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
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-CDFB
ENIGMA
InSiGHT
kConFab
other = 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, sex-linked and imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19) : HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38) : HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as : listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN : description of the variant according to ISCN nomenclature
DB-ID : database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks : remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference : publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID : ID of variant in ClinVar database
dbSNP ID : the dbSNP ID
Origin : Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation : Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency : frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site : restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+, BamHI-
VIP : variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Methylation : result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Template : Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique : technique(s) used to identify the sequence variant.
All options:
? = unknown
- = not applicable
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
ASMM RTQ-PCR = allele-specific methylated multiplex real-time quantitative PCR
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CAGE = Cap analysis gene expression
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 = microscope (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
MSREs = Methylation sensitive restriction enzymes
MS-SeQMA = Methylation-specific Sequence-based quantitative methylation analysis
Ms-SNuPE = Methylation-sensitive single-nucleotide primer extension
MyoD = myoD induced differentiation
Northern = Northern blotting
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
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)
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
QMPSF = Quantitative Multiplex PCR of Short Fluorescent fragments
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
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
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
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:
? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents
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))
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. African, white, gypsy, jew (Ashkenazi), Sardinian, 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
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
+/.
59i_78i
c.(8798_8968)_(11046+44_*1524)dup r.?
p.?
Unknown
-
pathogenic (recessive)
g.(31138512_31144715)_(31462714_31496362)dup g.(31120395_31126598)_(31444597_31478245)dup
dup ex60-78
-
DMD_026078
-
PubMed: Kohli 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kohli 2020 analysis 1660 BMD/DMD patients
M
-
India
-
-
0
-
-
1
Sudha Kohli
+/.
0i_79
c.-244(_-182)_(*1524_?)del r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del
ex1ex79del, c.-244_*2691del
-
DMD_010179
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
F
-
Italy
-
-
0
-
-
1
Carmela Scuderi
+/.
0i_79_
c.-244(_-182)_(*1524_?)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del
del ex1-79; c.(-127947_-245)_*2691del
-
DMD_010179
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D174
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_79_
c.-244(_-182)_(*1524_?)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del
del ex1-79; c.(-127947_-245)_*2691del
-
DMD_010179
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D657
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_1i
c.-244(_-182)_(-182_59)del r.?
p.?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del
del ex1
-
DMD_010101
-
PubMed: Toksoy 2019 -
-
Germline
-
1/260 cases
-
0
-
DNA
MLPA, SEQ
-
-
DMD
CASE_0100
PubMed: Toksoy 2019 family, several affected, carrier mother
M
-
Turkey
-
-
0
-
-
1
Güven Toksoy
+/.
0i_1i
c.-244(_-182)_(-182_59)del r.?
p.?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del
del ex1
-
DMD_010101
-
PubMed: Toksoy 2019 -
-
Germline
-
1/260 cases
-
0
-
DNA
MLPA, SEQ
-
-
DMD
CASE_0148
PubMed: Toksoy 2019 family, several affected, carrier mother
M
-
Turkey
-
-
0
-
-
1
Güven Toksoy
+/.
0i_1i
c.-244(_-182)_(-182_59)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del
del ex1; c.(-127947_-245)_(31+1_32-1)del
-
DMD_046507
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D306
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_1i
c.-244(_-182)_(-182_59)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del
ex1del, c.(?_-244)_31+?del
-
DMD_010101
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Vincenzo Nigro
+/.
0i_1i
c.-244(_-182)_(-182_59)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del
ex1del, c.-244_31+?del
-
DMD_010101
-
-
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
Healthy/Control
-
-
-
F
-
Italy
-
-
0
-
-
1
Emiliano Giardina
+/.
0i_1i
c.-244(_-182)_(-182_59)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del
ex1del, c.1-?_31+?del
-
DMD_010101
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Lorena Travaglini
+/.
0i_1i
c.-244(_-182)_(-182_59)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del
del ex1
-
DMD_010101
-
PubMed: Guo 2015 -
-
Germline/De novo (untested)
-
1/613 cases
-
0
-
DNA
MLPA
-
-
DMD
MD2030
PubMed: Guo 2015 analysis 613 cases
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
0i_1i
c.-244(_-182)_(-182_59)[2] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)dup g.(33020173_33211494)_(33211494_33339376)dup
dup ex1 and dup ex3-16
-
DMD_020101
non-contiguous duplication ex1 and duplication ex3-16
PubMed: Guo 2015 -
-
Germline/De novo (untested)
-
1/613 cases
-
0
-
DNA
MLPA
-
-
DMD
MD7297
PubMed: Guo 2015 analysis 613 cases
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
0i_12i
c.-244(_-182)_(1403_1602)del r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32613874_32632499)_(33229611_33357493)del g.(32595757_32614382)_(33211494_33339376)del
ex1ex12del, c.-244_1482+?del
-
DMD_010112
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Dr Silvana Tedeschi
+/.
