Global Variome shared LOVD
KCNV2 (potassium channel, subfamily V, member 2)
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This database is one of the
""Eye disease""
gene variant databases.
""
The variants shown are described using the NM_133497.3 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
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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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532 entries on 6 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.(?_-214)_(1356+1)_(1357-1)del
r.(?)
Exon 1 Deletion
Both (homozygous)
-
likely pathogenic
g.(?_2717526)_(2719096_2729445)del
g.(?_2717526)_(2719096_2729445)del
KCNV2 c.(?_-214)_1356+?, Exon 1 Deletion
-
PTCH1_000000
homozygous
PubMed: Georgiou 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
multiple centers, various techniques
retinal disease
ERA02_AAHJT02
PubMed: Georgiou 2021
family ERA02, individual AAHJT02
M
-
Netherlands
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-214)_(1356+1)_(1357-1)del
r.0?
p.0?
Parent #2
-
likely pathogenic
g.(?_2717526)_(2719096_2729445)del
g.(?_2717526)_(2719096_2729445)del
KCNV2 c.(?_-214)_1356+?, Exon 1 Del
-
PTCH1_000000
heterozygous
PubMed: Georgiou 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
multiple centers, various techniques
retinal disease
ZD 599_ZD599-29894
PubMed: Georgiou 2021
family ZD 599, individual ZD599-29894
F
-
Germany
-
-
-
-
-
1
LOVD
+?/.
11i
c.(?_273)_(*64_?)del
r.?
p.(Pro92Ilefs*3)
Parent #2
ACMG
likely pathogenic
g.(?_2718012)_(2729791_?)del
-
c.(273_*64)del
-
KCNV2_000229
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
067121
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
M
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+?/.
-
c.{0}
r.0
p.0
Parent #1
-
likely pathogenic
g.(?_2717739)_(2729728_?)del
g.(?_2717739)_(2729728_?)del
g.2717689_2729777del
-
KCNV2_000159
-
PubMed: Ellingford 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
retinal disease
15005719
PubMed: Ellingford 2017
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
./.
-
c.-2513636_*5469272del
r.0?
p.0?
Unknown
-
pathogenic
g.204104_8198999del
g.204104_8198999del
-
-
GLDC_000111
decreased gene dosage
PubMed: DDDS 2015
,
Journal: DDDS 2015
-
-
De novo
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
?
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, affected mother/child
F
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
2
Johan den Dunnen
+/.
1_2
c.-147144_*77686del
r.(?)
p.?
Unknown
-
pathogenic
g.2570596_2807413del
-
g.2570596_2807413del
-
KCNV2_000112
-
PubMed: Thiadens_2012
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Thiadens_2012
-
-
no
-
-
-
-
-
-
1
LOVD
+?/.
-
c.-11101_1356+4531del
r.?
p.?
Parent #2
-
likely pathogenic
g.2706639_2723626del
g.?
KCNV2 deletion confirmed by TaqMan
-
KCNV2_000169
heterozygous; described also in {PMID:Wissinger 2011:21882291}, deletion boundaries marked, "exon 1+" g.2696639_2713626del in hg18
PubMed: Wissinger 2008
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
14594_PWS
PubMed: Wissinger 2008
described also in
PubMed: Wissinger 2011
, deletion boundaries
M
-
-
-
-
-
-
-
1
LOVD
+?/.
1_2
c.-759_*57289del
r.(?)
p.?
Parent #1
-
likely pathogenic
g.2716981_2787016del
-
g.2716981_2787016del
-
KCNV2_000149
-
PubMed: Maggi_2021
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Maggi_2021
-
F
-
Switzerland
-
-
-
-
-
1
LOVD
+?/.
-
c.(?_-214)_(1356+1_1357-1)del
r.spl
p.(?)
Parent #1
-
likely pathogenic
g.?
g.?
KCNV2, variant 1: c.1186G>T/p.G396* , variant 2 :Deletion exon 1
-
PTCH1_000000
solved, compound heterozygous
PubMed: Weisschuh 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
RET9 targeted sequencing panel - see paper
retinal disease
1034
PubMed: Weisschuh 2020
Filing key number: 599, cone dystrophy, no patient Ids, consecutive numbers given
F
-
Germany
-
-
-
-
-
1
LOVD
?/.
-
c.(?_-214)_(*310_?)del
r.spl
p.(?)
Both (homozygous)
-
VUS
g.?
g.?
KCNV2 nucleotide 1, protein 1:whole gene del, confirmed by TaqMan qPCR
-
PTCH1_000000
homozygous, ACMG unclassified - no access to supplementary table 2
PubMed: Hull 2020
-
-
Germline
?
-
-
-
-
DNA
?
blood
NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families
retinal disease
55
PubMed: Hull 2020
-
?
-
New Zealand
Middle Eastern
-
-
-
-
1
LOVD
-/.
