Global Variome shared LOVD
EMD (emerin)
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Curator:
Johan den Dunnen
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This database is one of the gene variant databases from the
Leiden Muscular Dystrophy pages
The variants shown are described using the NM_000117.2 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
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space
Text
Arg Ser
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|
Text
Arg|Ser
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!
Text
!fs
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^
Text
^p.(Arg
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$
Text
Ser)$
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=""
Text
=""
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=""
Text
="p.0"
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!=""
Text
!=""
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!=""
Text
!="p.0"
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combination
Text
*|Ter !fs
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Date
2020
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|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
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<
Date
<2020
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<=
Date
<=2020-06
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>
Date
>2020-06
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>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
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|
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
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>
Numeric
>23
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>=
Numeric
>=23
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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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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Allele
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Template
Technique
Tissue
Remarks
Disease
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Panel size
Owner
./.
-
c.-897039_*349dup
r.0?
p.0?
Maternal (confirmed)
-
pathogenic
g.152710806_153609906dup
-
MECP2
-
MECP2_002820
-
PubMed: Hu 2016
-
-
Germline
yes
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamAU29
PubMed: Hu 2016
family, 2 affected, 1 unaffected heterozygous carrier female
M
-
-
-
-
-
-
-
2
Johan den Dunnen
./.
-
c.-42004_*1112872dup
-
-
Maternal (confirmed)
-
pathogenic
g.153565841_154722429dup
g.154337626_155494214dup
-
-
DKC1_000000
increased gene dosage
PubMed: DDDS 2015
,
Journal: DDDS 2015
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG-I
-
-
?
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, 1 affected
M
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
1
Johan den Dunnen
./.
-
c.-37437_*251551dup
r.0?
p.0?
Maternal (inferred)
-
pathogenic
g.153570408_153861108dup
g.154342193_154632893dup
GDI1
-
FLNA_000307
-
PubMed: Hu 2016
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
WES-X chromosome
MRX;IDX
25644381-FamMRX75/D13
PubMed: Hu 2016
family, 1 affected, 4 unaffected heterozygous carrier females
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.-4721_*13846del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.153603124_153623403del
g.154374755_154395034del
-
-
EMD_000008
21kb deletion
PubMed: Small
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
09384614-PatBS
PubMed: Small 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.-2784A>G
r.(?)
p.(=)
Unknown
-
benign
g.153605061A>G
-
FLNA(NM_001110556.2):c.-2304T>C
-
FLNA_000573
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
-
c.(?_-252)_(*252_?)del
r.?
p.?
Parent #1
-
pathogenic (recessive)
g.(?_153607593)_(153609809_?)del
-
chrX:153607593-153609809
-
EMD_000187
2.2 kb deletion
PubMed: Topf 2020
-
-
Germline
-
1/1001 cases
-
-
-
DNA
SEQ, SEQ-NG
-
WES
LGMD
patient
PubMed: Topf 2020
analysis 1001 patients with unexplained limb-girdle weakness
-
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
_1_6_
c.(?_-248)_(*326_?)del
r.0
p.0
Maternal (confirmed)
-
pathogenic
g.[153551430_(1535714)del;153603341_(153613227)del]
-
-
-
EMD_000007
34kb deletion in inverted FLNA/EMD allele, breakpoints repeat unit estimated
PubMed: Small 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
09384614-PatAB
PubMed: Small 1998
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.(?_-248)_(*326_?)del
r.0
p.0?
Maternal (confirmed)
-
pathogenic
g.(?_153607597del)_(153609883_?)del
-
-
-
EMD_000059
-
PubMed: Fujimoto
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, PCR, SEQ
-
-
EDMD
-
PubMed: Fujimoto
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.(?_-248)_(*326_?)del
r.0
p.0?
Maternal (confirmed)
-
pathogenic
g.(?_153607597del)_(153609883_?)del
-
-
-
EMD_000059
7011 bp EMD-del, partial 10884 bp FLNA dup
PubMed: Small
-
-
Germline
-
-
-
-
-
DNA
Southern, SEQ
-
-
EDMD
-
PubMed: Small
-
-
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.(?_-248)_(*326_?)del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic
g.(?_153607597del)_(153609883_?)del
-
-
-
EMD_000059
-
EMD-Wehnert, 1998
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
EDMD
-
EMD-Wehnert, 1998
3 brothers, full gene deletion
-
-
Germany
-
-
-
-
-
3
Johan den Dunnen
+/.
