Global Variome shared LOVD
CAV3 (caveolin 3)
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Full data view for gene CAV3
This database is one of the gene variant databases from the
"Leiden Muscular Dystrophy pages" (LMDp)
.
The variants shown are described using the NM_033337.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
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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457 entries on 5 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
?/.
1
c.-122C>T
r.(?)
p.(=)
Parent #1
-
VUS
g.8775441C>T
g.8733755C>T
-
-
CAV3_000035
-
-
-
rs918317
Germline
-
0.00-0.04
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.-106G>A
r.(?)
p.(=)
Parent #1
-
benign
g.8775457G>A
g.8733771G>A
-
-
CAV3_000062
-
-
-
rs2072583
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
?/.
1
c.-106G>A
r.(?)
p.(=)
Parent #1
-
VUS
g.8775457G>A
g.8733771G>A
-
-
CAV3_000062
-
-
-
rs2072583
Germline
-
0.20-0.24
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-37G>A
r.(?)
p.(=)
Parent #1
-
VUS
g.8775526G>A
g.8733840G>A
-
-
CAV3_000050
-
-
-
rs116840771
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
?/.
1
c.-37G>A
r.(?)
p.(=)
Parent #1
-
VUS
g.8775526G>A
g.8733840G>A
-
-
CAV3_000050
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
-?/.
-
c.-37G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.8775526G>A
g.8733840G>A
CAV3(NM_033337.3):c.-37G>A
-
CAV3_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-37G>A
r.(?)
p.(=)
Unknown
-
benign
g.8775526G>A
-
CAV3(NM_033337.3):c.-37G>A
-
CAV3_000050
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.-10dup
r.(?)
p.(=)
Unknown
-
benign
g.8775553dup
g.8733867dup
-
-
CAV3_000118
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.-1G>A
r.(?)
p.(?)
Unknown
-
VUS
g.8775562G>A
g.8733876G>A
-
-
CAV3_000066
from website {DBsub-Emory}
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-/.
-
c.-1G>A
r.(?)
p.(=)
Unknown
-
benign
g.8775562G>A
g.8733876G>A
CAV3(NM_033337.2):c.-1G>A, CAV3(NM_033337.3):c.-1G>A
-
CAV3_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.-1G>A
r.(?)
p.(=)
Unknown
-
likely benign
g.8775562G>A
g.8733876G>A
CAV3(NM_033337.2):c.-1G>A, CAV3(NM_033337.3):c.-1G>A
-
CAV3_000066
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_1_2_
c.(?_-1)_(*1_?)del
r.0
p.0
Parent #1
-
pathogenic
g.(?_8775562)_(8787554_?)del
-
-
-
CAV3_000072
1.6 Mb deletion from LMCD1_CIDEC; de novo, in patient
PubMed: Gunnarsson 2010
-
-
De novo
-
-
-
-
-
DNA
arraySNP
-
-
del 3pterp25
-
PubMed: Gunnarsson 2010
-
F
-
Sweden
white
-
-
-
-
1
Johan den Dunnen
+/.
1
c.10_17del
r.(?)
p.(Glu4Hisfs*17)
Both (homozygous)
-
pathogenic
g.8775572_8775579del
g.8733886_8733893del
-
-
CAV3_000093
variant apparently homozygous; no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
1
c.13dup
r.(?)
p.(Glu5GlyfsTer19)
Maternal (confirmed)
-
pathogenic
g.8775575dup
g.8733889dup
13insG
-
CAV3_000070
-
PubMed: Traverso 2008
-
-
Germline
-
-
-
-
-
DNA
arraySNP
-
-
RMD2
-
PubMed: Traverso 2008
3-generation family, young daugther carries deletion
F
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.13dup
r.(?)
p.(Glu5GlyfsTer19)
Maternal (confirmed)
-
pathogenic
g.8775575dup
g.8733889dup
13insG
-
CAV3_000070
-
PubMed: Traverso 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Traverso 2008
unaffected mother/brother 18487559-Pat1
-
-
Italy
-
-
-
-
-
2
Johan den Dunnen
-/.
1
c.27C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775589C>T
g.8733903C>T
-
-
CAV3_000024
-
-
-
rs1974763
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-/.
1
c.27C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775589C>T
g.8733903C>T
-
-
CAV3_000024
-
PubMed: Koopmann 2007
-
rs1974763
Germline
-
-
16/78
-
-
DNA
SEQ
-
-
BRGDA
-
PubMed: Koopmann 2007
-
-
-
Netherlands
-
-
-
-
-
16
Johan den Dunnen
-/.
