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.
Reported : The number of times this variant has been reported in the database.
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
Classification method : The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
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, sex-linked and imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19) : HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38) : HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as : listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN : description of the variant according to ISCN nomenclature
DB-ID : database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks : remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference : publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID : ID of variant in ClinVar database
dbSNP ID : the dbSNP ID
Origin : Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation : Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency : frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site : restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+, BamHI-
VIP : variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Methylation : result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
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
Owner
+/.
2
62i_78i
c.(9187_9246)_(11046+44_*1524)del
r.?
p.fs
-
pathogenic (recessive)
g.(31138512_31144715)_(31279112_31341752)del
g.(31120395_31126598)_(31260995_31323635)del
del ex63-78
-
DMD_016378
-
PubMed: Lim 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
3
0i_79_, 0i_79
c.-244(_-182)_(*1524_?){0}
r.?, r.0?
p.(fs*), p.0?
-
pathogenic (recessive)
g.(?_31138512)_(33229611_33357493)del
g.(?_31120395)_(33211494_33339376)del
del ex1-79; c.(-127947_-245)_*2691del, ex1ex79del, c.-244_*2691del
-
DMD_010179
-
PubMed: Ling 2020 , Journal: Ling 2020 , PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Chao Ling , Carmela Scuderi
+/.
7
0i_1i
c.-244(_-182)_(-182_59){0}
r.?
p.?, p.(fs*)
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)del
g.(33020173_33211494)_(33211494_33339376)del
del ex1, ex1del, c.-244_31+?del, ex1del, c.1-?_31+?del, ex1del, c.(?_-244)_31+?del, 1 more item
-
DMD_010101, DMD_046507
-
PubMed: Guo 2015 , PubMed: Neri 2020 , Journal: Neri 2020 , PubMed: Ling 2020 , Journal: Ling 2020 , 1 more item
-
-
Germline/De novo (untested), Germline
-
1/613 cases, 1/260 cases
-
-
-
Johan den Dunnen , Emiliano Giardina , Lorena Travaglini , Vincenzo Nigro , Chao Ling , Güven Toksoy
+/.
1
0i_1i
c.-244(_-182)_(-182_59){2}
r.?
p.?
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)dup
g.(33020173_33211494)_(33211494_33339376)dup
dup ex1 and dup ex3-16
-
DMD_020101
non-contiguous duplication ex1 and duplication ex3-16
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen
+/.
1
0i_12i
c.-244(_-182)_(1403_1602){0}
r.?
p.(fs*)
-
pathogenic (recessive)
g.(32613874_32632499)_(33229611_33357493)del
g.(32595757_32614382)_(33211494_33339376)del
ex1ex12del, c.-244_1482+?del
-
DMD_010112
-
PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Dr Silvana Tedeschi
+/.
1
0i_13i
c.-244(_-182)_(1602_1603-7){0}
r.?
p.0?
-
pathogenic (recessive)
g.(32591970_32613874)_(33229611_33357493)del
g.(32573853_32595757)_(33211494_33339376)del
del ex1-13
-
DMD_010113
-
PubMed: Luce 2016 , Journal: Luce2016
-
-
Germline/De novo (untested)
-
-
-
-
-
Florencia Giliberto
+/.
1
0i_16i
c.-244(_-182)_(1852_2085){0}
r.?
p.(fs*)
-
pathogenic (recessive)
g.(32563359_32583959)_(33229611_33357493)del
g.(32545242_32565842)_(33211494_33339376)del
del ex1-16; c.(-127947_-245)_(1992+1_1993-1)del
-
DMD_010116
-
PubMed: Ling 2020 , Journal: Ling 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Chao Ling
+/.
1
0i_18i
c.-244(_-182)_(2226_2293-9){0}
r.?
p.0?
-
pathogenic (recessive)
g.(32519968_32536191)_(33229611_33357493)del
g.(32501851_32518074)_(33211494_33339376)del
del ex1-18
-
DMD_010118
-
PubMed: Zimowski 2014
-
-
Germline
-
1/180 patients
-
-
-
Johan den Dunnen
+/.