1
c.(?_-248)_(*326_?)del
r.0?
p.0?
Maternal (confirmed)
-
pathogenic
g.(?_153607597del)_(153609883_?)del
-
-
-
EMD_000059
-
EMD-Muller, 1996
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
EDMD
-
EMD-Muller, 1996
gene deletion
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.(?_-248)_(*326_?)del
r.0
p.0?
Maternal (confirmed)
-
pathogenic
g.(?_153607597del)_(153609883_?)del
-
-
-
EMD_000059
-
PubMed: Funakoshi 1999
-
-
Germline
-
-
-
-
-
DNA
PCR
-
-
EDMD
Pat6
PubMed: Funakoshi 1999
-
M
-
Japan
-
>8y
-
-
-
1
Johan den Dunnen
-/.
1
c.(?_-248)_(*326_?)inv
r.(=)
p.(=)
Maternal (confirmed)
-
benign
g.(153564000_153607597)_(153609883_153624000)inv
-
-
-
EMD_000089
48kb inversion FLNA/EMD
PubMed: Small 1997
-
-
Germline
-
19/106 controls
-
-
-
DNA
Southern
-
-
?
-
PubMed: Small
large inversion incl. FLNA + EMD between two 11.3Kb inverted repeats (99% sequence identity)
-
-
-
-
-
-
-
-
1
Johan den Dunnen
?/.
1
c.-139_-118del
r.(?)
p.(=)
Maternal (confirmed)
-
VUS
g.153607706_153607727del
g.154379346_154379367del
-150_-129del
-
EMD_000001
-
PubMed: Manilal
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
?
-
PubMed: Manilal
maternal carrier grandmother
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
?/.
1
c.-139_-118del
r.(?)
p.(=)
Maternal (confirmed)
-
VUS
g.153607706_153607727del
g.154379346_154379367del
-150_-129del
-
EMD_000001
-
PubMed: Wulff
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
?
-
PubMed: Wulff
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.?
r.55_83del
p.Tyr19Ilefs*4
Maternal (confirmed)
-
pathogenic
g.?
-
-
-
EMD_000012
-
PubMed: Bione
,
PubMed: Romeo
,
PubMed: Sabatelli 1998
,
OMIM:var0003
-
-
Germline
-
-
-
-
-
RNA
RT-PCR, SEQ
-
-
EDMD
-
PubMed: Bione
,
PubMed: Romeo
,
PubMed: Sabatelli 1998
,
OMIM:var0003
-
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>G
r.(?)
p.0?
Maternal (confirmed)
-
pathogenic
g.153607845A>G
g.154379485A>G
-
-
EMD_000058
-
EMD-Toniolo, 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat19a
EMD-Toniolo, 1996
-
-
-
Poland
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>G
r.(?)
p.0?
Maternal (confirmed)
-
pathogenic
g.153607845A>G
g.154379485A>G
-
-
EMD_000058
-
EMD-Toniolo, 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
EMD-Toniolo, 1998
-
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>G
r.1a>g
p.0?
Maternal (confirmed)
-
pathogenic
g.153607845A>G
g.154379485A>G
-
-
EMD_000058
-
PubMed: Bione
,
OMIM:var0002
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
EDMD
-
PubMed: Bione
,
OMIM:var0002
-
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.1A>G
r.(?)
p.0?
Maternal (confirmed)
-
pathogenic
g.153607845A>G
g.154379485A>G
-
-
EMD_000058
-
PubMed: Markiewicz 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat3
PubMed: Markiewicz 2002
-
M
-
Poland
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.2T>C
r.(?)
p.0?
Maternal (confirmed)
-
pathogenic
g.153607846T>C
g.154379486T>C
-
-
EMD_000002
-
PubMed: Yates
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat2
PubMed: Yates
-
M
-
Wales
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.2T>G
r.(?)
p.0?
Maternal (confirmed)
-
pathogenic
g.153607846T>G
g.154379486T>G
-
-
EMD_000003
-
PubMed: Mora
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat19a
PubMed: Mora
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.2T>G
r.(?)
p.0?
