophy [RCV001074198] Chr2:98396781 [GRCh38]
Chr2:99013244 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1271T>C (p.Met424Thr) single nucleotide variant Retinal dystrophy [RCV001074460] Chr2:98396441 [GRCh38]
Chr2:99012904 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) microsatellite Achromatopsia [RCV000786011]|Retinal dystrophy [RCV001074832]|not provided [RCV001389647] Chr2:98396102..98396104 [GRCh38]
Chr2:99012565..99012567 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1116C>T (p.Pro372=) single nucleotide variant Achromatopsia 2 [RCV001137481]|CNGA3-related disorder [RCV003968196]|not provided [RCV000896390] Chr2:98396286 [GRCh38]
Chr2:99012749 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.1695G>A (p.Thr565=) single nucleotide variant not provided [RCV000906384] Chr2:98396865 [GRCh38]
Chr2:99013328 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro) single nucleotide variant Achromatopsia 2 [RCV001029776] Chr2:98391886 [GRCh38]
Chr2:99008349 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys) single nucleotide variant Achromatopsia [RCV000786010]|not provided [RCV001268815] Chr2:98396155 [GRCh38]
Chr2:99012618 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile) single nucleotide variant Achromatopsia 2 [RCV001137361]|CNGA3-related disorder [RCV003953512]|not provided [RCV001518967] Chr2:98370034 [GRCh38]
Chr2:98986497 [GRCh37]
Chr2:2q11.2		 benign|likely benign
NM_001298.3(CNGA3):c.1134T>C (p.Tyr378=) single nucleotide variant Achromatopsia 2 [RCV001137482] Chr2:98396304 [GRCh38]
Chr2:99012767 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*1085G>A single nucleotide variant Achromatopsia 2 [RCV001137578] Chr2:98398340 [GRCh38]
Chr2:99014803 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn) single nucleotide variant Achromatopsia 2 [RCV000850497]|Retinal dystrophy [RCV001073600]|not provided [RCV001384601] Chr2:98395948 [GRCh38]
Chr2:99012411 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1040G>A (p.Arg347His) single nucleotide variant not provided [RCV001051906] Chr2:98396210 [GRCh38]
Chr2:99012673 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.68G>A (p.Arg23Gln) single nucleotide variant Achromatopsia 2 [RCV001137362]|not provided [RCV001856756] Chr2:98370043 [GRCh38]
Chr2:98986506 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.129G>A (p.Ser43=) single nucleotide variant Achromatopsia 2 [RCV001139595]|not provided [RCV000914076] Chr2:98377714 [GRCh38]
Chr2:98994177 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.1114C>G (p.Pro372Ala) single nucleotide variant Cone-rod dystrophy [RCV002267757] Chr2:98396284 [GRCh38]
Chr2:99012747 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.242G>A (p.Arg81His) single nucleotide variant Inborn genetic diseases [RCV002563243]|not provided [RCV001234481] Chr2:98380201 [GRCh38]
Chr2:98996664 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.2026C>T (p.Pro676Ser) single nucleotide variant not provided [RCV001239559] Chr2:98397196 [GRCh38]
Chr2:99013659 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.946T>G (p.Trp316Gly) single nucleotide variant not provided [RCV001224965] Chr2:98396116 [GRCh38]
Chr2:99012579 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1229G>A (p.Arg410Gln) single nucleotide variant not provided [RCV001237950] Chr2:98396399 [GRCh38]
Chr2:99012862 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1334G>A (p.Trp445Ter) single nucleotide variant not provided [RCV001214874] Chr2:98396504 [GRCh38]
Chr2:99012967 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.595T>C (p.Tyr199His) single nucleotide variant not provided [RCV001242251] Chr2:98391892 [GRCh38]
Chr2:99008355 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1223C>T (p.Ala408Val) single nucleotide variant not provided [RCV001201833] Chr2:98396393 [GRCh38]
Chr2:99012856 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1254T>G (p.Asp418Glu) single nucleotide variant Achromatopsia 2 [RCV001137483] Chr2:98396424 [GRCh38]
Chr2:99012887 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*751T>C single nucleotide variant Achromatopsia 2 [RCV001137575] Chr2:98398006 [GRCh38]
Chr2:99014469 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1324_1325delinsTT (p.Asp442Phe) indel not provided [RCV001229585] Chr2:98396494..98396495 [GRCh38]
Chr2:99012957..99012958 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.499del (p.Leu167fs) deletion Achromatopsia [RCV001199462]|not provided [RCV002549227] Chr2:98389706 [GRCh38]
Chr2:99006169 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.906G>T (p.Arg302Ser) single nucleotide variant Cone dystrophy [RCV001199465]|not provided [RCV001366668] Chr2:98396076 [GRCh38]
Chr2:99012539 [GRCh37]
Chr2:2q11.2		 pathogenic|uncertain significance
NM_001298.3(CNGA3):c.396-84G>T single nucleotide variant not provided [RCV001671698] Chr2:98383304 [GRCh38]
Chr2:98999767 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.1442G>T (p.Arg481Leu) single nucleotide variant not provided [RCV002001723] Chr2:98396612 [GRCh38]
Chr2:99013075 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.111G>A (p.Ser37=) single nucleotide variant not provided [RCV000910538] Chr2:98377696 [GRCh38]
Chr2:98994159 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.1056C>T (p.Tyr352=) single nucleotide variant not provided [RCV000931768] Chr2:98396226 [GRCh38]
Chr2:99012689 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1627G>A (p.Asp543Asn) single nucleotide variant CNGA3-related disorder [RCV003912945]|not provided [RCV000906074] Chr2:98396797 [GRCh38]
Chr2:99013260 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.180C>T (p.Ser60=) single nucleotide variant not provided [RCV000898045] Chr2:98377765 [GRCh38]
Chr2:98994228 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1483G>C (p.Val495Leu) single nucleotide variant Inborn genetic diseases [RCV004033497]|not provided [RCV001201467] Chr2:98396653 [GRCh38]
Chr2:99013116 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1255T>C (p.Ser419Pro) single nucleotide variant Achromatopsia [RCV001199461] Chr2:98396425 [GRCh38]
Chr2:99012888 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.625T>C (p.Ser209Pro) single nucleotide variant Cone dystrophy [RCV001199463] Chr2:98391922 [GRCh38]
Chr2:99008385 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.704A>T (p.Asp235Val) single nucleotide variant Achromatopsia [RCV001199464] Chr2:98395874 [GRCh38]
Chr2:99012337 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1861G>A (p.Ala621Thr) single nucleotide variant Inborn genetic diseases [RCV002563195]|not provided [RCV001231009] Chr2:98397031 [GRCh38]
Chr2:99013494 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.932T>C (p.Leu311Pro) single nucleotide variant not provided [RCV001237067] Chr2:98396102 [GRCh38]
Chr2:99012565 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1862C>T (p.Ala621Val) single nucleotide variant Inborn genetic diseases [RCV004609597]|not provided [RCV001053653] Chr2:98397032 [GRCh38]
Chr2:99013495 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.471T>G (p.Asp157Glu) single nucleotide variant Achromatopsia 2 [RCV001142221]|not provided [RCV002559379] Chr2:98389679 [GRCh38]
Chr2:99006142 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.*316A>G single nucleotide variant Achromatopsia 2 [RCV001142320] Chr2:98397571 [GRCh38]
Chr2:99014034 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.79C>T (p.Arg27Cys) single nucleotide variant not provided [RCV001240640] Chr2:98370054 [GRCh38]
Chr2:98986517 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.301C>G (p.Arg101Gly) single nucleotide variant not provided [RCV001206139] Chr2:98380260 [GRCh38]
Chr2:98996723 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1427C>T (p.Thr476Met) single nucleotide variant not provided [RCV001059217] Chr2:98396597 [GRCh38]
Chr2:99013060 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1007del (p.Val336fs) deletion not provided [RCV001244004] Chr2:98396177 [GRCh38]
Chr2:99012640 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1789G>A (p.Ala597Thr) single nucleotide variant not provided [RCV001228133] Chr2:98396959 [GRCh38]
Chr2:99013422 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.189C>A (p.Gly63=) single nucleotide variant not provided [RCV000912136] Chr2:98377774 [GRCh38]
Chr2:98994237 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1278C>T (p.Phe426=) single nucleotide variant not provided [RCV000912172] Chr2:98396448 [GRCh38]
Chr2:99012911 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys) single nucleotide variant Achromatopsia 2 [RCV000984926]|not provided [RCV001858609] Chr2:98396938 [GRCh38]
Chr2:99013401 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) single nucleotide variant Achromatopsia 2 [RCV000984997]|not provided [RCV001579698] Chr2:98395992 [GRCh38]
Chr2:99012455 [GRCh37]
Chr2:2q11.2		 pathogenic|uncertain significance
NM_001298.3(CNGA3):c.408G>A (p.Leu136=) single nucleotide variant not provided [RCV000958056] Chr2:98383400 [GRCh38]
Chr2:98999863 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1658T>A (p.Leu553Gln) single nucleotide variant Achromatopsia 2 [RCV001729873]|not provided [RCV001865863] Chr2:98396828 [GRCh38]
Chr2:99013291 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.566G>A (p.Arg189Lys) single nucleotide variant Achromatopsia 2 [RCV001729887] Chr2:98389774 [GRCh38]
Chr2:99006237 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.591del (p.Glu198fs) deletion Achromatopsia 2 [RCV001729888] Chr2:98391887 [GRCh38]
Chr2:99008350 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.811C>A (p.Pro271Thr) single nucleotide variant Achromatopsia 2 [RCV001729895] Chr2:98395981 [GRCh38]
Chr2:99012444 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1366del (p.Val456fs) deletion Achromatopsia 2 [RCV001729869] Chr2:98396535 [GRCh38]
Chr2:99012998 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.215+46T>A single nucleotide variant not provided [RCV001658976] Chr2:98377846 [GRCh38]
Chr2:98994309 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.584T>C (p.Leu195Pro) single nucleotide variant Achromatopsia 2 [RCV001142225] Chr2:98391881 [GRCh38]
Chr2:99008344 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.846C>T (p.Ser282=) single nucleotide variant not provided [RCV001092742] Chr2:98396016 [GRCh38]
Chr2:99012479 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1116dup (p.Val373fs) duplication not provided [RCV001092743] Chr2:98396280..98396281 [GRCh38]
Chr2:99012743..99012744 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1705C>T (p.Arg569Cys) single nucleotide variant Achromatopsia 2 [RCV001729790]|Junctional epidermolysis bullosa gravis of Herlitz [RCV004526078]|not provided [RCV001068677] Chr2:98396875 [GRCh38]
Chr2:99013338 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr) single nucleotide variant Achromatopsia 2 [RCV001002719] Chr2:98389768 [GRCh38]
Chr2:99006231 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.-65G>C single nucleotide variant Achromatopsia 2 [RCV001137360] Chr2:98346507 [GRCh38]
Chr2:98962970 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.80G>A (p.Arg27His) single nucleotide variant Achromatopsia 2 [RCV001137363]|Inborn genetic diseases [RCV002556922]|not provided [RCV001295863] Chr2:98370055 [GRCh38]
Chr2:98986518 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.*1330A>G single nucleotide variant Achromatopsia 2 [RCV001139805] Chr2:98398585 [GRCh38]
Chr2:99015048 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1767C>T (p.Thr589=) single nucleotide variant Achromatopsia 2 [RCV001139698]|not provided [RCV001514380] Chr2:98396937 [GRCh38]
Chr2:99013400 [GRCh37]
Chr2:2q11.2		 benign|uncertain significance
NM_001298.3(CNGA3):c.1139T>C (p.Phe380Ser) single nucleotide variant not provided [RCV001211278] Chr2:98396309 [GRCh38]
Chr2:99012772 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.449+13A>G single nucleotide variant Achromatopsia 2 [RCV001140363] Chr2:98383454 [GRCh38]
Chr2:98999917 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.715C>T (p.Leu239=) single nucleotide variant Achromatopsia 2 [RCV001142226] Chr2:98395885 [GRCh38]
Chr2:99012348 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*470C>T single nucleotide variant Achromatopsia 2 [RCV001142321] Chr2:98397725 [GRCh38]
Chr2:99014188 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.2(CNGA3):c.-381A>G single nucleotide variant Achromatopsia 2 [RCV001142104] Chr2:98346191 [GRCh38]
Chr2:98962654 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.211G>A (p.Ala71Thr) single nucleotide variant Achromatopsia 2 [RCV001139600]|not provided [RCV001064853] Chr2:98377796 [GRCh38]
