CNGB1 (cyclic nucleotide gated channel subunit beta 1) - Rat Genome Database

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Gene: CNGB1 (cyclic nucleotide gated channel subunit beta 1) Homo sapiens
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Symbol: CNGB1
Name: cyclic nucleotide gated channel subunit beta 1
RGD ID: 732601
HGNC Page HGNC:2151
Description: Enables cyclic nucleotide binding activity and intracellularly cyclic nucleotide-activated monoatomic cation channel activity. Involved in detection of light stimulus involved in visual perception; monoatomic cation transport; and retina homeostasis. Part of transmembrane transporter complex. Implicated in retinitis pigmentosa and retinitis pigmentosa 45.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CNCG2; CNCG3L; CNCG4; CNG channel beta-1; CNG-4; CNG4; CNGB1B; cyclic nucleotide gated channel (photoreceptor), cGMP gated 3 (gamma)-like; cyclic nucleotide gated channel beta 1; cyclic nucleotide-gated cation channel 4; cyclic nucleotide-gated cation channel beta-1; cyclic nucleotide-gated cation channel gamma; cyclic nucleotide-gated cation channel modulatory subunit; cyclic nucleotide-gated channel beta-1; GAR1; GARP; GARP2; glutamic acid-rich protein; glutamic-acid-rich protein; RCNC2; RCNCb; RCNCbeta; RP45
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
GRCh381657,882,340 - 57,971,128 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1657,882,340 - 57,971,128 (-)EnsemblGRCh38hg38GRCh38
GRCh371657,916,244 - 58,005,032 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361656,475,206 - 56,562,513 (-)NCBINCBI36Build 36hg18NCBI36
Build 341656,475,003 - 56,562,497NCBI
Celera1642,413,576 - 42,502,338 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1643,783,333 - 43,871,939 (-)NCBIHuRef
CHM1_11659,323,315 - 59,412,065 (-)NCBICHM1_1
T2T-CHM13v2.01663,677,581 - 63,766,382 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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
References

References - curated
# Reference Title Reference Citation
1. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Bareil C, etal., Hum Genet 2001 Apr;108(4):328-34.
2. Calcium signalling remodelling and disease. Berridge MJ Biochem Soc Trans. 2012 Apr;40(2):297-309. doi: 10.1042/BST20110766.
3. Genes and mutations causing retinitis pigmentosa. Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
4. Cyclic nucleotide-gated ion channels. Kaupp UB and Seifert R, Physiol Rev. 2002 Jul;82(3):769-824.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
Additional References at PubMed
PMID:1821816   PMID:7526403   PMID:7590744   PMID:7682292   PMID:8766832   PMID:8889548   PMID:9535905   PMID:10466724   PMID:11074001   PMID:11641407   PMID:12048242   PMID:12107411  
PMID:15557452   PMID:16159877   PMID:16169070   PMID:16382102   PMID:19299621   PMID:20126465   PMID:20201926   PMID:20301590   PMID:20591486   PMID:20801516   PMID:20890309   PMID:21123569  
PMID:21873635   PMID:23201897   PMID:24164424   PMID:26343373   PMID:26720471   PMID:26901671   PMID:29202463   PMID:29800053   PMID:29987050   PMID:30451805   PMID:32665550   PMID:33465333  
PMID:33847019   PMID:34209753   PMID:34699778   PMID:34971760   PMID:36560452   PMID:37056049  


Genomics

Comparative Map Data
CNGB1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381657,882,340 - 57,971,128 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1657,882,340 - 57,971,128 (-)EnsemblGRCh38hg38GRCh38
GRCh371657,916,244 - 58,005,032 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361656,475,206 - 56,562,513 (-)NCBINCBI36Build 36hg18NCBI36
Build 341656,475,003 - 56,562,497NCBI
Celera1642,413,576 - 42,502,338 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1643,783,333 - 43,871,939 (-)NCBIHuRef
CHM1_11659,323,315 - 59,412,065 (-)NCBICHM1_1
T2T-CHM13v2.01663,677,581 - 63,766,382 (-)NCBIT2T-CHM13v2.0
Cngb1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39895,965,671 - 96,033,213 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl895,965,673 - 96,033,213 (-)EnsemblGRCm39 Ensembl
GRCm38895,239,043 - 95,306,585 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl895,239,045 - 95,306,585 (-)EnsemblGRCm38mm10GRCm38
MGSCv37897,814,493 - 97,830,485 (-)NCBIGRCm37MGSCv37mm9NCBIm37
Celera899,610,443 - 99,627,497 (-)NCBICelera
Cytogenetic Map8C5NCBI
cM Map847.12NCBI
Cngb1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8199,732,646 - 9,798,864 (+)NCBIGRCr8
mRatBN7.2199,726,595 - 9,791,111 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl199,726,595 - 9,791,173 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx199,691,498 - 9,755,704 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01910,458,328 - 10,522,528 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0199,744,658 - 9,808,868 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01910,142,440 - 10,206,618 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1910,142,496 - 10,206,681 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01910,126,285 - 10,190,852 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41910,186,416 - 10,257,296 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11910,191,241 - 10,262,122NCBI
Celera199,619,420 - 9,683,573 (+)NCBICelera
Cytogenetic Map19p13NCBI
Cngb1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495543315,467,042 - 15,556,471 (-)NCBIChiLan1.0ChiLan1.0
CNGB1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21867,350,552 - 67,447,462 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11673,271,449 - 73,368,404 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01638,160,056 - 38,249,474 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11657,290,276 - 57,379,282 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1657,292,093 - 57,375,460 (-)Ensemblpanpan1.1panPan2
CNGB1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1258,574,552 - 58,641,631 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl258,574,552 - 58,640,812 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha255,204,187 - 55,268,847 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0259,113,127 - 59,180,268 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl259,113,127 - 59,180,264 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1255,944,477 - 56,009,276 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0256,951,994 - 57,016,919 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0257,845,272 - 57,909,956 (+)NCBIUU_Cfam_GSD_1.0
Cngb1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934949,681,069 - 49,746,175 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364759,844,438 - 9,908,009 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CNGB1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1619,752,734 - 19,865,830 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2617,783,799 - 17,840,139 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CNGB1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1543,814,500 - 43,903,323 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604732,300,772 - 32,364,172 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cngb1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474628,198,324 - 28,268,280 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CNGB1
1117 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001297.5(CNGB1):c.2978G>T (p.Gly993Val) single nucleotide variant Retinitis pigmentosa 45 [RCV000009448] Chr16:57897913 [GRCh38]
Chr16:57931817 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.3462+1G>A single nucleotide variant Retinitis pigmentosa 45 [RCV000009449] Chr16:57887854 [GRCh38]
Chr16:57921758 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1820C>T (p.Pro607Leu) single nucleotide variant not provided [RCV001367651] Chr16:57919236 [GRCh38]
Chr16:57953140 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2128C>T (p.Gln710Ter) single nucleotide variant not provided [RCV000305240] Chr16:57917306 [GRCh38]
Chr16:57951210 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.3003C>T (p.Ile1001=) single nucleotide variant not provided [RCV001495028] Chr16:57897888 [GRCh38]
Chr16:57931792 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.752A>T (p.Asp251Val) single nucleotide variant Inborn genetic diseases [RCV003382509]|not provided [RCV001302536] Chr16:57959897 [GRCh38]
Chr16:57993801 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2524dup (p.Thr842fs) duplication Retinitis pigmentosa [RCV000132647] Chr16:57904843..57904844 [GRCh38]
Chr16:57938747..57938748 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.4(CNGB1):c.1536-693T>A single nucleotide variant Lung cancer [RCV000100016] Chr16:57924073 [GRCh38]
Chr16:57957977 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
NM_001297.5(CNGB1):c.1479G>A (p.Pro493=) single nucleotide variant Retinitis pigmentosa 45 [RCV001000458]|Retinitis pigmentosa [RCV001121843]|not provided [RCV001512152]|not specified [RCV000079628] Chr16:57931772 [GRCh38]
Chr16:57965676 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.2218-12C>T single nucleotide variant Retinitis pigmentosa 45 [RCV001588904]|Retinitis pigmentosa [RCV000408294]|not provided [RCV001511755]|not specified [RCV000079629] Chr16:57915347 [GRCh38]
Chr16:57949251 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile) single nucleotide variant Retinal dystrophy [RCV003888433]|Retinitis pigmentosa 45 [RCV000999791]|Retinitis pigmentosa [RCV000345480]|not provided [RCV000086948]|not specified [RCV000079630] Chr16:57915320 [GRCh38]
Chr16:57949224 [GRCh37]
Chr16:16q21		 benign|likely benign|not provided
NM_001297.5(CNGB1):c.2266G>A (p.Gly756Ser) single nucleotide variant not provided [RCV000079631] Chr16:57915287 [GRCh38]
Chr16:57949191 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2664C>A (p.Ala888=) single nucleotide variant Retinitis pigmentosa [RCV000262366]|not provided [RCV001512565]|not specified [RCV000079632] Chr16:57903952 [GRCh38]
Chr16:57937856 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.285G>T (p.Met95Ile) single nucleotide variant not provided [RCV000079633] Chr16:57964135 [GRCh38]
Chr16:57998039 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2978G>A (p.Gly993Glu) single nucleotide variant Retinitis pigmentosa [RCV001121637]|not provided [RCV000079634] Chr16:57897913 [GRCh38]
Chr16:57931817 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.606A>G (p.Glu202=) single nucleotide variant Retinal dystrophy [RCV003888434]|Retinitis pigmentosa [RCV000279627]|not provided [RCV001516233]|not specified [RCV000079635] Chr16:57960043 [GRCh38]
Chr16:57993947 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.712G>A (p.Gly238Ser) single nucleotide variant Retinal dystrophy [RCV003888435]|Retinitis pigmentosa [RCV000324139]|not provided [RCV001516232]|not specified [RCV000079636] Chr16:57959937 [GRCh38]
Chr16:57959937..57959938 [GRCh38]
Chr16:57993841 [GRCh37]
Chr16:57993841..57993842 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter) single nucleotide variant Retinal dystrophy [RCV001075139]|Retinitis pigmentosa 45 [RCV002498400]|Retinitis pigmentosa [RCV000505022]|not provided [RCV000174506] Chr16:57950463 [GRCh38]
Chr16:57984367 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.1473G>A (p.Pro491=) single nucleotide variant Retinal dystrophy [RCV003888498]|Retinitis pigmentosa [RCV000392571]|not provided [RCV000086946] Chr16:57931778 [GRCh38]
Chr16:57965682 [GRCh37]
Chr16:16q21		 benign|likely benign|not provided
NM_001297.5(CNGB1):c.1604T>C (p.Val535Ala) single nucleotide variant Retinitis pigmentosa [RCV000283537]|not provided [RCV000086947] Chr16:57923312 [GRCh38]
Chr16:57957216 [GRCh37]
Chr16:16q21		 benign|likely benign|not provided
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) single nucleotide variant Retinitis pigmentosa [RCV000787821]|not provided [RCV000086949]|not specified [RCV003488385] Chr16:57903869 [GRCh38]
Chr16:57937773 [GRCh37]
Chr16:16q21		 likely pathogenic|uncertain significance|not provided
NM_001297.5(CNGB1):c.2882C>T (p.Ala961Val) single nucleotide variant Retinal dystrophy [RCV003888499]|Retinitis pigmentosa [RCV000403796]|not provided [RCV000086950] Chr16:57901538 [GRCh38]
Chr16:57935442 [GRCh37]
Chr16:16q21		 benign|likely benign|not provided
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) single nucleotide variant Retinitis pigmentosa [RCV000371837]|not provided [RCV000755238]|not specified [RCV000173736] Chr16:57960015 [GRCh38]
Chr16:57993919 [GRCh37]
Chr16:16q21		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) single nucleotide variant Retinitis pigmentosa 45 [RCV003103741]|Retinitis pigmentosa [RCV000384870]|not provided [RCV000755932]|not specified [RCV000175289] Chr16:57923290 [GRCh38]
Chr16:57957194 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.1122-15C>T single nucleotide variant Retinitis pigmentosa 45 [RCV000614201]|Retinitis pigmentosa [RCV000269139]|not provided [RCV001518132]|not specified [RCV000174871] Chr16:57940336 [GRCh38]
Chr16:57974240 [GRCh37]
Chr16:16q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001297.5(CNGB1):c.2556dup (p.Lys853fs) duplication not provided [RCV000176637] Chr16:57904811..57904812 [GRCh38]
Chr16:57938715..57938716 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.299G>T (p.Arg100Leu) single nucleotide variant not provided [RCV001303354] Chr16:57963056 [GRCh38]
Chr16:57996960 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.3683G>T (p.Ser1228Ile) single nucleotide variant not provided [RCV001889209] Chr16:57884237 [GRCh38]
Chr16:57918141 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3664T>A (p.Ser1222Thr) single nucleotide variant not provided [RCV002001812] Chr16:57884256 [GRCh38]
Chr16:57918160 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3135C>T (p.Asn1045=) single nucleotide variant Retinitis pigmentosa [RCV000281889]|not provided [RCV002054094]|not specified [RCV000177528] Chr16:57897504 [GRCh38]
Chr16:57931408 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) single nucleotide variant CNGB1-related disorder [RCV003937605]|Inborn genetic diseases [RCV002517713]|Retinitis pigmentosa [RCV000989610]|not provided [RCV000761936]|not specified [RCV000177529] Chr16:57897524 [GRCh38]
Chr16:57931428 [GRCh37]
Chr16:16q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.217+5G>C single nucleotide variant Retinitis pigmentosa 45 [RCV002250572]|Retinitis pigmentosa [RCV000132646]|not provided [RCV001207756] Chr16:57964482 [GRCh38]
Chr16:57998386 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.3533A>T (p.Glu1178Val) single nucleotide variant not provided [RCV001303367] Chr16:57884387 [GRCh38]
Chr16:57918291 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) single nucleotide variant Retinitis pigmentosa [RCV000320799]|not provided [RCV000723993] Chr16:57950537 [GRCh38]
Chr16:57984441 [GRCh37]
Chr16:16q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn) single nucleotide variant Retinal dystrophy [RCV003888621]|Retinitis pigmentosa 45 [RCV002492740]|Retinitis pigmentosa [RCV001115273]|not provided [RCV001517792]|not specified [RCV000174870] Chr16:57940239 [GRCh38]
Chr16:57974143 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.4(CNGB1):c.1103_1104insGGA (p.Glu371_Val372insGlu) insertion not specified [RCV000174717] Chr16:57949370..57949371 [GRCh38]
Chr16:57983274..57983275 [GRCh37]
Chr16:16q21		 benign
GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1 copy number loss See cases [RCV000133738] Chr16:55457477..63841622 [GRCh38]
Chr16:55491389..63875526 [GRCh37]
Chr16:54048890..62433027 [NCBI36]
Chr16:16q12.2-21		 pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
NM_001297.5(CNGB1):c.3556C>T (p.Pro1186Ser) single nucleotide variant Retinitis pigmentosa [RCV000271761]|not provided [RCV001517404]|not specified [RCV000153038] Chr16:57884364 [GRCh38]
Chr16:57918268 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.2732A>G (p.Lys911Arg) single nucleotide variant Retinal dystrophy [RCV003888585]|Retinitis pigmentosa [RCV000266725]|not provided [RCV001521866]|not specified [RCV000153041] Chr16:57903884 [GRCh38]
Chr16:57937788 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.2664C>G (p.Ala888=) single nucleotide variant Retinitis pigmentosa 45 [RCV000755492]|Retinitis pigmentosa [RCV000371770]|not provided [RCV001510081]|not specified [RCV000153043] Chr16:57903952 [GRCh38]
Chr16:57937856 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.2635-10C>T single nucleotide variant Retinitis pigmentosa 45 [RCV001589009]|Retinitis pigmentosa [RCV000319806]|not provided [RCV001516426]|not specified [RCV000153044] Chr16:57903991 [GRCh38]
Chr16:57937895 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257781]|CNGB1-related disorder [RCV003907442]|Retinal dystrophy [RCV001073599]|Retinitis pigmentosa 45 [RCV001331891]|Retinitis pigmentosa [RCV000504912]|not provided [RCV000153040] Chr16:57901371 [GRCh38]
Chr16:57935275 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp) single nucleotide variant not provided [RCV000175694] Chr16:57967238 [GRCh38]
Chr16:58001142 [GRCh37]
Chr16:16q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) single nucleotide variant Retinal dystrophy [RCV001074215]|Retinitis pigmentosa [RCV000291964]|not provided [RCV000724483] Chr16:57916137 [GRCh38]
Chr16:57950041 [GRCh37]
Chr16:16q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.2656G>A (p.Ala886Thr) single nucleotide variant Retinal dystrophy [RCV003888629]|not provided [RCV000176726] Chr16:57903960 [GRCh38]
Chr16:57937864 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2370-9C>T single nucleotide variant CNGB1-related disorder [RCV003927631]|Retinitis pigmentosa 45 [RCV000625378]|Retinitis pigmentosa [RCV001121741]|not provided [RCV000176539]|not specified [RCV001699221] Chr16:57911884 [GRCh38]
Chr16:57945788 [GRCh37]
Chr16:16q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.3339C>T (p.Leu1113=) single nucleotide variant not provided [RCV000177637] Chr16:57887978 [GRCh38]
Chr16:57921882 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3305G>A (p.Arg1102Gln) single nucleotide variant not provided [RCV000177638] Chr16:57888012 [GRCh38]
Chr16:57921916 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2990G>A (p.Arg997His) single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000407515]|not provided [RCV000373647] Chr16:57897901 [GRCh38]
Chr16:57931805 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg) single nucleotide variant Retinitis pigmentosa 45 [RCV000191921]|Retinitis pigmentosa 49 [RCV000490531]|Retinitis pigmentosa [RCV001119868]|not provided [RCV001489289] Chr16:57923327 [GRCh38]
Chr16:57957231 [GRCh37]
Chr16:16q21		 pathogenic|likely benign|uncertain significance
NM_001297.5(CNGB1):c.837+6T>C single nucleotide variant not provided [RCV001229159] Chr16:57958404 [GRCh38]
