Global Variome shared LOVD
KCNJ2 (potassium inwardly-rectifying channel, subfa...)
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Unique variants in the KCNJ2 gene
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.
Reported
: The number of times this variant has been reported in the database.
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
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%)
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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106 entries on 2 pages. Showing entries 1 - 100.
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Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
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
Owner
-?/.
1
-
c.-158_-157insGTAGTCAGA
r.(?)
p.(=)
-
likely benign
g.68171023_68171024insGTAGTCAGA
g.70174882_70174883insGTAGTCAGA
-
-
KCNJ2_000078
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.-2C>T
r.(?)
p.(=)
-
likely benign
g.68171179C>T
g.70175038C>T
KCNJ2(NM_000891.3):c.-2C>T
-
KCNJ2_000079
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/?
1
2
c.283-_294+del
r.(?)
p.(Ser95_Phe98del)
-
pathogenic
g.?
-
-
-
KCNJ2_000019
M1, buried residue, scatterd cytoplasmic pattern (degraede proteins or channel mistrafficking)
PubMed: Plaster 2001
-
-
Germline
-
1/16 ATS families
-
-
-
Ikuko Takeda
+/?
1
2
c.940-_945+del
r.(?)
p.(Ser314_Tyr315del)
-
pathogenic
g.?
-
-
-
KCNJ2_000059
1 more item
PubMed: Yoon 2006
PubMed: Plaster 2001
-
-
De novo
-
1/16 ATS families
-
-
-
Ikuko Takeda
?/.
1
-
c.22C>T
r.(?)
p.(Arg8Cys)
-
VUS
g.68171202C>T
-
KCNJ2(NM_000891.2):c.22C>T (p.(Arg8Cys))
-
KCNJ2_000110
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/.
1
-
c.97G>C
r.(?)
p.(Gly33Arg)
-
VUS
g.68171277G>C
-
KCNJ2(NM_000891.2):c.97G>C (p.G33R)
-
KCNJ2_000108
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
?/?
1
2
c.118C>T
r.(?)
p.(Arg40*)
-
VUS
g.68171298C>T
g.70175157C>T
-
-
KCNJ2_000002
cytoplamic, N-terminus
PubMed: Kuramoto 2012
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
?/.
1
-
c.128G>A
r.(?)
p.(Cys43Tyr)
-
VUS
g.68171308G>A
-
KCNJ2(NM_000891.3):c.128G>A (p.C43Y)
-
KCNJ2_000112
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
-
c.146A>G
r.(?)
p.(Lys49Arg)
-
VUS
g.68171326A>G
g.70175185A>G
-
-
KCNJ2_000080
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/?
1
2
c.161G>T
r.(?)
p.(Cys54Phe)
-
pathogenic
g.68171341G>T
g.70175200G>T
-
-
KCNJ2_000003
cytoplasmic
PubMed: Bendahhou 2007
-
-
Germline
-
-
-
-
-
Ikuko Takeda
-/.
1
-
c.174C>T
r.(?)
p.(Phe58=)
-
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
-
-
-
-
-
VKGL-NL_AMC
+/., +/?
8
2
c.199C>T
r.(?)
p.(Arg67Trp)
-
pathogenic
g.68171379C>T
g.70175238C>T
KCNJ2(NM_000891.2):c.199C>T (p.(Arg67Trp))
-
KCNJ2_000004
KJ-01, PIP2 binding, cytoplasmic, PIP2 binding, cytoplasmic, VKGL data sharing initiative Nederland
PubMed: Andelfinger 2002
,
PubMed: Davies 2005
,
PubMed: Donaldson 2003
,
PubMed: Haruna 2007
,
1 more item
-
-
CLASSIFICATION record, De novo, Germline, Unknown
-
2/17 ATS probands, 2/>140 periodic paralysis, 41/77 in the family
-
-
-
VKGL-NL_Leiden
,
Ikuko Takeda
+/?, +?/., +?/?
3
2
c.200G>A
r.(?)
p.(Arg67Gln)
-
likely pathogenic, pathogenic
g.68171380G>A
g.70175239G>A
-
-
KCNJ2_000005
Kindred 323, PIP2 binding, trafficking defect, dominant negative effect,
2 more items
PubMed: Eckhardt 2007
,
PubMed: Haruna 2007
-
-
CLASSIFICATION record, Germline, Unknown
-
1/541 patients*
-
-
-
VKGL-NL_Nijmegen
,
Ikuko Takeda
+?/?
