Global Variome shared LOVD
LAMA2 (laminin, alpha 2)
LOVD v.3.0 Build 30b [
Current LOVD status
]
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Curators:
Johan den Dunnen
and
Jorge Oliveira
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This database is one of the gene variant databases from the
"Leiden Muscular Dystrophy pages" (LMDp)
.
The variants shown are described using the NM_000426.3 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
conflicting
association
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template
: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = single molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-RNA = next-generation sequencing RNA
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
ID_report
: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference
: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks
: remarks about the individual
Gender
: gender individual
All options:
? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male
Consanguinity
: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable
Country
: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)
Population
: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death
: age at which the individual deceased (when applicable):
35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
VIP
: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Data_av
: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment
: treatment of patient
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
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2835 entries on 29 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
+/.
1i_12i
c.(112+1_113-1)_(1782+1_1783-1))del
r.?
p.?
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.(129204503_129371062)_(129513999_129571256)del
-
del ex2-12
-
LAMA2_000766
-
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
Pat72
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
1i_9i
c.(112+1_113-1)__(1306+1_1307-1)del
r.?
p.?
Parent #2
ACMG
pathogenic (recessive)
g.(129204503_129371062)_(129486821_129498850)del
-
del ex2-9
-
LAMA2_000765
-
PubMed: Camelo 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MD
Pat10
PubMed: Camelo 2023
-
F
-
Brazil
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_4i
c.(283+1_284-1)__(639+1_640-1)del
r.?
p.?
Parent #2
ACMG
pathogenic (recessive)
g.(129371234_129380928)_(129419561_129465045)del
g.(129050089_129059783)_(129098416_129143900)del
del ex3-4
-
LAMA2_000478
-
PubMed: Camelo 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MD
Pat49
PubMed: Camelo 2023
-
F
-
Brazil
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-105)_(112+1_113-1)del
r.0?
p.0?
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.(?_129204286)_(129204503_129371062)del
g.(?_128883141)_(128883358_129049917)del
del ex1
-
LAMA2_000763
-
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
Pat1
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
family, 3 affected (F, 2M)
M
-
China
-
3m
-
-
-
3
Johan den Dunnen
+/.
_1_1i
c.(?_-105)_(112+1_113-1)del
r.0?
p.0?
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.(?_129204286)_(129204503_129371062)del
g.(?_128883141)_(128883358_129049917)del
del ex1
-
LAMA2_000763
-
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
Pat32
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
F
-
China
-
3y5m
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-105)_(112+1_113-1)del
r.0?
p.0?
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.(?_129204286)_(129204503_129371062)del
g.(?_128883141)_(128883358_129049917)del
del ex1
-
LAMA2_000763
-
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
Pat2
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
elder sister
F
-
China
-
3m
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-105)_(112+1_113-1)del
r.0?
p.0?
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.(?_129204286)_(129204503_129371062)del
g.(?_128883141)_(128883358_129049917)del
del ex1
-
LAMA2_000763
-
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
Pat3
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
elder brother
M
-
China
-
5m
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-105)_(112+1_113-1)del
r.0?
p.0?
Parent #2
ACMG
pathogenic (recessive)
g.(?_129204286)_(129204503_129371062)del
g.(?_128883141)_(128883358_129049917)del
del ex1
-
LAMA2_000763
-
PubMed: Camelo 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MD
Pat33
PubMed: Camelo 2023
-
M
-
Brazil
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-105)_(112+1_113-1)del
r.0?
p.0?
Parent #2
ACMG
pathogenic (recessive)
g.(?_129204286)_(129204503_129371062)del
g.(?_128883141)_(128883358_129049917)del
del ex1
-
LAMA2_000763
-
PubMed: Camelo 2023
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MD
Pat44
PubMed: Camelo 2023
-
F
-
Brazil
-
-
-
-
-
1
Johan den Dunnen
+?/.
-
с.4056dup
r.(?)
p.(Arg1353GlnfsTer4)
Parent #1
-
likely pathogenic (recessive)
g.129637314dup
g.129316169dup
-
-
LAMA2_000925
-
PubMed: Chausova 2025
,
Journal: Chausova 2025
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
peripheral blood lymphocytes
-
MD
Pat23
PubMed: Chausova 2025
,
Journal: Chausova 2025
patient
F
-
Russia
-
-
-
-
-
1
Johan den Dunnen
+/.
