Global Variome shared LOVD
BBS4 (Bardet-Biedl syndrome 4)
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_033028.4 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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249 entries on 3 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
+?/.
-
c.‐2274_24+930d
r.0?
p.0?
Both (homozygous)
ACMG
likely pathogenic
g.72976295_72979522del
g.72683954_72687181del
BBS4 c.‐2274_23 + 93
-
BBS4_000105
homozygous, error in annotation, should be c.-2274_24+930del, 23 is not an intron boundary
PubMed: Dineiro 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I, SEQ
blood, saliva
targeted sequencing with 1 of 4 panels of OFTALMOgenics probes
retinal disease
OFTALMO.041
PubMed: Dineiro 2020
-
?
-
Spain
-
-
-
-
-
1
LOVD
-/.
-
c.-38C>A
r.(?)
p.(=)
Unknown
-
benign
g.72978531C>A
g.72686190C>A
-
-
BBS4_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-17C>T
r.(?)
p.(=)
Unknown
-
benign
g.72978552C>T
g.72686211C>T
BBS4(NM_033028.4):c.-17C>T
-
BBS4_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-17C>T
r.(?)
p.(=)
Unknown
-
benign
g.72978552C>T
g.72686211C>T
BBS4(NM_033028.4):c.-17C>T
-
BBS4_000003
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c..(76+1_77-1)_(220+1_221-1)del
r.?
p.(Pro27_Ala74del)
Both (homozygous)
ACMG
pathogenic (recessive)
g.(72987570_73002040)_(73004649_73007631)del
g.(72695229_72709699)_(72712308_72715290)del
g.73002041_73004648del
-
BBS4_000030
-
PubMed: Hu 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
ID
M8700050
PubMed: Hu 2019
family, 2 affected individuals, second cousin parents
-
yes
Iran
Persia
-
-
-
-
2
Johan den Dunnen
+/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.?
-
c.[(157-?)_(405+?)del];[(157-?)_(405+?)del]
-
IGF1R_000000
-
PubMed: Redin-2012
-
-
Germline
yes
-
-
-
-
DNA
arrayCNV, SEQ
blood
-
retinal disease
-
PubMed: Redin-2012
-
-
-
Tunisia
-
-
-
-
-
1
LOVD
?/.
-
c.?
r.(?)
p.?
Unknown
-
VUS
g.?
-
[p.L114WfsX28]
-
IGF1R_000000
-
PubMed: Imhoff-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Imhoff-2011
additional mutation
-
-
-
Italian
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.?
-
M390R/M390R
-
IGF1R_000000
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
-
F
-
-
white
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.(Glu136Valfs*27)
Both (homozygous)
-
likely pathogenic
g.?
-
p.Glu136Valfs*27
-
IGF1R_000000
-
PubMed: Knopp 2015
-
-
Germline
-
-
-
-
-
DNA
arraySNP, SEQ-NG, PCR
blood
-
retinal disease
-
PubMed: Knopp 2015
-
M
yes
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.0?
p.0?
Both (homozygous)
ACMG
likely pathogenic
g.72978159_72978592del
g.72685818_72686251del
BBS4, arr([GRCh37] 15q24.1(72685818-72686251)x0), arr([GRCh37] 15q24.1(72,685,818-72,686,251)x0), homozygous
-
IGF1R_000000
error in annotation, GRCh37 in this locus has only repetitive elements; BBS4 gene is partially deleted in GRCh38, homozygous
PubMed: Perea-Romero 2021
-
-
Unknown
?
-
-
-
-
DNA
?
-
clinical exome sequencing
retinal disease
RP-1325
PubMed: Perea-Romero 2021
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.10G>T
r.(?)
p.(Glu4Ter)
Unknown
-
likely pathogenic
g.72978578G>T
g.72686237G>T
BBS4(NM_033028.5):c.10G>T (p.E4*)
-
BBS4_000037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.24+8C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.72978600C>T
g.72686259C>T
BBS4(NM_001252678.1):c.-446+8C>T (p.(=))
-
BBS4_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.24+40C>T
r.(=)
p.(=)
Unknown
-
likely pathogenic
g.72978632C>T
-
-
-
BBS4_000132
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.25-5T>C
r.spl?
p.?
Unknown
-
pathogenic
g.72987513T>C
g.72695172T>C
-
-
BBS4_000028
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.31C>T
r.(?)
p.(Gln11*)
Maternal (confirmed)
ACMG
pathogenic
g.72987524C>T
g.72695183C>T
BBS4 c.31C > T, p.Q11*
-
BBS4_000111
heterozygous
PubMed: Meng 2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
131 known inherited retinal disease genes
retinal disease
F6-II:1
PubMed: Meng 2021
-
F
no
China
-
-
-
-
-
1
LOVD
+?/.