1
0i_6i
c.-244(_-182)_(411_558){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32827701_32834704)_(33229611_33357493)del
g.(32809584_32816587)_(33211494_33339376)del
delDp427m-ex6
-
DMD_010106
-
PubMed: Tyers 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
0i_7i
c.-244(_-182)_(558_831+11){0}
r.?
p.?
-
pathogenic (recessive)
g.(32717218_32827701)_(33229611_33357493)del
g.(32699101_32809584)_(33211494_33339376)del
del ex1-7
-
DMD_010107
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
Shubha R Phadke
+/.
4
0i_2i
c.-244(_-182)_(59_128){0}
r.?, r.0?
p.?, p.(fs*), p.0?
-
pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)del
g.(32849786_33020173)_(33211494_33339376)del
del ex1-2, del ex1-2; c.(-127947_-245)_(93+1_94-1)del, del ex01ex02, c.-244-?_93+?del
-
DMD_010102
-
PubMed: Guo 2015 , PubMed: Ling 2020 , Journal: Ling 2020 , PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen , Chao Ling , Alessandra Ferlini , Shubha R Phadke
+/., +?/.
3
0i_2i
c.-244(_-182)_(59_128){2}
r.?
p.?
-
pathogenic (recessive), likely pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)dup
g.(32849786_33020173)_(33211494_33339376)dup
ex1ex2dup, c.-244_93+?dup, dup ex1-2
-
DMD_020102
-
PubMed: Neri 2020 , Journal: Neri 2020 , PubMed: Kohli 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Vincenzo Nigro , Sudha Kohli
+/.
1
0i_43i
c.-244(_-182)_(6196_6382){0}
r.?
p.?
-
pathogenic (recessive)
g.(32235089_32305740)_(33229611_33357493)del
g.(32216972_32287623)_(33211494_33339376)del
del ex1-43
-
DMD_010143
-
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen
+/.
4
0i_44i
c.-244(_-182)_(6382_6538){0}
r.?, r.0?
p.?, p.(fs*), p.0?
-
pathogenic (recessive)
g.(31986532_32235089)_(33229611_33357493)del
g.(31968415_32216972)_(33211494_33339376)del
ex1ex44del, c.1-?_6438+?del, del ex1-44, ex1ex44del, c.-244_6438+?del
-
DMD_010144
-
PubMed: Neri 2020 , Journal: Neri 2020 , PubMed: Zhang 2019
-
-
Germline/De novo (untested), Germline
-
-
-
-
-
Lorena Travaglini , Johan den Dunnen , B. Augello , Carmela Scuderi
+/.
1
0i_45i
c.-244(_-182)_(6538_6706){0}
r.?
p.fs
-
pathogenic (recessive)
g.(31950253_31986532)_(33229611_33357493)del
g.(31932136_31968415)_(33211494_33339376)del
del ex01ex45, c.1-?_6614+?del
-
DMD_068105
-
PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Filippo Maria Santorelli
+/.
1
0i_47i
c.-244(_-182)_(6810_7018){0}
r.?
p.?
-
pathogenic (recessive)
g.(31893385_31947815)_(33229611_33357493)del
g.(31875268_31929698)_(33211494_33339376)del
del ex1-47
-
DMD_010147
-
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen
+/.
1
0i_48i
c.-244(_-182)_(7018_7099-10){0}
r.?
p.(fs*)
-
pathogenic (recessive)
g.(31854946_31893385)_(33229611_33357493)del
g.(31836829_31875268)_(33211494_33339376)del
del ex1-48; c.(-127947_-245)_(7098+1_7099-1)del
-
DMD_010148
-
PubMed: Ling 2020 , Journal: Ling 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Chao Ling
+/.
2
0i_9i
c.-244(_-182)_(859_988){0}
r.?
p.?, p.(fs*)
-
pathogenic (recessive)
g.(32663242_32716088)_(33229611_33357493)del
g.(32645125_32697971)_(33211494_33339376)del
del ex1-9, del ex1-9; c.(-127947_-245)_(960+1_961-1)del
-
DMD_010109
-
PubMed: Ling 2020 , Journal: Ling 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Shubha R Phadke , Chao Ling
+/.
2
0i_60i
c.-244(_-182)_(8968_9118){0}
r.?
p.?