0i_13i
c.-244(_-182)_(1602_1603-7)del r.?
p.0?
Unknown
-
pathogenic (recessive)
g.(32591970_32613874)_(33229611_33357493)del g.(32573853_32595757)_(33211494_33339376)del
del ex1-13
-
DMD_010113
-
PubMed: Luce 2016 , Journal: Luce2016 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
#214
PubMed: Luce 2016 , Journal: Luce2016 -
M
-
Argentina
-
-
0
-
-
1
Florencia Giliberto
+/.
0i_16i
c.-244(_-182)_(1852_2085)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32563359_32583959)_(33229611_33357493)del g.(32545242_32565842)_(33211494_33339376)del
del ex1-16; c.(-127947_-245)_(1992+1_1993-1)del
-
DMD_010116
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D708
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_18i
c.-244(_-182)_(2226_2293-9)del r.?
p.0?
Maternal (confirmed)
-
pathogenic (recessive)
g.(32519968_32536191)_(33229611_33357493)del g.(32501851_32518074)_(33211494_33339376)del
del ex1-18
-
DMD_010118
-
PubMed: Zimowski 2014 -
-
Germline
-
1/180 patients
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat1298
PubMed: Zimowski 2014 analysis 180 B/DMD families; carrier mother
M
-
Poland
-
-
0
-
-
1
Johan den Dunnen
+/.
0i_6i
c.-244(_-182)_(411_558)[0] r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(32827701_32834704)_(33229611_33357493)del g.(32809584_32816587)_(33211494_33339376)del
delDp427m-ex6
-
DMD_010106
-
PubMed: Tyers 2018 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA, SEQ, RT-PCR
-
-
DMD
151006A
PubMed: Tyers 2018 -
M
-
South Africa
-
-
0
-
-
1
Johan den Dunnen
+/.
0i_7i
c.-244(_-182)_(558_831+11)del r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717218_32827701)_(33229611_33357493)del g.(32699101_32809584)_(33211494_33339376)del
del ex1-7
-
DMD_010107
-
-
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
-
-
-
-
India
-
-
0
-
-
1
Shubha R Phadke
+/.
0i_2i
c.-244(_-182)_(59_128)del r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del
del ex1-2
-
DMD_010102
-
-
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
-
-
-
-
India
-
-
0
-
-
1
Shubha R Phadke
+/.
0i_2i
c.-244(_-182)_(59_128)dup r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)dup g.(32849786_33020173)_(33211494_33339376)dup
ex1ex2dup, c.-244_93+?dup
-
DMD_020102
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Vincenzo Nigro
+/.
0i_2i
c.-244(_-182)_(59_128)dup r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)dup g.(32849786_33020173)_(33211494_33339376)dup
ex1ex2dup, c.-244_93+?dup
-
DMD_020102
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Vincenzo Nigro
+?/.
0i_2i
c.-244(_-182)_(59_128)dup r.?
p.?
Unknown
-
likely pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)dup g.(32849786_33020173)_(33211494_33339376)dup
dup ex1-2
-
DMD_020102
-
PubMed: Kohli 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kohli 2020 analysis 1660 BMD/DMD patients
M
-
India
-
-
0
-
-
1
Sudha Kohli
+/.
0i_2i
c.-244(_-182)_(59_128)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del
del ex1-2; c.(-127947_-245)_(93+1_94-1)del
-
DMD_010102
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D417
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_2i
c.-244(_-182)_(59_128)[0] r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del
del ex01ex02, c.-244-?_93+?del
-
DMD_010102
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
Healthy/Control
-
PubMed: Neri 2020 , Journal: Neri 2020 carrier female
F
-
Italy
-
-
0
-
-
1
Alessandra Ferlini
+/.