-
c.70A>T
r.(?)
p.(Lys24*)
Both (homozygous)
-
likely pathogenic
g.72987563A>T
g.72695222A>T
BBS4 c.70A>T, p.K24X
-
BBS4_000118
homozygous; heterozygous proband's father also reported a surgical history of polydactyly removal, but her brother, carrying the same alleles appeared completel
PubMed: Li 2014
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ-NG, SEQ
blood
whole exome capture sequencing
BBS
?
PubMed: Li 2014
Chinese Han family, proband
F
yes
China
Chinese Han
-
-
-
-
1
LOVD
+/.
2i
c.76+1G>T
r.spl?
p.?
Parent #1
-
pathogenic (recessive)
g.72987570G>T
-
c.[76+1G>T];[657delG]
-
BBS4_000114
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Mary 2019
Fetus ultra sound at 20 gestation weeks
M
-
France
-
-
-
-
-
1
LOVD
+/.
2i
c.76+1G>T
r.spl?
p.?
Parent #1
-
pathogenic (recessive)
g.72987570G>T
-
c.[76+1G>T];[657delG]
-
BBS4_000114
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Mary 2019
Fetus: term at 22 gestation weeks
F
-
France
-
-
-
-
-
1
LOVD
-/.
-
c.76+19G>T
r.(=)
p.(=)
Unknown
-
benign
g.72987588G>T
g.72695247G>T
BBS4(NM_033028.4):c.76+19G>T, BBS4(NM_033028.5):c.76+19G>T
-
BBS4_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.76+19G>T
r.(=)
p.(=)
Unknown
-
benign
g.72987588G>T
g.72695247G>T
BBS4(NM_033028.4):c.76+19G>T, BBS4(NM_033028.5):c.76+19G>T
-
BBS4_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.76+19G>T
r.(=)
p.(=)
Unknown
-
benign
g.72987588G>T
g.72695247G>T
BBS4(NM_033028.4):c.76+19G>T, BBS4(NM_033028.5):c.76+19G>T
-
BBS4_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.76+2864T>C
r.(=)
p.(=)
Unknown
-
VUS
g.72990433T>C
-
BBS4(NM_033028.5):c.76+2864T>C
-
BBS4_000134
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.77-5436G>A
r.(=)
p.(=)
Unknown
-
benign
g.72996605G>A
g.72704264G>A
BBS4(NM_033028.4):c.77-5436G>A
-
BBS4_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.77-5226A>G
r.(=)
p.(=)
Unknown
-
benign
g.72996815A>G
g.72704474A>G
BBS4(NM_033028.4):c.77-5226A>G
-
BBS4_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.77-1476_406-309del
r.(?)
p.(Ala26Glyfs*5)
Unknown
ACMG
pathogenic
g.73000565_73014826del
-
-
-
BBS4_000058
-
PubMed: Sharon 2019
-
-
Germline
-
2/2420 IRD families
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Sharon 2019
2 IRD families
-
-
Israel
-
-
-
-
-
2
Global Variome, with Curator vacancy
+/.
-
c.77-1454_221-786del
r.(?)
p.(Pro27_Ala74del)
Both (homozygous)
-
pathogenic
g.73000587_73006846del
-
del exon3_4 73000565-73006826del
-
BBS4_000066
6,261 bp deletion, AluSc8 - AluSx
PubMed: Lindstrand 2016
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, PCRlr, SEQ-NG
-
-
BBS
32/3
PubMed: Lindstrand 2016
-
M
no
United States
-
-
-
-
-
1
LOVD
-/.
-
c.77-6G>A
r.(=)
p.(=)
Unknown
-
benign
g.73002035G>A
g.72709694G>A
BBS4(NM_033028.4):c.77-6G>A, BBS4(NM_033028.5):c.77-6G>A
-
BBS4_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.77-6G>A
r.(=)
p.(=)
Unknown
-
benign
g.73002035G>A
g.72709694G>A
BBS4(NM_033028.4):c.77-6G>A, BBS4(NM_033028.5):c.77-6G>A
-
BBS4_000008
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.77-6G>A
r.(=)
p.(=)
Parent #1
-
likely benign
g.73002035G>A
-
-
-
BBS4_000008
expression cloning mini-gene splicing assay shows no effect on splicing
PubMed: Alvarez-Satta 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
RP1032
PubMed: Alvarez-Satta-2014
,
PubMed: Castro Sanchez 2015
2-generation family, 2 affected (brother/sister)
F
-
Saudi Arabia
Arab
-
-
-
-
2
LOVD
+/.