-
pathogenic (recessive)
g.(31366718_31462714)_(33229611_33357493)del
g.(31348601_31444597)_(33211494_33339376)del
ex1ex60del, c.1-?_9084+?del, del ex1-60
-
DMD_010160
-
PubMed: Neri 2020 , Journal: Neri 2020 , PubMed: Zhang 2019
-
-
Germline/De novo (untested), Germline
-
-
-
-
-
Lorena Travaglini , Johan den Dunnen
+/.
1
0i_62i
c.-244(_-182)_(9187_9246){0}
r.?
p.?
-
pathogenic (recessive)
g.(31279112_31341752)_(33229611_33357493)del
g.(31260995_31323635)_(33211494_33339376)del
del ex1m-62
-
DMD_010162
-
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen
+/.
1
_0_79
c.-244_(*1524_?){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(?_31138512)_(33357493_?)del
g.(?_31120395)_(33339376_?)del
del ex1-79
-
DMD_010079
-
PubMed: Vieitez 2017
-
-
Germline/De novo (untested)
-
1/284 cases
-
-
-
Johan den Dunnen
+/.
3
_0_1i
c.-244_(-182_59){0}
r.?
p.(fs*), p.0?
-
pathogenic (recessive)
g.(33038290_33357493)_(33357493_?)del, g.(33038290_33229611)_(33357493_?)del
g.(33020173_33339376)_(33339376_?)del, g.(33020173_33211494)_(33339376_?)del
del Dp427c-ex1; c.-244_(31+1_32-1)del, del Dp427c/ex1, c.(?_-128297)_31+?del
-
DMD_010001
-
PubMed: Ling 2020 , Journal: Ling 2020 , PubMed: Rasic 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
Chao Ling , Johan den Dunnen
+/.
1
_0_1i
c.-244_(-182_59){2}
r.?
p.?
-
pathogenic (recessive)
g.(33038290_33229611)_(33357493_?)dup
g.(33020173_33211494)_(33339376_?)dup
dup exDp427c-1 and dup ex45-49
-
DMD_020001
non-contiguous duplication exDp427c-1 and ex45-49
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen
+/.
1
_0_1i
c.-244_(-18{0}2_59){0}
r.?
p.?
-
pathogenic (recessive)
g.(33038290_33229611)_(33357493_?)del
g.(33020173_33211494)_(33339376_?)del
del exDp427c-1
-
DMD_010001
-
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen
+/.
1
_0_39i
c.-244_(5449-4_5587-23){0}
r.?
p.(fs*)
-
pathogenic (recessive)
g.(32361426_32364201)_(33357493_?)del
g.(32343309_32346084)_(33339376_?)del
del Dp427c-ex39; c.-244_(5586+1_5587-1)del
-
DMD_010039
-
PubMed: Ling 2020 , Journal: Ling 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Chao Ling
+/.
2
_0_2i
c.-244_(59_128){0}
r.?
p.?, p.(fs*)
-
pathogenic (recessive)
g.(32867903_33038290)_(33357493_?)del
g.(32849786_33020173)_(33339376_?)del
del exDp427c-2, del Dp427c-ex2; c.-244_(93+1_94-1)del
-
DMD_010002
-
PubMed: Guo 2015 , PubMed: Ling 2020 , Journal: Ling 2020
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen , Chao Ling
+/.
2
_0_44i
c.-244_(6382_6538){0}
r.?
p.?, p.(fs*)
-
pathogenic (recessive)
g.(31986532_32235089)_(33357493_?)del
g.(31968415_32216972)_(33339376_?)del
del exDp427c-44, del Dp427c-ex44; c.-244_(6438+1_6439-1)del
-
DMD_010044
-
PubMed: Guo 2015 , PubMed: Ling 2020 , Journal: Ling 2020
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen , Chao Ling
+/.
1
_0_47i
c.-244_(6810_7018){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(31893385_31947815)_(33357493_?)del
g.(31875268_31929698)_(33339376_?)del
Dp427cex47del, (c.-244_6912+?del)
-
DMD_010047
-
PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Milena Cau
+/.
