Global Variome shared LOVD
KCNJ2 (potassium inwardly-rectifying channel, subfa...)
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Global Variome, with Curator vacancy
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The variants shown are described using the NM_000891.2 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)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
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$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
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<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
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>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
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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
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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192 entries on 2 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
-?/.
-
c.-158_-157insGTAGTCAGA
r.(?)
p.(=)
Unknown
-
likely benign
g.68171023_68171024insGTAGTCAGA
g.70174882_70174883insGTAGTCAGA
-
-
KCNJ2_000078
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-2C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.68171179C>T
g.70175038C>T
KCNJ2(NM_000891.3):c.-2C>T
-
KCNJ2_000079
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.283-_294+del
r.(?)
p.(Ser95_Phe98del)
Parent #1
-
pathogenic
g.?
-
-
-
KCNJ2_000019
M1, buried residue, scatterd cytoplasmic pattern (degraede proteins or channel mistrafficking)
PubMed: Plaster 2001
-
-
Germline
-
1/16 ATS families
-
-
-
DNA
SSCA, PCRms
-
-
Andersen syndrome
-
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 3328
F
?
United States
-
>26y
-
-
-
1
Ikuko Takeda
+/?
2
c.940-_945+del
r.(?)
p.(Ser314_Tyr315del)
Parent #1
-
pathogenic
g.?
-
-
-
KCNJ2_000059
G-loop in cytoplasmic, scatterd cytoplasmic pattern (degraede proteins or channel mistrafficking), golgi export motif
PubMed: Yoon 2006
PubMed: Plaster 2001
-
-
De novo
-
1/16 ATS families
-
-
-
DNA
SSCA, PCRms
-
-
Andersen syndrome
-
PubMed: Yoon 2006
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / kindred5768
F
?
United States
Cacasian
>12y
-
-
-
1
Ikuko Takeda
?/.
-
c.22C>T
r.(?)
p.(Arg8Cys)
Unknown
-
VUS
g.68171202C>T
-
KCNJ2(NM_000891.2):c.22C>T (p.(Arg8Cys))
-
KCNJ2_000110
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.97G>C
r.(?)
p.(Gly33Arg)
Unknown
-
VUS
g.68171277G>C
-
KCNJ2(NM_000891.2):c.97G>C (p.G33R)
-
KCNJ2_000108
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
2
c.118C>T
r.(?)
p.(Arg40*)
Parent #1
-
VUS
g.68171298C>T
g.70175157C>T
-
-
KCNJ2_000002
cytoplamic, N-terminus
PubMed: Kuramoto 2012
-
-
Unknown
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Kuramoto 2012
cardiac abnormalities / dysmorphic features
F
?
Japan
-
>15y
-
-
-
1
Ikuko Takeda
?/.
-
c.128G>A
r.(?)
p.(Cys43Tyr)
Unknown
-
VUS
g.68171308G>A
-
KCNJ2(NM_000891.3):c.128G>A (p.C43Y)
-
KCNJ2_000112
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.146A>G
r.(?)
p.(Lys49Arg)
Unknown
-
VUS
g.68171326A>G
g.70175185A>G
-
-
KCNJ2_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.161G>T
r.(?)
p.(Cys54Phe)
Parent #1
-
pathogenic
g.68171341G>T
g.70175200G>T
-
-
KCNJ2_000003
cytoplasmic
PubMed: Bendahhou 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Bendahhou 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / the brother and the father are nonpenetrace / 2 mutation carrers
M
?
France
-
>19y
-
-
-
1
Ikuko Takeda
-/.
-
c.174C>T
r.(?)
p.(Phe58=)
Unknown
-
benign
g.68171354C>T
g.70175213C>T
KCNJ2(NM_000891.3):c.174C>T (p.F58=)
-
KCNJ2_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.199C>T
r.(?)
p.(Arg67Trp)
Parent #1
-
pathogenic
g.68171379C>T
g.70175238C>T
-
-
KCNJ2_000004
PIP2 binding, cytoplasmic
PubMed: Andelfinger 2002
-
-
Germline
-
41/77 in the family
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Andelfinger 2002
cardiac abnormalities / 9 is non-penetrance
F
?
United States
white
>13y
-
-
-
41
Ikuko Takeda
+/?
2
c.199C>T
r.(?)
p.(Arg67Trp)
Parent #1
-
pathogenic
g.68171379C>T
g.70175238C>T
-
-
KCNJ2_000004
KJ-01, PIP2 binding, cytoplasmic
PubMed: Haruna 2007
-
-
Germline
-
-
-
-
-
DNA
SSCA, DHPLC
-
-
Andersen syndrome
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / KJ-01
F
?
Japan
Japanese
>30y
-
-
-
3
Ikuko Takeda
+/?
2
c.199C>T
r.(?)
p.(Arg67Trp)
Parent #1
-
pathogenic
g.68171379C>T
g.70175238C>T
-
-
KCNJ2_000004
PIP2 binding, cytoplasmic
PubMed: Donaldson 2003
-
-
De novo
-
2/17 ATS probands
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Donaldson 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7908
M
?
