Global Variome shared LOVD
BBS2 (Bardet-Biedl syndrome 2)
LOVD v.3.0 Build 30b [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View BBS2 gene homepage
View graphs about the BBS2 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene BBS2
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene BBS2
View all variants in gene BBS2
Full data view for gene BBS2
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene BBS2
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene BBS2
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene BBS2
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Full data view for gene BBS2
This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_031885.3 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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
448 entries on 5 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
5
Next
Last »
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
-/.
-
c.-344A>G
r.(?)
p.(=)
Unknown
-
benign
g.56554118T>C
g.56520206T>C
-
-
OGFOD1_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-318C>G
r.(?)
p.(=)
Unknown
-
benign
g.56554092G>C
g.56520180G>C
-
-
OGFOD1_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.-234-1G>C
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.56554009C>G
-
IVS1-1G>C
-
BBS2_000142
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
one BBS2 mutation but excluded genetically from the BBS2 locus; Unknown 2nd allele
-
-
-
-
-
-
-
-
1
LOVD
-/.
-
c.-225C>T
r.(?)
p.(=)
Unknown
-
benign
g.56553999G>A
g.56520087G>A
-
-
BBS2_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-42T>G
r.(?)
p.(=)
Unknown
-
benign
g.56553816A>C
g.56519904A>C
-
-
BBS2_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.-42T>G
r.(=)
p.(=)
Unknown
-
benign
g.56553816A>C
-
-42T>G
-
BBS2_000092
-
PubMed: Duelund Hjortshoj-2010
-
-
Germline
-
0.07
-
-
-
DNA, RNA
DHPLC, arraySNP, RT-PCR
blood
-
retinal disease
-
PubMed: Duelund Hjortshoj-2010
-
-
-
-
-
-
-
-
-
1
LOVD
-/.
-
c.-40T>C
r.(?)
p.(=)
Unknown
-
benign
g.56553814A>G
g.56519902A>G
-
-
BBS2_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.-40T>C
r.(=)
p.(=)
Unknown
-
benign
g.56553814A>G
-
-40T>C
-
BBS2_000091
-
PubMed: Duelund Hjortshoj-2010
-
-
Germline
-
0.07
-
-
-
DNA, RNA
DHPLC, arraySNP, RT-PCR
blood
-
retinal disease
-
PubMed: Duelund Hjortshoj-2010
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
R634P
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.?
-
R275X
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
yes
0/192 ethnically matched control chromosomes
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.?
-
Y24X
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.?
-
D170fsX171
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
homozygous by descent BBS1
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.?
-
C210fsX246
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
Y24X
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
BBS2-linkage
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
Q59X
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
one BBS2 mutation but excluded genetically from the BBS2 locus; Unknown 2nd allele
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
R275X
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
one BBS2 mutation but excluded genetically from the BBS2 locus; 2nd and 3rd allele BBS1
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
V158fsX200
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
-
0/192 ethnically matched control chromosomes
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
one BBS2 mutation but excluded genetically from the BBS2 locus; 2nd and 3rd allele BBS1
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
R216X
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
L168fsX170
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.?
-
Y24X
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
Q59X
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
two BBS2 mutations found in unaffected individuals
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
Y24X
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
two BBS2 mutations found in unaffected individuals
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.?
-
T560I
-
CRYM_000000
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
two BBS2 mutations found in unaffected individuals; homozygous by descent BBS4
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.?
-
p.[D104A]+[R632P]
-
CRYM_000000
-
PubMed: Bin-2009
-
-
Germline
-
-
-
-
-
DNA, RNA
SEQ, RT-PCR
-
-
retinal disease
-
PubMed: Bin-2009
-
-
-
-
Russian
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.?
-
p.[D104A]+[R632P]
-
CRYM_000000
-
PubMed: Bin-2009
-
-
Germline
-
-
-
-
-
DNA, RNA
SEQ, RT-PCR
-
-
retinal disease
-
PubMed: Bin-2009
-
-
-
-
Russian
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
Y24X
-
CRYM_000000
-
PubMed: Muller-2010
, Katsanis 2001
-
-
Germline
-
-
-
-
-
DNA
?
blood
ASPER microarray
retinal disease
-
PubMed: Muller-2010
, Katsanis 2001
-
-
-
-
Australia
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.?