Chr2:98994259 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile) single nucleotide variant Achromatopsia 2 [RCV001029799] Chr2:98396255 [GRCh38]
Chr2:99012718 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1349C>T (p.Thr450Met) single nucleotide variant not provided [RCV001203580] Chr2:98396519 [GRCh38]
Chr2:99012982 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.2081A>G (p.Gln694Arg) single nucleotide variant not provided [RCV001235776] Chr2:98397251 [GRCh38]
Chr2:99013714 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1117G>A (p.Val373Met) single nucleotide variant Achromatopsia 2 [RCV001729792]|Retinal dystrophy [RCV001073683]|not provided [RCV001228298] Chr2:98396287 [GRCh38]
Chr2:99012750 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) single nucleotide variant Achromatopsia 2 [RCV001270466]|Achromatopsia [RCV001002966]|not provided [RCV001060342] Chr2:98396284 [GRCh38]
Chr2:99012747 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1021T>C (p.Ser341Pro) single nucleotide variant Retinal dystrophy [RCV001074652]|not provided [RCV001683732] Chr2:98396191 [GRCh38]
Chr2:99012654 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1974G>A (p.Met658Ile) single nucleotide variant not provided [RCV001048866] Chr2:98397144 [GRCh38]
Chr2:99013607 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.661C>T (p.Arg221Ter) single nucleotide variant not provided [RCV001236916] Chr2:98391958 [GRCh38]
Chr2:99008421 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.787T>G (p.Tyr263Asp) single nucleotide variant Retinal dystrophy [RCV001075212] Chr2:98395957 [GRCh38]
Chr2:99012420 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.724C>G (p.His242Asp) single nucleotide variant not provided [RCV001247667] Chr2:98395894 [GRCh38]
Chr2:99012357 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.649G>C (p.Asp217His) single nucleotide variant Retinal dystrophy [RCV001075512] Chr2:98391946 [GRCh38]
Chr2:99008409 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1981C>A (p.Arg661Ser) single nucleotide variant Retinal dystrophy [RCV001075514]|not provided [RCV001202143] Chr2:98397151 [GRCh38]
Chr2:99013614 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1976A>C (p.Lys659Thr) single nucleotide variant Inborn genetic diseases [RCV002551519]|not provided [RCV001042730] Chr2:98397146 [GRCh38]
Chr2:99013609 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.396-4dup duplication not provided [RCV001233701] Chr2:98383383..98383384 [GRCh38]
Chr2:98999846..98999847 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1486C>T (p.Leu496=) single nucleotide variant Achromatopsia 2 [RCV001137484]|not provided [RCV002556926] Chr2:98396656 [GRCh38]
Chr2:99013119 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.1814_1826del (p.Ile605fs) deletion not provided [RCV001236032] Chr2:98396981..98396993 [GRCh38]
Chr2:99013444..99013456 [GRCh37]
Chr2:2q11.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His) single nucleotide variant Achromatopsia 2 [RCV001140462]|not provided [RCV001071995]|not specified [RCV004689986] Chr2:98397152 [GRCh38]
Chr2:99013615 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.2059A>G (p.Thr687Ala) single nucleotide variant not provided [RCV001235110] Chr2:98397229 [GRCh38]
Chr2:99013692 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.144G>A (p.Pro48=) single nucleotide variant Achromatopsia 2 [RCV001139597]|not provided [RCV001463381] Chr2:98377729 [GRCh38]
Chr2:98994192 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.261T>G (p.His87Gln) single nucleotide variant not provided [RCV001230682] Chr2:98380220 [GRCh38]
Chr2:98996683 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.373G>A (p.Glu125Lys) single nucleotide variant Achromatopsia 2 [RCV001140360] Chr2:98380332 [GRCh38]
Chr2:98996795 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg) single nucleotide variant Achromatopsia 2 [RCV001140362]|Inborn genetic diseases [RCV002556991]|not provided [RCV001232192] Chr2:98383432 [GRCh38]
Chr2:98999895 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.478G>A (p.Val160Met) single nucleotide variant Achromatopsia 2 [RCV001142223]|not provided [RCV001858932] Chr2:98389686 [GRCh38]
Chr2:99006149 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.566+14G>A single nucleotide variant Achromatopsia 2 [RCV001142224]|not provided [RCV002070704] Chr2:98389788 [GRCh38]
Chr2:99006251 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.*269A>G single nucleotide variant Achromatopsia 2 [RCV001142319] Chr2:98397524 [GRCh38]
Chr2:99013987 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.2005G>C (p.Val669Leu) single nucleotide variant Achromatopsia 2 [RCV001140463]|not provided [RCV001466693] Chr2:98397175 [GRCh38]
Chr2:99013638 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.668G>A (p.Arg223Gln) single nucleotide variant Retinal dystrophy [RCV001073423]|not provided [RCV001092739] Chr2:98391965 [GRCh38]
Chr2:99008428 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.316G>A (p.Glu106Lys) single nucleotide variant maculopathy [RCV001002960] Chr2:98380275 [GRCh38]
Chr2:98996738 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly) single nucleotide variant Achromatopsia [RCV001002964] Chr2:98396074 [GRCh38]
Chr2:99012537 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1294del (p.Asp432fs) deletion Achromatopsia [RCV001002967] Chr2:98396463 [GRCh38]
Chr2:99012926 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.*765G>A single nucleotide variant Achromatopsia 2 [RCV001137576] Chr2:98398020 [GRCh38]
Chr2:99014483 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.*894C>T single nucleotide variant Achromatopsia 2 [RCV001137577] Chr2:98398149 [GRCh38]
Chr2:99014612 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.223C>T (p.Arg75Cys) single nucleotide variant not provided [RCV001231271] Chr2:98380182 [GRCh38]
Chr2:98996645 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) single nucleotide variant Achromatopsia 2 [RCV001784622]|Retinal dystrophy [RCV001074971]|not provided [RCV001067274] Chr2:98396485 [GRCh38]
Chr2:99012948 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1706G>A (p.Arg569His) single nucleotide variant Retinal dystrophy [RCV001074829]|not provided [RCV001068271] Chr2:98396876 [GRCh38]
Chr2:99013339 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) single nucleotide variant Achromatopsia 2 [RCV001270463]|Retinal dystrophy [RCV001074653]|not provided [RCV001092738] Chr2:98391869 [GRCh38]
Chr2:99008332 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1048A>G (p.Arg350Gly) single nucleotide variant Retinal dystrophy [RCV001074830]|not provided [RCV001300780] Chr2:98396218 [GRCh38]
Chr2:99012681 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1694C>T (p.Thr565Met) single nucleotide variant Achromatopsia 2 [RCV001784638]|Retinal dystrophy [RCV001075604]|not provided [RCV001092744] Chr2:98396864 [GRCh38]
Chr2:99013327 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1580T>C (p.Leu527Pro) single nucleotide variant Retinal dystrophy [RCV001075609] Chr2:98396750 [GRCh38]
Chr2:99013213 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.154A>G (p.Met52Val) single nucleotide variant Achromatopsia 2 [RCV001139598]|not provided [RCV004694864] Chr2:98377739 [GRCh38]
Chr2:98994202 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1784A>G (p.Lys595Arg) single nucleotide variant Achromatopsia 2 [RCV001139699] Chr2:98396954 [GRCh38]
Chr2:99013417 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1520A>G (p.Asp507Gly) single nucleotide variant Cone dystrophy [RCV001587263]|not provided [RCV001233341] Chr2:98396690 [GRCh38]
Chr2:99013153 [GRCh37]
Chr2:2q11.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.395+9C>T single nucleotide variant Achromatopsia 2 [RCV001140361]|CNGA3-related disorder [RCV003953515]|not provided [RCV002556990] Chr2:98380363 [GRCh38]
Chr2:98996826 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.215+6T>C single nucleotide variant not provided [RCV001213651] Chr2:98377806 [GRCh38]
Chr2:98994269 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.101+2dup duplication not provided [RCV001955111] Chr2:98370077..98370078 [GRCh38]
Chr2:98986540..98986541 [GRCh37]
Chr2:2q11.2		 pathogenic|uncertain significance
NM_001298.3(CNGA3):c.489_492del (p.Ser164fs) deletion not provided [RCV001268706] Chr2:98389695..98389698 [GRCh38]
Chr2:99006158..99006161 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.778dup (p.Asp260fs) duplication Achromatopsia 2 [RCV002283538]|not provided [RCV001268707] Chr2:98395947..98395948 [GRCh38]
Chr2:99012410..99012411 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.673G>A (p.Gly225Ser) single nucleotide variant not provided [RCV001317118] Chr2:98391970 [GRCh38]
Chr2:99008433 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.908T>C (p.Ile303Thr) single nucleotide variant not provided [RCV001305507] Chr2:98396078 [GRCh38]
Chr2:99012541 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.307C>T (p.Arg103Cys) single nucleotide variant Inborn genetic diseases [RCV004036368]|not provided [RCV001305778] Chr2:98380266 [GRCh38]
Chr2:98996729 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.2080_2081del (p.Gln694fs) deletion not provided [RCV001301027] Chr2:98397249..98397250 [GRCh38]
Chr2:99013712..99013713 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1807C>T (p.Arg603Trp) single nucleotide variant Inborn genetic diseases [RCV003166693]|not provided [RCV001301225] Chr2:98396977 [GRCh38]
Chr2:99013440 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.124A>G (p.Thr42Ala) single nucleotide variant not provided [RCV001325634] Chr2:98377709 [GRCh38]
Chr2:98994172 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.540C>G (p.Phe180Leu) single nucleotide variant not provided [RCV001351193] Chr2:98389748 [GRCh38]
Chr2:99006211 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1525A>G (p.Ile509Val) single nucleotide variant not provided [RCV001348872] Chr2:98396695 [GRCh38]
Chr2:99013158 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1206G>T (p.Met402Ile) single nucleotide variant not provided [RCV001321527] Chr2:98396376 [GRCh38]
Chr2:99012839 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1783A>G (p.Lys595Glu) single nucleotide variant not provided [RCV001321781] Chr2:98396953 [GRCh38]
Chr2:99013416 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.102-18G>A single nucleotide variant not provided [RCV001433081] Chr2:98377669 [GRCh38]
Chr2:98994132 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.199G>A (p.Gly67Ser) single nucleotide variant not provided [RCV001368111] Chr2:98377784 [GRCh38]
Chr2:98994247 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1128G>C (p.Glu376Asp) single nucleotide variant not provided [RCV001372680] Chr2:98396298 [GRCh38]
Chr2:99012761 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.673+5G>T single nucleotide variant not provided [RCV001372758] Chr2:98391975 [GRCh38]
Chr2:99008438 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1286T>C (p.Val429Ala) single nucleotide variant Achromatopsia 2 [RCV001270468] Chr2:98396456 [GRCh38]
Chr2:99012919 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.137T>C (p.Leu46Pro) single nucleotide variant not provided [RCV001339032] Chr2:98377722 [GRCh38]
Chr2:98994185 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1316G>A (p.Arg439Gln) single nucleotide variant not provided [RCV001370608] Chr2:98396486 [GRCh38]
Chr2:99012949 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.215+6T>A single nucleotide variant not provided [RCV001359495] Chr2:98377806 [GRCh38]
Chr2:98994269 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.101+17T>C single nucleotide variant not provided [RCV001421893] Chr2:98370093 [GRCh38]
Chr2:98986556 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.295C>T (p.Pro99Ser) single nucleotide variant not provided [RCV001312982] Chr2:98380254 [GRCh38]
Chr2:98996717 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.215+3A>G single nucleotide variant not provided [RCV001362042] Chr2:98377803 [GRCh38]
Chr2:98994266 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1468C>A (p.Leu490Met) single nucleotide variant not provided [RCV001322739] Chr2:98396638 [GRCh38]
Chr2:99013101 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.919G>A (p.Val307Ile) single nucleotide variant not provided [RCV001343497] Chr2:98396089 [GRCh38]
Chr2:99012552 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1663A>G (p.Ile555Val) single nucleotide variant not provided [RCV001344789] Chr2:98396833 [GRCh38]
Chr2:99013296 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1352T>A (p.Val451Glu) single nucleotide variant not provided [RCV001326504] Chr2:98396522 [GRCh38]