-
с.79C>T
r.(?)
p.(Gln27Ter)
Parent #2
-
likely pathogenic (recessive)
g.129204469C>T
g.128883324C>T
-
-
LAMA2_000912
ACMG PM2, PVS1, PP4
PubMed: Chausova 2025
,
Journal: Chausova 2025
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
peripheral blood lymphocytes
-
MD
Pat21
PubMed: Chausova 2025
,
Journal: Chausova 2025
patient
M
-
Russia
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_1i
c.(?_-105)_(112+1_113-1)del
r.0?
p.0?
Parent #2
-
likely pathogenic (recessive)
g.(?_129204286)_(129204503_129371062)del
g.(?_128883141)_(128883358_129049917)del
del ex1
-
LAMA2_000763
-
PubMed: Chausova 2025
,
Journal: Chausova 2025
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
peripheral blood lymphocytes
-
MD
Pat49
PubMed: Chausova 2025
,
Journal: Chausova 2025
patient
F
-
Russia
-
-
-
-
-
1
Johan den Dunnen
?/.
1
c.-17del
r.(?)
p.(=)
Unknown
-
VUS
g.129204374del
g.128883229del
-
-
LAMA2_000314
-
from website {DBsub-Emory}
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Emory-?
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/?
1
c.-17del
r.(?)
p.(=)
Unknown
ACMG
VUS
g.129204374del
g.128883229del
-
-
LAMA2_000314
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
35i_65_
c.(5072-2432_5072-1409)_*219{0}
r.?
p.?
Paternal (confirmed)
ACMG
pathogenic (recessive)
g.(129710204_129711227)_(132942814_133179434)del
-
del ex36-65
-
LAMA2_000437
-
PubMed: Ding 2016
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
proband;Pat125
PubMed: Ding 2016
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
family affected sister/brother
F
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
35i_65_
c.(5072-2432_5072-1409)_*219{0}
r.?
p.?
Paternal (confirmed)
ACMG
pathogenic (recessive)
g.(129710204_129711227)_(132942814_133179434)del
-
del ex36-65
-
LAMA2_000437
-
PubMed: Ding 2016
,
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
?;Pat127
PubMed: Ding 2016
,
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
elder brother
M
-
China
-
14y01m
-
-
-
1
Johan den Dunnen
+/.
58
c.?
r.8076_8244del
p.Pro2693_His2748delfs*12
Parent #1
-
pathogenic (recessive)
g.?
-
8124-8293del
-
LAMA2_000000
unknown variant 2nd chromosome
PubMed: Pegoraro 1998
-
-
Germline
-
-
-
-
-
DNA, RNA
PTT, SSCA, SEQ
-
-
MDC
09674786-Pat12
PubMed: Pegoraro 1998
contractures ankles, abnormal white matter, no seizures
M
-
(United States)
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.?
r.0
p.0
Parent #1
-
pathogenic (recessive)
g.?
-
-
-
LAMA2_000000
-
PubMed: Hayashi 1995
-
-
Germline
-
1/40 patients
-
-
-
DNA, RNA
RT-PCR
-
-
MDC
07643867-Pat
PubMed: Hayashi 1995
-
F
no
Japan
-
1y11m
-
-
-
1
Johan den Dunnen
+/.
1
c.?
r.0
p.0
Parent #2
-
pathogenic (recessive)
g.?
-
-
-
LAMA2_000000
-
PubMed: Hayashi 1995
-
-
Germline
-
1/40 patients
-
-
-
DNA, RNA
RT-PCR
-
-
MDC
07643867-Pat
PubMed: Hayashi 1995
-
F
no
Japan
-
1y11m
-
-
-
1
Johan den Dunnen
?/.
_1_65_
c.?
r.0
p.0
Parent #2
-
VUS
g.?
-
-
-
LAMA2_000000
allele not expressed
PubMed: Tezak 2003
,
OMIM:var0010
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, DHPLC
-
-
MDC
12552556-Pat2
PubMed: Tezak 2003
,
OMIM:var0010
-
F
-
United States
-
>4y
-
-
-
1
Johan den Dunnen
+/.
55i
c.?
r.7750_7898del
p.Ala2584Hisfs*8
Parent #1
-
pathogenic (recessive)
g.?
-
r.7798-7947del
-
LAMA2_000000
-
PubMed: Hayashi 2001
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MDC
11369186-Pat5
PubMed: Hayashi 2001
-
F
-
Japan
-
>7m
-
-
-
1
Johan den Dunnen
+/.
55i
c.?
r.7750_7898del
p.Ala2584Hisfs*8
Parent #2
-
pathogenic (recessive)
g.?
