Global Variome shared LOVD
CNGB3 (cyclic nucleotide gated channel beta 3)
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_019098.4 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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1260 entries on 13 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
+/.
13i_18_
c.(1578+1_1579-1)_*1869{0}
r.?
p.?
Parent #2
-
pathogenic (recessive)
g.(?_87586163)_(87623900_87638210)del
g.(?_86573935)_(86611672_86625982)del
del ex14-18
-
CNGB3_000210
-
PubMed: Mayer 2017
SCV000575868
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO42-7872
PubMed: Mayer 2017
2-generation family, 1 affected, unaffected parents
F
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
3i_18_
c.(338+1_339-1)_*1869{0}
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.(?_87586163)_(87683327_87738758)del
g.(?_86573935)_(86671099_86726530)del
del ex4-18
-
CNGB3_000211
-
PubMed: Mayer 2017
SCV000575865
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO822-22727
PubMed: Mayer 2017
2-generation family, 1 affected, unaffected parents
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.-48_(129+1_130-1){0}
r.0?
p.0?
Parent #2
-
pathogenic (recessive)
g.(87751965_87755726)_(87755903_?)del
g.(86739737_86743498)_(86743675_?)del
del ex1
-
CNGB3_000262
-
PubMed: Mayer 2017
SCV000575861
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO996-26158
PubMed: Mayer 2017
2-generation family, 1 affected, unaffected parents
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
6
c.782A<G
r.(?)
p.(Asp261Gly)
Both (homozygous)
-
likely pathogenic
g.87679223A>G
-
-
-
CNGB3_000053
Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ACHM3
-
Sharon, submitted
-
M
yes
Israel
beduin
-
-
-
-
2
Dror Sharon
-/.
-
c.-36T>G
r.(?)
p.(=)
Unknown
-
benign
g.87755891A>C
g.86743663A>C
-
-
CNGB3_000049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
g.?
CNGB3 R296fs
-
RP1_000000
no nucleotide annotation, extrapolated from protein and databases; probably c.886_890del, but c.886_896delinsT also possible; single heterozygous
PubMed: Kellner 2004
-
-
Unknown
?
-
-
-
-
DNA
?
-
-
retinal disease
569
PubMed: Kellner 2004
-
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.2T>C
r.(?)
p.(Met1?)
Parent #1
-
pathogenic (recessive)
g.87755854A>G
g.86743626A>G
-
-
CNGB3_000207
-
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO667
PubMed: Weisschuh 2020
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.2T>C
p.?
p.(Met1?)
Unknown
-
pathogenic (recessive)
g.87755854A>G
g.86743626A>G
-
-
CNGB3_000207
no variant 2nd chromosome (qPCR analysis negative)
PubMed: Mayer 2017
SCV000575803
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO667-19394
PubMed: Mayer 2017
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.2T>C
p.?
p.(Met1?)
Parent #1
-
pathogenic (recessive)
g.87755854A>G
g.86743626A>G
-
-
CNGB3_000207
-
PubMed: Mayer 2017
SCV000575803
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27772
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.3G>A
r.(?)
p.(Met1?)
Parent #1
ACMG
pathogenic (recessive)
g.87755853C>T
g.86743625C>T
-
-
CNGB3_000107
-
PubMed: Mayer 2017
,
PubMed: Matet 2018
SCV000575804
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?;Pat14
PubMed: Mayer 2017
,
PubMed: Matet 2018
-
F
no
-
white
-
-
-
-
1
LOVD
+?/.
-
c.3G>A
r.(?)
p.(Met1?)
Parent #1
-
likely pathogenic
g.87755853C>T
g.86743625C>T
CNGB3 c.[3G>A];[680T>C]
-
CNGB3_000107
heterozygous; protein change not reported
PubMed: Sun 2020
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG
blood
Whole-exome or targeted sequencing
retinal disease
6184
PubMed: Sun 2020
-
M
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.3G>A
r.0?
p.(Met1?)
Unknown
-
likely pathogenic
g.87755853C>T
g.86743625C>T
CNGB3 c.3G>A, (p.Met1?)
-
CNGB3_000107
-
PubMed: Matet 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
tagreted next-generation sequencing
retinal disease
14
PubMed: Matet 2018
-
F
no
France
white
-
-
-
-
1
LOVD
+?/.