Chr16:57992308 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1644T>C (p.Asp548=) single nucleotide variant Retinal dystrophy [RCV003888686]|Retinitis pigmentosa [RCV000381565]|not provided [RCV001516427]|not specified [RCV000271730] Chr16:57920544 [GRCh38]
Chr16:57954448 [GRCh37]
Chr16:16q21		 benign|likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) single nucleotide variant Retinitis pigmentosa 45 [RCV001001719]|not provided [RCV000224746] Chr16:57901566 [GRCh38]
Chr16:57935470 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.2096A>G (p.Asp699Gly) single nucleotide variant Retinal dystrophy [RCV000225406] Chr16:57917338 [GRCh38]
Chr16:57951242 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) duplication Retinal dystrophy [RCV000225473]|Retinitis pigmentosa 45 [RCV001376356]|Retinitis pigmentosa [RCV001723813]|not provided [RCV001064707] Chr16:57904823..57904824 [GRCh38]
Chr16:57938727..57938728 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) single nucleotide variant Retinal dystrophy [RCV000225584]|Retinitis pigmentosa [RCV000505159] Chr16:57964158 [GRCh38]
Chr16:57998062 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2681G>A (p.Arg894His) single nucleotide variant Retinal dystrophy [RCV000225653]|not provided [RCV001454277] Chr16:57903935 [GRCh38]
Chr16:57937839 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) single nucleotide variant Retinal dystrophy [RCV000225688]|Retinitis pigmentosa [RCV000367163]|not provided [RCV001510510]|not specified [RCV001729470] Chr16:57931869 [GRCh38]
Chr16:57965773 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.2893G>A (p.Gly965Ser) single nucleotide variant Retinal dystrophy [RCV000225557] Chr16:57901435 [GRCh38]
Chr16:57935339 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs) deletion Retinal dystrophy [RCV001074987]|Retinitis pigmentosa 45 [RCV001376210]|not provided [RCV000360125] Chr16:57897489 [GRCh38]
Chr16:57931393 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1089GGA[4] (p.Glu371del) microsatellite not provided [RCV001860327]|not specified [RCV000603552] Chr16:57949371..57949373 [GRCh38]
Chr16:57983275..57983277 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1580C>T (p.Ala527Val) single nucleotide variant Retinitis pigmentosa [RCV000340906]|not provided [RCV001521801]|not specified [RCV000285588] Chr16:57923336 [GRCh38]
Chr16:57957240 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.159+14C>T single nucleotide variant Retinitis pigmentosa 45 [RCV001001916]|Retinitis pigmentosa [RCV000366543]|not provided [RCV001518765]|not specified [RCV000243766] Chr16:57967114 [GRCh38]
Chr16:58001018 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.1958-14A>C single nucleotide variant Retinitis pigmentosa [RCV000299170]|not provided [RCV001522300]|not specified [RCV000248288] Chr16:57917490 [GRCh38]
Chr16:57951394 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.*116G>A single nucleotide variant Retinitis pigmentosa [RCV000300410] Chr16:57884048 [GRCh38]
Chr16:57917952 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1435C>A (p.Leu479Ile) single nucleotide variant CNGB1-related disorder [RCV003969905]|Retinal dystrophy [RCV003888757]|Retinitis pigmentosa [RCV000300738]|not provided [RCV001522874] Chr16:57931816 [GRCh38]
Chr16:57965720 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.3378C>T (p.Gly1126=) single nucleotide variant Retinal dystrophy [RCV003888752]|Retinitis pigmentosa [RCV000265729]|not provided [RCV001512902] Chr16:57887939 [GRCh38]
Chr16:57921843 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.*1018A>C single nucleotide variant Retinitis pigmentosa [RCV000301907] Chr16:57883146 [GRCh38]
Chr16:57917050 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2850C>T (p.Ile950=) single nucleotide variant Retinitis pigmentosa [RCV000301994]|not provided [RCV001511923] Chr16:57901570 [GRCh38]
Chr16:57935474 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.761+15A>G single nucleotide variant Retinitis pigmentosa [RCV000266798]|not provided [RCV001523531] Chr16:57959873 [GRCh38]
Chr16:57993777 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.105G>A (p.Ala35=) single nucleotide variant Retinal dystrophy [RCV003888761]|Retinitis pigmentosa [RCV000303695]|not provided [RCV001519930] Chr16:57967182 [GRCh38]
Chr16:58001086 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.-47A>G single nucleotide variant Retinitis pigmentosa [RCV000268503]|not provided [RCV000755935] Chr16:57971098 [GRCh38]
Chr16:58005002 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1500C>G (p.Thr500=) single nucleotide variant Retinitis pigmentosa [RCV000287088]|not provided [RCV001403518] Chr16:57931751 [GRCh38]
Chr16:57965655 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2091A>G (p.Leu697=) single nucleotide variant Retinitis pigmentosa [RCV000304973]|not provided [RCV002521059] Chr16:57917343 [GRCh38]
Chr16:57951247 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*244A>G single nucleotide variant Retinitis pigmentosa [RCV000287412] Chr16:57883920 [GRCh38]
Chr16:57917824 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2452C>A (p.Leu818Ile) single nucleotide variant Retinitis pigmentosa [RCV000288196]|not provided [RCV001458432] Chr16:57911793 [GRCh38]
Chr16:57945697 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.898G>A (p.Val300Met) single nucleotide variant Retinitis pigmentosa [RCV000272740] Chr16:57950517 [GRCh38]
Chr16:57984421 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1643+13del deletion Retinitis Pigmentosa, Recessive [RCV000289559]|not provided [RCV001512247] Chr16:57923260 [GRCh38]
Chr16:57957164 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.*720A>G single nucleotide variant Retinitis pigmentosa [RCV000289597] Chr16:57883444 [GRCh38]
Chr16:57917348 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) single nucleotide variant Retinitis pigmentosa [RCV000272670]|not provided [RCV000755934] Chr16:57901567 [GRCh38]
Chr16:57935471 [GRCh37]
Chr16:16q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.*493C>T single nucleotide variant Retinitis pigmentosa [RCV000290728] Chr16:57883671 [GRCh38]
Chr16:57917575 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*1233T>C single nucleotide variant Retinitis pigmentosa [RCV000291024] Chr16:57882931 [GRCh38]
Chr16:57916835 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.*820G>A single nucleotide variant Retinitis pigmentosa [RCV000273986] Chr16:57883344 [GRCh38]
Chr16:57917248 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.453C>T (p.Asp151=) single nucleotide variant Retinitis pigmentosa [RCV000292915]|not provided [RCV000957440] Chr16:57962570 [GRCh38]
Chr16:57996474 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.1802-14A>G single nucleotide variant Retinitis pigmentosa [RCV000276667]|not provided [RCV002061205] Chr16:57919268 [GRCh38]
Chr16:57953172 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*1462A>G single nucleotide variant Retinitis pigmentosa [RCV000293845] Chr16:57882702 [GRCh38]
Chr16:57916606 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2517T>C (p.Ala839=) single nucleotide variant Retinitis pigmentosa [RCV000294159]|not provided [RCV001522415] Chr16:57904851 [GRCh38]
Chr16:57938755 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.*1364del deletion Retinitis Pigmentosa, Recessive [RCV000295003] Chr16:57882800 [GRCh38]
Chr16:57916704 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3590C>A (p.Pro1197Gln) single nucleotide variant Retinitis pigmentosa [RCV000277783]|not provided [RCV002522879] Chr16:57884330 [GRCh38]
Chr16:57918234 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3309G>A (p.Ala1103=) single nucleotide variant CNGB1-related disorder [RCV003920354]|Retinitis pigmentosa [RCV000278783]|not provided [RCV002056503] Chr16:57888008 [GRCh38]
Chr16:57921912 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.*887CAAA[1] microsatellite Retinitis Pigmentosa, Recessive [RCV000263579] Chr16:57883270..57883273 [GRCh38]
Chr16:57917174..57917177 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.*918C>A single nucleotide variant Retinitis pigmentosa [RCV000298824] Chr16:57883246 [GRCh38]
Chr16:57917150 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1870G>C (p.Glu624Gln) single nucleotide variant Retinitis pigmentosa [RCV000263840]|not provided [RCV002056505] Chr16:57919186 [GRCh38]
Chr16:57953090 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.139G>A (p.Glu47Lys) single nucleotide variant CNGB1-related disorder [RCV003969906]|Retinal dystrophy [RCV003888760]|Retinitis pigmentosa [RCV000264840]|not provided [RCV001518526] Chr16:57967148 [GRCh38]
Chr16:58001052 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.*1606G>A single nucleotide variant Retinitis pigmentosa [RCV000319430] Chr16:57882558 [GRCh38]
Chr16:57916462 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2862C>T (p.Tyr954=) single nucleotide variant Retinitis pigmentosa [RCV000364464]|not provided [RCV001499720] Chr16:57901558 [GRCh38]
Chr16:57935462 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1056G>A (p.Glu352=) single nucleotide variant Retinitis pigmentosa [RCV000364981] Chr16:57949418 [GRCh38]
Chr16:57983322 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*1292A>C single nucleotide variant Retinitis pigmentosa [RCV000391029] Chr16:57882872 [GRCh38]
Chr16:57916776 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.299G>A (p.Arg100His) single nucleotide variant Retinal dystrophy [RCV003888759]|Retinitis pigmentosa 45 [RCV000506638]|Retinitis pigmentosa [RCV000344386]|not provided [RCV001516428]|not specified [RCV001529133] Chr16:57963056 [GRCh38]
Chr16:57996960 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.1500C>T (p.Thr500=) single nucleotide variant Retinitis pigmentosa [RCV000393811]|not provided [RCV001519638] Chr16:57931751 [GRCh38]
Chr16:57965655 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.3366G>A (p.Lys1122=) single nucleotide variant Retinitis pigmentosa [RCV000323178]|not provided [RCV001511237] Chr16:57887951 [GRCh38]
Chr16:57921855 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.*836C>T single nucleotide variant Retinitis pigmentosa [RCV000368564] Chr16:57883328 [GRCh38]
Chr16:57917232 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.1803C>A (p.Ser601=) single nucleotide variant Retinitis pigmentosa [RCV000368970]|not provided [RCV001478643] Chr16:57919253 [GRCh38]
Chr16:57953157 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*228T>G single nucleotide variant Retinitis pigmentosa [RCV000393737] Chr16:57883936 [GRCh38]
Chr16:57917840 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2700G>A (p.Thr900=) single nucleotide variant Retinitis pigmentosa 45 [RCV001001677]|Retinitis pigmentosa [RCV000324085]|not provided [RCV000955137] Chr16:57903916 [GRCh38]
Chr16:57937820 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.*1228C>G single nucleotide variant Retinitis pigmentosa [RCV000346029] Chr16:57882936 [GRCh38]
Chr16:57916840 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1149G>T (p.Ser383=) single nucleotide variant Retinitis pigmentosa [RCV000370707] Chr16:57940294 [GRCh38]
Chr16:57974198 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.440T>G (p.Leu147Arg) single nucleotide variant Retinitis pigmentosa [RCV000350230]|not provided [RCV001517869] Chr16:57962583 [GRCh38]
Chr16:57996487 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.*1544T>C single nucleotide variant Retinitis pigmentosa [RCV000374044] Chr16:57882620 [GRCh38]
Chr16:57916524 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3147C>T (p.His1049=) single nucleotide variant CNGB1-related disorder [RCV003920355]|Retinitis pigmentosa [RCV000374100]|not provided [RCV000960074] Chr16:57897492 [GRCh38]
Chr16:57931396 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys) single nucleotide variant Retinitis pigmentosa 45 [RCV001000412]|Retinitis pigmentosa [RCV000307175]|not provided [RCV001519711]|not specified [RCV001699364] Chr16:57884336 [GRCh38]
Chr16:57918240 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.2881G>T (p.Ala961Ser) single nucleotide variant Retinitis pigmentosa [RCV000307411]|not provided [RCV000947708] Chr16:57901539 [GRCh38]
Chr16:57935443 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) single nucleotide variant Retinal dystrophy [RCV001075314]|Retinitis pigmentosa [RCV000328036]|not provided [RCV000597493] Chr16:57923285 [GRCh38]
Chr16:57957189 [GRCh37]
Chr16:16q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.534+7C>G single nucleotide variant Retinitis pigmentosa [RCV000375632]|not provided [RCV000957439] Chr16:57960833 [GRCh38]
Chr16:57994737 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr) single nucleotide variant CNGB1-related disorder [RCV003910216]|Inborn genetic diseases [RCV002522881]|Retinitis pigmentosa 45 [RCV001000923]|Retinitis pigmentosa [RCV000309330]|not provided [RCV001430950] Chr16:57964188 [GRCh38]
Chr16:57998092 [GRCh37]
Chr16:16q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.3462+7T>C single nucleotide variant Retinitis pigmentosa 45 [RCV001000301]|Retinitis pigmentosa [RCV000329278]|not provided [RCV001512564]|not specified [RCV001529049] Chr16:57887848 [GRCh38]
Chr16:57921752 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.*1429T>C single nucleotide variant Retinitis pigmentosa [RCV000330164] Chr16:57882735 [GRCh38]
Chr16:57916639 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2892+6C>T single nucleotide variant Retinitis pigmentosa [RCV000352268]|not provided [RCV000947707] Chr16:57901522 [GRCh38]
Chr16:57935426 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr) single nucleotide variant Retinal dystrophy [RCV003888751]|Retinitis pigmentosa [RCV000376862]|not provided [RCV001092933] Chr16:57887896 [GRCh38]
Chr16:57921800 [GRCh37]
Chr16:16q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.*281T>C single nucleotide variant Retinitis pigmentosa [RCV000377160]|not provided [RCV004694283] Chr16:57883883 [GRCh38]
Chr16:57917787 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1854C>T (p.Ala618=) single nucleotide variant Retinitis pigmentosa [RCV000330684]|not provided [RCV001427439] Chr16:57919202 [GRCh38]
Chr16:57953106 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*900AAAG[1] microsatellite Retinitis Pigmentosa, Recessive [RCV000353741] Chr16:57883257..57883260 [GRCh38]
Chr16:57917161..57917164 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1373-11C>A single nucleotide variant Retinitis pigmentosa [RCV000402999]|not provided [RCV001522953] Chr16:57931889 [GRCh38]
Chr16:57965793 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu) single nucleotide variant Retinitis pigmentosa 45 [RCV002487416]|Retinitis pigmentosa [RCV000332554]|not provided [RCV001850701] Chr16:57904867 [GRCh38]
Chr16:57938771 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1950G>C (p.Pro650=) single nucleotide variant Retinal dystrophy [RCV003888756]|Retinitis pigmentosa [RCV000355219]|not provided [RCV001511300] Chr16:57919106 [GRCh38]
Chr16:57953010 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr) single nucleotide variant Retinal dystrophy [RCV003888753]|Retinitis pigmentosa [RCV000380180]|not provided [RCV001519492] Chr16:57887977 [GRCh38]
Chr16:57921881 [GRCh37]
Chr16:16q21		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.*919G>A single nucleotide variant Retinitis pigmentosa [RCV000404624] Chr16:57883245 [GRCh38]
Chr16:57917149 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.257G>A (p.Arg86Gln) single nucleotide variant Retinitis pigmentosa [RCV000405066]|not provided [RCV000959763] Chr16:57964163 [GRCh38]
Chr16:57998067 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.*738_*747del deletion Retinitis Pigmentosa, Recessive [RCV000333808] Chr16:57883417..57883426 [GRCh38]
Chr16:57917321..57917330 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1770C>G (p.Asp590Glu) single nucleotide variant Retinitis pigmentosa [RCV000334121]|not provided [RCV002061206] Chr16:57920418 [GRCh38]
Chr16:57954322 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe) single nucleotide variant Retinitis pigmentosa 45 [RCV001000732]|Retinitis pigmentosa [RCV000405494]|not provided [RCV001451609] Chr16:57917336 [GRCh38]
Chr16:57951240 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*33A>G single nucleotide variant Retinitis pigmentosa [RCV000405938]|not provided [RCV004715103] Chr16:57884131 [GRCh38]
Chr16:57918035 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.3717G>T (p.Ser1239=) single nucleotide variant Retinitis pigmentosa [RCV000313088]|not provided [RCV001520986] Chr16:57884203 [GRCh38]
Chr16:57918107 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.1275C>G (p.Ala425=) single nucleotide variant Retinitis pigmentosa [RCV000313594]|not provided [RCV001517349]|not specified [RCV001700058] Chr16:57939527 [GRCh38]
Chr16:57973431 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.1482T>C (p.Ser494=) single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000335048]|not provided [RCV001464675] Chr16:57931769 [GRCh38]
Chr16:57965673 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.3244C>T (p.Arg1082Cys) single nucleotide variant Retinitis pigmentosa [RCV000335843]|not provided [RCV001092934] Chr16:57888073 [GRCh38]
Chr16:57921977 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.412+8C>A single nucleotide variant Retinitis pigmentosa 45 [RCV000625380]|Retinitis pigmentosa [RCV000407586]|not provided [RCV001512416]|not specified [RCV000591254] Chr16:57962834 [GRCh38]
Chr16:57996738 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.*111T>C single nucleotide variant Retinitis pigmentosa [RCV000336671] Chr16:57884053 [GRCh38]
Chr16:57917957 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.545A>T (p.Asp182Val) single nucleotide variant Retinitis pigmentosa [RCV000336980] Chr16:57960520 [GRCh38]
Chr16:57994424 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2844C>T (p.Leu948=) single nucleotide variant CNGB1-related disorder [RCV003972366]|Retinitis pigmentosa [RCV000359095]|not provided [RCV002056504] Chr16:57901576 [GRCh38]
Chr16:57935480 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*601G>A single nucleotide variant Retinitis pigmentosa [RCV000385047] Chr16:57883563 [GRCh38]
Chr16:57917467 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.327C>T (p.Gly109=) single nucleotide variant Retinal dystrophy [RCV003888758]|Retinitis pigmentosa 45 [RCV000507890]|Retinitis pigmentosa [RCV000315263]|not provided [RCV001514018]|not specified [RCV001528759] Chr16:57963028 [GRCh38]
Chr16:57996932 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.-25G>A single nucleotide variant Retinitis pigmentosa [RCV000360773] Chr16:57971076 [GRCh38]