-
r.7798-7947del
-
LAMA2_000000
-
PubMed: Hayashi 2001
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MDC
11369186-Pat5
PubMed: Hayashi 2001
-
F
-
Japan
-
>7m
-
-
-
1
Johan den Dunnen
+/.
1
c.?
r.0
p.0
Parent #2
-
pathogenic (recessive)
g.?
-
-
-
LAMA2_000000
variant in promoter?
PubMed: Pegoraro 1998
,
PubMed: Hayashi 2001
-
-
Germline
-
-
-
-
-
DNA, RNA
PTT, SSCA, SEQ
-
-
MDC
09674786-Pat5/Pat2
PubMed: Pegoraro 1998
,
PubMed: Hayashi 2001
contractures wrists/ankles, abnormal white matter, no seizures
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
?/.
_1_65_
c.?
r.0
p.0
Parent #2
-
VUS
g.?
-
-
-
LAMA2_000000
allele not expressed
PubMed: Tezak 2003
,
OMIM:var0009
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MDC
12552556-Pat1
PubMed: Tezak 2003
,
OMIM:var0009
-
F
-
United States
-
>24y
-
-
-
1
Johan den Dunnen
+/.
_1_65_
c.?
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.?
-
-
-
LAMA2_000000
unknown variant, founder haplotype (Ireland)
PubMed: Geranmayeh 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
20207543-Pat09
PubMed: Geranmayeh 2010
-
F
-
United Kingdom (Great Britain)
Ireland
>2y
-
-
-
1
Johan den Dunnen
?/.
_1_65_
c.?
r.?
p.?
Both (homozygous)
-
VUS
g.?
-
-
-
LAMA2_000000
unknown chromosome
PubMed: Geranmayeh 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
20207543-Pat11
PubMed: Geranmayeh 2010
-
F
-
-
-
>2y1m
-
-
-
1
Johan den Dunnen
+/.
_1_65_
c.?
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.?
-
-
-
LAMA2_000000
unknown variant, founder haplotype (Ireland)
PubMed: Geranmayeh 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
20207543-Pat29
PubMed: Geranmayeh 2010
-
F
-
United Kingdom (Great Britain)
Ireland
>6y6m
-
-
-
1
Johan den Dunnen
+/.
_1_65_
c.?
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.?
-
-
-
LAMA2_000000
unknown variant, founder haplotype (Ireland)
PubMed: Geranmayeh 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
20207543-Pat36
PubMed: Geranmayeh 2010
-
F
-
United Kingdom (Great Britain)
Ireland
>12y
-
-
-
1
Johan den Dunnen
+/.
_1_65_
c.?
r.?
p.?
Both (homozygous)
-
pathogenic (recessive)
g.?
-
-
-
LAMA2_000000
unknown variant, founder haplotype (Ireland)
PubMed: Geranmayeh 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
20207543-Pat50
PubMed: Geranmayeh 2010
-
M
-
United Kingdom (Great Britain)
Ireland
>7y7m
-
-
-
1
Johan den Dunnen
+/.
1
c.2T>C
r.2u>c
p.0?
Parent #1
-
pathogenic (recessive)
g.129204392T>C
g.128883247T>C
T51C
-
LAMA2_000003
unknown variant 2nd chromosome
PubMed: Pegoraro 1998
,
PubMed: Hayashi 2001
-
-
Germline
-
-
-
-
-
DNA, RNA
PTT, SSCA, SEQ
-
-
MDC
09674786-Pat20/Pat9
PubMed: Pegoraro 1998
,
PubMed: Hayashi 2001
contractures elbows/wrists/hips/knees/ankles, abnormal white matter (hypoplastics pons.), no seizures
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.2T>C
r.(?)
p.0?
Unknown
-
pathogenic (recessive)
g.129204392T>C
g.128883247T>C
-
-
LAMA2_000003
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
?
-
-
M
-
United States
-
-
-
-
-
1
Tom Winder
+?/.
1
c.2T>C
r.(?)
p.0?
Unknown
-
likely pathogenic (recessive)
g.129204392T>C
g.128883247T>C
-
-
LAMA2_000003
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
?
-
-
M
-
United States
-
-
-
-
-
1
Tom Winder
+?/.
1
c.2T>C
r.(?)
p.0?
Maternal (confirmed)
-
likely pathogenic (recessive)
g.129204392T>C
g.128883247T>C
(Met1Thr)
-
LAMA2_000003
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
?
