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
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
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs?)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Ramos 2016 , Journal: Ramos 2016
-
-
Germline
-
-
-
-
-
DNA
?
-
-
-
-
PubMed: Ramos 2016 , Journal: Ramos 2016
-
M
-
Puerto Rico
-
>25y
-
-
no medication; no scoliosis surgery;
1
Manuel F. Mas Rodriguez
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.94_649dup
p.Asp217Valfs*7
Maternal (confirmed)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94+1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Punetha 2016
-
-
Germline
yes
-
-
-
-
DNA, RNA
arrayCGH, RT-PCR, SEQ
-
-
BMD/DMD
FamPatIII1
PubMed: Punetha 2016
patient III1
M
no
United States
-
-
-
-
-
1
Jaya Punetha
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Parent #1
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
ex3ex7 dup; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
-
-
-
-
M
-
Italy
-
-
-
-
-
1
Alessandra Ferlini
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
de novo, in patient
PubMed: Tuffery-Giraud 2009 , UMD 2360 database
-
-
De novo
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 2360 database
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
de novo, in patient
PubMed: Tuffery-Giraud 2009 , UMD 1656 database
-
-
De novo
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 1656 database
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Tuffery-Giraud 2009 , UMD 2767 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
MD
-
PubMed: Tuffery-Giraud 2009 , UMD 2767 database
-
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Tuffery-Giraud 2009 , UMD 372 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 372 database
-
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Tuffery-Giraud 2009 , UMD 373 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 373 database
-
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Tuffery-Giraud 2009 , UMD 1021 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 1021 database
-
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Tuffery-Giraud 2009 , UMD 1022 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 1022 database
-
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Tuffery-Giraud 2009 , UMD 1023 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 1023 database
-
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Tuffery-Giraud 2009 , UMD 2326 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 2326 database
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
de novo, in patient
PubMed: Tuffery-Giraud 2009 , UMD 2544 database
-
-
De novo
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 2544 database
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Lesca , UMD 134 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Lesca , UMD 134 database
patient A/III-3
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Parent #1
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Lesca , UMD 2642 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
MD
-
PubMed: Lesca , UMD 2642 database
symptomatic DMD carrier; patient A/II-1
F
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Parent #1
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Lesca , UMD 2641 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
MD
-
PubMed: Lesca , UMD 2641 database
symptomatic DMD carrier; patient A/III-1
F
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Tuffery-Giraud 2009 , UMD 443 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
BMD
-
PubMed: Tuffery-Giraud 2009 , UMD 443 database
-
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Tuffery-Giraud 2009 , UMD 374 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 374 database
-
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
de novo, in patient
PubMed: Tuffery-Giraud 2009 , UMD 13 database
-
-
De novo
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 13 database
-
M
-
(France)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Moizard 1998 , UMD 1720 database
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Moizard 1998 , UMD 1720 database
-
M
-
France
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(?)
p.fs
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Lee 2012
-
-
Unknown
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Lee 2012
-
M
-
Korea, South (Republic)
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: White 2002
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRm, Southern
-
-
Healthy/Control
-
PubMed: White 2002
carrier mother DMD
F
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Parent #1
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
MD
-
-
-
M
-
Netherlands
-
-
-
-
-
1
Ieke Ginjaar
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
change not detected by PTT; de novo, in mother (grandmaternal allele)
PubMed: Tuffery-Giraud 2004
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2004
-
M
-
France
-
-
-
-
-
1
Mireille Claustres
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
change not detected by PTT; de novo, in mother (grandmaternal allele)
PubMed: Tuffery-Giraud 2004
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2004
-
M
-
France
-
-
-
-
-
1
Mireille Claustres
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
Dworniczak ESHG2008 P01.204
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
MD
-
Dworniczak ESHG2008 P01.204
-
M
-
(Germany)
-
-
-
-
-
1
Bernd Dworniczak
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Janssen 2005
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Janssen 2005
-
M
-
(Germany)
-
-
-
-
-
1
Bart Janssen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Taylor 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
DMD
-
PubMed: Taylor 2007
-
M
-
Australia
-
-
-
-
-
1
Michael Buckley
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Taylor 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Taylor 2007
-
M
-
Australia
-
-
-
-
-
1
Michael Buckley
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*?)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Taylor 2007
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
BMD
-
PubMed: Taylor 2007
-
M
-
Australia
-
-
-
-
-
1
Michael Buckley
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
de novo, in patient
-
-
-
De novo
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
-
-
M
-
Romania
-
-
-
-
-
1
Elena Neagu
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Flanigan 2009
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Flanigan 2009
-
M
-
United States
-
-
-
-
-
1
Kevin Flanigan
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Parent #1
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA, PCRq
-
-
DMD
-
-
-
M
-
Italy
-
-
-
-
-
1
Alessandra Ferlini
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(?)