Chr16:58004980 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*967C>T single nucleotide variant Retinitis pigmentosa [RCV000361276] Chr16:57883197 [GRCh38]
Chr16:57917101 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2030G>T (p.Arg677Leu) single nucleotide variant Retinitis pigmentosa [RCV000361940]|not provided [RCV001066124] Chr16:57917404 [GRCh38]
Chr16:57951308 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2634+4T>C single nucleotide variant Retinitis pigmentosa [RCV000386126]|not provided [RCV001363551] Chr16:57904730 [GRCh38]
Chr16:57938634 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2193C>T (p.Asn731=) single nucleotide variant Retinal dystrophy [RCV003888755]|Retinitis pigmentosa 45 [RCV001590951]|Retinitis pigmentosa [RCV000339801]|not provided [RCV001510082] Chr16:57916153 [GRCh38]
Chr16:57950057 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.*730C>A single nucleotide variant Retinitis pigmentosa [RCV000388312] Chr16:57883434 [GRCh38]
Chr16:57917338 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*310T>C single nucleotide variant Retinitis pigmentosa [RCV000341181]|not provided [RCV004715102] Chr16:57883854 [GRCh38]
Chr16:57917758 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.3560G>A (p.Arg1187Gln) single nucleotide variant CNGB1-related disorder [RCV003922352]|Inborn genetic diseases [RCV002522880]|Retinitis pigmentosa [RCV000364070]|not provided [RCV001358311] Chr16:57884360 [GRCh38]
Chr16:57918264 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.2481C>T (p.Gly827=) single nucleotide variant Retinal dystrophy [RCV003888754]|Retinitis pigmentosa [RCV000389413]|not provided [RCV001521322] Chr16:57911764 [GRCh38]
Chr16:57945668 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.2893-7G>A single nucleotide variant Retinitis pigmentosa 45 [RCV000408898]|Retinitis pigmentosa [RCV001199469]|not provided [RCV000513315] Chr16:57901442 [GRCh38]
Chr16:57935346 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.1828G>A (p.Ala610Thr) single nucleotide variant not provided [RCV000725942] Chr16:57919228 [GRCh38]
Chr16:57953132 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1955C>G (p.Thr652Ser) single nucleotide variant not provided [RCV000489432] Chr16:57919101 [GRCh38]
Chr16:57953005 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3337C>A (p.Leu1113Ile) single nucleotide variant not provided [RCV001367870] Chr16:57887980 [GRCh38]
Chr16:57921884 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1710G>T (p.Glu570Asp) single nucleotide variant not provided [RCV000489601] Chr16:57920478 [GRCh38]
Chr16:57954382 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2501G>A (p.Arg834His) single nucleotide variant not provided [RCV000585505] Chr16:57904867 [GRCh38]
Chr16:57938771 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2977-2del deletion Retinitis pigmentosa 45 [RCV001269024] Chr16:57897916 [GRCh38]
Chr16:57931820 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2794+1G>A single nucleotide variant Retinal dystrophy [RCV001074635]|Retinitis pigmentosa 45 [RCV001725185]|Retinitis pigmentosa [RCV001199466]|not provided [RCV000487966] Chr16:57903821 [GRCh38]
Chr16:57937725 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.2438C>T (p.Ser813Leu) single nucleotide variant not provided [RCV000490023] Chr16:57911807 [GRCh38]
Chr16:57945711 [GRCh37]
Chr16:16q21		 likely pathogenic|conflicting interpretations of pathogenicity
NM_001297.5(CNGB1):c.1080AGAGGA[1] (p.Glu370_Glu371del) microsatellite not provided [RCV001982633] Chr16:57949383..57949388 [GRCh38]
Chr16:57983287..57983292 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3019G>C (p.Val1007Leu) single nucleotide variant not provided [RCV000597005] Chr16:57897872 [GRCh38]
Chr16:57931776 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*1351del deletion Retinitis Pigmentosa, Recessive [RCV000344793] Chr16:57882813 [GRCh38]
Chr16:57916717 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.4(CNGB1):c.*1837delA deletion Retinitis Pigmentosa, Recessive [RCV000339002] Chr16:57882327 [GRCh38]
Chr16:57916231 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.*882G>A single nucleotide variant Retinitis pigmentosa [RCV000318752] Chr16:57883282 [GRCh38]
Chr16:57917186 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1958-8C>T single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000404733] Chr16:57917484 [GRCh38]
Chr16:57951388 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.4(CNGB1):c.*1826T>A single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000347490] Chr16:57882338 [GRCh38]
Chr16:57916242 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.*1149G>A single nucleotide variant Retinitis pigmentosa [RCV000406593] Chr16:57883015 [GRCh38]
Chr16:57916919 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3639G>C (p.Glu1213Asp) single nucleotide variant Retinitis pigmentosa [RCV000370044]|not provided [RCV001859903] Chr16:57884281 [GRCh38]
Chr16:57918185 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*1363_*1364dup duplication Retinitis Pigmentosa, Recessive [RCV000389245] Chr16:57882799..57882800 [GRCh38]
Chr16:57916703..57916704 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) microsatellite Retinitis Pigmentosa, Recessive [RCV000307940]|Retinitis pigmentosa 45 [RCV001535603]|not provided [RCV001371821]|not specified [RCV000174717] Chr16:57949370..57949371 [GRCh38]
Chr16:57983274..57983275 [GRCh37]
Chr16:16q21		 benign|uncertain significance|not provided
NM_001297.4(CNGB1):c.*1828A>T single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000377283] Chr16:57882336 [GRCh38]
Chr16:57916240 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.4(CNGB1):c.*1825T>A single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000390053] Chr16:57882339 [GRCh38]
Chr16:57916243 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.*611G>A single nucleotide variant Retinitis pigmentosa [RCV000325876] Chr16:57883553 [GRCh38]
Chr16:57917457 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*235G>C single nucleotide variant Retinitis pigmentosa [RCV000342332] Chr16:57883929 [GRCh38]
Chr16:57917833 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.4(CNGB1):c.*1827T>A single nucleotide variant Retinitis Pigmentosa, Recessive [RCV000290223] Chr16:57882337 [GRCh38]
Chr16:57916241 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.802C>T (p.Pro268Ser) single nucleotide variant Retinitis pigmentosa [RCV000377694] Chr16:57958445 [GRCh38]
Chr16:57992349 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.746C>A (p.Thr249Asn) single nucleotide variant Retinitis pigmentosa [RCV001119953] Chr16:57959903 [GRCh38]
Chr16:57993807 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu) single nucleotide variant Inborn genetic diseases [RCV003160011]|not provided [RCV000597358] Chr16:57931773 [GRCh38]
Chr16:57965677 [GRCh37]
Chr16:16q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.838-4G>T single nucleotide variant CNGB1-related disorder [RCV003945371]|Retinitis pigmentosa 45 [RCV000625379]|Retinitis pigmentosa [RCV001118433]|not provided [RCV000584837]|not specified [RCV001706680] Chr16:57957381 [GRCh38]
Chr16:57991285 [GRCh37]
Chr16:16q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) single nucleotide variant not provided [RCV000593527] Chr16:57901551 [GRCh38]
Chr16:57935455 [GRCh37]
Chr16:16q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) single nucleotide variant Retinitis pigmentosa [RCV001119757]|not provided [RCV000585175] Chr16:57904765 [GRCh38]
Chr16:57938669 [GRCh37]
Chr16:16q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.705C>T (p.Pro235=) single nucleotide variant not provided [RCV000730166] Chr16:57959944 [GRCh38]
Chr16:57993848 [GRCh37]
Chr16:16q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.1105G>C (p.Glu369Gln) single nucleotide variant not provided [RCV001760725] Chr16:57949369 [GRCh38]
Chr16:57983273 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.832G>C (p.Glu278Gln) single nucleotide variant Retinitis pigmentosa 45 [RCV001002027] Chr16:57958415 [GRCh38]
Chr16:57992319 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001297.5(CNGB1):c.761+2T>A single nucleotide variant Retinitis pigmentosa [RCV000504793] Chr16:57959886 [GRCh38]
Chr16:57993790 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) duplication Retinal dystrophy [RCV001074556]|Retinitis pigmentosa [RCV000504810]|not provided [RCV001213897] Chr16:57897496..57897497 [GRCh38]
Chr16:57931400..57931401 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter) single nucleotide variant Retinitis pigmentosa [RCV000504823] Chr16:57903940 [GRCh38]
Chr16:57937844 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) single nucleotide variant Retinitis pigmentosa 45 [RCV003989545]|Retinitis pigmentosa [RCV000504924]|not provided [RCV002524402] Chr16:57915268 [GRCh38]
Chr16:57949172 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001297.5(CNGB1):c.413-1G>A single nucleotide variant Retinal dystrophy [RCV001074746]|Retinitis pigmentosa 45 [RCV000678544]|Retinitis pigmentosa [RCV000504965]|not provided [RCV001056559] Chr16:57962611 [GRCh38]
Chr16:57996515 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter) single nucleotide variant Retinitis pigmentosa [RCV000505139] Chr16:57897911 [GRCh38]
Chr16:57931815 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2304+6A>G single nucleotide variant not provided [RCV001229007] Chr16:57915243 [GRCh38]
Chr16:57949147 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter) single nucleotide variant Retinitis pigmentosa [RCV000504634] Chr16:57959985 [GRCh38]
Chr16:57993889 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter) single nucleotide variant Retinal dystrophy [RCV001073841]|Retinitis pigmentosa [RCV000504700]|not provided [RCV001384477] Chr16:57916161 [GRCh38]
Chr16:57950065 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.3010G>T (p.Ala1004Ser) single nucleotide variant not provided [RCV000483371] Chr16:57897881 [GRCh38]
Chr16:57931785 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1120_1121+2del deletion not provided [RCV000482330] Chr16:57949351..57949354 [GRCh38]
Chr16:57983255..57983258 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter) single nucleotide variant Retinitis pigmentosa 45 [RCV001294190]|not provided [RCV000483160] Chr16:57904860 [GRCh38]
Chr16:57938764 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs) deletion Retinitis pigmentosa 45 [RCV002496860]|not provided [RCV000479018] Chr16:57903851..57903854 [GRCh38]
Chr16:57937755..57937758 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
NM_001297.5(CNGB1):c.2042C>T (p.Pro681Leu) single nucleotide variant Inborn genetic diseases [RCV003280348] Chr16:57917392 [GRCh38]
Chr16:57951296 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter) single nucleotide variant Retinitis pigmentosa [RCV001199468]|not provided [RCV000578720] Chr16:57963040 [GRCh38]
Chr16:57996944 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.291-5C>T single nucleotide variant not provided [RCV000596096] Chr16:57963069 [GRCh38]
Chr16:57996973 [GRCh37]
Chr16:16q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.2867del (p.Ile956fs) deletion Retinitis pigmentosa [RCV001199467]|not provided [RCV000513606] Chr16:57901553 [GRCh38]
Chr16:57935457 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
GRCh37/hg19 16q13-21(chr16:56950941-60203590)x1 copy number loss not provided [RCV000683823] Chr16:56950941..60203590 [GRCh37]
Chr16:16q13-21		 pathogenic|likely pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) single nucleotide variant Retinitis pigmentosa [RCV001002974]|not provided [RCV001326652]|not specified [RCV003331019] Chr16:57912979 [GRCh38]
Chr16:57946883 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.2958C>T (p.Asn986=) single nucleotide variant Retinitis pigmentosa 45 [RCV001000399]|Retinitis pigmentosa [RCV001121638]|not provided [RCV001425605] Chr16:57901370 [GRCh38]
Chr16:57935274 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2629G>A (p.Gly877Arg) single nucleotide variant Retinal dystrophy [RCV001075433]|Retinitis pigmentosa [RCV001002973]|not provided [RCV001225374] Chr16:57904739 [GRCh38]
Chr16:57938643 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic|uncertain significance
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001297.5(CNGB1):c.2304G>C (p.Lys768Asn) single nucleotide variant Retinitis pigmentosa [RCV001724855] Chr16:57915249 [GRCh38]
Chr16:57949153 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.217+46G>A single nucleotide variant Retinitis pigmentosa 45 [RCV001588034]|not provided [RCV004710329] Chr16:57964441 [GRCh38]
Chr16:57998345 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.1654C>T (p.Arg552Cys) single nucleotide variant Inborn genetic diseases [RCV003160405]|Retinitis pigmentosa 45 [RCV002481967]|not provided [RCV001052331] Chr16:57920534 [GRCh38]
Chr16:57954438 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1667C>A (p.Thr556Lys) single nucleotide variant Retinitis pigmentosa [RCV001119867]|not provided [RCV001058097] Chr16:57920521 [GRCh38]
Chr16:57954425 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1738G>A (p.Glu580Lys) single nucleotide variant not provided [RCV001057434] Chr16:57920450 [GRCh38]
Chr16:57954354 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.838-36G>A single nucleotide variant Retinitis pigmentosa 45 [RCV001588033]|not provided [RCV004715527] Chr16:57957413 [GRCh38]
Chr16:57991317 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.1658C>T (p.Ala553Val) single nucleotide variant not provided [RCV001059259] Chr16:57920530 [GRCh38]
Chr16:57954434 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2271del (p.Asn758fs) deletion Retinitis pigmentosa [RCV000787568] Chr16:57915282 [GRCh38]
Chr16:57949186 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.3131_3149dup (p.Phe1051fs) duplication Retinitis pigmentosa [RCV000787570] Chr16:57897489..57897490 [GRCh38]
Chr16:57931393..57931394 [GRCh37]
Chr16:16q21		 likely pathogenic
GRCh37/hg19 16q21(chr16:57965720-58000714)x3 copy number gain not provided [RCV000751697] Chr16:57965720..58000714 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.875-8C>T single nucleotide variant not provided [RCV000983004] Chr16:57950548 [GRCh38]
Chr16:57984452 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2034G>A (p.Trp678Ter) single nucleotide variant Retinal dystrophy [RCV001075273] Chr16:57917400 [GRCh38]
Chr16:57951304 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.1210-2A>G single nucleotide variant Retinitis pigmentosa 45 [RCV002489581]|not provided [RCV001044110] Chr16:57939594 [GRCh38]
Chr16:57973498 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2186G>A (p.Arg729Gln) single nucleotide variant not provided [RCV001044111] Chr16:57916160 [GRCh38]
Chr16:57950064 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3286G>A (p.Val1096Met) single nucleotide variant Inborn genetic diseases [RCV002553831]|Retinal dystrophy [RCV001074430]|not provided [RCV001057416] Chr16:57888031 [GRCh38]
Chr16:57921935 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) deletion Retinal dystrophy [RCV001075436]|Retinitis pigmentosa 45 [RCV001376469]|not provided [RCV001381259] Chr16:57897490..57897508 [GRCh38]
Chr16:57931394..57931412 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.659C>T (p.Pro220Leu) single nucleotide variant not provided [RCV001037710] Chr16:57959990 [GRCh38]
Chr16:57993894 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.217+6T>C single nucleotide variant not provided [RCV001044227] Chr16:57964481 [GRCh38]
Chr16:57998385 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3340G>C (p.Ala1114Pro) single nucleotide variant not provided [RCV000996279] Chr16:57887977 [GRCh38]
Chr16:57921881 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2634+7G>A single nucleotide variant not provided [RCV000996280] Chr16:57904727 [GRCh38]
Chr16:57938631 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1523C>T (p.Ser508Leu) single nucleotide variant Retinal dystrophy [RCV003890179]|not provided [RCV001044676] Chr16:57931728 [GRCh38]
Chr16:57965632 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.3103G>C (p.Ala1035Pro) single nucleotide variant not provided [RCV001067531] Chr16:57897536 [GRCh38]
Chr16:57931440 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16q21(chr16:57499814-58032169)x3 copy number gain not provided [RCV000996429] Chr16:57499814..58032169 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1958-1G>A single nucleotide variant Retinal dystrophy [RCV001073842]|Retinitis pigmentosa 45 [RCV002250710]|Retinitis pigmentosa [RCV000989611]|not provided [RCV001858711] Chr16:57917477 [GRCh38]
Chr16:57951381 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.1122-2A>T single nucleotide variant Retinitis pigmentosa [RCV000989612] Chr16:57940323 [GRCh38]
Chr16:57974227 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.535G>A (p.Val179Ile) single nucleotide variant not provided [RCV001040756] Chr16:57960530 [GRCh38]
Chr16:57994434 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1373-1G>A single nucleotide variant Retinal dystrophy [RCV001073264] Chr16:57931879 [GRCh38]
Chr16:57965783 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2333G>A (p.Arg778His) single nucleotide variant Inborn genetic diseases [RCV002553157]|not provided [RCV001047101] Chr16:57912966 [GRCh38]
Chr16:57946870 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2088C>G (p.Tyr696Ter) single nucleotide variant Retinal dystrophy [RCV001073811] Chr16:57917346 [GRCh38]
Chr16:57951250 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.3379G>A (p.Gly1127Ser) single nucleotide variant Retinitis pigmentosa [RCV001118103]|not provided [RCV001047418] Chr16:57887938 [GRCh38]
Chr16:57921842 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3692C>T (p.Pro1231Leu) single nucleotide variant Inborn genetic diseases [RCV002554589]|not provided [RCV001069832] Chr16:57884228 [GRCh38]
Chr16:57918132 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1683C>A (p.Ser561Arg) single nucleotide variant not provided [RCV001049551] Chr16:57920505 [GRCh38]
Chr16:57954409 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.635C>T (p.Thr212Ile) single nucleotide variant not provided [RCV001036432] Chr16:57960014 [GRCh38]
Chr16:57993918 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2764G>A (p.Glu922Lys) single nucleotide variant Retinal dystrophy [RCV003890165]|not provided [RCV001036436] Chr16:57903852 [GRCh38]
Chr16:57937756 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1642G>A (p.Asp548Asn) single nucleotide variant not provided [RCV001049651] Chr16:57923274 [GRCh38]
