Global Variome shared LOVD
KCNH2 (potassium voltage-gated channel, subfamily H...)
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Unique variants in the KCNH2 gene
The variants shown are described using the
NM_000238.3
NM_172057.2
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%)
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Column type
Example
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Text
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!
Text
!fs
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^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
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Ser)$
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=""
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="p.0"
all entries exactly matching 'p.0'
!=""
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!=""
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!=""
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!="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
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
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
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all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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all entries containing 'Asian' or 'African', but not containing 'Caucasian'
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all entries containing 'South Asian', but not containing 'South East Asian'
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732 entries on 8 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.-401_*409{0}
r.?
p.?
-
pathogenic
g.(?_143873921)_(155888203_?)del
-
arr[GRCh37] 7q35q36.3(143873921_155888203)x1
-
FASTK_000004
variant definitively linked to disease
Fusco 2042, submitted
-
-
Germline
-
-
-
-
-
Carmela Fusco
-?/.
1
-
c.-43_-39dup
r.(?)
p.(=)
-
likely benign
g.150675053_150675057dup
g.150977965_150977969dup
-
-
KCNH2_001300
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/.
1
-
c.-12_-11insGGCCGGCCC
r.(?)
p.(=)
-
likely benign
g.150675016_150675017insCGGCCGGGC
g.150977928_150977929insCGGCCGGGC
-
-
KCNH2_001299
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
13
c.(3002ˆ3003)G>A
r.(?)
p.(Trp1001*)
-
pathogenic
g.(150644565_150644566)C>T
-
W1001X
-
KCNH2_000923
data from Inherited Arrhythmias web site
PubMed: Moss 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
_1_15_
c.-401_*409{0}
r.0
p.0
ACMG
pathogenic
g.149665917_150777829del
-
-
-
FASTK_000004
795kb deletion incl. KCNH2, 5' breakpoint in ACTR3C gene
PubMed: Singer 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
1
c.2T>G
r.(?)
p.0?
-
pathogenic
g.150675000A>C
g.150977912A>C
(Met1Thr)
-
KCNH2_000792
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
?/.
1
-
c.16G>A
r.(?)
p.(Gly6Ser)
-
VUS
g.150674986C>T
-
KCNH2(NM_000238.4):c.16G>A (p.G6S)
-
KCNH2_001341
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
1
c.38C>A
r.(?)
p.(Thr13Asn)
-
VUS
g.150674964G>T
g.150977876G>T
-
-
KCNH2_000791
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
?/.
1
-
c.44T>A
r.(?)
p.(Leu15Gln)
-
VUS
g.150674958A>T
g.150977870A>T
-
-
KCNH2_001321
2 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs794728418
Germline
-
2/2795 individuals
-
-
-
Mohammed Faruq
?/.
1
1
c.45_56del
r.(?)
p.(Asp16_Ile19del)
-
VUS
g.150674947_150674958del
g.150977859_150977870del
-
-
KCNH2_000790
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
-/., -?/.
3
-
c.51C>G
r.(?)
p.(Thr17=)
-
benign, likely benign
g.150674951G>C
g.150977863G>C
KCNH2(NM_000238.3):c.51C>G (p.T17=), KCNH2(NM_000238.4):c.51C>G (p.T17=)
-
KCNH2_001206
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/.
1
1
c.56T>C
r.(?)
p.(Ile19Thr)
-
VUS
g.150674946A>G
g.150977858A>G
-
-
KCNH2_000789
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
?/.
2
1
c.59G>T
r.(?)
p.(Arg20Leu)
ACMG
VUS
g.150674943C>A
g.150977855C>A
-
-
KCNH2_000788
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
,
Hideki Itoh
-?/.
1
-
c.76+12A>G
r.(=)
p.(=)
-
likely benign
g.150674914T>C
g.150977826T>C
KCNH2(NM_000238.3):c.76+12A>G
-
KCNH2_001205
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-/., -?/.
