Global Variome shared LOVD
MKKS (McKusick-Kaufman syndrome)
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This database is one of the
"Eye disease"
gene variant databases.
The variants shown are described using the NM_170784.2 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)
association
unclassified
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
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 = singele 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
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Operator
Column type
Example
Matches
Text
Arg
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
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=""
Text
="p.0"
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!=""
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!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
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!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
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combination
Date
2019|2020 <2020-03
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Numeric
23
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|
Numeric
23|24
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!
Numeric
!23
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<
Numeric
<23
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<=
Numeric
<=23
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>
Numeric
>23
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>=
Numeric
>=23
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combination
Numeric
>=20 <30 !23
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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
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"South Asian"
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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.53>C>T
r.(?)
p.(Ile178=)
Unknown
-
benign
g.10393629G>A
g.10412981G>A
MKKS 534C>T
-
MKKS_000062
association study; frequency difference obese/healthy individuals non-significant
PubMed: Rouskas 2008
-
-
Unknown
?
CC 171/220 obese subjects, CC 275/330 non-obese controls
-
-
-
DNA
RFLP
blood
-
obesity
?
PubMed: Rouskas 2008
association study; 220 obese subjects, 330 non-obese controls
M;F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.-7485893_*1185894del
r.0?
p.0?
Unknown
-
pathogenic
g.9200001_17900000del
g.9200001_17900000del
JAG1 del20p12.1-p12.2,
-
JAG1_000783
heterozygous
PubMed: Thorsteinsson 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
retrospective analysis
retinal disease
AgS1
PubMed: Thorsteinsson 2021
-
?
-
Iceland
-
-
-
-
-
1
LOVD
?/.
1
c.-3436C>T
r.(?)
p.?
Unknown
-
VUS
g.10417543G>A
-
BBS6: c.-3436C>T
-
MKKS_000099
-
PubMed: M'hamdi-2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
targeted exon capture strategy
retinal disease
-
PubMed: M'hamdi-2014
-
F
yes
Tunisia
Tunisian
-
-
-
-
1
LOVD
-?/.
-
c.-649+2430T>G
r.(=)
p.(=)
Unknown
-
likely benign
g.10412326A>C
-
MKKS(NM_018848.3):c.-649+6T>G
-
MKKS_000141
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-417-13dup
r.(=)
p.(=)
Unknown
-
likely benign
g.10394599dup
-
MKKS(NM_018848.3):c.-417-13dupT
-
MKKS_000140
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
_3_6_
c.(?_-417-1)_*467{0}
r.0
p.0
Unknown
-
VUS
g.(?_2639084)_(10394167_?)del
-
chr20:2639084-10394167
-
MKKS_000000
-
PubMed: Ellingsford 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
CNV gene panel next-generation sequencing
retinal disease
13009597
PubMed: Ellingsford 2018
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+/.
1
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.10417543G>A
-
c.-3436C >T
-
MKKS_000099
-
PubMed: M'hamdi 2014
-
-
Unknown
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: M'hamdi_2014
-
F
yes
Tunisia
Tunisian
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
BBS6:C499S
-
DNMT3B_000000
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic (recessive)
g.?
-
BBS6:Q147X
-
DNMT3B_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
-
pathogenic (recessive)
g.10393205T>A
-
g.10393205T>A*
-
MKKS_000099
-
PubMed: Anasagasti-2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.?
Unknown
-
pathogenic (recessive)
g.10393205T>A
-
g.10393205T>A*
-
MKKS_000099
-
PubMed: Anasagasti-2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Anasagasti-2013
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Unknown
-
likely pathogenic
g.?
-
BBS6:Q147X
-
DNMT3B_000000
-
PubMed: Eichers-2009
, Katsanis 2001
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Beales 2003
-
-
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.?
r.(?)
p.F94SfsX9
Both (homozygous)
-
pathogenic
g.?
-
[F94SfsX9]+[F94SfsX9]
-
DNMT3B_000000
-
PubMed: Billingsley-2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Billingsley-2010
-
M
-
-
Newfoundland
-
-
-
-
1
LOVD
+?/.
-
c.?
r.(?)
p.?
Parent #2
-
likely pathogenic
g.?
-
[p.T501M];[p.R525H]
-
DNMT3B_000000
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
-
M
-
-
Ghanian
-
-
-
-
1
LOVD
?/.
3
c.3G>H
r.?
p.?
Unknown
-
VUS
g.10394160C>A
-
BBS6:p.[M1I];[Y37C]
-
MKKS_000127
-
PubMed: Scheidecker 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Scheidecker 2015
cone-rod distrophy
M
-
-
-
-
-
-
-
1
LOVD
-/.