0i_2i
c.-244(_-182)_(59_128)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del
del ex1-2
-
DMD_010102
-
PubMed: Guo 2015 -
-
Germline/De novo (untested)
-
1/613 cases
-
0
-
DNA
MLPA
-
-
DMD
MD2724
PubMed: Guo 2015 analysis 613 cases
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
0i_43i
c.-244(_-182)_(6196_6382)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32235089_32305740)_(33229611_33357493)del g.(32216972_32287623)_(33211494_33339376)del
del ex1-43
-
DMD_010143
-
PubMed: Guo 2015 -
-
Germline/De novo (untested)
-
1/613 cases
-
0
-
DNA
MLPA
-
-
DMD
MD0980
PubMed: Guo 2015 analysis 613 cases
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
0i_44i
c.-244(_-182)_(6382_6538)del r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del
ex1ex44del, c.1-?_6438+?del
-
DMD_010144
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
B. Augello
+/.
0i_44i
c.-244(_-182)_(6382_6538)del r.?
p.?
Unknown
-
pathogenic (recessive)
g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del
ex1ex44del, c.1-?_6438+?del
-
DMD_010144
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Lorena Travaglini
+/.
0i_44i
c.-244(_-182)_(6382_6538)del r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del
ex1ex44del, c.-244_6438+?del
-
DMD_010144
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Carmela Scuderi
+/.
0i_44i
c.-244(_-182)_(6382_6538)del r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del
del ex1-44
-
DMD_010144
-
PubMed: Zhang 2019 -
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat30
PubMed: Zhang 2019 patient and carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
0i_45i
c.-244(_-182)_(6538_6706)del r.?
p.fs
Unknown
-
pathogenic (recessive)
g.(31950253_31986532)_(33229611_33357493)del g.(31932136_31968415)_(33211494_33339376)del
del ex01ex45, c.1-?_6614+?del
-
DMD_068105
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Filippo Maria Santorelli
+/.
0i_47i
c.-244(_-182)_(6810_7018)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(31893385_31947815)_(33229611_33357493)del g.(31875268_31929698)_(33211494_33339376)del
del ex1-47
-
DMD_010147
-
PubMed: Guo 2015 -
-
Germline/De novo (untested)
-
1/613 cases
-
0
-
DNA
MLPA
-
-
DMD
MD0136
PubMed: Guo 2015 analysis 613 cases
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
0i_48i
c.-244(_-182)_(7018_7099-10)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(31854946_31893385)_(33229611_33357493)del g.(31836829_31875268)_(33211494_33339376)del
del ex1-48; c.(-127947_-245)_(7098+1_7099-1)del
-
DMD_010148
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D271
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_9i
c.-244(_-182)_(859_988)del r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32663242_32716088)_(33229611_33357493)del g.(32645125_32697971)_(33211494_33339376)del
del ex1-9
-
DMD_010109
-
-
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
-
-
-
-
India
-
-
0
-
-
1
Shubha R Phadke
+/.
0i_9i
c.-244(_-182)_(859_988)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32663242_32716088)_(33229611_33357493)del g.(32645125_32697971)_(33211494_33339376)del
del ex1-9; c.(-127947_-245)_(960+1_961-1)del
-
DMD_010109
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D519
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_60i
c.-244(_-182)_(8968_9118)del r.?
p.?
Unknown
-
pathogenic (recessive)
g.(31366718_31462714)_(33229611_33357493)del g.(31348601_31444597)_(33211494_33339376)del
ex1ex60del, c.1-?_9084+?del
-
DMD_010160
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Lorena Travaglini
+/.
0i_60i
c.-244(_-182)_(8968_9118)del r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.(31366718_31462714)_(33229611_33357493)del g.(31348601_31444597)_(33211494_33339376)del
del ex1-60
-
DMD_010160
-
PubMed: Zhang 2019 -
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat32
PubMed: Zhang 2019 patient and carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
0i_62i
c.-244(_-182)_(9187_9246)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(31279112_31341752)_(33229611_33357493)del g.(31260995_31323635)_(33211494_33339376)del
del ex1m-62
-
DMD_010162
-
PubMed: Guo 2015 -
-
Germline/De novo (untested)
-
1/613 cases
-
0
-
DNA
MLPA
-
-
DMD
MD4223
PubMed: Guo 2015 analysis 613 cases
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_79
c.-244_(*1524_?)[0] r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del
del ex1-79
-
DMD_010079
-
PubMed: Vieitez 2017 -
-
Germline/De novo (untested)
-
1/284 cases
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Vieitez 2017 analysis 284 male cases
M
-
Spain
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_1i
c.-244_(-182_59)del r.?
p.?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del
del Dp427c-ex1
-
DMD_010001
-
PubMed: Toksoy 2019 -
-
De novo
-
1/260 cases
-
0
-
DNA
MLPA, SEQ
-
-
hCK
CASE_0225
PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier
F
-
Turkey
-
-
0
-
-
1
Güven Toksoy
+/.