United States
-
-
-
-
-
1
Ikuko Takeda
+/?
2
c.199C>T
r.(?)
p.(Arg67Trp)
Parent #1
-
pathogenic
g.68171379C>T
g.70175238C>T
-
-
KCNJ2_000004
PIP2 binding, cytoplasmic
PubMed: Donaldson 2003
-
-
Unknown
-
2/17 ATS probands
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Donaldson 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred8636
M
?
United States
-
-
-
-
-
1
Ikuko Takeda
+/?
2
c.199C>T
r.(?)
p.(Arg67Trp)
Parent #1
-
pathogenic
g.68171379C>T
g.70175238C>T
-
-
KCNJ2_000004
PIP2 binding, cytoplasmic
PubMed: Davies 2005
-
-
De novo
-
2/>140 periodic paralysis
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>25y
-
-
-
1
Ikuko Takeda
+/?
2
c.199C>T
r.(?)
p.(Arg67Trp)
Parent #1
-
pathogenic
g.68171379C>T
g.70175238C>T
-
-
KCNJ2_000004
PIP2 binding, cytoplasmic
PubMed: Davies 2005
-
-
Germline
-
2/>140 periodic paralysis
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Davies 2005
periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>10y
-
-
-
4
Ikuko Takeda
+/?
2
c.199C>T
r.(?)
p.(Arg67Trp)
Parent #1
-
pathogenic
g.68171379C>T
g.70175238C>T
-
-
KCNJ2_000004
PIP2 binding, cytoplasmic
PubMed: Kimura 2012
-
-
Unknown
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Kimura 2012
periodic paralysis
M
?
Japan
-
>24y
-
-
-
1
Ikuko Takeda
+/.
-
c.199C>T
r.(?)
p.(Arg67Trp)
Unknown
-
pathogenic
g.68171379C>T
-
KCNJ2(NM_000891.2):c.199C>T (p.(Arg67Trp))
-
KCNJ2_000004
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/?
2
c.200G>A
r.(?)
p.(Arg67Gln)
Parent #1
-
likely pathogenic
g.68171380G>A
g.70175239G>A
-
-
KCNJ2_000005
PIP2 binding, no dominant negative effect when co-expressed with WT, cytoplasmic / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS)
PubMed: Eckhardt 2007
-
-
Unknown
-
1/541 patients*
-
-
-
DNA
PCR, DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Eckhardt 2007
cardiac abnormalities
F
?
United States
white
-
-
-
-
1
Ikuko Takeda
+/?
2
c.200G>A
r.(?)
p.(Arg67Gln)
Parent #1
-
pathogenic
g.68171380G>A
g.70175239G>A
-
-
KCNJ2_000005
Kindred 323, PIP2 binding, trafficking defect, dominant negative effect
PubMed: Haruna 2007
-
-
Germline
-
-
-
-
-
DNA
SSCA, DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Haruna 2007
cardiac abnormalities / dysmorphic features / Kindred 323
F
?
Japan
Japanese
>13y
-
-
-
1
Ikuko Takeda
+?/.
-
c.200G>A
r.(?)
p.(Arg67Gln)
Unknown
-
likely pathogenic
g.68171380G>A
g.70175239G>A
-
-
KCNJ2_000005
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/?
2
c.202T>G
r.(?)
p.(Tyr68Asp)
Parent #1
-
likely pathogenic
g.68171382T>G
g.70175241T>G
-
-
KCNJ2_000006
cytoplasmic, slide helix
PubMed: Davies 2005
-
-
Germline
-
1/>140 periodic paralysis
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>6y
-
-
-
2
Ikuko Takeda
?/.
-
c.208G>T
r.(?)
p.(Ala70Ser)
Unknown
-
VUS
g.68171388G>T
g.70175247G>T
KCNJ2(NM_000891.2):c.208G>T (p.(Ala70Ser)), KCNJ2(NM_000891.3):c.208G>T (p.A70S)
-
KCNJ2_000073
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.208G>T
r.(?)
p.(Ala70Ser)
Unknown
-
VUS
g.68171388G>T
-
KCNJ2(NM_000891.2):c.208G>T (p.(Ala70Ser)), KCNJ2(NM_000891.3):c.208G>T (p.A70S)
-
KCNJ2_000073
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
2
c.211G>A
r.(?)
p.(Asp71Asn)
Parent #1
-
VUS
g.68171391G>A
g.70175250G>A
-
-
KCNJ2_000007
cytoplasmic, slide helix
PubMed: Donaldson 2003
-
-
De novo
-
1/17 ATS probands
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Donaldson 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7770
F
?
United States
-
-
-
-
-
1
Ikuko Takeda
+/?
2
c.211G>T
r.(?)
p.(Asp71Tyr)
Parent #1
-
pathogenic
g.68171391G>T
g.70175250G>T
-
-
KCNJ2_000008
cytoplasmic, slide helix
PubMed: Marrus 2011
-
-
Unknown
-
-
-
-
-
?