2
-
c.77-5C>G
r.spl?
p.?
-
benign, likely benign
g.150672034G>C
g.150974946G>C
KCNH2(NM_000238.4):c.77-5C>G
-
KCNH2_001268
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+/.
1
2
c.77G>T
r.(?)
p.(Ser26Ile)
-
pathogenic
g.150672029C>A
g.150974941C>A
G77T
-
KCNH2_000918
data from Inherited Arrhythmias web site
PubMed: Moss 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2
c.77_78delinsTT
r.(?)
p.(Ser26Ile)
-
pathogenic
g.150672028_150672029delinsAA
g.150974940_150974941delinsAA
77-78GC>TT
-
KCNH2_001157
-
PubMed: Tester 2005
-
-
Germline
-
1/541 cases LQT
-
-
-
Johan den Dunnen
+/.
1
2
c.81del
r.(?)
p.(Lys28Serfs*32)
-
pathogenic
g.150672025del
g.150974937del
-
-
KCNH2_000787
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/., ?/.
2
2
c.82A>G
r.(?)
p.(Lys28Glu)
-
pathogenic, VUS
g.150672024T>C
g.150974936T>C
A82G
-
KCNH2_001156
no interpretation available; 1 heterozygous, no homozygous;
Clinindb (India)
,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
,
PubMed: Rossenbacker 2005
-
rs794728475
Germline
-
1/2794 individuals
-
-
-
Johan den Dunnen
,
Mohammed Faruq
+/., ?/.
5
2
c.87C>A
r.(?)
p.(Phe29Leu)
-
pathogenic
g.150672019G>T
g.150974931G>T
C87A
-
KCNH2_001155
data from Inherited Arrhythmias web site
PubMed: Chen 1999
,
PubMed: Splawski 2000
,
PubMed: Struijk 2006
,
PubMed: Tester 2005
-
-
Germline
?
1/541 cases LQT
-
-
-
Johan den Dunnen
,
Sofie Lindgren Christiansen
+/.
1
2
c.92T>G
r.(?)
p.(Ile31Ser)
-
pathogenic
g.150672014A>C
g.150974926A>C
T92G
-
KCNH2_001154
data from Inherited Arrhythmias web site
PubMed: Tester 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., -/-, -/.
4
2
c.98A>C
r.(?)
p.(Asn33Thr)
-
benign, pathogenic
g.150672008T>G
g.150974920T>G
A98C
-
KCNH2_001153
data from Inherited Arrhythmias web site
PubMed: Ackerman 2003
,
PubMed: Chen 1999
,
PubMed: Splawski 2000
-
-
Germline
-
1/187 controls
-
-
-
Johan den Dunnen
-/.
1
-
c.120C>T
r.(?)
p.(Ala40=)
-
benign
g.150671986G>A
g.150974898G>A
KCNH2(NM_000238.4):c.120C>T (p.A40=)
-
KCNH2_001204
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
2
c.125T>G
r.(?)
p.(Ile42Ser)
-
VUS
g.150671981A>C
g.150974893A>C
-
-
KCNH2_000786
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
?/.
1
2
c.127T>G
r.(?)
p.(Tyr43Asp)
-
VUS
g.150671979A>C
g.150974891A>C
-
-
KCNH2_000785
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/.
1
2
c.128A>G
r.(?)
p.(Tyr43Cys)
-
pathogenic
g.150671978T>C
g.150974890T>C
A128G
-
KCNH2_001152
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
2
c.130T>G
r.(?)
p.(Cys44Gly)
-
VUS
g.150671976A>C
g.150974888A>C
-
-
KCNH2_000784
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/., ?/.
2
2
c.131G>T
r.(?)
p.(Cys44Phe)
-
pathogenic, VUS
g.150671975C>A
g.150974887C>A
-
-
KCNH2_000783
data from Inherited Arrhythmias web site
PubMed: Lupoglazoff JM 2001
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Hideki Itoh
+/.