-
R275X
-
CRYM_000000
-
PubMed: Badano-2003
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Badano-2003
-
F
no
-
northern Italy
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.?
-
R275X
-
CRYM_000000
-
PubMed: Badano-2003
-
-
Germline
-
-
-
-
-
DNA
PCR
blood
-
retinal disease
-
PubMed: Badano-2003
-
M
no
-
northern Italy
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
Q59X
-
CRYM_000000
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Beales 2003
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
I168fsX170
-
CRYM_000000
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
R275X
-
CRYM_000000
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
R275X
-
CRYM_000000
-
PubMed: Eichers-2009
, Badano 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic (recessive)
g.?
-
T560I
-
CRYM_000000
four mutant alleles are potentially necessary for disease pathogenesis.
PubMed: Eichers-2009
, Katsanis 2002
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Badano 2003
one unaffected sibling and the unaffected mother of this BBS patient carry one mutant BBS2 allele and two mutant BBS4 alleles.
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
[p.G81C]
-
CRYM_000000
-
PubMed: Imhoff-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Imhoff-2011
-
-
-
-
white
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
[p.L536L]
-
CRYM_000000
normal 2nd chromosome
PubMed: Imhoff-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Imhoff-2011
-
-
-
-
white
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Parent #1
-
likely pathogenic
g.?
-
[p.L88R];[p.N461KfsX10]
-
CRYM_000000
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
-
M
-
-
Ghanian
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Parent #2
-
likely pathogenic
g.?
-
[p.I330T];[p.R483X]
-
CRYM_000000
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
novel
-
-
-
white
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Parent #2
-
likely pathogenic
g.?
-
[p.M242RfsX83];[p.M390R]
-
CRYM_000000
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
-
-
-
-
English/Scottish/Irish/German/Icelandic
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Parent #2
-
likely pathogenic
g.?
-
[p.M390R];[p.L505PfsX52]
-
CRYM_000000
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
-
F
-
-
English/Irish/Scottish
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Parent #2
-
likely pathogenic
g.?
-
[p.G162fsX4];[p.I334fsX1]
-
CRYM_000000
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
novel
F
-
-
Mexican
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Parent #2
-
likely pathogenic
g.?
-
[p.C91LfsX5];[p.E104KfsX7]
-
CRYM_000000
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
-
M
-
-
English/Irish/Scottish
-
-
-
-
1
LOVD
+/.
6i
c.?
r.spl?
p.?
Unknown
-
pathogenic
g.56540030?
-
c.IVS6+2(h)
-
CRYM_000000
-
PubMed: Janssen-2011
-
-
Germline
-
0.008
-
-
-
DNA
SEQ, HD
-
SEQ or HD
retinal disease
A3436-II1
PubMed: Janssen-2011
-
-
-
Turkey
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.R413*
Unknown
-
pathogenic
g.?
-
p.R413X;p.R480X
-
CRYM_000000
-
PubMed: Hirano 2015
-
-
Germline
-
-
-
-
-
DNA, RNA
SEQ, PCR
blood
-
retinal disease
-
PubMed: Hirano 2015
-
M
no
Japan
Japanese
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.(R48*)
Unknown
-
pathogenic
g.?
-
p.R413X;p.R480X
-
CRYM_000000
-
PubMed: Hirano 2015
-
-
Germline
-
-
-
-
-
DNA, RNA
SEQ, PCR
blood
-
retinal disease
-
PubMed: Hirano 2015
-
M
no
Japan
Japanese
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.?
-
c.535-79_90del/N
-
CRYM_000000
normal 2nd chromosome
PubMed: Esposito 2017
-
-
Germline
-
-
-
-
-
DNA
arraySNP
blood
BBS-ALMS1 mutation array
retinal disease
P.12
PubMed: Esposito 2017
-
-
-
Italy
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
g.?
