Global Variome shared LOVD
CAPN3 (calpain 3, (p94))
LOVD v.3.0 Build 30b [
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Curator:
Johan den Dunnen
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Full data view for gene CAPN3
This database is one of the gene variant databases from the
Leiden Muscular Dystrophy pages
The variants shown are described using the NM_000070.2 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
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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4095 entries on 41 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
+/.
16i_24_
c.(1914+1_1915-1)_*544{0}
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.(42700523_42701500)_(42704515_?)del
g.(42408325_42409302)_(42412317_?)del
del ex17-24
-
CAPN3_000640
-
PubMed: Patel 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
29-gene panel
MD
P?
PubMed: Patel 2021
patient
-
-
India
India-W
-
-
-
-
1
Johan den Dunnen
+/.
16i_24_
c.(1914+1_1915-1)_*544{0}
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.(42700523_42701500)_(42704515_?)del
g.(42408325_42409302)_(42412317_?)del
del ex17-24
-
CAPN3_000640
-
PubMed: Patel 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
29-gene panel
MD
P?
PubMed: Patel 2021
patient
-
-
India
India-W
-
-
-
-
1
Johan den Dunnen
+/.
16i_24_
c.(1914+1_1915-1)_*544{0}
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.(42700523_42701500)_(42704515_?)del
g.(42408325_42409302)_(42412317_?)del
del ex17-24
-
CAPN3_000640
-
PubMed: Patel 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
29-gene panel
MD
P?
PubMed: Patel 2021
patient
-
-
India
India-W
-
-
-
-
1
Johan den Dunnen
-/.
1
c.-763C>G
r.(?)
p.(=)
Parent #1
-
benign
g.42651241C>G
g.42359043C>G
-
-
CAPN3_000177
-
-
-
-
Germline
-
1/76
-
-
-
DNA
DHPLC
-
-
?
-
-
based on AC012651.8 nt 39361
-
-
Germany
-
-
-
-
-
1
Gabriele Dekomien
-/.
1
c.-719A>T
r.(?)
p.(=)
Parent #1
-
benign
g.42651285A>T
g.42359087A>T
-
-
CAPN3_000176
-
-
-
-
Germline
-
4/76
-
-
-
DNA
DHPLC
-
-
?
-
-
based on AC012651.8 nt 39415
-
-
Germany
-
-
-
-
-
4
Gabriele Dekomien
?/.
1
c.-552G>A
r.(?)
p.(=)
Parent #1
-
VUS
g.42651452G>A
g.42359254G>A
-
-
CAPN3_000262
-
PubMed: Todorova 2005
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
PubMed: Todorova 2005
potential promoter mutation
M
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
?/.
1
c.-408T>C
r.(?)
p.?
Parent #2
-
VUS
g.42651596T>C
g.42359398T>C
-
-
CAPN3_000049
-
PubMed: Richard 1995
-
-
Germline
-
-
-
-
-
DNA
HD, SEQ
-
-
LGMD
07720071-M42
PubMed: Richard 1995
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
-/.
1
c.-408T>C
r.(?)
p.(=)
Parent #1
-
benign
g.42651596T>C
g.42359398T>C
-
-
CAPN3_000049
-
PubMed: Richard 1999
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
?
-
PubMed: Richard 1999
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-/.
1
c.-408T>C
r.(?)
p.(=)
Parent #1
-
benign
g.42651596T>C
g.42359398T>C
-
-
CAPN3_000049
-
-
-
-
Germline
-
4/76
-
-
-
DNA
DHPLC
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
4
Gabriele Dekomien
-/.
1
c.-322A>C
r.(?)
p.(=)
Parent #1
-
benign
g.42651682A>C
g.42359484A>C
-
-
CAPN3_000175
-
-
-
-
Germline
-
2/76
-
-
-
DNA
DHPLC
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
2
Gabriele Dekomien
+/.
_1_1i
c.(?_-306)_(309+1_310-1)del
r.0?
p.0?
Parent #1
-
pathogenic
g.(?_42651698)_(42652313_42676680)del
-
-
-
CAPN3_000447
exon 1 deletion, unknown variant 2nd allele
-
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
LGMD
-
-
-
-
-
(France)
-
-
-
-
-
1
Nicolas Levy
-/.