1
2
c.132C>A
r.(?)
p.(Cys44*)
-
pathogenic
g.150671974G>T
g.150974886G>T
C132A
-
KCNH2_001151
data from Inherited Arrhythmias web site
PubMed: Splawski 2000
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
2
c.135C>A
r.(?)
p.(Asn45Lys)
-
VUS
g.150671971G>T
g.150974883G>T
-
-
KCNH2_000782
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/.
1
2
c.140G>T
r.(?)
p.(Gly47Val)
-
pathogenic
g.150671966C>A
g.150974878C>A
G140T
-
KCNH2_001150
data from Inherited Arrhythmias web site
PubMed: Splawski 2000
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
2
c.145T>C
r.(?)
p.(Cys49Arg)
-
VUS
g.150671961A>G
g.150974873A>G
-
-
KCNH2_000781
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/.
1
2
c.146G>A
r.(?)
p.(Cys49Tyr)
-
pathogenic
g.150671960C>T
g.150974872C>T
G146A
-
KCNH2_001149
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2
c.148del
r.(?)
p.(Glu50Serfs*10)
-
pathogenic
g.150671958del
g.150974870del
148delG
-
KCNH2_000780
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
?/.
2
2
c.157G>A
r.(?)
p.(Gly53Ser)
-
VUS
g.150671949C>T
g.150974861C>T
-
-
KCNH2_000779
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/.
3
2
c.157G>C
r.(?)
p.(Gly53Arg)
-
pathogenic
g.150671949C>G
g.150974861C>G
G157C
-
KCNH2_001148
data from Inherited Arrhythmias web site
PubMed: Chen 1999
,
PubMed: Splawski 2000
,
PubMed: Tester 2005
-
-
Germline
-
1/541 cases LQT
-
-
-
Johan den Dunnen
?/.
2
2
c.158G>A
r.(?)
p.(Gly53Asp)
-
VUS
g.150671948C>T
g.150974860C>T
-
-
KCNH2_000778
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/.
2
2
c.164C>T
r.(?)
p.(Ser55Leu)
-
pathogenic
g.150671942G>A
g.150974854G>A
C164T
-
KCNH2_001147
1 heterozygous, no homozygous;
Clinindb (India)
,
data from Inherited Arrhythmias web site
PubMed: Narang 2020
,
Journal: Narang 2020
,
PubMed: Tester 2005
-
rs199472844
Germline
-
1/2795 individuals
-
-
-
Johan den Dunnen
,
Mohammed Faruq
+/., ?/.
3
2
c.167G>A
r.(?)
p.(Arg56Gln)
-
pathogenic, VUS
g.150671939C>T
g.150974851C>T
G167A
-
KCNH2_000849
data from Inherited Arrhythmias web site
PubMed: Chen 1999
,
PubMed: Splawski 2000
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Hideki Itoh
+/., ?/.
3
2
c.172G>A
r.(?)
p.(Glu58Lys)
-
pathogenic, VUS
g.150671934C>T
g.150974846C>T
G172A
-
KCNH2_000777
data from Inherited Arrhythmias web site
PubMed: Lupoglazoff JM 2001
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Hideki Itoh
+/.
1
2
c.173A>C
r.(?)
p.(Glu58Ala)
-
pathogenic
g.150671933T>G
g.150974845T>G
A173C
-
KCNH2_001145
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2
c.173A>G
r.(?)
p.(Glu58Gly)
-
pathogenic
g.150671933T>C
g.150974845T>C
A173G
-
KCNH2_001146
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2
c.174G>C
r.(?)
p.(Glu58Asp)
-
pathogenic
g.150671932C>G
g.150974844C>G
G174C
-
KCNH2_001144
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., +?/., ?/.