?
-
-
Andersen syndrome
-
PubMed: Marrus 2011
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
United States
-
>28y
-
-
-
1
Ikuko Takeda
+/?
2
c.212A>T
r.(?)
p.(Asp71Val)
Parent #1
-
pathogenic
g.68171392A>T
g.70175251A>T
-
-
KCNJ2_000009
cytoplasmic, slide helix, dominant negative
PubMed: Plaster 2001
-
-
Germline
-
1/16 ATS families
-
-
-
DNA
PCRms
-
-
Andersen syndrome
-
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 4415
F
?
United States
-
>11y
-
-
-
10
Ikuko Takeda
?/.
-
c.213C>A
r.(?)
p.(Asp71Glu)
Unknown
-
VUS
g.68171393C>A
g.70175252C>A
KCNJ2(NM_000891.3):c.213C>A (p.D71E)
-
KCNJ2_000081
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.213C>T
r.(?)
p.(Asp71=)
Unknown
-
benign
g.68171393C>T
-
KCNJ2(NM_000891.2):c.213C>T (p.D71=), KCNJ2(NM_000891.3):c.213C>T (p.D71=)
-
KCNJ2_000099
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.213C>T
r.(?)
p.(Asp71=)
Unknown
-
likely benign
g.68171393C>T
-
KCNJ2(NM_000891.2):c.213C>T (p.D71=), KCNJ2(NM_000891.3):c.213C>T (p.D71=)
-
KCNJ2_000099
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.220A>G
r.(?)
p.(Thr74Ala)
Parent #1
-
pathogenic
g.68171400A>G
g.70175259A>G
-
-
KCNJ2_000010
slide helix, channel gating, PIP2 sensitivity
PubMed: Ballester 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ, ARMS
-
-
Andersen syndrome
-
PubMed: Ballester 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
United States
white
>10y
-
-
-
2
Ikuko Takeda
+/?
2
c.223A>G
r.(?)
p.(Thr75Ala)
Parent #1
-
pathogenic
g.68171403A>G
g.70175262A>G
-
-
KCNJ2_000011
cytoplasmic, slide helix, dominant negative effect
PubMed: Fodstad 2004
-
-
Germline
-
1/188 LQT patients
-
-
-
DNA
DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Fodstad 2004
cardiac abnormalities / periodic paralysis
F
?
Finland
-
>20y
-
-
-
7
Ikuko Takeda
+/?
2
c.224C>G
r.(?)
p.(Thr75Arg)
Parent #1
-
pathogenic
g.68171404C>G
g.70175263C>G
-
-
KCNJ2_000012
cytoplasmic, slide helix
PubMed: Yoon 2006
-
-
Unknown
-
-
-
-
-
?
?
-
-
Andersen syndrome
-
PubMed: Yoon 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
white
>25y
-
-
-
1
Ikuko Takeda
+/?
2
c.224C>G
r.(?)
p.(Thr75Arg)
Parent #1
-
pathogenic
g.68171404C>G
g.70175263C>G
-
-
KCNJ2_000012
cytoplasmic, slide helix
PubMed: Donaldson 2003
-
-
De novo
-
1/17 ATS probands
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Donaldson 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7300
F
?
United States
-
-
-
-
-
1
Ikuko Takeda
+/?
2
c.224C>G
r.(?)
p.(Thr75Arg)
Parent #1
-
pathogenic
g.68171404C>G
g.70175263C>G
-
-
KCNJ2_000012
cytoplasmic, slide helix
PubMed: Lu 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Lu 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
-
>15y
-
-
-
3
Ikuko Takeda
+/.
-
c.224C>G
r.(?)
p.(Thr75Arg)
Unknown
-
pathogenic
g.68171404C>G
g.70175263C>G
-
-
KCNJ2_000012
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.224C>T
r.(?)
p.(Thy75Met)
Parent #1
-
pathogenic
g.68171404C>T
g.70175263C>T
-
-
KCNJ2_000013
cytoplasmic region, slide helix, N-terminus, defective tafficking, no dominant negative effect
PubMed: Tani 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Tani 2007
cardiac abnormalities
F
?
Japan
Japanese
>35y
-
-
-
2
Ikuko Takeda
+/?
2
c.224C>T
r.(?)
p.(Thy75Met)
Parent #1
-
pathogenic
g.68171404C>T
g.70175263C>T
-
-
KCNJ2_000013
cytoplasmic region, slide helix, N-terminus, dominant negative effect, normal trafficking / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS)
PubMed: Eckhardt 2007
-
-
Unknown
-
1/541 patients*
-
-
-
DNA
PCR, DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Eckhardt 2007
cardiac abnormalities / periodic paralysis
F
?
United States
white
-
-
-
-
1
Ikuko Takeda
+/?
2
c.224C>T
r.(?)
p.(Thy75Met)
Parent #1
-
pathogenic
g.68171404C>T
g.70175263C>T
-
-
KCNJ2_000013
cytoplasmic, slide helix, dominant negative effect
PubMed: Davies 2005
-
-
Unknown
-
1/>140 periodic paralysis
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
United Kingdom (Great Britain)
-
>19y
-
-
-
1
Ikuko Takeda
+/.