1
_0_79_
c.-244_*2691{0}
r.0
p.0
-
pathogenic (recessive)
g.(?_31137345)_(33357493_?)del
g.(?_31119228)_(33339376_?)del
del gene
-
DMD_010080
-
PubMed: Tyers 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
24
C.3242C>A
r.(?)
p.(Ser1081*)
-
pathogenic (recessive)
g.32482737G>T
g.32464620G>T
-
-
DMD_003878
1 more item
PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Vincenzo Nigro
+/., ?/.
13
0i_40i, 3i_69i, 44i_63i, 67, 21, 18, 20
c.?
r.?, r.(?), -
p.?, p.(Ala765Cysfs*8), -
-
pathogenic (recessive), VUS
g.?
g.?
del ex1-29 ex40, dup ex4-6 ex61-69, dup ex45-55 ex63, del 8-10,21-26, c.513T>A (H171Q), 2292dup7, 6 more items
-
DMD_030140, DMD_030469, DMD_034563, DMD_000000, USP9X_000005
non contiguous duplication of exons 45-50, 53, 68, 69, 72,73,75
PubMed: Deepha 2017 , PubMed: Wang 2014 , PubMed: Yu 2017 , PubMed: Yang 2019 , 2 more items
-
-
Germline/De novo (untested), Germline, De novo
-
1/100 cases BMD/DMD
-
-
-
Johan den Dunnen , Monica Traverso , Lakshmi Bremadesam
-/.
1
_0
c.-202238G>A
r.(?)
p.(=)
-
benign
g.33431667C>T
g.33413550C>T
-
-
DMD_000933
-
Affymetrix-2967194
-
-
Germline
-
0.07
-
-
-
Johan den Dunnen
+/.
1
_0_9i
c.-244_(960+1_961-1){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32663270_32715986)_(33357726_?)del
g.(32645153_32697869)_(33339609_?)del
-
-
DMD_050009
deletion includes DXS1242 (DYSII)
-
-
-
Germline
-
-
-
-
-
Mireille Claustres
-?/.
1
_0
c.-128499_-128498del
r.(?)
p.(=)
-
likely benign
g.33357931_33357932del
g.33339814_33339815del
Dp427c:-545_-547delAG
-
DMD_002276
-
PubMed: Flanigan 2009
-
rs72470543
Germline
-
1/606
-
-
-
Kevin Flanigan
-/.
1
_0
c.-128410A>C
r.(=)
p.(=)
-
benign
g.33357839T>G
g.33339722T>G
Dp427c:-457A>C
-
DMD_001882
-
PubMed: Flanigan 2009
-
rs66718538
Germline
-
67/637
-
-
-
Kevin Flanigan
+/.
3
_0_1i
c.-244_(-182_59){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(33038290_33357493)_(33357493_?)del
g.(33020173_33339376)_(33339376_?)del
c.-244_(31+1_32-1)del
-
DMD_010001
deletion includes Dp427c
Jorge ESHG2006 P1191
-
-
Germline
-
-
-
-
-
Ieke Ginjaar , Johan den Dunnen
?/.
1
_0_1i
c.-244_(-182_59){2}
r.?
p.?
-
VUS
g.(33038290_33229611)_(33357493_?)dup
g.(33020173_33211494)_(33339376_?)dup
c.-244_(31+1_32-1)dup
-
DMD_020001
non-contiguous duplication duplication brain/muscle promoter and exons 45-55
-
-
-
Germline
-
-
-
-
-
Jiang Wenting
+/.
1
_0_1i
c.-244_(31+1_32-1){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(33038318_33229398)_(33357726_?)del
g.(33020201_33211281)_(33339609_?)del
-
-
DMD_050001
deletion includes Dp427c
-
-
-
Germline
-
-
-
-
-
Tanja Lalic
+/.
1
_0_1i
c.-244_(31+29960_31+30066){0}
r.0
p.0
-
pathogenic (recessive)
g.(33199333_33199439)_(33358795_38181471)del
g.(33181216_33181322)_(33340678_38163354)del
hg18 g.(33109254_33109360)_(33268716_38091392)del
-
DMD_038001
159.4 Kb deletion
PubMed: del Gaudio 2008
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
3
_0_1i
c.-244_(31+83220_32-1){0}
r.0
p.0
-
pathogenic (recessive)
g.(33038318_33146179)_(33357726_?)del
-
Dp427c,Dp427p
-
DMD_040258
deletion incl. Dp427c, Dp427p
PubMed: Flanigan 2009
-
-
Germline
-
-
-
-
-
Kevin Flanigan
+/.