2i_4i
c.(76+1_77-1)_(220+1_221-1)del
r.?
p.?
Both (homozygous)
-
pathogenic
g.(72987570_73002040)_(73004649_73007631)del
-
ex 3-4del
-
BBS4_000030
-
Sharon, submitted
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
BBS
-
Sharon, submitted
-
M
yes
Israel
Arab-Muslim
-
-
-
-
1
Dror Sharon
+/.
10
c.(76+1_77-1)_(220+1_221-1)del
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.(72987570_73002040)_(73004649_73007631)del
g.(72695229_72709699)_(72712308_72715290)del
BBS4 exon 3 and 4 6 kb deletion
-
BBS4_000030
homozygous
PubMed: Mykytyn 2001
-
-
Germline
yes
-
-
-
-
DNA
STR, SSCA, SEQ
blood
-
BBS
?
PubMed: Mykytyn 2001
Italian consanguineous BBS family, described in
PubMed: Carmi 1995
M
yes
-
Italian
-
-
-
-
1
LOVD
+/.
10
c.(76+1_77-1)_(220+1_221-1)del
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.(72987570_73002040)_(73004649_73007631)del
g.(72695229_72709699)_(72712308_72715290)del
BBS4 exon 3 and 4 6 kb deletion
-
BBS4_000030
homozygous
PubMed: Mykytyn 2001
-
-
Germline
yes
-
-
-
-
DNA
STR, SSCA, SEQ
blood
-
BBS
?
PubMed: Mykytyn 2001
Italian consanguineous BBS family, described in
PubMed: Carmi 1995
F
yes
-
Italian
-
-
-
-
1
LOVD
+/.
10
c.(76+1_77-1)_(220+1_221-1)del
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.(72987570_73002040)_(73004649_73007631)del
g.(72695229_72709699)_(72712308_72715290)del
BBS4 exon 3 and 4 6 kb deletion
-
BBS4_000030
homozygous
PubMed: Mykytyn 2001
-
-
Germline
yes
-
-
-
-
DNA
STR, SSCA, SEQ
blood
-
BBS
?
PubMed: Mykytyn 2001
Italian consanguineous BBS family, described in
PubMed: Carmi 1995
M
yes
-
Italian
-
-
-
-
1
LOVD
+/.
10
c.(76+1_77-1)_(220+1_221-1)del
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.(72987570_73002040)_(73004649_73007631)del
g.(72695229_72709699)_(72712308_72715290)del
BBS4 exon 3 and 4 6 kb deletion
-
BBS4_000030
homozygous
PubMed: Mykytyn 2001
-
-
Germline
yes
-
-
-
-
DNA
STR, SSCA, SEQ
blood
-
BBS
?
PubMed: Mykytyn 2001
Italian consanguineous BBS family, described in
PubMed: Carmi 1995
M
yes
-
Italian
-
-
-
-
1
LOVD
+/.
10
c.(76+1_77-1)_(220+1_221-1)del
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.(72987570_73002040)_(73004649_73007631)del
g.(72695229_72709699)_(72712308_72715290)del
BBS4 exon 3 and 4 6 kb deletion
-
BBS4_000030
homozygous
PubMed: Mykytyn 2001
-
-
Germline
yes
-
-
-
-
DNA
STR, SSCA, SEQ
blood
-
BBS
?
PubMed: Mykytyn 2001
Israeli Arab consanguineous BBS family
M
yes
Israel
Arab
-
-
-
-
1
LOVD
+/.
10
c.(76+1_77-1)_(220+1_221-1)del
r.(?)
p.?
Both (homozygous)
-
pathogenic
g.(72987570_73002040)_(73004649_73007631)del
g.(72695229_72709699)_(72712308_72715290)del
BBS4 exon 3 and 4 6 kb deletion
-
BBS4_000030
homozygous
PubMed: Mykytyn 2001
-
-
Germline
yes
-
-
-
-
DNA
STR, SSCA, SEQ
blood
-
BBS
?
PubMed: Mykytyn 2001
Israeli Arab consanguineous BBS family
-
yes
Israel
Arab
-
-
-
-
1
LOVD
+?/.
3
c.77_156dup
r.(?)
p.(Ala53Leufs*13)
Both (homozygous)
-
likely pathogenic
g.73002041_73002120dup
-
exon3dup
-
BBS4_000094
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Feuillan-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
3
c.77_156dup
r.(?)
p.(Ala53Leufs*13)
Both (homozygous)
-
likely pathogenic
g.73002041_73002120dup
-
exon3dup
-
BBS4_000094
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Feuillan-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
3
c.77_156dup
r.(?)
p.(Ala53Leufs*13)
Both (homozygous)
-
likely pathogenic
g.73002041_73002120dup
-
exon3dup
-
BBS4_000094
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Feuillan-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
3_4
c.77_220del
r.(?)
p.(Pro27_Ala74del)
Both (homozygous)
-
pathogenic
g.73002041_73004648del
-
c.77_220del
-
BBS4_000102
-
PubMed: Fattahi 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Fattahi-2014
-
-
yes
-
Fars
-
-
-
-
1
LOVD
+?/.