-
-
M
-
(United States)
-
-
-
-
-
1
Tom Winder
+/.
1
c.2T>C
r.(?)
p.0?
Parent #1
-
pathogenic (recessive)
g.129204392T>C
g.128883247T>C
Met1Thr
-
LAMA2_000003
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
MDC
?
-
-
-
-
United States
-
-
-
-
-
1
Tom Winder
+/+
1
c.2T>C
r.(?)
p.0?
Unknown
ACMG
pathogenic (recessive)
g.129204392T>C
g.128883247T>C
-
-
LAMA2_000003
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.3dup
r.(?)
p.(Pro2AlafsTer48)
Parent #1
-
likely pathogenic (recessive)
g.129204393dup
g.128883248dup
-
-
LAMA2_000911
ACMG PM2, PVS1
PubMed: Chausova 2025
,
Journal: Chausova 2025
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
peripheral blood lymphocytes
-
MD
Pat10
PubMed: Chausova 2025
,
Journal: Chausova 2025
patient
F
-
Russia
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.13G>A
r.(?)
p.(Ala5Thr)
Unknown
-
likely benign
g.129204403G>A
g.128883258G>A
LAMA2(NM_000426.3):c.13G>A (p.(Ala5Thr))
-
LAMA2_000576
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.32T>C
r.(?)
p.(Leu11Pro)
Unknown
-
VUS
g.129204422T>C
g.128883277T>C
-
-
LAMA2_000482
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MD
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
-
Portugal
-
-
-
-
-
1
Jorge Oliveira
?/?
1
c.32T>C
r.(?)
p.(Leu11Pro)
Unknown
ACMG
VUS
g.129204422T>C
g.128883277T>C
-
-
LAMA2_000482
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
1
c.35T>G
r.(?)
p.(Leu12Arg)
Unknown
-
VUS
g.129204425T>G
g.128883280T>G
-
-
LAMA2_000190
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
?
-
-
F
-
United States
-
-
-
-
-
1
Tom Winder
+/.
1
c.35T>G
r.(?)
p.(Leu12Arg)
Unknown
-
pathogenic (recessive)
g.129204425T>G
g.128883280T>G
-
-
LAMA2_000190
-
PubMed: Løkken 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
LGMD
25663498-Pat7
PubMed: Løkken 2015
-
F
-
Denmark
-
>32y
-
-
-
1
Jorge Oliveira
+/+
1
c.35T>G
r.(?)
p.(Leu12Arg)
Unknown
ACMG
pathogenic (recessive)
g.129204425T>G
g.128883280T>G
-
-
LAMA2_000190
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.47del
r.(?)
p.(Gly16Alafs*29)
Paternal (confirmed)
-
likely pathogenic (recessive)
g.129204437del
g.128883292del
-
-
LAMA2_000230
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
?
-
-
M
-
(United States)
-
-
-
-
-
1
Tom Winder
+/+
1
c.47del
r.(?)
p.(Gly16Alafs*29)
Unknown
ACMG
pathogenic (recessive)
g.129204437del
g.128883292del
-
-
LAMA2_000230
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.54_64del
r.(?)
p.(Gly19AlafsTer27)
Unknown
-
pathogenic
g.129204444_129204454del
g.128883299_128883309del
LAMA2(NM_000426.4):c.54_64delGGGCGTACAGG (p.G19Afs*27)
-
LAMA2_000577
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.56dup
r.(?)
p.(Val20ArgfsTer30)
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.129204446dup
g.128883301dup
c.56dupG
-
LAMA2_000764
-
PubMed: Ge 2019
,
PubMed: Tan 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
Pat51
PubMed: Ge 2019
,
PubMed: Tan 2021
family affected brother/sister
F
-
China
-
-
-
-
-
2
Johan den Dunnen
+/.
1
c.56dup
r.(?)
p.(Val20ArgfsTer30)
Maternal (confirmed)
ACMG
pathogenic (recessive)
g.129204446dup
g.128883301dup
c.56dupG
-
LAMA2_000764
-
PubMed: Ge 2019
,
PubMed: Tan 2021
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
Pat81
PubMed: Ge 2019
,
PubMed: Tan 2021
brother
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/+
1
c.67_71del
r.(?)
p.(Gln23Alafs*25)
Unknown
ACMG
pathogenic (recessive)
g.129204457_129204461del
g.128883312_128883316del
-
-
LAMA2_000539
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.74C>T
r.(?)