Maternal (confirmed)
-
pathogenic
g.153607846T>G
g.154379486T>G
-
-
EMD_000003
-
PubMed: Manilal
,
PubMed: Yates
,
PubMed: Paquis
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Manilal
,
PubMed: Yates
,
PubMed: Paquis
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.3G>A
r.3g>a
p.0
Maternal (confirmed)
-
pathogenic
g.153607847G>A
g.154379487G>A
-
-
EMD_000004
-
PubMed: Klauck 1995
,
PubMed: Yates
,
PubMed: de Koning Gans
,
PubMed: Hausmanowa-Petrusewicz
,
PubMed: Ellis 1998
-
-
Germline
-
-
-
-
-
DNA, RNA
PTT, RT-PCR, SEQ
-
-
EDMD
Fam2/D/K2
PubMed: Klauck 1995
,
PubMed: Yates
,
PubMed: de Koning Gans
,
PubMed: Hausmanowa-Petrusewicz
,
PubMed: Ellis 1998
carrier mother
M
-
Poland
-
-
-
-
-
1
Ieke Ginjaar
+/.
1
c.3G>A
r.(?)
p.0?
Maternal (confirmed)
-
pathogenic
g.153607847G>A
g.154379487G>A
-
-
EMD_000004
-
-
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
-
-
M
-
Germany
-
>33y
-
-
-
1
Lab Müller-Reible
?/.
1
c.3G>A
r.(?)
p.(Met1?)
Unknown
-
VUS
g.153607847G>A
g.154379487G>A
-
-
EMD_000004
-
from website {DBsub-Emory}
-
-
Unknown
-
-
-
-
-
DNA
SEQ
-
-
?
Emory-?
from website {DBsub-Emory}
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
+/.
1
c.(3_31del?)
r.(?)
p.(fs*)
Parent #1
-
pathogenic
g.?
-
29bp del
-
EMD_000000
-
PubMed: Boriani 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
EDMD
12649505-Fam1.Pt1
PubMed: Boriani 2003
carrier, 4-generation family 8 affecteds, 6 carriers
F
-
Italy
-
76y
-
-
-
1
Johan den Dunnen
+/.
1
c.(3_31del?)
r.(?)
p.(fs*)
Maternal (confirmed)
-
pathogenic
g.?
-
29bp del
-
EMD_000000
-
PubMed: Boriani 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
EDMD
12649505-Fam1.Pt2
PubMed: Boriani 2003
4-generation family 8 affecteds, 6 carriers
M
-
Italy
-
>67y
-
-
-
1
Johan den Dunnen
+/.
1
c.(3_31del?)
r.(?)
p.(fs*)
Maternal (confirmed)
-
pathogenic
g.?
-
29bp del
-
EMD_000000
-
PubMed: Boriani 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
EDMD
12649505-Fam1.Pt3
PubMed: Boriani 2003
carrier, 4-generation family 8 affecteds, 6 carriers
F
-
Italy
-
>64y
-
-
-
1
Johan den Dunnen
+/.
1
c.(3_31del?)
r.(?)
p.(fs*)
Maternal (confirmed)
-
pathogenic
g.?
-
29bp del
-
EMD_000000
-
PubMed: Boriani 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
EDMD
12649505-Fam1.Pt4
PubMed: Boriani 2003
4-generation family 8 affecteds, 6 carriers
M
-
Italy
-
>57y
-
-
-
1
Johan den Dunnen
+/.
1
c.(3_31del?)
r.(?)
p.(fs*)
Maternal (confirmed)
-
pathogenic
g.?
-
29bp del
-
EMD_000000
-
PubMed: Boriani 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
EDMD
12649505-Fam1.Pt5
PubMed: Boriani 2003
carrier, 4-generation family 8 affecteds, 6 carriers
F
-
Italy
-
>51y
-
-
-
1
Johan den Dunnen
+/.
1
c.(3_31del?)
r.(?)
p.(fs*)
Maternal (confirmed)
-
pathogenic
g.?
-
29bp del
-
EMD_000000
-
PubMed: Boriani 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
EDMD
12649505-Fam1.Pt6
PubMed: Boriani 2003
4-generation family 8 affecteds, 6 carriers
M
-
Italy
-
>40y
-
-
-
1
Johan den Dunnen
+/.
1
c.(3_31del?)
r.(?)
p.(fs*)
Maternal (confirmed)
-
pathogenic
g.?
-
29bp del
-
EMD_000000
-
PubMed: Boriani 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
EDMD
12649505-Fam1.Pt7
PubMed: Boriani 2003
4-generation family 8 affecteds, 6 carriers
M
-
Italy
-
>29y
-
-
-
1
Johan den Dunnen
+/.