1
c.-104G>C
r.-104g>c
p.(=)
Parent #1
-
benign
g.42651900G>C
g.42359702G>C
-
-
CAPN3_000171
-
-
-
-
Germline
-
3/76
-
-
-
DNA
DHPLC
-
-
?
-
-
-
-
-
Germany
-
-
-
-
-
3
Gabriele Dekomien
?/.
1
c.-104G>C
r.-104g>c
p.=
Parent #1
-
VUS
g.42651900G>C
g.42359702G>C
-
-
CAPN3_000171
-
-
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
?
-
-
-
M
-
-
-
-
-
-
-
1
Rosetta Marotta
-?/.
_1
-
r.(?)
p.(=)
Paternal (confirmed)
-
likely benign
g.42642385C>T
g.42350187C>T
-
-
CAPN3_000893
-
PubMed: Macias 2021
-
rs1358635511
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
LGMD
Pat214;A5(II1)
PubMed: Fichna 2018
,
PubMed: Macias 2021
2-eneration family, affected sister/brother
F
-
Poland
-
-
-
-
-
2
Johan den Dunnen
-?/.
-
-
r.(?)
p.(=)
Maternal (confirmed)
-
likely benign
g.42642677A>G
g.42350479A>G
-
-
CAPN3_000893
-
PubMed: Macias 2021
-
rs118166665
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
LGMD
A13(II12)
PubMed: Macias 2021
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
Poland
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
-
r.(?)
p.(=)
Paternal (confirmed)
-
likely benign
g.42646392C>T
g.42354194C>T
-
-
CAPN3_000893
-
PubMed: Macias 2021
-
rs148085740
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES
LGMD
A13(II12)
PubMed: Macias 2021
2-generation family, 1 affected, unaffected heterozygous carrier parents
F
-
Poland
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
-
r.(?)
p.(=)
Unknown
-
likely benign
g.42651241C>G
g.42359043C>G
-763C>G
-
CAPN3_000177
-
PubMed: Macias 2021
-
rs140082921
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
LGMD
Pat160a;A9(II2)
PubMed: Fichna 2018
2-generation family, 2 affected sisters, unaffected heterozygous carrier parents/
F
-
Poland
-
-
-
-
-
2
Johan den Dunnen
+?/.
16i_24_
c.(1914+1_1915-1)_*544{0}
r.?
p.?
Unknown
-
likely pathogenic
g.(42700523_42701500)_(42704515_?)del
g.(42408325_42409302)_(42412317_?)del
chr15:42701501-?_42703971+?del
-
CAPN3_000879
no variant 2nd chromosome
PubMed: Ganapathy 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
TruSight One panel
?
S-246
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
1
Johan den Dunnen
+/.
1i_24_
c.(309+1_310-1)_*544{0}
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.(42652313_42676680)_(42704515_?)del
-
-
-
CAPN3_000445
originally scored as homozygous c.2115+4T>A
Ginjaar WMS2008,
PubMed: Ten Dam 2019
-
-
Germline
-
-
-
-
-
DNA
DGGE, MLPA, SEQ
-
-
LGMD
-
Ginjaar WMS2008,
PubMed: Ten Dam 2019
-
F
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
+/.
-
c.(?_310-252)_(1115+252_?del
r.?
p.?
Parent #1
-
pathogenic (recessive)
g.(?_42676429)_(42686791_?)del
-
hg19 15:42676429-42686791
-
CAPN3_000846
10362 kb deletion
PubMed: Peric 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
Pat13
PubMed: Peric 2019
-
F
-
Serbia
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.-306_(309+252_?){0}
r.?
p.?
Parent #1
-
pathogenic (recessive)
g.(?_42640049)_(42652564_?)del
-
chr15:42640049-42652564
-
CAPN3_000844
12.5 kb deletion; 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
+/.
_1_9i
c.-306_1193+1_1194-1{0}
r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(?_42651698)_(42689076_42691689)del
g.(?_42359500)_(42396878_42399491)del
del_ex1-9
-
CAPN3_000847
combination of variants not reported
PubMed: Barp 2020
-
-
Germline
-
1/57 cases
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Barp 2020
analysis 57 LGMD2A cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
5i
c.?
r.(?_802)_(945_?)del
p.?