3
c.16G>A
r.(?)
p.(Ala6Thr)
Unknown
-
benign
g.10394147C>T
g.10413499C>T
MKKS(NM_018848.3):c.16G>A (p.A6T)
-
MKKS_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.16G>A
r.(?)
p.(Ala6Thr)
Unknown
-
benign
g.10394147C>T
-
MKKS(NM_018848.3):c.16G>A (p.A6T)
-
MKKS_000069
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.59A>G
r.(?)
p.(Glu20Gly)
Unknown
-
VUS
g.10394104T>C
-
MKKS(NM_018848.3):c.59A>G (p.E20G)
-
MKKS_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
./.
3
c.67A>G
r.(?)
p.(Arg23Gly)
Both (homozygous)
-
likely benign
g.10394096T>C
g.10413448T>C
c.67T>C / g.10394096A>G
-
MKKS_000048
-
Journal: Lim 2014
-
-
Germline
no
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
3
c.67A>G
r.(?)
p.(Arg23Gly)
Unknown
-
likely benign
g.10394096T>C
g.10413448T>C
MKKS(NM_018848.3):c.67A>G (p.(Arg23Gly), p.R23G)
-
MKKS_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.67A>G
r.(?)
p.(Arg23Gly)
Unknown
-
likely benign
g.10394096T>C
-
MKKS(NM_018848.3):c.67A>G (p.(Arg23Gly), p.R23G)
-
MKKS_000048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.110A>G
r.(?)
p.(Tyr37Cys)
Unknown
-
pathogenic
g.10394053T>C
g.10413405T>C
MKKS(NM_018848.3):c.110A>G (p.Y37C)
-
MKKS_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.110A>G
r.(?)
p.(Tyr37Cys)
Unknown
-
pathogenic
g.10394053T>C
g.10413405T>C
MKKS(NM_018848.3):c.110A>G (p.Y37C)
-
MKKS_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.110A>G
r.(?)
p.(Tyr37Cys)
Unknown
-
pathogenic
g.10394053T>C
g.10413405T>C
MKKS(NM_018848.3):c.110A>G (p.Y37C)
-
MKKS_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.110A>G
r.(?)
p.(Tyr37Cys)
Unknown
-
pathogenic
g.10394053T>C
g.10413405T>C
MKKS(NM_018848.3):c.110A>G (p.Y37C)
-
MKKS_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.110A>G
r.(?)
p.(Tyr37Cys)
Both (homozygous)
-
likely pathogenic
g.10394053T>C
g.10413405T>C
-
-
MKKS_000005
-
PubMed: Stone 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
-
retinal disease
619
PubMed: Stone 2017
1 affected
M
-
(United States)
-
-
-
-
-
1
LOVD
+?/.
3
c.110A>G
r.(?)
p.(Tyr37Cys)
Both (homozygous)
-
likely pathogenic (recessive)
g.10394053T>C
-
BBS6:Y37C
-
MKKS_000005
-
PubMed: Katsanis-2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Katsanis-2001
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
3
c.110A>G
r.(?)
p.(Tyr37Cys)
Unknown
-
likely pathogenic
g.10394053T>C
-
BBS6:c.110A>G
-
MKKS_000005
-
PubMed: Muller-2010
, Stone 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
ASPER microarray
retinal disease
-
PubMed: Muller-2010
, Stone 2000
-
-
-
-
white
-
-
-
-
1
LOVD
+?/.
3
c.110A>G
r.(?)
p.(Tyr37Cys)
Parent #1
-
likely pathogenic
g.10394053T>C
-
BBS6:c.110A>G
-
MKKS_000005
-
PubMed: Muller-2010
, Stone 2000
-
-
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
blood
-
retinal disease
-
PubMed: Muller-2010
, Stone 2000
-
-
-
-
white
-
-
-
-
1
LOVD
+?/.
3
c.110A>G
r.(?)
p.(Tyr37Cys)
Both (homozygous)
-
likely pathogenic
g.10394053T>C
-
BBS6:Y37C
-
MKKS_000005
-
PubMed: Eichers-2009
, Katsanis 2002
-
-
Germline
-
-
-
-
-
DNA
?
