Global Variome shared LOVD
GK (glycerol kinase)
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Curators:
Johan den Dunnen
and
Global Variome, with Curator vacancy
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This database is one of the gene variant databases from the
Leiden Muscular Dystrophy pages
The variants shown are described using the NM_001205019.1 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
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space
Text
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|
Text
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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
+/.
1_21
c.(?_-179)_(*1866_?)del
r.0
p.0
Maternal (inferred)
-
pathogenic (recessive)
g.?
-
-
-
GK_000022
contiguous gene syndrome
PubMed: Hellerud 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
12636049.Pat1
PubMed: Hellerud 2003
-
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic
g.(28606165_28771534)_(30746860_31140035)del
-
-
-
GK_010028
-
PubMed: Carrie 1999
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
AHC, GKD, ID
-
PubMed: Carrie 1999
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_21_
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_31137345)_(33357726_?)del
g.(?_31119228)_(33339609_?)del
-
-
DMD_050080
deletion incl. IL1RAPL1, NR0B1, GK
PubMed: Zhang 2004
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_21_
c.(?_-1)_(*1_?)del
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25034000_28807460)_(31645980_31676106)del
-
-
-
DMD_040078
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
-1-21_
c.(?_-1)_(*1_?)del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic (recessive)
g.(30700000_30765000)_(31121918_31465000)del
-
-
-
DMD_040261
658 kb deletion incl. GKD_3'DMD
L Medne ASHG 2010 A1669
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, arraySNP
-
-
GKD
-
L Medne ASHG 2010 A1669
younger brother of A1669Pat5
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.(?_-1)_(*1_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_30322695)_(30746860_?)del
-
-
-
NR0B1_000002
large deletion, incl. GKD gene
PubMed: Guo 1995
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
AHC
-
PubMed: Guo 1995
-
-
-
-
-
-
-
-
-
1
Bert Bakker
+/.
_1_21_
c.-179_*2720{0}
r.0
p.0
Parent #1
-
pathogenic (recessive)
g.29949219_31144301del
g.29931102_31126184del
-
-
DMD_000533
breakpoint in intron 8 IL1RAPL1 gene (antisense strand), RNA contains new 3' sequence replacing ex79
PubMed: Jin 2000
,
PubMed: Greener 2002
,
GenBank AF181286.1
-
-
Germline
yes
-
-
-
-
DNA
PCR, RT-PCR, SEQ
-
-
AHC, DMD, GKD
10757639-Fam4482
PubMed: Jin 2000
,
PubMed: Greener 2002
2-generation family, 3 affected brothers (12y, 14y, 17y)
M
no
United Kingdom (Great Britain)
-
-
-
-
-
3
Johan den Dunnen
+/.
_1_21_
c.-179_*{0}
r.0
p.0
Maternal (confirmed)
-
pathogenic (recessive)
g.(?_30322539)_(33357493_?)del
g.(?_30304422)_(33339377_?)del
-
-
DMD_010080
deletion incl. GK, NR0B1 and DMD gene
PubMed: Tao 2022
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
DD
patient
PubMed: Tao 2022
2-generation family, 1 affected, unaffected carrier mother
M
-
China
-
01y09m
-
-
-
1
Johan den Dunnen
+/+
_1_21_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25040000_28600000)_(33229674_?)del
-
-
-
DMD_040079
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_21_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25040000_28600000)_(33229674_?)del
-
-
-
DMD_040079
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_21_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(28606165_29935580)_(33229674_?)del
-
-
-
DMD_040080
deletion incl. IL1RAPL1 (partial), NR0B1 (DAX1), GK, DMD
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_21_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(30000000_30322000)_(33229674_?)del
-
-
-
DMD_040081
deletion incl. NR0B1 (DAX1), GK, DMD
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_21_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(30328000_30670000)_(33229674_?)del
-
-
-
DMD_040082
deletion incl. GK and DMD
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_21_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_25020000)_(32235181_32305645)del
-
-
-
DMD_003417
deletion incl. ARX, IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
-
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_21_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_31137345)_(31893491_31947712)del
g.(?_31119228)_(31875374_31929595)del
-
-
DMD_054880
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_21_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25040000_28600000)_(31241239_31279071)del
-
-
-
DMD_003416
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
_1_21_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25040000_28600000)_(31241239_31279071)del
-
-
-
DMD_003416
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD (partial)
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004
,
Journal: Zhang 2004
-
M
no
United States
-
-
-
-
-
1
Johan den Dunnen
+/+
-
c.0
r.0
p.0
Parent #1
-
pathogenic (recessive)
g.(25000000_28500000)_(33357726_37000000)del
-
-
-
DMD_003415
ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted
PubMed: Piko 2009
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
MRX;IDX
-
PubMed: Piko 2009
analysis 135 BMD/DMD cases
?