Parent #2
-
pathogenic
g.?
-
-
-
CAPN3_000000
no expression of exon 6 sequences
PubMed: Krahn 2007
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, DHPLC, SEQ
-
-
LGMD
-
PubMed: Krahn 2007
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
5i
c.?
r.802_945del
p.Asp268_Arg315del
Parent #1
-
pathogenic
g.?
-
-
-
CAPN3_000000
DNA change not described (possibly c.802-?_945+?del)
Stehlikova ESHG2009 P16.45
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
Stehlikova ESHG2009 P16.45
-
-
-
Czech Republic
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.?
r.?
p.?
Parent #1
-
pathogenic (recessive)
g.?
-
c.25C>T (Q9Ter)
-
IGF1R_000000
-
PubMed: Yu 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
candidate 420-gene panel
LGMD
P24
PubMed: Yu 2017
analysis 180 LGMD patients
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.?
r.(?)
p.?
Paternal (confirmed)
-
pathogenic (recessive)
g.?
-
c.1093A>T (I365F)
-
IGF1R_000000
-
PubMed: Yu 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
candidate 420-gene panel
LGMD
P172
PubMed: Yu 2017
analysis 180 LGMD patients
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.?
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.?
-
c.1829C>T (A610V)
-
IGF1R_000000
-
PubMed: Yu 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
candidate 420-gene panel
LGMD
P172
PubMed: Yu 2017
analysis 180 LGMD patients
F
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.1A>G
r.(?)
p.(Met1?)
Parent #1
-
pathogenic (recessive)
g.42652004A>G
g.42359806A>G
(Met1Val)
-
CAPN3_000933
-
PubMed: Stehlikova 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
LGMD-Pat41
PubMed: Stehlikova 2014
-
-
-
Czech Republic
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.7del
r.(?)
p.(Thr3Profs*54)
Both (homozygous)
-
likely pathogenic (recessive)
g.42652010del
g.42359812del
7delA
-
CAPN3_000685
-
PubMed: Izumi 2015
, Izumi 2020 (submitted)
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
42 gene panel
MD
Dys195-1
PubMed: Izumi 2015
-
F
-
Egypt
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.8C>A
r.(?)
p.(Thr3Asn)
Parent #1
-
pathogenic (recessive)
g.42652011C>A
g.42359813C>A
-
-
CAPN3_000332
-
PubMed: Sáenz 2005
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
LGMD
-
PubMed: Sáenz 2005
-
-
-
Finland
-
-
-
-
-
1
Amets Sáenz
+/.
1
c.8C>A
r.(?)
p.(Thr3Asn)
Parent #2
-
pathogenic (recessive)
g.42652011C>A
g.42359813C>A
-
-
CAPN3_000332
-
PubMed: Sáenz 2005
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
LGMD
-
PubMed: Sáenz 2005
-
-
-
Finland
-
-
-
-
-
1
Amets Sáenz
-/.
1
c.9C>T
r.(?)
p.(=)
Parent #1
-
benign
g.42652012C>T
g.42359814C>T
-
-
CAPN3_000050
determined on >100 chromosomes
PubMed: Richard 1999
-
-
Germline
-
<0.01
-
-
-
DNA
SSCA
-
-
?
-
PubMed: Richard 1999
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.10G>A
r.(?)
p.(Val4Ile)
Parent #1
-
pathogenic
g.42652013G>A
g.42359815G>A
-
-
CAPN3_000051
-
PubMed: Richard 1999
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
LGMD
-
PubMed: Richard 1999
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.10G>A
r.(?)
p.(Val4Ile)
Parent #1
-
pathogenic (recessive)
g.42652013G>A
g.42359815G>A
-
-
CAPN3_000051
-
PubMed: Sáenz 2005
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
LGMD
-
PubMed: Sáenz 2005
-
-
-
Spain
-
-
-
-
-
1
Amets Sáenz
?/.