1
c.27C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775589C>T
g.8733903C>T
-
-
CAV3_000024
-
-
-
rs1974763
Germline
-
1/42
-
-
-
DNA
SEQ
-
-
LGMD
-
-
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Ottie O'Brien
-/.
1
c.27C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775589C>T
g.8733903C>T
-
-
CAV3_000024
-
-
-
rs1974763
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
-/.
1
c.27C>T
r.(?)
p.(=)
Unknown
-
benign
g.8775589C>T
g.8733903C>T
-
-
CAV3_000024
from website {DBsub-Emory}
-
-
rs1974763
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-/.
-
c.27C>T
r.(?)
p.(Leu9=)
Unknown
-
benign
g.8775589C>T
g.8733903C>T
CAV3(NM_033337.2):c.27C>T (p.L9=), CAV3(NM_033337.3):c.27C>T (p.L9=)
-
CAV3_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.27C>T
r.(?)
p.(Leu9=)
Unknown
-
benign
g.8775589C>T
g.8733903C>T
CAV3(NM_033337.2):c.27C>T (p.L9=), CAV3(NM_033337.3):c.27C>T (p.L9=)
-
CAV3_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.28G>A
r.(?)
p.(Glu10Lys)
Unknown
-
VUS
g.8775590G>A
g.8733904G>A
CAV3(NM_033337.3):c.28G>A (p.E10K)
-
CAV3_000125
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.39C>T
r.(?)
p.(Ile13=)
Unknown
-
likely benign
g.8775601C>T
g.8733915C>T
-
-
CAV3_000104
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.40G>A
r.(?)
p.(Val14Ile)
Parent #1
-
VUS
g.8775602G>A
g.8733916G>A
-
-
CAV3_000067
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
1
c.40G>A
r.(?)
p.(Val14Ile)
Parent #1
-
VUS
g.8775602G>A
g.8733916G>A
-
-
CAV3_000067
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-/.
-
c.40G>A
r.(?)
p.(Val14Ile)
Unknown
-
benign
g.8775602G>A
g.8733916G>A
CAV3(NM_033337.2):c.40G>A (p.V14I), CAV3(NM_033337.3):c.40G>A (p.V14I)
-
CAV3_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.40G>A
r.(?)
p.(Val14Ile)
Unknown
-
VUS
g.8775602G>A
g.8733916G>A
CAV3(NM_033337.2):c.40G>A (p.V14I), CAV3(NM_033337.3):c.40G>A (p.V14I)
-
CAV3_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.40G>A
r.(?)
p.(Val14Ile)
Unknown
-
likely pathogenic
g.8775602G>A
g.8733916G>A
-
-
CAV3_000067
-
PubMed: Izumi 2015
, Izumi 2020 (submitted)
-
rs121909281
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
42 gene panel
MD
Dys149-1
PubMed: Izumi 2015
, Izumi 2020 (submitted)
-
M
-
Japan
-
-
-
-
-
1
Rumiko Izumi
-?/.
-
c.40G>A
r.(?)
p.(Val14Ile)
Unknown
-
likely benign
g.8775602G>A
g.8733916G>A
CAV3(NM_033337.2):c.40G>A (p.V14I), CAV3(NM_033337.3):c.40G>A (p.V14I)
-
CAV3_000067
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.40G>C
r.(?)
p.(Val14Leu)
Parent #1
-
pathogenic
g.8775602G>C
g.8733916G>C
-
-
CAV3_000058
not in 400 control chromosomes
PubMed: Cronck 2007
,
OMIM:var0020
-
-
Germline
-
-
-
-
-
DNA
DHPLC, SEQ
-
-
SIDS
-
PubMed: Cronck 2007
,
OMIM:var0020
-
M
-
United States
African
6m
-
-
-
1
Johan den Dunnen
?/.
-
c.58A>C
r.(?)
p.(Lys20Gln)
Unknown
-
VUS
g.8775620A>C
-
-
-
CAV3_000130
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.79C>G
r.(?)
p.(Arg27Gly)
Maternal (confirmed)
-
pathogenic
g.8775641C>G
g.8733955C>G
-
-
CAV3_000031
-
PubMed: Voermans 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Voermans 2008
son of 61941.1
M
-
Netherlands
-
>16y
-
-
-
1
Ieke Ginjaar
+/.