-
-
retinal disease
-
PubMed: Eichers-2009
, Katsanis 2002
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
3
c.110A>G
r.(?)
p.(Tyr37Cys)
Unknown
-
likely pathogenic
g.10394053T>C
-
BBS6:c.110A>G
-
MKKS_000005
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Feuillan-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
3
c.110A>G
r.(?)
p.(Tyr37Cys)
Unknown
-
likely pathogenic
g.10394053T>C
-
BBS6:c.110A>G
-
MKKS_000005
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Feuillan-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
3
c.110A>G
r.(?)
p.(Tyr37Cys)
Both (homozygous)
-
likely pathogenic
g.10394053T>C
-
BBS6:c.110A>G
-
MKKS_000005
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Feuillan-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
3
c.110A>G
r.(?)
p.(Tyr37Cys)
Unknown
-
likely pathogenic
g.10394053T>C
-
c.110A>G
-
MKKS_000005
-
PubMed: Schaefer-2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Schaefer-2011
-
-
-
France
french
-
-
-
-
1
LOVD
?/.
3
c.110A>G
r.(?)
p.(Tyr37Cys)
Unknown
-
VUS
g.10394053T>C
-
BBS6:p.[M1I];[Y37C]
-
MKKS_000005
-
PubMed: Scheidecker 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Scheidecker 2015
cone-rod distrophy
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.110A>G
r.(?)
p.(Tyr37Cys)
Paternal (confirmed)
-
likely pathogenic
g.10394053T>C
g.10413405T>C
MKKS 997A->G, Y37C
-
MKKS_000005
obsolete nucletotide annotation, it should be c.110A>G and not 997A->G; heterozygous
PubMed: Stone 2000
-
-
Germline
yes
0/200 chromosomes from the non-Amish control group
-
-
-
DNA
SEQ
-
-
MKKS
?
PubMed: Stone 2000
-
F
-
United States
Northern European
-
-
-
-
1
LOVD
+?/.
-
c.110A>G
r.(?)
p.(Tyr37Cys)
Both (homozygous)
-
likely pathogenic
g.10394053T>C
g.10413405T>C
MKKS Y37C
-
MKKS_000005
homozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/188 European or 24 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
AR237_04
PubMed: Katsanis 2000
family AR237
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.110A>G
r.(?)
p.(Tyr37Cys)
Both (homozygous)
-
likely pathogenic
g.10394053T>C
g.10413405T>C
MKKS Y37C
-
MKKS_000005
homozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/188 European or 24 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
AR237_06
PubMed: Katsanis 2000
family AR237
M
-
-
-
-
-
-
-
1
LOVD
-?/.
3
c.114C>T
r.(?)
p.(Gly38=)
Unknown
-
likely benign
g.10394049G>A
g.10413401G>A
MKKS(NM_018848.3):c.114C>T (p.G38=)
-
MKKS_000068
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3
c.116C>T
r.(?)
p.(Pro39Leu)
Both (homozygous)
-
likely pathogenic
g.10394047G>A
-
c.116C>T p.(P39L)
-
MKKS_000123
-
PubMed: Abu-Safieh-2012
-
-
Germline
-
0/96 ethnically matched controls
-
-
-
DNA, RNA
arraySNP, SEQ, RT-PCR
blood
-
retinal disease
-
PubMed: Abu-Safieh-2012
2 unaffected siblings screened
-
yes
Saudi Arabia
Arab
-
-
-
-
1
LOVD
+?/.
-
c.116C>T
r.(?)
p.(Pro39Leu)
Both (homozygous)
-
likely pathogenic
g.10394047G>A
g.10413399G>A
MKKS c.116C>T, p.(Pro39Leu)
-
MKKS_000123
homozygous
PubMed: Aldahmesh 2014
-
-
Germline
?
-
-
-
-
DNA
arraySNP, SEQ
-
-
BBS
BBS_DG9a
PubMed: Aldahmesh 2014
family BBS_DG9, individual a
M
yes
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
-
c.116C>T
r.(?)
p.(Pro39Leu)
Both (homozygous)
-
likely pathogenic
g.10394047G>A
g.10413399G>A
MKKS c.116C>T, p.(Pro39Leu)
-
MKKS_000123
homozygous
PubMed: Aldahmesh 2014
-
-
Germline
?
-
-
-
-
DNA
arraySNP, SEQ
-
-
BBS
BBS_DG9b
PubMed: Aldahmesh 2014
family BBS_DG9, individual b
M
yes
Saudi Arabia
-
-
-
-
-
1
LOVD
-/.