-
Hungary
-
-
-
-
-
1
Johan den Dunnen
+/+
-
c.0
r.0
p.0
Parent #1
-
pathogenic (recessive)
g.(25000000_28500000)_(33357726_37000000)del
-
-
-
DMD_003415
ARX/PRRG1 present, IL1RAPL1, NR0B1, GK deleted
PubMed: Piko 2009
-
-
Germline
yes
-
-
-
-
DNA
MLPA
-
-
AHC, GKD, MRX;IDX
-
PubMed: Piko 2009
analysis 135 BMD/DMD cases
?
-
Hungary
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_21_
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_31137345)_(32867938_33038255)del
g.(?_31119228)_(32849821_33020138)del
-
-
DMD_050380
-
PubMed: Loke 2009
,
PubMed: Tomar 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
PCR
-
-
AHC, DMD, GKD
patient/Case 45
PubMed: Loke 2009
,
PubMed: Tomar 2019
-
M
no
Singapore
-
-
-
-
-
1
Poh San Lai
+/.
-
c.0
r.0
p.0
Maternal (inferred)
-
pathogenic (recessive)
g.(29686622_29935580)_(31366752_31462597)del
g.(29668505_29917463)_(31348635_31444480)del
-
-
DMD_066680
deletion involving GK and NR0B1 and part of IL1RAPL1 and DMD
PubMed: Korkut 2016
-
-
Germline
-
-
-
-
-
DNA
arrayCGH
-
-
?
Case1
PubMed: Korkut 2016
-
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(28200000_28500000)_(31986632_32235032)del
g.(28180000_28480000)_(31968515_32216915)del
-
-
DMD_066681
3.88 Mb deletion covering IL1RAPL1, GK, NR0B1 and part of DMD
PubMed: Korkut 2016
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
arrayCGH
-
-
?
case2
PubMed: Korkut 2016
-
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(25400000_25878399)_(31987991_32000000)del
-
hg19 25878399_31987991del
-
DMD_066683
6.09 Mb deletion including IL1RAPL1, DAX1, GK and last 37 exons of DMD
PubMed: Heide 2015
-
-
De novo
-
-
-
-
X-inactivation CpG island 5' CAG repeat AR gene 59%:41%
DNA
arrayCNV
-
Illumina CytoSNP12 microarray
ID
Pat1
PubMed: Heide 2015
-
F
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.0
r.0
p.0
Unknown
-
pathogenic (recessive)
g.(28900000_29008175)_(31496701_31600000)del
-
hg19 29008175–31496701del
-
DMD_066684
2.49 Mb deletion including IL1RAPL1, DAX1, GK and last 22 exons DMD
-
-
-
Germline/De novo (untested)
-
-
-
-
X-inactivation CpG island 5' CAG repeat AR gene muscle 50:50, blood 63:37
DNA
arrayCNV
-
Illumina CytoSNP12 microarray
ID
Pat2
PubMed: Heide 2015
-
F
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
1_21
c.?
r.(?)
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.?
-
-
-
GK_000000
carries GPD2:[791A>G];[791A>G] (His264Arg)
PubMed: Hellerud 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
12636049.Pat2
PubMed: Hellerud 2003
-
F
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1_21
c.?
r.(?)
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.?
-
-
-
GK_000000
unknown variant
PubMed: Sjarif 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
15026783-Pat4
PubMed: Sjarif 2004
-
M
-
-
-
-
-
-
-
1
Johan den Dunnen
./.
-
c.78+164G>C
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30671896G>C
g.30653779G>C
-
-
GK_010026
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.165G>A
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30686141G>A
g.30668024G>A
-
-
GK_010016
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.165G>A
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30686141G>A
g.30668024G>A
-
-
GK_010016
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-/.