3
2
c.191G>A
r.(?)
p.(Cys64Tyr)
-
likely pathogenic, pathogenic, VUS
g.150671915C>T
g.150974827C>T
G191A, KCNH2(NM_000238.3):c.191G>A (p.C64Y)
-
KCNH2_000776
VKGL data sharing initiative Nederland,
data from Inherited Arrhythmias web site
PubMed: Van Langen 2003
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
Hideki Itoh
,
VKGL-NL_Utrecht
+/.
2
2
c.193A>C
r.(?)
p.(Thr65Pro)
-
pathogenic
g.150671913T>G
g.150974825T>G
A193C
-
KCNH2_001143
data from Inherited Arrhythmias web site
PubMed: Paulussen 2002
,
PubMed: Tester 2005
-
-
Germline
-
1/541 cases LQT
-
-
-
Johan den Dunnen
+/.
2
2
c.196T>G
r.(?)
p.(Cys66Gly)
-
pathogenic
g.150671910A>C
g.150974822A>C
T196G
-
KCNH2_001142
data from Inherited Arrhythmias web site
PubMed: Chen 1999
,
PubMed: Splawski 2000
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
1
-
c.197G>A
r.(?)
p.(Cys66Tyr)
-
likely pathogenic
g.150671909C>T
-
KCNH2(NM_000238.4):c.197G>A (p.C66Y)
-
KCNH2_001372
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
1
2
c.202T>C
r.(?)
p.(Phe68Leu)
-
pathogenic
g.150671904A>G
g.150974816A>G
T202C
-
KCNH2_001141
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
2
c.202T>G
r.(?)
p.(Phe68Val)
-
VUS
g.150671904A>C
g.150974816A>C
-
-
KCNH2_000775
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/.
3
2
c.209A>G
r.(?)
p.(His70Arg)
-
pathogenic
g.150671897T>C
g.150974809T>C
A209G
-
KCNH2_001140
data from Inherited Arrhythmias web site
PubMed: Chen 1999
,
PubMed: Splawski 2000
,
PubMed: Tester 2005
-
-
Germline
-
1/541 cases LQT
-
-
-
Johan den Dunnen
?/.
1
2
c.211G>A
r.(?)
p.(Gly71Arg)
-
VUS
g.150671895C>T
g.150974807C>T
-
-
KCNH2_000774
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/.
1
2
c.211G>C
r.(?)
p.(Gly71Arg)
-
pathogenic
g.150671895C>G
g.150974807C>G
G211C
-
KCNH2_001139
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., ?/.
2
2
c.215C>A
r.(?)
p.(Pro72Gln)
-
pathogenic, VUS
g.150671891G>T
g.150974803G>T
C215A
-
KCNH2_000773
data from Inherited Arrhythmias web site
PubMed: Splawski 2000
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Hideki Itoh
+?/.
1
-
c.215C>G
r.(?)
p.(Pro72Arg)
-
likely pathogenic
g.150671891G>C
g.150974803G>C
KCNH2(NM_000238.4):c.215C>G (p.P72R)
-
KCNH2_001203
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
?/.
1
2
c.215C>T
r.(?)
p.(Pro72Leu)
-
VUS
g.150671891G>A
g.150974803G>A
-
-
KCNH2_000772
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/.
1
2
c.221C>T
r.(?)
p.(Thr74Met)
-
pathogenic
g.150671885G>A
g.150974797G>A
C221T
-
KCNH2_001138
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
2
c.221_251del
r.(?)
p.(Thr74Argfs*32)
-
pathogenic
g.150671861_150671891del
g.150974773_150974803del
221_251del, del221–251
-
KCNH2_001135
data from Inherited Arrhythmias web site
PubMed: Splawski 2000
,
PubMed: Tester 2005
-
-
Germline
-
1/541 cases LQT
-
-
-
Johan den Dunnen
+/.
1
2
c.223C>T
r.(?)
p.(Gln75*)
-
pathogenic
g.150671883G>A
g.150974795G>A
-
-
KCNH2_000771
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
?/.