BBS2 I234V
-
CRYM_000000
homozygous; no nucleotide annotation, could not be extrapolated from protein and databases, as no known transcripts contain Ile in the position 234
PubMed: Heon 2005
-
-
Germline
yes
-
-
-
-
DNA
?
-
-
BBS
?
PubMed: Heon 2005
10 affected individuals from the family mapped to the BBS2 locus
-
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.1A>G
r.(?)
p.(Met1?)
Unknown
-
VUS
g.56553774T>C
g.56519862T>C
-
-
BBS2_000110
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs753338961
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
?/.
-
c.1A>G
r.(?)
p.(Met1?)
Unknown
ACMG
VUS
g.56553774T>C
g.56519862T>C
BBS2 c.A1G, p.M1V
-
BBS2_000110
marked as causative, heterozygous
PubMed: Ma 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
-
whole exome sequencing
retinal disease
155
PubMed: Ma 2021
-
?
-
Korea
-
-
-
-
-
1
LOVD
+/.
-
c.2T>G
r.(?)
p.(Met1?)
Unknown
-
pathogenic
g.56553773A>C
g.56519861A>C
-
-
BBS2_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.68G>C
r.(?)
p.(Arg23Pro)
Both (homozygous)
-
pathogenic
g.56553707C>G
-
68G/C (R23P)
-
BBS2_000132
-
PubMed: Harville-2010
-
-
Germline
-
0/90 ethnically matched controls
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Harville-2010
-
-
yes
Turkey
-
-
-
-
-
1
LOVD
+?/.
-
c.72C>G
r.(?)
p.(Tyr24*)
Parent #1
-
likely pathogenic
g.56553703G>C
g.56519791G>C
-
-
BBS2_000119
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
615
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+/.
-
c.72C>G
r.(?)
p.(Tyr24Ter)
Parent #2
-
pathogenic (recessive)
g.56553703G>C
g.56519791G>C
-
-
BBS2_000119
-
PubMed: Consugar 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
-
238-gene panel
retinal disease
OGI-297-650
PubMed: Consugar 2015
-
-
-
United States
-
-
-
-
-
1
LOVD
+/.
-
c.72C>G
r.(?)
p.(Tyr24*)
Unknown
ACMG
pathogenic
g.56553703G>C
g.56519791G>C
BBS2 c.72C>G, p.(Tyr24*)
-
BBS2_000119
single heterozygous variant (recessive)
PubMed: Jespersgaar 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
125 genes associated with inherited retinal disorders, see paper supplemental data
retinal disease
355
PubMed: Jespersgaar 2019
-
?
-
Denmark
-
-
-
-
-
1
LOVD
+?/.
1
c.72C>G
r.(?)
p.(Tyr24*)
Unknown
-
likely pathogenic
g.56553703G>C
-
c.72G>C (p.Y24X)
-
BBS2_000119
-
PubMed: Duelund Hjortshoj-2010
-
-
Germline
-
-
-
-
-
DNA, RNA
DHPLC, arraySNP, RT-PCR
blood
-
retinal disease
-
PubMed: Duelund Hjortshoj-2010
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.72C>G
r.(?)
p.(Tyr24*)
Unknown
-
likely pathogenic
g.56553703G>C
-
c.72G>C (p.Y24X)
-
BBS2_000119
-
PubMed: Duelund Hjortshoj-2010
-
-
Germline
-
-
-
-
-
DNA, RNA
DHPLC, arraySNP, RT-PCR
blood
-
retinal disease
-
PubMed: Duelund Hjortshoj-2010
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.72C>G
r.(?)
p.(Tyr24*)
Unknown
-
likely pathogenic
g.56553703G>C
-
Y24X
-
BBS2_000119
-
PubMed: Eichers-2009
, Beales 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Beales 2003
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
1
c.72C>G
r.(?)
p.(Tyr24*)
Both (homozygous)
-
likely pathogenic
g.56553703G>C
-
Y24X
-
BBS2_000119
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.72C>G
r.(?)
p.(Tyr24*)
Unknown
-
pathogenic
g.56553703G>C
-
c.72C>G(h)
-
BBS2_000119
Family AR724 (A2866) has previously been published for this heterozygous change in BBS2 (p.Q59X) by Katsanis et al. 2001
PubMed: Janssen-2011
-
-
Germline
-
-
-
-
-
DNA
SEQ, HD
-
SEQ or HD
retinal disease
AR724(A2866)-5
PubMed: Janssen-2011
-
-
-
-
Northern-Europe
-
-
-
-
1
LOVD
+/.