Chr2:99012985 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1712T>A (p.Ile571Asn) single nucleotide variant not provided [RCV001371571] Chr2:98396882 [GRCh38]
Chr2:99013345 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1001C>T (p.Ser334Phe) single nucleotide variant not provided [RCV001352075] Chr2:98396171 [GRCh38]
Chr2:99012634 [GRCh37]
Chr2:2q11.2		 pathogenic|uncertain significance
NM_001298.3(CNGA3):c.2044G>T (p.Val682Phe) single nucleotide variant not provided [RCV001300186] Chr2:98397214 [GRCh38]
Chr2:99013677 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.409G>A (p.Ala137Thr) single nucleotide variant not provided [RCV001301806] Chr2:98383401 [GRCh38]
Chr2:98999864 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter) indel Achromatopsia 2 [RCV001270467] Chr2:98396072..98396073 [GRCh38]
Chr2:99012535..99012536 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.141G>T (p.Gln47His) single nucleotide variant not provided [RCV001362023] Chr2:98377726 [GRCh38]
Chr2:98994189 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.150C>G (p.Ile50Met) single nucleotide variant not provided [RCV001370899] Chr2:98377735 [GRCh38]
Chr2:98994198 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.302G>A (p.Arg101His) single nucleotide variant not provided [RCV001348210] Chr2:98380261 [GRCh38]
Chr2:98996724 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1808G>C (p.Arg603Pro) single nucleotide variant not provided [RCV001324659] Chr2:98396978 [GRCh38]
Chr2:99013441 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.151G>A (p.Ala51Thr) single nucleotide variant not provided [RCV001317583] Chr2:98377736 [GRCh38]
Chr2:98994199 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.662G>A (p.Arg221Gln) single nucleotide variant not provided [RCV001318416] Chr2:98391959 [GRCh38]
Chr2:99008422 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) single nucleotide variant Achromatopsia 2 [RCV001270880] Chr2:98396450 [GRCh38]
Chr2:99012913 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer) deletion Achromatopsia 2 [RCV001270469]|not provided [RCV002542861] Chr2:98396281 [GRCh38]
Chr2:99012744 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1862C>A (p.Ala621Glu) single nucleotide variant not provided [RCV001316225] Chr2:98397032 [GRCh38]
Chr2:99013495 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1147G>C (p.Val383Leu) single nucleotide variant not provided [RCV001365456] Chr2:98396317 [GRCh38]
Chr2:99012780 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.2051G>A (p.Gly684Glu) single nucleotide variant Inborn genetic diseases [RCV003284142]|not provided [RCV001294773] Chr2:98397221 [GRCh38]
Chr2:99013684 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1819A>G (p.Met607Val) single nucleotide variant not provided [RCV001365675] Chr2:98396989 [GRCh38]
Chr2:99013452 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1537G>A (p.Gly513Arg) single nucleotide variant Achromatopsia 2 [RCV001729857]|not provided [RCV001365786] Chr2:98396707 [GRCh38]
Chr2:99013170 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1837G>A (p.Asp613Asn) single nucleotide variant Inborn genetic diseases [RCV002545611]|not provided [RCV001349467] Chr2:98397007 [GRCh38]
Chr2:99013470 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1775C>T (p.Pro592Leu) single nucleotide variant Achromatopsia 2 [RCV001729851]|not provided [RCV001337534] Chr2:98396945 [GRCh38]
Chr2:99013408 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1725C>T (p.Asp575=) single nucleotide variant not provided [RCV001440814] Chr2:98396895 [GRCh38]
Chr2:99013358 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.246G>A (p.Arg82=) single nucleotide variant not provided [RCV001485436] Chr2:98380205 [GRCh38]
Chr2:98996668 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.489G>A (p.Pro163=) single nucleotide variant not provided [RCV001490433] Chr2:98389697 [GRCh38]
Chr2:99006160 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.285G>A (p.Pro95=) single nucleotide variant not provided [RCV001454869] Chr2:98380244 [GRCh38]
Chr2:98996707 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.105C>G (p.Ala35=) single nucleotide variant not provided [RCV001454872] Chr2:98377690 [GRCh38]
Chr2:98994153 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1030G>T (p.Glu344Ter) single nucleotide variant not provided [RCV001389648] Chr2:98396200 [GRCh38]
Chr2:99012663 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.150C>T (p.Ile50=) single nucleotide variant not provided [RCV001417653] Chr2:98377735 [GRCh38]
Chr2:98994198 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.222G>A (p.Ser74=) single nucleotide variant not provided [RCV001485175] Chr2:98380181 [GRCh38]
Chr2:98996644 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.566+11G>A single nucleotide variant not provided [RCV001488762] Chr2:98389785 [GRCh38]
Chr2:99006248 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.717G>A (p.Leu239=) single nucleotide variant not provided [RCV001454929] Chr2:98395887 [GRCh38]
Chr2:99012350 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1792C>T (p.Leu598=) single nucleotide variant not provided [RCV001442628] Chr2:98396962 [GRCh38]
Chr2:99013425 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.438C>T (p.Asn146=) single nucleotide variant not provided [RCV001521738] Chr2:98383430 [GRCh38]
Chr2:98999893 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.267C>T (p.His89=) single nucleotide variant not provided [RCV001423861] Chr2:98380226 [GRCh38]
Chr2:98996689 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.519C>T (p.Thr173=) single nucleotide variant not provided [RCV001435026] Chr2:98389727 [GRCh38]
Chr2:99006190 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1413C>T (p.Asn471=) single nucleotide variant CNGA3-related disorder [RCV003965975]|not provided [RCV001481893] Chr2:98396583 [GRCh38]
Chr2:99013046 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.542A>G (p.Tyr181Cys) single nucleotide variant not provided [RCV001384600] Chr2:98389750 [GRCh38]
Chr2:99006213 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.477C>T (p.Ile159=) single nucleotide variant not provided [RCV001419839] Chr2:98389685 [GRCh38]
Chr2:99006148 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.406del (p.Leu136fs) deletion not provided [RCV001382291] Chr2:98383395 [GRCh38]
Chr2:98999858 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.777C>T (p.Thr259=) single nucleotide variant not provided [RCV001443564] Chr2:98395947 [GRCh38]
Chr2:99012410 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1827C>T (p.Asp609=) single nucleotide variant not provided [RCV001438679] Chr2:98396997 [GRCh38]
Chr2:99013460 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.566_566+1delinsAT indel not provided [RCV001379340] Chr2:98389774..98389775 [GRCh38]
Chr2:99006237..99006238 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1641C>T (p.Phe547=) single nucleotide variant CNGA3-related disorder [RCV003900545]|not provided [RCV001449267] Chr2:98396811 [GRCh38]
Chr2:99013274 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.673+1G>A single nucleotide variant not provided [RCV001385800] Chr2:98391971 [GRCh38]
Chr2:99008434 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1608C>G (p.Thr536=) single nucleotide variant not provided [RCV001403559] Chr2:98396778 [GRCh38]
Chr2:99013241 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1146C>T (p.Val382=) single nucleotide variant not provided [RCV001441904] Chr2:98396316 [GRCh38]
Chr2:99012779 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.520del (p.Ala174fs) deletion not provided [RCV001385180] Chr2:98389728 [GRCh38]
Chr2:99006191 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1495C>T (p.Arg499Ter) single nucleotide variant not provided [RCV001388582] Chr2:98396665 [GRCh38]
Chr2:99013128 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1614C>T (p.Phe538=) single nucleotide variant not provided [RCV001403112] Chr2:98396784 [GRCh38]
Chr2:99013247 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.525C>T (p.Ile175=) single nucleotide variant not provided [RCV001429410] Chr2:98389733 [GRCh38]
Chr2:99006196 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.316G>T (p.Glu106Ter) single nucleotide variant not provided [RCV001387591] Chr2:98380275 [GRCh38]
Chr2:98996738 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.781C>T (p.Leu261=) single nucleotide variant not provided [RCV001472710] Chr2:98395951 [GRCh38]
Chr2:99012414 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.354G>A (p.Gln118=) single nucleotide variant not provided [RCV001465107] Chr2:98380313 [GRCh38]
Chr2:98996776 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1520A>T (p.Asp507Val) single nucleotide variant not provided [RCV001699936] Chr2:98396690 [GRCh38]
Chr2:99013153 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.681C>T (p.Leu227=) single nucleotide variant not provided [RCV001462830] Chr2:98395851 [GRCh38]
Chr2:99012314 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.567-4T>G single nucleotide variant not provided [RCV001487414] Chr2:98391860 [GRCh38]
Chr2:99008323 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.2049C>T (p.Pro683=) single nucleotide variant not provided [RCV001462856] Chr2:98397219 [GRCh38]
Chr2:99013682 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1519del (p.Asp507fs) deletion Achromatopsia 2 [RCV001587382]|not provided [RCV002550194] Chr2:98396686 [GRCh38]
Chr2:99013149 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1368G>A (p.Val456=) single nucleotide variant not provided [RCV001473054] Chr2:98396538 [GRCh38]
Chr2:99013001 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.102-20C>T single nucleotide variant not provided [RCV001512719] Chr2:98377667 [GRCh38]
Chr2:98994130 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.210C>T (p.Ile70=) single nucleotide variant CNGA3-related disorder [RCV003956022]|not provided [RCV001467105] Chr2:98377795 [GRCh38]
Chr2:98994258 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1113C>A (p.Pro371=) single nucleotide variant not provided [RCV001406022] Chr2:98396283 [GRCh38]
Chr2:99012746 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.566+7G>A single nucleotide variant CNGA3-related disorder [RCV003900592]|not provided [RCV001460575] Chr2:98389781 [GRCh38]
Chr2:99006244 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1554G>A (p.Glu518=) single nucleotide variant not provided [RCV001462869] Chr2:98396724 [GRCh38]
Chr2:99013187 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1101T>C (p.Gly367=) single nucleotide variant CNGA3-related disorder [RCV003908760]|not provided [RCV001491409]|not specified [RCV001729923] Chr2:98396271 [GRCh38]
Chr2:99012734 [GRCh37]
Chr2:2q11.2		 benign|likely benign
NM_001298.3(CNGA3):c.921C>A (p.Val307=) single nucleotide variant not provided [RCV001461586] Chr2:98396091 [GRCh38]
Chr2:99012554 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1305G>A (p.Thr435=) single nucleotide variant not provided [RCV001457317] Chr2:98396475 [GRCh38]
Chr2:99012938 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.484del (p.Asp162fs) deletion not provided [RCV001383581] Chr2:98389691 [GRCh38]
Chr2:99006154 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1857G>A (p.Ala619=) single nucleotide variant not provided [RCV001436562] Chr2:98397027 [GRCh38]
Chr2:99013490 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1704C>T (p.Ile568=) single nucleotide variant not provided [RCV001456202] Chr2:98396874 [GRCh38]
Chr2:99013337 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1304C>T (p.Thr435Met) single nucleotide variant not provided [RCV001423837] Chr2:98396474 [GRCh38]
Chr2:99012937 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.146G>A (p.Gly49Glu) single nucleotide variant not provided [RCV001450304] Chr2:98377731 [GRCh38]
Chr2:98994194 [GRCh37]
Chr2:2q11.2		 likely benign
NC_000002.11:g.(?_98949644)_(99013718_?)del deletion not provided [RCV001386429] Chr2:98949644..99013718 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.77del (p.Asn26fs) deletion Achromatopsia 2 [RCV001725868] Chr2:98370051 [GRCh38]
Chr2:98986514 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1466G>T (p.Gly489Val) single nucleotide variant Achromatopsia 2 [RCV001729871] Chr2:98396636 [GRCh38]
Chr2:99013099 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1889T>C (p.Val630Ala) single nucleotide variant Achromatopsia 2 [RCV001729879] Chr2:98397059 [GRCh38]
Chr2:99013522 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.450-15T>G single nucleotide variant Achromatopsia 2 [RCV001729883] Chr2:98389643 [GRCh38]