1
c.79C>G
r.(?)
p.(Arg27Gly)
Parent #1
-
pathogenic
g.8775641C>G
g.8733955C>G
-
-
CAV3_000031
-
PubMed: Voermans 2008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Voermans 2008
mother of 61941.2
F
-
Netherlands
-
>37y
-
-
-
1
Ieke Ginjaar
+/.
-
c.79C>G
r.(?)
p.(Arg27Gly)
Unknown
-
pathogenic
g.8775641C>G
-
CAV3(NM_033337.2):c.79C>G (p.(Arg27Gly))
-
CAV3_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
de novo, in patient
PubMed: Carbone
,
OMIM:var0007
-
-
De novo
-
-
BsaI-
-
-
DNA
SEQ
-
-
hCK
-
PubMed: Carbone
,
OMIM:var0007
-
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Paternal (confirmed)
-
pathogenic
g.8775642G>A
g.8733956G>A
77G>A (R26Q)
-
CAV3_000007
not in 400 control chromosomes
PubMed: Betz 2001
,
OMIM:var0007
-
-
Germline
-
-
BsaI-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Vorgerd 1999
father of 11431690-FamBIII1
M
-
Germany
-
>48y
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
77G>A (R26Q)
-
CAV3_000007
not in 200 control chromosomes; de novo, in patient
PubMed: Vorgerd 2001
,
OMIM:var0007
-
-
De novo
-
-
-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Vorgerd 2001
-
M
-
Germany
-
>24y
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Tateyama
,
OMIM:var0007
-
-
Germline
-
-
BsaI-
-
-
DNA
SEQ
-
-
?
-
PubMed: Tateyama
,
OMIM:var0007
-
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Figarella-Branger
,
OMIM:var0007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Figarella-Branger
,
OMIM:var0007
-
F
-
-
-
>71y
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Yabe
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Yabe
8 affecteds 4 generation family
-
-
Japan
-
-
-
-
-
4
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
de novo, in patient
PubMed: Carbone
,
OMIM:var0007
-
-
De novo
-
-
BsaI-
-
-
DNA
SEQ
-
-
hCK
-
PubMed: Carbone
,
OMIM:var0007
-
F
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Yabe
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Yabe
3 affecteds 3 generation family
-
-
Japan
-
-
-
-
-
3
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Fee
,
PubMed: So
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Fee
,
PubMed: So
16 affecteds large family
-
-
United States
-
-
-
-
-
16
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Fulizio
,
OMIM:var0007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
hCK
-
PubMed: Fulizio
,
OMIM:var0007
mother carrier
M
-
Italy
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Aboumousa 2008
-
-
Germline
-
-
BsaI-
-
-
DNA
SEQ
-
-
LGMD
-
-
relative of 18583131.H3
F
-
United Kingdom (Great Britain)
-
>22y
-
-
-
1
Ottie O'Brien
+/.
1
c.80G>A
r.80g>a
p.Arg27Gln
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
77G>A
-
CAV3_000007
-
PubMed: Roberts 2006
,
PubMed: Lo 2008
-
-
Germline
-
-
BsaI-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LGMD
-
PubMed: Roberts 2006
,
PubMed: Lo 2008
-
F
-
Australia
white
-
-
-
-
1
Maria Chiotis
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Maternal (confirmed)
-
pathogenic
g.8775642G>A
g.8733956G>A
Arg26Gln
-
CAV3_000007
-
PubMed: Schara 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Schara 2002
2-generation family, affected mother and son; son
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
Arg26Gln
-
CAV3_000007
-
PubMed: Schara 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Schara 2002
2-generation family, affected mother and son; mother
F
-
Germany
-
>37y
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
control chromosomes
PubMed: Carbone
,
OMIM:var0007
-
-
Germline
-
0/204
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Carbone
,
OMIM:var0007
-
-
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Paternal (confirmed)
-
pathogenic
g.8775642G>A
g.8733956G>A
77G>A (R26Q)
-
CAV3_000007
not in 400 control chromosomes
PubMed: Betz 2001
,
OMIM:var0007
-
-
Germline
-
-
BsaI-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Vorgerd 1999
sister of 11431690-FamBIII1
F
-
Germany
-
>17y
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Paternal (confirmed)
-
pathogenic
g.8775642G>A
g.8733956G>A
77G>A (R26Q)
-
CAV3_000007
not in 400 control chromosomes
PubMed: Betz 2001
,
OMIM:var0007
-
-
Germline
-
-
BsaI-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Vorgerd 1999
3-generation family, 5 affecteds
M
-
Germany
-
>20y
-
-
-
2
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Aboumousa 2008
-
-
Germline
-
-
BsaI-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Aboumousa 2008
relative of 18583131.H2
F
-
United Kingdom (Great Britain)
-
>28y
-
-
-
1
Ottie O'Brien
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Paternal (confirmed)
-
pathogenic
g.8775642G>A
g.8733956G>A
77G>A (R26Q)
-
CAV3_000007
not in 400 control chromosomes
PubMed: Betz 2001
,
OMIM:var0007
-
-
Germline
-
-
BsaI-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: Vorgerd 1999
aunt of 11431690-FamBIII1
F
-
Germany
-
>46y
-
-
-
1
Johan den Dunnen
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Unknown
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
LGMD
-
-
-
M
-
Canada
Asian
-
-
-
-
1
Tom Winder
+/.