-
c.-64T>G
r.(?)
p.(=)
Unknown
-
benign
g.2717676T>G
g.2717676T>G
-
-
KCNV2_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-42C>G
r.(?)
p.(=)
Unknown
-
benign
g.2717698C>G
g.2717698C>G
-
-
KCNV2_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-15C>T
r.(?)
p.(=)
Unknown
-
benign
g.2717725C>T
g.2717725C>T
KCNV2(NM_133497.4):c.-15C>T
-
KCNV2_000051
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.-2C>T
r.(=)
p.(=)
Unknown
-
likely pathogenic
g.2717738C>T
-
c.-2C>T
-
KCNV2_000137
-
PubMed: Song-2011
-
rs75316505
Unknown
-
-
-
-
-
DNA
arraySEQ, PCR
blood
-
retinal disease
-
PubMed: Song-2011
-
F
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.-2C>T
r.(?)
p.(=)
Unknown
-
likely benign
g.2717738C>T
-
KCNV2(NM_133497.4):c.-2C>T
-
KCNV2_000137
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.0
r.0
p.0
Both (homozygous)
-
pathogenic
g.2673984_2766722del
g.2673984_2766722del
KCNV2 whole gene deletion
-
KCNV2_000171
homozygous
PubMed: Grigg 2013
-
-
Germline
yes
-
-
-
-
DNA
arrayCGH, TaqMan, PCR, SEQ
blood
-
retinal disease
?
PubMed: Grigg 2013
parents are first cousins of Lebanese ancestry
M
yes
Australia
Lebanese
-
-
-
-
1
LOVD
+?/.
-
c.0?
r.0?
p.0?
Maternal (confirmed)
-
likely pathogenic
g.2667638_2747340del
g.2667638_2747340del
KCNV2 D4: g.2657638_2737340del
-
KCNV2_000171
heterozygous
PubMed: Wissinger 2011
-
-
Germline
yes
-
-
-
-
DNA
STR, arraySNP, TaqMan, arrayCGH, SEQ
blood
-
retinal disease
CHRO8_VH
PubMed: Wissinger 2011
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0?
r.0?
p.0?
Maternal (confirmed)
-
likely pathogenic
g.2667638_2747340del
g.2667638_2747340del
KCNV2 D4: g.2657638_2737340del
-
KCNV2_000171
heterozygous
PubMed: Wissinger 2011
-
-
Germline
yes
-
-
-
-
DNA
STR, arraySNP, TaqMan, arrayCGH, SEQ
blood
-
retinal disease
CHRO8_MAH
PubMed: Wissinger 2011
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0?
r.0?
p.0?
Paternal (confirmed)
-
likely pathogenic
g.2580596_2817413del
g.2580596_2817413del
KCNV2 D5: g.2570596_2807413del
-
KCNV2_000171
heterozygous
PubMed: Wissinger 2011
-
-
Germline
yes
-
-
-
-
DNA
STR, arraySNP, TaqMan, arrayCGH, SEQ
blood
-
retinal disease
CHRO158_W07-1637
PubMed: Wissinger 2011
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.0?
r.0?
p.0?
Both (homozygous)
-
likely pathogenic
g.?
g.?
KCNV2 complete homozygous deletion
-
PTCH1_000000
homozygous
PubMed: Kiray 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ, PCRq
-
-
retinal disease
1_IV:1
PubMed: Kiray 2020
Family 1; pseudodominant inheritance due to multiple consanguineous marriages
M
yes
-
Egyptian
-
-
-
-
1
LOVD
+?/.
-
c.0?
r.0?
p.0?
Both (homozygous)
-
likely pathogenic
g.?
g.?
KCNV2 complete homozygous deletion
-
PTCH1_000000
homozygous
PubMed: Kiray 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ, PCRq
-
-
retinal disease
1_V:1
PubMed: Kiray 2020
Family 1; pseudodominant inheritance due to multiple consanguineous marriages
M
yes
-
Egyptian
-
-
-
-
1
LOVD
+?/.
-
c.0?
r.0?
p.0?
Both (homozygous)
-
likely pathogenic
g.?
g.?
KCNV2 complete homozygous deletion
-
PTCH1_000000
homozygous
PubMed: Kiray 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ, PCRq
-
-
retinal disease
1_V:3
PubMed: Kiray 2020
Family 1; pseudodominant inheritance due to multiple consanguineous marriages
F
yes
-
Egyptian
-
-
-
-
1
LOVD
+?/.
-
c.0?
r.0?
p.0?
Both (homozygous)
-
likely pathogenic
g.?
g.?
KCNV2 complete homozygous deletion
-
PTCH1_000000
homozygous
PubMed: Kiray 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ, PCRq
-
-
retinal disease
1_V:4
PubMed: Kiray 2020
Family 1; pseudodominant inheritance due to multiple consanguineous marriages
F
yes
-
Northern Iraqi
-
-
-
-
1
LOVD
+?/.