Chr2:99006106 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.479T>G (p.Val160Gly) single nucleotide variant Achromatopsia 2 [RCV001729885] Chr2:98389687 [GRCh38]
Chr2:99006150 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.778G>C (p.Asp260His) single nucleotide variant Achromatopsia 2 [RCV001729894] Chr2:98395948 [GRCh38]
Chr2:99012411 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1379del (p.Leu460fs) deletion Achromatopsia 2 [RCV001729870] Chr2:98396549 [GRCh38]
Chr2:99013012 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1A>T (p.Met1Leu) single nucleotide variant Achromatopsia 2 [RCV001729863] Chr2:98369976 [GRCh38]
Chr2:98986439 [GRCh37]
Chr2:2q11.2		 uncertain significance
NC_000002.12:g.98393909_98399093del deletion Achromatopsia 2 [RCV001729908] Chr2:98393906..98399090 [GRCh38]
Chr2:99010369..99015553 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.464del (p.Lys155fs) deletion Achromatopsia 2 [RCV001729884] Chr2:98389668 [GRCh38]
Chr2:99006131 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.609G>T (p.Trp203Cys) single nucleotide variant Achromatopsia 2 [RCV001729889]|not provided [RCV001871957] Chr2:98391906 [GRCh38]
Chr2:99008369 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.851del (p.Leu284fs) deletion Achromatopsia 2 [RCV001729896] Chr2:98396021 [GRCh38]
Chr2:99012484 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.992G>A (p.Gly331Glu) single nucleotide variant Achromatopsia 2 [RCV001729898]|not provided [RCV001871958] Chr2:98396162 [GRCh38]
Chr2:99012625 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.66C>T (p.Asp22=) single nucleotide variant Achromatopsia 2 [RCV001729902] Chr2:98370041 [GRCh38]
Chr2:98986504 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1273C>T (p.Gln425Ter) single nucleotide variant Achromatopsia 2 [RCV001729868] Chr2:98396443 [GRCh38]
Chr2:99012906 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1347G>A (p.Lys449=) single nucleotide variant Achromatopsia 2 [RCV001729904]|not provided [RCV002550196] Chr2:98396517 [GRCh38]
Chr2:99012980 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.1736T>G (p.Leu579Arg) single nucleotide variant Achromatopsia 2 [RCV001729877] Chr2:98396906 [GRCh38]
Chr2:99013369 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.387del (p.Arg131fs) deletion Achromatopsia 2 [RCV001729881] Chr2:98380346 [GRCh38]
Chr2:98996809 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.544A>G (p.Asn182Asp) single nucleotide variant Achromatopsia 2 [RCV001729886] Chr2:98389752 [GRCh38]
Chr2:99006215 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.743A>G (p.Gln248Arg) single nucleotide variant Achromatopsia 2 [RCV001729892] Chr2:98395913 [GRCh38]
Chr2:99012376 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1004G>A (p.Trp335Ter) single nucleotide variant Achromatopsia 2 [RCV001729899] Chr2:98396174 [GRCh38]
Chr2:99012637 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1268A>C (p.Tyr423Ser) single nucleotide variant Achromatopsia 2 [RCV001729867] Chr2:98396438 [GRCh38]
Chr2:99012901 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1708A>G (p.Ser570Gly) single nucleotide variant Achromatopsia 2 [RCV001729875] Chr2:98396878 [GRCh38]
Chr2:99013341 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.396-2_398dup duplication Achromatopsia 2 [RCV001729882] Chr2:98383382..98383383 [GRCh38]
Chr2:98999845..98999846 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1749del (p.Leu584fs) deletion Achromatopsia [RCV001733803]|not provided [RCV002543925] Chr2:98396919 [GRCh38]
Chr2:99013382 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.384_387del (p.Asp128fs) microsatellite Achromatopsia 2 [RCV001729880] Chr2:98380339..98380342 [GRCh38]
Chr2:98996802..98996805 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.670A>G (p.Thr224Ala) single nucleotide variant Achromatopsia 2 [RCV001729890] Chr2:98391967 [GRCh38]
Chr2:99008430 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.742C>T (p.Gln248Ter) single nucleotide variant Achromatopsia 2 [RCV001729891] Chr2:98395912 [GRCh38]
Chr2:99012375 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1061A>G (p.Tyr354Cys) single nucleotide variant Achromatopsia 2 [RCV001729900]|not provided [RCV001871959] Chr2:98396231 [GRCh38]
Chr2:99012694 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1615G>A (p.Val539Met) single nucleotide variant Achromatopsia 2 [RCV001729901]|not provided [RCV002550195] Chr2:98396785 [GRCh38]
Chr2:99013248 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1076C>T (p.Ser359Phe) single nucleotide variant Achromatopsia 2 [RCV001729865] Chr2:98396246 [GRCh38]
Chr2:99012709 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1063A>G (p.Ser355Gly) single nucleotide variant Achromatopsia 2 [RCV001729864]|not provided [RCV003565480] Chr2:98396233 [GRCh38]
Chr2:99012696 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1682_1683insACGCG (p.Asn562fs) insertion Achromatopsia 2 [RCV001729874] Chr2:98396851..98396852 [GRCh38]
Chr2:99013314..99013315 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.772C>G (p.Pro258Ala) single nucleotide variant Achromatopsia 2 [RCV001729893] Chr2:98395942 [GRCh38]
Chr2:99012405 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.955_963delinsACCAATGAAATGGAAAT (p.Cys319fs) indel Achromatopsia 2 [RCV001729897] Chr2:98396125..98396133 [GRCh38]
Chr2:99012588..99012596 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.215+151T>C single nucleotide variant Achromatopsia 2 [RCV001729903] Chr2:98377951 [GRCh38]
Chr2:98994414 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.1115C>T (p.Pro372Leu) single nucleotide variant Achromatopsia 2 [RCV001729866]|not provided [RCV003771210] Chr2:98396285 [GRCh38]
Chr2:99012748 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.674-48A>C single nucleotide variant not provided [RCV001762839] Chr2:98395796 [GRCh38]
Chr2:99012259 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.1097T>C (p.Ile366Thr) single nucleotide variant not provided [RCV001816262] Chr2:98396267 [GRCh38]
Chr2:99012730 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.145G>T (p.Gly49Trp) single nucleotide variant not provided [RCV001907689] Chr2:98377730 [GRCh38]
Chr2:98994193 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.502T>C (p.Tyr168His) single nucleotide variant not provided [RCV002008209] Chr2:98389710 [GRCh38]
Chr2:99006173 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1138T>C (p.Phe380Leu) single nucleotide variant not provided [RCV001988110] Chr2:98396308 [GRCh38]
Chr2:99012771 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1647G>T (p.Glu549Asp) single nucleotide variant not provided [RCV001988806] Chr2:98396817 [GRCh38]
Chr2:99013280 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.2001C>G (p.Ser667Arg) single nucleotide variant not provided [RCV002025571] Chr2:98397171 [GRCh38]
Chr2:99013634 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.157G>C (p.Glu53Gln) single nucleotide variant not provided [RCV001970702] Chr2:98377742 [GRCh38]
Chr2:98994205 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.334A>T (p.Ser112Cys) single nucleotide variant not provided [RCV002025420] Chr2:98380293 [GRCh38]
Chr2:98996756 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.580G>A (p.Glu194Lys) single nucleotide variant not provided [RCV001864560] Chr2:98391877 [GRCh38]
Chr2:99008340 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.102-3T>C single nucleotide variant not provided [RCV001988731] Chr2:98377684 [GRCh38]
Chr2:98994147 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.575T>C (p.Phe192Ser) single nucleotide variant not provided [RCV002044134] Chr2:98391872 [GRCh38]
Chr2:99008335 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1336G>A (p.Ala446Thr) single nucleotide variant not provided [RCV001929961] Chr2:98396506 [GRCh38]
Chr2:99012969 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.245G>A (p.Arg82Lys) single nucleotide variant not provided [RCV002001762] Chr2:98380204 [GRCh38]
Chr2:98996667 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.549G>A (p.Trp183Ter) single nucleotide variant not provided [RCV001970152] Chr2:98389757 [GRCh38]
Chr2:99006220 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.785C>T (p.Ala262Val) single nucleotide variant not provided [RCV002005149] Chr2:98395955 [GRCh38]
Chr2:99012418 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1027C>T (p.Pro343Ser) single nucleotide variant not provided [RCV002023708] Chr2:98396197 [GRCh38]
Chr2:99012660 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.535G>T (p.Val179Phe) single nucleotide variant not provided [RCV001914981] Chr2:98389743 [GRCh38]
Chr2:99006206 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.95del (p.Leu32fs) deletion not provided [RCV001930054] Chr2:98370070 [GRCh38]
Chr2:98986533 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.947G>A (p.Trp316Ter) single nucleotide variant not provided [RCV001949437] Chr2:98396117 [GRCh38]
Chr2:99012580 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1673G>C (p.Ser558Thr) single nucleotide variant not provided [RCV001984289] Chr2:98396843 [GRCh38]
Chr2:99013306 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1357G>A (p.Glu453Lys) single nucleotide variant not provided [RCV002003341] Chr2:98396527 [GRCh38]
Chr2:99012990 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.982A>C (p.Ile328Leu) single nucleotide variant not provided [RCV002006659] Chr2:98396152 [GRCh38]
Chr2:99012615 [GRCh37]
Chr2:2q11.2		 uncertain significance
NC_000002.11:g.(?_98986439)_(99013718_?)dup duplication not provided [RCV002020520] Chr2:98986439..99013718 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1642G>T (p.Gly548Trp) single nucleotide variant not provided [RCV002003730] Chr2:98396812 [GRCh38]
Chr2:99013275 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.473C>A (p.Ala158Glu) single nucleotide variant not provided [RCV002005250] Chr2:98389681 [GRCh38]
Chr2:99006144 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.301C>T (p.Arg101Cys) single nucleotide variant not provided [RCV002020423] Chr2:98380260 [GRCh38]
Chr2:98996723 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.617T>C (p.Leu206Pro) single nucleotide variant not provided [RCV001984873] Chr2:98391914 [GRCh38]
Chr2:99008377 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1441C>A (p.Arg481Ser) single nucleotide variant not provided [RCV001891659] Chr2:98396611 [GRCh38]
Chr2:99013074 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1204A>G (p.Met402Val) single nucleotide variant not provided [RCV002002052] Chr2:98396374 [GRCh38]
Chr2:99012837 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.148A>G (p.Ile50Val) single nucleotide variant not provided [RCV002041541] Chr2:98377733 [GRCh38]
Chr2:98994196 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1805G>T (p.Gly602Val) single nucleotide variant not provided [RCV001910569] Chr2:98396975 [GRCh38]
Chr2:99013438 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.24C>G (p.Tyr8Ter) single nucleotide variant not provided [RCV001982910] Chr2:98369999 [GRCh38]
Chr2:98986462 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.324G>C (p.Lys108Asn) single nucleotide variant Inborn genetic diseases [RCV004612070]|not provided [RCV002005747] Chr2:98380283 [GRCh38]
Chr2:98996746 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1570G>A (p.Glu524Lys) single nucleotide variant not provided [RCV001967127] Chr2:98396740 [GRCh38]
Chr2:99013203 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.205G>A (p.Gly69Arg) single nucleotide variant not provided [RCV001987281] Chr2:98377790 [GRCh38]
Chr2:98994253 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1462G>T (p.Ala488Ser) single nucleotide variant Inborn genetic diseases [RCV004046910]|not provided [RCV002021503] Chr2:98396632 [GRCh38]
Chr2:99013095 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1747G>A (p.Asp583Asn) single nucleotide variant not provided [RCV002005858] Chr2:98396917 [GRCh38]
Chr2:99013380 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1351dup (p.Val451fs) duplication not provided [RCV001970105] Chr2:98396519..98396520 [GRCh38]
Chr2:99012982..99012983 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1065T>G (p.Ser355Arg) single nucleotide variant not provided [RCV002043304] Chr2:98396235 [GRCh38]
Chr2:99012698 [GRCh37]
Chr2:2q11.2		 pathogenic|uncertain significance
NM_001298.3(CNGA3):c.603G>C (p.Met201Ile) single nucleotide variant not provided [RCV002005671] Chr2:98391900 [GRCh38]
Chr2:99008363 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1319G>C (p.Trp440Ser) single nucleotide variant not provided [RCV001912145] Chr2:98396489 [GRCh38]