3
c.117C>T
r.(?)
p.(Pro39=)
Unknown
-
benign
g.10394046G>A
g.10413398G>A
MKKS(NM_018848.3):c.117C>T (p.P39=)
-
MKKS_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
3
c.117C>T
r.(?)
p.(Pro39=)
Unknown
-
benign
g.10394046G>A
g.10413398G>A
MKKS(NM_018848.3):c.117C>T (p.P39=)
-
MKKS_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3
c.117C>T
r.(=)
p.(=)
Unknown
-
pathogenic
g.10394046G>A
-
BBS6:c.117C>T
-
MKKS_000067
-
PubMed: Hoskins-2003
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ, HD
blood
-
retinal disease
-
PubMed: Hoskins-2003
-
-
-
-
-
-
-
-
-
1
LOVD
-/.
-
c.117C>T
r.(?)
p.(=)
Unknown
-
benign
g.10394046G>A
g.10413398G>A
-
-
MKKS_000067
-
PubMed: Smaoui 2006
-
rs17852626
Germline
-
4/19 families BBS
-
-
-
DNA
SEQ
-
-
BBS
-
PubMed: Smaoui 2006
-
-
yes
Tunisia
-
-
-
-
-
1
Johan den Dunnen
+/.
3
c.119C>G
r.(?)
p.(Ser40*)
Both (homozygous)
-
pathogenic
g.10394044G>C
-
c.119C>G
-
MKKS_000130
-
PubMed: Ullah-2017
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
E:III-7
PubMed: Ullah-2017
-
F
yes
Pakistan
-
-
-
-
-
1
LOVD
+/.
3
c.119C>G
r.(?)
p.(Ser40*)
Both (homozygous)
-
pathogenic
g.10394044G>C
-
c.119C>G
-
MKKS_000130
-
PubMed: Ullah-2017
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
E:IV-3
PubMed: Ullah-2017
-
M
yes
Pakistan
-
-
-
-
-
1
LOVD
+/.
3
c.119C>G
r.(?)
p.(Ser40*)
Both (homozygous)
-
pathogenic
g.10394044G>C
-
c.119C>G
-
MKKS_000130
-
PubMed: Ullah-2017
-
-
Germline
yes
-
-
-
-
DNA
arraySNP, SEQ
blood
-
retinal disease
E:IV-4
PubMed: Ullah-2017
-
M
yes
Pakistan
-
-
-
-
-
1
LOVD
+/.
3
c.121G>C
r.(?)
p.(Gly41Arg)
Both (homozygous)
-
pathogenic
g.10394042C>G
-
[G41R]+[G41R]
-
MKKS_000122
-
PubMed: Billingsley-2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Billingsley-2010
-
F
-
-
French-Canadian
-
-
-
-
1
LOVD
+?/.
3
c.121G>C
r.(?)
p.(Gly41Arg)
Parent #2
-
likely pathogenic
g.10394042C>G
-
[p.G539D];[p.P632FfsX7]
-
MKKS_000122
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
-
M
-
-
Spanish
-
-
-
-
1
LOVD
+?/.
-
c.155G>A
r.(?)
p.(Gly52Asp)
Parent #1
-
likely pathogenic
g.10394008C>T
-
MKKS 1042G->A, G52D
-
MKKS_000151
obsolete nucletotide annotation, it should be c.155G>A and not 1042G->A; heterozygous
PubMed: Slavotinek 2000
-
-
Germline
yes
0/102 chromosomes from Hispanic controls
-
-
-
DNA
SEQ
-
-
BBS
-
PubMed: Slavotinek 2000
Family 1
F
-
United States
Hispanic
-
-
-
-
1
LOVD
?/.
3
c.166A>G
r.(?)
p.(Thr56Ala)
Unknown
-
VUS
g.10393997T>C
g.10413349T>C
MKKS(NM_018848.3):c.166A>G (p.T56A)
-
MKKS_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
3
c.169A>G
r.(?)
p.(Thr57Ala)
Unknown
-
VUS
g.10393994T>C
g.10413346T>C
MKKS(NM_018848.3):c.169A>G (p.T57A)
-
MKKS_000006
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3
c.169A>G
r.(?)
p.(Thr57Ala)
Unknown
-
likely pathogenic
g.10393994T>C
-
BBS6:c.169A>G
-
MKKS_000006
-
PubMed: Muller-2010
, Katsanis 2000
-
-
Germline
-
-
-
-
-
DNA
?
blood
ASPER microarray
retinal disease
-
PubMed: Muller-2010
, Katsanis 2000
-
-
-
-
white
-
-
-
-
1
LOVD
+?/.
