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 protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect 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
ClassClinical : classification of variant based on clinical consequences, preferably using standardised criteria; e.g. ACMG: 5 (dominant) (= disease associated, dominant inheritance), ACMG: 5 (recessive) (= disease associated, recessive inheritance), pathogenic (dominant), pathogenic (recessive), likely pathogenic (recessive) , VUS (= variant of unknown significance), likely benign (= likely not disease-associated), benign (= not disease-associated), non-disease phenotype, drug response, risk factor, associated with, etc. NOTE: pathogenic/likely pathogenic should go together with "variant affects function" In ClassFunctional
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.
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
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/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)
ClassClinical
RNA change
Protein
Allele
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/Death
VIP
Data_av
Treatment
Panel size
Owner
+/.
60i_79_
c.(8968_9118)_(*1524_?)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(?_31138512)_(31366718_31462714)del g.(?_31120395)_(31348601_31444597)del
ex61ex79del, c.9085-?_*2691del
-
DMD_016179
-
-
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
-
-
M
-
Italy
-
-
0
-
-
1
Milena Cau
+/.
0i_79_
c.-244(_-182)_(*1524_?)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del
del ex1-79; c.(-127947_-245)_*2691del
-
DMD_046504
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D174
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_79_
c.-244(_-182)_(*1524_?)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del
del ex1-79; c.(-127947_-245)_*2691del
-
DMD_046504
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D657
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_1i
c.-244(_-182)_(-182_59)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del
del ex1; c.(-127947_-245)_(31+1_32-1)del
-
DMD_046507
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D306
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_16i
c.-244(_-182)_(1852_2085)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
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
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D708
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_2i
c.-244(_-182)_(59_128)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
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
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D417
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_2i
c.-244(_-182)_(59_128)del pathogenic (recessive)
r.0?
p.0?
Unknown
g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del
del ex01ex02, c.-244-?_93+?del
-
DMD_010102
-
-
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
Healthy/Control
-
-
carrier female
F
-
Italy
-
-
0
-
-
1
Alessandra Ferlini
+/.
0i_48i
c.-244(_-182)_(7018_7099-10)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(31854946_31893385)_(33229611_33357493)del g.(31836829_31875268)_(33211494_33339376)del
del ex1-48; c.(-127947_-245)_(7098+1_7099-1)del
-
DMD_046505
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D271
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
0i_9i
c.-244(_-182)_(859_988)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(32663242_32716088)_(33229611_33357493)del g.(32645125_32697971)_(33211494_33339376)del
del ex1-9; c.(-127947_-245)_(960+1_961-1)del
-
DMD_046506
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D519
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_1i
c.-244_(-182_59)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del
del Dp427c-ex1; c.-244_(31+1_32-1)del
-
DMD_010001
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D424
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_1i
c.-244_(-182_59)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del
del Dp427c-ex1; c.-244_(31+1_32-1)del
-
DMD_010001
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D595
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_39i
c.-244_(5449-4_5587-23)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(32361426_32364201)_(33229611_?)del g.(32343309_32346084)_(33211494_?)del
del Dp427c-ex39; c.-244_(5586+1_5587-1)del
-
DMD_010039
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D432
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_2i
c.-244_(59_128)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(32867903_33038290)_(33229611_?)del g.(32849786_33020173)_(33211494_?)del
del Dp427c-ex2; c.-244_(93+1_94-1)del
-
DMD_010002
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D588
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_44i
c.-244_(6382_6538)del pathogenic (recessive)
r.?
p.(fs*)
Unknown
g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del
del Dp427c-ex44; c.-244_(6438+1_6439-1)del
-
DMD_010044
-
Ling 2019, submitted
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
D413
Ling 2019, submitted
-
M
-
China
-
-
0
-
-
1
Chao Ling
+/.
_0_47i
c.-244_(6810_7018)del pathogenic (recessive)
r.0?
p.0?
Unknown
g.(31893385_31947815)_(33229611_?)del g.(31875268_31929698)_(33211494_?)del
Dp427cex47del, (c.-244_6912+?del)
-
DMD_010047
-
-
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
-
-
-
M
-
Italy
-
-
0
-
-
1
Milena Cau
+/.