1
c.72C>G
r.(?)
p.(Tyr24*)
Unknown
-
pathogenic
g.56553703G>C
-
c.72C>G(h)
-
BBS2_000119
-
PubMed: Janssen-2011
-
-
Germline
-
0.007
-
-
-
DNA
SEQ, HD
-
SEQ or HD
retinal disease
AR850(A2878)-3
PubMed: Janssen-2011
-
-
-
-
Northern-Europe
-
-
-
-
1
LOVD
+/.
1
c.72C>G
r.(?)
p.(Tyr24*)
Unknown
-
pathogenic
g.56553703G>C
-
c.72C>G(h)
-
BBS2_000119
-
PubMed: Janssen-2011
-
-
Germline
-
0.007
-
-
-
DNA
SEQ, HD
-
SEQ or HD
retinal disease
AR850(A2878)-4
PubMed: Janssen-2011
-
-
-
-
Northern-Europe
-
-
-
-
1
LOVD
+?/.
-
c.72C>G
r.(?)
p.(Tyr24*)
Unknown
-
pathogenic (recessive)
g.56553703G>C
g.56519791G>C
BBS2 c.72C>T, p.Tyr24*
-
BBS2_000119
error in annotation, should be C>G; compound heterozygous
PubMed: Delvallee 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
whole-exome sequencing
retinal disease
H.II.1
PubMed: Delvallee 2021
-
-
-
France
-
-
-
-
-
1
LOVD
+?/.
-
c.79A>C
r.(?)
p.(Thr27Pro)
Unknown
ACMG
likely pathogenic
g.56553696T>G
g.56519784T>G
BBS2 NM_031885: g.500A>C, c.79A>C, p.T27P
-
BBS2_000185
-
PubMed: Xu 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
targeted next-generation sequencing
retinal disease
19400
PubMed: Xu 2020
-
?
no
China
-
-
-
-
-
1
LOVD
?/.
1
c.79A>C
r.(?)
p.(Thr27Pro)
Both (homozygous)
ACMG
VUS
g.56553696T>G
g.56519784T>G
BBS2 c.79A > C, p.T27P
-
BBS2_000185
homozygous
PubMed: Meng 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
131 known inherited retinal disease genes
retinal disease
F2-II:1
PubMed: Meng 2021
-
M
yes
China
-
-
-
-
-
1
LOVD
?/.
1
c.79A>C
r.(?)
p.(Thr27Pro)
Both (homozygous)
ACMG
VUS
g.56553696T>G
g.56519784T>G
BBS2 c.79A > C, p.T27P
-
BBS2_000185
homozygous
PubMed: Meng 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
131 known inherited retinal disease genes
retinal disease
F2-II:2
PubMed: Meng 2021
-
F
yes
China
-
-
-
-
-
1
LOVD
+/.
1
c.84delC
r.(?)
p.(Pro29Argfs*50)
Unknown
-
pathogenic
g.56553691delG
-
c.84delC/c.1059dupT
-
BBS2_000204
-
PubMed: Esposito 2017
-
-
Germline
-
-
-
-
-
DNA
arraySNP
blood
BBS-ALMS1 mutation array
retinal disease
P.8
PubMed: Esposito 2017
-
-
-
Italy
-
-
-
-
-
1
LOVD
?/.
-
c.86C>T
r.(?)
p.(Pro29Leu)
Unknown
-
VUS
g.56553689G>A
g.56519777G>A
-
-
BBS2_000109
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs771211831
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
+/.