-
c.11C>A
r.(?)
p.(Ser4*)
Parent #1
-
likely pathogenic
g.87755845G>T
g.86743617G>T
CNGB3 c.[11C>A];[11C>A]
-
CNGB3_000266
homozygous; protein change not reported
PubMed: Sun 2020
-
-
Unknown
yes
-
-
-
-
DNA
SEQ-NG
blood
Whole-exome or targeted sequencing
retinal disease
10815
PubMed: Sun 2020
-
F
-
China
-
-
-
-
-
1
LOVD
+/.
1
c.29dup
r.(?)
p.(Val11GlyfsTer9)
Parent #1
-
pathogenic (recessive)
g.87755828dup
g.86743600dup
29dupA
-
CNGB3_000265
-
PubMed: Mayer 2017
SCV000575773
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27729
PubMed: Mayer 2017
2 families, 2 affected
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.31dup
r.(?)
p.(Val11GlyfsTer9)
Both (homozygous)
-
pathogenic (recessive)
g.87755826dup
g.86743598dup
31dupG
-
CNGB3_000264
-
PubMed: Mayer 2017
SCV000575774
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27709
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.31G>A
r.(?)
p.(Val11Met)
Unknown
-
VUS
g.87755825C>T
g.86743597C>T
-
-
CNGB3_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.43G>C
r.(?)
p.(Gly15Arg)
Unknown
-
likely benign
g.87755813C>G
g.86743585C>G
CNGB3(NM_019098.4):c.43G>C (p.G15R)
-
CNGB3_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.77G>A
r.(?)
p.(Arg26Gln)
Unknown
-
likely benign
g.87755779C>T
g.86743551C>T
CNGB3(NM_019098.4):c.77G>A (p.R26Q)
-
CNGB3_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.80A>G
r.(?)
p.(Asn27Ser)
Unknown
-
benign
g.87755776T>C
g.86743548T>C
CNGB3(NM_019098.4):c.80A>G (p.N27S)
-
CNGB3_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.80A>G
r.(?)
p.(Asn27Ser)
Unknown
-
benign
g.87755776T>C
g.86743548T>C
CNGB3(NM_019098.4):c.80A>G (p.N27S)
-
CNGB3_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.80A>G
r.(?)
p.(Asn27Ser)
Parent #1
-
VUS
g.87755776T>C
g.86743548T>C
-
-
CNGB3_000027
conflicting interpretations of pathogenicity; 58 heterozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs35807406
Germline
-
58/2792 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
58
Mohammed Faruq
?/.
-
c.80A>G
r.(?)
p.(Asn27Ser)
Both (homozygous)
-
VUS
g.87755776T>C
g.86743548T>C
-
-
CNGB3_000027
conflicting interpretations of pathogenicity; 1 homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs35807406
Germline
-
1/2792 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
+/.
1
c.95dup
r.(?)
p.(His32GlnfsTer4)
Paternal (confirmed)
-
pathogenic (recessive)
g.87755761dup
g.86743533dup
c.95dupA
-
CNGB3_000263
-
PubMed: Mayer 2017
SCV000575775
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO820-26509
PubMed: Mayer 2017
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.105_114del
r.(?)
p.(Gln36Lysfs*44)
Unknown
ACMG
pathogenic
g.87755742_87755751del
-
c.105_114delTCAGTCTCAG
-
CNGB3_000082
-
PubMed: Sharon 2019
-
-
Germline
-
1/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
1 IRD family
-
-
Israel
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.105_114del
r.(?)
p.(Gln36LysfsTer44)
Both (homozygous)
-
pathogenic (recessive)
g.87755742_87755751del
g.86743514_86743523del
c.105_114delTCAGTCTCAG
-
CNGB3_000082
-
PubMed: Aweidah 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
MOL1535-1
PubMed: Aweidah 2021
-
-
yes
Israel
Arab;Christian
-
-
-
-
1
Johan den Dunnen
+/.
-
c.112C>T
r.(?)
p.(Gln38*)
Paternal (confirmed)
-
pathogenic
g.87755744G>A
g.86743516G>A
CNGB3: c.[112C>T];[1208G>A;1673G>T], p.[Q38*];[R403Q;G558V], CNGA3: c.[=];[=]
-
CNGB3_000134
-
PubMed: Burkhard 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
-
retinal disease
3
PubMed: Burkhard 2018
-
F
no
-
-
-
-
-
-
1
LOVD
+/.