25i
c.3433-2_ 3433-1inv pathogenic (recessive)
r.spl
p.?
Maternal (confirmed)
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
+/.
_1_40i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
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.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
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.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
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
+/.
12i_51i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
del ex13 and 46-51
-
DMD_031351
-
PubMed: De Almeida 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
28116794-Pat?
PubMed: De Almeida 2017 -
M
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
2i_8i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
del ex3, 6, 8
-
DMD_030308
-
PubMed: De Almeida 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
28116794-Pat?
PubMed: De Almeida 2017 -
M
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
47i_51i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
del ex48, 49, 51
-
DMD_034851
-
PubMed: De Almeida 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
28116794-Pat?
PubMed: De Almeida 2017 -
M
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
16i_46i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
del ex17-20 / 37-40 / 45-46
-
DMD_031746
-
PubMed: De Almeida 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
28116794-Pat?
PubMed: De Almeida 2017 -
M
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
_1_43i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
del ex1-29 / dup ex37-43
-
DMD_030143
-
PubMed: De Almeida 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
28116794-Pat?
PubMed: De Almeida 2017 -
M
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
39i_53i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
dup ex40 / del ex45-53
-
DMD_034053
-
PubMed: De Almeida 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD
28116794-Pat?
PubMed: De Almeida 2017 -
M
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
51i_79_
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
dup ex52-60 / 68-79
-
DMD_035280
-
PubMed: De Almeida 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
28116794-Pat?
PubMed: De Almeida 2017 -
M
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
55i_71i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
dup ex56-60 / 62-71
-
DMD_035671
-
PubMed: De Almeida 2017 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
28116794-Pat?
PubMed: De Almeida 2017 -
M
-
Brazil
-
-
0
-
-
1
Johan den Dunnen
+/.
_1_43i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
dup ex1, ex42-43
-
DMD_030143
-
-
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
?
-
-
M
-
Mexico
-
-
0
-
no steroid therapy
1
Luz Berenice Lopez-Hernandez
+/.
_1_43i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
dup ex1, ex42-43
-
DMD_030143
-
-
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
DMD
?
-
-
M
-
Mexico
-
-
0
-
no steroid therapy
1
Luz Berenice Lopez-Hernandez
+/.
9i_44i
c.? pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.? -
dup ex10-44
-
DMD_031044
-
-
-
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD
?
-
-
M
-
Mexico
-
-
0
-
-
1
Luz Berenice Lopez-Hernandez
+/.
-
c.? pathogenic (recessive)
r.?
p.?
Unknown
g.? -
del 8-10,21-26
-
USP9X_000005
-
PubMed: Wang 2014 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat20
PubMed: Wang 2014 -
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.? pathogenic (recessive)
r.?
p.?
Unknown
g.? -
dup 3-10,21-29
-
USP9X_000005
-
PubMed: Wang 2014 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat24
PubMed: Wang 2014 -
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.? pathogenic (recessive)
r.?
p.?
Unknown
g.? -
dup 2-4; del 64
-
USP9X_000005
-
PubMed: Wang 2014 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat25
PubMed: Wang 2014 -
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
-
c.? pathogenic (recessive)
r.?
p.?
Unknown
g.? -
dup 45; del 8-10,21-30,41
-
USP9X_000005
-
PubMed: Wang 2014 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
MLPA
-
-
BMD/DMD
Pat26
PubMed: Wang 2014 -
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
56
c.? pathogenic (recessive)
r.(?)
p.?
Unknown
g.? -
8475G>A (Trp2915*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat27
PubMed: Ma 2018 carrier status mother not known
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
33
c.? pathogenic (recessive)
r.(?)
p.?
Unknown
g.? -
4567G>T (Glu1523*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat61
PubMed: Ma 2018 carrier status mother not known
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
17
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
2006T>C (Val669*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
BMD/DMD
Pat71
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
16
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
1938T>A (Cys646*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat74
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
12
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
1339C>T (Gly447*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat75
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
11
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
1255C>T (Gln419*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat86
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
10
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
c.984C>T (Arg1662*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat107
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
18
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
c.2260C>T (Arg754*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat109
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
7
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (inferred)
g.? -
541C>T (Gln181*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
De novo
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat118
PubMed: Ma 2018 mother not carrier
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
25
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
3061C>T (Gln1021*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat120
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
2
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
77A>G (Asn26*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat123
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
25
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
3028G>T (Glu1010*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
BMD/DMD
Pat124
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
11
c.? pathogenic (recessive)
r.(?)
p.?