-
c.0?
r.0
p.0
Both (homozygous)
-
likely pathogenic
g.2670960_2783870del
g.2670960_2783870del
KCNV2 NC_000009.11:g.2670960_2783870del, Whole Gene Deletion
-
KCNV2_000171
homozygous
PubMed: Georgiou 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
multiple centers, various techniques
retinal disease
GC26805_MEH034
PubMed: Georgiou 2021
family GC26805, individual MEH034
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+/.
1
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.2718754_2718763delACCTGGTGG
-
1015–1024delACCTGGTGG
-
KCNV2_000125
-
PubMed: robson-2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: robson-2010
-
F
-
-
-
-
-
-
-
1
LOVD
+/.
1
c.?
r.(?)
p.?
Unknown
-
pathogenic
g.2718169C>T
-
C430T
-
KCNV2_000125
-
PubMed: robson-2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: robson-2010
-
F
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.?
r.?
p.?
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.2719299_2730682del
-
-
-
KCNV2_000125
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
MISC-262
PubMed: Weisschuh 2024
family, 2 affected
F
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.?
r.?
p.?
Unknown
ACMG
likely pathogenic (recessive)
g.2667638_2747340del
-
-
-
KCNV2_000171
ACMG PM2, PVS1
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CD-395
PubMed: Weisschuh 2024
family, 2 affected
M
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.1A>G
r.(?)
p.(Met1?)
Parent #1
-
likely pathogenic
g.2717740A>G
g.2717740A>G
KCNV2 c.1A>G, p.(Met1?)
-
KCNV2_000205
heterozygous
PubMed: Georgiou 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
multiple centers, various techniques
retinal disease
GC19701_MEH006
PubMed: Georgiou 2021
family GC19701, individual MEH006
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+/.
1_1i
c.(-230_1)_(1356+1_1357-1)del
r.0?
p.(Met1?)
Parent #2
ACMG
pathogenic
g.(2717510_2717739)_(2719096_2729445)del
-
-
-
KCNV2_000228
-
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
071497
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
F
-
-
-
-
-
-
-
1
Rebekkah Hitti-Malin
+?/.
-
c.(-230_1)_(1356+1_1357-1)del
r.?
p.0?
Unknown
ACMG
likely pathogenic
g.(2717510_2717739)_(2719096_2729445)del
-
-
-
KCNV2_000228
no variant 2nd chromosome, case unsolved
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
smMIP-based 105 iMD/AMD genes
macular dystrophy
066657
PubMed: Hitti-Malin 2024
,
Journal: Hitti-Malin 2024
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.6_9del
r.(?)
p.(Lys3Argfs*96)
Unknown
-
pathogenic (recessive)
g.2717745_2717748del
-
9:2717744TCAAA>T ENST00000382082.3:c.8_11delAACA (Lys3ArgfsTer96)
-
KCNV2_000098
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
G005209
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+/.
1
c.6_9delCAAA
r.(?)
p.(Lys3Argfs*96)
Unknown
-
pathogenic
g.2717745_2717748delCAAA
-
c.6_9delCAAA
-
KCNV2_000113
normal 2nd chromosome
PubMed: Thiadens_2012
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Thiadens_2012
-
-
no
-
-
-
-
-
-
1
LOVD
+/.
1
c.7A>T
r.(?)
p.(Lys3*)
Unknown
-
pathogenic
g.2717746A>T
-
A7T
-
KCNV2_000122
-
PubMed: robson-2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
retinal disease
-
PubMed: robson-2010
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.7A>T
r.(?)
p.(Lys3*)
Both (homozygous)
-
likely pathogenic
g.2717746A>T
g.2717746A>T
KCNV2 A7T, Lys3Stop
-
KCNV2_000122
homozygous; also heterozygous for L533V
PubMed: Wu 2006
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
4
PubMed: Wu 2006
-
-
-
United Kingdom (Great Britain)
British
-
-
-
-
1
LOVD
+?/.
-
c.7A>T
r.(?)
p.(Lys3*)
Both (homozygous)
-
likely pathogenic
g.2717746A>T
g.2717746A>T
KCNV2 p.Lys3X
-
KCNV2_000122
no nucleotide annotation, extrapolated from protein and databases; homozygous
PubMed: Stockman 2014
-
-
Unknown
?
-
-
-
-
DNA
?
blood
retrospective study
retinal disease
SR1
PubMed: Stockman 2014
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.8_11del
r.(?)
p.(Lys3Argfs*96)
Parent #1
-
pathogenic
g.2717747_2717750del
g.2717747_2717750del
8_11delAACA
-
KCNV2_000002
-
PubMed: Zenteno 2020
-
-
Germline
-
1/143 cases
-
-
-
DNA
SEQ, SEQ-NG
-
199 gene panel
retinal disease
3470
PubMed: Zenteno 2020
family
-
-
Mexico
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.8_11del
r.(?)
p.(Lys3Argfs*96)
Unknown
-
pathogenic
g.2717747_2717750del
g.2717747_2717750del
KCNV2 c.8_11delAACA, p.Lys3ArgfsTer96
-
KCNV2_000002
heterozygous
PubMed: Turro 2020
-
-
Germline/De novo (untested)
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole genome sequencing
retinal disease
G005209
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
(United Kingdom (Great Britain))
-
-
-
-
-
1
LOVD
+?/.