1
c.112C>T
r.(?)
p.(Gln38Ter)
Parent #1
-
pathogenic (recessive)
g.87755744G>A
g.86743516G>A
-
-
CNGB3_000134
-
PubMed: Mayer 2017
SCV000575819
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27726
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.112C>T
r.(?)
p.(Gln38Ter)
Parent #1
-
pathogenic (recessive)
g.87755744G>A
g.86743516G>A
-
-
CNGB3_000134
-
PubMed: Mayer 2017
SCV000575819
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27750
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.112C>T
r.(?)
p.(Gln38Ter)
Parent #1
-
pathogenic (recessive)
g.87755744G>A
g.86743516G>A
-
-
CNGB3_000134
-
PubMed: Mayer 2017
SCV000575819
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27790
PubMed: Mayer 2017
1 families, 2 affected
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.112C>T
r.(?)
p.(Gln38Ter)
Parent #1
-
pathogenic (recessive)
g.87755744G>A
g.86743516G>A
-
-
CNGB3_000134
-
PubMed: Varsanyi 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
FamHPatII1
PubMed: Varsanyi 2005
family, 2 affected
F
-
Hungary
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.112C>T
r.(?)
p.(Gln38Ter)
Parent #1
-
pathogenic (recessive)
g.87755744G>A
g.86743516G>A
-
-
CNGB3_000134
-
PubMed: Varsanyi 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
FamHPatII2
PubMed: Varsanyi 2005
-
M
-
Hungary
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.129+1G>A
r.spl
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.87755726C>T
g.86743498C>T
-
-
CNGB3_000118
-
PubMed: Huang 2013
,
PubMed: Huang 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
retinal disease
QT628
PubMed: Huang 2013
,
PubMed: Huang 2016
-
-
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.129+2T>C
r.spl
p.?
Paternal (confirmed)
ACMG
pathogenic (recessive)
g.87755725A>G
g.86743497A>G
-
-
CNGB3_000106
-
PubMed: Mayer 2017
,
PubMed: Matet 2018
SCV000575839
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO909-24852;Pat13
PubMed: Mayer 2017
,
PubMed: Matet 2018
2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives
F
no
-
white
-
-
-
-
2
LOVD
+/.
-
c.129+2T>C
r.spl
p.?
Paternal (confirmed)
ACMG
pathogenic (recessive)
g.87755725A>G
g.86743497A>G
-
-
CNGB3_000106
-
PubMed: Mayer 2017
,
PubMed: Matet 2018
SCV000575839
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO909-24852;Pat15
PubMed: Mayer 2017
,
PubMed: Matet 2018
sister
F
no
-
white
-
-
-
-
1
LOVD
+?/.
-
c.129+2T>C
r.spl
p.(?)
Unknown
-
likely pathogenic
g.87755725A>G
g.86743497A>G
CNGB3 c.129+2T>C, p.(?)
-
CNGB3_000106
-
PubMed: Matet 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
tagreted next-generation sequencing
retinal disease
13
PubMed: Matet 2018
2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives; sibling of 15
F
no
France
white
-
-
-
-
2
LOVD
+?/.
-
c.129+2T>C
r.(?)
p.(?)
Unknown
-
likely pathogenic
g.87755725A>G
g.86743497A>G
CNGB3 c.129+2T>C, p.(?)
-
CNGB3_000106
-
PubMed: Matet 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
tagreted next-generation sequencing
retinal disease
15
PubMed: Matet 2018
sibling of 13
F
no
France
white
-
-
-
-
1
LOVD
-?/.
-
c.130-1161A>C
r.(?)
p.(=)
Unknown
-
likely benign
g.87753125T>G
g.86740897T>G
-
-
CNGB3_000206
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 425,CHRO 216
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.130-1G>T
r.spl
p.?
Both (homozygous)
ACMG
pathogenic (recessive)
g.87751965C>A
g.86739737C>A
-
-
CNGB3_000105
-
PubMed: Mayer 2017
,
PubMed: Matet 2018
SCV000575840
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
?;Pat12
PubMed: Mayer 2017
,
PubMed: Matet 2018
-
M
no
-
white
-
-
-
-
1
LOVD
+?/.
-
c.130-1G>T
r.spl
p.(?)
Unknown
-
likely pathogenic
g.87751965C>A
g.86739737C>A
CNGB3 c.130-1G>T, p.(?)