1
_0_2i
c.-244_(93+1_94-1){0}
r.0
p.0
-
pathogenic (recessive)
g.(32867938_33038255)_(33357726_?)del
g.(32849821_33020138)_(33339609_?)del
Dp427c,Dp427p
-
DMD_050002
deletion incl. Dp427c
PubMed: Flanigan 2009
-
-
Germline
-
-
-
-
-
Kevin Flanigan
+/.
1
_0_7i
c.-244_(649+1_650-1){0}
r.0
p.?
-
pathogenic (recessive)
g.(32717411_32827609)_(33357726_?)del
g.(32699294_32809492)_(33339609_?)del
Dp427c,Dp427p
-
DMD_050007
deletion incl. Dp427c
PubMed: Flanigan 2009
-
-
Germline
-
-
-
-
-
Kevin Flanigan
+/.
1
_0_9i
c.-244_(859_988){2}
r.(?)
p.?
-
pathogenic (recessive)
g.(32663242_32716088)_(33357493_?)dup
g.(32645125_32697971)_(33339376_?)dup
ex1ex9dup; c.-244_(960+1_961-1)dup
-
DMD_020009
-
-
-
-
Unknown
-
-
-
-
-
Alessandra Ferlini
+/., +/+
4
_0_18i
c.-244_(2292+1_2293-1){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32519960_32536124)_(33357726_?)del
g.(32501843_32518007)_(33339609_?)del
del1b-18
-
DMD_050018
deletion includes Dp427c, centrimeric breakpoint close to marker BBJ, deletion includes Dp427c, 1 more item
PubMed: Kalman 2011 , PubMed: Stockley 2006 , PubMed: Brown 1996 , PubMed: Brown
-
-
Germline, Unknown
-
-
-
-
-
Johan den Dunnen , Peter Ray
+/.
1
_0_30i
c.-244_(4194_4312){0}
r.0
p.0
-
pathogenic (recessive)
g.(32408220_32429908)_(33357493_?)del
g.(32390103_32411791)_(33339376_?)del
c.-244_(4233+1_4234-1)del
-
DMD_010030
deletion incl. Dp427c
PubMed: Piko 2009
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
_0_31i
c.-244_(4344+1_4345-1){0}
r.0?
p.?
-
pathogenic (recessive)
g.(32407730_32407789)_(38122529_38122588)del
-
-
46,X,del(X)(p21.1p21.2
DMD_042217
5711.4 kb deletion
PubMed: Arai 2012
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+?/., +/.
2
_0_44i
c.-244_(6382_6538){0}
r.0?, r.0
p.0?, p.0
-
likely pathogenic, pathogenic (recessive)
g.(31986532_32235089)_(33357493_?)del
g.(31968415_32216972)_(33339376_?)del
c.-244_(6438+1_6439-1)del
-
DMD_010044
deletion incl. Dp427c
PubMed: Piko 2009
-
-
Germline
-
-
-
-
-
Martin Cruz , Johan den Dunnen
+/.
1
_0_44i
c.-244_(6438+1_6439-1){0}
r.0
p.0
-
pathogenic (recessive)
g.(31986632_32235032)_(33357726_?)del
g.(31968515_32216915)_(33339609_?)del
-
-
DMD_050044
deletion incl. Dp427c
-
-
-
Germline
-
-
-
-
-
Ayfer Ulgenalp
+/.
1
_0_45i
c.-244_(6538_6706){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(31950253_31986532)_(33357493_?)del
g.(31932136_31968415)_(33339376_?)del
ex1ex45del; c.-244_(6614+1_6615-1)del
-
DMD_010045
-
-
-
-
Unknown
-
-
-
-
-
Alessandra Ferlini
+/.
1
_0_47i
c.-244_(6810_7018){0}
r.0
p.0
-
pathogenic (recessive)
g.(31893385_31947815)_(33357493_?)del
g.(31875268_31929698)_(33339376_?)del
c.-244_(6912+1_6913-1)del
-
DMD_010047
deletion incl. Dp427c
-
-
-
Germline
-
-
-
-
-
Ieke Ginjaar
+/.