-
c.129T>G
r.(?)
p.(Tyr43*)
Parent #1
-
likely pathogenic
g.73002093T>G
g.72709752T>G
BBS4, variant 1: c.129T>G/p.Y43*, variant 2: c.883C>T/p.R295*
-
BBS4_000108
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG
blood
RET7 targeted sequencing panel - see paper
retinal disease
115
PubMed: Weisschuh 2020
Filing key number: 52, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
-
c.129T>G
r.(?)
p.(Tyr43*)
Unknown
-
pathogenic
g.73002093T>G
-
BBS4(NM_033028.5):c.129T>G (p.(Tyr43*))
-
BBS4_000108
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.137A>G
r.(?)
p.(Lys46Arg)
Unknown
-
likely benign
g.73002101A>G
g.72709760A>G
BBS4(NM_033028.4):c.137A>G (p.K46R), BBS4(NM_033028.5):c.137A>G (p.K46R)
-
BBS4_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.137A>G
r.(?)
p.(Lys46Arg)
Unknown
-
likely benign
g.73002101A>G
g.72709760A>G
BBS4(NM_033028.4):c.137A>G (p.K46R), BBS4(NM_033028.5):c.137A>G (p.K46R)
-
BBS4_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.137A>G
r.(?)
p.(Lys46Arg)
Parent #1
-
VUS
g.73002101A>G
g.72709760A>G
-
-
BBS4_000009
conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs75295839
Germline
-
8/2791 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
8
Mohammed Faruq
?/.
-
c.137A>G
r.(?)
p.(Lys46Arg)
Maternal (confirmed)
-
VUS
g.73002101A>G
g.72709760A>G
-
-
BBS4_000009
-
PubMed: Lindstrand 2016
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, PCRlr, SEQ-NG
-
-
BBS
AR634-03
PubMed: Lindstrand 2016
-
F
no
United States
-
-
-
-
-
1
LOVD
-?/.
3
c.137A>G
r.(?)
p.(Lys46Arg)
Unknown
-
likely benign (recessive)
g.73002101A>G
-
p.Lys46Arg
-
BBS4_000009
-
PubMed: Anasagasti-2013
-
rs75295839
Germline
yes
<0.01
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
3
c.137A>G
r.(?)
p.(Lys46Arg)
Both (homozygous)
-
likely pathogenic
g.73002101A>G
-
c.137A>G
-
BBS4_000009
-
PubMed: Muller-2010
,
PubMed: Stoetzel 2006
-
-
Germline
-
-
-
-
-
DNA
microsat, SEQ
blood
-
retinal disease
-
PubMed: Muller-2010
,
PubMed: Stoetzel 2006
-
-
-
-
white
-
-
-
-
1
LOVD
?/.
3
c.137A>G
r.(?)
p.(Lys46Arg)
Unknown
-
VUS
g.73002101A>G
-
[p.N90S]
-
BBS4_000009
normal 2nd chromosome
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
No principal mutations.
M
-
-
Jamaican/Trinidadian
-
-
-
-
1
LOVD
-?/.
-
c.137A>G
r.(?)
p.(Lys46Arg)
Unknown
-
likely benign
g.73002101A>G
-
BBS4(NM_033028.4):c.137A>G (p.K46R), BBS4(NM_033028.5):c.137A>G (p.K46R)
-
BBS4_000009
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
3
c.147A>G
r.(=)
p.(=)
Unknown
-
benign
g.73002111A>G
-
147A>G
-
BBS4_000082
-
PubMed: Fauser-2003
, Mykytyn 2003
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Fauser-2003
-
-
no
-
European
-
-
-
-
1
LOVD
+?/.
3
c.147A>G
r.(=)
p.(=)
Unknown
-
likely pathogenic
g.73002111A>G
-
K46R
-
BBS4_000082
-
PubMed: Eichers-2009
, Fauser 2003
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Fauser 2003
-
-
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.157-19A>G
r.(=)
p.(=)
Unknown
-
likely benign
g.73004566A>G
g.72712225A>G
BBS4(NM_033028.4):c.157-19A>G
-
BBS4_000010
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.157-3C>G
r.spl
p.?