1
c.10G>A
r.(?)
p.(Val4Ile)
Parent #1
-
VUS
g.42652013G>A
g.42359815G>A
-
-
CAPN3_000051
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
-
c.10G>A
r.(?)
p.(Val4Ile)
Unknown
-
VUS
g.42652013G>A
g.42359815G>A
-
-
CAPN3_000051
-
PubMed: Rini 2025
,
Journal: Rini 20251
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
-
WES
LGMD
Pat1
PubMed: Rini 2025
,
Journal: Rini 20251
-
-
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.19_23del
r.(?)
p.(Ala7Cysfs*8)
Parent #1
-
pathogenic
g.42652022_42652026del
g.42359824_42359828del
-
-
CAPN3_000020
-
PubMed: Richard 1997
,
PubMed: Dincer 1997
-
-
Germline
-
-
HpaII-
-
-
DNA
SEQ
-
-
LGMD
09150160-T10
PubMed: Richard 1997
,
PubMed: Dincer 1997
4-generation family, parents 1st cousins, 1 affected
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.19_23del
r.(?)
p.(Ala7Cysfs*8)
Parent #2
-
pathogenic
g.42652022_42652026del
g.42359824_42359828del
-
-
CAPN3_000020
-
PubMed: Richard 1997
,
PubMed: Dincer 1997
-
-
Germline
-
-
HpaII-
-
-
DNA
SEQ
-
-
LGMD
09150160-T10
PubMed: Richard 1997
,
PubMed: Dincer 1997
4-generation family, parents 1st cousins, 1 affected
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.19_23del
r.(?)
p.(Ala7CysfsTer8)
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.42652022_42652026del
g.42359824_42359828del
19_23delGCATC
-
CAPN3_000020
ACMG PVS1 PM2
PubMed: Cavdarli 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
gene panel
NMD
D42
PubMed: Cavdarli 2023
analysis 146 neuromuscular disease patients
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
c.19_23del
r.(?)
p.(Ala7CysfsTer8)
Both (homozygous)
ACMG
likely pathogenic (recessive)
g.42652022_42652026del
g.42359824_42359828del
c.19_23delGCATC
-
CAPN3_000020
ACMG PVS1 PM2
PubMed: Cavdarli 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
47-gene panel
MD
D42
PubMed: Cavdarli 2023
analysis 67 patients muscular dystrophy/myopathy (not DMD)
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.19_23del
r.(?)
p.(Ala7CysfsTer8)
Both (homozygous)
-
pathogenic (recessive)
g.42652022_42652026del
g.42359824_42359828del
-
-
CAPN3_000020
-
PubMed: Balci 2006
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
Pat2
PubMed: Balci 2006
-
M
yes
Turkey
-
-
-
-
-
1
Pervin Dincer
?/.
1
c.41C>T
r.(?)
p.A14V
Parent #1
-
VUS
g.42652044C>T
g.42359846C>T
-
-
CAPN3_000562
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.55+1G>A
r.spl
p.?
Paternal (confirmed)
-
pathogenic (recessive)
g.42652059G>A
g.42359861G>A
-
-
CAPN3_000724
Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message.
PubMed: Yu 2017
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
candidate 420-gene panel
LGMD
P138
PubMed: Yu 2017
analysis 180 LGMD patients
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.59del
r.(?)
p.(Pro20Glnfs*37)
Paternal (inferred)
-
pathogenic
g.42652062del
g.42359864del
59delC
-
CAPN3_000530
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
-
F
-
(Italy)
white
-
-
-
-
1
Marina Fanin
+/.
1
c.59del
r.(?)
p.(Pro20Glnfs*37)
Maternal (inferred)
-
pathogenic
g.42652062del
g.42359864del
59delC
-
CAPN3_000530
-
-
-
-
Germline
yes
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
-
F
-
(Italy)
white
-
-
-
-
1
Marina Fanin
+/.
1
c.59del
r.(?)
p.(Pro20Glnfs*37)
Unknown
-
pathogenic (recessive)
g.42652062del
g.42359864del
-
-
CAPN3_000530
combination of variants not reported
PubMed: Barp 2020
-
-
Germline
-
2/57 cases
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Barp 2020
analysis 57 LGMD2A cases
-
-
-
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.60del
r.(?)
p.(Pro22Glnfs*35)
Both (homozygous)
-
pathogenic (recessive)
g.42652063del
g.42359865del
60delA
-
CAPN3_000052
-
Ginjaar WMS2005,
PubMed: Ten Dam 2019
-
-
Germline
-
-
BsrI+
-
-
DNA
DGGE
-
-
LGMD
-
Ginjaar WMS2005,
PubMed: Ten Dam 2019
-
F
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
+/.