Unknown
g.? -
1305G>A (Ser443*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat130
PubMed: Ma 2018 carrier status mother not known
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
7
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
559C>T (Gln187*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat143
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
23
c.? pathogenic (recessive)
r.(?)
p.?
Unknown
g.? -
3034delC (Ser1012Leufs*32)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat174
PubMed: Ma 2018 carrier status mother not known
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
11
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (inferred)
g.? -
1305G>A (Ser443*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
De novo
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat175
PubMed: Ma 2018 mother not carrier
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
20
c.? pathogenic (recessive)
r.(?)
p.?
Unknown
g.? -
2518G>T (Gln840*)
-
USP9X_000005
-
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
+/.
11
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
1255C>T (Gln419*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat185
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
35
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
4561G>T (Glu1523*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat191
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
18
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
2260C>T (Arg754*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat193
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
10
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
984C>T (Arg1662*)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat195
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
+/.
33
c.? pathogenic (recessive)
r.(?)
p.?
Maternal (confirmed)
g.? -
4587del (Lys1529Asnfs*13)
-
USP9X_000005
-
PubMed: Ma 2018 -
-
Germline
-
-
-
0
-
DNA
SEQ
-
-
DMD
Pat197
PubMed: Ma 2018 carrier mother
M
-
China
-
-
0
-
-
1
Johan den Dunnen
?/.
_0_1i
c.(?_-989604)_(31+79696_32-1)dup VUS
r.?
p.?
Maternal (confirmed)
g.33149703_34219033dup -
33,149,703-34,219,033dup
-
DMD_046438
duplication brain/muscle promoter unknown consequences
-
-
-
Germline
-
-
-
0
-
DNA
arrayCGH
-
-
?
-
email
carrier mother/sister and fetus
-
-
Sweden
-
-
0
-
-
1
Johan den Dunnen
-/.
_0
c.-202238G>A benign
r.(?)
p.(=)
Parent #1
g.33431667C>T -
-
-
DMD_000933
-
Affymetrix-2967194
-
-
Germline
-
0.07
-
0
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
+/.
_0_9i
c.-244_(859_988)del pathogenic (recessive)
r.0?
p.0?
Unknown
g.(32663242_32716088)_(33229611_?)del g.(32645125_32697971)_(33211494_?)del
c.-244_(960+1_961-1)del
-
DMD_010009
deletion includes DXS1242 (DYSII)
-
-
-
Germline
-
-
-
0
-
DNA
PCRm
-
-
DMD
-
-
-
M
-
France
-
-
0
-
-
1
Mireille Claustres
-?/.
_0
c.-128499_-128498del likely benign
r.(?)
p.(=)
Parent #1
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 benign
r.(=)
p.(=)
Parent #1
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_0i
c.-244_(-128064_-182)dup VUS
r.?
p.?
Maternal (confirmed)
g.(33229611_33357493)_(33229611_?)dup g.(33211494_33339376)_(33211494_?)dup
c.-244_(-127947_-245)dup
-
DMD_020000
-
-
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
?
?
-
son and carrier mother
F;M
-
-
-
-
0
-
-
2
Johan den Dunnen
?/.
_0_0i
c.-244_(-128064_-182)del VUS
r.?
p.?
Unknown
g.(33229611_33357493)_(33229611_?)del g.(33211494_33339376)_(33211494_?)del
c.-244_(-127947_-245)del
-
DMD_010000
deletion Dp427c (brain) promoter only
-
-
-
Unknown
-
-
-
0
-
DNA
PCR
-
-
DMD
-
-
-
M
-
United States
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_1i
c.(?_-128297)_(31+83220_32-1)del pathogenic (recessive)
r.0
p.0
Unknown
g.(33038318_33146179)_(33357726_?)del -
-
-
DMD_040258
deletion incl. Dp427c, Dp427p
-
-
-
Germline
-
-
-
0
-
DNA
MAPH, PCRm
-
-
DMD
-
-
-
M
-
Turkey
-
-
0
-
-
1
Ayfer Ulgenalp
+/.