Both (homozygous)
-
pathogenic (recessive)
g.73004582C>G
g.72712241C>G
-
-
BBS4_000056
-
PubMed: Makrythanasis 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
?
Family_30
PubMed: Makrythanasis 2014
family, 3 affected
-
yes
Iraq
-
-
-
-
-
3
Johan den Dunnen
+/.
3i
c.157-3C>G
r.spl?
p.?
Both (homozygous)
-
pathogenic
g.73004582C>G
-
IVS3-3c/g
-
BBS4_000056
-
PubMed: Harville-2010
-
-
Germline
-
0/90 ethnically matched controls
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Harville-2010
-
-
yes
Turkey
-
-
-
-
-
1
LOVD
+?/.
3i
c.157-3C>G
r.spl?
p.?
Parent #2
-
likely pathogenic
g.73004582C>G
-
[p.C91LfsX5];[p.V230FfsX7]
-
BBS4_000056
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
-
F
-
-
Polish
-
-
-
-
1
LOVD
+?/.
3i
c.157-3C>G
r.spl?
p.?
Parent #2
-
likely pathogenic
g.73004582C>G
-
[p.C91LfsX5];[p.Y559X]
-
BBS4_000056
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
-
M
-
-
Irish
-
-
-
-
1
LOVD
+?/.
-
c.157-3C>G
r.spl?
p.(?)
Parent #1
-
likely pathogenic
g.73004582C>G
g.72712241C>G
BBS4, variant 1: c.157-3C>G/p.?, variant 2: c.157-3C>G/p.?
-
BBS4_000056
solved, homozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET7 targeted sequencing panel - see paper
retinal disease
122
PubMed: Weisschuh 2020
Filing key number: 55, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
1
LOVD
+/.
3i
c.157-3C>G
r.spl?
p.?
Parent #1
-
pathogenic (recessive)
g.73004582C>G
-
c.[157-3C>G];[157-3C>G]
-
BBS4_000056
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Mary 2019
Fetus: term at 26+4 gestation weeks
M
-
France
-
-
-
-
-
1
LOVD
+/.
3i
c.157-3C>G
r.spl?
p.?
Parent #2
-
pathogenic (recessive)
g.73004582C>G
-
c.[157-3C>G];[157-3C>G]
-
BBS4_000056
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Mary 2019
Fetus: term at 26+4 gestation weeks
M
-
France
-
-
-
-
-
1
LOVD
+/.
-
c.157-2A>G
r.spl?
p.?
Both (homozygous)
ACMG
pathogenic
g.73004583A>G
g.72712242A>G
-
-
BBS4_000002
-
PubMed: Trujillano 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
BBS4
-
PubMed: Trujillano 2017
unaffected parents
-
-
-
-
-
-
-
-
1
Daniel Trujillano
+/.
-
c.157-2A>G
r.spl?
p.?
Unknown
-
pathogenic
g.73004583A>G
-
BBS4(NM_033028.5):c.157-2A>G
-
BBS4_000002
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.157-2A>G
r.spl
p.?
Unknown
-
likely pathogenic
g.73004583A>G
g.72712242A>G
-
-
BBS4_000002
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
13DG1032
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+/.
3i
c.157-2A>G
r.spl?
p.?
Both (homozygous)
-
pathogenic
g.73004583A>G
-
IVS3-2a/g
-
BBS4_000002
-
PubMed: Harville-2010
-
-
Germline
-
0/90 ethnically matched controls
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Harville-2010
-
-
yes
United Arab Emirates
-
-
-
-
-
1
LOVD
?/.
3i
c.157-2A>G
r.spl?
p.?
Both (homozygous)
-
VUS
g.73004583A>G
-
c.157-2A>G
-
BBS4_000002
-
PubMed: Abu-Safieh-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
autozygome-guided sequencing
retinal disease
-
PubMed: Abu-Safieh-2013
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
3i
c.157-2A>G
r.157_220del
p.?
Both (homozygous)
-
likely pathogenic
g.73004583A>G
-
c.157-2A>G r.157_220del p.(A53Hfs*2)
-
BBS4_000002
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
DNA, RNA
arraySNP, SEQ, RT-PCR
blood
-
retinal disease
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
yes
Saudi Arabia
Arab
-
-
-
-
1
LOVD
+?/.
3i
c.157-2A>G
r.157_220del
p.?
Both (homozygous)
-
likely pathogenic
g.73004583A>G
-
c.157-2A>G r.157_220del p.(A53Hfs*2)
-
BBS4_000002
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
DNA, RNA
arraySNP, SEQ, RT-PCR
blood
-
retinal disease
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
yes
Saudi Arabia
Arab
-
-
-
-
1
LOVD
+?/.