_0_1i
c.-244_(-182_59)del r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del
del ex1-promotor
-
DMD_010001
-
PubMed: Garcia-Planells 2009 -
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Garcia-Planells 2009 patient, carrier mother
M
-
Spain
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_1i
c.-244_(-182_59)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del
del Dp427c-ex1; c.-244_(31+1_32-1)del
-
DMD_010001
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D424
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_1i
c.-244_(-182_59)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del
del Dp427c-ex1; c.-244_(31+1_32-1)del
-
DMD_010001
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D595
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_1i
c.-244_(-182_59)[0] r.?
p.0?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del
del Dp427c/ex1, c.(?_-128297)_31+?del
-
DMD_010001
-
PubMed: Rasic 2015 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat01
PubMed: Rasic 2015 analysis intellectual ability 41 DMD patients
M
-
Serbia
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_1i
c.-244_(-182_59)[2] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33357493_?)dup g.(33020173_33211494)_(33339376_?)dup
dup exDp427c-1 and dup ex45-49
-
DMD_020001
non-contiguous duplication exDp427c-1 and ex45-49
PubMed: Guo 2015 -
-
Germline/De novo (untested)
-
1/613 cases
-
0
-
DNA
MLPA
-
-
DMD
MD8136
PubMed: Guo 2015 analysis 613 cases
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_1i
c.-244_(-18[0]2_59)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del
del exDp427c-1
-
DMD_010001
-
PubMed: Guo 2015 -
-
Germline/De novo (untested)
-
1/613 cases
-
0
-
DNA
MLPA
-
-
DMD
MD6215
PubMed: Guo 2015 analysis 613 cases
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
_1_1i
c.-244_(31+1_32-1)del r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(33038318_33229398)_(33229673_?)del g.(33020201_33211281)_(33211556_?)del
del exPm
-
DMD_058001
-
PubMed: Zamani 2015 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
PCRm
-
-
BMD/DMD
-
PubMed: Zamani 2015 -
M
-
Iran
-
-
0
-
-
1
Johan den Dunnen
+/.
_1_1i
c.-244_(31+1_32-1)del r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(33038318_33229398)_(33229673_?)del g.(33020201_33211281)_(33211556_?)del
del exPm
-
DMD_058001
-
PubMed: Zamani 2015 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
PCRm
-
-
BMD/DMD
-
PubMed: Zamani 2015 -
M
-
Iran
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_39i
c.-244_(5449-4_5587-23)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32361426_32364201)_(33357493_?)del g.(32343309_32346084)_(33339376_?)del
del Dp427c-ex39; c.-244_(5586+1_5587-1)del
-
DMD_010039
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D432
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_2i
c.-244_(59_128)dup r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32867903_33038290)_(33357493_?)dup g.(32849786_33020173)_(33339376_?)dup
dup Dp427c-ex2
-
DMD_020002
-
PubMed: Annexstad 2019 -
-
Germline
-
1/67 cases
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Annexstad 2019 family, 2 affected boys
M
-
Norway
-
-
0
-
-
2
Johan den Dunnen
+/.
_0_2i
c.-244_(59_128)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339376_?)del
del Dp427c-ex2; c.-244_(93+1_94-1)del
-
DMD_010002
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D588
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_2i
c.-244_(59_128)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339376_?)del
del exDp427c-2
-
DMD_010002
-
PubMed: Guo 2015 -
-
Germline/De novo (untested)
-
1/613 cases
-
0
-
DNA
MLPA
-
-
DMD
MD5077
PubMed: Guo 2015 analysis 613 cases
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_44i
c.-244_(6382_6538)[0] r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del
del Dp427c-ex44; c.-244_(6438+1_6439-1)del
-
DMD_010044
-
PubMed: Ling 2020 , Journal: Ling 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D413
PubMed: Ling 2020 , Journal: Ling 2020 -
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_44i
c.-244_(6382_6538)[0] r.?
p.?
Unknown
-
pathogenic (recessive)
g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del
del exDp427c-44
-
DMD_010044
-
PubMed: Guo 2015 -
-
Germline/De novo (untested)
-
1/613 cases
-
0
-
DNA
MLPA
-
-
DMD
MD7352
PubMed: Guo 2015 analysis 613 cases
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_47i
c.-244_(6810_7018)[0] r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(31893385_31947815)_(33357493_?)del g.(31875268_31929698)_(33339376_?)del
Dp427cex47del, (c.-244_6912+?del)
-
DMD_010047
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Milena Cau
+/.