Chr16:57957178 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.534+1G>A single nucleotide variant Retinitis pigmentosa [RCV000778474]|not provided [RCV001379338] Chr16:57960839 [GRCh38]
Chr16:57994743 [GRCh37]
Chr16:16q21		 likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.417C>A (p.Cys139Ter) single nucleotide variant Retinitis pigmentosa [RCV000778475] Chr16:57962606 [GRCh38]
Chr16:57996510 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.161C>G (p.Pro54Arg) single nucleotide variant not provided [RCV001944919] Chr16:57964543 [GRCh38]
Chr16:57998447 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1345del (p.Ala449fs) deletion Retinitis pigmentosa [RCV000787566] Chr16:57939457 [GRCh38]
Chr16:57973361 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.965C>T (p.Thr322Ile) single nucleotide variant Retinitis pigmentosa [RCV000787910]|not provided [RCV001343523] Chr16:57950450 [GRCh38]
Chr16:57984354 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2570_2571insT (p.Glu857fs) insertion Retinitis pigmentosa [RCV000787569] Chr16:57904797..57904798 [GRCh38]
Chr16:57938701..57938702 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2166+1G>A single nucleotide variant Retinitis pigmentosa [RCV000787567] Chr16:57917267 [GRCh38]
Chr16:57951171 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.976G>C (p.Gly326Arg) single nucleotide variant Retinitis pigmentosa [RCV000787819]|not provided [RCV001313563] Chr16:57950439 [GRCh38]
Chr16:57984343 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2085T>A (p.Asp695Glu) single nucleotide variant Retinitis pigmentosa [RCV000787820] Chr16:57917349 [GRCh38]
Chr16:57951253 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3242+9C>A single nucleotide variant Retinitis pigmentosa [RCV001119645]|not provided [RCV002069943] Chr16:57897388 [GRCh38]
Chr16:57931292 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2594A>C (p.Tyr865Ser) single nucleotide variant Retinitis pigmentosa [RCV001119759] Chr16:57904774 [GRCh38]
Chr16:57938678 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2514T>C (p.Phe838=) single nucleotide variant Retinitis pigmentosa [RCV001119760]|not provided [RCV001516178] Chr16:57904854 [GRCh38]
Chr16:57938758 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.2475C>T (p.Tyr825=) single nucleotide variant Retinitis pigmentosa [RCV001119761]|not provided [RCV001511497]|not specified [RCV001699509] Chr16:57911770 [GRCh38]
Chr16:57945674 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.2634+6G>A single nucleotide variant Retinitis pigmentosa [RCV001118216]|not provided [RCV001856554] Chr16:57904728 [GRCh38]
Chr16:57938632 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2634+5C>T single nucleotide variant Retinitis pigmentosa [RCV001118217]|not provided [RCV001226445] Chr16:57904729 [GRCh38]
Chr16:57938633 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.151G>A (p.Glu51Lys) single nucleotide variant Retinitis pigmentosa [RCV001115371]|not provided [RCV001345886] Chr16:57967136 [GRCh38]
Chr16:58001040 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3728C>G (p.Pro1243Arg) single nucleotide variant Retinitis pigmentosa [RCV001116659] Chr16:57884192 [GRCh38]
Chr16:57918096 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1957+6T>C single nucleotide variant Retinitis pigmentosa [RCV001116877]|not provided [RCV001301676] Chr16:57919093 [GRCh38]
Chr16:57952997 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3462+8G>T single nucleotide variant Retinitis pigmentosa [RCV001118102]|not provided [RCV002069907] Chr16:57887847 [GRCh38]
Chr16:57921751 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1863G>A (p.Val621=) single nucleotide variant Retinitis pigmentosa [RCV001118325]|not provided [RCV001505644] Chr16:57919193 [GRCh38]
Chr16:57953097 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*1518T>G single nucleotide variant Retinitis pigmentosa [RCV001119454] Chr16:57882646 [GRCh38]
Chr16:57916550 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*321G>C single nucleotide variant Retinitis pigmentosa [RCV001119540] Chr16:57883843 [GRCh38]
Chr16:57917747 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1028T>C (p.Met343Thr) single nucleotide variant Inborn genetic diseases [RCV004031729]|Retinitis pigmentosa [RCV001118430]|not provided [RCV001054784] Chr16:57950387 [GRCh38]
Chr16:57984291 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*837C>T single nucleotide variant Retinitis pigmentosa [RCV001118008] Chr16:57883327 [GRCh38]
Chr16:57917231 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2623A>G (p.Met875Val) single nucleotide variant Retinitis pigmentosa [RCV001118218] Chr16:57904745 [GRCh38]
Chr16:57938649 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.629G>A (p.Arg210Gln) single nucleotide variant Retinitis pigmentosa [RCV001119955]|not provided [RCV002556564] Chr16:57960020 [GRCh38]
Chr16:57993924 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.568G>A (p.Ala190Thr) single nucleotide variant not provided [RCV001062292] Chr16:57960497 [GRCh38]
Chr16:57994401 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.585G>A (p.Ala195=) single nucleotide variant Retinitis pigmentosa [RCV001119956]|not provided [RCV002069949] Chr16:57960064 [GRCh38]
Chr16:57993968 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*1741T>C single nucleotide variant Retinitis pigmentosa [RCV001119449] Chr16:57882423 [GRCh38]
Chr16:57916327 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16q12.2-21(chr16:53455650-64006604)x3 copy number gain not provided [RCV000848548] Chr16:53455650..64006604 [GRCh37]
Chr16:16q12.2-21		 uncertain significance
GRCh37/hg19 16q21(chr16:57935248-57958159)x1 copy number loss not provided [RCV000847372] Chr16:57935248..57958159 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2153G>C (p.Gly718Ala) single nucleotide variant not provided [RCV001061208]|not specified [RCV003490049] Chr16:57917281 [GRCh38]
Chr16:57951185 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.3686C>T (p.Pro1229Leu) single nucleotide variant not provided [RCV001052367] Chr16:57884234 [GRCh38]
Chr16:57918138 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.185A>G (p.Glu62Gly) single nucleotide variant not provided [RCV001228410] Chr16:57964519 [GRCh38]
Chr16:57998423 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.797C>T (p.Ala266Val) single nucleotide variant not provided [RCV001228247] Chr16:57958450 [GRCh38]
Chr16:57992354 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1122-18C>T single nucleotide variant Retinitis pigmentosa 45 [RCV001000643]|not provided [RCV001519591] Chr16:57940339 [GRCh38]
Chr16:57974243 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.1940G>A (p.Ser647Asn) single nucleotide variant not provided [RCV001229662] Chr16:57919116 [GRCh38]
Chr16:57953020 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3095+1G>A single nucleotide variant not provided [RCV001234045] Chr16:57897795 [GRCh38]
Chr16:57931699 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2026G>A (p.Val676Met) single nucleotide variant not provided [RCV001225751] Chr16:57917408 [GRCh38]
Chr16:57951312 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.805C>T (p.Gln269Ter) single nucleotide variant not provided [RCV001233231] Chr16:57958442 [GRCh38]
Chr16:57992346 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg) single nucleotide variant Retinitis pigmentosa 45 [RCV002250733]|not provided [RCV001225821] Chr16:57901407 [GRCh38]
Chr16:57935311 [GRCh37]
Chr16:16q21		 pathogenic|uncertain significance
NM_001297.5(CNGB1):c.2449G>A (p.Gly817Ser) single nucleotide variant not provided [RCV001205865] Chr16:57911796 [GRCh38]
Chr16:57945700 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2362G>A (p.Val788Met) single nucleotide variant not provided [RCV001234399] Chr16:57912937 [GRCh38]
Chr16:57946841 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3121C>T (p.Arg1041Trp) single nucleotide variant not provided [RCV001237463] Chr16:57897518 [GRCh38]
Chr16:57931422 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1949C>T (p.Pro650Leu) single nucleotide variant not provided [RCV001239288] Chr16:57919107 [GRCh38]
Chr16:57953011 [GRCh37]
Chr16:16q21		 likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.2555C>T (p.Pro852Leu) single nucleotide variant not provided [RCV001237492] Chr16:57904813 [GRCh38]
Chr16:57938717 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.1707G>C (p.Gln569His) single nucleotide variant not provided [RCV001237725] Chr16:57920481 [GRCh38]
Chr16:57954385 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2760G>A (p.Trp920Ter) single nucleotide variant not provided [RCV001237805] Chr16:57903856 [GRCh38]
Chr16:57937760 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1189C>A (p.Pro397Thr) single nucleotide variant not provided [RCV001209909] Chr16:57940254 [GRCh38]
Chr16:57974158 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2893-8C>G single nucleotide variant not provided [RCV001203729] Chr16:57901443 [GRCh38]
Chr16:57935347 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1517C>G (p.Ser506Ter) single nucleotide variant not provided [RCV001238179] Chr16:57931734 [GRCh38]
Chr16:57965638 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.874+2168_970del deletion not provided [RCV001210182] Chr16:57950445..57955173 [GRCh38]
Chr16:57984349..57989077 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.1741A>G (p.Lys581Glu) single nucleotide variant Retinitis pigmentosa 45 [RCV001196465] Chr16:57920447 [GRCh38]
Chr16:57954351 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1276G>A (p.Glu426Lys) single nucleotide variant not provided [RCV001210668] Chr16:57939526 [GRCh38]
Chr16:57973430 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3277G>A (p.Glu1093Lys) single nucleotide variant not provided [RCV001248035] Chr16:57888040 [GRCh38]
Chr16:57921944 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.518C>T (p.Pro173Leu) single nucleotide variant not provided [RCV001211898] Chr16:57960856 [GRCh38]
Chr16:57994760 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3514C>A (p.Gln1172Lys) single nucleotide variant Inborn genetic diseases [RCV003290315] Chr16:57884406 [GRCh38]
Chr16:57918310 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2504G>A (p.Cys835Tyr) single nucleotide variant not provided [RCV001230134] Chr16:57904864 [GRCh38]
Chr16:57938768 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1322C>T (p.Ala441Val) single nucleotide variant Retinitis pigmentosa [RCV001115272]|not provided [RCV001239816] Chr16:57939480 [GRCh38]
Chr16:57973384 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1179C>T (p.Asp393=) single nucleotide variant Retinitis pigmentosa [RCV001115274]|not provided [RCV001726432]|not specified [RCV001700974] Chr16:57940264 [GRCh38]
Chr16:57974168 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.1034+14G>A single nucleotide variant Retinitis pigmentosa [RCV001115275] Chr16:57950367 [GRCh38]
Chr16:57984271 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2412G>A (p.Leu804=) single nucleotide variant Retinitis pigmentosa [RCV001121740] Chr16:57911833 [GRCh38]
Chr16:57945737 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3527C>T (p.Pro1176Leu) single nucleotide variant Retinitis pigmentosa 45 [RCV002497528]|Retinitis pigmentosa [RCV001118100]|not provided [RCV001510505] Chr16:57884393 [GRCh38]
Chr16:57918297 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.1733G>A (p.Arg578Gln) single nucleotide variant Inborn genetic diseases [RCV004032207]|Retinitis pigmentosa [RCV001118326]|not provided [RCV001233760] Chr16:57920455 [GRCh38]
Chr16:57954359 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1418A>G (p.Asp473Gly) single nucleotide variant Retinitis pigmentosa 45 [RCV001196202] Chr16:57931833 [GRCh38]
Chr16:57965737 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*1085A>G single nucleotide variant Retinitis pigmentosa [RCV001116559] Chr16:57883079 [GRCh38]
Chr16:57916983 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2154C>T (p.Gly718=) single nucleotide variant Retinal dystrophy [RCV003890259]|Retinitis pigmentosa [RCV001116875]|not provided [RCV001302846] Chr16:57917280 [GRCh38]
Chr16:57951184 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1957+11G>A single nucleotide variant Retinitis pigmentosa [RCV001116876]|not provided [RCV001509719] Chr16:57919088 [GRCh38]
Chr16:57952992 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.1122-9G>A single nucleotide variant not provided [RCV001247434] Chr16:57940330 [GRCh38]
Chr16:57974234 [GRCh37]
Chr16:16q21		 likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.2170G>T (p.Asp724Tyr) single nucleotide variant Inborn genetic diseases [RCV003249697] Chr16:57916176 [GRCh38]
Chr16:57950080 [GRCh37]
Chr16:16q21		 uncertain significance
NC_000016.9:g.(?_57935236)_(57957304_?)del deletion not provided [RCV003107353] Chr16:57935236..57957304 [GRCh37]
Chr16:16q21		 pathogenic
NC_000016.9:g.(?_57937706)_(57938799_?)del deletion not provided [RCV003107354] Chr16:57937706..57938799 [GRCh37]
Chr16:16q21		 pathogenic
NC_000016.9:g.(?_57938618)_(57957304_?)dup duplication not provided [RCV003107355] Chr16:57938618..57957304 [GRCh37]
Chr16:16q21		 likely pathogenic
NC_000016.9:g.(?_57965600)_(58001190_?)dup duplication not provided [RCV003107356] Chr16:57965600..58001190 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1643+39C>G single nucleotide variant Retinitis pigmentosa 45 [RCV001588031]|not provided [RCV004716782] Chr16:57923234 [GRCh38]
Chr16:57957138 [GRCh37]
Chr16:16q21		 benign
GRCh38/hg38 16q21(chr16:57904875-57923272)x3 copy number gain Retinitis pigmentosa 45 [RCV001543342] Chr16:57904875..57923272 [GRCh38]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3308C>T (p.Ala1103Val) single nucleotide variant Inborn genetic diseases [RCV004034784]|not provided [RCV001244468] Chr16:57888009 [GRCh38]
Chr16:57921913 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.721G>A (p.Ala241Thr) single nucleotide variant not provided [RCV001222310] Chr16:57959928 [GRCh38]
Chr16:57993832 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.3542C>T (p.Thr1181Ile) single nucleotide variant not provided [RCV001226241] Chr16:57884378 [GRCh38]
Chr16:57918282 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.242C>G (p.Ser81Cys) single nucleotide variant not provided [RCV001244665] Chr16:57964178 [GRCh38]
Chr16:57998082 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.610G>A (p.Gly204Arg) single nucleotide variant Inborn genetic diseases [RCV002568612]|not provided [RCV001245071] Chr16:57960039 [GRCh38]
Chr16:57993943 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2173A>G (p.Lys725Glu) single nucleotide variant not provided [RCV001070601] Chr16:57916173 [GRCh38]
Chr16:57950077 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2332C>T (p.Arg778Cys) single nucleotide variant not provided [RCV001227410] Chr16:57912967 [GRCh38]
Chr16:57946871 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.374C>T (p.Pro125Leu) single nucleotide variant not provided [RCV001205617] Chr16:57962981 [GRCh38]
Chr16:57996885 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.163C>G (p.Pro55Ala) single nucleotide variant not provided [RCV001245487] Chr16:57964541 [GRCh38]
Chr16:57998445 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.169G>A (p.Glu57Lys) single nucleotide variant not provided [RCV001245536] Chr16:57964535 [GRCh38]
Chr16:57998439 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3158A>C (p.Asn1053Thr) single nucleotide variant not provided [RCV001054293] Chr16:57897481 [GRCh38]
Chr16:57931385 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2670_2671dup (p.Thr891fs) duplication Retinal dystrophy [RCV003887949]|not provided [RCV001240436] Chr16:57903944..57903945 [GRCh38]
Chr16:57937848..57937849 [GRCh37]
Chr16:16q21		 pathogenic|uncertain significance
NM_001297.5(CNGB1):c.2217+10G>A single nucleotide variant not provided [RCV001243885] Chr16:57916119 [GRCh38]
Chr16:57950023 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*980C>T single nucleotide variant Retinitis pigmentosa [RCV001116560] Chr16:57883184 [GRCh38]
Chr16:57917088 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*954T>C single nucleotide variant Retinitis pigmentosa [RCV001116561] Chr16:57883210 [GRCh38]
Chr16:57917114 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1963A>G (p.Met655Val) single nucleotide variant not provided [RCV001240684] Chr16:57917471 [GRCh38]
Chr16:57951375 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3384A>C (p.Lys1128Asn) single nucleotide variant not provided [RCV001240720] Chr16:57887933 [GRCh38]
Chr16:57921837 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2167-12C>T single nucleotide variant Retinitis pigmentosa [RCV001116874]|not provided [RCV002069888] Chr16:57916191 [GRCh38]
Chr16:57950095 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1786G>A (p.Glu596Lys) single nucleotide variant not provided [RCV001209476] Chr16:57920402 [GRCh38]
Chr16:57954306 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.846_854del (p.Asp282_Gly285delinsGlu) deletion not provided [RCV001227658] Chr16:57957361..57957369 [GRCh38]
Chr16:57991265..57991273 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.209G>A (p.Ser70Asn) single nucleotide variant Inborn genetic diseases [RCV002563128]|not provided [RCV001228045] Chr16:57964495 [GRCh38]
Chr16:57998399 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.428C>T (p.Pro143Leu) single nucleotide variant not provided [RCV001206900] Chr16:57962595 [GRCh38]
Chr16:57996499 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3331G>A (p.Ala1111Thr) single nucleotide variant not provided [RCV001244136] Chr16:57887986 [GRCh38]
Chr16:57921890 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter) single nucleotide variant Retinitis pigmentosa 45 [RCV001376211]|Retinitis pigmentosa [RCV003324552]|not provided [RCV001056558] Chr16:57919160 [GRCh38]
Chr16:57953064 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1685C>T (p.Ala562Val) single nucleotide variant Retinitis pigmentosa [RCV001119866] Chr16:57920503 [GRCh38]
Chr16:57954407 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.21G>C (p.Arg7Ser) single nucleotide variant Retinitis pigmentosa [RCV001118518] Chr16:57967266 [GRCh38]
Chr16:58001170 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.-68G>A single nucleotide variant Retinitis pigmentosa [RCV001118519] Chr16:57971119 [GRCh38]
Chr16:58005023 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*1676A>G single nucleotide variant Retinitis pigmentosa [RCV001119451] Chr16:57882488 [GRCh38]
Chr16:57916392 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*70C>G single nucleotide variant Retinitis pigmentosa [RCV001121541] Chr16:57884094 [GRCh38]