p.(Pro25Leu)
Unknown
-
likely benign
g.129204464C>T
g.128883319C>T
LAMA2(NM_000426.3):c.74C>T (p.(Pro25Leu))
-
LAMA2_000578
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.82C>T
r.82c>u
p.Gln28*
Parent #1
-
pathogenic (recessive)
g.129204472C>T
g.128883327C>T
C131T
-
LAMA2_000004
unknown variant 2nd chromosome
PubMed: Pegoraro 1998
-
-
Germline
-
-
-
-
-
DNA, RNA
PTT, SEQ, SSCA
-
-
MDC
09674786-Pat18
PubMed: Pegoraro 1998
-
M
-
(United States)
-
9y
-
-
-
1
Johan den Dunnen
+/+
1
c.82C>T
r.(?)
p.(Gln28*)
Unknown
ACMG
pathogenic (recessive)
g.129204472C>T
g.128883327C>T
-
-
LAMA2_000004
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
1
c.94C>T
r.(?)
p.(Gln32*)
Unknown
-
likely pathogenic (recessive)
g.129204484C>T
g.128883339C>T
-
-
LAMA2_000205
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
?
-
-
F
-
Canada
-
-
-
-
-
1
Tom Winder
+/.
1
c.94C>T
r.(?)
p.(Gln32Ter)
Unknown
-
pathogenic
g.129204484C>T
g.128883339C>T
-
-
LAMA2_000205
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/+?
1
c.94C>T
r.(?)
p.(Gln32*)
Unknown
ACMG
likely pathogenic (recessive)
g.129204484C>T
g.128883339C>T
-
-
LAMA2_000205
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.106C>T
r.(?)
p.(Gln36Ter)
Parent #1
-
likely pathogenic (recessive)
g.129204496C>T
g.128883351C>T
-
-
LAMA2_000913
ACMG PM2, PVS1
PubMed: Chausova 2025
,
Journal: Chausova 2025
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
peripheral blood lymphocytes
-
MD
Pat72
PubMed: Chausova 2025
,
Journal: Chausova 2025
patient
M
-
Russia
-
-
-
-
-
1
Johan den Dunnen
?/.
1
c.112G>A
r.(?)^r.(spl?)
p.(Gly38Ser)^p.?
Both (homozygous)
-
VUS
g.129204502G>A
g.128883357G>A
-
-
LAMA2_000309
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
MDC
?
-
-
M
-
Saudi Arabia
Arab
-
-
-
-
1
Tom Winder
?/?
1
c.112G>A
r.spl?
p.(Gly38Ser)
Unknown
ACMG
VUS
g.129204502G>A
g.128883357G>A
-
-
LAMA2_000309
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
1
c.112G>T
r.spl?
p.(Gly38Cys)
Unknown
ACMG
VUS
g.129204502G>T
g.128883357G>T
-
-
LAMA2_000540
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1i
c.112+1G>A
r.spl?
p.?
Parent #1
-
pathogenic (recessive)
g.129204503G>A
g.128883358G>A
-
-
LAMA2_000260
-
PubMed: Geranmayeh 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
20207543-Pat24
PubMed: Geranmayeh 2010
-
F
-
-
-
>5y6m
-
-
-
1
Johan den Dunnen
?/.
1i
c.112+1G>A
r.spl?
p.?
Unknown
-
VUS
g.129204503G>A
g.128883358G>A
-
-
LAMA2_000260
-
from website {DBsub-Emory}
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Emory-?
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
1i
c.112+1G>A
r.spl?
p.?
Unknown
-
pathogenic (recessive)
g.129204503G>A
g.128883358G>A
-
-
LAMA2_000260
-
-
-
-
Germline
-
-
-
-
-
DNA
arrayCGH, SEQ, SEQ-NG
-
-
MDC
?
-
2-generation family, 1 affected
F
no
(United States)
white
-
-
-
-
1
Vikki Stefans
+/+
1i
c.112+1G>A
r.spl
p.?
Unknown
ACMG
pathogenic (recessive)
g.129204503G>A
g.128883358G>A
-
-
LAMA2_000260
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1i
c.(112+1_113-1)?
r.[112_113ins112+1_112+75{?}]
p.(fs*)
Paternal (inferred)
-
pathogenic (recessive)
g.(129204503_129371062)?
-
162ins75
-
LAMA2_000006
-
PubMed: Hayashi 1997
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MDC
09113020_Pat
PubMed: Hayashi 1997
-
M
-
Japan
-
>41y
-
-
-
1
Johan den Dunnen
+/.