1,2
c.8_11del
r.(?)
p.(Lys3Argfs*96)
Unknown
-
likely pathogenic
g.2717747_2717750del
g.2717747_2717750del
KCNV2 c.8_11del c.1381G>A, p.Lys3Argfs*96 p.Gly461Arg
-
KCNV2_000002
heterozygous
PubMed: Gliem 2020
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG-I
blood
whole exome sequencing
retinal disease
135
PubMed: Gliem 2020
-
M
-
(Germany)
-
-
-
-
-
1
LOVD
+?/.
-
c.8_11del
r.(?)
p.(Lys3Argfs*96)
Parent #1
-
likely pathogenic
g.2717747_2717750del
g.2717747_2717750del
KCNV2 c.8_11del4, p.Lys3ArgfsX29
-
KCNV2_000002
heterozygous
PubMed: Zobor 2012
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
BCM5
PubMed: Zobor 2012
-
M
-
Germany
German
-
-
-
-
1
LOVD
+?/.
-
c.8_11del
r.(?)
p.(Lys3Argfs*96)
Parent #2
-
likely pathogenic
g.2717747_2717750del
g.2717747_2717750del
KCNV2 c.8_11delAACA
-
KCNV2_000002
no protein annotation, extrapolated from nucleotide; heterozygous
PubMed: Stockman 2014
-
-
Unknown
?
-
-
-
-
DNA
?
blood
retrospective study
retinal disease
SR5
PubMed: Stockman 2014
-
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.8_11del
r.(?)
p.(Lys3ArgfsTer96)
Unknown
ACMG
pathogenic (recessive)
g.2717747_2717750del
g.2717747_2717750del
-
-
KCNV2_000002
ACMG PM2, PVS1, PP5, PS4
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CD-595
PubMed: Weisschuh 2024
patient, no family history
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.8_11del
r.(?)
p.(Lys3ArgfsTer96)
Unknown
ACMG
pathogenic (recessive)
g.2717747_2717750del
g.2717747_2717750del
-
-
KCNV2_000002
ACMG PM2, PVS1, PP5, PS4
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CD-631-1
PubMed: Weisschuh 2024
family, 2 affected
M
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.8_11del
r.(?)
p.(Lys3ArgfsTer96)
Unknown
ACMG
pathogenic (recessive)
g.2717747_2717750del
g.2717747_2717750del
-
-
KCNV2_000002
ACMG PM2, PVS1, PP5, PS4
PubMed: Weisschuh 2024
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
?
CD-631-2
PubMed: Weisschuh 2024
family, 2 affected
M
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+?/.
-
c.8_11del4
r.(?)
p.(Lys3Argfs*96)
Parent #1
-
likely pathogenic
g.2717747_2717750del
g.2717747_2717750del
KCNV2 c.8_11del4, p.Lys3ArgfsX96
-
KCNV2_000002
heterozygous
PubMed: Wissinger 2011
-
-
Germline
yes
-
-
-
-
DNA
STR, arraySNP, TaqMan, arrayCGH, SEQ
blood
-
retinal disease
ZD164_AS
PubMed: Wissinger 2011
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.8_11del4
r.(?)
p.(Lys3Argfs*96)
Parent #1
-
likely pathogenic
g.2717747_2717750del
g.2717747_2717750del
KCNV2 c.8_11del4, p.Lys3ArgfsX96
-
KCNV2_000002
heterozygous
PubMed: Wissinger 2011
-
-
Germline
yes
-
-
-
-
DNA
STR, arraySNP, TaqMan, arrayCGH, SEQ
blood
-
retinal disease
CHRO450_LK
PubMed: Wissinger 2011
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.8_11del4
r.(?)
p.(Lys3Argfs*96)
Maternal (confirmed)
-
likely pathogenic
g.2717747_2717750del
g.2717747_2717750del
KCNV2 c.8_11del4, p.Lys3ArgfsX96
-
KCNV2_000002
heterozygous
PubMed: Wissinger 2011
-
-
Germline
yes
-
-
-
-
DNA
STR, arraySNP, TaqMan, arrayCGH, SEQ
blood
-
retinal disease
RCD382_MB
PubMed: Wissinger 2011
-
M
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.8_11delAACA
r.(?)
p.(Lys3Argfs*96)
Both (homozygous)
-
pathogenic
g.2717747_2717750del
g.2717747_2717750del
KCNV2 c.8_11delAACA, p.(Lys3Argfs*96)
-
KCNV2_000002
homozygous
PubMed: Georgiou 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
multiple centers, various techniques
retinal disease
CA-08_HSC 09
PubMed: Georgiou 2021
family CA-08, individual HSC 09
M
-
Canada
-
-
-
-
-
1
LOVD
+/.