3i
c.157-2A>G
r.157_220del
p.?
Both (homozygous)
-
likely pathogenic
g.73004583A>G
-
c.157-2A>G r.157_220del p.(A53Hfs*2)
-
BBS4_000002
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
DNA, RNA
arraySNP, SEQ, RT-PCR
blood
-
retinal disease
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
yes
Saudi Arabia
Arab
-
-
-
-
1
LOVD
+?/.
3i
c.157-2A>G
r.157_220del
p.?
Both (homozygous)
-
likely pathogenic
g.73004583A>G
-
c.157-2A>G r.157_220del p.(A53Hfs*2)
-
BBS4_000002
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
DNA, RNA
arraySNP, SEQ, RT-PCR
blood
-
retinal disease
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
yes
Saudi Arabia
Arab
-
-
-
-
1
LOVD
+?/.
3i
c.157-2A>G
r.157_220del
p.?
Both (homozygous)
-
likely pathogenic
g.73004583A>G
-
c.157-2A>G r.157_220del p.(A53Hfs*2)
-
BBS4_000002
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
DNA, RNA
arraySNP, SEQ, RT-PCR
blood
-
retinal disease
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
1 unaffected siblings screened
-
yes
Saudi Arabia
Arab
-
-
-
-
1
LOVD
+?/.
3i
c.157-2A>G
r.157_220del
p.?
Both (homozygous)
-
likely pathogenic
g.73004583A>G
-
c.157-2A>G r.157_220del p.(A53Hfs*2)
-
BBS4_000002
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
DNA, RNA
arraySNP, SEQ, RT-PCR
blood
-
retinal disease
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
1 unaffected siblings screened
-
yes
Saudi Arabia
Arab
-
-
-
-
1
LOVD
+?/.
3i
c.157-2A>G
r.157_220del
p.?
Both (homozygous)
-
likely pathogenic
g.73004583A>G
-
c.157-2A>G r.157_220del p.(A53Hfs*2)
-
BBS4_000002
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
DNA, RNA
arraySNP, SEQ, RT-PCR
blood
-
retinal disease
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
yes
Saudi Arabia
Arab
-
-
-
-
1
LOVD
+?/.
3i
c.157-2A>G
r.157_220del
p.?
Both (homozygous)
-
likely pathogenic
g.73004583A>G
-
c.157-2A>G r.157_220del p.(A53Hfs*2)
-
BBS4_000002
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
DNA, RNA
arraySNP, SEQ, RT-PCR
blood
-
retinal disease
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
1 unaffected siblings screened
-
yes
Saudi Arabia
Arab
-
-
-
-
1
LOVD
+/.
3i
c.157-2A>G
r.spl?
p.?
Both (homozygous)
-
pathogenic
g.73004583A>G
-
c.IVS3-2A>G(H)
-
BBS4_000002
-
PubMed: Janssen-2011
-
-
Germline
-
0.017
-
-
-
DNA
SEQ, HD
-
SEQ or HD
retinal disease
KK44(A2884)-8
PubMed: Janssen-2011
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+/.
-
c.157-2A>G
r.spl
p.?
Both (homozygous)
-
pathogenic
g.73004583A>G
g.72712242A>G
BBS4 IVS3-2A>G
-
BBS4_000002
no nucleotide annotation, extrapolated from protein, sequence and databases; homozygous
PubMed: Katsanis 2002
-
-
Germline
yes
0/108 ethnically matched control chromosomes
-
-
-
DNA
STR, SEQ
blood
-
BBS
KK021
PubMed: Katsanis 2002
family KK021
-
-
-
Saudi Arabian
-
-
-
-
1
LOVD
+/.
3i_4i
c.157-1_220+1del
r.spl?
p.?
Parent #1
-
pathogenic (recessive)
g.73004584_73004649del
-
c.[157-?_220+?del];[157-?_220+?del]
-
BBS4_000115
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Mary 2019
Fetus ultra sound at 14 gestation weeks
?
-
France
-
-
-
-
-
1
LOVD
+/.
3i_4i
c.157-1_220+1del
r.spl?
p.?
Parent #2
-
pathogenic (recessive)
g.73004584_73004649del
-
c.[157-?_220+?del];[157-?_220+?del]
-
BBS4_000115
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Mary 2019
Fetus ultra sound at 14 gestation weeks
?
-
France
-
-
-
-
-
1
LOVD
+/.
3i_4i
c.157-1_220+1del
r.spl?
p.?
Parent #1
-
pathogenic (recessive)
g.73004584_73004649del
-
c.[157-?_220+?del];[157-?_220+?del]
-
BBS4_000115
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Mary 2019
Fetus: term at 20 gestation weeks
?