1
2
c.202T>G
r.(?)
p.(Tyr68Asp)
-
likely pathogenic
g.68171382T>G
g.70175241T>G
-
-
KCNJ2_000006
cytoplasmic, slide helix
PubMed: Davies 2005
-
-
Germline
-
1/>140 periodic paralysis
-
-
-
Ikuko Takeda
?/.
2
-
c.208G>T
r.(?)
p.(Ala70Ser)
-
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
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_AMC
?/?
1
2
c.211G>A
r.(?)
p.(Asp71Asn)
-
VUS
g.68171391G>A
g.70175250G>A
-
-
KCNJ2_000007
cytoplasmic, slide helix
PubMed: Donaldson 2003
-
-
De novo
-
1/17 ATS probands
-
-
-
Ikuko Takeda
+/?
1
2
c.211G>T
r.(?)
p.(Asp71Tyr)
-
pathogenic
g.68171391G>T
g.70175250G>T
-
-
KCNJ2_000008
cytoplasmic, slide helix
PubMed: Marrus 2011
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
+/?
1
2
c.212A>T
r.(?)
p.(Asp71Val)
-
pathogenic
g.68171392A>T
g.70175251A>T
-
-
KCNJ2_000009
cytoplasmic, slide helix, dominant negative
PubMed: Plaster 2001
-
-
Germline
-
1/16 ATS families
-
-
-
Ikuko Takeda
?/.
1
-
c.213C>A
r.(?)
p.(Asp71Glu)
-
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
-
-
-
-
-
VKGL-NL_AMC
-/., -?/.
2
-
c.213C>T
r.(?)
p.(Asp71=)
-
benign, 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
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_AMC
+/?
1
2
c.220A>G
r.(?)
p.(Thr74Ala)
-
pathogenic
g.68171400A>G
g.70175259A>G
-
-
KCNJ2_000010
slide helix, channel gating, PIP2 sensitivity
PubMed: Ballester 2006
-
-
Germline
-
-
-
-
-
Ikuko Takeda
+/?
1
2
c.223A>G
r.(?)
p.(Thr75Ala)
-
pathogenic
g.68171403A>G
g.70175262A>G
-
-
KCNJ2_000011
cytoplasmic, slide helix, dominant negative effect
PubMed: Fodstad 2004
-
-
Germline
-
1/188 LQT patients
-
-
-
Ikuko Takeda
+/., +/?
4
2
c.224C>G
r.(?)
p.(Thr75Arg)
-
pathogenic
g.68171404C>G
g.70175263C>G
-
-
KCNJ2_000012
cytoplasmic, slide helix, VKGL data sharing initiative Nederland
PubMed: Donaldson 2003
,
PubMed: Lu 2006
,
PubMed: Yoon 2006
-
-
CLASSIFICATION record, De novo, Germline, Unknown
-
1/17 ATS probands
-
-
-
VKGL-NL_Nijmegen
,
Ikuko Takeda
+/., +/?
4
2
c.224C>T
r.(?)
p.(Thr75Met), p.(Thy75Met)
-
pathogenic
g.68171404C>T
g.70175263C>T
KCNJ2(NM_000891.3):c.224C>T (p.T75M)
-
KCNJ2_000013
cytoplasmic region, slide helix, N-terminus, defective tafficking, no dominant negative effect,
3 more items
PubMed: Davies 2005
,
PubMed: Eckhardt 2007
,
PubMed: Tani 2007
-
-
CLASSIFICATION record, Germline, Unknown
-
1/541 patients*, 1/>140 periodic paralysis
-
-
-
VKGL-NL_AMC
,
Ikuko Takeda
+/.
1
-
c.230T>A
r.(?)
p.(Val77Glu)
-
likely pathogenic (dominant)
g.68171410T>A
g.70175269T>A
-
-
KCNJ2_000095
de novo in patient
Handklo-Jamal, submitted 2019
-
-
De novo
yes
-
-
-
-
Shimrit Oz
?/?
1
2
c.232G>T
r.(?)
p.(Asp78Tyr)
-
VUS
g.68171412G>T
g.70175271G>T
-
-
KCNJ2_000014
cytoplasmic, slide helix
PubMed: Yoon 2006
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
+/?