2
_0_79_
c.-244_(*1524_?){0}
r.0
p.0
-
pathogenic (recessive)
g.(?_31138512)_(33357493_?)del
g.(?_31120395)_(33339376_?)del
c.-244_*2691[0]
-
DMD_010079
deletion incl. Dp427c
-
-
-
Germline
-
-
-
-
-
Ieke Ginjaar
+/., +/+
7
_0_79_
c.-244_*2691{0}
r.0, r.0?
p.0, p.0?
-
pathogenic (recessive)
g.(?_31137345)_(33357726_?)del
g.(?_31119228)_(33339609_?)del
hg18 g.(?_31042316)_(33268716_?)del, Dp427p; Dp427c
-
DMD_050080
deletion incl. Dp427c, whole gene deletion incl. Dp427c, >2.3 Mb whole gene deletion, 2 more items
PubMed: Flanigan 2009 , PubMed: del Gaudio 2008 , PubMed: Zhang 2004
-
-
Germline, Unknown, Germline/De novo (untested)
-
-
-
-
-
Kevin Flanigan , Ieke Ginjaar , Johan den Dunnen
-/.
1
0
c.-128249G>T
r.(=)
p.(=)
-
benign
g.33357678C>A
g.33339561C>A
-
-
DMD_001386
-
PubMed: Flanigan 2009
-
-
Germline
-
0.97
-
-
-
Kevin Flanigan
-/.
3
0
c.-128163A>G
r.(?), r.(=)
p.(=)
-
benign
g.33357592T>C
g.33339475T>C
Dp427c:-210A>G
-
DMD_000379
-
PubMed: Flanigan 2009
-
rs5927163
Germline
-
36/692, 0.11, 2/28
-
-
-
Kevin Flanigan , Laurence Michel-Calemard , Franziska Joncourt
-/.
1
_1
c.-127831del
r.(=)
p.(=)
-
benign
g.33357262del
g.33339145del
-127831delA
-
DMD_001387
-
-
-
-
Germline
-
0.01
-
-
-
Kevin Flanigan
-/.
1
_1
c.-127810T>C
r.(=)
p.(=)
-
benign
g.33357239A>G
g.33339122A>G
-
-
DMD_001388
-
-
-
-
Germline
-
0.01
-
-
-
Kevin Flanigan
?/.
1
0i_7i
c.-244_(649+1_650-1){2}
r.?
p.?
-
VUS
g.(32717411_32827609)_(33229674_33357375)dup
g.(32699294_32809492)_(33211557_33339258)dup
-
-
DMD_060107
extra copy exons 1m-7 DMD gene
email request
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
0i_2i
c.-244(_-182)_(59_128){0}
r.?
p.?
-
pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)del
g.(32849786_33020173)_(33211494_33339376)del
ex1ex2del; c.-244_(93+1_94-1)del
-
DMD_010102
-
-
-
-
Unknown
-
-
-
-
-
Alessandra Ferlini
+/.
1
0i_13i
c.-244(_-182)_(1602_1603-7){0}
r.?
p.?
-
pathogenic (recessive)
g.(32591970_32613874)_(33229611_33357493)del
g.(32573853_32595757)_(33211494_33339376)del
ex1ex13del; c.-244_(1602+1_1603-1)del
-
DMD_010113
-
-
-
-
Unknown
-
-
-
-
-
Alessandra Ferlini
-/.
1
_1
c.-46953C>G
r.(?)
p.(=)
-
benign
g.33276382G>C
g.33258265G>C
-
-
DMD_000932
-
Affymetrix-2967109
-
-
Germline
-
0.46
-
-
-
Johan den Dunnen
?/.
1
_1_
c.(?_-25798)_(7+108860_?)x3
r.?
p.?
-
VUS
g.(?_33120563)_(33255227_?)[3]
-
chrX(33,158,437-33,293,101)x3
-
DMD_040076
unknown reference sequence hg18 or hg19; 2 copies detected, location additional copy not determined
-
-
-
Unknown
-
-
-
-
-
Johan den Dunnen
-/.