_0_1i
c.(?_-128297)_(31+83220_32-1)del pathogenic (recessive)
r.0
p.0
Unknown
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.(?_-128297)_(31+83220_32-1)del pathogenic (recessive)
r.0
p.0
Unknown
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.(?_-128297)_(31+83220_32-1)del pathogenic (recessive)
r.0
p.0
Unknown
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_1i
c.-244_(-182_59)del pathogenic (recessive)
r.0?
p.0?
Unknown
g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)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)del pathogenic (recessive)
r.0?
p.?
Maternal (inferred)
g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del
chrX:g.(33109254_33109360)_(33268716_38091392)del; c.-244_(31+1_32-1)del
-
DMD_010001
159.4 Kb deletion
PubMed: delGaudio 2008 -
-
Germline
-
-
-
0
-
DNA
arrayCGH
-
-
MD
-
PubMed: delGaudio 2008 -
M
-
United States
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_1i
c.-244_(-182_59)del pathogenic (recessive)
r.0?
p.0?
Parent #1
g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)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)del pathogenic (recessive)
r.0?
p.0?
Parent #1
g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)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)del pathogenic (recessive)
r.0?
p.0?
Unknown
g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del
c.-244_(31+1_32-1)del
-
DMD_010001
deletion includes Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
PCRm
-
-
DMD
-
-
-
M
-
Serbia
Montenegro
-
0
-
-
1
Tanja Lalic
?/.
_0_1i
c.-244_(-182_59)dup VUS
r.?
p.?
Maternal (inferred)
g.(33038290_33229611)_(33229611_?)dup g.(33020173_33211494)_(33211494_?)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_2_
c.[(?_-24528297)_(-127947_-245)dup;(31+1_32-1)_(93+1_94-1)dup] pathogenic (recessive)
r.?
p.?
Maternal (inferred)
g.[(32867938_33038255)_(33038318_33229398)dup;(33229674_33357376)_(33357726_?)dup] -
-
-
DMD_030002
non-contiguous duplication exon Dp427c and exon 2
PubMed: Tuffery-Giraud 2009 , UMD 2612 database -
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
DMD
-
PubMed: Tuffery-Giraud 2009 , UMD 2612 database -
M
-
France
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_2i
c.-244_(59_128)del pathogenic (recessive)
r.0
p.0
Unknown
g.(32867903_33038290)_(33229611_?)del g.(32849786_33020173)_(33211494_?)del
Dp427c,Dp427p; c.-244_(93+1_94-1)del
-
DMD_010002
deletion incl. Dp427c
PubMed: Flanigan 2009 -
-
Germline
-
-
-
0
-
DNA
PCR
-
-
DMD
-
PubMed: Flanigan 2009 -
M
-
United States
-
-
0
-
-
1
Kevin Flanigan
+/.
_0_7_
c.[(?_-128297)_(-127947_?)dup; (31+1_32-1)_(649+1_650-1)dup] pathogenic (recessive)
r.(?)
p.?
Parent #1
g.? -
chrX:g.[(33256170_33256641)_(33268673_33268775)dup; (32711863_32712214)_(33111518_33111742)dup]
-
DMD_030007
non-contiguous duplication exons 1c (12 Kb) and 1m-7 (399 Kb)
PubMed: delGaudio 2008 -
-
Germline
-
-
-
0
-
DNA
arrayCGH, MLPA
-
-
MD
-
PubMed: delGaudio 2008 carrier female
F
-
United States
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_7i
c.-244_(558_831+11)del pathogenic (recessive)
r.0
p.?
Unknown
g.(32717218_32827701)_(33229611_?)del g.(32699101_32809584)_(33211494_?)del
Dp427c,Dp427p; c.-244_(649+1_650-1)del
-
DMD_010007
deletion incl. Dp427c
PubMed: Flanigan 2009 -
-
Germline
-
-
-
0
-
DNA
PCR
-
-
DMD
-
PubMed: Flanigan 2009 -
M
-
United States
-
-
0
-
-
1
Kevin Flanigan
+/.