Chr2:99012952 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1331T>C (p.Leu444Pro) single nucleotide variant not provided [RCV002003523] Chr2:98396501 [GRCh38]
Chr2:99012964 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.82G>C (p.Ala28Pro) single nucleotide variant not provided [RCV001986757] Chr2:98370057 [GRCh38]
Chr2:98986520 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.2074A>C (p.Lys692Gln) single nucleotide variant not provided [RCV002023301] Chr2:98397244 [GRCh38]
Chr2:99013707 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1795G>A (p.Glu599Lys) single nucleotide variant not provided [RCV001911210] Chr2:98396965 [GRCh38]
Chr2:99013428 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1939C>T (p.Leu647Phe) single nucleotide variant not provided [RCV002038086] Chr2:98397109 [GRCh38]
Chr2:99013572 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1565T>C (p.Ile522Thr) single nucleotide variant not provided [RCV001943982] Chr2:98396735 [GRCh38]
Chr2:99013198 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1957G>A (p.Ala653Thr) single nucleotide variant Inborn genetic diseases [RCV002657643]|not provided [RCV002010376] Chr2:98397127 [GRCh38]
Chr2:99013590 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1074G>A (p.Trp358Ter) single nucleotide variant not provided [RCV001992400] Chr2:98396244 [GRCh38]
Chr2:99012707 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.2015G>T (p.Gly672Val) single nucleotide variant not provided [RCV002000375] Chr2:98397185 [GRCh38]
Chr2:99013648 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.931C>T (p.Leu311Phe) single nucleotide variant not provided [RCV002049537] Chr2:98396101 [GRCh38]
Chr2:99012564 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.509G>T (p.Arg170Leu) single nucleotide variant not provided [RCV002020262] Chr2:98389717 [GRCh38]
Chr2:99006180 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1655T>C (p.Ile552Thr) single nucleotide variant not provided [RCV001961917] Chr2:98396825 [GRCh38]
Chr2:99013288 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.386G>C (p.Arg129Thr) single nucleotide variant not provided [RCV002038704] Chr2:98380345 [GRCh38]
Chr2:98996808 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.731A>G (p.Lys244Arg) single nucleotide variant not provided [RCV002037405] Chr2:98395901 [GRCh38]
Chr2:99012364 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1201T>C (p.Ser401Pro) single nucleotide variant not provided [RCV001982516] Chr2:98396371 [GRCh38]
Chr2:99012834 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1541A>T (p.Asp514Val) single nucleotide variant not provided [RCV001982530] Chr2:98396711 [GRCh38]
Chr2:99013174 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.450-1G>A single nucleotide variant Achromatopsia 2 [RCV002471201]|CNGA3-related disorder [RCV003408009]|not provided [RCV001941629] Chr2:98389657 [GRCh38]
Chr2:99006120 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1319G>A (p.Trp440Ter) single nucleotide variant not provided [RCV002000179] Chr2:98396489 [GRCh38]
Chr2:99012952 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1183A>G (p.Ile395Val) single nucleotide variant not provided [RCV001962246] Chr2:98396353 [GRCh38]
Chr2:99012816 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.266A>G (p.His89Arg) single nucleotide variant not provided [RCV002049071] Chr2:98380225 [GRCh38]
Chr2:98996688 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1641C>G (p.Phe547Leu) single nucleotide variant not provided [RCV001942579] Chr2:98396811 [GRCh38]
Chr2:99013274 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.842T>C (p.Phe281Ser) single nucleotide variant not provided [RCV001954187] Chr2:98396012 [GRCh38]
Chr2:99012475 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.767T>C (p.Leu256Pro) single nucleotide variant not provided [RCV002016916] Chr2:98395937 [GRCh38]
Chr2:99012400 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1316G>T (p.Arg439Leu) single nucleotide variant not provided [RCV001994421] Chr2:98396486 [GRCh38]
Chr2:99012949 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1282A>G (p.Lys428Glu) single nucleotide variant not provided [RCV001958249] Chr2:98396452 [GRCh38]
Chr2:99012915 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.825C>G (p.Phe275Leu) single nucleotide variant not provided [RCV001957149] Chr2:98395995 [GRCh38]
Chr2:99012458 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.674-1G>C single nucleotide variant not provided [RCV001923064] Chr2:98395843 [GRCh38]
Chr2:99012306 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.808T>C (p.Tyr270His) single nucleotide variant not provided [RCV002048471] Chr2:98395978 [GRCh38]
Chr2:99012441 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1250T>C (p.Ile417Thr) single nucleotide variant Inborn genetic diseases [RCV002569308]|not provided [RCV001973312] Chr2:98396420 [GRCh38]
Chr2:99012883 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1132T>A (p.Tyr378Asn) single nucleotide variant not provided [RCV001878102] Chr2:98396302 [GRCh38]
Chr2:99012765 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.566G>T (p.Arg189Met) single nucleotide variant not provided [RCV001977719] Chr2:98389774 [GRCh38]
Chr2:99006237 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1929G>T (p.Arg643Ser) single nucleotide variant not provided [RCV001917321] Chr2:98397099 [GRCh38]
Chr2:99013562 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.485A>T (p.Asp162Val) single nucleotide variant Achromatopsia 2 [RCV003388620]|not provided [RCV001956242] Chr2:98389693 [GRCh38]
Chr2:99006156 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001298.3(CNGA3):c.57G>T (p.Lys19Asn) single nucleotide variant not provided [RCV001972317] Chr2:98370032 [GRCh38]
Chr2:98986495 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.187G>A (p.Gly63Ser) single nucleotide variant not provided [RCV001956865] Chr2:98377772 [GRCh38]
Chr2:98994235 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.9del (p.Ile4fs) deletion not provided [RCV001994871] Chr2:98369984 [GRCh38]
Chr2:98986447 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.524T>C (p.Ile175Thr) single nucleotide variant not provided [RCV001957510] Chr2:98389732 [GRCh38]
Chr2:99006195 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.79_90del (p.Arg27_Asn30del) deletion not provided [RCV001923849] Chr2:98370051..98370062 [GRCh38]
Chr2:98986514..98986525 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.79C>G (p.Arg27Gly) single nucleotide variant not provided [RCV002013073] Chr2:98370054 [GRCh38]
Chr2:98986517 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1462G>A (p.Ala488Thr) single nucleotide variant not provided [RCV001940942] Chr2:98396632 [GRCh38]
Chr2:99013095 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1142T>A (p.Val381Glu) single nucleotide variant not provided [RCV002035680] Chr2:98396312 [GRCh38]
Chr2:99012775 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1267dup (p.Tyr423fs) duplication not provided [RCV001960506] Chr2:98396436..98396437 [GRCh38]
Chr2:99012899..99012900 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.77A>G (p.Asn26Ser) single nucleotide variant not provided [RCV001935555] Chr2:98370052 [GRCh38]
Chr2:98986515 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1956C>A (p.Asn652Lys) single nucleotide variant not provided [RCV001996036] Chr2:98397126 [GRCh38]
Chr2:99013589 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.674-1G>A single nucleotide variant Achromatopsia 2 [RCV002246568]|not provided [RCV001875238] Chr2:98395843 [GRCh38]
Chr2:99012306 [GRCh37]
Chr2:2q11.2		 pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1609del (p.Gln537fs) deletion not provided [RCV001958870] Chr2:98396777 [GRCh38]
Chr2:99013240 [GRCh37]
Chr2:2q11.2		 pathogenic|conflicting interpretations of pathogenicity
NM_001298.3(CNGA3):c.2041G>A (p.Glu681Lys) single nucleotide variant not provided [RCV001980862] Chr2:98397211 [GRCh38]
Chr2:99013674 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.587A>G (p.Gln196Arg) single nucleotide variant not provided [RCV002035048] Chr2:98391884 [GRCh38]
Chr2:99008347 [GRCh37]
Chr2:2q11.2		 pathogenic|likely pathogenic
NM_001298.3(CNGA3):c.1280G>A (p.Arg427His) single nucleotide variant not provided [RCV002018649] Chr2:98396450 [GRCh38]
Chr2:99012913 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1937G>A (p.Arg646His) single nucleotide variant not provided [RCV001925434] Chr2:98397107 [GRCh38]
Chr2:99013570 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.90T>A (p.Asn30Lys) single nucleotide variant not provided [RCV002031478] Chr2:98370065 [GRCh38]
Chr2:98986528 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.532C>T (p.Pro178Ser) single nucleotide variant not provided [RCV001977679] Chr2:98389740 [GRCh38]
Chr2:99006203 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.99C>A (p.Ser33Arg) single nucleotide variant not provided [RCV002015112] Chr2:98370074 [GRCh38]
Chr2:98986537 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1106C>T (p.Thr369Ile) single nucleotide variant not provided [RCV002015287] Chr2:98396276 [GRCh38]
Chr2:99012739 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.102A>G (p.Arg34=) single nucleotide variant not provided [RCV001918838] Chr2:98377687 [GRCh38]
Chr2:98994150 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.395+4A>G single nucleotide variant not provided [RCV001920855] Chr2:98380358 [GRCh38]
Chr2:98996821 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.450-12G>A single nucleotide variant not provided [RCV002085920] Chr2:98389646 [GRCh38]
Chr2:99006109 [GRCh37]
Chr2:2q11.2		 benign
NM_001298.3(CNGA3):c.1002C>T (p.Ser334=) single nucleotide variant not provided [RCV002188842] Chr2:98396172 [GRCh38]
Chr2:99012635 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.735G>A (p.Thr245=) single nucleotide variant not provided [RCV002148738] Chr2:98395905 [GRCh38]
Chr2:99012368 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.474G>A (p.Ala158=) single nucleotide variant not provided [RCV002186093] Chr2:98389682 [GRCh38]
Chr2:99006145 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1350G>A (p.Thr450=) single nucleotide variant not provided [RCV002129301] Chr2:98396520 [GRCh38]
Chr2:99012983 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.395+10G>C single nucleotide variant not provided [RCV002166897] Chr2:98380364 [GRCh38]
Chr2:98996827 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1386C>T (p.Asp462=) single nucleotide variant not provided [RCV002106292] Chr2:98396556 [GRCh38]
Chr2:99013019 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1437G>A (p.Lys479=) single nucleotide variant not provided [RCV002110936] Chr2:98396607 [GRCh38]
Chr2:99013070 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.673+15G>C single nucleotide variant not provided [RCV002164956] Chr2:98391985 [GRCh38]
Chr2:99008448 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1902G>T (p.Gly634=) single nucleotide variant not provided [RCV002192978] Chr2:98397072 [GRCh38]
Chr2:99013535 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.545A>G (p.Asn182Ser) single nucleotide variant Achromatopsia 2 [RCV002248992] Chr2:98389753 [GRCh38]
Chr2:99006216 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1986C>G (p.Leu662=) single nucleotide variant not provided [RCV002168389] Chr2:98397156 [GRCh38]
Chr2:99013619 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.673+7G>A single nucleotide variant not provided [RCV002124369] Chr2:98391977 [GRCh38]
Chr2:99008440 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.566+17G>A single nucleotide variant not provided [RCV002153885] Chr2:98389791 [GRCh38]
Chr2:99006254 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.978G>A (p.Lys326=) single nucleotide variant not provided [RCV002081153] Chr2:98396148 [GRCh38]
Chr2:99012611 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1428G>A (p.Thr476=) single nucleotide variant not provided [RCV002093238] Chr2:98396598 [GRCh38]
Chr2:99013061 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1890G>A (p.Val630=) single nucleotide variant not provided [RCV002135235] Chr2:98397060 [GRCh38]
Chr2:99013523 [GRCh37]
Chr2:2q11.2		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001298.3(CNGA3):c.2073C>T (p.Asp691=) single nucleotide variant not provided [RCV002151017] Chr2:98397243 [GRCh38]
Chr2:99013706 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.216-4C>T single nucleotide variant not provided [RCV002074735] Chr2:98380171 [GRCh38]
Chr2:98996634 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.441G>C (p.Thr147=) single nucleotide variant not provided [RCV002146599] Chr2:98383433 [GRCh38]