-
c.169A>G
r.(?)
p.(Thr57Ala)
Paternal (confirmed)
-
likely pathogenic
g.10393994T>C
g.10413346T>C
MKKS T57A
-
MKKS_000006
single heterozygous, no second allele found
PubMed: Katsanis 2000
-
-
Germline
yes
0/192 European or 24 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
AR301
PubMed: Katsanis 2000
single heterozygous
M
-
-
-
-
-
-
-
1
LOVD
-/.
3
c.207C>T
r.(?)
p.(Val69=)
Unknown
-
benign
g.10393956G>A
g.10413308G>A
MKKS(NM_018848.3):c.207C>T (p.V69=)
-
MKKS_000065
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.250C>T
r.(?)
p.(His84Tyr)
Both (homozygous)
-
likely pathogenic
g.10393913G>A
g.10413265G>A
MKKS 1137C->T, H84Y
-
MKKS_000150
obsolete nucletotide annotation, it should be c.250C>T and not 1137C->T; predicted to interfere with ATP hydrolysis; linked in this family to a likely benign p.A242S variant; homozygous
PubMed: Stone 2000
-
-
Germline
yes
0/200 chromosomes from the non-Amish control group
-
-
-
DNA
SEQ
-
-
MKKS
?
PubMed: Stone 2000
whole family described elsewhere (Stone et al.. 1998)
-
likely
United States
Amish
-
-
-
-
1
LOVD
+?/.
3
c.269A>G
r.(?)
p.(Asp90Gly)
Maternal (confirmed)
-
likely pathogenic
g.10393894T>C
g.10413246T>C
-
-
MKKS_000046
-
PubMed: González-del Pozo 2014
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-S
-
-
BBS
-
-
1 familie, 3 patients
M
yes
Spain
Hispanic
-
-
-
-
1
María González-del Pozo
+/.
3
c.269A>G
r.(?)
p.(Asp90Gly)
Maternal (inferred)
-
pathogenic
g.10393894T>C
-
c.269A>G; p.D90G
-
MKKS_000046
-
PubMed: Gonzalez del Pozo 2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Gonzalez-del Pozo-2013
-
F
-
Spain
spanish
-
-
-
-
1
LOVD
+/.
3
c.269A>G
r.(?)
p.(Asp90Gly)
Maternal (inferred)
-
pathogenic
g.10393894T>C
-
c.269A>G; p.D90G
-
MKKS_000046
-
PubMed: Gonzalez del Pozo 2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Gonzalez-del Pozo-2013
-
M
-
Spain
spanish
-
-
-
-
1
LOVD
+/.
3
c.269A>G
r.(?)
p.(Asp90Gly)
Maternal (inferred)
-
pathogenic
g.10393894T>C
-
c.269A>G; p.D90G
-
MKKS_000046
-
PubMed: Gonzalez del Pozo 2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Gonzalez-del Pozo-2013
-
M
-
Spain
spanish
-
-
-
-
1
LOVD
+?/.
-
c.281del
r.(?)
p.(Phe94Serfs*9)
Both (homozygous)
-
likely pathogenic
g.10393883del
-
MKKS 1167 delT
-
MKKS_000149
obsolete nucletotide annotation, it should be c.281del and not 1167 delT; homozygous
PubMed: Slavotinek 2000
-
-
Germline
yes
0/102 Northern European control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
-
PubMed: Slavotinek 2000
Family 3
M
yes
United States
Newfoundlandese
-
-
-
-
1
LOVD
+?/.
-
c.281del
r.(?)
p.(Phe94Serfs*9)
Both (homozygous)
-
likely pathogenic
g.10393883del
-
MKKS 1167 delT
-
MKKS_000149
obsolete nucletotide annotation, it should be c.281del and not 1167 delT; No DNA was available from the father, so might be a deletion on the other allele; homozygous
PubMed: Slavotinek 2000
-
-
Germline
yes
0/102 Northern European control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
-
PubMed: Slavotinek 2000
Family 4, proband
F
likely
United States
Newfoundlandese
-
-
-
-
1
LOVD
+?/.
-
c.281del
r.(?)
p.(Phe94Serfs*9)
Both (homozygous)
-
likely pathogenic
g.10393883del
-
MKKS 1167 delT
-
MKKS_000149
obsolete nucletotide annotation, it should be c.281del and not 1167 delT; No DNA was available from the father, so might be a deletion on the other allele; homozygous
PubMed: Slavotinek 2000
-
-
Germline
yes
0/102 Northern European control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
-
PubMed: Slavotinek 2000
Family 4, proband's brother
M
likely
United States
Newfoundlandese
-
-
-
-
1
LOVD
+?/.