-
CNGB3_000105
-
PubMed: Matet 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
tagreted next-generation sequencing
retinal disease
12
PubMed: Matet 2018
-
M
no
France
white
-
-
-
-
1
LOVD
+?/.
-
c.130-1G>T
r.spl
p.(?)
Unknown
-
likely pathogenic
g.87751965C>A
g.86739737C>A
CNGB3 c.130-1G>T, p.(?)
-
CNGB3_000105
-
PubMed: Matet 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
tagreted next-generation sequencing
retinal disease
12
PubMed: Matet 2018
-
M
no
France
white
-
-
-
-
1
LOVD
+/.
-
c.133G>T
r.(?)
p.(Glu45Ter)
Unknown
ACMG
pathogenic
g.87751961C>A
g.86739733C>A
CNGB3:NM_019098 c.G133T, p.E45X
-
CNGB3_000144
heterozygous, individual solved, variant causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-333
PubMed: Rodriguez-Munoz 2020
family fRPN-167, proband
F
-
Spain
-
-
-
-
-
1
LOVD
+/.
-
c.133G>T
r.(?)
p.(Glu45Ter)
Unknown
ACMG
pathogenic
g.87751961C>A
g.86739733C>A
c.133G>T; p.(Glu45*)
-
CNGB3_000144
heterozygous, individual solved, variant causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-334
PubMed: Rodriguez-Munoz 2020
family fRPN-167, family member
F
-
Spain
-
-
-
-
-
1
LOVD
-?/.
-
c.183G>A
r.(?)
p.(Thr61=)
Unknown
-
likely benign
g.87751911C>T
g.86739683C>T
CNGB3(NM_019098.4):c.183G>A (p.T61=)
-
CNGB3_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.190del
r.(?)
p.(Glu64Serfs*19)
Parent #2
-
likely pathogenic (recessive)
g.87751904del
g.86739676del
-
-
CNGB3_000098
-
PubMed: Taylor 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
14012482
PubMed: Taylor 2017
no family history retinal disease
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+/.
2
c.190del
r.(?)
p.(Glu64SerfsTer19)
Parent #1
-
pathogenic (recessive)
g.87751904del
g.86739676del
190delG
-
CNGB3_000098
-
PubMed: Mayer 2017
SCV000575776
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27763
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.208C>T
r.(?)
p.(Gln70Ter)
Parent #1
-
pathogenic (recessive)
g.87751886G>A
g.86739658G>A
-
-
CNGB3_000261
-
PubMed: Mayer 2017
SCV000575820
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27718
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.208C>T
r.(?)
p.(Gln70Ter)
Parent #1
-
pathogenic (recessive)
g.87751886G>A
g.86739658G>A
-
-
CNGB3_000261
-
PubMed: Mayer 2017
SCV000575820
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27727
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.208C>T
r.(?)
p.(Gln70Ter)
Parent #1
-
pathogenic (recessive)
g.87751886G>A
g.86739658G>A
-
-
CNGB3_000261
-
PubMed: Mayer 2017
SCV000575820
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27758
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
2
c.210A>G
r.[(130_211del,=)]
p.[(Glu44fs,Gln70=)]
Unknown
ACMG
likely pathogenic
g.87751884T>C
g.86739656T>C
-
-
CNGB3_000293
ACMG PM2_mod, PM3_supp,PVS1_strong; possible digenic, triallelic inheritance; consequence on splicing predicted from in vitro mini-gene splicing assay
Rawnsley 2025, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
ACHM3
CHRO1238
Rawnsley 2025, submitted
-
-
-
Germany
-
-
-
-
-
1
Susanne Kohl
-/.
-
c.211+13T>G
r.(=)
p.(=)
Unknown
-
benign
g.87751870A>C
g.86739642A>C
-
-
CNGB3_000047
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.211+13T>G
r.(=)
p.(=)
Parent #1
-
likely benign
g.87751870A>C
g.86739642A>C
-
-
CNGB3_000047
233 heterozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs66881636
Germline
-
233/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
233
Mohammed Faruq
-?/.
-
c.211+13T>G
r.(=)
p.(=)
Both (homozygous)
-
likely benign
g.87751870A>C
g.86739642A>C
-
-
CNGB3_000047
11 homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs66881636
Germline
-
11/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
11
Mohammed Faruq
-/.