1
-
c.229C>T
r.(?)
p.(Arg77Cys)
-
VUS
g.150671877G>A
-
-
-
KCNH2_001417
-
-
-
rs769084156
Unknown
-
-
-
-
-
MobiDetails
+/.
3
2
c.232G>C
r.(?)
p.(Ala78Pro)
-
pathogenic
g.150671874C>G
g.150974786C>G
G232C
-
KCNH2_001137
data from Inherited Arrhythmias web site
PubMed: Chen 1999
,
PubMed: Splawski 2000
,
PubMed: Tester 2005
-
-
Germline
-
1/541 cases LQT
-
-
-
Johan den Dunnen
+/.
1
2
c.241C>T
r.(?)
p.(Gln81*)
-
pathogenic
g.150671865G>A
g.150974777G>A
C241T
-
KCNH2_001136
data from Inherited Arrhythmias web site
PubMed: Splawski 2000
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2
c.244_252del
r.(?)
p.(Ile82_Gln84del)
-
pathogenic
g.150671861_150671869del
g.150974773_150974781del
244_252del
-
KCNH2_001134
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
2
c.244_252dup
r.(?)
p.(Ile82_Gln84dup)
-
pathogenic
g.150671861_150671869dup
g.150974773_150974781dup
244_252ins9 (82-84insIAQ)
-
KCNH2_000951
data from Inherited Arrhythmias web site
PubMed: Larsen 2001
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
1
-
c.251A>G
r.(?)
p.(Gln84Arg)
ACMG
likely pathogenic
g.150671855T>C
g.150974767T>C
-
-
KCNH2_001361
ACMG PM1, PM2, PP2, PP3
PubMed: Marinakis 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Jan Traeger-Synodinos
+/.
1
2
c.254C>T
r.(?)
p.(Ala85Val)
-
pathogenic
g.150671852G>A
g.150974764G>A
C254T
-
KCNH2_001133
data from Inherited Arrhythmias web site
PubMed: Tester 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
2
c.257T>G
r.(?)
p.(Leu86Arg)
-
pathogenic
g.150671849A>C
g.150974761A>C
T257G
-
KCNH2_001132
data from Inherited Arrhythmias web site
PubMed: Chen 1999
,
PubMed: Splawski 2000
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., +?/., ?/.
5
2
c.260T>C
r.(?)
p.(Leu87Pro)
-
likely pathogenic, pathogenic, VUS
g.150671846A>G
g.150974758A>G
KCNH2(NM_000238.3):c.260T>C (p.L87P), T260C
-
KCNH2_000770
VKGL data sharing initiative Nederland,
data from Inherited Arrhythmias web site
PubMed: Jongbloed 2002
,
PubMed: Van Langen 2003
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
Hideki Itoh
,
VKGL-NL_Utrecht
-/., -?/.
2
-
c.276C>T
r.(?)
p.(Arg92=)
-
benign, likely benign
g.150671830G>A
g.150974742G>A
KCNH2(NM_000238.4):c.276C>T (p.R92=)
-
KCNH2_001202
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
?/.
2
2
c.278A>G
r.(?)
p.(Lys93Arg)
-
VUS
g.150671828T>C
g.150974740T>C
KCNH2(NM_000238.4):c.278A>G (p.K93R)
-
KCNH2_000759
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Hideki Itoh
,
VKGL-NL_AMC
+/.
2
2
c.287T>C
r.(?)
p.(Ile96Thr)
-
pathogenic
g.150671819A>G
g.150974731A>G
T287C
-
KCNH2_001131
data from Inherited Arrhythmias web site
PubMed: Larsen 2001
,
PubMed: Struijk 2006
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., ?/.
2
2
c.296A>C
r.(?)
p.(Tyr99Ser)
-
pathogenic, VUS
g.150671810T>G
g.150974722T>G
-
-
KCNH2_000758
data from Inherited Arrhythmias web site
PubMed: Jongbloed 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Hideki Itoh
+/., ?/.