1
c.60del
r.(?)
p.(Pro22Glnfs*35)
Parent #1
-
pathogenic (recessive)
g.42652063del
g.42359865del
60delA
-
CAPN3_000052
-
PubMed: Sáenz 2005
-
-
Germline
-
-
BsrI+
-
-
DNA
SSCA
-
-
LGMD
-
PubMed: Sáenz 2005
-
-
-
Spain
-
-
-
-
-
1
Amets Sáenz
+/.
1
c.60del
r.(?)
p.(Pro22Glnfs*35)
Parent #1
-
pathogenic
g.42652063del
g.42359865del
60delA
-
CAPN3_000052
-
PubMed: Richard 1999
-
-
Germline
-
-
AvaII+
-
-
DNA
SSCA
-
-
LGMD
-
PubMed: Richard 1999
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.60del
r.(?)
p.(Pro22Glnfs*35)
Parent #1
-
pathogenic
g.42652063del
g.42359865del
60delA
-
CAPN3_000052
-
PubMed: de Paula
-
-
Germline
-
-
BbvI+
-
-
DNA
SSCA, DHPLC
-
-
LGMD
-
PubMed: de Paula
affecteds 2F, 2M
F
-
Brazil
-
-
-
-
-
4
Johan den Dunnen
+/.
1
c.60del
r.(?)
p.(Pro22Glnfs*35)
Parent #2
-
pathogenic (recessive)
g.42652063del
g.42359865del
60delA
-
CAPN3_000052
-
PubMed: Sáenz 2005
-
-
Germline
-
-
BsrI+
-
-
DNA
SSCA
-
-
LGMD
-
PubMed: Sáenz 2005
-
-
-
Spain
-
-
-
-
-
1
Amets Sáenz
+?/.
-
c.60delA
r.(?)
p.(Pro22Glnfs*35)
Unknown
-
likely pathogenic (recessive)
g.42652063delA
-
c.[1027G>T(;)60delA]; p.[(Glu343*)(;)(Asp591Ilefs*4)]
-
CAPN3_000916
-
PubMed: Escobar-Cedillo 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ-NG
Blood
-
LGMD
-
PubMed: Escobar-Cedillo 2021
-
F
-
Mexico
Mexican-mestizo
-
-
-
-
1
Luz Berenice Lopez-Hernandez
?/.
1
c.61G>T
r.(?)
p.(Gly21Trp)
Parent #1
-
VUS
g.42652064G>T
g.42359866G>T
-
-
CAPN3_000563
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.62G>A
r.(?)
p.(Gly21Glu)
Parent #2
-
pathogenic
g.42652065G>A
g.42359867G>A
-
-
CAPN3_000265
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
-
F
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
?/.
1
c.62G>A
r.(?)
p.(Gly21Glu)
Unknown
-
VUS
g.42652065G>A
g.42359867G>A
-
-
CAPN3_000265
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
distal beginning LGMD
M
-
(Germany)
European
-
-
-
-
1
Lab Müller-Reible
-/.
1
c.62G>A
r.(?)
p.(Gly21Glu)
Unknown
-
benign
g.42652065G>A
g.42359867G>A
-
-
CAPN3_000265
from website {DBsub-Emory}
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
Emory-?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-?/.
-
c.62G>A
r.(?)
p.(Gly21Glu)
Unknown
-
likely benign
g.42652065G>A
g.42359867G>A
CAPN3(NM_000070.2):c.62G>A (p.(Gly21Glu))
-
CAPN3_000265
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.70_71del
r.(?)
p.(Pro24Serfs*9)
Both (homozygous)
-
pathogenic (recessive)
g.42652073_42652074del
g.42359875_42359876del
-
-
CAPN3_000742
-
PubMed: Zhong 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
LGMD
Pat118
PubMed: Zhong 2021
analysis 124 patients
-
-
China
Han
-
-
-
-
1
Huahua Zhong
+/.
-
c.70_71del
r.(?)
p.(Pro24Serfs*9)
Parent #1
-
pathogenic (recessive)
g.42652073_42652074del
g.42359875_42359876del
-
-
CAPN3_000742
-
PubMed: Zhong 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
LGMD
Pat78
PubMed: Zhong 2021
analysis 124 patients
-
-
China
Han
-
-
-
-
1
Huahua Zhong
+/.