p.fs
Parent #1
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
ex3ex7dup; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
-
-
-
Unknown
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
-
-
M
-
Italy
-
-
-
-
-
1
Alessandra Ferlini
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(?)
p.fs
Parent #1
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
ex3ex7dup; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
-
-
-
Unknown
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
-
-
M
-
Italy
-
-
-
-
-
1
Alessandra Ferlini
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(?)
p.fs
Parent #1
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
ex3ex7dup; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
-
-
-
Unknown
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
-
-
M
-
Serbia
-
-
-
-
-
1
Alessandra Ferlini
+?/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Unknown
-
likely pathogenic
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup 03-07; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
-
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
MD
-
-
-
F
-
Argentina
-
-
-
-
-
1
Maria Roque Moreno
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(94_649dup)
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Carsana 2010
-
-
Unknown
-
-
-
-
-
DNA
MLPA
-
-
DMD
-
PubMed: Carsana 2010
-
M
-
Italy
-
-
-
-
-
1
Antonella Carsana
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Wang 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
DMD
Pat?
PubMed: Wang 2017
analysis 131 BMD/DMD families,
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Maternal (inferred)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Cho 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
DMD
Pat?
PubMed: Cho 2017
-
M
-
Korea
-
-
-
-
-
1
Moon-Woo Seong
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Polavarapu 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Polavarapu 2019
analysis 606 BMD/DMD cases, isolated case
M
-
India
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Ling 2020 , Journal: Ling 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
D841
PubMed: Ling 2020 , Journal: Ling 2020
-
M
-
China
-
-
-
-
-
1
Chao Ling
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Ling 2020 , Journal: Ling 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
D842
PubMed: Ling 2020 , Journal: Ling 2020
-
M
-
China
-
-
-
-
-
1
Chao Ling
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7, c.(93+1_94-1)_(649+1_650-1)dup
-
DMD_020307
-
PubMed: Spitali 2019 , Journal: Spitali 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
?
-
-
BMD/DMD
-
PubMed: Spitali 2019 , Journal: Spitali 2019
-
M
-
-
-
-
-
-
-
1
Irina Zaharieva
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
ex3-7 dup
-
DMD_020307
-
PubMed: Ansar 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
Pat12
PubMed: Ansar 2019
-
M
-
Pakistan
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
ex3-7 dup
-
DMD_020307
-
PubMed: Ansar 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
Pat22
PubMed: Ansar 2019
-
M
-
Pakistan
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
ex3ex7dup, c.94-?_649+?dup
-
DMD_020307
-
PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020
-
M
-
Italy
-
-
-
-
-
1
B. Augello
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
ex3ex7dup, c.94-?_649+?dup
-
DMD_020307
-
PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Neri 2020 , Journal: Neri 2020
-
M
-
Italy
-
-
-
-
-
1
Vincenzo Nigro
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
-
-
DMD_020307
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
-
-
M
-
Italy
-
-
-
-
-
1
Giacomo Comi
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
-
-
DMD_020307
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
-
-
M
-
Italy
-
-
-
-
-
1
Giacomo Comi
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Luce 2016 , Journal: Luce 2016
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
#183
PubMed: Luce 2016 , Journal: Luce 2016 PubMed: Luce 2021
-
M
-
Argentina
-
-
-
-
-
1
Florencia Giliberto
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Vieitez 2017
-
-
Germline/De novo (untested)
-
1/284 cases
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Vieitez 2017
analysis 284 male cases
M
-
Spain
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
DNA
MLPA
-
-
DMD
MD6231
PubMed: Guo 2015
analysis 613 cases
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Toksoy 2019
-
-
Germline
-
1/260 cases
-
-
-
DNA
MLPA, SEQ
-
-
DMD
CASE_0043
PubMed: Toksoy 2019
singleton patient, no family history, carrier mother
M
-
Turkey
-
-
-
-
-
1
Güven Toksoy
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Toksoy 2019
-
-
De novo
-