-
c.224C>T
r.(?)
p.(Thr75Met)
Unknown
-
pathogenic
g.68171404C>T
g.70175263C>T
KCNJ2(NM_000891.3):c.224C>T (p.T75M)
-
KCNJ2_000013
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.230T>A
r.(?)
p.(Val77Glu)
Unknown
-
likely pathogenic (dominant)
g.68171410T>A
g.70175269T>A
-
-
KCNJ2_000095
de novo in patient
Handklo-Jamal, submitted 2019
-
-
De novo
yes
-
-
-
-
DNA
PCR, SEQ
peripheral blood mononuclear cells
-
Andersen syndrome
-
Handklo-Jamal, submitted 2019
-
F
no
Israel
Jewish
35y
-
-
-
1
Shimrit Oz
?/?
2
c.232G>T
r.(?)
p.(Asp78Tyr)
Parent #1
-
VUS
g.68171412G>T
g.70175271G>T
-
-
KCNJ2_000014
cytoplasmic, slide helix
PubMed: Yoon 2006
-
-
Unknown
-
-
-
-
-
DNA
?
-
-
Andersen syndrome
-
PubMed: Yoon 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
white
>38y
-
-
-
2
Ikuko Takeda
+/?
2
c.233A>G
r.(?)
p.(Asp78Gly)
Parent #1
-
pathogenic
g.68171413A>G
g.70175272A>G
-
-
KCNJ2_000015
cytoplasmic, slide helix
PubMed: Davies 2005
-
-
Unknown
-
1/>140 periodic paralysis
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>17y
-
-
-
1
Ikuko Takeda
+/?
2
c.244C>T
r.(?)
p.(Arg82Trp)
Parent #1
-
pathogenic
g.68171424C>T
g.70175283C>T
-
-
KCNJ2_000016
M1 / *Frequency: patients with a suspected clinical diagnosis of congenital long QT syndrome (LQTS)
PubMed: Eckhardt 2007
-
-
Unknown
-
1/541 patients*
-
-
-
DNA
PCR, DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Eckhardt 2007
cardiac abnormalities
F
?
United States
white
-
-
-
-
1
Ikuko Takeda
+/?
2
c.244C>T
r.(?)
p.(Arg82Trp)
Parent #1
-
pathogenic
g.68171424C>T
g.70175283C>T
-
-
KCNJ2_000016
M1 / *Frequency: Catecholaminergic polymorphic ventricular tachycardia patients
PubMed: Tester 2006
-
-
Unknown
-
2/541 patients*
-
-
-
DNA
PCR, DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Tester 2006
cardiac abnormalities
F
?
United States
-
>14y
-
-
-
1
Ikuko Takeda
+/?
2
c.244C>T
r.(?)
p.(Arg82Trp)
Parent #1
-
pathogenic
g.68171424C>T
g.70175283C>T
-
-
KCNJ2_000016
M1 / *Frequency: Catecholaminergic polymorphic ventricular tachycardia patients
PubMed: Tester 2006
-
-
Unknown
-
2/541 patients*
-
-
-
DNA
PCR, DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Tester 2006
cardiac abnormalities
F
?
United States
-
>9y
-
-
-
1
Ikuko Takeda
+/?
2
c.244C>T
r.(?)
p.(Arg82Trp)
Parent #1
-
pathogenic
g.68171424C>T
g.70175283C>T
-
-
KCNJ2_000016
M1
PubMed: Kimura 2012
-
-
Unknown
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Kimura 2012
cardiac abnormalities
F
?
Japan
-
>29y
-
-
-
1
Ikuko Takeda
+/?
2
c.244C>T
r.(?)
p.(Arg82Trp)
Parent #1
-
pathogenic
g.68171424C>T
g.70175283C>T
-
-
KCNJ2_000016
M1, KCNH2 P1093L
PubMed: Kuramoto 2012
-
-
Unknown
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Kuramoto 2012
cardiac abnormalities / dysmorphic features / KCNH2 P1093L
M
?
Japan
-
>11y
-
-
-
1
Ikuko Takeda
+/.
-
c.244C>T
r.(?)
p.(Arg82Trp)
Parent #1
-
pathogenic
g.68171424C>T
g.70175283C>T
-
-
KCNJ2_000016
2 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs199473373
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.244C>T
r.(?)
p.(Arg82Trp)
Unknown
-
likely pathogenic
g.68171424C>T
g.70175283C>T
-
-
KCNJ2_000016
variant definitively linked to disease
Fusco 2042, submitted
67568
rs199473373
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
-
CM
Fam279Pat299
Fusco 2042, submitted
-
F
-
Italy
white
-
-
-
-
1
Carmela Fusco
+/?
2
c.245G>A
r.(?)
p.(Arg82Gln)
Parent #1
-
pathogenic
g.68171425G>A
g.70175284G>A
-
-
KCNJ2_000017
M1
PubMed: Davies 2005
-
-
Germline
-
1/>140 periodic paralysis
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Davies 2005
periodic paralysis / dysmorphic features / his mother was carrer / his brother has periodic paralysis
M
?