-
c.8_11delAACA
r.(?)
p.(Lys3Argfs*96)
Parent #2
-
pathogenic
g.2717747_2717750del
g.2717747_2717750del
KCNV2 c.8_11delAACA, p.(Lys3Argfs*96)
-
KCNV2_000002
heterozygous
PubMed: Georgiou 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
multiple centers, various techniques
retinal disease
GC18957_MEH007
PubMed: Georgiou 2021
family GC18957, individual MEH007
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+?/.
-
c.19_1356+9571delinsCATTTG
r.(?)
p.(Arg7Hisfs*57)
Both (homozygous)
-
likely pathogenic
g.2717758_2728666delinsCATTTG
g.2717758_2728666delinsCATTTG
KCNV2 D1: c.19_1356+9571delinsCATTTG, p.Arg7HisfsX57
-
KCNV2_000172
homozygous
PubMed: Wissinger 2011
-
-
Germline
yes
-
-
-
-
DNA
STR, arraySNP, TaqMan, arrayCGH, SEQ
blood
-
retinal disease
RCD307_HPM
PubMed: Wissinger 2011
-
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.19_1356+9571delinsCATTTG
r.(?)
p.?
Both (homozygous)
-
likely pathogenic
g.2717758_2728666delinsCATTTG
g.2717758_2728666delinsCATTTG
KCNV2 D1: c.19_1356+9571delinsCATTTG, p.Arg7HisfsX57
-
KCNV2_000172
homozygous
PubMed: Wissinger 2011
-
-
Germline
yes
-
-
-
-
DNA
STR, arraySNP, TaqMan, arrayCGH, SEQ
blood
-
retinal disease
CHRO417_BS
PubMed: Wissinger 2011
-
F
-
-
-
-
-
-
-
1
LOVD
-?/.
-
c.58G>A
r.(?)
p.(Glu20Lys)
Unknown
-
likely benign
g.2717797G>A
-
KCNV2(NM_133497.4):c.58G>A (p.E20K)
-
KCNV2_000161
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.76C>T
r.(?)
p.(His26Tyr)
Unknown
-
VUS
g.2717815C>T
g.2717815C>T
KCNV2(NM_133497.3):c.76C>T (p.H26Y)
-
KCNV2_000052
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.80G>A
r.(?)
p.(Arg27His)
Unknown
-
benign
g.2717819G>A
g.2717819G>A
KCNV2(NM_133497.4):c.80G>A (p.R27H)
-
KCNV2_000072
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.80G>A
r.(?)
p.(Arg27His)
Unknown
-
likely benign
g.2717819G>A
g.2717819G>A
-
-
KCNV2_000072
classification based on frequency in 305 unrelated individuals
PubMed: Le 2019
-
-
Germline
-
frequency 0.022
-
-
-
DNA
SEQ, SEQ-NG
-
105 WGS/200 WES
Healthy/Control
-
PubMed: Le 2019
analysis 305 unrelated individuals
-
-
Viet Nam
-
-
-
-
-
1
Global Variome, with Curator vacancy
+/.
-
c.80G>A
r.(?)
p.(Arg27His)
Unknown
-
pathogenic
g.2717819G>A
g.2717819G>A
c.80G>A, p.(Arg27His)
-
KCNV2_000072
compound heterozygous
PubMed: Wang 2019
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG
blood
panel of 126 genes
retinal disease
14489
PubMed: Wang 2019
-
F
-
China
-
-
-
-
-
1
LOVD
+?/.
-
c.80G>A
r.(?)
p.(Arg27His)
Both (homozygous)
-
likely pathogenic
g.2717819G>A
g.2717819G>A
KCNV2 c.80G>A
-
KCNV2_000072
complex homozygous
PubMed: Fujinami 2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
3_4
PubMed: Fujinami 2013
family 3, individual 4
F
-
Japan
Japanese
-
-
-
-
1
LOVD
?/.
-
c.95C>G
r.(?)
p.(Ser32Cys)
Unknown
-
VUS
g.2717834C>G
-
KCNV2(NM_133497.3):c.95C>G (p.S32C)
-
KCNV2_000162
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.130C>T
r.(?)
p.(His44Tyr)
Unknown
-
likely benign
g.2717869C>T
g.2717869C>T
KCNV2(NM_133497.3):c.130C>T (p.H44Y)
-
KCNV2_000053
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.132C>T
r.(?)
p.(His44=)
Unknown
-
benign
g.2717871C>T
g.2717871C>T
KCNV2(NM_133497.4):c.132C>T (p.H44=)
-
KCNV2_000073
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.133G>A
r.(?)
p.(Gly45Ser)
Unknown
-
VUS
g.2717872G>A
-
c.133G>A
-
KCNV2_000160
-
PubMed: Borràs 2013
-
-
Germline
no
Novel
-
-
-
DNA
SEQ-NG, SEQ
blood
-
retinal disease
RP-83
PubMed: Borràs 2013
-
-
-
Spain
Spanish
-
-
-
-
1
LOVD
+?/.