1/260 cases
-
-
-
DNA
MLPA, SEQ
-
-
DMD
CASE_0282
PubMed: Toksoy 2019
singleton patient, no family history, mother not a carrier
M
-
Turkey
-
-
-
-
-
1
Güven Toksoy
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Mah 2011
-
-
Germline/De novo (untested)
-
2/773 cases
-
-
-
DNA
MLPA, SEQ
-
-
BMD/DMD
dup
PubMed: Mah 2011
analysis 773 patients with confirmed diagnosis
M
-
Canada
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Ma 2018 , Journal: Ma 2018
-
-
Germline/De novo (untested)
-
2/1042 cases
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Ma 2018 , Journal: Ma 2018
analysis 1042 confirmed unrelated cases
M
-
China
-
-
-
-
-
1
Shiwen Wu
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Wang 2019
-
-
Germline/De novo (untested)
-
1/70 cases
-
-
-
DNA
MLPA, SEQ
-
-
BMD/DMD
P48
PubMed: Wang 2019
analysis 70 unrelated MD families
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Zhao 2018
-
-
Germline/De novo (untested)
-
1/121 patients
-
-
-
DNA
MLPA
-
-
BMD/DMD
M031
PubMed: Zhao 2018
analysis 121 unrelated male probands
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Zhao 2018
-
-
Germline/De novo (untested)
-
1/121 patients
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Zhao 2018
analysis 121 unrelated male probands
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7, c.94-?_649+?dup
-
DMD_020307
-
PubMed: Murugan 2010
-
-
Germline/De novo (untested)
-
1/150 patients
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Murugan 2010
analysis 150 unrelated DMD cases
M
-
India
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs*)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7, c.94-?_649+?dup
-
DMD_020307
-
PubMed: Rasic 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
Pat03
PubMed: Rasic 2015
analysis intellectual ability 41 DMD patients
M
-
Serbia
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7 and 44
-
DMD_020307
non-contiguous duplication ex3-7 and 44
PubMed: Wang 2009
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
D149
PubMed: Wang 2009
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Wang 2009
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
837
PubMed: Wang 2009
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.fs
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
-
-
DMD_020307
-
PubMed: Selvatici 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
?
PubMed: Selvatici 2020
-
M
-
Ukraine
-
-
-
-
-
1
Alessandra Ferlini
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Mah 2011
-
-
Germline/De novo (untested)
-
2/773 cases
-
-
-
DNA
MLPA, SEQ
-
-
BMD/DMD
dup
PubMed: Mah 2011
analysis 773 patients with confirmed diagnosis
M
-
Canada
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Ma 2018 , Journal: Ma 2018
-
-
Germline/De novo (untested)
-
2/1042 cases
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Ma 2018 , Journal: Ma 2018
analysis 1042 confirmed unrelated cases
M
-
China
-
-
-
-
-
1
Shiwen Wu
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Kohli 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kohli 2020
analysis 1660 BMD/DMD patients
M
-
India
-
-
-
-
-
1
Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Kohli 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kohli 2020
analysis 1660 BMD/DMD patients
M
-
India
-
-
-
-
-
1
Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Kohli 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kohli 2020
analysis 1660 BMD/DMD patients
M
-
India
-
-
-
-
-
1
Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Kohli 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kohli 2020
analysis 1660 BMD/DMD patients
M
-
India
-
-
-
-
-
1
Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Kohli 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kohli 2020
analysis 1660 BMD/DMD patients
M
-
India
-
-
-
-
-
1
Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Kohli 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kohli 2020
analysis 1660 BMD/DMD patients
M
-
India
-
-
-
-
-
1
Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Kohli 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kohli 2020
analysis 1660 BMD/DMD patients
M
-
India
-
-
-
-
-
1
Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Takeshima 2010
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
?
PubMed: Takeshima 2010
analysis 442 BMD/DMD cases
M
-
Japan
-
-
-
-
-
1
Masafumi Matsuo
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Takeshima 2010
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
?
PubMed: Takeshima 2010
analysis 442 BMD/DMD cases
M
-
Japan
-
-
-
-
-
1
Masafumi Matsuo
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Takeshima 2010
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
?