1i
c.112+3A>G
r.(spl?)
p.?
Parent #1
-
pathogenic (recessive)
g.129204505A>G
g.128883360A>G
161+3A>G
-
LAMA2_000084
unknown variant 2nd chromosome
PubMed: Allamand 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
11938437-pat?
PubMed: Allamand 2002
-
-
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/+
1i
c.112+3A>G
r.spl?
p.?
Unknown
ACMG
pathogenic (recessive)
g.129204505A>G
g.128883360A>G
-
-
LAMA2_000084
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.112+43141C>G
-
-
Paternal (confirmed)
-
likely pathogenic (dominant)
g.129247643C>G
g.129528800C>G
RHO CCC to GCC, Pro23Ala
-
RHO_000274
heterozygous; no nucleotide annotation, extrapolated from protein and databases
PubMed: Oh 2000
-
-
Germline
yes
-
-
-
-
DNA
SSCA, SEQ
blood
-
retinal disease
III:3
PubMed: Oh 2000
no individual ID, only number of individuals with the mutation; mutation report
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.112+43247C>G
-
-
Unknown
-
likely pathogenic (dominant)
g.129247749C>G
g.129528906C>G
RHO T58R
-
RHO_000130
heterozygous
PubMed: Aleman 2008
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
9_P3
PubMed: Aleman 2008
-
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.112+45258C>T
-
-
Unknown
-
likely pathogenic (dominant)
g.129249760C>T
g.129530917C>T
RHO R135W
-
RHO_000001
heterozygous
PubMed: Aleman 2008
-
-
Germline
yes
-
-
-
-
DNA
SEQ
blood
-
retinal disease
2_P1
PubMed: Aleman 2008
-
M
-
United States
-
-
-
-
-
1
LOVD
+?/.
-
c.112+47114G>T
r.(=)
p.(=)
Paternal (confirmed)
-
likely pathogenic (dominant)
g.129251616G>T
g.129532773G>T
guanosine 4335-to thymidine, GT to TT at the donor splice junction of intron 7
-
RHO_000144
heterozygous
PubMed: Macke_1993
-
-
Germline
yes
-
-
-
-
DNA
DGGE
blood
-
retinal disease
HS461-4
PubMed: Macke_1993
-
F
-
United States
-
-
-
-
-
1
LOVD
+?/.
1i_12i
c.(112+1_113-50)_(1782+50_1783-1)dup
r.?
p.?
Unknown
ACMG
likely pathogenic (recessive)
g.(129204503_129371013)_(129514048_129571256)dup
g.(128883358_129049868)_(129192903_129250111)dup
NGS del ex2-12
-
LAMA2_000850
ACMG: PVS1_STR, PM3, PM2_SUP
PubMed: Ge 2019, Tan 2021
-
-
Germline
?
-
-
-
-
DNA
SEQ-NG-I
-
-
MDC1A
212733
-
-
M
no
Germany
-
-
-
-
-
1
Andreas Laner
+/.
1i_3i
c.(112+1_113-1)_(396+1_397-1)del
r.(del?)
p.(fs*?)
Paternal (confirmed)
-
pathogenic (recessive)
g.(129204503_129371062)_(129381042_129419317)del
-
-
-
LAMA2_000460
probable duplicate in Tan 2021
PubMed: Xiong 2014
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
MDC
Pat15
PubMed: Xiong 2014
Sister of patient 24611677-Pat15 (00103669); probable duplicate in Tan 2021
F
-
China
Uyghur
>05y
-
-
-
1
Jorge Oliveira
+/.
1i_3i
c.(112+1_113-1)_(396+1_397-1)del
r.(del?)
p.(fs*?)
Paternal (confirmed)
-
pathogenic (recessive)
g.(129204503_129371062)_(129381042_129419317)del
-
-
-
LAMA2_000460
probable duplicate in Tan 2021
PubMed: Xiong 2014
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
MDC
Pat16
PubMed: Xiong 2014
Sister of patient 24611677-Pat15 (00103668); probable duplicate in Tan 2021
F
-
China
-
13y
-
-
-
1
Jorge Oliveira
+/+
1i_3i
c.(112+1_113-1)_(396+1_397-1)del
r.spl
p.?
Unknown
ACMG
pathogenic (recessive)
g.(129204503_129371062)_(129381042_129419317)del
-
-
-
LAMA2_000460
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1i_3i
c.(112+1_113-1)_(396+1_397-1)del
r.?
p.?