Chr16:57917998 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*595C>G single nucleotide variant Retinitis pigmentosa [RCV001119538]|not provided [RCV004706020] Chr16:57883569 [GRCh38]
Chr16:57917473 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.*451G>C single nucleotide variant Retinitis pigmentosa [RCV001119539] Chr16:57883713 [GRCh38]
Chr16:57917617 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*264T>G single nucleotide variant Retinitis pigmentosa [RCV001119541] Chr16:57883900 [GRCh38]
Chr16:57917804 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3330C>T (p.Asn1110=) single nucleotide variant Retinitis pigmentosa [RCV001119644]|not provided [RCV002556555] Chr16:57887987 [GRCh38]
Chr16:57921891 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.365C>T (p.Thr122Met) single nucleotide variant not provided [RCV001062014] Chr16:57962990 [GRCh38]
Chr16:57996894 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1732C>T (p.Arg578Trp) single nucleotide variant not provided [RCV001057130] Chr16:57920456 [GRCh38]
Chr16:57954360 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.376G>C (p.Ala126Pro) single nucleotide variant CNGB1-related disorder [RCV003953499]|Retinitis pigmentosa [RCV001121945]|not provided [RCV001519030] Chr16:57962979 [GRCh38]
Chr16:57996883 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.1775C>T (p.Thr592Ile) single nucleotide variant not provided [RCV001059684] Chr16:57920413 [GRCh38]
Chr16:57954317 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2361C>T (p.Tyr787=) single nucleotide variant Retinitis pigmentosa [RCV001121742]|not provided [RCV001425062] Chr16:57912938 [GRCh38]
Chr16:57946842 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys) single nucleotide variant Retinitis pigmentosa 45 [RCV002497323]|Retinitis pigmentosa [RCV001002975]|not provided [RCV001039446] Chr16:57915269 [GRCh38]
Chr16:57949173 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1492del (p.Ser498fs) deletion Retinitis pigmentosa 45 [RCV001533207] Chr16:57931759 [GRCh38]
Chr16:57965663 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1801+23T>C single nucleotide variant Retinitis pigmentosa 45 [RCV001588030]|not provided [RCV004715525] Chr16:57920364 [GRCh38]
Chr16:57954268 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.875-39C>T single nucleotide variant Retinitis pigmentosa 45 [RCV001588032]|not provided [RCV004715526] Chr16:57950579 [GRCh38]
Chr16:57984483 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.3185T>G (p.Leu1062Arg) single nucleotide variant Retinitis pigmentosa [RCV001724854] Chr16:57897454 [GRCh38]
Chr16:57931358 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2095G>A (p.Asp699Asn) single nucleotide variant Retinitis pigmentosa 45 [RCV001591923]|not provided [RCV001866163] Chr16:57917339 [GRCh38]
Chr16:57951243 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2274C>A (p.Asn758Lys) single nucleotide variant Inborn genetic diseases [RCV003160547]|not provided [RCV001066431] Chr16:57915279 [GRCh38]
Chr16:57949183 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp) single nucleotide variant Retinal dystrophy [RCV003890269]|Retinitis pigmentosa [RCV001119954]|not provided [RCV001241706] Chr16:57959936 [GRCh38]
Chr16:57993840 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.3609C>T (p.Ala1203=) single nucleotide variant Retinitis pigmentosa [RCV001116660] Chr16:57884311 [GRCh38]
Chr16:57918215 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2738T>C (p.Val913Ala) single nucleotide variant not provided [RCV001047833] Chr16:57903878 [GRCh38]
Chr16:57937782 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2361C>A (p.Tyr787Ter) single nucleotide variant not provided [RCV001215606] Chr16:57912938 [GRCh38]
Chr16:57946842 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.119A>C (p.Glu40Ala) single nucleotide variant not provided [RCV001207496] Chr16:57967168 [GRCh38]
Chr16:58001072 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3728C>T (p.Pro1243Leu) single nucleotide variant not provided [RCV001205020] Chr16:57884192 [GRCh38]
Chr16:57918096 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.3634G>A (p.Glu1212Lys) single nucleotide variant not provided [RCV001217641] Chr16:57884286 [GRCh38]
Chr16:57918190 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2302A>C (p.Lys768Gln) single nucleotide variant Retinal dystrophy [RCV001074283]|not provided [RCV001241224] Chr16:57915251 [GRCh38]
Chr16:57949155 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2495A>G (p.Tyr832Cys) single nucleotide variant Retinal dystrophy [RCV001074639] Chr16:57904873 [GRCh38]
Chr16:57938777 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2527dup (p.Leu843fs) duplication Retinal dystrophy [RCV001074640]|not provided [RCV002554729] Chr16:57904840..57904841 [GRCh38]
Chr16:57938744..57938745 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.*1800C>T single nucleotide variant Retinitis pigmentosa [RCV001117906] Chr16:57882364 [GRCh38]
Chr16:57916268 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2239C>A (p.Pro747Thr) single nucleotide variant Inborn genetic diseases [RCV004609618]|Retinal dystrophy [RCV001074899]|not provided [RCV001233130] Chr16:57915314 [GRCh38]
Chr16:57949218 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2733G>C (p.Lys911Asn) single nucleotide variant Inborn genetic diseases [RCV004609619]|Retinal dystrophy [RCV001074900]|not provided [RCV001233131] Chr16:57903883 [GRCh38]
Chr16:57937787 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2127C>G (p.Phe709Leu) single nucleotide variant Retinal dystrophy [RCV001074946]|not provided [RCV001233766] Chr16:57917307 [GRCh38]
Chr16:57951211 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) single nucleotide variant Retinal dystrophy [RCV001075066]|Retinitis pigmentosa 45 [RCV001784637]|not provided [RCV001384577]|not specified [RCV003987779] Chr16:57967276 [GRCh38]
Chr16:58001180 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001297.5(CNGB1):c.*1810T>G single nucleotide variant Retinitis pigmentosa [RCV001117905] Chr16:57882354 [GRCh38]
Chr16:57916258 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2503T>C (p.Cys835Arg) single nucleotide variant not provided [RCV001049800] Chr16:57904865 [GRCh38]
Chr16:57938769 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1957+2T>G single nucleotide variant Retinitis pigmentosa [RCV001249870] Chr16:57919097 [GRCh38]
Chr16:57953001 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.60del (p.Met21fs) deletion Retinitis pigmentosa [RCV001249871]|not provided [RCV003558761] Chr16:57967227 [GRCh38]
Chr16:58001131 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.2104T>A (p.Tyr702Asn) single nucleotide variant Retinitis pigmentosa [RCV001249872]|not provided [RCV001879767] Chr16:57917330 [GRCh38]
Chr16:57951234 [GRCh37]
Chr16:16q21		 pathogenic|uncertain significance
NM_001297.5(CNGB1):c.838G>A (p.Glu280Lys) single nucleotide variant not provided [RCV001050986] Chr16:57957377 [GRCh38]
Chr16:57991281 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.871A>C (p.Thr291Pro) single nucleotide variant not provided [RCV001205299] Chr16:57957344 [GRCh38]
Chr16:57991248 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*1637C>T single nucleotide variant Retinitis pigmentosa [RCV001119453] Chr16:57882527 [GRCh38]
Chr16:57916431 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys) single nucleotide variant CNGB1-related disorder [RCV003953580]|Inborn genetic diseases [RCV002561664]|Retinitis pigmentosa 45 [RCV002491630]|not provided [RCV001207760] Chr16:57960054 [GRCh38]
Chr16:57993958 [GRCh37]
Chr16:16q21		 benign|likely benign|uncertain significance
NM_001297.5(CNGB1):c.1487C>A (p.Ala496Asp) single nucleotide variant not provided [RCV001230566] Chr16:57931764 [GRCh38]
Chr16:57965668 [GRCh37]
Chr16:16q21		 uncertain significance
NC_000016.10:g.(?_57917268)_(57917476_?)del deletion not provided [RCV001031408] Chr16:57951172..57951380 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2759G>A (p.Trp920Ter) single nucleotide variant not provided [RCV001171915] Chr16:57903857 [GRCh38]
Chr16:57937761 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1532_1535+6del deletion not provided [RCV001236215] Chr16:57931710..57931719 [GRCh38]
Chr16:57965614..57965623 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.873C>A (p.Thr291=) single nucleotide variant Retinitis pigmentosa [RCV001118432]|not provided [RCV001063597] Chr16:57957342 [GRCh38]
Chr16:57991246 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.*1508C>T single nucleotide variant Retinitis pigmentosa [RCV001121449] Chr16:57882656 [GRCh38]
Chr16:57916560 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3488G>A (p.Gly1163Glu) single nucleotide variant Inborn genetic diseases [RCV003166443]|Retinal dystrophy [RCV003887935]|not provided [RCV001234678] Chr16:57884432 [GRCh38]
Chr16:57918336 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr) single nucleotide variant Retinitis pigmentosa 45 [RCV001353011]|Retinitis pigmentosa [RCV001118215]|not provided [RCV001045656] Chr16:57903954 [GRCh38]
Chr16:57937858 [GRCh37]
Chr16:16q21		 likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.3751G>C (p.Glu1251Gln) single nucleotide variant not provided [RCV001233767] Chr16:57884169 [GRCh38]
Chr16:57918073 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*1148C>T single nucleotide variant Retinitis pigmentosa [RCV001121450] Chr16:57883016 [GRCh38]
Chr16:57916920 [GRCh37]
Chr16:16q21		 uncertain significance
NC_000016.10:g.(?_57949353)_(57950540_?)dup duplication not provided [RCV001032605] Chr16:57983257..57984444 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.1148C>T (p.Ser383Leu) single nucleotide variant not provided [RCV001045944] Chr16:57940295 [GRCh38]
Chr16:57974199 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1907A>G (p.His636Arg) single nucleotide variant not provided [RCV001230683] Chr16:57919149 [GRCh38]
Chr16:57953053 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2057A>G (p.Asp686Gly) single nucleotide variant not provided [RCV001230684] Chr16:57917377 [GRCh38]
Chr16:57951281 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1373-3C>A single nucleotide variant Retinitis pigmentosa [RCV001121844]|not provided [RCV001477946] Chr16:57931881 [GRCh38]
Chr16:57965785 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.956A>G (p.Asp319Gly) single nucleotide variant not provided [RCV001236533] Chr16:57950459 [GRCh38]
Chr16:57984363 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2206C>T (p.Arg736Cys) single nucleotide variant Inborn genetic diseases [RCV002570343]|Retinal dystrophy [RCV003887966]|not provided [RCV001246315] Chr16:57916140 [GRCh38]
Chr16:57950044 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*170C>G single nucleotide variant Retinitis pigmentosa [RCV001121540] Chr16:57883994 [GRCh38]
Chr16:57917898 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*24C>A single nucleotide variant Retinitis pigmentosa [RCV001121542] Chr16:57884140 [GRCh38]
Chr16:57918044 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*675G>A single nucleotide variant Retinitis pigmentosa [RCV001118009] Chr16:57883489 [GRCh38]
Chr16:57917393 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.469C>T (p.Arg157Trp) single nucleotide variant Retinitis pigmentosa [RCV001121944]|not provided [RCV001882398] Chr16:57960905 [GRCh38]
Chr16:57994809 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3496G>A (p.Gly1166Ser) single nucleotide variant Retinitis pigmentosa [RCV001118101] Chr16:57884424 [GRCh38]
Chr16:57918328 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.123G>A (p.Pro41=) single nucleotide variant Retinitis pigmentosa [RCV001118517]|not provided [RCV001511921] Chr16:57967164 [GRCh38]
Chr16:58001068 [GRCh37]
Chr16:16q21		 benign|uncertain significance
NM_001297.5(CNGB1):c.1330A>G (p.Lys444Glu) single nucleotide variant not provided [RCV001212864] Chr16:57939472 [GRCh38]
Chr16:57973376 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1431C>A (p.Cys477Ter) single nucleotide variant Retinal dystrophy [RCV001073762]|not provided [RCV001207410] Chr16:57931820 [GRCh38]
Chr16:57965724 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.1667C>T (p.Thr556Met) single nucleotide variant not provided [RCV001228262] Chr16:57920521 [GRCh38]
Chr16:57954425 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.292C>T (p.Pro98Ser) single nucleotide variant Retinitis pigmentosa [RCV001115369]|not provided [RCV001231157] Chr16:57963063 [GRCh38]
Chr16:57996967 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.158T>C (p.Met53Thr) single nucleotide variant Retinitis pigmentosa [RCV001115370]|not provided [RCV001856516] Chr16:57967129 [GRCh38]
Chr16:58001033 [GRCh37]
Chr16:16q21		 uncertain significance
NC_000016.10:g.(?_57903822)_(57911875_?)del deletion not provided [RCV001031581] Chr16:57937726..57945779 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1655G>A (p.Arg552His) single nucleotide variant Inborn genetic diseases [RCV002551454]|not provided [RCV001039693] Chr16:57920533 [GRCh38]
Chr16:57954437 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2605G>A (p.Val869Ile) single nucleotide variant not provided [RCV001040091] Chr16:57904763 [GRCh38]
Chr16:57938667 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1438A>C (p.Met480Leu) single nucleotide variant Inborn genetic diseases [RCV004033992]|not provided [RCV001216253] Chr16:57931813 [GRCh38]
Chr16:57965717 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1625C>T (p.Thr542Ile) single nucleotide variant not provided [RCV001216329] Chr16:57923291 [GRCh38]
Chr16:57957195 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*1680T>C single nucleotide variant Retinitis pigmentosa [RCV001119450] Chr16:57882484 [GRCh38]
Chr16:57916388 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.*1671A>G single nucleotide variant Retinitis pigmentosa [RCV001119452] Chr16:57882493 [GRCh38]
Chr16:57916397 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His) single nucleotide variant Retinal dystrophy [RCV001075071]|not provided [RCV001862592]|not specified [RCV003230635] Chr16:57915259 [GRCh38]
Chr16:57949163 [GRCh37]
Chr16:16q21		 likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.2599A>G (p.Thr867Ala) single nucleotide variant Retinitis pigmentosa [RCV001119758] Chr16:57904769 [GRCh38]
Chr16:57938673 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2527C>T (p.Leu843Phe) single nucleotide variant not provided [RCV001204738] Chr16:57904841 [GRCh38]
Chr16:57938745 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2873G>A (p.Ser958Asn) single nucleotide variant Retinitis pigmentosa [RCV001121639] Chr16:57901547 [GRCh38]
Chr16:57935451 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2853C>T (p.Asp951=) single nucleotide variant Retinitis pigmentosa [RCV001121640]|not provided [RCV001399554] Chr16:57901567 [GRCh38]
Chr16:57935471 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.358A>C (p.Ser120Arg) single nucleotide variant Retinitis pigmentosa [RCV001121946]|not provided [RCV001303638] Chr16:57962997 [GRCh38]
Chr16:57996901 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1024A>G (p.Lys342Glu) single nucleotide variant Inborn genetic diseases [RCV002552046]|Retinal dystrophy [RCV001074214]|Retinitis pigmentosa [RCV001118431]|not provided [RCV001033963] Chr16:57950391 [GRCh38]
Chr16:57984295 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.3424C>G (p.Leu1142Val) single nucleotide variant not provided [RCV002001608] Chr16:57887893 [GRCh38]
Chr16:57921797 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.46C>G (p.Pro16Ala) single nucleotide variant Retinal dystrophy [RCV003887992]|not provided [RCV001294812] Chr16:57967241 [GRCh38]
Chr16:58001145 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2780C>T (p.Ser927Leu) single nucleotide variant Inborn genetic diseases [RCV002543107]|not provided [RCV001304677] Chr16:57903836 [GRCh38]
Chr16:57937740 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3124C>T (p.Arg1042Cys) single nucleotide variant not provided [RCV001312781] Chr16:57897515 [GRCh38]
Chr16:57931419 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16q13-21(chr16:57292407-59103985)x1 copy number loss not provided [RCV001259855] Chr16:57292407..59103985 [GRCh37]
Chr16:16q13-21		 uncertain significance
NM_001297.5(CNGB1):c.1217G>A (p.Trp406Ter) single nucleotide variant not provided [RCV001382839] Chr16:57939585 [GRCh38]
Chr16:57973489 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1881C>A (p.Cys627Ter) single nucleotide variant Retinitis pigmentosa 45 [RCV001262931] Chr16:57919175 [GRCh38]
Chr16:57953079 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257779]|Retinitis pigmentosa 45 [RCV001376487]|not provided [RCV001377367] Chr16:57915260 [GRCh38]
Chr16:57949164 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.2294G>T (p.Arg765Leu) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257780] Chr16:57915259 [GRCh38]
Chr16:57949163 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2641G>A (p.Asp881Asn) single nucleotide variant not provided [RCV001341687] Chr16:57903975 [GRCh38]
Chr16:57937879 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1672A>C (p.Ser558Arg) single nucleotide variant not provided [RCV001319901] Chr16:57920516 [GRCh38]
Chr16:57954420 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1472C>T (p.Pro491Leu) single nucleotide variant Inborn genetic diseases [RCV002545007]|not provided [RCV001307403] Chr16:57931779 [GRCh38]
Chr16:57965683 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2166+13C>T single nucleotide variant not provided [RCV001305600] Chr16:57917255 [GRCh38]
Chr16:57951159 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.396C>T (p.Gly132=) single nucleotide variant not provided [RCV001352577] Chr16:57962858 [GRCh38]
Chr16:57996762 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3145C>T (p.His1049Tyr) single nucleotide variant not provided [RCV001320148] Chr16:57897494 [GRCh38]
Chr16:57931398 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2893G>T (p.Gly965Cys) single nucleotide variant not provided [RCV001316753] Chr16:57901435 [GRCh38]
Chr16:57935339 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2966T>A (p.Val989Glu) single nucleotide variant not provided [RCV001298381] Chr16:57901362 [GRCh38]
Chr16:57935266 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3616G>C (p.Gly1206Arg) single nucleotide variant not provided [RCV001327324] Chr16:57884304 [GRCh38]
Chr16:57918208 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2795-10T>G single nucleotide variant not provided [RCV001319942] Chr16:57901635 [GRCh38]