-
c.211+34del
r.(=)
p.(=)
Unknown
-
benign
g.87751866del
g.86739638del
CNGB3(NM_019098.5):c.211+34delA
-
CNGB3_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.211+2085T>G
r.(?)
p.(=)
Unknown
-
likely benign
g.87749798A>C
g.86737570A>C
-
-
CNGB3_000205
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 771,CHRO 1076,CHRO 985,CHRO 26
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
4
Johan den Dunnen
-?/.
-
c.211+2449G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.87749434C>T
g.86737206C>T
-
-
CNGB3_000204
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 675
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.212-5347G>C
r.(?)
p.(=)
Unknown
-
likely benign
g.87744232C>G
g.86732004C>G
-
-
CNGB3_000203
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
RCD 246
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.212-4549T>C
r.(?)
p.(=)
Unknown
-
likely benign
g.87743434A>G
g.86731206A>G
-
-
CNGB3_000202
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 915
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.212-3599T>A
r.(=)
p.(=)
Unknown
-
likely benign
g.87742484A>T
g.86730256A>T
-
-
CNGB3_000201
effect variant predicted form mini-gene splicing analysis in HEK293T cells
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 100,CHRO 262
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+?/.
2i_3i
c.(211+1_212-3180)_(338+2728_339-1)del
r.?
p.?
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.(87683327_87736031)_(87742065_87751882)del
g.(86671099_86723803)_(86729837_86739654)del
arr[hg19]8q21.3 (87736031-87742065=x0
-
CNGB3_000294
-
PubMed: Andersen 2023
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ, SEQ-NG
-
gene panel
ACHM
Pat75
PubMed: Andersen 2023
patient
-
yes
Denmark
-
-
-
-
-
1
Susanne Kohl
+/.
2i_3i
c.212-2527_338+2854del
r.(?)
p.(Asp71Alafs*12)
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.87735908_87741415del
g.86723680_86729187del
del ex3 (g.86723677_86729184del)
-
CNGB3_000103
-
PubMed: Mayer 2017
,
PubMed: Matet 2018
SCV000575862
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO909-24852;Pat13
PubMed: Mayer 2017
,
PubMed: Matet 2018
2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives
F
no
-
white
-
-
-
-
2
LOVD
+/.
2i_3i
c.212-2527_338+2854del
r.(?)
p.(Asp71Alafs*12)
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.87735908_87741415del
g.86723680_86729187del
del ex3 (g.86723677_86729184del)
-
CNGB3_000103
-
PubMed: Mayer 2017
,
PubMed: Matet 2018
SCV000575862
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO909-24852;Pat15
PubMed: Mayer 2017
,
PubMed: Matet 2018
sister
F
no
-
white
-
-
-
-
1
LOVD
-?/.
-
c.212-12T>G
r.(=)
p.(=)
Unknown
-
likely benign
g.87738897A>C
g.86726669A>C
CNGB3(NM_019098.5):c.212-12T>G
-
CNGB3_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.212-3T>C
r.spl?
p.?
Unknown
-
benign
g.87738888A>G
g.86726660A>G
CNGB3(NM_019098.5):c.212-3T>C
-
CNGB3_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.(211+1_212-1)_(338+1_339-1)del
r.(?)
p.(?)
Both (homozygous)
ACMG
likely pathogenic
g.?
g.?
CNGB3 c.(211+1_212-1) _(338+1_339-1)del, c.(211+1_212-1) _(338+1_339-1)del
-
RP1_000000
homozygous
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
93
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
-
c.(211+1_212-1)_(338+1_339-1)del
r.spl
p.(?)
Unknown
-
likely pathogenic
g.?
g.?
CNGB3 ex 3 deletion, p.(?)
-
RP1_000000
-
PubMed: Matet 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
tagreted next-generation sequencing
retinal disease
13
PubMed: Matet 2018
2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives; sibling of 15
F
no
France
white
-
-
-
-
2
LOVD
+?/.
-
c.(211+1_212-1)_(338+1_339-1)del
r.spl
p.(?)
Unknown
-
likely pathogenic
g.?
g.?
CNGB3 ex 3 deletion, p.(?)
-
RP1_000000
-
PubMed: Matet 2018
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
tagreted next-generation sequencing
retinal disease
15
PubMed: Matet 2018
sibling of 13
F
no
France
white
-
-
-
-
1
LOVD
-?/.