_0_9i
c.-244_(859_988)del r.?
p.0?
Unknown
-
pathogenic (recessive)
g.(32663242_32716088)_(33357493_?)del g.(32645125_32697971)_(33339376_?)del
del Dp427c-ex9
-
DMD_010009
-
PubMed: Annexstad 2019 -
-
Germline/De novo (untested)
-
1/67 cases
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Annexstad 2019 analysis 67 unrelated DMD families
M
-
Norway
-
-
0
-
-
1
Johan den Dunnen
+/.
_1_2i
c.-244_(93+1_94-1)del r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(32867938_33038255)_(33229673_?)del g.(32849821_33020138)_(33211556_?)del
del exPm,1-2
-
DMD_058002
-
PubMed: Zamani 2015 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
PCRm
-
-
BMD/DMD
-
PubMed: Zamani 2015 -
M
-
Iran
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_79_
c.-244_*2691[0] r.0
p.0
Unknown
-
pathogenic (recessive)
g.(?_31137345)_(33357493_?)del g.(?_31119228)_(33339376_?)del
del gene
-
DMD_010080
-
PubMed: Tyers 2018 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA, SEQ, RT-PCR
-
-
DMD
151020
PubMed: Tyers 2018 -
M
-
South Africa
-
-
0
-
-
1
Johan den Dunnen
+/.
24
C.3242C>A r.(?)
p.(Ser1081*)
Parent #1
-
pathogenic (recessive)
g.32482737G>T g.32464620G>T
-
-
DMD_003878
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
SEQ
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Vincenzo Nigro
+/.
25i
c.3433-2_ 3433-1inv r.spl
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.32472950_32472951inv -
3433-2_ 3433-1invAG
-
DMD_003821
-
PubMed: Wang 2019 -
-
Germline
-
-
-
0
-
DNA
SEQ-NG
-
-
BMD/DMD
Pat17
PubMed: Wang 2019 carrier mother
M
-
China
Han
-
0
-
-
1
Johan den Dunnen
+/.
0i_40i
c.? r.?
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.? -
del ex1-29 ex40
-
DMD_030140
-
PubMed: Deepha 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
28610567-Pat1
PubMed: Deepha 2017 -
M
-
India
-
-
0
-
-
1
Johan den Dunnen
+/.
3i_69i
c.? r.?
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.? -
dup ex4-6 ex61-69
-
DMD_030469
-
PubMed: Deepha 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD
28610567-Pat132
PubMed: Deepha 2017 -
M
-
India
-
-
0
-
-
1
Johan den Dunnen
+/.
44i_63i
c.? r.?
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.? -
dup ex45-55 ex63
-
DMD_034563
-
PubMed: Deepha 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
28610567-Pat93
PubMed: Deepha 2017 -
M
-
India
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.? r.?
p.?
Unknown
-
pathogenic (recessive)
g.? -
del 8-10,21-26
-
DMD_000000
-
PubMed: Wang 2014 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat20
PubMed: Wang 2014 -
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.? r.?
p.?
Unknown
-
pathogenic (recessive)
g.? -
dup 3-10,21-29
-
DMD_000000
-
PubMed: Wang 2014 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat24
PubMed: Wang 2014 -
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.? r.?
p.?
Unknown
-
pathogenic (recessive)
g.? -
dup 2-4; del 64
-
DMD_000000
-
PubMed: Wang 2014 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat25
PubMed: Wang 2014 -
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.? r.?
p.?
Unknown
-
pathogenic (recessive)
g.? -
dup 45; del 8-10,21-30,41
-
DMD_000000
-
PubMed: Wang 2014 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat26
PubMed: Wang 2014 -
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
20
c.? r.(?)
p.?
Unknown
-
pathogenic (recessive)
g.? -
2518G>T (Gln840*)
-
DMD_000000
-
PubMed: Ma 2018 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
SEQ
-
-
BMD/DMD
Pat180
PubMed: Ma 2018 carrier status mother not known
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
67
c.? r.(?)
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.? -
9669C>T (Arg3223*Ter)
-
DMD_000000
-
PubMed: Yang 2019 -
-
Germline
-
1/100 cases BMD/DMD
-
0
-
DNA
MLPA, SEQ
-
-
BMD/DMD
P88
PubMed: Yang 2019 -
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
21
c.? r.(?)
p.?