-
c.70_71del
r.(?)
p.(Pro24Serfs*9)
Parent #2
-
pathogenic (recessive)
g.42652073_42652074del
g.42359875_42359876del
-
-
CAPN3_000742
-
PubMed: Zhong 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ
-
-
LGMD
Pat77
PubMed: Zhong 2021
analysis 124 patients
-
-
China
Han
-
-
-
-
1
Huahua Zhong
+/.
1
c.77C>T
r.(?)
p.(Pro26Leu)
Parent #1
-
pathogenic
g.42652080C>T
g.42359882C>T
-
-
CAPN3_000053
-
PubMed: Richard 1999
-
-
Germline
-
-
NlaIV-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Richard 1999
-
-
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.77C>T
r.(?)
p.(Pro26Leu)
Parent #1
-
pathogenic
g.42652080C>T
g.42359882C>T
-
-
CAPN3_000053
-
PubMed: Piluso 2005
-
-
Germline
-
-
NsiI-;BspHi+
-
-
DNA
DHPLC
-
-
LGMD
-
PubMed: Piluso 2005
-
F
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.77C>T
r.(?)
p.(Pro26Leu)
Parent #1
-
pathogenic
g.42652080C>T
g.42359882C>T
-
-
CAPN3_000053
-
PubMed: Guglieri 2008
-
-
Germline
-
-
NlaIV-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Guglieri 2008
relative of 14663034b-XXXII.2
F
-
Italy
-
>43y
-
-
-
1
Johan den Dunnen
+/.
1
c.77C>T
r.(?)
p.(Pro26Leu)
Parent #1
-
pathogenic
g.42652080C>T
g.42359882C>T
-
-
CAPN3_000053
-
PubMed: Guglieri 2008
-
-
Germline
-
-
NlaIV-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Guglieri 2008
relative of 14663034b-XXXII.1
M
-
Italy
-
>45y
-
-
-
1
Johan den Dunnen
?/.
1
c.77C>T
r.(?)
p.(Pro26Leu)
Parent #1
-
VUS
g.42652080C>T
g.42359882C>T
-
-
CAPN3_000053
no second variant in CAPN3
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-/.
1
c.78G>A
r.(?)
p.(=)
Unknown
-
benign
g.42652081G>A
g.42359883G>A
-
-
CAPN3_000513
from website {DBsub-Emory}
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
Emory-?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-?/.
-
c.78G>A
r.(?)
p.(Pro26=)
Unknown
-
likely benign
g.42652081G>A
-
CAPN3(NM_000070.2):c.78G>A (p.(Pro26=))
-
CAPN3_000513
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.87C>G
r.(?)
p.(Ser29Arg)
Parent #1
-
VUS
g.42652090C>G
g.42359892C>G
-
-
CAPN3_000564
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.96T>C
r.(?)
p.(Thr32=)
Unknown
-
benign
g.42652099T>C
g.42359901T>C
CAPN3(NM_000070.3):c.96T>C (p.T32=)
-
CAPN3_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
1
c.96T>C
r.(?)
p.(=)
Parent #2
-
likely benign
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
-
-
-
rs1801496
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
-
M
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
-?/.
1
c.96T>C
r.(?)
p.(=)
Parent #1
-
likely benign
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
-
-
-
rs1801496
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
-
F
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
-?/.
1
c.96T>C
r.(?)
p.(=)
Parent #1
-
likely benign
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
-
-
-
rs1801496
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
-
-
M
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
-/.
1
c.96T>C
r.(?)
p.(=)
Parent #1
-
benign
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
-
PubMed: Richard 1995
-
rs1801496
Germline
-
-
HhaI-;AluI+
-
-
DNA
HD, SEQ
-
-
LGMD
07720071-M31
PubMed: Richard 1995
-
-
-
France
-
-
-
-
-
1
Johan den Dunnen
-/.
1
c.96T>C
r.(?)
p.(=)
Parent #1
-
benign
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
-
PubMed: Piluso 2005
-
rs1801496
Germline
-
-
HaeIII-
-
-
DNA
SEQ
-
-
?