3
c.165G>A
r.(?)
p.(=)
Parent #1
-
benign
g.30686141G>A
g.30668024G>A
-
-
GK_000009
-
PubMed: Gaudet 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
10736265.all
PubMed: Gaudet 2000
,
OMIM:var0007
5 families, 15 affecteds, 14female carriers
M
-
Canada
French-Canadian
-
-
-
-
29
Johan den Dunnen
-/.
3
c.165G>A
r.(?)
p.(=)
Maternal (confirmed)
-
benign
g.30686141G>A
g.30668024G>A
-
-
GK_000009
-
PubMed: Sargent 2000
-
-
Germline
-
-
AvaII-
-
-
DNA
SSCA, SEQ
-
-
GKD
10851254-Fam3.Pt6
PubMed: Sargent 2000
died after birth, carrier mother
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
-/.
3
c.165G>A
r.(?)
p.(=)
Maternal (confirmed)
-
benign
g.30686141G>A
g.30668024G>A
-
-
GK_000009
-
PubMed: Sargent 2000
-
-
Germline
-
4/40
AvaII-
-
-
DNA
SSCA, SEQ
-
-
Healthy/Control
10851254-con
PubMed: Sargent 2000
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
4
Johan den Dunnen
-?/.
3
c.165G>A
r.(?)
p.(=)
Parent #1
-
likely benign
g.30686141G>A
g.30668024G>A
Q55Q
-
GK_000009
recurrent, found 22 times; for details contact Lucy Raymond (flr24 @ cam.ac.uk)
PubMed: Tarpey 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MRX;IDX
-
PubMed: Tarpey 2009
-
-
-
-
-
>61y
-
-
-
22
Johan den Dunnen
+/.
3
c.182T>C
r.182u>c
p.Leu61Pro
Maternal (confirmed)
-
pathogenic (recessive)
g.30686158T>C
g.30668041T>C
-
-
GK_000025
not in100 normal chromosomes
PubMed: Sjarif 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
15026783-Pat2
PubMed: Sjarif 2004
carrier mother
M
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
3i
c.259+1G>A
r.153_259del
p.Trp52Tyrfs*29
Maternal (inferred)
-
pathogenic (recessive)
g.30686236G>A
g.30668119G>A
IVS3+1G>A
-
GK_000026
nonsense mediated mRNA decay
PubMed: Zhang 2006
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
?
-
PubMed: Zhang 2006
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.259+1354G>A
r.(=)
p.(=)
Unknown
-
benign
g.30687589G>A
g.30669472G>A
-
-
GK_010041
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
3i
c.259+2254G>A
r.[259_260ins259+2256_259+2467, 153_59delins259+2256_259+2467]
p.[Ala87Valfs*3, Trp52Tyrfs*24]
Maternal (inferred)
-
pathogenic (recessive)
g.30688489G>A
g.30670372G>A
-
-
GK_000012
-
PubMed: Sargent 2000
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
GKD
10851254-Pt4
PubMed: Sargent 2000
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
3i
c.259+2254G>A
r.[259_260ins259+2256_259+2467, 153_59delins259+2256_259+2467]
p.[Ala87Valfs*3, Trp52Tyrfs*24]
Maternal (inferred)
-
pathogenic (recessive)
g.30688489G>A
g.30670372G>A
-
-
GK_000012
not in100 normal chromosomes
PubMed: Sjarif 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
15026783-Pat3
PubMed: Sjarif 2004
-
M
-
-
-
5d
-
-
-
1
Johan den Dunnen
-/.
-
c.259+2333G>T
r.(=)
p.(=)
Unknown
-
benign
g.30688568G>T
-
-
-
GK_010050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
4
c.287C>T
r.(?)
p.(Thr96Ile)
Maternal (inferred)
-
pathogenic (recessive)
g.30695519C>T
g.30677402C>T
-
-
GK_000027
not in100 normal chromosomes
PubMed: Hellerud 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
12636049.Pat3
PubMed: Hellerud 2003
-
M
-
Italy
-
>64y
-
-
-
1
Johan den Dunnen
./.
-
c.337+385dup
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30695954dup
g.30677837dup
-
-
GK_010019
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
+?/.
4i
c.338-43_338-42ins316; 338-52_338-43dup
r.[=, 338_414del]
p.[=, Trp114Glnfs*7]
Parent #1
-
likely pathogenic (recessive)
g.?