Chr16:57935539 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2543G>T (p.Gly848Val) single nucleotide variant Retinitis pigmentosa 45 [RCV001330555] Chr16:57904825 [GRCh38]
Chr16:57938729 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.534+4A>G single nucleotide variant not provided [RCV001312743] Chr16:57960836 [GRCh38]
Chr16:57994740 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.724C>G (p.Gln242Glu) single nucleotide variant not provided [RCV001315838] Chr16:57959925 [GRCh38]
Chr16:57993829 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.159+6A>C single nucleotide variant not provided [RCV001309674] Chr16:57967122 [GRCh38]
Chr16:58001026 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2977-8T>G single nucleotide variant not provided [RCV001348734] Chr16:57897922 [GRCh38]
Chr16:57931826 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1910G>A (p.Arg637His) single nucleotide variant Inborn genetic diseases [RCV002548465]|not provided [RCV001349816] Chr16:57919146 [GRCh38]
Chr16:57953050 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2533A>G (p.Thr845Ala) single nucleotide variant not provided [RCV001313700] Chr16:57904835 [GRCh38]
Chr16:57938739 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1354G>A (p.Glu452Lys) single nucleotide variant not provided [RCV001314237] Chr16:57939448 [GRCh38]
Chr16:57973352 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.596G>A (p.Arg199His) single nucleotide variant not provided [RCV001300613] Chr16:57960053 [GRCh38]
Chr16:57993957 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2601G>A (p.Thr867=) single nucleotide variant not provided [RCV001313835] Chr16:57904767 [GRCh38]
Chr16:57938671 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1987G>A (p.Val663Met) single nucleotide variant not provided [RCV001315639] Chr16:57917447 [GRCh38]
Chr16:57951351 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2634+2T>C single nucleotide variant Retinitis pigmentosa 45 [RCV001376253] Chr16:57904732 [GRCh38]
Chr16:57938636 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2166+6T>G single nucleotide variant not provided [RCV001337782] Chr16:57917262 [GRCh38]
Chr16:57951166 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.411A>G (p.Thr137=) single nucleotide variant not provided [RCV001326502] Chr16:57962843 [GRCh38]
Chr16:57996747 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3419C>T (p.Ala1140Val) single nucleotide variant not provided [RCV001315700] Chr16:57887898 [GRCh38]
Chr16:57921802 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.5T>G (p.Leu2Trp) single nucleotide variant not provided [RCV001295919] Chr16:57967282 [GRCh38]
Chr16:58001186 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.446C>T (p.Ala149Val) single nucleotide variant not provided [RCV001361828] Chr16:57962577 [GRCh38]
Chr16:57996481 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu) single nucleotide variant Retinitis pigmentosa 45 [RCV001353007]|not provided [RCV002547573] Chr16:57920530 [GRCh38]
Chr16:57954434 [GRCh37]
Chr16:16q21		 likely pathogenic|uncertain significance
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV001358933] Chr16:57967286 [GRCh38]
Chr16:58001190 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1704C>T (p.Leu568=) single nucleotide variant not provided [RCV001433050] Chr16:57920484 [GRCh38]
Chr16:57954388 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.483G>A (p.Trp161Ter) single nucleotide variant not provided [RCV001382452] Chr16:57960891 [GRCh38]
Chr16:57994795 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2635-2A>T single nucleotide variant Retinitis pigmentosa 45 [RCV001376232]|not provided [RCV001871982] Chr16:57903983 [GRCh38]
Chr16:57937887 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2603dup (p.Val869fs) duplication Retinitis pigmentosa 45 [RCV001376251] Chr16:57904764..57904765 [GRCh38]
Chr16:57938668..57938669 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.980C>G (p.Thr327Arg) single nucleotide variant not provided [RCV001338698] Chr16:57950435 [GRCh38]
Chr16:57984339 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2029C>T (p.Arg677Cys) single nucleotide variant not provided [RCV001359696] Chr16:57917405 [GRCh38]
Chr16:57951309 [GRCh37]
Chr16:16q21		 pathogenic|uncertain significance
NM_001297.5(CNGB1):c.1401G>A (p.Val467=) single nucleotide variant not provided [RCV001391784] Chr16:57931850 [GRCh38]
Chr16:57965754 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2813T>C (p.Val938Ala) single nucleotide variant not provided [RCV001302873] Chr16:57901607 [GRCh38]
Chr16:57935511 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1668G>A (p.Thr556=) single nucleotide variant not provided [RCV001392656] Chr16:57920520 [GRCh38]
Chr16:57954424 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.728C>A (p.Thr243Asn) single nucleotide variant not provided [RCV001371143] Chr16:57959921 [GRCh38]
Chr16:57993825 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2278C>T (p.Leu760Phe) single nucleotide variant not provided [RCV001371213] Chr16:57915275 [GRCh38]
Chr16:57949179 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2582del (p.Gln861fs) deletion Retinitis pigmentosa 45 [RCV001376470] Chr16:57904786 [GRCh38]
Chr16:57938690 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2076G>T (p.Leu692=) single nucleotide variant not provided [RCV001423140] Chr16:57917358 [GRCh38]
Chr16:57951262 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2189A>G (p.Asn730Ser) single nucleotide variant not provided [RCV001349415] Chr16:57916157 [GRCh38]
Chr16:57950061 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1122-2A>G single nucleotide variant Retinitis pigmentosa 45 [RCV001333916] Chr16:57940323 [GRCh38]
Chr16:57974227 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2699C>T (p.Thr900Met) single nucleotide variant Inborn genetic diseases [RCV004036589]|not provided [RCV001349549] Chr16:57903917 [GRCh38]
Chr16:57937821 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1760T>C (p.Ile587Thr) single nucleotide variant Inborn genetic diseases [RCV002538479]|not provided [RCV001297004] Chr16:57920428 [GRCh38]
Chr16:57954332 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1909C>T (p.Arg637Cys) single nucleotide variant not provided [RCV001373870] Chr16:57919147 [GRCh38]
Chr16:57953051 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2977G>A (p.Gly993Arg) single nucleotide variant not provided [RCV001319895] Chr16:57897914 [GRCh38]
Chr16:57931818 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2707T>C (p.Tyr903His) single nucleotide variant not provided [RCV001322756] Chr16:57903909 [GRCh38]
Chr16:57937813 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2794+3A>G single nucleotide variant not provided [RCV001322776] Chr16:57903819 [GRCh38]
Chr16:57937723 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3398G>A (p.Arg1133Gln) single nucleotide variant Inborn genetic diseases [RCV004035944]|Retinal dystrophy [RCV003888040]|not provided [RCV001340595] Chr16:57887919 [GRCh38]
Chr16:57921823 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3415C>G (p.Leu1139Val) single nucleotide variant Inborn genetic diseases [RCV003346514]|not provided [RCV001360470] Chr16:57887902 [GRCh38]
Chr16:57921806 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2531T>A (p.Ile844Asn) single nucleotide variant not provided [RCV001318671] Chr16:57904837 [GRCh38]
Chr16:57938741 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1465G>A (p.Val489Met) single nucleotide variant not provided [RCV001342163] Chr16:57931786 [GRCh38]
Chr16:57965690 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.581C>T (p.Pro194Leu) single nucleotide variant not provided [RCV001323970] Chr16:57960484 [GRCh38]
Chr16:57994388 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1196G>A (p.Ser399Asn) single nucleotide variant not provided [RCV001358909] Chr16:57940247 [GRCh38]
Chr16:57974151 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1699C>T (p.Arg567Trp) single nucleotide variant Retinitis pigmentosa 45 [RCV002493610]|not provided [RCV001306655] Chr16:57920489 [GRCh38]
Chr16:57954393 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1882G>A (p.Asp628Asn) single nucleotide variant Inborn genetic diseases [RCV003346488]|not provided [RCV001338702] Chr16:57919174 [GRCh38]
Chr16:57953078 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1180G>A (p.Gly394Arg) single nucleotide variant not provided [RCV001299205] Chr16:57940263 [GRCh38]
Chr16:57974167 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1495G>C (p.Asp499His) single nucleotide variant not provided [RCV001342263] Chr16:57931756 [GRCh38]
Chr16:57965660 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.97A>G (p.Met33Val) single nucleotide variant not provided [RCV001323027] Chr16:57967190 [GRCh38]
Chr16:58001094 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1554G>C (p.Glu518Asp) single nucleotide variant not provided [RCV001343930] Chr16:57923362 [GRCh38]
Chr16:57957266 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1209+18C>T single nucleotide variant not provided [RCV001368570] Chr16:57940216 [GRCh38]
Chr16:57974120 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2680C>T (p.Arg894Cys) single nucleotide variant not provided [RCV001338955] Chr16:57903936 [GRCh38]
Chr16:57937840 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.584C>T (p.Ala195Val) single nucleotide variant Inborn genetic diseases [RCV003166888]|Retinal dystrophy [RCV003888025]|not provided [RCV001323263] Chr16:57960065 [GRCh38]
Chr16:57993969 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1867G>A (p.Glu623Lys) single nucleotide variant not provided [RCV001347330] Chr16:57919189 [GRCh38]
Chr16:57953093 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1771G>A (p.Val591Ile) single nucleotide variant Retinal dystrophy [RCV003888049]|not provided [RCV001347340] Chr16:57920417 [GRCh38]
Chr16:57954321 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.109G>A (p.Val37Met) single nucleotide variant Retinitis pigmentosa 45 [RCV002493557]|not provided [RCV001296361] Chr16:57967178 [GRCh38]
Chr16:58001082 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.3229C>T (p.Arg1077Trp) single nucleotide variant Retinal dystrophy [RCV003888050]|not provided [RCV001347400] Chr16:57897410 [GRCh38]
Chr16:57931314 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1799C>G (p.Pro600Arg) single nucleotide variant not provided [RCV001363367] Chr16:57920389 [GRCh38]
Chr16:57954293 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3073_3081dup (p.Gly1025_Val1027dup) duplication not provided [RCV001369567] Chr16:57897809..57897810 [GRCh38]
Chr16:57931713..57931714 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.177C>G (p.Phe59Leu) single nucleotide variant not provided [RCV001326922] Chr16:57964527 [GRCh38]
Chr16:57998431 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3G>A (p.Met1Ile) single nucleotide variant Inborn genetic diseases [RCV002357228]|Retinitis pigmentosa 45 [RCV003145614]|not provided [RCV001361794] Chr16:57967284 [GRCh38]
Chr16:58001188 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2083G>A (p.Asp695Asn) single nucleotide variant not provided [RCV001307142] Chr16:57917351 [GRCh38]
Chr16:57951255 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2571A>C (p.Glu857Asp) single nucleotide variant not provided [RCV001321004] Chr16:57904797 [GRCh38]
Chr16:57938701 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1031C>T (p.Pro344Leu) single nucleotide variant not provided [RCV001370604] Chr16:57950384 [GRCh38]
Chr16:57984288 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1151A>G (p.Gln384Arg) single nucleotide variant not provided [RCV001359724] Chr16:57940292 [GRCh38]
Chr16:57974196 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3505G>A (p.Ala1169Thr) single nucleotide variant not provided [RCV001296575] Chr16:57884415 [GRCh38]
Chr16:57918319 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2543G>A (p.Gly848Glu) single nucleotide variant Inborn genetic diseases [RCV002543689]|not provided [RCV001316261] Chr16:57904825 [GRCh38]
Chr16:57938729 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2230A>G (p.Ser744Gly) single nucleotide variant Inborn genetic diseases [RCV003246875]|not provided [RCV001318166] Chr16:57915323 [GRCh38]
Chr16:57949227 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3355A>T (p.Met1119Leu) single nucleotide variant not provided [RCV001300945] Chr16:57887962 [GRCh38]
Chr16:57921866 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3437C>A (p.Ala1146Glu) single nucleotide variant Inborn genetic diseases [RCV002551066]|not provided [RCV001870702] Chr16:57887880 [GRCh38]
Chr16:57921784 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1306G>A (p.Glu436Lys) single nucleotide variant not provided [RCV001323748] Chr16:57939496 [GRCh38]
Chr16:57973400 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2692G>A (p.Asp898Asn) single nucleotide variant not provided [RCV001306293] Chr16:57903924 [GRCh38]
Chr16:57937828 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2903G>A (p.Arg968Gln) single nucleotide variant Retinal dystrophy [RCV003888000]|not provided [RCV001301188] Chr16:57901425 [GRCh38]
Chr16:57935329 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3122G>A (p.Arg1041Gln) single nucleotide variant not provided [RCV001366382] Chr16:57897517 [GRCh38]
Chr16:57931421 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2296T>C (p.Cys766Arg) single nucleotide variant not provided [RCV001325527] Chr16:57915257 [GRCh38]
Chr16:57949161 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2977-5T>A single nucleotide variant not provided [RCV001366672] Chr16:57897919 [GRCh38]
Chr16:57931823 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.973C>T (p.Gln325Ter) single nucleotide variant Retinitis pigmentosa 45 [RCV001269023] Chr16:57950442 [GRCh38]
Chr16:57984346 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.3431C>T (p.Ala1144Val) single nucleotide variant not provided [RCV001296319] Chr16:57887886 [GRCh38]
Chr16:57921790 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.762-4G>T single nucleotide variant not provided [RCV001394730] Chr16:57958489 [GRCh38]
Chr16:57992393 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2880C>T (p.Val960=) single nucleotide variant not provided [RCV001395536] Chr16:57901540 [GRCh38]
Chr16:57935444 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3483C>T (p.Val1161=) single nucleotide variant Retinal dystrophy [RCV003888120]|not provided [RCV001413340] Chr16:57884437 [GRCh38]
Chr16:57918341 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.254T>G (p.Leu85Arg) single nucleotide variant not provided [RCV001326969] Chr16:57964166 [GRCh38]
Chr16:57998070 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.412+18G>T single nucleotide variant not provided [RCV001319089] Chr16:57962824 [GRCh38]
Chr16:57996728 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3063G>A (p.Thr1021=) single nucleotide variant not provided [RCV001396472] Chr16:57897828 [GRCh38]
Chr16:57931732 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.515A>G (p.Gln172Arg) single nucleotide variant not provided [RCV001327071] Chr16:57960859 [GRCh38]
Chr16:57994763 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2539G>A (p.Gly847Arg) single nucleotide variant Retinal dystrophy [RCV003888009]|not provided [RCV001307764] Chr16:57904829 [GRCh38]
Chr16:57938733 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2333G>T (p.Arg778Leu) single nucleotide variant not provided [RCV001348906] Chr16:57912966 [GRCh38]
Chr16:57946870 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.844G>C (p.Asp282His) single nucleotide variant not provided [RCV001298497] Chr16:57957371 [GRCh38]
Chr16:57991275 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1002A>G (p.Glu334=) single nucleotide variant not provided [RCV001412411] Chr16:57950413 [GRCh38]
Chr16:57984317 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3128C>T (p.Thr1043Met) single nucleotide variant Inborn genetic diseases [RCV004034276]|not provided [RCV001313077] Chr16:57897511 [GRCh38]
Chr16:57931415 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2166+7C>T single nucleotide variant not provided [RCV001474956] Chr16:57917261 [GRCh38]
Chr16:57951165 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2651_2658del (p.Gly884fs) deletion not provided [RCV001387059] Chr16:57903958..57903965 [GRCh38]
Chr16:57937862..57937869 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2805del (p.Glu935fs) deletion not provided [RCV001384475] Chr16:57901615 [GRCh38]
Chr16:57935519 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1353C>T (p.Ala451=) single nucleotide variant not provided [RCV001495625] Chr16:57939449 [GRCh38]
Chr16:57973353 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3114C>T (p.Gly1038=) single nucleotide variant not provided [RCV001424937] Chr16:57897525 [GRCh38]
Chr16:57931429 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3420C>A (p.Ala1140=) single nucleotide variant not provided [RCV001506159] Chr16:57887897 [GRCh38]
Chr16:57921801 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.933G>A (p.Pro311=) single nucleotide variant not provided [RCV001516460] Chr16:57950482 [GRCh38]
Chr16:57984386 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.2556C>A (p.Pro852=) single nucleotide variant not provided [RCV001506451] Chr16:57904812 [GRCh38]
Chr16:57938716 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.657C>A (p.Ile219=) single nucleotide variant not provided [RCV001503484] Chr16:57959992 [GRCh38]
Chr16:57993896 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1373-16C>G single nucleotide variant not provided [RCV001497018] Chr16:57931894 [GRCh38]
Chr16:57965798 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.354T>A (p.Val118=) single nucleotide variant not provided [RCV001502965] Chr16:57963001 [GRCh38]
Chr16:57996905 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2218-8G>C single nucleotide variant not provided [RCV001485208] Chr16:57915343 [GRCh38]
Chr16:57949247 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.217+8C>T single nucleotide variant not provided [RCV001474225] Chr16:57964479 [GRCh38]
Chr16:57998383 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3132C>T (p.Ala1044=) single nucleotide variant not provided [RCV001466343] Chr16:57897507 [GRCh38]
Chr16:57931411 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2055G>A (p.Pro685=) single nucleotide variant not provided [RCV001455726] Chr16:57917379 [GRCh38]
Chr16:57951283 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.218-18T>C single nucleotide variant not provided [RCV001512598] Chr16:57964220 [GRCh38]