2
c.98C>A
r.(?)
p.(Ala33Asp)
Unknown
-
pathogenic (recessive)
g.56553677G>T
g.56519765G>T
-
-
BBS2_000095
-
PubMed: Shevach 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
FamMOL0369
PubMed: Shevach 2015
3-generation family, 3 affected (F, 2M), unaffected parents
M
no
Israel
Morocco;Jewish
-
-
-
-
3
Dror Sharon
+/.
-
c.98C>A
r.(?)
p.(Ala33Asp)
Parent #2
-
pathogenic (recessive)
g.56553677G>T
g.56519765G>T
-
-
BBS2_000095
-
PubMed: Shevach 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
FamRD158
PubMed: Shevach 2015
2-generation family, 1 affected, unaffected parents
F
-
Israel
Jewish-Ashkenazi
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.98C>A
r.(?)
p.(Ala33Asp)
Unknown
ACMG
likely pathogenic
g.56553677G>T
-
-
-
BBS2_000095
-
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.98C>A
r.(?)
p.(Ala33Asp)
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.56553677G>T
g.56519765G>T
-
-
BBS2_000095
ACMG PM2, PP3, PP5
PubMed: Marinakis 2021
-
rs797045155
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
9141
PubMed: Marinakis 2021
-
F
-
Greece
-
-
-
-
-
1
Jan Traeger-Synodinos
+?/.
1
c.117G>A
r.(=)
p.(=)
Parent #2
-
likely pathogenic
g.56553658C>T
-
[p.C91W];[p.V707XfsX1]
-
BBS2_000184
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
-
M
-
-
English/Irish/Scottish
-
-
-
-
1
LOVD
+?/.
-
c.117G>A
r.spl
p.(Lys39=)
Both (homozygous)
-
likely pathogenic
g.56553658C>T
g.56519746C>T
BBS2 c.117G>A p.(Lys39;)
-
BBS2_000184
homozygous
PubMed: Méjécase 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
retrospective case note review, targeted gene panel testing
retinal disease
43
{PMID:Méjécase 2020:3278337
-
?
-
United Arab Emirates
-
-
-
-
-
1
LOVD
+?/.
1i
c.117+1G>C
r.spl?
p.?
Unknown
-
likely pathogenic (recessive)
g.56553657C>G
-
IVS1+1G>C (R315Q)
-
BBS2_000141
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
two BBS2 mutations found in unaffected individuals; 3rd allele unmapped
-
-
-
-
-
-
-
-
1
LOVD
+?/.
1i
c.117+1G>C
r.spl?
p.?
Unknown
-
likely pathogenic
g.56553657C>G
-
IVS1+1G>C/R315Q
-
BBS2_000141
-
PubMed: Eichers-2009
, Beales 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Beales 2003
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
1i
c.117+1G>T
r.spl
p.(?)
Unknown
-
likely pathogenic
g.56553657C>A
g.56519745C>A
c.117+1G>T, p.?
-
BBS2_000167
Compound heterozygous
PubMed: Tayebi 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
108-gene panel targeted resequencing using MIPs library prep
retinal disease
066568
PubMed: Tayebi 2019
-
-
-
Iran
-
-
-
-
-
1
LOVD
-?/.
-
c.118-47T>G
r.(=)
p.(=)
Unknown
-
likely benign
g.56548639A>C
-
BBS2(NM_031885.5):c.118-47T>G
-
OGFOD1_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.118G>T
r.(?)
p.(Val40Phe)
Parent #1
-
likely pathogenic
g.56548592C>A
g.56514680C>A
-
-
BBS2_000118
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
616
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
?/.
-
c.143G>A
r.(?)
p.(Arg48Gln)
Parent #1
-
VUS
g.56548567C>T
g.56514655C>T
-
-
BBS2_000115
-
PubMed: Zenteno 2020
-
-
Germline
-
1/143 cases
-
-
-
DNA
SEQ, SEQ-NG
-
199 gene panel
retinal disease
2007
PubMed: Zenteno 2020
family
-
-
Mexico
-
-
-
-
-
1
Johan den Dunnen
./.
-
c.175C>T
r.(?)
p.(Gln59*)
Maternal (confirmed)
-
pathogenic
g.56548535G>A
g.56514623G>A
-
-
BBS2_000036
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
?