Paternal (confirmed)
ACMG
pathogenic (recessive)
g.(129204503_129371062)_(129381042_129419317)del
-
del ex2-3
-
LAMA2_000460
-
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
Pat95
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
family, 2 affected sisters
F
-
China
Uighur
-
-
-
-
2
Johan den Dunnen
+/.
1i_3i
c.(112+1_113-1)_(396+1_397-1)del
r.?
p.?
Paternal (confirmed)
ACMG
pathogenic (recessive)
g.(129204503_129371062)_(129381042_129419317)del
-
del ex2-3
-
LAMA2_000460
-
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
Pat97
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
sister
F
-
China
Uighur
13y
-
-
-
1
Johan den Dunnen
+/.
1i_9i
c.(112+1_113-1)_(1306+1_1307-1)del
r.?
p.?
Paternal (confirmed)
ACMG
pathogenic (recessive)
g.(129204503_129371062)_(129486821_129498850)del
-
del ex2-9
-
LAMA2_000765
-
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
MDC
Pat78
PubMed: Ge 2019
,
PubMed: Tan 2021
, possibly
PubMed: Ge 2018
cousin
M
-
China
-
-
-
-
-
1
Johan den Dunnen
?/.
2
c.149C>T
r.(?)
p.(Ala50Val)
Unknown
-
VUS
g.129371099C>T
g.129049954C>T
-
-
LAMA2_000541
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/?
2
c.149C>T
r.(?)
p.(Ala50Val)
Unknown
ACMG
VUS
g.129371099C>T
g.129049954C>T
-
-
LAMA2_000541
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
2
c.156C>T
r.(?)
p.(=)
Unknown
-
benign
g.129371106C>T
g.129049961C>T
-
-
LAMA2_000153
-
-
-
rs1140366
Germline
-
-
-
-
-
DNA
SEQ
-
-
Healthy/Control
?
-
-
-
-
Portugal
-
-
-
-
-
1
Rosário dos Santos
-/.
2
c.156C>T
r.(?)
p.(=)
Unknown
-
benign
g.129371106C>T
g.129049961C>T
I521I
-
LAMA2_000153
-
PubMed: Di Blasi 2005
-
rs1140366
Germline
-
0.19
-
-
-
DNA
SEQ
-
-
MDC
16216942-con
PubMed: Di Blasi 2005
-
-
no
Italy
-
-
-
-
-
1
Johan den Dunnen
-/.
2
c.156C>T
r.(?)
p.(=)
Unknown
-
benign
g.129371106C>T
g.129049961C>T
-
-
LAMA2_000153
-
from website {DBsub-Emory}
-
rs1140366
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Emory-?
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
-/.
2
c.156C>T
r.(?)
p.(Ile52=)
Unknown
-
benign
g.129371106C>T
g.129049961C>T
LAMA2(NM_000426.4):c.156C>T (p.I52=)
-
LAMA2_000153
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
2
c.156C>T
r.(?)
p.(Ile52=)
Unknown
-
benign
g.129371106C>T
g.129049961C>T
LAMA2(NM_000426.4):c.156C>T (p.I52=)
-
LAMA2_000153
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/-
2
c.156C>T
r.(?)
p.(=)
Unknown
ACMG
benign
g.129371106C>T
g.129049961C>T
-
-
LAMA2_000153
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.163A>C
r.(?)
p.(Asn55His)
Parent #1
-
likely pathogenic (recessive)
g.129371113A>C
g.129049968A>C
-
-
LAMA2_000914
ACMG PM2, PP3, PM3, PP4
PubMed: Chausova 2025
,
Journal: Chausova 2025
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
peripheral blood lymphocytes
-
MD
Pat88
PubMed: Chausova 2025
,
Journal: Chausova 2025
patient
M
-
Russia
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.163A>C
r.(?)
p.(Asn55His)
Parent #2
-
likely pathogenic (recessive)
g.129371113A>C
g.129049968A>C
-
-
LAMA2_000914
ACMG PM2, PP3, PM3, PP4
PubMed: Chausova 2025
,
Journal: Chausova 2025
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
peripheral blood lymphocytes
-
MD
Pat86
PubMed: Chausova 2025
,
Journal: Chausova 2025
patient
M
-
Russia
-
-
-
-
-
1
Johan den Dunnen
+?/.
2
c.164del
r.(?)
p.(Asn55Metfs*16)
Parent #1
-
likely pathogenic (recessive)
g.129371114del
g.129049969del
-
-
LAMA2_000232
unknown variant 2nd chromosome
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
MDC
?