1
c.(3_31del?)
r.(?)
p.(fs*)
Maternal (confirmed)
-
pathogenic
g.?
-
29bp del
-
EMD_000000
-
PubMed: Boriani 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
EDMD
12649505-Fam1.Pt8
PubMed: Boriani 2003
4-generation family 8 affecteds, 6 carriers
M
-
Italy
-
>23y
-
-
-
1
Johan den Dunnen
+/.
1
c.(3_31del?)
r.(?)
p.(fs*)
Maternal (confirmed)
-
pathogenic
g.?
-
29bp del
-
EMD_000000
-
PubMed: Boriani 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
EDMD
12649505-Fam1.Pt9
PubMed: Boriani 2003
4-generation family 8 affecteds, 6 carriers
M
-
Italy
-
>20y
-
-
-
1
Johan den Dunnen
+/.
1
c.(3_31del?)
r.(?)
p.(fs*)
Maternal (confirmed)
-
pathogenic
g.?
-
29bp del
-
EMD_000000
-
PubMed: Boriani 2003
-
-
Germline
-
-
-
-
-
DNA
SSCA, SEQ
-
-
EDMD
12649505-Fam1.Pt10
PubMed: Boriani 2003
4-generation family 8 affecteds, 6 carriers
M
-
Italy
-
>24y
-
-
-
1
Johan den Dunnen
+/.
1
c.3_31del
r.(?)
p.0?
Maternal (confirmed)
-
pathogenic
g.153607847_153607875del
g.154379487_154379515del
-
-
EMD_000087
-
PubMed: Funakoshi 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat5
PubMed: Funakoshi 1999
-
M
-
Japan
-
>23y
-
-
-
1
Johan den Dunnen
+/.
1
c.7_188-23delinsN[130]
r.?
p.(Asn3*)
Maternal (confirmed)
-
pathogenic
g.153607851_153608279delinsN[130]
-
7_188-23del429ins103
-
EMD_000015
insertion not specified
PubMed: Bione
,
PubMed: Yates
,
PubMed: Yates
,
PubMed: Ellis 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Fam1/2/Y2
PubMed: Bione
,
PubMed: Yates
,
PubMed: Yates
,
PubMed: Ellis 1998
-
M
-
United Kingdom (Great Britain)
England
-
-
-
-
1
Johan den Dunnen
?/.
1
c.12C>T
r.(?)
p.(=)
Parent #1
-
VUS
g.153607856C>T
g.154379496C>T
-
-
EMD_000148
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
-
c.19C>G
r.(?)
p.(Leu7Val)
Unknown
-
VUS
g.153607863C>G
-
EMD(NM_000117.3):c.19C>G (p.L7V)
-
FLNA_000556
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.30C>G
r.(?)
p.(Thr10=)
Unknown
-
likely benign
g.153607874C>G
g.154379514C>G
-
-
FLNA_000382
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.31del
r.(?)
p.(Glu11Serfs*2)
Maternal (confirmed)
-
pathogenic
g.153607875del
g.154379515del
31delG
-
EMD_000061
-
PubMed: Kubo
,
PubMed: Funakoshi 1999
-
-
Germline
-
-
-
-
-
DNA
SSCA
-
-
EDMD
Pat1/Pat8
PubMed: Kubo
,
PubMed: Funakoshi 1999
mother carrier
M
-
Japan
-
>10y
-
-
-
1
Johan den Dunnen
+/.
1
c.57C>G
r.(?)
p.(Tyr19*)
Maternal (confirmed)
-
pathogenic
g.153607901C>G
g.154379541C>G
-
-
EMD_000060
-
EMD-Toniolo, 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
EMD-Toniolo, 1996
-
M
-
South Africa
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.66G>T
r.(?)
p.(Pro22=)
Unknown
-
benign
g.153607910G>T
g.154379550G>T
EMD(NM_000117.3):c.66G>T (p.P22=)
-
FLNA_000383
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.71G>C
r.(?)
p.(Gly24Ala)
Unknown
-
VUS
g.153607915G>C
g.154379555G>C
-
-
FLNA_000384
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.82+1del
r.54_82del
p.Tyr19Ilefs*4
Maternal (confirmed)
-
pathogenic
g.153607927del
g.154379567del
82+1delG
-
EMD_000005
c.82+1delG
PubMed: Manilal
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
EDMD
-
PubMed: Manilal
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.82+1del
r.spl
p.?