-
c.221C>T
r.(?)
p.(Ser74Phe)
Unknown
-
likely benign
g.87738876G>A
-
CNGB3(NM_019098.4):c.221C>T (p.S74F)
-
CNGB3_000104
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.257del
r.(?)
p.(Pro86LeufsTer39)
Parent #1
-
pathogenic (recessive)
g.87738842del
g.86726614del
257delC
-
CNGB3_000260
-
PubMed: Mayer 2017
SCV000575777
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27728
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.265C>T
r.(?)
p.(Gln89Ter)
Parent #1
-
pathogenic (recessive)
g.87738832G>A
g.86726604G>A
-
-
CNGB3_000200
-
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO480
PubMed: Weisschuh 2020
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.265C>T
r.(?)
p.(Gln89Ter)
Unknown
-
pathogenic (recessive)
g.87738832G>A
g.86726604G>A
-
-
CNGB3_000200
no variant 2nd chromosome (no qPCR analysis)
PubMed: Mayer 2017
SCV000575821
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO480-15977
PubMed: Mayer 2017
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.281_284del
r.(?)
p.(Pro94LeufsTer30)
Parent #1
-
pathogenic (recessive)
g.87738816_87738819del
g.86726588_86726591del
281_284delCAAC
-
CNGB3_000259
-
PubMed: Mayer 2017
SCV000575778
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27793
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.283A>C
r.(?)
p.(Thr95Pro)
Unknown
-
VUS
g.87738814T>G
g.86726586T>G
CNGB3(NM_019098.4):c.283A>C (p.T95P)
-
CNGB3_000071
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.301C>T
r.(?)
p.(Gln101Ter)
Unknown
-
pathogenic
g.87738796G>A
g.86726568G>A
-
-
CNGB3_000046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.301C>T
r.(?)
p.(Gln101Ter)
Parent #1
-
pathogenic (recessive)
g.87738796G>A
g.86726568G>A
-
-
CNGB3_000046
-
PubMed: Mayer 2017
SCV000575822
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27766
PubMed: Mayer 2017
1 families, 3 affected
-
-
-
-
-
-
-
-
3
Johan den Dunnen
+/.
3
c.301C>T
r.(?)
p.(Gln101Ter)
Parent #1
-
pathogenic (recessive)
g.87738796G>A
g.86726568G>A
-
-
CNGB3_000046
-
PubMed: Mayer 2017
SCV000575822
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27791
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.319G>A
r.(?)
p.(Gly107Arg)
Unknown
-
VUS
g.87738778C>T
g.86726550C>T
CNGB3(NM_019098.4):c.319G>A (p.G107R)
-
CNGB3_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.338+465G>T
r.(?)
p.(=)
Unknown
-
likely benign
g.87738294C>A
g.86726066C>A
-
-
CNGB3_000199
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
MST 137
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.338+1820G>C
r.(?)
p.(=)
Unknown
-
likely benign
g.87736939C>G
g.86724711C>G
-
-
CNGB3_000198
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
ZD 203
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.338+4727G>T
r.(?)
p.(=)
Unknown
-
likely benign
g.87734032C>A
g.86721804C>A
-
-
CNGB3_000197
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 100,CHRO 262
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
2
Johan den Dunnen
-?/.
-
c.338+12250C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.87726509G>A
g.86714281G>A
-
-
CNGB3_000196
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
RCD 246
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.338+14712G>T
r.(?)
p.(=)
Unknown
-
likely benign
g.87724047C>A
g.86711819C>A
-
-
CNGB3_000195
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
MDS 155
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.338+16163G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.87722596C>T
g.86710368C>T
-
-
CNGB3_000194
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
MST 137,CHRO 559
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
2
Johan den Dunnen
-?/.
-
c.338+18721C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.87720038G>A
g.86707810G>A
-
-
CNGB3_000193
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
RCD 246
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.339-12423_339-12418dup
r.(?)
p.(=)
Unknown
-
likely benign
g.87695745_87695750dup
g.86683517_86683522dup
-
-
CNGB3_000192
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 216
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.339-9886C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.87693212G>A
g.86680984G>A
-
-
CNGB3_000191
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 1069
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.339-5537G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.87688863C>T
g.86676635C>T
-
-
CNGB3_000190
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 274
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.339-2593A>G
r.(?)
p.(=)
Unknown
-
likely benign
g.87685919T>C
g.86673691T>C
-
-
CNGB3_000189
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 100
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.339-1034C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.87684360G>A
g.86672132G>A
-
-
CNGB3_000188
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 425
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.339-760C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.87684086G>A
g.86671858G>A
-
-
CNGB3_000187
-
PubMed: Weisschuh 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO 1097
PubMed: Weisschuh 2020
analysis complete CNGB3 gene in achromatopsia cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.339-10del
r.(=)
p.(=)
Unknown
-
likely benign
g.87683343del
-
CNGB3(NM_019098.5):c.339-10delT
-
CNGB3_000280
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.(338+1_339-1)_(*1869_?)del
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.?
g.?