-
-
M
-
Canada
French Canadian
-
-
-
-
1
Tom Winder
+?/+?
2
c.164del
r.(?)
p.(Asn55Metfs*16)
Unknown
ACMG
likely pathogenic (recessive)
g.129371114del
g.129049969del
-
-
LAMA2_000232
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.164del
r.(?)
p.(Asn55Metfs*16)
Both (homozygous)
ACMG
pathogenic
g.129371114del
g.129049969del
c.164delA
-
LAMA2_000232
ACMG PVS1, PM2, PP3
PubMed: Özyilmaz 2019
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
CMD gene panel
MDC
Pat34
PubMed: Özyilmaz 2019
-
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.172T>C
r.(?)
p.(Cys58Arg)
Parent #1
-
likely pathogenic (recessive)
g.129371122T>C
g.129049977T>C
-
-
LAMA2_000915
ACMG PM2, PP3, PM3, PP4
PubMed: Chausova 2025
,
Journal: Chausova 2025
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
peripheral blood lymphocytes
-
MD
Pat85
PubMed: Chausova 2025
,
Journal: Chausova 2025
patient
F
-
Russia
-
-
-
-
-
1
Johan den Dunnen
?/.
2
c.176G>A
r.(?)
p.(Gly59Glu)
Parent #1
-
VUS
g.129371126G>A
g.129049981G>A
-
-
LAMA2_000709
-
PubMed: Ganapathy 2019
-
rs748303070
Germline
-
-
-
-
-
DNA
SEQ-NG
-
TruSight One panel
?
S-4928
PubMed: Ganapathy 2019
-
-
-
India
-
-
-
-
-
1
Johan den Dunnen
?/.
2
c.184G>T
r.(?)
p.(Gly62*)
Unknown
-
VUS
g.129371134G>T
g.129049989G>T
-
-
LAMA2_000315
-
from website {DBsub-Emory}
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
Emory-?
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+?/+?
2
c.184G>T
r.(?)
p.(Gly62*)
Unknown
ACMG
likely pathogenic (recessive)
g.129371134G>T
g.129049989G>T
-
-
LAMA2_000315
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.184G>T
r.(?)
p.(Gly62*)
Parent #1
-
pathogenic (recessive)
g.129371134G>T
g.129049989G>T
-
-
LAMA2_000315
1 heterozygous, no homozygous;
Clinindb (India)
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs398123368
Germline
-
1/2795 individuals
-
-
-
DNA
arraySNP
-
Infinium Global Screening Array v1.0
?
-
PubMed: Narang 2020
,
Journal: Narang 2020
analysis 2794 individuals (India)
-
-
India
-
-
-
-
-
1
Mohammed Faruq
?/.
-
c.236G>A
r.(?)
p.(Arg79Lys)
Unknown
-
VUS
g.129371186G>A
-
LAMA2(NM_000426.4):c.236G>A (p.R79K)
-
LAMA2_000726
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.236G>A
r.(?)
p.(Arg79Lys)
Unknown
-
VUS
g.129371186G>A
-
LAMA2(NM_000426.4):c.236G>A (p.R79K)
-
LAMA2_000726
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.245A>T
r.(?)
p.(Gln82Leu)
Unknown
ACMG
VUS
g.129371195A>T
g.129050050A>T
-
-
LAMA2_000491
PolyPhen-2 score 0.99 (probably pathogenic)
-
-
-
Germline
?
-
-
-
-
DNA
SEQ
-
-
MDC
84038
-
-
F
?
Germany
-
-
-
-
-
1
Andreas Laner
?/?
2
c.245A>T
r.(?)
p.(Gln82Leu)
Unknown
ACMG
VUS
g.129371195A>T
g.129050050A>T
-
-
LAMA2_000491
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.(247T>C)
r.(247u>c)
p.Cys83Arg
Both (homozygous)
-
pathogenic (recessive)
g.129371197T>C
g.129050052T>C
-
-
LAMA2_000413
animal model
PubMed: Patton 2008
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
MDC
?
PubMed: Patton 2008
nmf417 mouse model
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/+
2
c.(247T>C)
r.(?)
p.(Cys83Arg)
Unknown
ACMG
pathogenic (recessive)
g.129371197T>C
g.129050052T>C
-
-
LAMA2_000413
-
PubMed: Oliveira 2018
,
Journal: Oliveira 2018
-
-
SUMMARY record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
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