Unknown
-
pathogenic (recessive)
g.? -
2664C>T (Gln888Ter)
-
DMD_000000
-
PubMed: Yang 2019 -
-
De novo
-
1/100 cases BMD/DMD
-
0
-
DNA
MLPA, SEQ
-
-
BMD/DMD
P89
PubMed: Yang 2019 -
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
18
c.? r.(?)
p.(Ala765Cysfs*8)
Parent #1
-
pathogenic (recessive)
g.? g.?
2292dup7
-
USP9X_000005
-
PubMed: Neri 2020 , Journal: Neri 2020 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
SEQ
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020 -
M
-
Italy
-
-
0
-
-
1
Monica Traverso
+/.
-
c.? -
-
Maternal (confirmed)
-
pathogenic (recessive)
g.? g.?
-
-
DMD_000000
non contiguous duplication of exons 45-50, 53, 68, 69, 72,73,75
-
-
-
Germline
-
-
-
0
-
DNA
MLPA
Nil
-
DMD
MDCRC/3473/DBI-2651
-
-
M
no
India
Indian
17y
0
yes
-
1
Lakshmi Bremadesam
?/.
-
c.? r.?
p.?
Maternal (inferred)
-
VUS
g.? -
c.513T>A (H171Q)
-
USP9X_000005
-
PubMed: Yu 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
SEQ, SEQ-NG
-
candidate 420-gene panel
LGMD
P108
PubMed: Yu 2017 analysis 180 LGMD patients
M
-
China
-
-
0
-
-
1
Johan den Dunnen
-/.
_0
c.-202238G>A r.(?)
p.(=)
Parent #1
-
benign
g.33431667C>T -
-
-
DMD_000933
-
Affymetrix-2967194
-
-
Germline
-
0.07
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_0_9i
c.-244_(960+1_961-1)[0] r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(32663270_32715986)_(33357726_?)del g.(32645153_32697869)_(33339609_?)del
-
-
DMD_050009
deletion includes DXS1242 (DYSII)
-
-
-
Germline
-
-
-
0
-
DNA
PCRm
-
-
DMD
-
-
-
M
-
France
-
-
0
-
-
1
Mireille Claustres
-?/.
_0
c.-128499_-128498del r.(?)
p.(=)
Parent #1
-
likely benign
g.33357927_33357928del g.33339810_33339811del
Dp427c:-545_-547delAG
-
DMD_002276
-
PubMed: Flanigan 2009 -
rs72470543 Germline
-
1/606
-
0
-
DNA
PCR, SEQ
-
-
DMD
19937601.p
PubMed: Flanigan 2009 -
-
-
United States
-
-
0
-
-
1
Kevin Flanigan
-/.
_0
c.-128410A>C r.(=)
p.(=)
Parent #1
-
benign
g.33357839T>G g.33339722T>G
Dp427c:-457A>C
-
DMD_001882
-
PubMed: Flanigan 2009 -
rs66718538 Germline
-
67/637
-
0
-
DNA
SEQ
-
-
DMD
19937601.p
PubMed: Flanigan 2009 -
-
-
-
-
-
0
-
-
67
Kevin Flanigan
+/.
_0_1i
c.-244_(-182_59)[0] r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del
c.-244_(31+1_32-1)del
-
DMD_010001
deletion includes Dp427c
Jorge ESHG2006 P1191
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
Jorge ESHG2006 P1191
-
M
-
Portugal
-
-
0
-
-
2
Johan den Dunnen
+/.
_0_1i
c.-244_(-182_59)[0] r.0?
p.0?
Parent #1
-
pathogenic (recessive)
g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del
c.-244_(31+1_32-1)del
-
DMD_010001
deletion includes Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
-
-
M
-
Netherlands
-
-
0
-
-
1
Ieke Ginjaar
+/.
_0_1i
c.-244_(-182_59)[0] r.0?
p.0?
Parent #1
-
pathogenic (recessive)
g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del
c.-244_(31+1_32-1)del
-
DMD_010001
deletion includes Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
-
-
M
-
Netherlands
-
-
0
-
-
1
Ieke Ginjaar
?/.
_0_1i
c.-244_(-182_59)[2] r.?
p.?
Maternal (inferred)
-
VUS
g.(33038290_33229611)_(33357493_?)dup g.(33020173_33211494)_(33339376_?)dup
c.-244_(31+1_32-1)dup
-
DMD_020001
non-contiguous duplication duplication brain/muscle promoter and exons 45-55
-
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
DMD
-
-
-
M
no
China
Han
-
0
-
-
1
Jiang Wenting
+/.