United Kingdom (Great Britain)
-
>15y
-
-
-
1
Ikuko Takeda
+/?
2
c.245G>A
r.(?)
p.(Arg82Gln)
Parent #1
-
pathogenic
g.68171425G>A
g.70175284G>A
-
-
KCNJ2_000017
M1
PubMed: Kimura 2012
-
-
Unknown
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Kimura 2012
cardiac abnormalities
F
?
Japan
-
>46y
-
-
-
1
Ikuko Takeda
+/.
-
c.245G>A
r.(?)
p.(Arg82Gln)
Unknown
ACMG
pathogenic (dominant)
g.68171425G>A
-
-
-
KCNJ2_000017
ACMG: PS3, PS4, PM2_SUP, PP1
PMID: 22806368, 16217063, 23644778, 22589293, 24861851, 23867365, 23516313, 16217063, 22589293
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
Andersen syndrome
179511
-
-
M
?
Germany
-
-
-
-
-
1
Andreas Laner
+/.
-
c.245G>A
r.(?)
p.(Arg82Gln)
Unknown
-
pathogenic
g.68171425G>A
-
KCNJ2(NM_000891.3):c.245G>A (p.R82Q)
-
KCNJ2_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.248G>T
r.(?)
p.(Trp83Leu)
Unknown
-
VUS
g.68171428G>T
g.70175287G>T
KCNJ2(NM_000891.3):c.248G>T (p.W83L)
-
KCNJ2_000074
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.277G>A
r.(?)
p.(Ile93Val)
Parent #1
-
pathogenic
g.68171457G>A
g.70175316G>A
-
-
KCNJ2_000018
M1
PubMed: Xia 2005
-
-
Germline
-
1/30 AF families
-
-
-
DNA
SEQ
-
-
ATFB9
-
PubMed: Xia 2005
cardiac abnormalities
M
?
China
Chinese
>59y
-
-
-
7
Ikuko Takeda
?/.
-
c.277G>A
r.(?)
p.(Val93Ile)
Parent #1
-
VUS
g.68171457G>A
g.70175316G>A
-
-
KCNJ2_000018
conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs147750704
Germline
-
9/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
9
Mohammed Faruq
-?/.
-
c.277G>A
r.(?)
p.(Val93Ile)
Unknown
-
likely benign
g.68171457G>A
-
KCNJ2(NM_000891.2):c.277G>A (p.(Val93Ile))
-
KCNJ2_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/?
2
c.281T>C
r.(?)
p.(Leu94Pro)
Both (homozygous)
-
likely pathogenic
g.68171461T>C
g.70175320T>C
-
-
KCNJ2_000001
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
-
-
M
?
Japan
Asian
>63y
-
-
-
1
Ikuko Takeda
+/?
2
c.301T>C
r.(?)
p.(Cys101Arg)
Parent #1
-
pathogenic
g.68171481T>C
g.70175340T>C
-
-
KCNJ2_000020
M1, lipid-facing
PubMed: Chun 2004
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Chun 2004
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
-
>16y
-
-
-
1
Ikuko Takeda
+/?
2
c.301T>C
r.(?)
p.(Cys101Arg)
Parent #1
-
pathogenic
g.68171481T>C
g.70175340T>C
-
-
KCNJ2_000020
M1, lipid-facing
PubMed: Zhang 2005
PubMed: Ballester 2006
-
-
Unknown
-
-
-
-
-
DNA
?
-
-
Andersen syndrome
-
PubMed: Zhang 2005
PubMed: Ballester 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
?
?
United States
-
-
-
-
-
1
Ikuko Takeda
+?/?
2
c.368T>G
r.(?)
p.(Val123Gly)
Parent #1
-
likely pathogenic
g.68171548T>G
g.70175407T>G
-
-
KCNJ2_000021
pore region
PubMed: Davies 2005
-
-
Unknown
-
1/>140 periodic paralysis
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Davies 2005
periodic paralysis / dysmorphic features / he was one of twins.
M
?
United Kingdom (Great Britain)
-
>18y
-
-
-
1
Ikuko Takeda
+/?
2
c.407C>T
r.(?)
p.(Ser136Phe)
Parent #1
-
pathogenic
g.68171587C>T
g.70175446C>T
-
-
KCNJ2_000022
pore helix
PubMed: Plaster 2001
-
-
Unknown
-
1/16 ATS families
-
-
-
DNA
PCRms
-
-
Andersen syndrome
-
PubMed: Plaster 2001
periodic paralysis / dysmorphic features / Kindred6634
F
?
United States
-
>45y
-
-
-
1
Ikuko Takeda
?/.