-
IVS4-52ins316alu
-
GK_000007
insertion reverse AluY sequence (74bp T-tail); not in 167 control chromosomes;
PubMed: Zhang 2000
,
PubMed: Zhang 2006
,
OMIM:var0007
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
GKD
-
PubMed: Zhang 2000
,
PubMed: Zhang 2006
,
OMIM:var0007
-
M
-
United States
African-American
-
-
-
-
1
Johan den Dunnen
+/.
4i
c.338-1G>A
r.338_414del
p.Trp114Glnfs*7
Maternal (inferred)
-
pathogenic (recessive)
g.30709239G>A
g.30691122G>A
IVS4-1G>A
-
GK_000028
nonsense mediated mRNA decay
PubMed: Zhang 2006
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
GKD
-
PubMed: Zhang 2006
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.367G>A
r.(?)
p.(Val123Ile)
Unknown
-
likely benign
g.30709269G>A
g.30691152G>A
GK(NM_001205019.1):c.367G>A (p.V123I)
-
GK_010042
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.380G>T
r.(?)
p.(Ser127Ile)
Unknown
-
likely benign
g.30709282G>T
-
GK(NM_001205019.1):c.380G>T (p.S127I)
-
GK_010055
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
./.
-
c.552+142G>C
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30712796G>C
g.30694679G>C
-
-
GK_010020
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.552+142G>C
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30712796G>C
g.30694679G>C
-
-
GK_010020
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.553-102C>T
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30714057C>T
g.30695940C>T
-
-
GK_010023
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.553-102C>T
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30714057C>T
g.30695940C>T
-
-
GK_010023
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
+/.
7
c.553-1G>C
r.553_554del
p.Ser184Phefs*17
Maternal (inferred)
-
pathogenic (recessive)
g.30714158G>C
g.30696041G>C
IVS6-1G>C
-
GK_000001
strongly reduced levels all 3 GK-transcricpts
PubMed: Walker 1996
,
OMIM:var0001
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
GKD
08651297.1
PubMed: Walker 1996
,
OMIM:var0001
-
M
-
Belgium
-
>7y
-
-
-
1
Johan den Dunnen
+/.
7
c.593A>G
r.(?)
p.(Asp198Gly)
Maternal (inferred)
-
pathogenic (recessive)
g.30714199A>G
g.30696082A>G
593A>G (D198G)
-
GK_000017
not in >100 normal chromosomes
PubMed: Dipple 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
-
PubMed: Dipple 2001
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
7
c.601A>G
r.(?)
p.(Asn201Asp)
Maternal (confirmed)
-
pathogenic (recessive)
g.30714207A>G
g.30696090A>G
601A>G (D201N)
-
GK_000029
-
PubMed: Hellerud 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
15303806-Pat2
PubMed: Hellerud 2004
3-generation family, 3 affecteds, 3 female carriers
M
-
Sweden
-
-
-
-
-
6
Johan den Dunnen
-?/.
-
c.661G>A
r.(?)
p.(Glu221Lys)
Unknown
-
likely benign
g.30714267G>A
g.30696150G>A
GK(NM_001205019.1):c.661G>A (p.E221K)
-
GK_010034
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
8i
c.729+17C>A
r.(?)
p.(=)
Maternal (confirmed)
-
benign
g.30714817C>A
g.30696700C>A
IVS8+17C>A
-
GK_000030
-
PubMed: Sargent 2000
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
GKD
10851254-Fam3.Pt6
PubMed: Sargent 2000
died after birth, carrier mother
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.729+21_729+24del
r.(=)
p.(=)
Unknown
-
likely benign
g.30714821_30714824del
g.30696704_30696707del
GK(NM_001205019.1):c.729+21_729+24delCAAA
-
GK_010046
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
./.
-
c.730-252T>C
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30715597T>C
g.30697480T>C
-
-
GK_010025
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.730-22C>T
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30715827C>T
g.30697710C>T
-
-
GK_010004
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.730-22C>T
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30715827C>T
g.30697710C>T
-
-
GK_010004
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
?/.
-
c.745G>A
r.(?)
p.(Val249Met)
Unknown
-
VUS
g.30715864G>A
g.30697747G>A
GK(NM_001205019.1):c.745G>A (p.(Val249Met))
-
GK_010036
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.748-9T>C
r.(=)
p.(=)
Unknown
-
likely benign
g.30718522T>C
g.30700405T>C
GK(NM_001205019.1):c.748-9T>C
-
GK_010037
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.748-5A>T
r.spl?
p.?