2
2
c.298C>G
r.(?)
p.(Arg100Gly)
-
pathogenic, VUS
g.150671808G>C
g.150974720G>C
C298G
-
KCNH2_000757
data from Inherited Arrhythmias web site
PubMed: Millat 2006(1)
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Hideki Itoh
+/.
1
2
c.299G>A
r.(?)
p.(Arg100Gln)
-
pathogenic
g.150671807C>T
g.150974719C>T
G299A
-
KCNH2_001130
data from Inherited Arrhythmias web site
PubMed: Tester 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
2
-
c.300G>T
r.(?)
p.(Arg100=)
-
likely benign
g.150671806C>A
g.150974718C>A
KCNH2(NM_000238.4):c.300G>T (p.R100=)
-
KCNH2_001266
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
+?/.
1
-
c.301A>C
r.(?)
p.(Lys101Gln)
-
likely pathogenic
g.150671805T>G
g.150974717T>G
KCNH2(NM_000238.4):c.301A>C (p.K101Q)
-
KCNH2_001201
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
2
2
c.301A>G
r.(?)
p.(Lys101Glu)
-
pathogenic
g.150671805T>C
g.150974717T>C
A301G
-
KCNH2_001129
data from Inherited Arrhythmias web site
PubMed: Christiansen 2005
,
PubMed: Larsen 2001
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
2i
c.307+27G>C
r.(?)
p.(=)
-
benign
g.150671772C>G
g.150974684C>G
IVS2+27G>C
-
KCNH2_000936
data from Inherited Arrhythmias web site
PubMed: Jongbloed 2002
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.308-173G>T
r.(?)
p.(?)
-
VUS
g.150656997C>A
-
-
-
KCNH2_001390
-
-
-
rs911283150
CLASSIFICATION record
-
-
-
-
-
MobiDetails
+/.
1
3
c.308_310insATG
r.(?)
p.(?)
-
pathogenic
g.150656822_150656824insCAT
-
308_310insATG
-
KCNH2_001128
1 more item
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
3
c.316T>G
r.(?)
p.(Phe106Val)
-
VUS
g.150656816A>C
g.150959728A>C
-
-
KCNH2_000756
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/.
1
-
c.321_322del
r.(?)
p.(Cys108SerfsTer36)
-
pathogenic
g.150656811_150656812del
g.150959723_150959724del
KCNH2(NM_000238.4):c.321_322delAT (p.C108Sfs*36)
-
KCNH2_001200
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+?/.
1
-
c.329T>G
r.(?)
p.(Val110Gly)
-
likely pathogenic
g.150656803A>C
-
-
-
KCNH2_001396
-
-
-
-
CLASSIFICATION record
-
-
-
-
-
MobiDetails
?/.
1
3
c.332A>T
r.(?)
p.(Asp111Val)
-
VUS
g.150656800T>A
g.150959712T>A
-
-
KCNH2_000755
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
+/.
1
3
c.337_339del
r.(?)
p.(Val113del)
-
pathogenic
g.150656796_150656798del
g.150959708_150959710del
337_339del
-
KCNH2_001127
data from Inherited Arrhythmias web site
PubMed: Napolitano 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/., ?/.
3
3
c.340C>T
r.(?)
p.(Pro114Ser)
-
pathogenic, VUS
g.150656792G>A
g.150959704G>A
-
-
KCNH2_000754
data from Inherited Arrhythmias web site
PubMed: Lupoglazoff JM 2001
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Hideki Itoh
?/.
1
3
c.343G>A
r.(?)
p.(Val115Met)
-
VUS
g.150656789C>T
g.150959701C>T
-
-
KCNH2_000167
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
-?/.
1
-
c.351C>T
r.(?)
p.(Asn117=)
-
likely benign
g.150656781G>A
g.150959693G>A
-
-
KCNH2_001297
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/., ?/.
2
3
c.371T>C
r.(?)
p.(Met124Thr)
-
pathogenic, VUS
g.150656761A>G
g.150959673A>G
T371C
-
KCNH2_000753
data from Inherited Arrhythmias web site
PubMed: Hayashi 2004
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Hideki Itoh
+/.