-
c.137G>A
r.(?)
p.(Trp46*)
Unknown
-
likely pathogenic
g.2717876G>A
g.2717876G>A
KCNV2 p.W46X:c.137G>A
-
KCNV2_000173
compound heterozygous
PubMed: Lenis 2013
-
-
Unknown
?
-
-
-
-
DNA
SEQ
blood
-
retinal disease
?
PubMed: Lenis 2013
-
M
-
United States
-
-
-
-
-
1
LOVD
?/.
-
c.142G>A
r.(?)
p.(Glu48Lys)
Unknown
-
VUS
g.2717881G>A
g.2717881G>A
KCNV2(NM_133497.4):c.142G>A (p.E48K)
-
KCNV2_000074
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.144G>A
r.(?)
p.(Glu48=)
Unknown
-
likely benign
g.2717883G>A
-
KCNV2(NM_133497.4):c.144G>A (p.E48=)
-
KCNV2_000163
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.159C>G
r.(?)
p.(Tyr53*)
Both (homozygous)
-
VUS
g.2717898C>G
-
c.159C>G
-
KCNV2_000120
-
PubMed: Abu-Safieh-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
autozygome-guided sequencing
retinal disease
-
PubMed: Abu-Safieh-2013
-
-
-
Saudi Arabia
-
-
-
-
-
3
LOVD
+?/.
-
c.159C>G
r.(?)
p.(Tyr53*)
Both (homozygous)
-
likely pathogenic
g.2717898C>G
g.2717898C>G
KCNV2 c.159C>G (p.Y53X)
-
KCNV2_000120
homozygous
PubMed: Khan 2012
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
1
PubMed: Khan 2012
sister of patient 2
F
yes
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
-
c.159C>G
r.(?)
p.(Tyr53*)
Both (homozygous)
-
likely pathogenic
g.2717898C>G
g.2717898C>G
KCNV2 c.159C>G (p.Y53X)
-
KCNV2_000120
homozygous
PubMed: Khan 2012
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
2
PubMed: Khan 2012
sister of patient 1
F
yes
Saudi Arabia
-
-
-
-
-
1
LOVD
+?/.
-
c.159C>G
r.(?)
p.Tyr53*
Both (homozygous)
-
likely pathogenic
g.2717898C>G
g.2717898C>G
KCNV2 c.159C>G, p.Tyr53*
-
KCNV2_000120
homozygous
PubMed: Abdelkader 2020
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
gene panel testing and exome sequencing
retinal disease
4
PubMed: Abdelkader 2020
-
M
yes
Saudi Arabia
-
-
-
-
-
1
LOVD
+/.
-
c.162C>A
r.(?)
p.(Tyr54Ter)
Unknown
-
pathogenic
g.2717901C>A
g.2717901C>A
-
-
KCNV2_000026
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.162C>A
r.(?)
p.(Tyr54*)
Both (homozygous)
-
VUS
g.2717901C>A
-
c.162C>A
-
KCNV2_000026
-
PubMed: Littink 2010
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
retinal disease
-
PubMed: Littink 2010
-
-
yes
Netherlands
Moroccan
-
-
-
-
1
LOVD
-/.
-
c.168G>A
r.(?)
p.(Glu56=)
Unknown
-
benign
g.2717907G>A
g.2717907G>A
KCNV2(NM_133497.4):c.168G>A (p.E56=)
-
KCNV2_000054
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.183C>G
r.(?)
p.(Gly61=)
Unknown
-
benign
g.2717922C>G
g.2717922C>G
-
-
KCNV2_000027
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.183_185del
r.(?)
p.(Glu64del)
Unknown
ACMG
VUS
g.2717922_2717924del
g.2717922_2717924del
KCNV2:NM_133497 c.183_185del, p.E64del
-
KCNV2_000146
heterozygous, individual solved, variant non-causal
PubMed: Rodriguez-Munoz 2020
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
blood
-
retinal disease
RPN-309
PubMed: Rodriguez-Munoz 2020
family fRPN-147, proband
F
-
Spain
-
-
-
-
-
1
LOVD
?/.