Unknown
-
likely benign
g.30718526A>T
g.30700409A>T
GK(NM_000167.5):c.730-5A>T (p.?), GK(NM_001205019.1):c.748-5A>T
-
GK_010038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.748-5A>T
r.spl?
p.?
Unknown
-
benign
g.30718526A>T
g.30700409A>T
GK(NM_000167.5):c.730-5A>T (p.?), GK(NM_001205019.1):c.748-5A>T
-
GK_010038
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
./.
-
c.784-78_784-75dup
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30718877_30718880dup
g.30700760_30700763dup
-
-
GK_010007
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.784-78_784-75dup
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30718877_30718880dup
g.30700760_30700763dup
-
-
GK_010027
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.784-78_784-75dup
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30718877_30718880dup
g.30700760_30700763dup
-
-
GK_010007
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.784-78_784-75dup
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30718877_30718880dup
g.30700760_30700763dup
-
-
GK_010027
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
+/.
11
c.784T>C
r.784u>c
p.262CysArg
Maternal (inferred)
-
pathogenic (recessive)
g.30718955T>C
g.30700838T>C
766T>C (C256R)
-
GK_000013
not in 40 normal chromosomes
PubMed: Sargent 2000
-
-
Germline
-
-
TspRI-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
GKD
10851254-Pt5
PubMed: Sargent 2000
3-generation family, 3 affecteds, 3 carrier females; asymptomatic grandfather (II.1) and great uncle (III.3)
M
-
United Kingdom (Great Britain)
-
-
-
-
-
6
Johan den Dunnen
+/.
11
c.851C>T
r.(spl?)
p.(Thr284Met)
Maternal (confirmed)
-
pathogenic
g.30719022C>T
g.30700905C>T
833C>T (Thr278Met)
-
GK_010033
-
PubMed: Romero 1997
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
GKD
-
PubMed: Romero 1997
,
UMD 450 database
3-generation family; carrier mother
M
no
France
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.851C>T
r.(?)
p.(Thr284Met)
Unknown
-
likely pathogenic
g.30719022C>T
g.30700905C>T
GK(NM_000167.5):c.833C>T (p.T278M)
-
GK_010033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
./.
-
c.851+334A>G
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30719356A>G
g.30701239A>G
-
-
GK_010009
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
+/.
11i
c.852-1G>A
r.spl
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.30725672G>A
g.30707555G>A
IVS9A-1G>A
-
GK_000031
not in100 normal chromosomes
PubMed: Hellerud 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
12636049.Pat5
PubMed: Hellerud 2003
brother of 12636049.Pat6
M
-
Italy
-
>61y
-
-
-
1
Johan den Dunnen
+/.
11i
c.852-1G>A
r.spl
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.30725672G>A
g.30707555G>A
IVS9A-1G>A
-
GK_000031
not in100 normal chromosomes
PubMed: Hellerud 2003
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
12636049.Pat6
PubMed: Hellerud 2003
brother of 12636049.Pat5
M
-
Italy
-
>58y
-
-
-
1
Johan den Dunnen
+/.
11i
c.(851+1_852-1)_(*1866_?)del
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.?
-
del Ex9-end
-
GK_000004
-
PubMed: Sjarif 1998
,
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
GKD
09719371-1.III.1
PubMed: Sjarif 1998
,
OMIM:var0004
3-generation family, 4 affecteds, 4 female carriers
M
-
Netherlands
-
-
-
-
-
5
Johan den Dunnen
+/.
11i
c.(851+1_852-1)_(*1866_?)del
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.?
-
del Ex9-end
-
GK_000004
-
PubMed: Sjarif 1998
,
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
GKD
09719371-1.III.3
PubMed: Sjarif 1998
,
OMIM:var0004
-
M
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+/.
11i
c.(851+1_852-1)_(*1866_?)del
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.?
-
del Ex9-end
-
GK_000004
-
PubMed: Sjarif 1998
,
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
GKD
09719371-1.III.4
PubMed: Sjarif 1998
,
OMIM:var0004
nephew of 09719371-1.III.1
M
-
Netherlands
-
-
-
-
-
1
Johan den Dunnen
+/.