Chr2:98999896 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.654G>C (p.Val218=) single nucleotide variant not provided [RCV002150102] Chr2:98391951 [GRCh38]
Chr2:99008414 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.567-13A>C single nucleotide variant not provided [RCV002150955] Chr2:98391851 [GRCh38]
Chr2:99008314 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.939C>T (p.Ile313=) single nucleotide variant not provided [RCV002173810] Chr2:98396109 [GRCh38]
Chr2:99012572 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.215+10C>T single nucleotide variant not provided [RCV002076804] Chr2:98377810 [GRCh38]
Chr2:98994273 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.395+14AAG[2] microsatellite not provided [RCV002094812] Chr2:98380368..98380370 [GRCh38]
Chr2:98996831..98996833 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.224G>A (p.Arg75His) single nucleotide variant not provided [RCV002113824] Chr2:98380183 [GRCh38]
Chr2:98996646 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.102-16A>C single nucleotide variant not provided [RCV002151528] Chr2:98377671 [GRCh38]
Chr2:98994134 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.393A>G (p.Arg131=) single nucleotide variant not provided [RCV002157260] Chr2:98380352 [GRCh38]
Chr2:98996815 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.734C>T (p.Thr245Met) single nucleotide variant not provided [RCV002175248] Chr2:98395904 [GRCh38]
Chr2:99012367 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.741G>A (p.Thr247=) single nucleotide variant not provided [RCV002121392] Chr2:98395911 [GRCh38]
Chr2:99012374 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1764C>T (p.Leu588=) single nucleotide variant not provided [RCV002175561] Chr2:98396934 [GRCh38]
Chr2:99013397 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.48C>G (p.Leu16=) single nucleotide variant not provided [RCV002218965] Chr2:98370023 [GRCh38]
Chr2:98986486 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1461G>A (p.Glu487=) single nucleotide variant not provided [RCV002120719] Chr2:98396631 [GRCh38]
Chr2:99013094 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.459G>A (p.Thr153=) single nucleotide variant not provided [RCV002202933] Chr2:98389667 [GRCh38]
Chr2:99006130 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1584C>A (p.Ala528=) single nucleotide variant not provided [RCV002202941] Chr2:98396754 [GRCh38]
Chr2:99013217 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.579T>C (p.Asp193=) single nucleotide variant not provided [RCV002176896] Chr2:98391876 [GRCh38]
Chr2:99008339 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.216-17C>T single nucleotide variant not provided [RCV002162849] Chr2:98380158 [GRCh38]
Chr2:98996621 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.567-11G>T single nucleotide variant not provided [RCV002161154] Chr2:98391853 [GRCh38]
Chr2:99008316 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1956C>T (p.Asn652=) single nucleotide variant not provided [RCV002176122] Chr2:98397126 [GRCh38]
Chr2:99013589 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.129G>T (p.Ser43=) single nucleotide variant not provided [RCV002136305] Chr2:98377714 [GRCh38]
Chr2:98994177 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.753G>T (p.Leu251=) single nucleotide variant not provided [RCV002136618] Chr2:98395923 [GRCh38]
Chr2:99012386 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.183G>A (p.Gly61=) single nucleotide variant not provided [RCV002176735] Chr2:98377768 [GRCh38]
Chr2:98994231 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1881G>A (p.Glu627=) single nucleotide variant not provided [RCV002139345] Chr2:98397051 [GRCh38]
Chr2:99013514 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.396-14C>G single nucleotide variant not provided [RCV002161591] Chr2:98383374 [GRCh38]
Chr2:98999837 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.566+10del deletion not provided [RCV002183617] Chr2:98389784 [GRCh38]
Chr2:99006247 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.495C>T (p.Ser165=) single nucleotide variant not provided [RCV002156548] Chr2:98389703 [GRCh38]
Chr2:99006166 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.93C>A (p.Gly31=) single nucleotide variant not provided [RCV002178088] Chr2:98370068 [GRCh38]
Chr2:98986531 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1194T>C (p.Asn398=) single nucleotide variant not provided [RCV002160885] Chr2:98396364 [GRCh38]
Chr2:99012827 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.441G>T (p.Thr147=) single nucleotide variant not provided [RCV002144670] Chr2:98383433 [GRCh38]
Chr2:98999896 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1235_1236del (p.Glu412fs) microsatellite Achromatopsia 2 [RCV002248369] Chr2:98396403..98396404 [GRCh38]
Chr2:99012866..99012867 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter) single nucleotide variant Achromatopsia 2 [RCV002251195]|not provided [RCV003101371] Chr2:98370037 [GRCh38]
Chr2:98986500 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.162_163insT (p.Arg55Ter) insertion not provided [RCV002287958] Chr2:98377747..98377748 [GRCh38]
Chr2:98994210..98994211 [GRCh37]
Chr2:2q11.2		 pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2q11.2(chr2:98958721-99205212)x3 copy number gain not provided [RCV002472708] Chr2:98958721..99205212 [GRCh37]
Chr2:2q11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3 copy number gain not provided [RCV002473932] Chr2:95341388..100340514 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
NM_001298.3(CNGA3):c.674-7T>G single nucleotide variant not provided [RCV002991696] Chr2:98395837 [GRCh38]
Chr2:99012300 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.212C>T (p.Ala71Val) single nucleotide variant not provided [RCV002295912] Chr2:98377797 [GRCh38]
Chr2:98994260 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.775A>C (p.Thr259Pro) single nucleotide variant not provided [RCV002303163] Chr2:98395945 [GRCh38]
Chr2:99012408 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.755A>G (p.Asp252Gly) single nucleotide variant not provided [RCV002617000] Chr2:98395925 [GRCh38]
Chr2:99012388 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.572G>C (p.Cys191Ser) single nucleotide variant not provided [RCV003015132] Chr2:98391869 [GRCh38]
Chr2:99008332 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.181G>C (p.Gly61Arg) single nucleotide variant not provided [RCV002613743] Chr2:98377766 [GRCh38]
Chr2:98994229 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.102-4C>T single nucleotide variant not provided [RCV002681518] Chr2:98377683 [GRCh38]
Chr2:98994146 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.2052G>A (p.Gly684=) single nucleotide variant not provided [RCV002686179] Chr2:98397222 [GRCh38]
Chr2:99013685 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.781C>G (p.Leu261Val) single nucleotide variant not provided [RCV002994704] Chr2:98395951 [GRCh38]
Chr2:99012414 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.4G>C (p.Ala2Pro) single nucleotide variant not provided [RCV002972495] Chr2:98369979 [GRCh38]
Chr2:98986442 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.814G>T (p.Glu272Ter) single nucleotide variant not provided [RCV002815521] Chr2:98395984 [GRCh38]
Chr2:99012447 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1596T>C (p.Asp532=) single nucleotide variant not provided [RCV002820145] Chr2:98396766 [GRCh38]
Chr2:99013229 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.74T>C (p.Leu25Pro) single nucleotide variant not provided [RCV002511980] Chr2:98370049 [GRCh38]
Chr2:98986512 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1925C>A (p.Thr642Asn) single nucleotide variant not provided [RCV002908687] Chr2:98397095 [GRCh38]
Chr2:99013558 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.271C>T (p.Gln91Ter) single nucleotide variant Achromatopsia 2 [RCV003993686]|not provided [RCV002618629] Chr2:98380230 [GRCh38]
Chr2:98996693 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.241C>T (p.Arg81Cys) single nucleotide variant not provided [RCV002861345] Chr2:98380200 [GRCh38]
Chr2:98996663 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.453G>A (p.Lys151=) single nucleotide variant not provided [RCV003016246] Chr2:98389661 [GRCh38]
Chr2:99006124 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.961T>C (p.Tyr321His) single nucleotide variant not provided [RCV002617585] Chr2:98396131 [GRCh38]
Chr2:99012594 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1107C>T (p.Thr369=) single nucleotide variant not provided [RCV002681899] Chr2:98396277 [GRCh38]
Chr2:99012740 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1107C>A (p.Thr369=) single nucleotide variant not provided [RCV002843601] Chr2:98396277 [GRCh38]
Chr2:99012740 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.2054A>G (p.Asp685Gly) single nucleotide variant not provided [RCV003016082] Chr2:98397224 [GRCh38]
Chr2:99013687 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1679C>A (p.Ser560Ter) single nucleotide variant not provided [RCV003013825] Chr2:98396849 [GRCh38]
Chr2:99013312 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.87A>C (p.Glu29Asp) single nucleotide variant not provided [RCV003034831] Chr2:98370062 [GRCh38]
Chr2:98986525 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.519C>G (p.Thr173=) single nucleotide variant not provided [RCV002861622] Chr2:98389727 [GRCh38]
Chr2:99006190 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1212G>A (p.Ser404=) single nucleotide variant not provided [RCV002972602] Chr2:98396382 [GRCh38]
Chr2:99012845 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1087C>T (p.Leu363Phe) single nucleotide variant not provided [RCV002843269] Chr2:98396257 [GRCh38]
Chr2:99012720 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.567-13A>G single nucleotide variant not provided [RCV002847272] Chr2:98391851 [GRCh38]
Chr2:99008314 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.661C>G (p.Arg221Gly) single nucleotide variant not provided [RCV002761029] Chr2:98391958 [GRCh38]
Chr2:99008421 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.455A>G (p.Lys152Arg) single nucleotide variant not provided [RCV002593044] Chr2:98389663 [GRCh38]
Chr2:99006126 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.531G>C (p.Leu177=) single nucleotide variant not provided [RCV002785767] Chr2:98389739 [GRCh38]
Chr2:99006202 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1715G>A (p.Gly572Asp) single nucleotide variant not provided [RCV002796616] Chr2:98396885 [GRCh38]
Chr2:99013348 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.2019G>A (p.Gly673=) single nucleotide variant not provided [RCV002999923] Chr2:98397189 [GRCh38]
Chr2:99013652 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.852C>T (p.Leu284=) single nucleotide variant not provided [RCV002846995] Chr2:98396022 [GRCh38]
Chr2:99012485 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1510A>G (p.Ser504Gly) single nucleotide variant Inborn genetic diseases [RCV002737747] Chr2:98396680 [GRCh38]
Chr2:99013143 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1725C>A (p.Asp575Glu) single nucleotide variant not provided [RCV002975696] Chr2:98396895 [GRCh38]
Chr2:99013358 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.567-13_567-12delinsCA indel not provided [RCV002867242] Chr2:98391851..98391852 [GRCh38]
Chr2:99008314..99008315 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.702T>C (p.Ser234=) single nucleotide variant not provided [RCV002847236] Chr2:98395872 [GRCh38]
Chr2:99012335 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1950G>A (p.Glu650=) single nucleotide variant not provided [RCV002659072] Chr2:98397120 [GRCh38]
Chr2:99013583 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.896A>G (p.Asn299Ser) single nucleotide variant not provided [RCV002889364] Chr2:98396066 [GRCh38]
Chr2:99012529 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.332C>G (p.Ser111Cys) single nucleotide variant Inborn genetic diseases [RCV002925453] Chr2:98380291 [GRCh38]
Chr2:98996754 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.588G>A (p.Gln196=) single nucleotide variant not provided [RCV002912510] Chr2:98391885 [GRCh38]
Chr2:99008348 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.122A>G (p.Glu41Gly) single nucleotide variant not provided [RCV002820429] Chr2:98377707 [GRCh38]
Chr2:98994170 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.597C>T (p.Tyr199=) single nucleotide variant not provided [RCV002569797] Chr2:98391894 [GRCh38]
Chr2:99008357 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1200C>T (p.Gly400=) single nucleotide variant not provided [RCV002571059] Chr2:98396370 [GRCh38]