1
2
c.233A>G
r.(?)
p.(Asp78Gly)
-
pathogenic
g.68171413A>G
g.70175272A>G
-
-
KCNJ2_000015
cytoplasmic, slide helix
PubMed: Davies 2005
-
-
Unknown
-
1/>140 periodic paralysis
-
-
-
Ikuko Takeda
+/., +/?, +?/.
7
2
c.244C>T
r.(?)
p.(Arg82Trp)
-
likely pathogenic, pathogenic
g.68171424C>T
g.70175283C>T
-
-
KCNJ2_000016
2 heterozygous, no homozygous;
Clinindb (India)
, M1, M1, KCNH2 P1093L,
3 more items
Fusco 2042, submitted,
PubMed: Eckhardt 2007
,
PubMed: Kimura 2012
,
PubMed: Kuramoto 2012
,
2 more items
67568
rs199473373
Germline, Unknown
-
1/541 patients*, 2/2795 individuals, 2/541 patients*
-
-
-
Carmela Fusco
,
Ikuko Takeda
,
Mohammed Faruq
+/., +/?
4
2
c.245G>A
r.(?)
p.(Arg82Gln)
ACMG
pathogenic, pathogenic (dominant)
g.68171425G>A
g.70175284G>A
KCNJ2(NM_000891.3):c.245G>A (p.R82Q)
-
KCNJ2_000017
ACMG: PS3, PS4, PM2_SUP, PP1, M1, VKGL data sharing initiative Nederland
PMID: 22806368, 16217063, 23644778, 22589293, 24861851, 23867365, 23516313, 16217063, 22589293,
2 more items
-
-
CLASSIFICATION record, Germline, Unknown
?
1/>140 periodic paralysis
-
-
-
Andreas Laner
,
VKGL-NL_AMC
,
Ikuko Takeda
?/.
1
-
c.248G>T
r.(?)
p.(Trp83Leu)
-
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
-
-
-
-
-
VKGL-NL_AMC
+/?, -?/., ?/.
3
2
c.277G>A
r.(?)
p.(Ile93Val), p.(Val93Ile)
-
likely benign, pathogenic, VUS
g.68171457G>A
g.70175316G>A
KCNJ2(NM_000891.2):c.277G>A (p.(Val93Ile))
-
KCNJ2_000018
conflicting interpretations of pathogenicity; 9 heterozygous, no homozygous;
Clinindb (India)
, M1,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
,
PubMed: Xia 2005
-
rs147750704
CLASSIFICATION record, Germline
-
1/30 AF families, 9/2795 individuals
-
-
-
VKGL-NL_Leiden
,
Ikuko Takeda
,
Mohammed Faruq
+?/?
1
2
c.281T>C
r.(?)
p.(Leu94Pro)
-
likely pathogenic
g.68171461T>C
g.70175320T>C
-
-
KCNJ2_000001
-
-
-
-
Germline
-
-
-
-
-
Ikuko Takeda
+/?
2
2
c.301T>C
r.(?)
p.(Cys101Arg)
-
pathogenic
g.68171481T>C
g.70175340T>C
-
-
KCNJ2_000020
M1, lipid-facing
PubMed: Chun 2004
,
PubMed: Zhang 2005
PubMed: Ballester 2006
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
+?/?
1
2
c.368T>G
r.(?)
p.(Val123Gly)
-
likely pathogenic
g.68171548T>G
g.70175407T>G
-
-
KCNJ2_000021
pore region
PubMed: Davies 2005
-
-
Unknown
-
1/>140 periodic paralysis
-
-
-
Ikuko Takeda
+/?
1
2
c.407C>T
r.(?)
p.(Ser136Phe)
-
pathogenic
g.68171587C>T
g.70175446C>T
-
-
KCNJ2_000022
pore helix
PubMed: Plaster 2001
-
-
Unknown
-
1/16 ATS families
-
-
-
Ikuko Takeda
?/.
1
-
c.424A>G
r.(?)
p.(Thr142Ala)
-
VUS
g.68171604A>G
-
-
-
KCNJ2_000102
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/?, +?/.
3
2
c.430G>A
r.(?)
p.(Gly144Ser)
ACMG
pathogenic, pathogenic (dominant)
g.68171610G>A
g.70175469G>A
-
-
KCNJ2_000023
ACMG: PS4_MOD, PM5, PP3_MOD, PS2_SUP, PS3_SUP, PM2_SUP, PP2,
2 more items
PMID: 11371347, 12163457, 12909315, 14522976, 22002906,
PubMed: Haruna 2007
,
PubMed: Plaster 2001
VCV000067573.6
-
De novo, Germline
?