-
c.193G>A
r.(?)
p.(Asp65Asn)
Unknown
-
VUS
g.2717932G>A
g.2717932G>A
KCNV2(NM_133497.3):c.193G>A (p.D65N)
-
KCNV2_000075
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.200G>A
r.(?)
p.(Trp67*)
Unknown
ACMG
pathogenic
g.2717939G>A
g.2717939G>A
KCNV2 c.200G>A(;)1348T>G, V1: c.200G>A, (p.Trp67Ter)
-
KCNV2_000157
alleles in cis or trans; heterozygous
PubMed: Chen 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG
blood
212 inherited retinal disease-related genes
retinal disease
F077
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
1
LOVD
+?/.
1
c.200G>A
r.(?)
p.(Trp67*)
Paternal (confirmed)
-
likely pathogenic
g.2717939G>A
g.2717939G>A
KCNV2 c.G200A (p.W67X)
-
KCNV2_000157
heterozygous
PubMed: Kutsuma 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
whole-exome sequencing
retinal disease
?
PubMed: Kutsuma 2019
-
F
-
-
-
-
-
-
-
1
LOVD
+/.
-
c.200G>A
r.(?)
p.(Trp67Ter)
Unknown
-
pathogenic
g.2717939G>A
g.2717939G>A
KCNV2 c.200G>A(;)1348T>G; p.(Trp67Ter)
-
KCNV2_000157
heterozygous
PubMed: Chen 2021
-
-
Germline/De novo (untested)
?
Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000398
-
-
-
DNA
SEQ-NG
-
targeted 212 IRD-related genes
retinal disease
F077
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
1
LOVD
-?/.
-
c.207C>T
r.(?)
p.(Asp69=)
Unknown
-
likely benign
g.2717946C>T
g.2717946C>T
KCNV2(NM_133497.3):c.207C>T (p.D69=)
-
KCNV2_000055
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.217G>T
r.(?)
p.(Glu73*)
Parent #1
-
likely pathogenic
g.2717956G>T
g.2717956G>T
KCNV2 c.217G>T, p.E73X
-
KCNV2_000174
heterozygous
PubMed: Wissinger 2008
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
14588_GD
PubMed: Wissinger 2008
-
M
-
-
-
-
-
-
-
1
LOVD
?/.
-
c.221A>G
r.(?)
p.(Glu74Gly)
Unknown
-
VUS
g.2717960A>G
g.2717960A>G
KCNV2(NM_133497.3):c.221A>G (p.E74G)
-
KCNV2_000056
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.224_230delACCAGCA
r.(?)
p.(Asp75Glyfs*23)
Both (homozygous)
-
pathogenic
g.2717963_2717969del
g.2717963_2717969del
KCNV2 c.224_230delACCAGCA, p.(Asp75Glyfs*23)
-
KCNV2_000206
homozygous
PubMed: Georgiou 2021
-
-
Unknown
?
-
-
-
-
DNA
SEQ-NG, SEQ
blood
multiple centers, various techniques
retinal disease
GC20527_MEH017
PubMed: Georgiou 2021
family GC20527, individual MEH017
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
LOVD
+?/.
-
c.226C>T
r.(?)
p.(Gln76*)
Both (homozygous)
-
likely pathogenic
g.2717965C>T
g.2717965C>T
KCNV2 c.226C>T, p.Q76X
-
KCNV2_000175
homozygous
PubMed: Wissinger 2008
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
12357_IRN
PubMed: Wissinger 2008
sibling of 16386_IHN and 16450_IHM
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.226C>T
r.(?)
p.(Gln76*)
Both (homozygous)
-
likely pathogenic
g.2717965C>T
g.2717965C>T
KCNV2 c.226C>T, p.Q76X
-
KCNV2_000175
homozygous
PubMed: Wissinger 2008
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
16386_IHN
PubMed: Wissinger 2008
sibling of 12357_IRN and 16450_IHM
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.226C>T
r.(?)
p.(Gln76*)
Both (homozygous)
-
likely pathogenic
g.2717965C>T
g.2717965C>T
KCNV2 c.226C>T, p.Q76X
-
KCNV2_000175
homozygous
PubMed: Wissinger 2008
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
16450_IHM
PubMed: Wissinger 2008
sibling of 12357_IRN and 16386_IHN
M
-
-
-
-
-
-
-
1
LOVD
+?/.
-
c.238G>T
r.(?)
p.(Glu80*)
Both (homozygous)
-
likely pathogenic
g.2717977G>T
g.2717977G>T
KCNV2 c.238G > T*: p.Glu80Stop
-
KCNV2_000176
homozygous
PubMed: Vincent 2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
3
PubMed: Vincent 2013
brother of 4
M
yes
-
Palestinian
-
-
-
-
1
LOVD
+?/.
-
c.238G>T
r.(?)
p.(Glu80*)
Both (homozygous)
-
likely pathogenic
g.2717977G>T
g.2717977G>T
KCNV2 c.238G > T*: p.Glu80Stop
-
KCNV2_000176
homozygous
PubMed: Vincent 2013
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
4
PubMed: Vincent 2013
brother of 3
M
yes
-
Palestinian
-
-
-
-
1
LOVD
?/.