-
c.281del
r.(?)
p.(Phe94Serfs*9)
Paternal (inferred)
-
likely pathogenic
g.10393883del
g.10413235del
MKKS fs2=280delT (F94fsX103)
-
MKKS_000149
heterozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/168 European or 84 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
NF-B1_03
PubMed: Katsanis 2000
family NF-B1
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.281del
r.(?)
p.(Phe94Serfs*9)
Paternal (inferred)
-
likely pathogenic
g.10393883del
g.10413235del
MKKS fs2=280delT (F94fsX103)
-
MKKS_000149
heterozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/168 European or 84 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
NF-B1_04
PubMed: Katsanis 2000
family NF-B1
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.281del
r.(?)
p.(Phe94Serfs*9)
Maternal (confirmed)
-
likely pathogenic
g.10393883del
g.10413235del
MKKS fs2=280delT (F94fsX103)
-
MKKS_000149
heterozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/168 European or 84 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
NF-B5_07
PubMed: Katsanis 2000
family NF-B5
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.281del
r.(?)
p.(Phe94Serfs*9)
Both (homozygous)
-
likely pathogenic
g.10393883del
g.10413235del
MKKS fs2=280delT (F94fsX103)
-
MKKS_000149
homozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/168 European or 84 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
NF-B3_04
PubMed: Katsanis 2000
family NF-B3 - probably family 3 from Slavotinek et al., 2002
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.281del
r.(?)
p.(Phe94Serfs*9)
Both (homozygous)
-
likely pathogenic
g.10393883del
g.10413235del
MKKS fs2=280delT (F94fsX103)
-
MKKS_000149
homozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/168 European or 84 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
NF-B4_04
PubMed: Katsanis 2000
family NF-B4 - probably family 4 from Slavotinek et al., 2002
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.281del
r.(?)
p.(Phe94Serfs*9)
Both (homozygous)
-
likely pathogenic
g.10393883del
g.10413235del
MKKS fs2=280delT (F94fsX103)
-
MKKS_000149
homozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/168 European or 84 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
NF-B4_07
PubMed: Katsanis 2000
family NF-B4 - probably family 4 from Slavotinek et al., 2002
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.287C>T
r.(?)
p.(Ala96Val)
Both (homozygous)
-
likely pathogenic
g.10393876G>A
g.10413228G>A
MKKS c.287C>T, p.Ala96Val
-
MKKS_000155
homozygous
PubMed: Ullah 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
-
BBS
B_V-1
PubMed: Ullah 2018
Family B, individual V-1, brother of V-4
M
yes
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.287C>T
r.(?)
p.(Ala96Val)
Both (homozygous)
-
likely pathogenic
g.10393876G>A
g.10413228G>A
MKKS c.287C>T, p.Ala96Val
-
MKKS_000155
homozygous
PubMed: Ullah 2018
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG, SEQ
-
-
BBS
B_V-4
PubMed: Ullah 2018
Family B, individual V-4, sister of V-1
F
yes
Pakistan
-
-
-
-
-
1
LOVD
+?/.
-
c.295T>C
r.(?)
p.(Cys99Arg)
Unknown
-
likely pathogenic
g.10393868A>G
g.10413220A>G
-
-
MKKS_000097
-
PubMed: Patel 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
gene panel
retinal disease
11DG1165
PubMed: Patel 2016
-
-
-
Saudi Arabia
-
-
-
-
-
1
LOVD
+/.
3
c.295T>C
r.(?)
p.(Cys99Arg)
Both (homozygous)
-
pathogenic
g.10393868A>G
-
[C99R]+[C99R]
-
MKKS_000097
-
PubMed: Billingsley-2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Billingsley-2010
-
M
-
-
Portuguese
-
-
-
-
1
LOVD
+?/.
3
c.295T>C
r.(?)
p.(Cys99Arg)
Parent #2
-
likely pathogenic
g.10393868A>G
-
[c.197+1G>T];[p.L600S]
-
MKKS_000097
-
PubMed: Deveault-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Deveault-2011
novel
M
-
-
Mexican/Norwegian/Danish
-
-
-
-
1
LOVD
+?/.
-
c.295T>C
r.(?)
p.(Cys99Arg)
Both (homozygous)
-
likely pathogenic
g.10393868A>G
g.10413220A>G
MKKS c.29ST >C p.(Cys99Arg)
-
MKKS_000097
homozygous
PubMed: Méjécase 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
-
retrospective case note review, targeted gene panel testing
retinal disease
44
{PMID:Méjécase 2020:3278337
-
?