1
c.80G>A
r.(?)
p.Arg27Gln
Unknown
-
NA
g.8775642G>A
g.8733956G>A
R26Q
-
CAV3_000007
expression cloning C2C12 cells, CAV3-GFP retention in Golgi influencing MG53/DYSF localisation, defective membrane repair
PubMed: Cai 20029
-
-
In vitro (cloned)
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
Healthy/Control, LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
no second variant
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
-
c.80G>A
r.(?)
p.(Arg27Gln)
Paternal (confirmed)
-
pathogenic (dominant)
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Hiraide 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
BMD, RMD2
FamPatIII3
PubMed: Hiraide 2019
3-generation family, 3 affecteds mixed phenotype, carrier BMD mother
M
-
Japan
-
-
-
-
-
4
Johan den Dunnen
+/.
-
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic (dominant)
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Hiraide 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RMD2
FamPatI2/II1
PubMed: Marston 2015
PatI2 (grandmother) and PatII1 (father)
F;M
-
Jamaica
-
-
-
-
-
2
Johan den Dunnen
+/.
-
c.80G>A
r.(?)
p.(Arg27Gln)
Paternal (confirmed)
-
pathogenic (dominant)
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Hiraide 2019
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
RMD2
FamPatIII1
PubMed: Hiraide 2019
sister, carrier BMD
F
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.80G>A
r.(?)
p.(Arg27Gln)
Unknown
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Parent #1
-
pathogenic (dominant)
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
PubMed: Magri 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
Fam5Pat1
PubMed: Magri 2015
-
F
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.80G>A
r.(?)
p.(Arg27Gln)
Unknown
-
likely pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
combination of variants not reported
PubMed: Topf 2020
-
-
Germline
-
1/1001 cases
-
-
-
DNA
SEQ, SEQ-NG
-
WES
LGMD
-
PubMed: Topf 2020
analysis 1001 patients with unexplained limb-girdle weakness
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.80G>A
r.(?)
p.(Arg27Gln)
Unknown
-
pathogenic
g.8775642G>A
-
-
-
CAV3_000007
-
-
-
rs116840778
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.80G>A
r.(?)
p.(Arg27Gln)
Unknown
-
pathogenic
g.8775642G>A
g.8733956G>A
-
-
CAV3_000007
-
MDCRC 2021, submitted
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG
-
screened DMD, CAV3, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1
DMD
MDCRC/0119/B-131
MDCRC 2021, submitted
-
M
no
India
-
-
-
yes
-
1
Lakshmi Bremadesam
?/.
1
c.80G>C
r.(?)
p.(Arg27Pro)
Paternal (inferred)
-
VUS
g.8775642G>C
g.8733956G>C
-
-
CAV3_000063
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
-
M
-
Germany
-
-
-
-
-
1
Wolfram Kress
+/.
1
c.84C>A
r.(?)
p.(Asp28Glu)
Parent #1
-
pathogenic
g.8775646C>A
g.8733960C>A
-
-
CAV3_000010
-
PubMed: Fischer
,
PubMed: Ullrich 2011
,
OMIM:var0008
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Ullrich 2011
6 generation family, 14 affecteds
-
-
Germany
-
-
-
-
-
14
Johan den Dunnen
+/.