-
PubMed: Piluso 2005
-
-
-
Italy
-
-
-
-
-
1
Johan den Dunnen
-/.
1
c.96T>C
r.(?)
p.(=)
Parent #1
-
benign
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
-
PubMed: Saenz 2005
-
rs1801496
Germline
-
0.12
HhaI-;AluI+
-
-
DNA
SEQ
-
-
?
-
PubMed: Saenz 2005
-
-
-
Spain
-
-
-
-
-
1
Johan den Dunnen
-/.
1
c.96T>C
r.(?)
p.(=)
Parent #1
-
benign
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
-
-
-
rs1801496
Germline
-
-
HhaI-;HgiaI+
-
-
DNA
SEQ
-
-
?
-
-
-
-
-
Netherlands
-
-
-
-
-
26
Ieke Ginjaar
-/.
1
c.96T>C
r.(?)
p.(=)
Parent #1
-
benign
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
-
PubMed: Krahn 2006
-
rs1801496
Germline
-
11/42
HhaI-;HgiaI+
-
-
DNA
DHPLC, SEQ
-
-
LGMD
-
PubMed: Krahn 2006
-
-
-
France
-
-
-
-
-
11
Johan den Dunnen
-?/.
1
c.96T>C
r.(?)
p.(=)
Unknown
-
likely benign
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
-
-
-
rs1801496
Germline
-
-
-
-
-
DNA
SEQ
-
-
MD
-
-
-
F
-
-
-
-
-
-
-
1
Rosetta Marotta
-/.
1
c.96T>C
r.(?)
p.(=)
Unknown
-
benign
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
from website {DBsub-Emory}
-
-
rs1801496
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
Emory-?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
1
c.96T>C
r.(?)
p.(=)
Unknown
-
VUS
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
-
-
-
rs1801496
Unknown
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
Pathak P 2009
-
M
no
India
-
-
-
-
-
1
Pankaj Pathak
-/.
-
c.96T>C
r.(?)
p.(Thr32=)
Unknown
-
benign
g.42652099T>C
g.42359901T>C
CAPN3(NM_000070.3):c.96T>C (p.T32=)
-
CAPN3_000061
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.96T>C
r.?
p.(Thr32=)
Unknown
-
VUS
g.42652099T>C
g.42359901T>C
-
-
CAPN3_000061
combination of variants not reported
PubMed: Barp 2020
-
-
Germline
-
1/57 cases
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Barp 2020
analysis 57 LGMD2A cases
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.100del
r.(?)
p.(Ala34fs*23)
Parent #2
-
pathogenic
g.42652103del
g.42359905del
100delG
-
CAPN3_000165
-
PubMed: Fanin 2004
,
PubMed: Pizzanelli 2006
-
-
Germline
-
-
-
-
-
DNA
DHPLC
-
-
LGMD
-
PubMed: Fanin 2004
,
PubMed: Pizzanelli 2006
-
F
-
China
-
-
-
-
-
1
Marina Fanin
+/.
1
c.107del
r.(?)
p.(Gly36Valfs*21)
Both (homozygous)
ACMG
pathogenic (recessive)
g.42652110del
g.42359912del
107delG
-
CAPN3_000908
ACMG PVS1, PM2, PM3, PP4_mod
PubMed: Cerino 2022
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
306 NGS Neuromusucular Panel
LGMDR1;LGMD2A
P8/Myo050
PubMed: Cerino 2022
-
M
no
Chile
hispanic
-
-
-
-
1
JA Bevilacqua
+/.
1
c.107del
r.(?)
p.(Gly36Valfs*21)
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.42652110del
g.42359912del
107delG
-
CAPN3_000908
ACMG PVS1, PM2, PM3, PP4_mod
PubMed: Cerino 2022
-
-
Germline
yes
-
-
-
-
DNA
SEQ-NG-I
blood
Myopanel2 306 NM genes panel
LGMDR1;LGMD2A
P14/Myo057
PubMed: Cerino 2022
-
F
no
Chile
Hispanic
-
-
-
-
1
JA Bevilacqua
+/.