Maternal (confirmed)
-
pathogenic
g.153607927del
g.154379567del
82+1delG
-
EMD_000005
-
PubMed: Bione
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Bione
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.82+1G>T
r.spl
p.?
Maternal (confirmed)
-
pathogenic
g.153607927G>T
g.154379567G>T
-
-
EMD_000062
-
PubMed: Nigro
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Nigro
-
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
1
c.82+5G>C
r.54_82del
p.fs?
Maternal (confirmed)
-
pathogenic
g.153607931G>C
g.154379571G>C
-
-
EMD_000006
-
PubMed: Hasegawa
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
EDMD
-
PubMed: Hasegawa
-
M
-
Japan
-
>23y
-
-
-
1
Johan den Dunnen
-?/.
-
c.82+5G>T
r.spl?
p.?
Unknown
-
likely benign
g.153607931G>T
g.154379571G>T
-
-
FLNA_000385
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
1
c.82+6_82+7insCG
r.spl?
p.(?)
Maternal (confirmed)
-
pathogenic
g.153607932_153607933insCG
g.154379572_154379573insCG
-
-
EMD_000063
-
PubMed: Bione
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Bione
-
-
-
-
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.82+17G>A
r.(=)
p.(=)
Unknown
-
likely benign
g.153607943G>A
g.154379583G>A
EMD(NM_000117.3):c.82+17G>A
-
EMD_000117
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.83-13C>G
r.(=)
p.(=)
Unknown
-
benign
g.153608037C>G
g.154379677C>G
EMD(NM_000117.2):c.83-13C>G, EMD(NM_000117.3):c.83-13C>G
-
EMD_000161
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.83-13C>G
r.(=)
p.(=)
Unknown
-
benign
g.153608037C>G
g.154379677C>G
EMD(NM_000117.2):c.83-13C>G, EMD(NM_000117.3):c.83-13C>G
-
EMD_000161
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.83-4_83del
r.spl
p.?
Maternal (confirmed)
-
pathogenic
g.153608046_153608050del
g.154379686_154379690del
-
-
EMD_000021
-
PubMed: Yates
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat5
PubMed: Yates
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.83-2A>C
r.spl
p.?
Maternal (confirmed)
-
pathogenic
g.153608048A>C
g.154379688A>C
-
-
EMD_000025
-
PubMed: Bione
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Bione
-
M
-
United States
-
-
-
-
-
1
Johan den Dunnen
+/.
-
c.83-2A>G
r.spl?
p.?
Unknown
-
pathogenic
g.153608048A>G
-
-
-
EMD_000200
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.96_155del
r.(?)
p.(Arg32_Pro51del)
Maternal (confirmed)
-
pathogenic
g.153608063_153608122del
g.154379703_154379762del
-
-
EMD_000020
-
PubMed: Talkop
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat1/2
PubMed: Talkop
2 affected brothers
M
-
Estonia
-
-
-
-
-
2
Johan den Dunnen
+/.
2
c.99_157del
r.(?)
p.(Tyr34Valfs*7)
Maternal (confirmed)
-
pathogenic
g.153608066_153608124del
g.154379706_154379764del
59nt del g.329_388del
-
EMD_000088
-
Wehnert (1999) Hum.Genet. 104:195
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
Wehnert (1999) Hum.Genet. 104:195
-
M
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.100del
r.(?)
p.(Tyr34Thrfs*31)
Maternal (confirmed)
-
pathogenic
g.153608067del
g.154379707del
100delT
-
EMD_000009
-
PubMed: Nevo 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Fam1
PubMed: Nevo 2001
3 affected siblings
-
-
Israel
-
-
-
-
-
3
Johan den Dunnen
+/.
2
c.102C>G
r.102c>g
p.Tyr34*
Maternal (confirmed)
-
pathogenic
g.153608069C>G
g.154379709C>G
-
-
EMD_000010
-
PubMed: Yates
,
PubMed: Yates
,
PubMed: de Koning Gans
-
-
Germline
-
-
-
-
-
DNA, RNA
SEQ, PTT, RT-PCR
-
-
EDMD
Pat6/Fam1
PubMed: Yates
,
PubMed: Yates
,
PubMed: de Koning Gans
-
M
-
Scotland
-
-
-
-
-
1
Ieke Ginjaar
+/.