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, affected sibling(s)
M
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
2
Johan den Dunnen
+/.
2
c.175C>T
r.(?)
p.(Gln59*)
Unknown
-
pathogenic
g.56548535G>A
-
c.175C>T(h)
-
BBS2_000036
Family AR724 (A2866) has previously been published for this heterozygous change in BBS2 (p.Q59X) by Katsanis et al. 2001
PubMed: Janssen-2011
-
-
Germline
-
0.009
-
-
-
DNA
SEQ, HD
-
SEQ or HD
retinal disease
AR724(A2866)-5
PubMed: Janssen-2011
-
-
-
-
Northern-Europe
-
-
-
-
1
LOVD
+?/.
-
c.175C>T
r.(?)
p.(Gln59*)
Unknown
-
pathogenic (recessive)
g.56548535G>A
g.56514623G>A
BBS2 c.175C>T, p.Gln59*
-
BBS2_000036
compound heterozygous
PubMed: Delvallee 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
blood
whole-exome sequencing
retinal disease
H.II.1
PubMed: Delvallee 2021
-
-
-
France
-
-
-
-
-
1
LOVD
?/.
-
c.184C>G
r.(?)
p.(Leu62Val)
Unknown
-
VUS
g.56548526G>C
-
BBS2(NM_031885.3):c.184C>G (p.L62V)
-
OGFOD1_000029
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.209=
r.(=)
p.(Asn70=)
Unknown
-
benign
g.56548501C>T
g.56514589C>T
BBS2(NM_031885.3):c.209G>A (p.S70N), BBS2(NM_031885.5):c.209G>A (p.S70N)
-
BBS2_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.209=
r.(=)
p.(Asn70=)
Unknown
-
benign
g.56548501C>T
g.56514589C>T
BBS2(NM_031885.3):c.209G>A (p.S70N), BBS2(NM_031885.5):c.209G>A (p.S70N)
-
BBS2_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.209=
r.(=)
p.(Asn70=)
Unknown
-
benign
g.56548501C>T
g.56514589C>T
BBS2(NM_031885.3):c.209G>A (p.S70N), BBS2(NM_031885.5):c.209G>A (p.S70N)
-
BBS2_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.209=
r.(=)
p.(Asn70=)
Unknown
-
benign
g.56548501C>T
g.56514589C>T
BBS2(NM_031885.3):c.209G>A (p.S70N), BBS2(NM_031885.5):c.209G>A (p.S70N)
-
BBS2_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.209A>G
r.(?)
p.(Asn70Ser)
Parent #1
-
likely pathogenic
g.56548501T>C
-
-
-
BBS2_000114
-
PubMed: Holtan 2020
-
-
Germline
-
1/899 cases
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Holtan 2020
1 patient with variant in heterozygous or compound heterozygous form
-
-
Norway
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
-
c.209A>G
r.(?)
p.(Asn70Ser)
Both (homozygous)
-
likely pathogenic (recessive)
g.56548501T>C
-
-
-
BBS2_000114
-
PubMed: Holtan 2020
-
-
Germline
-
1/899 cases
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Holtan 2020
1 homozygous patient
-
-
Norway
-
-
-
-
-
1
Global Variome, with Curator vacancy
+?/.
2
c.209A>G
r.(?)
p.(Asn70Ser)
Unknown
-
likely pathogenic (recessive)
g.56548501T>C
-
N70S
-
BBS2_000114
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
2
c.209A>G
r.(?)
p.(Asn70Ser)
Unknown
-
likely pathogenic
g.56548501T>C
-
N70S
-
BBS2_000114
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Katsanis 2002
-
-
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.209G>A
r.(?)
p.(Ser70Asn)
Unknown
-
VUS
g.56548501C>T
-
-
-
BBS2_000084
Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs4784677
Germline
-
1/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1
Yoshito Koyanagi
?/.
-
c.209G>A
r.(?)
p.(Ser70Asn)
Both (homozygous)
-
VUS
g.56548501C>T
-
-
-
BBS2_000084
Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message.