_0_1i
c.-244_(31+1_32-1)[0] r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(33038318_33229398)_(33357726_?)del g.(33020201_33211281)_(33339609_?)del
-
-
DMD_050001
deletion includes Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
PCRm
-
-
DMD
-
-
-
M
-
Serbia
Montenegro
-
0
-
-
1
Tanja Lalic
+/.
_0_1i
c.-244_(31+29960_31+30066)[0] r.0
p.0
Maternal (inferred)
-
pathogenic (recessive)
g.(33199333_33199439)_(33358795_38181471)del g.(33181216_33181322)_(33340678_38163354)del
hg18 g.(33109254_33109360)_(33268716_38091392)del
-
DMD_038001
159.4 Kb deletion
PubMed: del Gaudio 2008 -
-
Germline
-
-
-
0
-
DNA
arrayCGH
-
-
MD
del1
PubMed: del Gaudio 2008 -
M
-
United States
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_1i
c.-244_(31+83220_32-1)[0] r.0
p.0
Unknown
-
pathogenic (recessive)
g.(33038318_33146179)_(33357726_?)del -
Dp427c,Dp427p
-
DMD_040258
deletion incl. Dp427c, Dp427p
PubMed: Flanigan 2009 -
-
Germline
-
-
-
0
-
DNA
PCR
-
-
DMD
-
PubMed: Flanigan 2009 -
M
-
United States
-
-
0
-
-
1
Kevin Flanigan
+/.
_0_1i
c.-244_(31+83220_32-1)[0] r.0
p.0
Unknown
-
pathogenic (recessive)
g.(33038318_33146179)_(33357726_?)del -
Dp427c,Dp427p
-
DMD_040258
deletion incl. Dp427c, Dp427p
PubMed: Flanigan 2009 -
-
Germline
-
-
-
0
-
DNA
PCR
-
-
DMD
-
PubMed: Flanigan 2009 -
M
-
United States
-
-
0
-
-
1
Kevin Flanigan
+/.
_0_1i
c.-244_(31+83220_32-1)[0] r.0
p.0
Unknown
-
pathogenic (recessive)
g.(33038318_33146179)_(33357726_?)del -
-
-
DMD_040258
deletion incl. Dp427c, Dp427p
PubMed: Flanigan 2009 -
-
Germline
-
-
-
0
-
DNA
PCR
-
-
MD
-
PubMed: Flanigan 2009 -
M
-
United States
-
-
0
-
-
1
Kevin Flanigan
+/.
_0_2i
c.-244_(93+1_94-1)[0] r.0
p.0
Unknown
-
pathogenic (recessive)
g.(32867938_33038255)_(33357726_?)del g.(32849821_33020138)_(33339609_?)del
Dp427c,Dp427p
-
DMD_050002
deletion incl. Dp427c
PubMed: Flanigan 2009 -
-
Germline
-
-
-
0
-
DNA
PCR
-
-
DMD
-
PubMed: Flanigan 2009 -
M
-
United States
-
-
0
-
-
1
Kevin Flanigan
+/.
_0_7i
c.-244_(649+1_650-1)[0] r.0
p.?
Unknown
-
pathogenic (recessive)
g.(32717411_32827609)_(33357726_?)del g.(32699294_32809492)_(33339609_?)del
Dp427c,Dp427p
-
DMD_050007
deletion incl. Dp427c
PubMed: Flanigan 2009 -
-
Germline
-
-
-
0
-
DNA
PCR
-
-
DMD
-
PubMed: Flanigan 2009 -
M
-
United States
-
-
0
-
-
1
Kevin Flanigan
+/.
_0_9i
c.-244_(859_988)[2] r.(?)
p.?
Parent #1
-
pathogenic (recessive)
g.(32663242_32716088)_(33357493_?)dup g.(32645125_32697971)_(33339376_?)dup
ex1ex9dup; c.-244_(960+1_961-1)dup
-
DMD_020009
-
-
-
-
Unknown
-
-
-
0
-
DNA
MLPA
-
-
DMD
-
-
-
M
-
Italy
-
-
0
-
-
1
Alessandra Ferlini
+/+
_0_18i
c.-244_(2292+1_2293-1)[0] r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(32519960_32536124)_(33357726_?)del g.(32501843_32518007)_(33339609_?)del
-
-
DMD_050018
breakpoint within 5 kb centromeric of BB (cell line GM07691B), deletion includes Dp427c
PubMed: Brown 1996 -
-
Unknown
-
-
-
0
-
DNA
Southern, PCR
-
-
CGDX, MCLDS
-
PubMed: Brown 1996 -
M
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_18i
c.-244_(2292+1_2293-1)[0] r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(32519960_32536124)_(33357726_?)del g.(32501843_32518007)_(33339609_?)del
-
-
DMD_050018
deletion includes Dp427c
PubMed: Stockley 2006 -
-
Germline
-
-
-
0
-
DNA
PCRq
-
-
DMD
-
PubMed: Stockley 2007 analysis 165 BMD/DMD cases
M
-
Canada
-
-
0
-
-
1
Peter Ray
+/.