_0_9_
c.[(?_-128297)_(31+1_32-1)dup; (93+1_94-1)_(960+1_961-1)dup] pathogenic (recessive)
r.?
p.?
Maternal (confirmed)
g.? -
-
-
DMD_030009
erroneously reported as non-contiguous deletion of exons Dp427c-11 excl. exon 2 (correct is duplication exons Dp427c-9 excl. exon 2)
PubMed: Schwartz 2004 -
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
PubMed: Schwartz 2004 -
M
-
Denmark
-
-
0
-
-
2
Marianne Schwartz
+/.
_0_9i
c.-244_(859_988)dup pathogenic (recessive)
r.(?)
p.?
Parent #1
g.(32663242_32716088)_(33229611_?)dup g.(32645125_32697971)_(33211494_?)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_(2226_2293-9)del pathogenic (recessive)
r.0?
p.0?
Unknown
g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del
c.-244_(2292+1_2293-1)del
-
DMD_010018
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_(2226_2293-9)del pathogenic (recessive)
r.0?
p.0?
Unknown
g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del
c.-244_(2292+1_2293-1)del
-
DMD_010018
deletion includes Dp427c
PubMed: Stockley 2007 -
-
Germline
-
-
-
0
-
DNA
PCRq
-
-
DMD
-
PubMed: Stockley 2007 -
M
-
Canada
-
-
0
-
-
1
Peter Ray
+/.
_0_18i
c.-244_(2226_2293-9)del pathogenic (recessive)
r.0?
p.0?
Parent #1
g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del
del1b-18; c.-244_(2292+1_2293-1)del
-
DMD_010018
-
PubMed: Kalman 2011 -
-
Germline
-
-
-
0
-
DNA
arraySNP, MLPA
-
-
DMD
-
PubMed: Kalman 2011 -
M
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_18i
c.-244_(2226_2293-9)del pathogenic (recessive)
r.0?
p.0?
Unknown
g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del
c.-244_(2292+1_2293-1)del
-
DMD_010018
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)del pathogenic (recessive)
r.0
p.0
Parent #1
g.(32408220_32429908)_(33229611_?)del g.(32390103_32411791)_(33211494_?)del
c.-244_(4233+1_4234-1)del
-
DMD_010030
deletion incl. Dp427c
PubMed: Piko 2009 -
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
PubMed: Piko 2009 -
?
-
Hungary
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_31i
c.(?_-128297)_(4344+1_4345-1)del pathogenic (recessive)
r.0?
p.?
Maternal (confirmed)
g.(32407730_32407789)_(38122529_38122588)del -
-
46,X,del(X)(p21.1p21.2
CYBB_000007
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)del pathogenic (recessive)
r.0
p.0
Parent #1
g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del
c.-244_(6438+1_6439-1)del
-
DMD_010044
deletion incl. Dp427c
PubMed: Piko 2009 -
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
PubMed: Piko 2009 -
?
-
Hungary
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_44i
c.-244_(6382_6538)del pathogenic (recessive)
r.0
p.0
Unknown
g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del
c.-244_(6438+1_6439-1)del
-
DMD_010044
deletion incl. Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
MAPH, PCRm
-
-
DMD
-
-
-
M
-
Turkey
-
-
0
-
-
2
Ayfer Ulgenalp
+?/.
_0_44i
c.-244_(6382_6538)del likely pathogenic
r.0?
p.0?
Maternal (confirmed)
g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)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_45i
c.-244_(6538_6706)del pathogenic (recessive)
r.0?
p.0?