Chr2:99012833 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.919dup (p.Val307fs) duplication not provided [RCV003001884] Chr2:98396087..98396088 [GRCh38]
Chr2:99012550..99012551 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1551G>A (p.Lys517=) single nucleotide variant not provided [RCV002910121] Chr2:98396721 [GRCh38]
Chr2:99013184 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.216-1G>A single nucleotide variant not provided [RCV002659602] Chr2:98380174 [GRCh38]
Chr2:98996637 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.450-20G>A single nucleotide variant not provided [RCV002979756] Chr2:98389638 [GRCh38]
Chr2:99006101 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.959T>C (p.Ile320Thr) single nucleotide variant not provided [RCV002998865] Chr2:98396129 [GRCh38]
Chr2:99012592 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.927C>T (p.Tyr309=) single nucleotide variant not provided [RCV002639624] Chr2:98396097 [GRCh38]
Chr2:99012560 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.509G>A (p.Arg170His) single nucleotide variant not provided [RCV002923939] Chr2:98389717 [GRCh38]
Chr2:99006180 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1332G>A (p.Leu444=) single nucleotide variant not provided [RCV003079537] Chr2:98396502 [GRCh38]
Chr2:99012965 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1338C>T (p.Ala446=) single nucleotide variant not provided [RCV002876770] Chr2:98396508 [GRCh38]
Chr2:99012971 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.636C>T (p.Val212=) single nucleotide variant not provided [RCV002954093] Chr2:98391933 [GRCh38]
Chr2:99008396 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1871A>G (p.Lys624Arg) single nucleotide variant not provided [RCV002645813] Chr2:98397041 [GRCh38]
Chr2:99013504 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.541T>C (p.Tyr181His) single nucleotide variant not provided [RCV002852990] Chr2:98389749 [GRCh38]
Chr2:99006212 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.253G>A (p.Ala85Thr) single nucleotide variant not provided [RCV002895001] Chr2:98380212 [GRCh38]
Chr2:98996675 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1629T>C (p.Asp543=) single nucleotide variant not provided [RCV002745538] Chr2:98396799 [GRCh38]
Chr2:99013262 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.2019G>T (p.Gly673=) single nucleotide variant not provided [RCV002643864] Chr2:98397189 [GRCh38]
Chr2:99013652 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.2010G>C (p.Lys670Asn) single nucleotide variant not provided [RCV002954269] Chr2:98397180 [GRCh38]
Chr2:99013643 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.336C>T (p.Ser112=) single nucleotide variant not provided [RCV002593494] Chr2:98380295 [GRCh38]
Chr2:98996758 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.488C>A (p.Pro163Gln) single nucleotide variant Inborn genetic diseases [RCV002917085]|not provided [RCV003679154] Chr2:98389696 [GRCh38]
Chr2:99006159 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.1091C>A (p.Thr364Asn) single nucleotide variant not provided [RCV003040005] Chr2:98396261 [GRCh38]
Chr2:99012724 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.283C>T (p.Pro95Ser) single nucleotide variant not provided [RCV002875941] Chr2:98380242 [GRCh38]
Chr2:98996705 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.848G>C (p.Arg283Pro) single nucleotide variant not provided [RCV002828538] Chr2:98396018 [GRCh38]
Chr2:99012481 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1158G>A (p.Leu386=) single nucleotide variant not provided [RCV002853412] Chr2:98396328 [GRCh38]
Chr2:99012791 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.395+19G>C single nucleotide variant not provided [RCV002830141] Chr2:98380373 [GRCh38]
Chr2:98996836 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.705_706dup (p.Thr236fs) duplication not provided [RCV003039850] Chr2:98395873..98395874 [GRCh38]
Chr2:99012336..99012337 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.27C>A (p.Ser9=) single nucleotide variant not provided [RCV002876109] Chr2:98370002 [GRCh38]
Chr2:98986465 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.102-17_102-16inv inversion not provided [RCV002957786] Chr2:98377670..98377671 [GRCh38]
Chr2:98994133..98994134 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1260C>A (p.Ile420=) single nucleotide variant not provided [RCV002667707] Chr2:98396430 [GRCh38]
Chr2:99012893 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.567-12T>C single nucleotide variant not provided [RCV002575277] Chr2:98391852 [GRCh38]
Chr2:99008315 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.929T>C (p.Ile310Thr) single nucleotide variant not provided [RCV002918309] Chr2:98396099 [GRCh38]
Chr2:99012562 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.82G>A (p.Ala28Thr) single nucleotide variant Inborn genetic diseases [RCV003167939]|not provided [RCV002932211] Chr2:98370057 [GRCh38]
Chr2:98986520 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1443dup (p.Ile482fs) duplication Achromatopsia 2 [RCV003329464]|not provided [RCV002664249] Chr2:98396612..98396613 [GRCh38]
Chr2:99013075..99013076 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.587A>T (p.Gln196Leu) single nucleotide variant not provided [RCV003030097] Chr2:98391884 [GRCh38]
Chr2:99008347 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.50A>G (p.Lys17Arg) single nucleotide variant not provided [RCV003031226] Chr2:98370025 [GRCh38]
Chr2:98986488 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1580T>G (p.Leu527Arg) single nucleotide variant not provided [RCV002651494] Chr2:98396750 [GRCh38]
Chr2:99013213 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1110del (p.Pro372_Val373insTer) deletion not provided [RCV002833097] Chr2:98396280 [GRCh38]
Chr2:99012743 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.221C>G (p.Ser74Trp) single nucleotide variant not provided [RCV002933559] Chr2:98380180 [GRCh38]
Chr2:98996643 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1616T>C (p.Val539Ala) single nucleotide variant Inborn genetic diseases [RCV003161789]|not provided [RCV003088323] Chr2:98396786 [GRCh38]
Chr2:99013249 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1236G>T (p.Glu412Asp) single nucleotide variant not provided [RCV003044994] Chr2:98396406 [GRCh38]
Chr2:99012869 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.308G>T (p.Arg103Leu) single nucleotide variant not provided [RCV002834741] Chr2:98380267 [GRCh38]
Chr2:98996730 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1269C>T (p.Tyr423=) single nucleotide variant not provided [RCV002671621] Chr2:98396439 [GRCh38]
Chr2:99012902 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1443C>T (p.Arg481=) single nucleotide variant not provided [RCV002806986] Chr2:98396613 [GRCh38]
Chr2:99013076 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.159G>A (p.Glu53=) single nucleotide variant not provided [RCV002898666] Chr2:98377744 [GRCh38]
Chr2:98994207 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.640T>C (p.Tyr214His) single nucleotide variant not provided [RCV002672013] Chr2:98391937 [GRCh38]
Chr2:99008400 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1941C>T (p.Leu647=) single nucleotide variant not provided [RCV002650660] Chr2:98397111 [GRCh38]
Chr2:99013574 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.216-12G>C single nucleotide variant not provided [RCV002631042] Chr2:98380163 [GRCh38]
Chr2:98996626 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1229G>T (p.Arg410Leu) single nucleotide variant not provided [RCV003047338] Chr2:98396399 [GRCh38]
Chr2:99012862 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.281G>C (p.Gly94Ala) single nucleotide variant not provided [RCV003028327] Chr2:98380240 [GRCh38]
Chr2:98996703 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1402A>C (p.Ile468Leu) single nucleotide variant Inborn genetic diseases [RCV004065586]|not provided [RCV002578869] Chr2:98396572 [GRCh38]
Chr2:99013035 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.600G>C (p.Leu200=) single nucleotide variant not provided [RCV002645864] Chr2:98391897 [GRCh38]
Chr2:99008360 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1793T>C (p.Leu598Pro) single nucleotide variant not provided [RCV002807231] Chr2:98396963 [GRCh38]
Chr2:99013426 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.209T>C (p.Ile70Thr) single nucleotide variant not provided [RCV002580987] Chr2:98377794 [GRCh38]
Chr2:98994257 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.344G>C (p.Ser115Thr) single nucleotide variant Inborn genetic diseases [RCV002831575] Chr2:98380303 [GRCh38]
Chr2:98996766 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.147dup (p.Ile50fs) duplication not provided [RCV002651491] Chr2:98377728..98377729 [GRCh38]
Chr2:98994191..98994192 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1036G>T (p.Gly346Trp) single nucleotide variant not provided [RCV002725259] Chr2:98396206 [GRCh38]
Chr2:99012669 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.746T>C (p.Phe249Ser) single nucleotide variant not provided [RCV002634384] Chr2:98395916 [GRCh38]
Chr2:99012379 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1496G>A (p.Arg499Gln) single nucleotide variant not provided [RCV003067347] Chr2:98396666 [GRCh38]
Chr2:99013129 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.242G>T (p.Arg81Leu) single nucleotide variant not provided [RCV002943431] Chr2:98380201 [GRCh38]
Chr2:98996664 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1112C>T (p.Pro371Leu) single nucleotide variant not provided [RCV002586556] Chr2:98396282 [GRCh38]
Chr2:99012745 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.449+19A>C single nucleotide variant not provided [RCV002635905] Chr2:98383460 [GRCh38]
Chr2:98999923 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.591C>T (p.Ser197=) single nucleotide variant not provided [RCV002585697] Chr2:98391888 [GRCh38]
Chr2:99008351 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1039C>T (p.Arg347Cys) single nucleotide variant not provided [RCV003072946] Chr2:98396209 [GRCh38]
Chr2:99012672 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1860C>T (p.Gly620=) single nucleotide variant not provided [RCV002586947] Chr2:98397030 [GRCh38]
Chr2:99013493 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1006G>T (p.Val336Phe) single nucleotide variant not provided [RCV002634385] Chr2:98396176 [GRCh38]
Chr2:99012639 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.314C>T (p.Ala105Val) single nucleotide variant not provided [RCV002589820] Chr2:98380273 [GRCh38]
Chr2:98996736 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.632A>T (p.Asp211Val) single nucleotide variant not provided [RCV002814792] Chr2:98391929 [GRCh38]
Chr2:99008392 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1414G>C (p.Val472Leu) single nucleotide variant not provided [RCV002609034] Chr2:98396584 [GRCh38]
Chr2:99013047 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1848G>A (p.Leu616=) single nucleotide variant not provided [RCV002586677] Chr2:98397018 [GRCh38]
Chr2:99013481 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.173C>T (p.Ala58Val) single nucleotide variant not provided [RCV003049990] Chr2:98377758 [GRCh38]
Chr2:98994221 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1653_1654delinsGC (p.Ser551_Ile552delinsArgLeu) indel Achromatopsia 2 [RCV003145055] Chr2:98396823..98396824 [GRCh38]
Chr2:99013286..99013287 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.181G>A (p.Gly61Arg) single nucleotide variant Achromatopsia 2 [RCV003145056]|Inborn genetic diseases [RCV004246122] Chr2:98377766 [GRCh38]
Chr2:98994229 [GRCh37]
Chr2:2q11.2		 likely benign|uncertain significance
NM_001298.3(CNGA3):c.1753A>C (p.Met585Leu) single nucleotide variant Inborn genetic diseases [RCV003181463] Chr2:98396923 [GRCh38]
Chr2:99013386 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1222G>A (p.Ala408Thr) single nucleotide variant Inborn genetic diseases [RCV003214370] Chr2:98396392 [GRCh38]
Chr2:99012855 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.910G>C (p.Gly304Arg) single nucleotide variant Cone-rod dystrophy [RCV003324690] Chr2:98396080 [GRCh38]
Chr2:99012543 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1073G>C (p.Trp358Ser) single nucleotide variant Cone-rod dystrophy [RCV003324688] Chr2:98396243 [GRCh38]
Chr2:99012706 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.332C>A (p.Ser111Tyr) single nucleotide variant Achromatopsia [RCV003324689] Chr2:98380291 [GRCh38]
Chr2:98996754 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1719C>G (p.Tyr573Ter) single nucleotide variant Achromatopsia [RCV003319143] Chr2:98396889 [GRCh38]