-
France
-
-
-
-
-
1
LOVD
+/.
3i_4i
c.157-1_220+1del
r.spl?
p.?
Parent #2
-
pathogenic (recessive)
g.73004584_73004649del
-
c.[157-?_220+?del];[157-?_220+?del]
-
BBS4_000115
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Mary 2019
Fetus: term at 20 gestation weeks
?
-
France
-
-
-
-
-
1
LOVD
+/.
3i_6i
c.(156+1_157-1)_(405+1_406-1)del
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.(73002121_73004584)_(73009192_73015134)del
g.(72709780_72712243)_(72716851_72722793)del
del ex4-6
-
BBS4_000136
-
PubMed: Retterer 2016
-
-
Germline
-
-
-
-
-
DNA
arrayCGH
-
-
?
TabS5-var3
PubMed: Retterer 2016
2-generation family, unaffected heterozygous carrier parents; analysis proband (1/3040); possible combination of variants not reported
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
3i_6i
c.(?_157-1)_(405+1)del
r.spl?
p.?
Both (homozygous)
-
pathogenic
g.73004584_73009192del
-
Del exon 4+5+6
-
BBS4_000073
-
PubMed: Muller-2010
-
-
Germline
-
-
-
-
-
DNA
microsat, SEQ
blood
-
retinal disease
-
PubMed: Muller-2010
-
-
-
-
Algeria
-
-
-
-
4
LOVD
+/.
3i_6i
c.(?_157-1)_(405+1_?)del
r.spl?
p.?
Both (homozygous)
-
pathogenic
g.73004584_73009192del
-
Deletion Ex4-5-6
-
BBS4_000073
-
PubMed: M'hamdi 2014
-
-
Unknown
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: M'hamdi_2014
-
F
yes
Tunisia
Tunisian
-
-
-
-
1
LOVD
+?/.
3i_6i
c.157-1_405+1del
r.spl?
p.?
Unknown
-
likely pathogenic
g.73004584_73009192del
-
deletionexons4,5,6
-
BBS4_000073
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Feuillan-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
3i_6i
c.157-1_405+1del
r.spl?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.73004584_73009192del
-
DelEx4-5-6
-
BBS4_000073
-
PubMed: M'hamdi-2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
targeted exon capture strategy
retinal disease
-
PubMed: M'hamdi-2014
-
F
yes
Tunisia
Tunisian
-
-
-
-
1
LOVD
-?/.
-
c.180A>G
r.(?)
p.(Gln60=)
Unknown
-
likely benign
g.73004608A>G
g.72712267A>G
BBS4(NM_033028.4):c.180A>G (p.Q60=)
-
BBS4_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.180A>G
r.(?)
p.(Gln60=)
Unknown
-
likely benign
g.73004608A>G
-
BBS4(NM_033028.4):c.180A>G (p.Q60=)
-
BBS4_000011
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
4
c.181G>A
r.(?)
p.(Glu61Lys)
Unknown
-
VUS
g.73004609G>A
-
[E61K]+[=]
-
BBS4_000095
normal 2nd chromosome
PubMed: Billingsley-2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Billingsley-2010
-
F
-
-
Canadian Native Indian (Dene)
-
-
-
-
1
LOVD
?/.
4
c.181G>A
r.(?)
p.(Glu61Lys)
Unknown
-
VUS
g.73004609G>A
-
[E61K]+[=]
-
BBS4_000095
normal 2nd chromosome
PubMed: Billingsley-2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Billingsley-2010
-
-
-
-
Canadian Native Indian (Dene)
-
-
-
-
1
LOVD
+?/.
4
c.181G>A
r.(?)
p.(Glu61Lys)
Parent #1
-
likely pathogenic
g.73004609G>A
-
[p.Q293E];[p.F372XfsX1]
-
BBS4_000095
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
novel
-
-
-
white
-
-
-
-
1
LOVD
+?/.
4
c.181G>A
r.(?)
p.(Glu61Lys)
Maternal (inferred)
-
likely pathogenic
g.73004609G>A
-
(c.1115_1116delTT; p.Phe372X)
-
BBS4_000095
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ
-
-
retinal disease
-
PubMed: Deveault-2011
-
F
-
-
white
-
-
-
-
1
LOVD
+?/.
4
c.218A>G
r.(?)
p.(Gln73Arg)
Unknown
-
likely pathogenic
g.73004646A>G
-
c.218A>G(h)
-
BBS4_000101
unknown variant 2nd chromosome
PubMed: Janssen-2011
-
-
Germline
-
2.3% ; absent in 96 controls
-
-
-
DNA
HD
-
-
retinal disease
AR348(A2848)-03
PubMed: Janssen-2011
-
-
-
-
Northern-Europe
-
-
-
-
1
LOVD
+/.