-
c.424A>G
r.(?)
p.(Thr142Ala)
Unknown
-
VUS
g.68171604A>G
-
-
-
KCNJ2_000102
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.430G>A
r.(?)
p.(Gly144Ser)
Parent #1
-
pathogenic
g.68171610G>A
g.70175469G>A
-
-
KCNJ2_000023
G-loop in cytoplasmic, pore region, selectivity filter residues GYG
PubMed: Plaster 2001
-
-
De novo
-
1/16 ATS families
-
-
-
DNA
SSCA
-
-
Andersen syndrome
-
PubMed: Plaster 2001
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred3856
F
?
United States
-
>23y
-
-
-
1
Ikuko Takeda
+/?
2
c.430G>A
r.(?)
p.(Gly144Ser)
Parent #1
-
pathogenic
g.68171610G>A
g.70175469G>A
-
-
KCNJ2_000023
G-loop in cytoplasmic, pore region, selectivity filter residues GYG, heterozygous for a KCNQ1 mutation (c.1022C>T
PubMed: Haruna 2007
-
-
Germline
-
-
-
-
-
DNA
SSCA, DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 024, his son had seizure, KCNQ1(A341V)
F
?
Japan
Japanese
>44y
-
-
-
2
Ikuko Takeda
+?/.
2
c.430G>A
r.(?)
p.(Gly144Ser)
Unknown
ACMG
pathogenic (dominant)
g.68171610G>A
g.70175469G>A
-
-
KCNJ2_000023
ACMG: PS4_MOD, PM5, PP3_MOD, PS2_SUP, PS3_SUP, PM2_SUP, PP2
PMID: 11371347, 12163457, 12909315, 14522976, 22002906
VCV000067573.6
-
Germline
?
-
LanerMGZ
-
-
DNA
SEQ-NG-I
Blood
-
Andersen syndrome
291345
-
-
M
no
Germany
-
-
-
-
-
1
Andreas Laner
+/?
2
c.431G>A
r.(?)
p.(Gly144Asp)
Parent #1
-
pathogenic
g.68171611G>A
g.70175470G>A
-
-
KCNJ2_000024
G-loop in cytoplasmic, pore region, selectivity filter residues GYG
PubMed: Kimura 2012
-
-
Unknown
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Kimura 2012
cardiac abnormalities
F
?
Japan
-
>3y
-
-
-
1
Ikuko Takeda
+/?
2
c.431G>A
r.(?)
p.(Gly144Asp)
Parent #1
-
pathogenic
g.68171611G>A
g.70175470G>A
-
-
KCNJ2_000024
G-loop in cytoplasmic, pore region, selectivity filter residues GYG
PubMed: Lim 2010
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Lim 2010
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
Korea
-
>18y
-
-
-
1
Ikuko Takeda
+/?
2
c.431G>C
r.(?)
p.(Gly144Ala)
Parent #1
-
pathogenic
g.68171611G>C
g.70175470G>C
-
-
KCNJ2_000025
G-loop in cytoplasmic, pore region, selectivity filter residues GYG
PubMed: Ballester 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ, ARMS
-
-
Andersen syndrome
-
PubMed: Ballester 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
France
Hispanic
>9y
-
-
-
2
Ikuko Takeda
+/?
2
c.436G>A
r.(?)
p.(Gly146Ser)
Parent #1
-
pathogenic
g.68171616G>A
g.70175475G>A
-
-
KCNJ2_000026
G-loop in cytoplasmic, pore region, selectivity filter residues GYG, trafficking defect, dominat negative effect
PubMed: Haruna 2007
-
-
De novo
-
-
-
-
-
DNA
SSCA, DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / Knidred 179
F
?
Japan
Japanese
>28y
-
-
-
1
Ikuko Takeda
?/?
2
c.437G>A
r.(?)
p.(Gly146Asp)
Parent #1
-
VUS
g.68171617G>A
g.70175476G>A
-
-
KCNJ2_000027
G-loop in cytoplasmic, pore region, selectivity filter residues GYG
PubMed: Yoon 2006
-
-
Germline
-
-
-
-
-
?
?
-
-
Andersen syndrome
-
PubMed: Yoon 2006
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United States
white
>29y
-
-
-
3
Ikuko Takeda
?/?
2
c.437G>A
r.(?)
p.(Gly146Asp)
Parent #1
-
VUS
g.68171617G>A
g.70175476G>A
-
-
KCNJ2_000027
G-loop in cytoplasmic, pore region, selectivity filter residues GYG
PubMed: Donaldson 2003
-
-
Germline
-
1/17 ATS probands
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Donaldson 2003
dysmorphic features / Kindred8472
F
?
United States
-
-
-
-
-
3
Ikuko Takeda
?/?
2
c.437G>C
r.(?)
p.(Gly146Ala)
Parent #1
-
VUS
g.68171617G>C
g.70175476G>C
-
-
KCNJ2_000028
G-loop in cytoplasmic, pore region, selectivity filter residues GYG, trafficking defect, dominat negative effect
PubMed: Kim 2009
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Kim 2009
periodic paralysis / dysmorphic features
M
?
Korea
Korean
>18y
-
-
-
1
Ikuko Takeda
+?/?