1
c.240G>T
r.(?)
p.(Glu80Asp)
Both (homozygous)
-
VUS
g.2717979G>T
-
c.240G>T
-
KCNV2_000121
-
PubMed: Abu-Safieh-2013
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
blood
autozygome-guided sequencing
retinal disease
-
PubMed: Abu-Safieh-2013
-
-
-
Saudi Arabia
-
-
-
-
-
3
LOVD
+?/.
-
c.240G>T
r.(?)
p.(Glu80Asp)
Both (homozygous)
-
likely pathogenic
g.2717979G>T
g.2717979G>T
KCNV2 c.240 G>T (p.E80D)
-
KCNV2_000121
homozygous
PubMed: Khan 2012
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
8
PubMed: Khan 2012
-
M
yes
Saudi Arabia
-
-
-
-
-
1
LOVD
-/.
-
c.249C>T
r.(?)
p.(Thr83=)
Unknown
-
benign
g.2717988C>T
g.2717988C>T
KCNV2(NM_133497.4):c.249C>T (p.T83=)
-
KCNV2_000076
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.258C>G
r.(?)
p.(Pro86=)
Unknown
-
likely benign
g.2717997C>G
g.2717997C>G
KCNV2(NM_133497.3):c.258C>G (p.P86=), KCNV2(NM_133497.4):c.258C>G (p.P86=)
-
KCNV2_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.258C>G
r.(?)
p.(Pro86=)
Unknown
-
likely benign
g.2717997C>G
-
KCNV2(NM_133497.3):c.258C>G (p.P86=), KCNV2(NM_133497.4):c.258C>G (p.P86=)
-
KCNV2_000091
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.259_266dup
r.(?)
p.(Ser90ArgfsTer13)
Parent #1
-
VUS
g.2717998_2718005dup
g.2717998_2718005dup
254_255insGCCCGAGG
-
KCNV2_000107
-
PubMed: Wang 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
163-gene panel
retinal disease
134
PubMed: Wang 2015
index case
-
-
China
-
-
-
-
-
1
LOVD
+/.
1
c.263G>A
r.(?)
p.(Gly88Asp)
Unknown
-
pathogenic
g.2718002G>A
-
c.263G>A
-
KCNV2_000114
normal 2nd chromosome
PubMed: Thiadens_2012
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Thiadens_2012
-
-
no
-
-
-
-
-
-
1
LOVD
-?/.
-
c.291C>T
r.(?)
p.(Ser97=)
Unknown
-
likely benign
g.2718030C>T
g.2718030C>T
KCNV2(NM_133497.3):c.291C>T (p.S97=)
-
KCNV2_000057
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.291_292ins[105_223;TCACCACCACCTT;231_291]
r.(?)
p.(Thr98fs)
Maternal (confirmed)
-
pathogenic (recessive)
g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030]
g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030]
chr9:2717844-2718028dup;222_232delinsGGTCACCACCACCTTGG
-
KCNV2_000097
delins combined with duplication including delins
PubMed: Carss 2017
-
-
Uniparental disomy, maternal allele
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
W000170
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
+/.
-
c.291_292ins[105_223;TCACCACCACCTT;231_291]
r.(?)
p.(Thr98fs)
Maternal (confirmed)
-
pathogenic (recessive)
g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030]
g.2718030_2718031ins[2717844_2717962;TCACCACCACCTT;2717970_2718030]
chr9:2717844-2718028dup;222_232delinsGGTCACCACCACCTTGG
-
KCNV2_000097
-
PubMed: Carss 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WGS
retinal disease
W000170
PubMed: Carss 2017
-
F
-
United Kingdom (Great Britain)
Europe
-
-
-
-
1
LOVD
-?/.
-
c.312T>C
r.(?)
p.(Gly104=)
Unknown
-
likely benign
g.2718051T>C
g.2718051T>C
KCNV2(NM_133497.3):c.312T>C (p.G104=), KCNV2(NM_133497.4):c.312T>C (p.G104=)
-
KCNV2_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.312T>C
r.(?)
p.(Gly104=)
Unknown
-
likely benign
g.2718051T>C
-
KCNV2(NM_133497.3):c.312T>C (p.G104=), KCNV2(NM_133497.4):c.312T>C (p.G104=)
-
KCNV2_000058
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.323_329del
r.(?)
p.(Tyr108TrpfsTer14)
Unknown
-
pathogenic
g.2718062_2718068del
g.2718062_2718068del
-
-
KCNV2_000010
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.323_329del7
r.(?)
p.(Tyr108Trpfs*14)
Unknown
-
pathogenic
g.2718062_2718068del7
-
c.323_329del7
-
KCNV2_000115
-
PubMed: Thiadens_2012
-
-
Unknown
-
-
-
-
-
DNA
PCR, SEQ
blood
-
retinal disease
-
PubMed: Thiadens_2012
-
-
no
-
-
-
-
-
-
1
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