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
-
rs4784677
Germline
-
1203/1204 cases with retinitis pigmentosa
-
-
-
DNA
SEQ-NG
-
-
retinal disease
-
PubMed: Koyanagi 2019
,
Journal: Koyanagi 2019
analysis 1204 retinitis pigmentosa cases
-
-
Japan
-
-
-
-
-
1203
Yoshito Koyanagi
+?/.
2
c.209G>A
r.(?)
p.(Ser70Asn)
Both (homozygous)
-
likely pathogenic
g.56548501C>T
-
c.209G>A
-
BBS2_000084
Disease associated polymorphisms
PubMed: Sathya Priya-2015
-
-
Germline
yes
-
-
-
-
DNA, RNA
arraySNP, PCR
blood
-
retinal disease
-
PubMed: Sathya Priya-2015
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.224T>G
r.(?)
p.(Val75Gly)
Unknown
ACMG
pathogenic
g.56548486A>C
-
-
-
BBS2_000113
-
PubMed: Sharon 2019
-
-
Germline
-
3/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
3 IRD families
-
-
Israel
-
-
-
-
-
3
Global Variome, with Curator vacancy
+?/.
2
c.224T>G
r.(?)
p.(Val75Gly)
Both (homozygous)
-
likely pathogenic
g.56548486A>C
g.56514574A>C
c.224T>G, p.(Val75Gly)
-
BBS2_000113
Homozygous
PubMed: Tayebi 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
108-gene panel targeted resequencing using MIPs library prep
retinal disease
066574
PubMed: Tayebi 2019
-
-
-
Iran
-
-
-
-
-
1
LOVD
+/.
2
c.225T>G
r.(?)
p.V75G)
Both (homozygous)
-
pathogenic
g.56548485A>C
-
c.225T>G/c.225T>G (p.V75G)
-
BBS2_000203
-
PubMed: Esposito 2017
-
-
Germline
-
-
-
-
-
DNA
arraySNP
blood
BBS-ALMS1 mutation array
retinal disease
P.9
PubMed: Esposito 2017
-
-
-
Italy
-
-
-
-
-
1
LOVD
+?/.
-
c.235A>C
r.(?)
p.(Thr79Pro)
Paternal (confirmed)
-
likely pathogenic
g.56548475T>G
g.56514563T>G
BBS2 c.235T>G, p.(T79P)
-
BBS2_000209
heterozygous
PubMed: Huang 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
IV:10
PubMed: Huang 2021
Family A, proband
M
no
China
-
-
-
-
-
1
LOVD
+?/.
-
c.235A>C
r.(?)
p.(Thr79Pro)
Paternal (confirmed)
-
likely pathogenic
g.56548475T>G
g.56514563T>G
BBS2 c.235T>G, p.(T79P)
-
BBS2_000209
heterozygous
PubMed: Huang 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
IV:1
PubMed: Huang 2021
Family A, proband
F
no
China
-
-
-
-
-
1
LOVD
+?/.
-
c.235A>C
r.(?)
p.(Thr79Pro)
Paternal (confirmed)
-
likely pathogenic
g.56548475T>G
g.56514563T>G
BBS2 c.235T>G, p.(T79P)
-
BBS2_000209
heterozygous
PubMed: Huang 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
IV:2
PubMed: Huang 2021
Family A, proband
F
no
China
-
-
-
-
-
1
LOVD
+?/.
-
c.235A>C
r.(?)
p.(Thr79Pro)
Paternal (confirmed)
-
likely pathogenic
g.56548475T>G
g.56514563T>G
BBS2 c.235T>G, p.(T79P)
-
BBS2_000209
heterozygous
PubMed: Huang 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
whole exome sequencing
retinal disease
IV:3
PubMed: Huang 2021
Family A, proband
F
no
China
-
-
-
-
-
1
LOVD
10 per page
25 per page
50 per page
100 per page
Legend
How to query
« First
Prev
1
2
3
4
5
Next
Last »
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our
APIs
to retrieve data.
Powered by
LOVD v.3.0
Build 30b
LOVD software ©2004-2024
Leiden University Medical Center
Database contents © by their respective submitters and curators