1
c.84C>A
r.(?)
p.(Asp28Glu)
Parent #1
-
pathogenic (dominant)
g.8775646C>A
g.8733960C>A
-
-
CAV3_000010
-
PubMed: Bennett 2009
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
B1141.1
PubMed: Bennett 2009
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.85C>A
r.(?)
p.(Pro29Thr)
Maternal (confirmed)
-
pathogenic
g.8775647C>A
g.8733961C>A
-
-
CAV3_000020
-
PubMed: van den Bergh
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
RMD2
-
PubMed: van den Bergh
Belgium/Italian descent (mother affected carrier)
F
-
Belgium;Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.86C>T
r.(?)
p.(Pro29Leu)
Parent #1
-
pathogenic
g.8775648C>T
g.8733962C>T
-
-
CAV3_000013
-
PubMed: Merlini
,
PubMed: Capanni
,
OMIM:var0012
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
hCK
-
PubMed: Merlini
,
PubMed: Capanni
,
OMIM:var0012
mother and son
M;F
-
Italy
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.86C>T
r.(?)
p.(Pro29Leu)
Parent #1
-
pathogenic
g.8775648C>T
g.8733962C>T
-
-
CAV3_000013
control chromosomes
PubMed: Merlini
,
PubMed: Capanni
,
OMIM:var0012
-
-
Germline
-
0/300
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Merlini
,
PubMed: Capanni
,
OMIM:var0012
-
-
-
Italy
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.95T>C
r.(?)
p.(Ile32Thr)
Unknown
-
VUS
g.8775657T>C
g.8733971T>C
-
-
CAV3_000105
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.99C>A
r.(?)
p.(Asn33Lys)
Unknown
-
likely pathogenic
g.8775661C>A
g.8733975C>A
-
-
CAV3_000106
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.99C>A
r.(?)
p.(Asn33Lys)
Unknown
-
likely pathogenic
g.8775661C>A
g.8733975C>A
-
-
CAV3_000106
combination of variants not reported
PubMed: Topf 2020
-
-
Germline
-
1/1001 cases
-
-
-
DNA
SEQ, SEQ-NG
-
WES
LGMD
-
PubMed: Topf 2020
analysis 1001 patients with unexplained limb-girdle weakness
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.99C>A
r.(?)
p.(Asn33Lys)
Parent #1
-
pathogenic (dominant)
g.8775661C>A
g.8733975C>A
-
-
CAV3_000106
-
PubMed: Granger 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
MYOP
Pat8
PubMed: Granger 2022
-
F
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.99C>G
r.(?)
p.(Asn33Lys)
Parent #1
-
pathogenic
g.8775661C>G
g.8733975C>G
-
-
CAV3_000038
-
PubMed: Fulizio
,
OMIM:var0014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
PubMed: Fulizio
,
OMIM:var0014
mother and daugther
F;F
-
Italy
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.99C>G
r.(?)
p.(Asn33Lys)
Parent #1
-
pathogenic
g.8775661C>G
g.8733975C>G
-
-
CAV3_000038
-
PubMed: Sugie 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Sugie 2005
mother and son
M;F
-
Japan
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.99C>G
r.(?)
p.(Asn33Lys)
Parent #1
-
pathogenic
g.8775661C>G
g.8733975C>G
-
-
CAV3_000038
control chromosomes
PubMed: Sugie 2005
-
-
Germline
-
0/200
-
-
-
DNA
SEQ
-
-
Healthy/Control
-
PubMed: Sugie 2005
-
-
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.99C>G
r.(?)
p.(Asn33Lys)
Unknown
-
likely pathogenic
g.8775661C>G
-
-
-
CAV3_000038
-
-
-
rs1008642
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.99C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775661C>T
g.8733975C>T
-
-
CAV3_000016
-
-
-
rs1008642
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
1
Andreas Laner
-/.
1
c.99C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775661C>T
g.8733975C>T
-
-
CAV3_000016
-
PubMed: Koopmann 2007
-
rs1008642
Germline
-
-
16/78
-
-
DNA
SEQ
-
-
BRGDA
-
PubMed: Koopmann 2007
-
-
-
Netherlands
-
-
-
-
-
16
Johan den Dunnen
-/.
1
c.99C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775661C>T
g.8733975C>T
-
-
CAV3_000016
-
-
-
rs1008642
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
relative of 18583131.H3
F
-
United Kingdom (Great Britain)
-
>22y
-
-
-
1
Ottie O'Brien
-/.
1
c.99C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775661C>T
g.8733975C>T
-
-
CAV3_000016
-
PubMed: Hayashi
-
rs1008642
Germline
-
?
-
-
-
DNA
SSCA
-
-
Healthy/Control
-
PubMed: Hayashi
-
-
-
Japan
-
-
-
-
-
1
Johan den Dunnen
-/.
1
c.99C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775661C>T
g.8733975C>T
-
-
CAV3_000016
-
PubMed: Fee
-
rs1008642
Germline
-
?