Chr2:99013352 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1106C>A (p.Thr369Asn) single nucleotide variant not provided [RCV003318895] Chr2:98396276 [GRCh38]
Chr2:99012739 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.215G>A (p.Arg72Lys) single nucleotide variant not provided [RCV003327041] Chr2:98377800 [GRCh38]
Chr2:98994263 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln) single nucleotide variant not provided [RCV003561311]|not specified [RCV003332063] Chr2:98396477 [GRCh38]
Chr2:99012940 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3 copy number gain not provided [RCV003484071] Chr2:96732520..99142320 [GRCh37]
Chr2:2q11.1-11.2		 uncertain significance
NM_001298.3(CNGA3):c.1561A>G (p.Ile521Val) single nucleotide variant not provided [RCV003569793] Chr2:98396731 [GRCh38]
Chr2:99013194 [GRCh37]
Chr2:2q11.2		 uncertain significance
GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3 copy number gain not provided [RCV003484069] Chr2:95773428..102550061 [GRCh37]
Chr2:2q11.1-11.2		 likely pathogenic
GRCh37/hg19 2q11.2(chr2:98165095-98974536)x3 copy number gain not provided [RCV003484072] Chr2:98165095..98974536 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.627G>A (p.Ser209=) single nucleotide variant not provided [RCV003429197] Chr2:98391924 [GRCh38]
Chr2:99008387 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1168_1169del (p.Leu390fs) deletion Achromatopsia 2 [RCV003389606] Chr2:98396337..98396338 [GRCh38]
Chr2:99012800..99012801 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.580G>T (p.Glu194Ter) single nucleotide variant Achromatopsia 2 [RCV003389607] Chr2:98391877 [GRCh38]
Chr2:99008340 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1451A>C (p.Gln484Pro) single nucleotide variant Achromatopsia 2 [RCV003389605]|not provided [RCV003669405] Chr2:98396621 [GRCh38]
Chr2:99013084 [GRCh37]
Chr2:2q11.2		 likely pathogenic|uncertain significance
NM_001298.3(CNGA3):c.396-4G>C single nucleotide variant not provided [RCV003546297] Chr2:98383384 [GRCh38]
Chr2:98999847 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.645C>G (p.Val215=) single nucleotide variant not provided [RCV003579465] Chr2:98391942 [GRCh38]
Chr2:99008405 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.450G>A (p.Glu150=) single nucleotide variant not provided [RCV003546299] Chr2:98389658 [GRCh38]
Chr2:99006121 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1929G>A (p.Arg643=) single nucleotide variant not provided [RCV003662382] Chr2:98397099 [GRCh38]
Chr2:99013562 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.101+14_101+23dup duplication not provided [RCV003689410] Chr2:98370089..98370090 [GRCh38]
Chr2:98986552..98986553 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1531AAG[1] (p.Lys512del) microsatellite not provided [RCV003572766] Chr2:98396701..98396703 [GRCh38]
Chr2:99013164..99013166 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1073G>A (p.Trp358Ter) single nucleotide variant not provided [RCV003574361] Chr2:98396243 [GRCh38]
Chr2:99012706 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.659T>C (p.Val220Ala) single nucleotide variant not provided [RCV003545135] Chr2:98391956 [GRCh38]
Chr2:99008419 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.2017G>A (p.Gly673Arg) single nucleotide variant not provided [RCV003548373] Chr2:98397187 [GRCh38]
Chr2:99013650 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.215+7G>C single nucleotide variant not provided [RCV003698346] Chr2:98377807 [GRCh38]
Chr2:98994270 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1071C>G (p.Tyr357Ter) single nucleotide variant not provided [RCV003667651] Chr2:98396241 [GRCh38]
Chr2:99012704 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.449+11A>T single nucleotide variant not provided [RCV003550703] Chr2:98383452 [GRCh38]
Chr2:98999915 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.719G>A (p.Trp240Ter) single nucleotide variant not provided [RCV003563257] Chr2:98395889 [GRCh38]
Chr2:99012352 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.483G>A (p.Val161=) single nucleotide variant not provided [RCV003677792] Chr2:98389691 [GRCh38]
Chr2:99006154 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1800G>A (p.Glu600=) single nucleotide variant not provided [RCV003708232] Chr2:98396970 [GRCh38]
Chr2:99013433 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.449+16C>G single nucleotide variant not provided [RCV003709840] Chr2:98383457 [GRCh38]
Chr2:98999920 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.2006T>C (p.Val669Ala) single nucleotide variant not provided [RCV003681520] Chr2:98397176 [GRCh38]
Chr2:99013639 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1405G>C (p.Ala469Pro) single nucleotide variant not provided [RCV003680644] Chr2:98396575 [GRCh38]
Chr2:99013038 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.405C>G (p.Pro135=) single nucleotide variant not provided [RCV003869131] Chr2:98383397 [GRCh38]
Chr2:98999860 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1989C>T (p.Ser663=) single nucleotide variant not provided [RCV003566803] Chr2:98397159 [GRCh38]
Chr2:99013622 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.109_125del (p.Ser37fs) deletion not provided [RCV003858879] Chr2:98377692..98377708 [GRCh38]
Chr2:98994155..98994171 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1296_1301del (p.Asp432_Leu433del) deletion not provided [RCV003683638] Chr2:98396463..98396468 [GRCh38]
Chr2:99012926..99012931 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.835C>T (p.Leu279=) single nucleotide variant not provided [RCV003568775] Chr2:98396005 [GRCh38]
Chr2:99012468 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.396-13T>C single nucleotide variant not provided [RCV003553153] Chr2:98383375 [GRCh38]
Chr2:98999838 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1080C>T (p.Thr360=) single nucleotide variant not provided [RCV003682512] Chr2:98396250 [GRCh38]
Chr2:99012713 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.471T>C (p.Asp157=) single nucleotide variant not provided [RCV003847607] Chr2:98389679 [GRCh38]
Chr2:99006142 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.396-11C>G single nucleotide variant not provided [RCV003554948] Chr2:98383377 [GRCh38]
Chr2:98999840 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.586C>T (p.Gln196Ter) single nucleotide variant not provided [RCV003554949] Chr2:98391883 [GRCh38]
Chr2:99008346 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.952G>A (p.Ala318Thr) single nucleotide variant not provided [RCV003554951] Chr2:98396122 [GRCh38]
Chr2:99012585 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1070A>G (p.Tyr357Cys) single nucleotide variant not provided [RCV003554952] Chr2:98396240 [GRCh38]
Chr2:99012703 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1640T>G (p.Phe547Cys) single nucleotide variant not provided [RCV003554954] Chr2:98396810 [GRCh38]
Chr2:99013273 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.487C>A (p.Pro163Thr) single nucleotide variant not provided [RCV003552108] Chr2:98389695 [GRCh38]
Chr2:99006158 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.448_449+2del deletion not provided [RCV003677880] Chr2:98383440..98383443 [GRCh38]
Chr2:98999903..98999906 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1147G>A (p.Val383Ile) single nucleotide variant Inborn genetic diseases [RCV004439831] Chr2:98396317 [GRCh38]
Chr2:99012780 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.211G>C (p.Ala71Pro) single nucleotide variant Inborn genetic diseases [RCV004439832] Chr2:98377796 [GRCh38]
Chr2:98994259 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.2076A>G (p.Lys692=) single nucleotide variant CNGA3-related disorder [RCV003977054] Chr2:98397246 [GRCh38]
Chr2:99013709 [GRCh37]
Chr2:2q11.2		 likely benign
NM_001298.3(CNGA3):c.1531A>C (p.Lys511Gln) single nucleotide variant Inborn genetic diseases [RCV004615380] Chr2:98396701 [GRCh38]
Chr2:99013164 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.397G>C (p.Ala133Pro) single nucleotide variant Inborn genetic diseases [RCV004615384] Chr2:98383389 [GRCh38]
Chr2:98999852 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.848G>T (p.Arg283Leu) single nucleotide variant Achromatopsia 2 [RCV004587978] Chr2:98396018 [GRCh38]
Chr2:99012481 [GRCh37]
Chr2:2q11.2		 likely pathogenic
NM_001298.3(CNGA3):c.1856C>G (p.Ala619Gly) single nucleotide variant Inborn genetic diseases [RCV004615381] Chr2:98397026 [GRCh38]
Chr2:99013489 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1231del (p.Ala411fs) deletion Achromatopsia 2 [RCV004666657] Chr2:98396399 [GRCh38]
Chr2:99012862 [GRCh37]
Chr2:2q11.2		 pathogenic
NM_001298.3(CNGA3):c.1629T>A (p.Asp543Glu) single nucleotide variant Inborn genetic diseases [RCV004615383] Chr2:98396799 [GRCh38]
Chr2:99013262 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1505T>A (p.Val502Glu) single nucleotide variant Inborn genetic diseases [RCV004615385] Chr2:98396675 [GRCh38]
Chr2:99013138 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1204A>C (p.Met402Leu) single nucleotide variant Inborn genetic diseases [RCV003359397] Chr2:98396374 [GRCh38]
Chr2:99012837 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_001298.3(CNGA3):c.1100G>T (p.Gly367Val) single nucleotide variant Achromatopsia 2 [RCV003333703] Chr2:98396270 [GRCh38]
Chr2:99012733 [GRCh37]
Chr2:2q11.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1772
Count of miRNA genes:762
Interacting mature miRNAs:858
Transcripts:ENST00000272602, ENST00000393503, ENST00000393504, ENST00000409937, ENST00000436404
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298432OSTEAR10_HOsteoarthritis QTL 10 (human)2.340.0001Joint/bone inflammationdistal interphalangeal joint osteoarthritis297592766106657498Human

Markers in Region
CNGA3_8266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37299,014,180 - 99,015,072UniSTSGRCh37
Build 36298,380,612 - 98,381,504RGDNCBI36
Celera293,217,900 - 93,218,792RGD
HuRef292,779,350 - 92,780,242UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF065314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ067459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ067460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ067461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ426863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ426864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR002103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ650082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000272602   ⟹   ENSP00000272602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl298,346,456 - 98,398,601 (+)Ensembl
Ensembl Acc Id: ENST00000393503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl298,379,901 - 98,389,772 (+)Ensembl
Ensembl Acc Id: ENST00000409937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl298,377,288 - 98,397,632 (+)Ensembl
Ensembl Acc Id: ENST00000436404   ⟹   ENSP00000410070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl298,346,188 - 98,397,344 (+)Ensembl
RefSeq Acc Id: NM_001079878   ⟹   NP_001073347
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,346,456 - 98,398,601 (+)NCBI
GRCh37298,962,618 - 99,015,064 (+)ENTREZGENE
Build 36298,329,050 - 98,381,496 (+)NCBI Archive
HuRef292,727,722 - 92,780,234 (+)ENTREZGENE
CHM1_1298,966,936 - 99,019,379 (+)NCBI
T2T-CHM13v2.0298,804,660 - 98,856,818 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001298   ⟹   NP_001289
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,346,456 - 98,398,601 (+)NCBI
GRCh37298,962,618 - 99,015,064 (+)ENTREZGENE
Build 36298,329,050 - 98,381,496 (+)NCBI Archive
HuRef292,727,722 - 92,780,234 (+)ENTREZGENE
CHM1_1298,966,936 - 99,019,379 (+)NCBI
T2T-CHM13v2.0298,804,660 - 98,856,818 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712243   ⟹   XP_006712306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,346,456 - 98,398,601 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011510554   ⟹   XP_011508856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,346,456 - 98,398,601 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443222   ⟹   XP_047299178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38298,346,456 - 98,398,601 (+)NCBI
RefSeq Acc Id: XM_054340428   ⟹   XP_054196403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0298,804,660 - 98,856,818 (+)NCBI
RefSeq Acc Id: XM_054340429   ⟹   XP_054196404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0298,804,385 - 98,856,818 (+)NCBI
RefSeq Acc Id: XM_054340430   ⟹   XP_054196405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0298,804,660 - 98,856,818 (+)NCBI