_0_18i
c.-244_(2292+1_2293-1)[0] r.0?
p.0?
Parent #1
-
pathogenic (recessive)
g.(32519960_32536124)_(33357726_?)del g.(32501843_32518007)_(33339609_?)del
del1b-18
-
DMD_050018
-
PubMed: Kalman 2011 -
-
Germline
-
-
-
0
-
DNA
arraySNP, MLPA
-
-
DMD
-
PubMed: Kalman 2011 -
M
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_18i
c.-244_(2292+1_2293-1)[0] r.0?
p.0?
Unknown
-
pathogenic (recessive)
g.(32519960_32536124)_(33357726_?)del g.(32501843_32518007)_(33339609_?)del
-
-
DMD_050018
centrimeric breakpoint close to marker BBJ, deletion includes Dp427c
PubMed: Brown -
-
Germline
-
-
-
0
-
DNA
Southern, PCR
-
-
CGD, DMD, MCLDS
-
PubMed: Brown -
M
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_30i
c.-244_(4194_4312)[0] r.0
p.0
Parent #1
-
pathogenic (recessive)
g.(32408220_32429908)_(33357493_?)del g.(32390103_32411791)_(33339376_?)del
c.-244_(4233+1_4234-1)del
-
DMD_010030
deletion incl. Dp427c
PubMed: Piko 2009 -
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
PubMed: Piko 2009 analysis 135 BMD/DMD cases
?
-
Hungary
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_31i
c.-244_(4344+1_4345-1)[0] r.0?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.(32407730_32407789)_(38122529_38122588)del -
-
46,X,del(X)(p21.1p21.2
DMD_042217
5711.4 kb deletion
PubMed: Arai 2012 -
-
Germline
-
-
-
0
-
DNA
arrayCGH
-
-
CGD
22383943-Pat5
PubMed: Arai 2012 carrier mother
F
-
Japan
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_44i
c.-244_(6382_6538)[0] r.0
p.0
Parent #1
-
pathogenic (recessive)
g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del
c.-244_(6438+1_6439-1)del
-
DMD_010044
deletion incl. Dp427c
PubMed: Piko 2009 -
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
PubMed: Piko 2009 analysis 135 BMD/DMD cases
?
-
Hungary
-
-
0
-
-
1
Johan den Dunnen
+?/.
_0_44i
c.-244_(6382_6538)[0] r.0?
p.0?
Maternal (confirmed)
-
likely pathogenic
g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del
c.-244_(6438+1_6439-1)del
-
DMD_010044
-
-
-
-
Germline
-
-
-
0
-
DNA
MLPA
peripheral blood
-
BMD/DMD
-
-
-
M
-
Peru
-
04y
0
-
-
1
Martin Cruz
+/.
_0_44i
c.-244_(6438+1_6439-1)[0] r.0
p.0
Unknown
-
pathogenic (recessive)
g.(31986632_32235032)_(33357726_?)del g.(31968515_32216915)_(33339609_?)del
-
-
DMD_050044
deletion incl. Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
MAPH, PCRm
-
-
DMD
-
-
-
M
-
Turkey
-
-
0
-
-
2
Ayfer Ulgenalp
+/.
_0_45i
c.-244_(6538_6706)[0] r.0?
p.0?
Parent #1
-
pathogenic (recessive)
g.(31950253_31986532)_(33357493_?)del g.(31932136_31968415)_(33339376_?)del
ex1ex45del; c.-244_(6614+1_6615-1)del
-
DMD_010045
-
-
-
-
Unknown
-
-
-
0
-
DNA
MLPA
-
-
DMD
-
-
-
M
-
Romania
-
-
0
-
-
1
Alessandra Ferlini
+/.
_0_47i
c.-244_(6810_7018)[0] r.0
p.0
Parent #1
-
pathogenic (recessive)
g.(31893385_31947815)_(33357493_?)del g.(31875268_31929698)_(33339376_?)del
c.-244_(6912+1_6913-1)del
-
DMD_010047
deletion incl. Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
-
-
M
-
Netherlands
-
-
0
-
-
1
Ieke Ginjaar