11i
c.(851+1_852-1)_(*1866_?)del
r.?
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.?
-
del Ex9-end
-
GK_000004
-
PubMed: Sjarif 1998
,
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
GKD
09719371-1.I.1
PubMed: Sjarif 1998
,
OMIM:var0004
maternal grandfather 09719371-1.III.1
M
-
Netherlands
-
>62y
-
-
-
1
Johan den Dunnen
-?/.
-
c.855T>C
r.(?)
p.(Tyr285=)
Unknown
-
likely benign
g.30725676T>C
g.30707559T>C
GK(NM_001205019.1):c.855T>C (p.Y285=)
-
GK_010048
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
12
c.857G>C
r.(?)
p.(Gly286Ala)
Maternal (inferred)
-
pathogenic (recessive)
g.30725678G>C
g.30707561G>C
Gly280Ala
-
GK_000011
-
PubMed: Wibmer 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
16025401-Pat1
PubMed: Wibmer 2005
-
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
12
c.880A>G
r.(?)
p.(Asn294Asp)
Maternal (confirmed)
-
pathogenic (recessive)
g.30725701A>G
g.30707584A>G
N288D
-
GK_000008
shared haplotype DXS8039-DXS997
PubMed: Gaudet 2000
,
OMIM:var0007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
10736265.all
PubMed: Gaudet 2000
,
OMIM:var0007
5 families, 15 affecteds, 14female carriers
M
-
Canada
French-Canadian
-
-
-
-
29
Johan den Dunnen
+/.
12
c.880A>G
r.(?)
p.(Asn294Asp)
Maternal (inferred)
-
pathogenic (recessive)
g.30725701A>G
g.30707584A>G
862A>G (N288D)
-
GK_000008
not in >100 normal chromosomes
PubMed: Dipple 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
PubMed: Dipple 2001
-
M
-
Canada
French-Canadian
-
-
-
-
1
Johan den Dunnen
+/.
12i
c.894+1G>T
r.852_894del
p.Tyr845Valfs*30
Maternal (inferred)
-
pathogenic (recessive)
g.30725716G>T
g.30707599G>T
IVS10+1G>T
-
GK_000032
nonsense mediated mRNA decay
PubMed: Zhang 2006
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
?
-
PubMed: Zhang 2006
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.895-7C>T
r.(=)
p.(=)
Unknown
-
likely benign
g.30726164C>T
g.30708047C>T
GK(NM_000167.5):c.877-7C>T (p.(=))
-
GK_010044
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
13
c.932C>T
r.(?)
p.(Ala311Val)
Maternal (inferred)
-
pathogenic (recessive)
g.30726208C>T
g.30708091C>T
914C>T (A305V)
-
GK_000018
not in >100 normal chromosomes
PubMed: Dipple 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
PubMed: Dipple 2001
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
13
c.946A>T
r.(?)
p.(Arg316*)
Maternal (inferred)
-
pathogenic (recessive)
g.30726222A>T
g.30708105A>T
1042T>A (R310X)
-
GK_000014
-
PubMed: Sargent 2000
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
GKD
10851254-Pt3
PubMed: Sargent 2000
asymptomatic
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.1054+2T>C
r.spl?
p.?
Unknown
-
likely pathogenic
g.30736735T>C
g.30718618T>C
-
-
GK_010049
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
./.
-
c.1054+22G>T
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30736755G>T
g.30718638G>T
-
-
GK_010010
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
./.
-
c.1054+22G>T
r.(=)
p.(=)
Maternal (inferred)
-
VUS
g.30736755G>T
g.30718638G>T
-
-
GK_010010
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG-I
-
-
CHTE
-
PubMed: Sun 2011
,
Journal: Sun 2011
-
M
no
Netherlands
-
-
-
-
-
1
Yu Sun
-/.
14i
c.1055+22G>T
r.(?)
p.(=)
Parent #1
-
benign
g.30737558G>T
-
-
-
GK_000010
Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
PubMed: Gaudet 2000
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
10736265.all
PubMed: Gaudet 2000
,
OMIM:var0007
5 families, 15 affecteds, 14female carriers
M
-
Canada
French-Canadian
-
-
-
-
29
Johan den Dunnen
+/.