2
3
c.371T>G
r.(?)
p.(Met124Arg)
-
pathogenic
g.150656761A>C
g.150959673A>C
T371G
-
KCNH2_000919
data from Inherited Arrhythmias web site
PubMed: Moss 2002
,
PubMed: Shushi 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.391G>A
r.(?)
p.(Val131Met)
-
VUS
g.150656741C>T
-
KCNH2(NM_000238.4):c.391G>A (p.V131M)
-
KCNH2_001330
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_AMC
+/.
2
3
c.395_456del
r.(?)
p.(Val132Glufs*179)
-
pathogenic
g.150656676_150656737del
g.150959588_150959649del
395_456del, V131fs/185
-
KCNH2_000902
data from Inherited Arrhythmias web site
PubMed: Choi 2004
,
PubMed: Tester 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/., ?/.
2
-
c.422C>T
r.(?)
p.(Pro141Leu)
ACMG
likely benign, VUS
g.150656710G>A
g.150959622G>A
-
-
KCNH2_001305
ACMG: BS1,BS2,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs199472864
Germline
-
1/2789 individuals
-
-
-
Andreas Laner
,
Mohammed Faruq
+/.
1
3
c.422dup
r.(?)
p.(Ala142Glyfs*3)
-
pathogenic
g.150656713dup
g.150959625dup
422_423insC
-
KCNH2_001126
1 more item
PubMed: Splawski 2000
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+?/., -?/.
5
3
c.442C>T
r.(?)
p.(Arg148Trp)
-
likely benign, likely pathogenic
g.150656690G>A
g.150959602G>A
KCNH2(NM_000238.3):c.442C>T (p.R148W), KCNH2(NM_000238.4):c.442C>T (p.R148W)
-
KCNH2_000877
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Sofie Lindgren Christiansen
,
VKGL-NL_Rotterdam
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
,
VKGL-NL_AMC
-?/.
1
-
c.452C>T
r.(?)
p.(Pro151Leu)
-
likely benign
g.150656680G>A
g.150959592G>A
-
-
KCNH2_001296
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
+/.
1
3
c.452_453dup
r.(?)
p.(Thr152Profs*15)
-
pathogenic
g.150656684_150656685dup
g.150959596_150959597dup
453_454insCC
-
KCNH2_000894
data from Inherited Arrhythmias web site
PubMed: Tester 2005
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
3
3
c.453del
r.(?)
p.(Thr152Profs*14)
ACMG
pathogenic
g.150656685del
g.150959597del
453delC
-
KCNH2_000752
ACMG grading: PM2,PP1,PVS1,
data from Inherited Arrhythmias web site
PubMed: Swan 1999
-
rs767521596
Germline
-
-
-
-
-
Johan den Dunnen
,
Andreas Laner
,
Hideki Itoh
+/.
5
3
c.453dup
r.(?)
p.(Thr152Hisfs*180)
ACMG
pathogenic
g.150656685dup
g.150959597dup
453_454insC, insC453–454
-
KCNH2_000751, KCNH2_001125
ACMG: PVS1,PM2,PP1,
1 more item
PubMed: Splawski 2000
,
PubMed: Tester 2005
-
rs761863251
Germline
-
2/541 cases LQT
-
-
-
Johan den Dunnen
,
Andreas Laner
,
Hideki Itoh
+/.
1
3
c.468_469insGCCC
r.(?)
p.(Pro157Alafs*176)
-
pathogenic
g.150656665_150656666insGCGG
g.150959577_150959578insGCGG
-
-
KCNH2_000750
-
-
-
-
Germline
-
-
-
-
-
Hideki Itoh
-/.
1
-
c.473-53C>T
r.(=)
p.(=)
-
benign
g.150655643G>A
g.150958555G>A
-
-
KCNH2_001264
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
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