10
c.220+1G>C
r.spl
p.?
Both (homozygous)
-
pathogenic
g.73004649G>C
g.72712308G>C
BBS4 c.220+1G>C
-
BBS4_000119
homozygous
PubMed: Mykytyn 2001
-
-
Germline
yes
-
-
-
-
DNA
STR, SSCA, SEQ
blood
-
BBS
?
PubMed: Mykytyn 2001
-
?
yes
-
European
-
-
-
-
1
LOVD
+/.
-
c.221-1062_406-847del
r.(?)
p.(Ala74Glyfs*5)
Both (homozygous)
-
pathogenic
g.73006570_73014288del
-
del exon5_6 73006570-73014289del
-
BBS4_000065
7,719 bp deletion, 1 bp microhomology
PubMed: Lindstrand 2016
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, PCRlr, SEQ-NG
-
-
BBS
AR800-03
PubMed: Lindstrand 2016
-
M
no
United States
-
-
-
-
-
1
LOVD
+/.
-
c.221-1035_405+2929del
r.(?)
p.(Ala74Glyfs*5)
Both (homozygous)
-
pathogenic
g.73006597_73012120del
-
del exon5_6 73006584-73012788del
-
BBS4_000067
6,204 bp deletion, AluSx - AluSg
PubMed: Lindstrand 2016
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, PCRlr, SEQ-NG
-
-
BBS
AR400-03
PubMed: Lindstrand 2016
-
F
no
United States
-
-
-
-
-
1
LOVD
?/.
4i
c.221-37G>A
r.(=)
p.(=)
Unknown
-
VUS
g.73007595G>A
-
c.221-37G>A
-
BBS4_000096
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
-
-
Germline
-
-
-
-
-
DNA, RNA
arraySNP, SEQ, RT-PCR
blood
-
retinal disease
-
PubMed: Abu-Safieh-2012
, Abu-Safieh 2010
2 unaffected siblings screened
-
no
Saudi Arabia
Arab
-
-
-
-
1
LOVD
-?/.
-
c.223T>C
r.(?)
p.(Leu75=)
Unknown
-
likely benign
g.73007634T>C
g.72715293T>C
BBS4(NM_001252678.1):c.-299T>C (p.(=))
-
BBS4_000039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.253G>C
r.(?)
p.(Glu85Gln)
Both (homozygous)
-
likely pathogenic
g.73007664G>C
g.72715323G>C
BBS4 c.253G>C;p.E85Q
-
BBS4_000120
homozygous
PubMed: Wang 2011
-
-
Germline
yes
0/200 normal matching controls, including 96 from Saudi Arabia
-
-
-
DNA
arraySNP, SEQ-NG, SEQ
blood
whole exome capture sequencing
retinal disease
KKESH205#7
PubMed: Wang 2011
family KKESH205, individual 7
M
yes
Saudi Arabia
Saudi Arabian
-
-
-
-
1
LOVD
+?/.
-
c.253G>C
r.(?)
p.(Glu85Gln)
Both (homozygous)
-
likely pathogenic
g.73007664G>C
g.72715323G>C
BBS4 c.253G>C;p.E85Q
-
BBS4_000120
homozygous
PubMed: Wang 2011
-
-
Germline
yes
0/200 normal matching controls, including 96 from Saudi Arabia
-
-
-
DNA
arraySNP, SEQ-NG, SEQ
blood
whole exome capture sequencing
retinal disease
KKESH205#3
PubMed: Wang 2011
family KKESH205, individual 3
F
yes
Saudi Arabia
Saudi Arabian
-
-
-
-
1
LOVD
+?/.
-
c.253G>C
r.(?)
p.(Glu85Gln)
Both (homozygous)
-
likely pathogenic
g.73007664G>C
g.72715323G>C
BBS4 c.253G>C;p.E85Q
-
BBS4_000120
homozygous
PubMed: Wang 2011
-
-
Germline
yes
0/200 normal matching controls, including 96 from Saudi Arabia
-
-
-
DNA
arraySNP, SEQ-NG, SEQ
blood
whole exome capture sequencing
retinal disease
KKESH205#4
PubMed: Wang 2011
family KKESH205, individual 4
M
yes
Saudi Arabia
Saudi Arabian
-
-
-
-
1
LOVD
+?/.
-
c.262del
r.(?)
p.(Glu88AsnfsTer54)
Parent #2
-
likely pathogenic
g.73007673del
g.72715332del
-
-
BBS4_000070
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
12DG0398
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
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