15
c.1091G>A
r.(?)
p.(Cys364Tyr)
Maternal (inferred)
-
pathogenic (recessive)
g.30737572G>A
g.30719455G>A
1073G>A (C358Y)
-
GK_000023
not in100 normal chromosomes
PubMed: Hellerud 2003
-
-
Germline
-
-
Fnu4H-
-
-
DNA
SEQ
-
-
GKD
12636049.Pat4
PubMed: Hellerud 2003
-
M
-
Italy
-
>11y
-
-
-
1
Johan den Dunnen
+/.
16
c.1212A>C
r.1212a>c
p.Glu404Asp
Maternal (confirmed)
-
pathogenic (recessive)
g.30738188A>C
g.30720071A>C
1194A>C (E398D)
-
GK_000024
not in100 normal chromosomes
PubMed: Sjarif 2004
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
15026783-Pat1
PubMed: Sjarif 2004
carrier mother
M
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
16
c.1225C>T
r.(?)
p.(Gln409*)
Maternal (inferred)
-
pathogenic (recessive)
g.30738201C>T
g.30720084C>T
1207C>T (Q403X)
-
GK_000015
-
PubMed: Sargent 2000
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
GKD
10851254-Fam1.Pt1
PubMed: Sargent 2000
non-identical twin brother of 10851254-Fam1.Pt2
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
16
c.1225C>T
r.(?)
p.(Gln409*)
Maternal (inferred)
-
pathogenic (recessive)
g.30738201C>T
g.30720084C>T
1207C>T (Q403X)
-
GK_000015
-
PubMed: Sargent 2000
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
?
10851254-Fam1.Pt2
PubMed: Sargent 2000
asymptomatic non-identical twin brother of 10851254-Fam1.Pt1
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.1231C>T
r.(?)
p.(Arg411Ter)
Unknown
-
pathogenic
g.30738207C>T
g.30720090C>T
GK(NM_203391.3):c.1231C>T (p.R411*)
-
GK_010039
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
16
c.1232G>A
r.(?)
p.(Arg411Gln)
Maternal (inferred)
-
pathogenic (recessive)
g.30738208G>A
g.30720091G>A
1214G>A (R405Q)
-
GK_000019
not in >100 normal chromosomes
PubMed: Dipple 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
GKD
-
PubMed: Dipple 2001
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.1236+1G>A
r.spl?
p.?
Unknown
-
VUS
g.30738213G>A
g.30720096G>A
GK(NM_001205019.1):c.1236+1G>A
-
GK_010040
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
17
c.1255C>T
r.(?)
p.(Arg419*)
Maternal (confirmed)
-
pathogenic (recessive)
g.30738756C>T
g.30720639C>T
C1351T (R413X)
-
GK_000005
-
PubMed: Sjarif 1998
,
OMIM:var0005
-
-
Germline
-
-
TaqI-
-
-
DNA
PCR, SEQ
-
-
GKD
09719371-2.II.3
PubMed: Sjarif 1998
,
OMIM:var0005
carrier mother
M
-
Netherlands
-
>8y
-
-
-
1
Johan den Dunnen
?/.
-
c.1288G>A
r.(?)
p.(Val430Ile)
Unknown
-
VUS
g.30738789G>A
-
GK(NM_001205019.1):c.1288G>A (p.V430I)
-
GK_010052
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
17
c.1301T>C
r.(?)
p.(Met434Thr)
Maternal (inferred)
-
pathogenic (recessive)
g.30738802T>C
g.30720685T>C
1283T>C (M428T)
-
GK_000020
not in >100 normal chromosomes
PubMed: Dipple 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
PubMed: Dipple 2001
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
17
c.1331A>G
r.(?)
p.(Gln444Arg)
Maternal (inferred)
-
pathogenic (recessive)
g.30738832A>G
g.30720715A>G
1313A>G (Q438R)
-
GK_000021
not in >100 normal chromosomes
PubMed: Dipple 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
PubMed: Dipple 2001
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
17
c.1337A>T
r.1337a>u
p.Asp446Val
Maternal (confirmed)
-
pathogenic (recessive)
g.30738838A>T
g.30720721A>T
D440V
-
GK_000003
reduced GK-transcripts; not in 100 control chromosomes
PubMed: Walker 1996
,
OMIM:var0003
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
GKD
08651297.4
PubMed: Walker 1996
,
OMIM:var0003
carrier mother
M
-
Yugoslavia
-
-
-
-
-
1
Johan den Dunnen
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