1/16 ATS families
LanerMGZ
-
-
Andreas Laner
,
Ikuko Takeda
+/?
2
2
c.431G>A
r.(?)
p.(Gly144Asp)
-
pathogenic
g.68171611G>A
g.70175470G>A
-
-
KCNJ2_000024
G-loop in cytoplasmic, pore region, selectivity filter residues GYG
PubMed: Kimura 2012
,
PubMed: Lim 2010
-
-
De novo, Unknown
-
-
-
-
-
Ikuko Takeda
+/?
1
2
c.431G>C
r.(?)
p.(Gly144Ala)
-
pathogenic
g.68171611G>C
g.70175470G>C
-
-
KCNJ2_000025
G-loop in cytoplasmic, pore region, selectivity filter residues GYG
PubMed: Ballester 2006
-
-
Germline
-
-
-
-
-
Ikuko Takeda
+/?
1
2
c.436G>A
r.(?)
p.(Gly146Ser)
-
pathogenic
g.68171616G>A
g.70175475G>A
-
-
KCNJ2_000026
1 more item
PubMed: Haruna 2007
-
-
De novo
-
-
-
-
-
Ikuko Takeda
?/?
2
2
c.437G>A
r.(?)
p.(Gly146Asp)
-
VUS
g.68171617G>A
g.70175476G>A
-
-
KCNJ2_000027
G-loop in cytoplasmic, pore region, selectivity filter residues GYG
PubMed: Donaldson 2003
,
PubMed: Yoon 2006
-
-
Germline
-
1/17 ATS probands
-
-
-
Ikuko Takeda
?/?
1
2
c.437G>C
r.(?)
p.(Gly146Ala)
-
VUS
g.68171617G>C
g.70175476G>C
-
-
KCNJ2_000028
1 more item
PubMed: Kim 2009
-
-
De novo
-
-
-
-
-
Ikuko Takeda
+?/?
1
2
c.461G>A
r.(?)
p.(Cys154Tyr)
-
likely pathogenic
g.68171641G>A
g.70175500G>A
-
-
KCNJ2_000029
M2, C154 and C122 critical for proper channel folding
PubMed: Sacconi 2009
-
-
Germline
-
-
-
-
-
Ikuko Takeda
+?/?
1
2
c.461G>T
r.(?)
p.(Cys154Phe)
-
likely pathogenic
g.68171641G>T
g.70175500G>T
-
-
KCNJ2_000030
M2, C154 and C122 critical for proper channel folding
PubMed: Bendahhou 2005
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
?/.
2
-
c.476T>C
r.(?)
p.(Phe159Ser)
-
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
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Nijmegen
+/?
1
2
c.488_493del
r.(?)
p.(Phe163_Gln164del)
-
pathogenic
g.68171668_68171673del
g.70175527_70175532del
-
-
KCNJ2_000031
M2, 164; buried residue
PubMed: Fodstad 2004
-
-
De novo
-
1/188 LQT patients
-
-
-
Ikuko Takeda
-?/.
1
-
c.498C>T
r.(?)
p.(Ile166=)
-
likely benign
g.68171678C>T
-
KCNJ2(NM_000891.2):c.498C>T (p.I166=)
-
KCNJ2_000103
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+/?
1
2
c.514G>A
r.(?)
p.(Asp172Asn)
-
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
-
-
-
-
-
Ikuko Takeda
?/.
1
2
c.532G>A
r.(?)
p.(Ala178Thr)
-
VUS
g.68171712G>A
g.70175571G>A
-
-
KCNJ2_000070
-
PubMed: Allegue 2015
,
Journal: Allegue 2015
-
-
Germline
yes
-
-
-
-
Anna Iglesias
+/?
1
2
c.557C>T
r.(?)
p.(Pro186Leu)
-
pathogenic
g.68171737C>T
g.70175596C>T
-
-
KCNJ2_000033
cytoplasmic, PKKR motif (186-189) implicated in binding PIP2
PubMed: Tristani 2002
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
?/?