-
c.107del
r.(?)
p.(Gly36Valfs*21)
Unknown
-
pathogenic (!)
g.42652110del
g.42359912del
107delG
-
CAPN3_000921
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
SEQ-NG
-
-
LGMDR1;LGMD2A
-
-
-
-
-
-
-
-
-
-
-
1
Gisela Gaina
+/.
-
c.107del
r.(?)
p.(Gly36Valfs*21)
Parent #2
-
pathogenic (recessive)
g.42652110del
g.42359912del
107delG
-
CAPN3_000908
ACMG PVS1, PM2, PM3, PP4_mod
PubMed: Cerino 2022
-
-
Germline
-
-
-
-
-
DNA
SEQ
blood
-
LGMDR1;LGMD2A
P37/Myo100
PubMed: Cerino 2022
-
M
no
Chile
-
-
-
-
-
1
JA Bevilacqua
+/.
1
c.133G>A
r.133g>a
p.Ala45Thr
Parent #1
-
pathogenic
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
PubMed: Chrobakova
,
PubMed: Hermanova 2005
,
PubMed: Stehlikova 2007
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ, DHPLC
-
-
LGMD
Pat1/3
PubMed: Chrobakova
,
PubMed: Hermanova 2005
,
PubMed: Stehlikova 2007
-
M
-
Czech Republic
-
>48y
-
-
-
1
Johan den Dunnen
+/.
1
c.133G>A
r.133g>a
p.Ala45Thr
Parent #2
-
pathogenic
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
PubMed: Chrobakova
,
PubMed: Hermanova 2005
,
PubMed: Stehlikova 2007
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ, DHPLC
-
-
LGMD
Pat1/3
PubMed: Chrobakova
,
PubMed: Hermanova 2005
,
PubMed: Stehlikova 2007
-
M
-
Czech Republic
-
>48y
-
-
-
1
Johan den Dunnen
?/.
1
c.133G>A
r.(?)
p.(Ala45Thr)
Parent #1
-
VUS
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
-
-
-
-
-
-
-
-
-
1
Ieke Ginjaar
+/.
1
c.133G>A
r.(?)
p.(Ala45Thr)
Parent #2
-
pathogenic
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
-
F
-
Germany
-
-
-
-
-
1
Lab Müller-Reible
+/.
1
c.133G>A
r.(?)
p.(Ala45Thr)
Parent #2
-
pathogenic
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
PubMed: Krahn 2006
-
-
Germline
-
-
-
-
-
DNA
DHPLC
-
-
LGMD
Pat63
PubMed: Krahn 2006
,
OMIM:var0006
-
F
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.133G>A
r.(?)
p.(Ala45Thr)
Parent #1
-
pathogenic
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
PubMed: Groen 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Groen 2007
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Ann Curtis
+/.
1
c.133G>A
r.(?)
p.(Ala45Thr)
Parent #2
-
pathogenic
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
PubMed: Groen 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Groen 2007
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Ann Curtis
+/.
1
c.133G>A
r.(?)
p.(Ala45Thr)
Parent #1
-
pathogenic
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
PubMed: Groen 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Groen 2007
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Ann Curtis
+/.
1
c.133G>A
r.(?)
p.(Ala45Thr)
Parent #1
-
pathogenic
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
PubMed: Groen 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Groen 2007
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Ann Curtis
+/.
1
c.133G>A
r.(?)
p.(Ala45Thr)
Parent #1
-
pathogenic
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
PubMed: Groen 2007
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
PubMed: Groen 2007
-
F
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Ann Curtis
+/.
1
c.133G>A
r.(?)
p.(Ala45Thr)
Unknown
-
pathogenic
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
from website {DBsub-Emory}
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
Emory-?
-
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
-
c.133G>A
r.(?)
p.(Ala45Thr)
Both (homozygous)
-
pathogenic (recessive)
g.42652136G>A
g.42359938G>A
-
-
CAPN3_000167
-
PubMed: Stehlikova 2014
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD2
LGMD-Pat42
PubMed: Stehlikova 2014
-
-
-
Czech Republic
-
-
-
-
-
1
Johan den Dunnen
?/.
1
c.139A>T
r.(?)
p.(Ile47Phe)
Unknown
-
VUS
g.42652142A>T
g.42359944A>T
-
-
CAPN3_000531
-
-
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
LGMD
-
-
-
M
-
-
white
-
-
-
-
1
Marina Fanin
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