-
-
-
DNA
SSCA
-
-
Healthy/Control
-
PubMed: Fee
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
-/.
1
c.99C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775661C>T
g.8733975C>T
-
-
CAV3_000016
-
-
-
rs1008642
Germline
-
7/42
-
-
-
DNA
SSCA
-
-
LGMD
-
-
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
7
Ottie O'Brien
-/.
1
c.99C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775661C>T
g.8733975C>T
-
-
CAV3_000016
-
-
-
rs1008642
Germline
-
?
-
-
-
DNA
SSCA
-
-
Healthy/Control
-
-
-
-
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
-/.
1
c.99C>T
r.(?)
p.(=)
Parent #1
-
benign
g.8775661C>T
g.8733975C>T
-
-
CAV3_000016
-
-
-
rs1008642
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Aboumousa 2008
relative of 18583131.H2
F
-
United Kingdom (Great Britain)
-
>28y
-
-
-
1
Ottie O'Brien
-/.
1
c.99C>T
r.(?)
p.(=)
Unknown
-
benign
g.8775661C>T
g.8733975C>T
-
-
CAV3_000016
from website {DBsub-Emory}
-
-
rs1008642
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-/.
-
c.99C>T
r.(?)
p.(Asn33=)
Unknown
-
benign
g.8775661C>T
g.8733975C>T
CAV3(NM_033337.2):c.99C>T (p.N33=), CAV3(NM_033337.3):c.99C>T (p.N33=)
-
CAV3_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.99C>T
r.(?)
p.(Asn33=)
Unknown
-
benign
g.8775661C>T
g.8733975C>T
CAV3(NM_033337.2):c.99C>T (p.N33=), CAV3(NM_033337.3):c.99C>T (p.N33=)
-
CAV3_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.99C>T
r.(?)
p.(Asn33=)
Unknown
-
benign
g.8775661C>T
g.8733975C>T
CAV3(NM_033337.2):c.99C>T (p.N33=), CAV3(NM_033337.3):c.99C>T (p.N33=)
-
CAV3_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.99C>T
r.(?)
p.(Asn33=)
Unknown
-
benign
g.8775661C>T
g.8733975C>T
CAV3(NM_033337.2):c.99C>T (p.N33=), CAV3(NM_033337.3):c.99C>T (p.N33=)
-
CAV3_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
1
c.99C>T
r.(?)
p.(=)
Unknown
ACMG
likely benign
g.8775661C>T
-
-
-
CAV3_000016
-
-
31709
rs1008642
De novo
-
-
-
-
-
DNA
SEQ-NG-I
Blood
WES
LGMD1C
Patient 1
PubMed: Zehravi 2021
-
M
yes
Pakistan
Asian
-
-
Yes
No
1
Mehwish Zehravi
-/.
1
c.99C>T
r.(=)
p.(=)
Unknown
ACMG
likely benign
g.8775661C>T
g.8733975C>T
-
-
CAV3_000016
-
Pub Med: Zehravi, 2020, submitted
31709
rs1008642
De novo
?
-
-
-
-
DNA
SEQ-NG-I
Blood
WES
LGMD1C
Patient 3
PubMed: Zehravi 2021
-
M
yes
Pakistan
Asian
-
-
Yes
None
1
Mehwish Zehravi
?/.
-
c.99del
r.(?)
p.(Asn33Lysfs*4)
Unknown
ACMG
VUS
g.8775661del
g.8733975del
-
-
CAV3_000126
-
PubMed: Isbister 2020
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
-
CM
AJI1
PubMed: Isbister 2020
-
-
-
Australia
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.100G>A
r.100g>a
p.Glu34Lys
Parent #1
-
pathogenic
g.8775662G>A
g.8733976G>A
-
-
CAV3_000040
not in 200 control chromosomes
PubMed: Lo 2008
, Lo WMS2005 L.P.1.02
-
-
Germline
-
-
MnlI-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
LGMD
-
PubMed: Lo 2008
, Lo WMS2005 L.P.1.02
-
F
-
Australia
white
-
-
-
-
1
Maria Chiotis
+?/.
-
c.100G>A
r.(?)
p.(Glu34Lys)
Parent #1
-
likely pathogenic (recessive)
g.8775662G>A
g.8733976G>A
-
-
CAV3_000040
-
PubMed: Punetha 2016
-
-
Germline/De novo (untested)
-
1/94 cases
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel, WES
LGMD
Pat25
PubMed: Punetha 2016
analysis 94 myopathy cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
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