-
United Arab Emirates
-
-
-
-
-
1
LOVD
+/.
3
c.295T>C
r.(?)
p.(Cys99Arg)
Parent #1
-
pathogenic (recessive)
g.10393868A>G
-
BBS6:c.[295T>C];[492T>A]
-
MKKS_000097
-
PubMed: Mary-2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Mary 2019
Fetus: term at 24 gestation weeks
F
-
France
-
-
-
-
-
1
LOVD
-?/.
-
c.336A>G
r.(?)
p.(Thr112=)
Unknown
-
likely benign
g.10393827T>C
g.10413179T>C
MKKS(NM_018848.3):c.336A>G (p.T112=)
-
MKKS_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.363A>C
r.(?)
p.(Lys121Asn)
Unknown
-
VUS
g.10393800T>G
g.10413152T>G
MKKS(NM_018848.3):c.363A>C (p.K121N)
-
MKKS_000083
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
3
c.380del
r.(?)
p.(Cys127Serfs*32)
Unknown
-
likely pathogenic
g.10393783del
-
BBS6:c.380delG
-
MKKS_000121
-
PubMed: Feuillan-2011
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Feuillan-2011
-
-
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.415C>T
r.(?)
p.(Arg139*)
Unknown
-
likely pathogenic
g.10393748G>A
g.10413100G>A
BBS6 c.415C>T, p.Arg139X
-
MKKS_000148
heterozygous
PubMed: Putoux 2010
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
BBS
1
PubMed: Putoux 2010
-
F
-
-
-
-
-
-
-
1
LOVD
-?/.
3
c.416G>A
r.(?)
p.(Arg139Gln)
Unknown
-
likely benign
g.10393747C>T
g.10413099C>T
MKKS(NM_018848.3):c.416G>A (p.R139Q)
-
MKKS_000064
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.416G>A
r.(?)
p.(Arg139Gln)
Parent #1
-
benign
g.10393747C>T
g.10413099C>T
-
-
MKKS_000064
2 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs145045986
Germline
-
2/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
2
Mohammed Faruq
+?/.
-
c.416G>A
r.(?)
p.(Arg139Gln)
Unknown
-
likely pathogenic
g.10393747C>T
g.10413099C>T
MKKS/BBS6 c.416G>A, p.Arg139Gln
-
MKKS_000064
single heterozygous variant in a recessive disease; no second causative allele found
PubMed: Kang 2016
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
-
targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD
retinal disease
J-59
PubMed: Kang 2016
-
?
-
Korea, South (Republic)
-
-
-
-
-
1
LOVD
-?/.
-
c.420C>T
r.(?)
p.(Ile140=)
Unknown
-
likely benign
g.10393743G>A
g.10413095G>A
MKKS(NM_018848.3):c.420C>T (p.I140=)
-
MKKS_000082
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
3
c.429delCT
r.(?)
p.?
Unknown
-
unclassified
g.10393734delAG
-
[p.G119S; p.Y263H]
-
MKKS_000120
normal 2nd chromosome
PubMed: Imhoff-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Imhoff-2011
additional mutation
-
-
-
South African Black/European/Asian
-
-
-
-
1
LOVD
?/.
3
c.429_433delinsTT
r.(?)
p.(Phe144_Ser145delinsCys)
Unknown
-
unclassified
g.10393730_10393734delinsAA
-
c.429delCT433delAG
-
MKKS_000105
-
PubMed: Hichri-2005
-
-
Unknown
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: Hichri-2005
-
-
-
France
white
-
-
-
-
1
LOVD
+?/.
-
c.429_434delinsTT
r.(?)
p.(Phe144Leufs*14)
Both (homozygous)
-
likely pathogenic
g.10393729_10393734delinsAA
-
MKKS 1316delC and 1324-1326delGTA
-
MKKS_000147
obsolete nucletotide annotation, it should be c.429_434delinsTT and not 1316delC with 1324-1326delGTA; homozygous
PubMed: Slavotinek 2000
-
-
Germline
yes
0/102 Northern European control chromosomes
-
-
-
DNA
STR, SEQ
-
-
BBS
-
PubMed: Slavotinek 2000
Family 2, proband
F
-
United States
Newfoundlandese
-
-
-
-
1
LOVD
+?/.