CNGB3, variant 1 :Deletion exon 4-18, variant 2 :Deletion exon 4-18
-
RP1_000000
solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET2 targeted sequencing panel - see paper
retinal disease
1157
PubMed: Weisschuh 2020
Filing key number: 822, achromatopsia, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+?/.
-
c.372_375del
r.(?)
p.(Ile124Metfs*12)
Both (homozygous)
-
likely pathogenic
g.87683292_87683295del
g.86671064_86671067del
Allele 1 c.372_375del (p.Ile124Metfs*12), Allele 2 c.372_375del (p.Ile124Metfs*12)
-
CNGB3_000141
homozygous
PubMed: Khan 2019
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
?
-
retrospective study
retinal disease
-
PubMed: Khan 2019
-
M
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.385G>A
r.(?)
p.(Asp129Asn)
Unknown
-
VUS
g.87683280C>T
-
CNGB3(NM_019098.4):c.385G>A (p.D129N)
-
CNGB3_000275
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
4
c.391C>T
r.(?)
p.(Gln131*)
Both (homozygous)
-
likely pathogenic
g.87683274G>A
-
p.Q131X
-
CNGB3_000090
-
PubMed: Nishiguchi 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Nishiguchi 2005
-
-
-
-
-
-
-
-
-
1
Julia Lopez
+/.
4
c.391C>T
r.(?)
p.(Gln131Ter)
Parent #1
-
pathogenic (recessive)
g.87683274G>A
g.86671046G>A
-
-
CNGB3_000090
-
PubMed: Mayer 2017
SCV000575823
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27720
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.391C>T
r.(?)
p.(Gln131Ter)
Parent #2
-
likely pathogenic
g.87683274G>A
g.86671046G>A
CNGB3 Q131X
-
CNGB3_000090
no nucleotide annotation, extrapolated from protein and databases; heterozygous
PubMed: Kellner 2004
-
-
Unknown
?
-
-
-
-
DNA
?
-
-
retinal disease
1467
PubMed: Kellner 2004
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
4
c.393_394delinsTCCTGGTGA
r.(?)
p.(Gln131HisfsTer50)
Parent #1
-
pathogenic (recessive)
g.87683271_87683272delinsTCACCAGGA
g.86671043_86671044delinsTCACCAGGA
-
-
CNGB3_000256
-
PubMed: Mayer 2017
SCV000575779
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
CHRO1069-27788
PubMed: Mayer 2017
family, 1 affected
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.393_394delinsTCCTGGTGA
r.(?)
p.(Gln131HisfsTer50)
Maternal (confirmed)
-
pathogenic (recessive)
g.87683271_87683272delinsTCACCAGGA
g.86671043_86671044delinsTCACCAGGA
393_394delGCinsTCCTGGTGA
-
CNGB3_000256
-
PubMed: Wawrocka 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
Pat3
PubMed: Wawrocka 2014
2-generation family, 1 affected, unaffected heterozygous carrier parents
M
-
Poland
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.397C>T
r.(?)
p.(His133Tyr)
Parent #1
-
VUS
g.87683268G>A
g.86671040G>A
-
-
CNGB3_000091
-
PubMed: Zenteno 2020
-
-
Germline
-
1/143 cases
-
-
-
DNA
SEQ, SEQ-NG
-
199 gene panel
retinal disease
3580
PubMed: Zenteno 2020
single patient
-
-
Mexico
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.442A>G
r.(?)
p.(Lys148Glu)
Both (homozygous)
-
VUS
g.87683223T>C
-
-
-
CNGB3_000208
-
PubMed: Rojas 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
family
PubMed: Rojas 2002
6-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives
F;M
yes
Chile
Hispanic
-
-
-
-
1
Johan den Dunnen
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