1
2
c.566G>T
r.(?)
p.(Arg189Ile)
-
VUS
g.68171746G>T
g.70175605G>T
-
-
KCNJ2_000034
cytoplasmic, PKKR motif, PIP2 binding
PubMed: Donaldson, 2003
-
-
Germline
-
1/17 ATS probands
-
-
-
Ikuko Takeda
+/?
4
2
c.574A>G
r.(?)
p.(Thr192Ala)
-
pathogenic
g.68171754A>G
g.70175613A>G
-
-
KCNJ2_000035
phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain
PubMed: Ai 2002
,
PubMed: Haruna 2007
,
PubMed: Nagase 2007
,
PubMed: Nagashima 2010
-
-
Germline, Unknown
-
-
-
-
-
Ikuko Takeda
?/?
1
2
c.575C>T
r.(?)
p.(Thr192Ile)
-
VUS
g.68171755C>T
g.70175614C>T
-
-
KCNJ2_000036
phosphatidylinositol-4,5-bisphosphate (PIP2)–binding domain
PubMed: Chan 2010
-
-
Germline
-
-
-
-
-
Ikuko Takeda
-?/.
1
-
c.597C>T
r.(?)
p.(Ala199=)
-
likely benign
g.68171777C>T
g.70175636C>T
-
-
KCNJ2_000090
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+?/.
1
-
c.602T>A
r.(?)
p.(Ile201Asn)
-
likely pathogenic
g.68171782T>A
-
KCNJ2(NM_000891.3):c.602T>A (p.I201N)
-
KCNJ2_000100
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
-
c.616G>A
r.(?)
p.(Gly206Ser)
-
VUS
g.68171796G>A
g.70175655G>A
-
-
KCNJ2_000082
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
1
-
c.631A>C
r.(?)
p.(Met211Leu)
-
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
-
-
-
-
-
VKGL-NL_Groningen
+/?
3
2
c.644G>A
r.(?)
p.(Gly215Asp)
-
pathogenic
g.68171824G>A
g.70175683G>A
-
-
KCNJ2_000037
C-terminus, essential for the aassembly of Kir2.1
PubMed: Haruna 2007
,
PubMed: Hosaka 2003
,
PubMed: Lim 2010
-
-
Germline, Unknown
-
-
-
-
-
Ikuko Takeda
+/?
1
2
c.646A>C
r.(?)
p.(Asn216His)
-
pathogenic
g.68171826A>C
g.70175685A>C
-
-
KCNJ2_000038
CD loop of cytosolic domain, affect the sensitivity to cholesterol
PubMed: Tristani 2002
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
+?/.
1
-
c.647A>G
r.(?)
p.(Asn216Ser)
-
likely pathogenic
g.68171827A>G
-
KCNJ2(NM_000891.3):c.647A>G (p.N216S)
-
KCNJ2_000106
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
+/?
1
2
c.650T>C
r.(?)
p.(Leu217Pro)
-
pathogenic
g.68171830T>C
g.70175689T>C
-
-
KCNJ2_000039
cytoplasmic
PubMed: Davies 2005
-
-
Unknown
-
1/>140 periodic paralysis
-
-
-
Ikuko Takeda
+/., +/?
19
2
c.652C>T
r.(?)
p.(Arg218Trp)
ACMG
pathogenic, pathogenic (dominant)
g.68171832C>T
g.70175691C>T
KCNJ2(NM_000891.3):c.652C>T (p.R218W)
-
KCNJ2_000040
ACMG PM2, PM5, PP2, PP3, PP4, PP5, cytoplasmic, CD loop,PIP2 binding, interaction with Thr309,
6 more items
PubMed: Davies 2005
,
PubMed: Donaldson 2003
,
PubMed: Haruna 2007
,
PubMed: Lange 2003
PubMed: Yoon 2006
,
8 more items
-
rs104894578
CLASSIFICATION record, De novo, Germline, Unknown
-
1/17 ATS probands, 2/>140 periodic paralysis, 4/16 ATS families
-
-
-
Jan Traeger-Synodinos
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
,
Ikuko Takeda
+/., +/?
6
2
c.653G>A
r.(?)
p.(Arg218Gln)
-
pathogenic
g.68171833G>A
g.70175692G>A
KCNJ2(NM_000891.3):c.653G>A (p.R218Q)
-
KCNJ2_000041
cytoplasmic, CD loop, PIP2 binding, interaction with Thr309, VKGL data sharing initiative Nederland,
1 more item
PubMed: Choi 2007
,
PubMed: Haruna 2007
,
PubMed: Yoon 2006
PubMed: Plaster 2001
-
-
CLASSIFICATION record, De novo, Germline
-
1/16 ATS families
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
,
Ikuko Takeda
-/.