Chr16:57998124 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.583+2T>C single nucleotide variant not provided [RCV001376888] Chr16:57960480 [GRCh38]
Chr16:57994384 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.1581G>A (p.Ala527=) single nucleotide variant not provided [RCV001484529] Chr16:57923335 [GRCh38]
Chr16:57957239 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.290+11A>G single nucleotide variant not provided [RCV001470935] Chr16:57964119 [GRCh38]
Chr16:57998023 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.290+1G>A single nucleotide variant not provided [RCV001377052] Chr16:57964129 [GRCh38]
Chr16:57998033 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.3129G>A (p.Thr1043=) single nucleotide variant not provided [RCV001501241] Chr16:57897510 [GRCh38]
Chr16:57931414 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.969C>T (p.Ser323=) single nucleotide variant not provided [RCV001478461] Chr16:57950446 [GRCh38]
Chr16:57984350 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2217+9C>T single nucleotide variant not provided [RCV001518976] Chr16:57916120 [GRCh38]
Chr16:57950024 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.339del (p.Ile114fs) deletion not provided [RCV001384187] Chr16:57963016 [GRCh38]
Chr16:57996920 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1443A>G (p.Ala481=) single nucleotide variant Retinal dystrophy [RCV003888165]|not provided [RCV001452909] Chr16:57931808 [GRCh38]
Chr16:57965712 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3729G>A (p.Pro1243=) single nucleotide variant not provided [RCV001472709] Chr16:57884191 [GRCh38]
Chr16:57918095 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1659G>A (p.Ala553=) single nucleotide variant not provided [RCV001474871] Chr16:57920529 [GRCh38]
Chr16:57954433 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2223C>T (p.Asp741=) single nucleotide variant not provided [RCV001438336] Chr16:57915330 [GRCh38]
Chr16:57949234 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1684del (p.Ala562fs) deletion not provided [RCV001387188] Chr16:57920504 [GRCh38]
Chr16:57954408 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.3474G>A (p.Ser1158=) single nucleotide variant not provided [RCV001411934] Chr16:57884446 [GRCh38]
Chr16:57918350 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2763C>T (p.Tyr921=) single nucleotide variant not provided [RCV001411942] Chr16:57903853 [GRCh38]
Chr16:57937757 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2749G>A (p.Val917Ile) single nucleotide variant Inborn genetic diseases [RCV002553996]|not provided [RCV001409485] Chr16:57903867 [GRCh38]
Chr16:57937771 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2265C>T (p.Val755=) single nucleotide variant not provided [RCV001409538] Chr16:57915288 [GRCh38]
Chr16:57949192 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1524G>A (p.Ser508=) single nucleotide variant not provided [RCV001446420] Chr16:57931727 [GRCh38]
Chr16:57965631 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1643+10C>T single nucleotide variant not provided [RCV001428901] Chr16:57923263 [GRCh38]
Chr16:57957167 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3750G>A (p.Ala1250=) single nucleotide variant not provided [RCV001417656] Chr16:57884170 [GRCh38]
Chr16:57918074 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3282G>A (p.Lys1094=) single nucleotide variant not provided [RCV001441576] Chr16:57888035 [GRCh38]
Chr16:57921939 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1555G>A (p.Asp519Asn) single nucleotide variant not provided [RCV001449447] Chr16:57923361 [GRCh38]
Chr16:57957265 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1643+1G>C single nucleotide variant not provided [RCV001379132] Chr16:57923272 [GRCh38]
Chr16:57957176 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2497_2498del (p.Ile833fs) microsatellite not provided [RCV001390404] Chr16:57904870..57904871 [GRCh38]
Chr16:57938774..57938775 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2541G>A (p.Gly847=) single nucleotide variant not provided [RCV001444638] Chr16:57904827 [GRCh38]
Chr16:57938731 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2892+9T>A single nucleotide variant not provided [RCV001410680] Chr16:57901519 [GRCh38]
Chr16:57935423 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1288G>A (p.Glu430Lys) single nucleotide variant Inborn genetic diseases [RCV004611813]|not provided [RCV001416189] Chr16:57939514 [GRCh38]
Chr16:57973418 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.2277C>T (p.Pro759=) single nucleotide variant not provided [RCV001429455] Chr16:57915276 [GRCh38]
Chr16:57949180 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2217+1G>T single nucleotide variant not provided [RCV001379832] Chr16:57916128 [GRCh38]
Chr16:57950032 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.1333del (p.Glu445fs) deletion not provided [RCV001388831] Chr16:57939469 [GRCh38]
Chr16:57973373 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1373-5C>T single nucleotide variant not provided [RCV001411066] Chr16:57931883 [GRCh38]
Chr16:57965787 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2492+1G>A single nucleotide variant not provided [RCV001385718] Chr16:57911752 [GRCh38]
Chr16:57945656 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2304+17C>G single nucleotide variant not provided [RCV001431742] Chr16:57915232 [GRCh38]
Chr16:57949136 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2964T>C (p.Tyr988=) single nucleotide variant not provided [RCV001429829] Chr16:57901364 [GRCh38]
Chr16:57935268 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1125_1126delinsAA (p.Leu376Met) indel not provided [RCV001432062] Chr16:57940317..57940318 [GRCh38]
Chr16:57974221..57974222 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1604_1605inv (p.Val535Ala) inversion not provided [RCV001408931] Chr16:57923311..57923312 [GRCh38]
Chr16:57957215..57957216 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.290+2T>C single nucleotide variant Retinitis pigmentosa [RCV003323871]|not provided [RCV001377501] Chr16:57964128 [GRCh38]
Chr16:57998032 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.291-4G>A single nucleotide variant not provided [RCV001404310] Chr16:57963068 [GRCh38]
Chr16:57996972 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2661C>T (p.Thr887=) single nucleotide variant not provided [RCV001432100] Chr16:57903955 [GRCh38]
Chr16:57937859 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1402C>T (p.Gln468Ter) single nucleotide variant not provided [RCV001382129] Chr16:57931849 [GRCh38]
Chr16:57965753 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.256C>T (p.Arg86Trp) single nucleotide variant Inborn genetic diseases [RCV004611835]|not provided [RCV001494342] Chr16:57964164 [GRCh38]
Chr16:57998068 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.837+10G>A single nucleotide variant not provided [RCV001468439] Chr16:57958400 [GRCh38]
Chr16:57992304 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2538C>T (p.Ile846=) single nucleotide variant not provided [RCV001502036] Chr16:57904830 [GRCh38]
Chr16:57938734 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.978T>C (p.Gly326=) single nucleotide variant not provided [RCV001450519] Chr16:57950437 [GRCh38]
Chr16:57984341 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.160-11G>C single nucleotide variant not provided [RCV001457673] Chr16:57964555 [GRCh38]
Chr16:57998459 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3033C>T (p.Gly1011=) single nucleotide variant CNGB1-related disorder [RCV003965924]|not provided [RCV001465089] Chr16:57897858 [GRCh38]
Chr16:57931762 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1770C>T (p.Asp590=) single nucleotide variant not provided [RCV001465567] Chr16:57920418 [GRCh38]
Chr16:57954322 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2526C>T (p.Thr842=) single nucleotide variant CNGB1-related disorder [RCV003908837]|Inborn genetic diseases [RCV004037934]|not provided [RCV001516117]|not specified [RCV001796541] Chr16:57904842 [GRCh38]
Chr16:57938746 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.1643+8C>T single nucleotide variant not provided [RCV001482620] Chr16:57923265 [GRCh38]
Chr16:57957169 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3095+7C>T single nucleotide variant not provided [RCV001476614] Chr16:57897789 [GRCh38]
Chr16:57931693 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2893-4A>G single nucleotide variant not provided [RCV001499907] Chr16:57901439 [GRCh38]
Chr16:57935343 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.150C>T (p.Ser50=) single nucleotide variant not provided [RCV001451881] Chr16:57967137 [GRCh38]
Chr16:58001041 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.290+8dup duplication not provided [RCV001487386] Chr16:57964121..57964122 [GRCh38]
Chr16:57998025..57998026 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3687G>A (p.Pro1229=) single nucleotide variant not provided [RCV001466483] Chr16:57884233 [GRCh38]
Chr16:57918137 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2492+19C>G single nucleotide variant not provided [RCV001512443] Chr16:57911734 [GRCh38]
Chr16:57945638 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.753C>T (p.Asp251=) single nucleotide variant not provided [RCV001460257] Chr16:57959896 [GRCh38]
Chr16:57993800 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.702G>A (p.Glu234=) single nucleotide variant not provided [RCV001463729] Chr16:57959947 [GRCh38]
Chr16:57993851 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.819T>C (p.His273=) single nucleotide variant not provided [RCV001481596] Chr16:57958428 [GRCh38]
Chr16:57992332 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3717G>C (p.Ser1239=) single nucleotide variant not provided [RCV001468180] Chr16:57884203 [GRCh38]
Chr16:57918107 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2369+10C>A single nucleotide variant not provided [RCV001478335] Chr16:57912920 [GRCh38]
Chr16:57946824 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.165C>T (p.Pro55=) single nucleotide variant not provided [RCV001419068] Chr16:57964539 [GRCh38]
Chr16:57998443 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.346C>T (p.Gln116Ter) single nucleotide variant not provided [RCV001387828] Chr16:57963009 [GRCh38]
Chr16:57996913 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.291-8C>T single nucleotide variant not provided [RCV001405544] Chr16:57963072 [GRCh38]
Chr16:57996976 [GRCh37]
Chr16:16q21		 likely benign
NC_000016.9:g.(?_57984349)_57989077del deletion not provided [RCV001378065]   likely pathogenic
NM_001297.5(CNGB1):c.3693G>A (p.Pro1231=) single nucleotide variant CNGB1-related disorder [RCV003930895]|not provided [RCV001417313] Chr16:57884227 [GRCh38]
Chr16:57918131 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2369+10C>G single nucleotide variant not provided [RCV001417303] Chr16:57912920 [GRCh38]
Chr16:57946824 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2766G>A (p.Glu922=) single nucleotide variant not provided [RCV001495973] Chr16:57903850 [GRCh38]
Chr16:57937754 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2185C>A (p.Arg729=) single nucleotide variant not provided [RCV001486033] Chr16:57916161 [GRCh38]
Chr16:57950065 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2217+10G>T single nucleotide variant not provided [RCV001442827] Chr16:57916119 [GRCh38]
Chr16:57950023 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.90G>A (p.Glu30=) single nucleotide variant CNGB1-related disorder [RCV003931145]|not provided [RCV001523366] Chr16:57967197 [GRCh38]
Chr16:58001101 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.2634+8G>A single nucleotide variant CNGB1-related disorder [RCV003908712]|not provided [RCV001468841]|not specified [RCV001700753] Chr16:57904726 [GRCh38]
Chr16:57938630 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001297.5(CNGB1):c.2373C>A (p.Val791=) single nucleotide variant not provided [RCV001429611] Chr16:57911872 [GRCh38]
Chr16:57945776 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2217+7G>T single nucleotide variant not provided [RCV001485153] Chr16:57916122 [GRCh38]
Chr16:57950026 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2199G>C (p.Leu733=) single nucleotide variant not provided [RCV001415501] Chr16:57916147 [GRCh38]
Chr16:57950051 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.112G>T (p.Glu38Ter) single nucleotide variant not provided [RCV001382296] Chr16:57967175 [GRCh38]
Chr16:58001079 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.561T>A (p.Ala187=) single nucleotide variant not provided [RCV001423840] Chr16:57960504 [GRCh38]
Chr16:57994408 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.1644-2A>G single nucleotide variant not provided [RCV001387374] Chr16:57920546 [GRCh38]
Chr16:57954450 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.534+20G>A single nucleotide variant not provided [RCV001511950] Chr16:57960820 [GRCh38]
Chr16:57994724 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.2658C>T (p.Ala886=) single nucleotide variant not provided [RCV001416819] Chr16:57903958 [GRCh38]
Chr16:57937862 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2976+8G>C single nucleotide variant not provided [RCV001515983] Chr16:57901344 [GRCh38]
Chr16:57935248 [GRCh37]
Chr16:16q21		 benign
NM_001297.5(CNGB1):c.2454C>T (p.Leu818=) single nucleotide variant not provided [RCV001402613] Chr16:57911791 [GRCh38]
Chr16:57945695 [GRCh37]
Chr16:16q21		 likely benign
NC_000016.9:g.(?_57931281)_(57946918_?)dup duplication not provided [RCV003107357] Chr16:57931281..57946918 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.1052A>C (p.Glu351Ala) single nucleotide variant not provided [RCV001760726] Chr16:57949422 [GRCh38]
Chr16:57983326 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2775G>A (p.Trp925Ter) single nucleotide variant Retinitis pigmentosa 45 [RCV001780518]|not provided [RCV003772134] Chr16:57903841 [GRCh38]
Chr16:57937745 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.2544del (p.Leu849fs) deletion Retinitis pigmentosa 45 [RCV001808207]|not provided [RCV003772261] Chr16:57904824 [GRCh38]
Chr16:57938728 [GRCh37]
Chr16:16q21		 pathogenic|likely pathogenic
NM_001297.5(CNGB1):c.347A>G (p.Gln116Arg) single nucleotide variant not provided [RCV001889080] Chr16:57963008 [GRCh38]
Chr16:57996912 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3098T>G (p.Leu1033Trp) single nucleotide variant Inborn genetic diseases [RCV002579632]|not provided [RCV002008228] Chr16:57897541 [GRCh38]
Chr16:57931445 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.623A>G (p.Gln208Arg) single nucleotide variant not provided [RCV001929380] Chr16:57960026 [GRCh38]
Chr16:57993930 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1109A>G (p.Glu370Gly) single nucleotide variant not provided [RCV001914375] Chr16:57949365 [GRCh38]
Chr16:57983269 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2130G>C (p.Gln710His) single nucleotide variant not provided [RCV001874824] Chr16:57917304 [GRCh38]
Chr16:57951208 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.620T>C (p.Leu207Pro) single nucleotide variant not provided [RCV001970605] Chr16:57960029 [GRCh38]
Chr16:57993933 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1651G>C (p.Asp551His) single nucleotide variant not provided [RCV002045180] Chr16:57920537 [GRCh38]
Chr16:57954441 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2634+6G>C single nucleotide variant not provided [RCV001889883] Chr16:57904728 [GRCh38]
Chr16:57938632 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.245C>T (p.Thr82Ile) single nucleotide variant not provided [RCV001970801] Chr16:57964175 [GRCh38]
Chr16:57998079 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1956C>T (p.Thr652=) single nucleotide variant not provided [RCV001945725] Chr16:57919100 [GRCh38]
Chr16:57953004 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2305-2A>G single nucleotide variant not provided [RCV002041002] Chr16:57912996 [GRCh38]
Chr16:57946900 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.1822G>A (p.Glu608Lys) single nucleotide variant not provided [RCV001895349] Chr16:57919234 [GRCh38]
Chr16:57953138 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2795A>G (p.Asp932Gly) single nucleotide variant not provided [RCV001984075] Chr16:57901625 [GRCh38]
Chr16:57935529 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1256A>G (p.Glu419Gly) single nucleotide variant not provided [RCV001971345] Chr16:57939546 [GRCh38]
Chr16:57973450 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2794+6A>G single nucleotide variant not provided [RCV002003640] Chr16:57903816 [GRCh38]
Chr16:57937720 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1932T>G (p.Phe644Leu) single nucleotide variant not provided [RCV001985297] Chr16:57919124 [GRCh38]
Chr16:57953028 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1966_1967delinsCT (p.Tyr656Leu) indel not provided [RCV001870884] Chr16:57917467..57917468 [GRCh38]
Chr16:57951371..57951372 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2767T>A (p.Tyr923Asn) single nucleotide variant not provided [RCV001893547] Chr16:57903849 [GRCh38]
Chr16:57937753 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1678A>C (p.Asn560His) single nucleotide variant not provided [RCV001926779] Chr16:57920510 [GRCh38]
Chr16:57954414 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2135G>A (p.Arg712His) single nucleotide variant not provided [RCV002022334] Chr16:57917299 [GRCh38]
Chr16:57951203 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3106G>C (p.Val1036Leu) single nucleotide variant not provided [RCV001984549] Chr16:57897533 [GRCh38]
Chr16:57931437 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.440_448dup (p.Leu147_Ala149dup) duplication not provided [RCV001965481] Chr16:57962574..57962575 [GRCh38]
Chr16:57996478..57996479 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3571G>A (p.Glu1191Lys) single nucleotide variant not provided [RCV001912338] Chr16:57884349 [GRCh38]
Chr16:57918253 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.290+5T>C single nucleotide variant not provided [RCV002041307] Chr16:57964125 [GRCh38]
Chr16:57998029 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1006G>A (p.Glu336Lys) single nucleotide variant not provided [RCV002003804] Chr16:57950409 [GRCh38]
Chr16:57984313 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1415C>T (p.Thr472Ile) single nucleotide variant not provided [RCV001966346] Chr16:57931836 [GRCh38]