2
c.102C>G
r.(?)
p.(Tyr34*)
Maternal (confirmed)
-
pathogenic
g.153608069C>G
g.154379709C>G
-
-
EMD_000010
-
Tverskaya ESHG2006 P0740
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
Tverskaya ESHG2006 P0740
-
M
-
Russia
-
-
-
-
-
1
Svetlana Tverskaya
-?/.
-
c.105G>A
r.(?)
p.(Glu35=)
Unknown
-
likely benign
g.153608072G>A
-
EMD(NM_000117.2):c.105G>A (p.E35=)
-
EMD_000184
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.106A>T
r.(?)
p.(Lys36*)
Maternal (confirmed)
-
pathogenic
g.153608073A>T
g.154379713A>T
-
-
EMD_000107
-
PubMed: Nigro 2010
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
20149661-PatIII3
PubMed: Nigro 2010
3-generation family, 3 female carriers
M
-
Italy
-
>13y6m
-
-
-
4
Johan den Dunnen
-/.
-
c.108G>A
r.(?)
p.(Lys36=)
Unknown
-
benign
g.153608075G>A
g.154379715G>A
EMD(NM_000117.2):c.108G>A (p.K36=), EMD(NM_000117.3):c.108G>A (p.K36=)
-
EMD_000118
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.108G>A
r.(?)
p.(Lys36=)
Unknown
-
likely benign
g.153608075G>A
g.154379715G>A
EMD(NM_000117.2):c.108G>A (p.K36=), EMD(NM_000117.3):c.108G>A (p.K36=)
-
EMD_000118
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-?/.
-
c.108G>A
r.(?)
p.(Lys36=)
Unknown
-
likely benign
g.153608075G>A
g.154379715G>A
EMD(NM_000117.2):c.108G>A (p.K36=), EMD(NM_000117.3):c.108G>A (p.K36=)
-
EMD_000118
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+?/.
-
c.110_112del
r.(?)
p.(Lys37del)
Unknown
-
likely pathogenic
g.153608077_153608079del
g.154379717_154379719del
-
-
EMD_000162
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.123C>G
r.(?)
p.(Tyr41*)
Maternal (confirmed)
-
pathogenic
g.153608090C>G
g.154379730C>G
-
-
EMD_000064
-
PubMed: Bione
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Bione
2 brothers
M
-
Germany
-
-
-
-
-
2
Johan den Dunnen
+/.
2
c.124G>T
r.(?)
p.(Glu42*)
Unknown
-
pathogenic
g.153608091G>T
g.154379731G>T
-
-
EMD_000115
-
-
-
-
Germline
-
-
-
-
-
DNA
PCR, SEQ
-
-
EDMD
-
-
-
M
-
Colombia
-
-
-
-
-
1
Tom Winder
+/.
2
c.130C>T
r.(?)
p.(Gln44*)
Maternal (confirmed)
-
pathogenic
g.153608097C>T
g.154379737C>T
-
-
EMD_000011
-
EMD-Kaplan, 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
EMD-Kaplan, 1998
-
-
-
United Kingdom (Great Britain)
England
-
-
-
-
1
Johan den Dunnen
+/.
2
c.130C>T
r.(?)
p.(Gln44*)
Maternal (confirmed)
-
pathogenic
g.153608097C>T
g.154379737C>T
-
-
EMD_000011
-
PubMed: Buckley 1999
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Buckley 1999
-
-
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.130C>T
r.130c>u
p.Gln44*
Maternal (confirmed)
-
pathogenic
g.153608097C>T
g.154379737C>T
-
-
EMD_000011
RNA reduced
PubMed: Klauck 1995
,
PubMed: Yates
,
PubMed: Ellis 1998
,
PubMed: Johnston
,
PubMed: Yates
,
OMIM:var0006
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
EDMD
-
PubMed: Klauck 1995
,
PubMed: Yates
,
PubMed: Ellis 1998
,
PubMed: Johnston
,
PubMed: Yates
,
OMIM:var0006
-
M
-
Scotland
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.130C>T
r.(?)
p.(Gln44*)
Maternal (confirmed)
-
pathogenic
g.153608097C>T
g.154379737C>T
-
-
EMD_000011
-
PubMed: Manilal
,
PubMed: Manilal
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
FamL1/3193
PubMed: Manilal
,
PubMed: Manilal
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.132G>A
r.(?)