2
c.461G>A
r.(?)
p.(Cys154Tyr)
Parent #1
-
likely pathogenic
g.68171641G>A
g.70175500G>A
-
-
KCNJ2_000029
M2, C154 and C122 critical for proper channel folding
PubMed: Sacconi 2009
-
-
Germline
-
-
-
-
-
?
?
-
-
Andersen syndrome
-
PubMed: Sacconi 2009
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
France
-
>31y
-
-
-
3
Ikuko Takeda
+?/?
2
c.461G>T
r.(?)
p.(Cys154Phe)
Parent #1
-
likely pathogenic
g.68171641G>T
g.70175500G>T
-
-
KCNJ2_000030
M2, C154 and C122 critical for proper channel folding
PubMed: Bendahhou 2005
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Bendahhou 2005
periodic paralysis / dysmorphic features
M
?
France
-
>27y
-
-
-
1
Ikuko Takeda
?/.
-
c.476T>C
r.(?)
p.(Phe159Ser)
Unknown
-
VUS
g.68171656T>C
g.70175515T>C
KCNJ2(NM_000891.3):c.476T>C (p.(Phe159Ser))
-
KCNJ2_000089
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.476T>C
r.(?)
p.(Phe159Ser)
Unknown
-
VUS
g.68171656T>C
-
KCNJ2(NM_000891.3):c.476T>C (p.(Phe159Ser))
-
KCNJ2_000089
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.488_493del
r.(?)
p.(Phe163_Gln164del)
Parent #1
-
pathogenic
g.68171668_68171673del
g.70175527_70175532del
-
-
KCNJ2_000031
M2, 164; buried residue
PubMed: Fodstad 2004
-
-
De novo
-
1/188 LQT patients
-
-
-
DNA
DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Fodstad 2004
cardiac abnormalities
F
?
Finland
-
>40y
-
-
-
2
Ikuko Takeda
-?/.
-
c.498C>T
r.(?)
p.(Ile166=)
Unknown
-
likely benign
g.68171678C>T
-
KCNJ2(NM_000891.2):c.498C>T (p.I166=)
-
KCNJ2_000103
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.514G>A
r.(?)
p.(Asp172Asn)
Parent #1
-
pathogenic
g.68171694G>A
g.70175553G>A
-
-
KCNJ2_000032
M2, pore-lining, control of polyamine-mediated channel gating, rectification
PubMed: Priori 2005
PubMed: El Harchi 2009
-
-
Germline
-
-
-
-
-
DNA
DHPLC
-
-
SQT3
-
PubMed: Priori 2005
PubMed: El Harchi 2009
cardiac abnormalities
F
?
Italy
-
>5y
-
-
-
2
Ikuko Takeda
?/.
2
c.532G>A
r.(?)
p.(Ala178Thr)
Parent #1
-
VUS
g.68171712G>A
g.70175571G>A
-
-
KCNJ2_000070
-
PubMed: Allegue 2015
,
Journal: Allegue 2015
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-S
-
-
BRGDA
-
PubMed: Allegue 2015
,
Journal: Allegue 2015
-
M
-
United States
white
>66y
-
-
-
1
Anna Iglesias
+/?
2
c.557C>T
r.(?)
p.(Pro186Leu)
Parent #1
-
pathogenic
g.68171737C>T
g.70175596C>T
-
-
KCNJ2_000033
cytoplasmic, PKKR motif (186-189) implicated in binding PIP2
PubMed: Tristani 2002
-
-
Unknown
-
-
-
-
-
DNA
SSCA, PCRms
-
-
Andersen syndrome
-
PubMed: Tristani 2002
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred 7246
M
?
United States
-
>18y
-
-
-
2
Ikuko Takeda
?/?
2
c.566G>T
r.(?)
p.(Arg189Ile)
Parent #1
-
VUS
g.68171746G>T
g.70175605G>T
-
-
KCNJ2_000034
cytoplasmic, PKKR motif, PIP2 binding
PubMed: Donaldson, 2003
-
-
Germline
-
1/17 ATS probands
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Donaldson, 2003
cardiac abnormalities / periodic paralysis / dysmorphic features / Kindred7862
F
?
United States
-
-
-
-
-
2
Ikuko Takeda
+/?
2
c.574A>G
r.(?)
p.(Thr192Ala)
Parent #1
-
pathogenic
g.68171754A>G
g.70175613A>G
-
-
KCNJ2_000035
phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain
PubMed: Ai 2002
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
Andersen syndrome
-
PubMed: Ai 2002
cardiac abnormalities / periodic paralysis
M
?
Japan
Japanese
>13y
-
-
-
4
Ikuko Takeda
+/?
2
c.574A>G
r.(?)
p.(Thr192Ala)
Parent #1
-
pathogenic
g.68171754A>G
g.70175613A>G
-
-
KCNJ2_000035
phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain
PubMed: Haruna 2007
-
-
Germline
-
-
-
-
-
DNA
SSCA, DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / Kindred 037
M
?
Japan
Japanese
>13y
-
-
-
2
Ikuko Takeda
+/?