1
-
c.660C>T
r.(?)
p.(Ser220=)
-
benign
g.68171840C>T
g.70175699C>T
KCNJ2(NM_000891.3):c.660C>T (p.S220=)
-
KCNJ2_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/?
1
2
c.679G>T
r.(?)
p.(Val227Phe)
-
pathogenic
g.68171859G>T
g.70175718G>T
-
-
KCNJ2_000042
1 more item
PubMed: Tester 2006
-
-
Unknown
-
1/541 patients*
-
-
-
Ikuko Takeda
?/?
1
2
c.684_685ins30
r.(?)
p.(Arg228_Ala229insLysSerHisLeuValGluAlaHisValArg)
-
VUS
g.?
-
-
-
KCNJ2_000043
cytoplamic pore, C-terminus
PubMed: Kimura 2012
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
?/.
1
-
c.779G>A
r.(?)
p.(Arg260His)
-
VUS
g.68171959G>A
g.70175818G>A
-
-
KCNJ2_000083
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/?
1
2
c.779G>C
r.(?)
p.(Arg260Pro)
-
pathogenic
g.68171959G>C
g.70175818G>C
-
-
KCNJ2_000044
cytoplasmic, cytoplasmic pore
PubMed: Barajas 2011
-
-
De novo
-
-
-
-
-
Ikuko Takeda
-?/.
1
-
c.858C>T
r.(?)
p.(Asp286=)
-
likely benign
g.68172038C>T
-
KCNJ2(NM_000891.2):c.858C>T (p.D286=)
-
KCNJ2_000098
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+/?
1
2
c.896A>T
r.(?)
p.(Glu299Val)
-
pathogenic
g.68172076A>T
g.70175935A>T
-
-
KCNJ2_000045
cytoplasmic, control of polyamine-mediated channel gating, rectification
PubMed: Deo 2013
-
-
De novo
-
-
-
-
-
Ikuko Takeda
+/?
3
2
c.899G>A
r.(?)
p.(Gly300Asp)
-
pathogenic
g.68172079G>A
g.70175938G>A
-
-
KCNJ2_000046
cytoplasmic, pore-facing residue
PubMed: Bendahhou 2005
,
PubMed: Davies 2005
,
PubMed: Donaldson 2003
-
-
Germline
-
1/17 ATS probands, 1/>140 periodic paralysis
-
-
-
Ikuko Takeda
+/., +/?
6
2
c.899G>T
r.(?)
p.(Gly300Val)
-
pathogenic
g.68172079G>T
g.70175938G>T
-
-
KCNJ2_000047
1 homozygous;
Clinindb (India)
, cytoplasmic, pore-facing residue, no heterozygous ;
Clinindb (India)
PubMed: Haruna 2007
,
PubMed: Narang 2020
,
Journal: Narang 2020
,
PubMed: Plaster 2001
,
2 more items
-
rs104894579
Germline, Unknown
-
0/2795 individuals, 1/2795 individuals, 2/16 ATS families
-
-
-
Ikuko Takeda
,
Mohammed Faruq
+/?
1
2
c.902T>A
r.(?)
p.(Met301Lys)
-
pathogenic
g.68172082T>A
g.70175941T>A
-
-
KCNJ2_000048
cytoplasmic pore, G loop, cytoplasmic, C-terminus
PubMed: Hattori 2012
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
+/?
1
2
c.904G>A
r.(?)
p.(Val302Met)
-
pathogenic
g.68172084G>A
g.70175943G>A
-
-
KCNJ2_000049
G-loop in cytoplasmic, influence PIP2 gating, trafficking defect?
PubMed: Ma 2007
PubMed: Tristani-Firouz 2002
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
?/?
1
2
c.904G>A&c.238C>T
r.(?)
p.(Val302Met)&p.(Arg80Cys)
-
VUS
g.?
-
-
-
KCNJ2_000050
G-loop in cytoplasmic, influence PIP2 gating, trafficking defect?
PubMed: Kuramoto 2012
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
+/?