p.(Gln44=)
Unknown
-
benign
g.153608099G>A
g.154379739G>A
EMD(NM_000117.3):c.132G>A (p.Q44=)
-
EMD_000182
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.138_163del
r.138_163del
p.Ser49Leufs*3
Maternal (confirmed)
-
pathogenic
g.153608105_153608130del
g.154379745_154379770del
-
-
EMD_000013
-
PubMed: Nevo 1999
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
EDMD
-
PubMed: Nevo 1999
3 affecteds
M
-
United States
-
>18y
-
-
-
3
Johan den Dunnen
+/.
2
c.139_140dup
r.139_140dup
p.Leu48Glyfs*18
Maternal (confirmed)
-
pathogenic
g.153608106_153608107dup
g.154379746_154379747dup
-
-
EMD_000024
-
PubMed: Bione
,
PubMed: Romeo
,
OMIM:var0004
-
-
Germline
-
-
-
-
-
DNA, RNA
RT-PCR, SEQ
-
-
EDMD
-
PubMed: Bione
,
PubMed: Romeo
,
OMIM:var0004
-
M
-
Italy
-
-
-
-
-
1
Johan den Dunnen
-/.
-
c.144C>T
r.(?)
p.(Leu48=)
Unknown
-
benign
g.153608111C>T
g.154379751C>T
EMD(NM_000117.2):c.144C>T (p.L48=), EMD(NM_000117.3):c.144C>T (p.L48=)
-
EMD_000119
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-/.
-
c.144C>T
r.(?)
p.(Leu48=)
Unknown
-
benign
g.153608111C>T
g.154379751C>T
EMD(NM_000117.2):c.144C>T (p.L48=), EMD(NM_000117.3):c.144C>T (p.L48=)
-
EMD_000119
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.148C>T
r.(?)
p.(Pro50Ser)
Unknown
-
VUS
g.153608115C>T
g.154379755C>T
EMD(NM_000117.3):c.148C>T (p.P50S)
-
EMD_000163
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.148C>T
r.(?)
p.(Pro50Ser)
Unknown
-
VUS
g.153608115C>T
g.154379755C>T
EMD(NM_000117.3):c.148C>T (p.P50S)
-
EMD_000163
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
-
c.149C>A
r.(?)
p.(Pro50His)
Unknown
-
VUS
g.153608116C>A
g.154379756C>A
EMD(NM_000117.3):c.149C>A (p.P50H)
-
EMD_000120
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
?/.
2
c.149C>A
r.(?)
p.(Pro50His)
Parent #1
-
VUS
g.153608116C>A
g.154379756C>A
-
-
EMD_000120
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
DNA
SEQ, SEQ-NG
-
targeted gene panel
LGMD
30564623-Pat
PubMed: Nallamilli 2018
-
-
-
(United States)
-
-
-
-
-
1
Madhuri Hegde
?/.
-
c.149C>A
r.(?)
p.(Pro50His)
Unknown
-
VUS
g.153608116C>A
g.154379756C>A
EMD(NM_000117.3):c.149C>A (p.P50H)
-
EMD_000120
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.153del
r.(?)
p.(Ser52Alafs*13)
Maternal (confirmed)
-
pathogenic
g.153608120del
g.154379760del
153delC
-
EMD_000014
-
PubMed: Manilal
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Manilal
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.153del
r.(?)
p.(Ser52Alafs*13)
Maternal (confirmed)
-
pathogenic
g.153608120del
g.154379760del
153delC
-
EMD_000014
-
PubMed: Yates
,
PubMed: Yates
,
PubMed: Hausmanowa-Petrusewicz
,
PubMed: Markiewicz 2002
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat9/FamP
PubMed: Yates
,
PubMed: Yates
,
PubMed: Hausmanowa-Petrusewicz
,
PubMed: Markiewicz 2002
-
-
-
Poland
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.153del
r.(?)
p.(Ser52Alafs*13)
Maternal (confirmed)
-
pathogenic
g.153608120del
g.154379760del
153delC
-
EMD_000014
-
EMD-Toniolo, 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
EMD-Toniolo, 1996
-
-
-
Italy
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.153del
r.(?)
p.(Ser52Alafs*13)
Maternal (confirmed)
-
pathogenic
g.153608120del
g.154379760del
153delC
-
EMD_000014
-
PubMed: Markiewicz 2002
, Yates 1996,
PubMed: Fidzianska 2003
,
PubMed: Fidzianska
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat1/2
PubMed: Markiewicz 2002
, Yates 1996,
PubMed: Fidzianska 2003
,
PubMed: Fidzianska
3 brothers
-
-
Poland
-
-
-
-
-
2
Johan den Dunnen
+/.