2
c.574A>G
r.(?)
p.(Thr192Ala)
Parent #1
-
pathogenic
g.68171754A>G
g.70175613A>G
-
-
KCNJ2_000035
phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain
PubMed: Nagase 2007
-
-
Unknown
-
-
-
-
-
DNA
SSCA
-
-
Andersen syndrome
-
PubMed: Nagase 2007
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
Japan
Japanese
>19y
-
-
-
3
Ikuko Takeda
+/?
2
c.574A>G
r.(?)
p.(Thr192Ala)
Parent #1
-
pathogenic
g.68171754A>G
g.70175613A>G
-
-
KCNJ2_000035
phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain
PubMed: Nagashima 2010
-
-
Unknown
-
-
-
-
-
?
?
-
-
Andersen syndrome
-
PubMed: Nagashima 2010
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
Japan
Japanese
>23y
-
-
-
1
Ikuko Takeda
?/?
2
c.575C>T
r.(?)
p.(Thr192Ile)
Parent #1
-
VUS
g.68171755C>T
g.70175614C>T
-
-
KCNJ2_000036
phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain
PubMed: Chan 2010
-
-
Germline
-
-
-
-
-
DNA
?
-
-
Andersen syndrome
-
PubMed: Chan 2010
periodic paralysis / dysmorphic features
F
?
Taiwan
Taiwanese
>35y
-
-
-
3
Ikuko Takeda
-?/.
-
c.597C>T
r.(?)
p.(Ala199=)
Unknown
-
likely benign
g.68171777C>T
g.70175636C>T
-
-
KCNJ2_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.602T>A
r.(?)
p.(Ile201Asn)
Unknown
-
likely pathogenic
g.68171782T>A
-
KCNJ2(NM_000891.3):c.602T>A (p.I201N)
-
KCNJ2_000100
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.616G>A
r.(?)
p.(Gly206Ser)
Unknown
-
VUS
g.68171796G>A
g.70175655G>A
-
-
KCNJ2_000082
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.631A>C
r.(?)
p.(Met211Leu)
Unknown
-
VUS
g.68171811A>C
g.70175670A>C
KCNJ2(NM_000891.3):c.631A>C (p.M211L)
-
KCNJ2_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.644G>A
r.(?)
p.(Gly215Asp)
Parent #1
-
pathogenic
g.68171824G>A
g.70175683G>A
-
-
KCNJ2_000037
C-terminus, essential for the aassembly of Kir2.1
PubMed: Hosaka 2003
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Hosaka 2003
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
Japan
Japanese
>34y
-
-
-
1
Ikuko Takeda
+/?
2
c.644G>A
r.(?)
p.(Gly215Asp)
Parent #1
-
pathogenic
g.68171824G>A
g.70175683G>A
-
-
KCNJ2_000037
C-terminus, essential for the aassembly of Kir2.1
PubMed: Haruna 2007
-
-
Unknown
-
-
-
-
-
DNA
SSCA, DHPLC, SEQ
-
-
Andersen syndrome
-
PubMed: Haruna 2007
cardiac abnormalities / periodic paralysis / dysmorphic features / N-01
F
?
Japan
Japanese
34y
-
-
-
1
Ikuko Takeda
+/?
2
c.644G>A
r.(?)
p.(Gly215Asp)
Parent #1
-
pathogenic
g.68171824G>A
g.70175683G>A
-
-
KCNJ2_000037
C-terminus, essential for the aassembly of Kir2.1
PubMed: Lim 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Lim 2010
cardiac abnormalities / periodic paralysis / dysmorphic features
M
?
Korea
-
>11y
-
-
-
3
Ikuko Takeda
+/?
2
c.646A>C
r.(?)
p.(Asn216His)
Parent #1
-
pathogenic
g.68171826A>C
g.70175685A>C
-
-
KCNJ2_000038
CD loop of cytosolic domain, affect the sensitivity to cholesterol
PubMed: Tristani 2002
-
-
Unknown
-
-
-
-
-
DNA
SSCA, PCRms
-
-
Andersen syndrome
-
PubMed: Tristani 2002
cardiac abnormalities / Kindred 3442
F
?
United States
-
>21y
-
-
-
6
Ikuko Takeda
+?/.
-
c.647A>G
r.(?)
p.(Asn216Ser)
Unknown
-
likely pathogenic
g.68171827A>G
-
KCNJ2(NM_000891.3):c.647A>G (p.N216S)
-
KCNJ2_000106
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/?
2
c.650T>C
r.(?)
p.(Leu217Pro)
Parent #1
-
pathogenic
g.68171830T>C
g.70175689T>C
-
-
KCNJ2_000039
cytoplasmic
PubMed: Davies 2005
-
-
Unknown
-
1/>140 periodic paralysis
-
-
-
DNA
SEQ
-
-
Andersen syndrome
-
PubMed: Davies 2005
cardiac abnormalities / periodic paralysis / dysmorphic features
F
?
United Kingdom (Great Britain)
-
>32y
-
-
-
1
Ikuko Takeda
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