1
2
c.907G>A
r.(?)
p.(Glu303Lys)
-
pathogenic
g.68172087G>A
g.70175946G>A
-
-
KCNJ2_000051
G-loop in cytoplasmic
PubMed: Plaster 2001
PubMed: Lange 2003
-
-
Unknown
-
1/16 ATS families
-
-
-
Ikuko Takeda
+/?
1
2
c.913A>C
r.(?)
p.(Thr305Pro)
-
pathogenic
g.68172093A>C
g.70175952A>C
-
-
KCNJ2_000053
G-loop in cytoplasmic
PubMed: Bendahhou 2007
-
-
Germline
-
-
-
-
-
Ikuko Takeda
+/?
1
2
c.913A>G
r.(?)
p.(Thr305Ala)
-
pathogenic
g.68172093A>G
g.70175952A>G
-
-
KCNJ2_000052
1 more item
PubMed: Eckhardt 2007
-
-
Unknown
-
1/541 patients*
-
-
-
Ikuko Takeda
+/?
1
2
c.914C>G
r.(?)
p.(Thr305Ser)
-
pathogenic
g.68172094C>G
g.70175953C>G
-
-
KCNJ2_000054
G-loop in cytoplasmic, L382L (1146C>T)
PubMed: Kuramoto 2012
-
-
De novo
-
-
-
-
-
Ikuko Takeda
?/?
1
2
c.921G>A
r.(?)
p.(Met307Ile)
-
VUS
g.68172101G>A
g.70175960G>A
-
-
KCNJ2_000055
cytoplasmic, G loop
PubMed: Choi 2007
-
-
Germline
-
-
-
-
-
Ikuko Takeda
?/.
1
-
c.921G>C
r.(?)
p.(Met307Ile)
-
VUS
g.68172101G>C
g.70175960G>C
KCNJ2(NM_000891.2):c.921G>C (p.M307I)
-
KCNJ2_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/.
1
-
c.924G>A
r.(?)
p.(Thr308=)
-
benign
g.68172104G>A
g.70175963G>A
KCNJ2(NM_000891.3):c.924G>A (p.T308=)
-
KCNJ2_000097
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/?
2
2
c.926C>T
r.(?)
p.(Thr309Ile)
-
pathogenic
g.68172106C>T
g.70175965C>T
-
-
KCNJ2_000056
1 more item
PubMed: Bendahhou 2005
,
PubMed: Haruna 2007
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
?/?
1
2
c.934C>T
r.(?)
p.(Arg312Cys)
-
VUS
g.68172114C>T
g.70175973C>T
-
-
KCNJ2_000057
G-loop in cytoplasmic, PIP2 binding
PubMed: Donaldson 2003
-
-
Germline
-
1/17 ATS probands
-
-
-
Ikuko Takeda
+/., +?/?
3
2
c.935G>A
r.(?)
p.(Arg312His)
-
likely pathogenic, pathogenic
g.68172115G>A
g.70175974G>A
KCNJ2(NM_000891.3):c.935G>A (p.R312H), R312H
-
KCNJ2_000058
G-loop in cytoplasmic, PIP2 binding, VKGL data sharing initiative Nederland,
1 more item
PubMed: Fernandes 2022
,
PubMed: Sacconi 2009
-
-
CLASSIFICATION record, Germline, In vitro (cloned)
-
-
-
-
-
VKGL-NL_Groningen
,
Ikuko Takeda
,
Carlos Fernandes
-?/., ?/.
3
-
c.953A>G
r.(?)
p.(Asn318Ser)
-
likely benign, VUS
g.68172133A>G
g.70175992A>G
KCNJ2(NM_000891.3):c.953A>G (p.N318S)
-
KCNJ2_000077
variant definitively linked to disease, VKGL data sharing initiative Nederland
Fusco 2042, submitted
-
rs367560052
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
,
Carmela Fusco
?/.
3
-
c.973C>T
r.(?)
p.(Arg325Cys)
-
VUS
g.68172153C>T
g.70176012C>T
KCNJ2(NM_000891.3):c.973C>T (p.R325C)
-
KCNJ2_000071
1 heterozygous, no homozygous;
Clinindb (India)
, VKGL data sharing initiative Nederland
PubMed: Narang 2020
,
Journal: Narang 2020
,
PubMed: Sahlin 2019
,
Journal: Sahlin 2019
-
rs202067116
CLASSIFICATION record, Germline
?