PubMed: Takeshima 2010
analysis 442 BMD/DMD cases
M
-
Japan
-
-
-
-
-
1
Masafumi Matsuo
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.fs
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Lim 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Lim 2020
-
-
-
Canada
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.fs
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Lim 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Lim 2020
-
-
-
Canada
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
possible overlap with cases from Ling 2020
PubMed: Tong 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Tong 2020
possible overlap with cases from Ling 2020
M
-
China
-
-
-
-
-
1
Yi Dai
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
P034/P035
BMD/DMD
-
-
-
M
-
India
-
-
-
-
-
1
Shubha R Phadke
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Maternal (confirmed)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Yun 2021
-
-
Germline
-
-
-
-
-
DNA
MLPA, SEQ
-
-
DMD
Pat168
PubMed: Yun 2021
possible duplicate older publication
M
-
Korea
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs)
Maternal (confirmed)
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Cohen 2022
-
-
Germline
-
-
-
-
-
DNA
MLPA
-
-
Healthy/Control
-
PubMed: Cohen 2022
analysis 12,362 females for DMD, brother with DMD (25y-deceased)
F
-
Israel
Arab;Muslim
-
-
-
-
2
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
-
-
DMD_020307
-
PubMed: Yuan 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD
-
PubMed: Yuan 2018
analysis 95 BMD cases
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Niu 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
Pat37
PubMed: Niu 2020
-
M
-
China
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Zinina 2022
-
-
Germline/De novo (untested)
-
6/788 cases BMD/DMD
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Zinina 2022
-
M
-
Russia
-
-
-
-
-
1
ALexandr Polyakov
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Zinina 2022
-
-
Germline/De novo (untested)
-
6/788 cases BMD/DMD
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Zinina 2022
-
M
-
Russia
-
-
-
-
-
1
ALexandr Polyakov
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Zinina 2022
-
-
Germline/De novo (untested)
-
6/788 cases BMD/DMD
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Zinina 2022
-
M
-
Russia
-
-
-
-
-
1
ALexandr Polyakov
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Zinina 2022
-
-
Germline/De novo (untested)
-
6/788 cases BMD/DMD
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Zinina 2022
-
M
-
Russia
-
-
-
-
-
1
ALexandr Polyakov
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Zinina 2022
-
-
Germline/De novo (untested)
-
6/788 cases BMD/DMD
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Zinina 2022
-
M
-
Russia
-
-
-
-
-
1
ALexandr Polyakov
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Zinina 2022
-
-
Germline/De novo (untested)
-
6/788 cases BMD/DMD
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Zinina 2022
-
M
-
Russia
-
-
-
-
-
1
ALexandr Polyakov
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Suarez-Calvet 2023
-
-
Unknown
-
-
-
-
-
DNA
MLPA
-
-
DMD
Pat2
PubMed: Suarez-Calvet 2023
quadriceps muscle biopsy single nuclei RNA sequencing
M
-
-
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.(fs)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Singer 2023
-
-
Germline
-
1/85,737 healthy females
-
-
-
DNA
MLPA
-
-
Healthy/Control
-
PubMed: Singer 2023
pan-ethnic female DMD carrier screening (85,737 tests)
F
-
Israel
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Kekou 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kekou 2023
retrospective analysis of persistent hyperCKemia with/without muscle weakness
-
-
Greece
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Kekou 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Kekou 2023
retrospective analysis of persistent hyperCKemia with/without muscle weakness
-
-
Greece
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.(del)
p.(del)
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7,ex25
-
DMD_020307
non-contiguous duplication ex3-7 and ex25
PubMed: Mori-Yoshimura 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Mori-Yoshimura 2018
-
M
-
Japan
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Braga 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Braga 2023
patient
M
-
Brazil
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Ozkalayci 2024 , Journal: Ozkalayci 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Ozkalayci 2024 , Journal: Ozkalayci 2024
-
-
-
Turkey
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Amr 2024
-
-
Germline/De novo (untested)
-
1/1250 cases
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Amr 2024
-
M
-
Egypt
-
-
-
-
-
1
Johan den Dunnen
+/.
2i_7i
c.(58_127)_(557_831+10)dup
r.?
p.?
Unknown
-
pathogenic (recessive)
g.(32717219_32827702)_(32867904_33038291)dup
g.(32699102_32809585)_(32849787_33020174)dup
dup ex3-7
-
DMD_020307
-
PubMed: Sagi-Dain 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
DNA
MLPA
-
-
BMD/DMD
-
PubMed: Sagi-Dain 2024
patient, no family history
M
-
Israel
-
-
-
-
-
1
Johan den Dunnen