Parent #1
g.(31950253_31986532)_(33229611_?)del g.(31932136_31968415)_(33211494_?)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)del pathogenic (recessive)
r.0
p.0
Parent #1
g.(31893385_31947815)_(33229611_?)del g.(31875268_31929698)_(33211494_?)del
c.-244_(6912+1_6913-1)del
-
DMD_010047
deletion incl. Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
-
-
M
-
Netherlands
-
-
0
-
-
1
Ieke Ginjaar
+/+
_0_79_
c.-244_(*1524_?)del pathogenic (recessive)
r.0
p.0
Unknown
g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del
c.-244_*2691[0]
-
DMD_010079
deletion incl. IL1RAPL1 exon 7-11 (NM_014271.3:c.778+1_779-1del), NR0B1, GK
PubMed: Zhang 2004 -
-
Unknown
-
-
-
0
-
DNA
PCR
-
-
AHC, DMD, GKD, MRX;IDX
-
PubMed: Zhang 2004 -
M
-
-
-
-
0
-
-
1
Johan den Dunnen
+/+
_0_79_
c.-244_(*1524_?)del pathogenic (recessive)
r.0
p.0
Unknown
g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del
c.-244_*2691[0]
-
DMD_010079
deletion incl. IL1RAPL1, NR0B1, GK
PubMed: Zhang 2004 -
-
Germline/De novo (untested)
-
-
-
0
-
DNA
PCR
-
-
AHC, GKD, MRX;IDX
-
PubMed: Zhang 2004 -
M
-
-
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_79_
c.-244_(*1524_?)del pathogenic (recessive)
r.0
p.0
Maternal (inferred)
g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del
chrX:g.(?_31042316)_(33268716_?)del; c.-244_*2691[0]
-
DMD_010079
>2.3 Mb whole gene deletion
PubMed: delGaudio 2008 -
-
Germline
-
-
-
0
-
DNA
arrayCGH
-
-
MD
-
PubMed: delGaudio 2008 -
M
-
United States
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_79_
c.-244_(*1524_?)del pathogenic (recessive)
r.0
p.0
Parent #1
g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del
chrX:g.(?_31042316)_(33268716_?)del; c.-244_*2691[0]
-
DMD_010079
>2.3 Mb whole gene deletion
PubMed: delGaudio 2008 -
-
Germline
-
-
-
0
-
DNA
arrayCGH
-
-
MD
-
PubMed: delGaudio 2008 carrier female
F
-
United States
-
-
0
-
-
1
Johan den Dunnen
+/.
_0_79_
c.-244_(*1524_?)del pathogenic (recessive)
r.0?
p.0?
Unknown
g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del
c.-244_*2691[0]
-
DMD_010079
whole gene deletion incl. Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
MAPH, Southern
-
-
DMD
-
-
-
M
-
Netherlands
-
-
0
-
-
1
Ieke Ginjaar
+/.
_0_79_
c.-244_(*1524_?)del pathogenic (recessive)
r.0
p.0
Parent #1
g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del
c.-244_*2691[0]
-
DMD_010079
deletion incl. Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
-
-
M
-
Netherlands
-
-
0
-
-
1
Ieke Ginjaar
+/.
_0_79_
c.-244_(*1524_?)del pathogenic (recessive)
r.0
p.0
Parent #1
g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del
c.-244_*2691[0]
-
DMD_010079
deletion incl. Dp427c
-
-
-
Germline
-
-
-
0
-
DNA
MLPA
-
-
MD
-
-
-
M
-
Netherlands
-
-
0
-
-
1
Ieke Ginjaar
+/.
_0_79_
c.-244_(*1524_?)del pathogenic (recessive)
r.0
p.0
Unknown
g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del
Dp427p; Dp427c; c.-244_*2691[0]
-
DMD_010079
deletion incl. Dp427c
PubMed: Flanigan 2009 -
-
Germline
-
-
-
0
-
DNA
PCR
-
-
DMD
-
PubMed: Flanigan 2009 -
M
-
United States
-
-
0
-
-
1
Kevin Flanigan
+/.
_0_79_
c.-244_(*1524_?)del pathogenic (recessive)
r.0
p.0
Unknown
g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del
c.-244_*2691[0]
-
DMD_010079
deletion incl. Dp427c
PubMed: Flanigan 2009 -
-
Germline
-
-
-
0
-
DNA
PCR
-
-
DMD
-
PubMed: Flanigan 2009 -
M
-
United States
-
-
0
-
-
1
Kevin Flanigan
-/.
0
c.-128249G>T benign
r.(=)
p.(=)
Parent #1
g.33357678C>A g.33339561C>A
-
-
DMD_001386
-
PubMed: Flanigan 2009 -
-
Germline
-
0.97
-
0
-
DNA
SEQ
-
-
DMD
-
PubMed: Flanigan 2009 -
-
-
-
-
-
0
-
-
1
Kevin Flanigan