2
c.153del
r.(?)
p.(Ser52Alafs*13)
Maternal (confirmed)
-
pathogenic
g.153608120del
g.154379760del
153delC
-
EMD_000014
-
EMD-D.Toniolo, 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
EMD-D.Toniolo, 1998
-
-
-
Italy
-
-
-
-
-
1
Johan den Dunnen
?/.
-
c.157T>G
r.(?)
p.(Ser53Ala)
Unknown
-
VUS
g.153608124T>G
g.154379764T>G
-
-
EMD_000178
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.161C>T
r.(?)
p.(Ser54Phe)
Maternal (confirmed)
-
pathogenic
g.153608128C>T
g.154379768C>T
-
-
EMD_000065
-
PubMed: Ellis
, EMD-Muller, 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
PubMed: Ellis
, EMD-Muller, 1996
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
-?/.
-
c.165C>A
r.(?)
p.(Ala55=)
Unknown
-
likely benign
g.153608132C>A
g.154379772C>A
-
-
EMD_000164
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
2
c.165del
r.(?)
p.(Ala56Profs*9)
Maternal (confirmed)
-
pathogenic
g.153608132del
g.154379772del
164delC
-
EMD_000095
-
UMD: Wehnert unpublished
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
UMD: Wehnert unpublished
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.174_175del
r.(?)
p.(Tyr59*)
Maternal (confirmed)
-
pathogenic
g.153608141_153608142del
g.154379781_154379782del
-
-
EMD_000066
-
EMD-Kaplan, 1998
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
EMD-Kaplan, 1998
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.177T>A
r.(?)
p.(Tyr59*)
Maternal (confirmed)
-
pathogenic
g.153608144T>A
g.154379784T>A
-
-
EMD_000016
-
PubMed: Yates
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat10
PubMed: Yates
-
M
-
United Kingdom (Great Britain)
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.177T>A
r.(?)
p.(Tyr59*)
Maternal (confirmed)
-
pathogenic
g.153608144T>A
g.154379784T>A
-
-
EMD_000016
-
EMD-Toniolo, 1996
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
-
EMD-Toniolo, 1996
-
-
-
Germany
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.178dup
r.(?)
p.(Ser60Lysfs*4)
Maternal (confirmed)
-
pathogenic
g.153608145dup
g.154379785dup
178dupA
-
EMD_000017
-
PubMed: Nevo 2001
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Fam2
PubMed: Nevo 2001
3 affected siblings family
-
-
Israel
-
-
-
-
-
3
Johan den Dunnen
+/.
2
c.184dup
r.(?)
p.(Ser62Phefs*2)
Maternal (confirmed)
-
pathogenic
g.153608151dup
g.154379791dup
184dupT
-
EMD_000018
-
PubMed: Canki-Klain 2000
-
-
Germline
-
-
MboII+
-
-
DNA
SEQ
-
-
EDMD
Fam1
PubMed: Canki-Klain 2000
6 affecteds, 4 generation family
-
-
Yugoslavia
-
>23y
-
-
-
6
Johan den Dunnen
+/.
2
c.186dup
r.(?)
p.(Asp63*)
Maternal (confirmed)
-
pathogenic
g.153608153dup
g.154379793dup
186dupT
-
EMD_000104
-
PubMed: Yates
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat11
PubMed: Yates
-
M
-
United Kingdom (Great Britain);United States
-
-
-
-
-
1
Johan den Dunnen
+/.
2
c.187+1G>A
r.spl
p.?
Maternal (confirmed)
-
pathogenic
g.153608155G>A
g.154379795G>A
-
-
EMD_000019
-
PubMed: Yates
,
PubMed: Deymeer
,
PubMed: Yates
-
-
Germline
-
-
-
-
-
DNA
SEQ
-
-
EDMD
Pat12/FamA
PubMed: Yates
,
PubMed: Deymeer
,
PubMed: Yates
-
M
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
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