-
c.429_434delinsTT
r.(?)
p.(Phe144Leufs*14)
Both (homozygous)
-
likely pathogenic
g.10393729_10393734delinsAA
-
MKKS 1316delC and 1324-1326delGTA
-
MKKS_000147
obsolete nucletotide annotation, it should be c.429_434delinsTT and not 1316delC with 1324-1326delGTA; homozygous
PubMed: Slavotinek 2000
-
-
Germline
yes
0/102 Northern European control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
-
PubMed: Slavotinek 2000
Family 2, proband's brother
M
-
United States
Newfoundlandese
-
-
-
-
1
LOVD
+?/.
-
c.429_434delinsTT
r.(?)
p.(Phe144Leufs*14)
Maternal (confirmed)
-
likely pathogenic
g.10393729_10393734delinsAA
g.10413081_10413086delinsAA
MKKS fs1=429delCT/433delAG (D143fsX157)
-
MKKS_000147
heterozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/172 European or 76 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
NF-B1_03
PubMed: Katsanis 2000
family NF-B1
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.429_434delinsTT
r.(?)
p.(Phe144Leufs*14)
Maternal (confirmed)
-
likely pathogenic
g.10393729_10393734delinsAA
g.10413081_10413086delinsAA
MKKS fs1=429delCT/433delAG (D143fsX157)
-
MKKS_000147
heterozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/172 European or 76 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
NF-B1_04
PubMed: Katsanis 2000
family NF-B1
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.429_434delinsTT
r.(?)
p.(Phe144Leufs*14)
Both (homozygous)
-
likely pathogenic
g.10393729_10393734delinsAA
g.10413081_10413086delinsAA
MKKS fs1=429delCT/433delAG (D143fsX157)
-
MKKS_000147
homozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/172 European or 76 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
NF-B13_03
PubMed: Katsanis 2000
family NF-B13
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.429_434delinsTT
r.(?)
p.(Phe144Leufs*14)
Both (homozygous)
-
likely pathogenic
g.10393729_10393734delinsAA
g.10413081_10413086delinsAA
MKKS fs1=429delCT/433delAG (D143fsX157)
-
MKKS_000147
homozygous
PubMed: Katsanis 2000
-
-
Germline
yes
0/172 European or 76 Newfoundland unrelated control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
NF-B13_04
PubMed: Katsanis 2000
family NF-B13
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.431_441delTTAGTAGTACT
r.(?)
p.(Phe144Serfs*9)
Both (homozygous)
-
likely pathogenic
g.10393725_10393735del
g.10413077_10413087del
MKKS c.431_441delTTAGTAGTACT
-
MKKS_000146
homozygous
PubMed: Slavotinek 2002
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
BBS
patient 18
PubMed: Slavotinek 2002
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.432_435del
r.(?)
p.(Phe144Leufs*14)
Both (homozygous)
ACMG
likely pathogenic
g.10393729_10393732del
g.10413081_10413084del
MKKS, c.432_435delTAGT, p.Phe144Leufs*14, homozygous
-
MKKS_000134
-
PubMed: Perea-Romero 2021
-
-
Unknown
?
-
-
-
-
DNA
?
-
clinical exome sequencing
retinal disease
RP-1372
PubMed: Perea-Romero 2021
-
-
-
Spain
-
-
-
-
-
1
LOVD
+?/.
3
c.433delAG
r.(?)
p.?
Unknown
-
likely pathogenic
g.10393730delCT
-
[p.L55P];[p.E274VfsX29]
-
MKKS_000119
-
PubMed: Imhoff-2011
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
retinal disease
-
PubMed: Imhoff-2011
additional mutation
-
-
-
South African Black/European/Asian
-
-
-
-
1
LOVD
+?/.
-
c.442C>T
r.(?)
p.(Gln148*)
Unknown
-
pathogenic (recessive)
g.10393721G>A
g.10413073G>A
MKKS c.442C>T, p.(Gln148*)
-
MKKS_000001
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.464G>T
r.(?)
p.(Arg155Leu)
Maternal (confirmed)
-
likely pathogenic
g.10393699C>A
g.10413051C>A
MKKS c.463G->T, p.R155L
-
MKKS_000145
error in annotation, should be c.464G>T and not c.463G>T; single heterozygous, no second allele found; no alterations in BBS2
PubMed: Slavotinek 2002
-
-
Germline
yes
0/108 ethnically matched control chromosomes
-
-
-
DNA
SEQ
-
-
BBS
patient 19
PubMed: Slavotinek 2002
-
M
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.485C>T
r.(?)
p.(Pro162Leu)
Unknown
-
VUS
g.10393678G>A
g.10413030G>A
MKKS(NM_018848.3):c.485C>T (p.P162L)
-
MKKS_000081
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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