1/2794 individuals
-
-
-
Ellika Sahlin
,
VKGL-NL_AMC
,
Mohammed Faruq
?/.
1
-
c.974G>A
r.(?)
p.(Arg325His)
-
VUS
g.68172154G>A
-
-
-
KCNJ2_000107
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/.
1
-
c.1035C>T
r.(?)
p.(His345=)
-
benign
g.68172215C>T
-
KCNJ2(NM_000891.3):c.1035C>T (p.H345=)
-
KCNJ2_000104
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
-
c.1039A>C
r.(?)
p.(Thr347Pro)
-
VUS
g.68172219A>C
g.70176078A>C
KCNJ2(NM_000891.2):c.1039A>C (p.T347P)
-
KCNJ2_000092
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
2
-
c.1045G>A
r.(?)
p.(Glu349Lys)
-
VUS
g.68172225G>A
g.70176084G>A
-
-
KCNJ2_000096
1 homozygous;
Clinindb (India)
, 5 heterozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs375330016
Germline
-
1/2788 individuals, 5/2788 individuals
-
-
-
Mohammed Faruq
-?/?
1
2
c.1051C>T
r.(?)
p.(Pro351Ser)
-
likely benign
g.68172231C>T
g.70176090C>T
-
-
KCNJ2_000060
cytoplasmic, carrier of c.1927G>A(p.G643S)(KCNQ1)
PubMed: Haruna 2007
-
-
Unknown
-
-
-
-
-
Ikuko Takeda
-/., -?/.
2
-
c.1065T>G
r.(?)
p.(Leu355=)
-
benign, likely benign
g.68172245T>G
-
KCNJ2(NM_000891.2):c.1065T>G (p.L355=), KCNJ2(NM_000891.3):c.1065T>G (p.L355=)
-
KCNJ2_000101
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_AMC
-?/.
1
-
c.1080C>T
r.(?)
p.(Asp360=)
-
likely benign
g.68172260C>T
g.70176119C>T
-
-
KCNJ2_000093
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/?
1
2
c.1106C>A
r.(?)
p.(Ser369*)
-
pathogenic
g.68172286C>A
g.70176145C>A
-
-
KCNJ2_000061
the ER export motif,
PubMed: Doi 2011
-
-
De novo
-
-
-
-
-
Ikuko Takeda
?/.
2
-
c.1106C>T
r.(?)
p.(Ser369Leu)
-
VUS
g.68172286C>T
g.70176145C>T
KCNJ2(NM_000891.3):c.1106C>T (p.S369L)
-
KCNJ2_000084
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
,
VKGL-NL_AMC
?/.
1
-
c.1120T>C
r.(?)
p.(Phe374Leu)
-
VUS
g.68172300T>C
-
KCNJ2(NM_000891.3):c.1120T>C (p.F374L)
-
KCNJ2_000111
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
-/., -?/?, ?/?
5
2
c.1146C>T
r.(?)
p.(Leu382=), silent (L382)
-
benign, likely benign, VUS
g.68172326C>T
g.70176185C>T
KCNJ2(NM_000891.2):c.1146C>T (p.L382=), KCNJ2(NM_000891.3):c.1146C>T (p.L382=)
-
KCNJ2_000062
M2, VKGL data sharing initiative Nederland
PubMed: Fodstad 2004
,
PubMed: Plaster 2001
-
-
CLASSIFICATION record, Unknown
-
35/188 LQT patients
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
,
Ikuko Takeda
-?/., ?/., ?/?
3
2
c.1199C>T
r.(?)
p.(Thr400Met)
-
likely benign, VUS
g.68172379C>T
g.70176238C>T
KCNJ2(NM_000891.2):c.1199C>T (p.(Thr400Met))
-
KCNJ2_000063
1 heterozygous, no homozygous;
Clinindb (India)
, cytoplasmic, C-terminus,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
,
PubMed: Obeyesekere 2011
-
rs144022753
CLASSIFICATION record, Germline, Unknown
-
1/2794 individuals
-
-
-
VKGL-NL_Leiden
,
Ikuko Takeda
,
Mohammed Faruq
-/.
1
-
c.1200G>A
r.(?)
p.(Thr400=)
-
benign
g.68172380G>A
-
KCNJ2(NM_000891.3):c.1200G>A (p.T400=)
-
KCNJ2_000105
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
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