Chr16:57965740 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1355A>G (p.Glu452Gly) single nucleotide variant not provided [RCV001948896] Chr16:57939447 [GRCh38]
Chr16:57973351 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1633A>G (p.Lys545Glu) single nucleotide variant not provided [RCV001908730] Chr16:57923283 [GRCh38]
Chr16:57957187 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2935C>T (p.Arg979Cys) single nucleotide variant Inborn genetic diseases [RCV003247165]|not provided [RCV001910633] Chr16:57901393 [GRCh38]
Chr16:57935297 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1563G>T (p.Glu521Asp) single nucleotide variant not provided [RCV001913050] Chr16:57923353 [GRCh38]
Chr16:57957257 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2977-1G>A single nucleotide variant not provided [RCV001987092] Chr16:57897915 [GRCh38]
Chr16:57931819 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2000G>A (p.Trp667Ter) single nucleotide variant not provided [RCV001895480] Chr16:57917434 [GRCh38]
Chr16:57951338 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.3147C>A (p.His1049Gln) single nucleotide variant not provided [RCV002008067] Chr16:57897492 [GRCh38]
Chr16:57931396 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.416G>A (p.Cys139Tyr) single nucleotide variant Inborn genetic diseases [RCV004041755]|not provided [RCV001911387] Chr16:57962607 [GRCh38]
Chr16:57996511 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2536A>G (p.Ile846Val) single nucleotide variant not provided [RCV001870794] Chr16:57904832 [GRCh38]
Chr16:57938736 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3218A>G (p.Gln1073Arg) single nucleotide variant not provided [RCV001893095] Chr16:57897421 [GRCh38]
Chr16:57931325 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.118del (p.Glu40fs) deletion not provided [RCV001946925] Chr16:57967169 [GRCh38]
Chr16:58001073 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1169G>A (p.Ser390Asn) single nucleotide variant not provided [RCV001871383] Chr16:57940274 [GRCh38]
Chr16:57974178 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1720C>T (p.Leu574Phe) single nucleotide variant not provided [RCV001893235] Chr16:57920468 [GRCh38]
Chr16:57954372 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3582dup (p.Ser1195fs) duplication not provided [RCV001889570] Chr16:57884337..57884338 [GRCh38]
Chr16:57918241..57918242 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2054C>T (p.Pro685Leu) single nucleotide variant Inborn genetic diseases [RCV002592627]|not provided [RCV001983601] Chr16:57917380 [GRCh38]
Chr16:57951284 [GRCh37]
Chr16:16q21		 likely benign|uncertain significance
NM_001297.5(CNGB1):c.1846G>A (p.Ala616Thr) single nucleotide variant not provided [RCV001984416] Chr16:57919210 [GRCh38]
Chr16:57953114 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3143C>T (p.Ala1048Val) single nucleotide variant Retinal dystrophy [RCV003888961]|not provided [RCV002004995] Chr16:57897496 [GRCh38]
Chr16:57931400 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3403C>T (p.Arg1135Trp) single nucleotide variant Inborn genetic diseases [RCV003264148]|not provided [RCV001942638] Chr16:57887914 [GRCh38]
Chr16:57921818 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1363A>T (p.Ser455Cys) single nucleotide variant not provided [RCV001888443] Chr16:57939439 [GRCh38]
Chr16:57973343 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2141A>G (p.Gln714Arg) single nucleotide variant not provided [RCV001883820] Chr16:57917293 [GRCh38]
Chr16:57951197 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1875C>G (p.His625Gln) single nucleotide variant not provided [RCV001940160] Chr16:57919181 [GRCh38]
Chr16:57953085 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1045C>T (p.Arg349Trp) single nucleotide variant not provided [RCV002000392] Chr16:57949429 [GRCh38]
Chr16:57983333 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.112G>C (p.Glu38Gln) single nucleotide variant not provided [RCV001953191] Chr16:57967175 [GRCh38]
Chr16:58001079 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1393C>T (p.Pro465Ser) single nucleotide variant not provided [RCV001960961] Chr16:57931858 [GRCh38]
Chr16:57965762 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2210G>A (p.Arg737His) single nucleotide variant Retinitis pigmentosa 45 [RCV002491988]|not provided [RCV001941097] Chr16:57916136 [GRCh38]
Chr16:57950040 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3462+7_3462+8inv inversion not provided [RCV001942418] Chr16:57887847..57887848 [GRCh38]
Chr16:57921751..57921752 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.3422C>T (p.Ala1141Val) single nucleotide variant Inborn genetic diseases [RCV004046738]|Retinal dystrophy [RCV003889006]|not provided [RCV002017069] Chr16:57887895 [GRCh38]
Chr16:57921799 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2086dup (p.Tyr696fs) duplication not provided [RCV001940871] Chr16:57917347..57917348 [GRCh38]
Chr16:57951251..57951252 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.160-12C>A single nucleotide variant not provided [RCV002046054] Chr16:57964556 [GRCh38]
Chr16:57998460 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3404G>A (p.Arg1135Gln) single nucleotide variant not provided [RCV001943404] Chr16:57887913 [GRCh38]
Chr16:57921817 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1778C>G (p.Ser593Cys) single nucleotide variant not provided [RCV001935896] Chr16:57920410 [GRCh38]
Chr16:57954314 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1802-3C>T single nucleotide variant not provided [RCV001962228] Chr16:57919257 [GRCh38]
Chr16:57953161 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.858A>G (p.Ile286Met) single nucleotide variant not provided [RCV001877067] Chr16:57957357 [GRCh38]
Chr16:57991261 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1418A>T (p.Asp473Val) single nucleotide variant not provided [RCV002037481] Chr16:57931833 [GRCh38]
Chr16:57965737 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3506C>T (p.Ala1169Val) single nucleotide variant not provided [RCV002037495] Chr16:57884414 [GRCh38]
Chr16:57918318 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2134C>T (p.Arg712Cys) single nucleotide variant Inborn genetic diseases [RCV002555346]|not provided [RCV001901420] Chr16:57917300 [GRCh38]
Chr16:57951204 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3255A>T (p.Arg1085Ser) single nucleotide variant not provided [RCV001932289] Chr16:57888062 [GRCh38]
Chr16:57921966 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2219T>C (p.Met740Thr) single nucleotide variant not provided [RCV001900253] Chr16:57915334 [GRCh38]
Chr16:57949238 [GRCh37]
Chr16:16q21		 uncertain significance
NC_000016.9:g.(?_57951152)_(57951400_?)del deletion not provided [RCV001916371] Chr16:57951152..57951400 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.3689del (p.Gly1230fs) deletion not provided [RCV002013040] Chr16:57884231 [GRCh38]
Chr16:57918135 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1208A>G (p.Gln403Arg) single nucleotide variant Inborn genetic diseases [RCV002555805]|not provided [RCV001920418] Chr16:57940235 [GRCh38]
Chr16:57974139 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2748C>T (p.Arg916=) single nucleotide variant not provided [RCV002011697] Chr16:57903868 [GRCh38]
Chr16:57937772 [GRCh37]
Chr16:16q21		 likely benign
NM_001297.5(CNGB1):c.2931G>C (p.Arg977Ser) single nucleotide variant not provided [RCV001870522] Chr16:57901397 [GRCh38]
Chr16:57935301 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2974_2976+992delinsCCCGAGGCACATGTGTGTTGACTGCATAGAGGCGGCAAAGCCTCCTAATCCGCCCCTGCTCTTGG indel not provided [RCV001974089] Chr16:57900360..57901354 [GRCh38]
Chr16:57934264..57935258 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.3062C>T (p.Thr1021Met) single nucleotide variant not provided [RCV001974107] Chr16:57897829 [GRCh38]
Chr16:57931733 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2205_2206del (p.Arg736fs) microsatellite not provided [RCV001994490] Chr16:57916140..57916141 [GRCh38]
Chr16:57950044..57950045 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.709C>A (p.Pro237Thr) single nucleotide variant not provided [RCV001995704] Chr16:57959940 [GRCh38]
Chr16:57993844 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2360A>G (p.Tyr787Cys) single nucleotide variant Retinal dystrophy [RCV003888913]|not provided [RCV001954675] Chr16:57912939 [GRCh38]
Chr16:57946843 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3029T>C (p.Leu1010Ser) single nucleotide variant not provided [RCV001901078] Chr16:57897862 [GRCh38]
Chr16:57931766 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.499G>T (p.Glu167Ter) single nucleotide variant not provided [RCV001899648] Chr16:57960875 [GRCh38]
Chr16:57994779 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1583T>C (p.Leu528Ser) single nucleotide variant not provided [RCV002011001] Chr16:57923333 [GRCh38]
Chr16:57957237 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.553G>A (p.Ala185Thr) single nucleotide variant not provided [RCV002046154] Chr16:57960512 [GRCh38]
Chr16:57994416 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1747A>T (p.Lys583Ter) single nucleotide variant not provided [RCV001953711] Chr16:57920441 [GRCh38]
Chr16:57954345 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.3546C>A (p.Asp1182Glu) single nucleotide variant Inborn genetic diseases [RCV004611932]|not provided [RCV001879433] Chr16:57884374 [GRCh38]
Chr16:57918278 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1799C>T (p.Pro600Leu) single nucleotide variant Inborn genetic diseases [RCV002549034]|not provided [RCV002048857] Chr16:57920389 [GRCh38]
Chr16:57954293 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1693A>G (p.Asn565Asp) single nucleotide variant not provided [RCV001990588] Chr16:57920495 [GRCh38]
Chr16:57954399 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2369+1G>A single nucleotide variant not provided [RCV001989266] Chr16:57912929 [GRCh38]
Chr16:57946833 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.1612T>G (p.Trp538Gly) single nucleotide variant not provided [RCV001991910] Chr16:57923304 [GRCh38]
Chr16:57957208 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1676C>A (p.Thr559Lys) single nucleotide variant Retinitis pigmentosa 45 [RCV002491947]|not provided [RCV001933441] Chr16:57920512 [GRCh38]
Chr16:57954416 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3008A>G (p.Gln1003Arg) single nucleotide variant not provided [RCV001917524] Chr16:57897883 [GRCh38]
Chr16:57931787 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2317T>C (p.Phe773Leu) single nucleotide variant not provided [RCV002049063] Chr16:57912982 [GRCh38]
Chr16:57946886 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.593G>A (p.Gly198Glu) single nucleotide variant not provided [RCV002030571] Chr16:57960056 [GRCh38]
Chr16:57993960 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2897G>A (p.Cys966Tyr) single nucleotide variant Inborn genetic diseases [RCV002561403]|not provided [RCV001940764] Chr16:57901431 [GRCh38]
Chr16:57935335 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3077C>A (p.Ser1026Tyr) single nucleotide variant not provided [RCV001939029] Chr16:57897814 [GRCh38]
Chr16:57931718 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1186C>T (p.Arg396Trp) single nucleotide variant not provided [RCV001956716] Chr16:57940257 [GRCh38]
Chr16:57974161 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2902C>T (p.Arg968Trp) single nucleotide variant Retinitis pigmentosa 45 [RCV002478206]|not provided [RCV001883295] Chr16:57901426 [GRCh38]
Chr16:57935330 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1155G>A (p.Val385=) single nucleotide variant not provided [RCV001885759] Chr16:57940288 [GRCh38]
Chr16:57974192 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2217+2T>C single nucleotide variant not provided [RCV001993825] Chr16:57916127 [GRCh38]
Chr16:57950031 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001297.5(CNGB1):c.2300T>C (p.Leu767Ser) single nucleotide variant not provided [RCV001993871] Chr16:57915253 [GRCh38]
Chr16:57949157 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1035-12A>G single nucleotide variant not provided [RCV002013127] Chr16:57949451 [GRCh38]
Chr16:57983355 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3743A>C (p.Glu1248Ala) single nucleotide variant not provided [RCV001876446] Chr16:57884177 [GRCh38]
Chr16:57918081 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.344C>T (p.Pro115Leu) single nucleotide variant not provided [RCV001884541] Chr16:57963011 [GRCh38]
Chr16:57996915 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.160C>A (p.Pro54Thr) single nucleotide variant not provided [RCV002029706] Chr16:57964544 [GRCh38]
Chr16:57998448 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.60G>C (p.Lys20Asn) single nucleotide variant not provided [RCV001991317] Chr16:57967227 [GRCh38]
Chr16:58001131 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1011_1013del (p.Asn337del) deletion not provided [RCV001902996] Chr16:57950402..57950404 [GRCh38]
Chr16:57984306..57984308 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2026G>C (p.Val676Leu) single nucleotide variant not provided [RCV002016447] Chr16:57917408 [GRCh38]
Chr16:57951312 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3235A>G (p.Lys1079Glu) single nucleotide variant not provided [RCV001915728] Chr16:57897404 [GRCh38]
Chr16:57931308 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1224_1235del (p.Val409_Glu412del) deletion not provided [RCV002029985] Chr16:57939567..57939578 [GRCh38]
Chr16:57973471..57973482 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.382-3C>G single nucleotide variant not provided [RCV002013555] Chr16:57962875 [GRCh38]
Chr16:57996779 [GRCh37]
Chr16:16q21		 pathogenic|uncertain significance
NM_001297.5(CNGB1):c.169G>T (p.Glu57Ter) single nucleotide variant not provided [RCV001958763] Chr16:57964535 [GRCh38]
Chr16:57998439 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.3293T>C (p.Ile1098Thr) single nucleotide variant not provided [RCV001935668] Chr16:57888024 [GRCh38]
Chr16:57921928 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1236G>C (p.Glu412Asp) single nucleotide variant not provided [RCV001881781] Chr16:57939566 [GRCh38]
Chr16:57973470 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2746C>T (p.Arg916Cys) single nucleotide variant not provided [RCV001976095] Chr16:57903870 [GRCh38]
Chr16:57937774 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3704A>G (p.Glu1235Gly) single nucleotide variant Inborn genetic diseases [RCV003161309]|not provided [RCV002031446] Chr16:57884216 [GRCh38]
Chr16:57918120 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2168C>T (p.Thr723Met) single nucleotide variant not provided [RCV002011251] Chr16:57916178 [GRCh38]
Chr16:57950082 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3712C>G (p.Leu1238Val) single nucleotide variant not provided [RCV002027782] Chr16:57884208 [GRCh38]
Chr16:57918112 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1003G>A (p.Glu335Lys) single nucleotide variant not provided [RCV001934583] Chr16:57950412 [GRCh38]
Chr16:57984316 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1941C>A (p.Ser647Arg) single nucleotide variant not provided [RCV001940092] Chr16:57919115 [GRCh38]
Chr16:57953019 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3397C>T (p.Arg1133Trp) single nucleotide variant not provided [RCV002018713] Chr16:57887920 [GRCh38]
Chr16:57921824 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2470G>C (p.Val824Leu) single nucleotide variant not provided [RCV002029571] Chr16:57911775 [GRCh38]
Chr16:57945679 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2795-19T>A single nucleotide variant not provided [RCV002031404] Chr16:57901644 [GRCh38]
Chr16:57935548 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2030G>A (p.Arg677His) single nucleotide variant not provided [RCV002026702] Chr16:57917404 [GRCh38]
Chr16:57951308 [GRCh37]
Chr16:16q21		 pathogenic|uncertain significance
NM_001297.5(CNGB1):c.2948A>G (p.Tyr983Cys) single nucleotide variant not provided [RCV002026729] Chr16:57901380 [GRCh38]
Chr16:57935284 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2095G>C (p.Asp699His) single nucleotide variant not provided [RCV002031308] Chr16:57917339 [GRCh38]
Chr16:57951243 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.769G>A (p.Ala257Thr) single nucleotide variant not provided [RCV001881854] Chr16:57958478 [GRCh38]
Chr16:57992382 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1507G>C (p.Val503Leu) single nucleotide variant not provided [RCV001904731] Chr16:57931744 [GRCh38]
Chr16:57965648 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1770C>A (p.Asp590Glu) single nucleotide variant not provided [RCV001922222] Chr16:57920418 [GRCh38]
Chr16:57954322 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2881_2882delinsAT (p.Ala961Ile) indel not provided [RCV002018680] Chr16:57901538..57901539 [GRCh38]
Chr16:57935442..57935443 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.16C>T (p.Gln6Ter) single nucleotide variant not provided [RCV001957484] Chr16:57967271 [GRCh38]
Chr16:58001175 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.1951dup (p.Leu651fs) duplication not provided [RCV001883573] Chr16:57919104..57919105 [GRCh38]
Chr16:57953008..57953009 [GRCh37]
Chr16:16q21		 pathogenic
NM_001297.5(CNGB1):c.3643C>A (p.Pro1215Thr) single nucleotide variant not provided [RCV001999035] Chr16:57884277 [GRCh38]
Chr16:57918181 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3363C>T (p.Gly1121=) single nucleotide variant not provided [RCV001925140] Chr16:57887954 [GRCh38]
Chr16:57921858 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3578C>T (p.Pro1193Leu) single nucleotide variant not provided [RCV002019658] Chr16:57884342 [GRCh38]
Chr16:57918246 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2936G>A (p.Arg979His) single nucleotide variant not provided [RCV001940819] Chr16:57901392 [GRCh38]
Chr16:57935296 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.3322C>T (p.Leu1108Phe) single nucleotide variant not provided [RCV002018780] Chr16:57887995 [GRCh38]
Chr16:57921899 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.1405G>T (p.Val469Leu) single nucleotide variant not provided [RCV001906497] Chr16:57931846 [GRCh38]
Chr16:57965750 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.290+4C>G single nucleotide variant not provided [RCV001971812] Chr16:57964126 [GRCh38]
Chr16:57998030 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001297.5(CNGB1):c.2606T>C (p.Val869Ala) single nucleotide variant Inborn genetic diseases [RCV002573457]|not provided [RCV0020149