1
_1
c.-25482G>C
r.(?)
p.(=)
-
benign
g.33254911C>G
g.33236794C>G
-
-
DMD_000931
-
Affymetrix-2967095
-
-
Germline
-
0.04
-
-
-
Johan den Dunnen
+/.
1
_1_1i
c.-13496_31+1783del
r.0?
p.0?
-
pathogenic (recessive)
g.33227618_33242927del
g.33209501_33224810del
-
-
DMD_001358
15.3 kb deletion
PubMed: Muntoni , PubMed: Bastianutto 2002 , {GenBankAF324932},
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
_1_1i
c.-1443_31+4726delinsTTTTTAAAATTA
r.0?
p.0?
-
pathogenic (recessive)
g.33224673_33230872delinsTAATTTTAAAAA
g.33206556_33212755delinsTAATTTTAAAAA
-1443_31+4726delins12
-
DMD_001359
6.2 kb deletion
PubMed: Bastianutto 2002 , {GenBankAF373844}
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/.
1
_1
c.-807A>T
r.(=)
p.(=)
-
benign
g.33230236T>A
g.33212119T>A
-
-
DMD_001389
-
-
-
-
Germline
-
0.01
-
-
-
Kevin Flanigan
+/.
1
_1_1
c.-648_0dup
r.(?)
p.(Met1?)
-
pathogenic (recessive)
g.33229430_33230077dup
g.33211313_33211960dup
-
-
DMD_002085
de novo, in patient
UMD 366 database
-
-
De novo
-
-
-
-
-
Johan den Dunnen
-/.
1
_1
c.-419A>G
r.(?)
p.(=)
-
benign
g.33229848T>C
g.33211731T>C
-176A>G
-
DMD_001008
-
PubMed: Tuffery 1993
-
-
Germline
-
1/13
-
-
-
Mireille Claustres
?/.
2
_1
c.-342G>A
r.(?)
p.(=)
-
VUS
g.33229771C>T
g.33211654C>T
-
-
DMD_046369
-
PubMed: Nallamilli 2018
-
-
Germline
-
-
-
-
-
Madhuri Hegde
+/.
2
_0_1i
c.-244_(-182_59){0}
r.?
p.?
-
pathogenic (recessive)
g.(33038290_33229611)_(33357493_?)del
g.(33020173_33211494)_(33339376_?)del
del ex1-promotor, del Dp427c-ex1
-
DMD_010001
-
PubMed: Garcia-Planells 2009 , PubMed: Toksoy 2019
-
-
Germline, De novo
-
1/260 cases
-
-
-
Johan den Dunnen , Güven Toksoy
+/.
2
_1_1i
c.-244_(31+1_32-1){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(33038318_33229398)_(33229673_?)del
g.(33020201_33211281)_(33211556_?)del
del exPm
-
DMD_058001
-
PubMed: Zamani 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
_0_2i
c.-244_(59_128){2}
r.?
p.?
-
pathogenic (recessive)
g.(32867903_33038290)_(33357493_?)dup
g.(32849786_33020173)_(33339376_?)dup
dup Dp427c-ex2
-
DMD_020002
-
PubMed: Annexstad 2019
-
-
Germline
-
1/67 cases
-
-
-
Johan den Dunnen
+/.
1
_1_2i
c.-244_(93+1_94-1){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32867938_33038255)_(33229673_?)del
g.(32849821_33020138)_(33211556_?)del
del exPm,1-2
-
DMD_058002
-
PubMed: Zamani 2015
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
0i_4i
c.-244_(264+1_265-1){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32841505_32862899)_(33229674_33357375)del
g.(32823388_32844782)_(33211557_33339258)del
-
-
DMD_050104
Dp427c present
-
-
-
Germline
-
-
-
-
-
Ayfer Ulgenalp
+/.
1
_0_9i
c.-244_(859_988){0}
r.?
p.0?
-
pathogenic (recessive)
g.(32663242_32716088)_(33357493_?)del
g.(32645125_32697971)_(33339376_?)del
del Dp427c-ex9
-
DMD_010009
-
PubMed: Annexstad 2019
-
-
Germline/De novo (untested)
-
1/67 cases
-
-
-
Johan den Dunnen
+/.
1
_0_18i
c.-244_2293-1942inv
r.0?
p.0?
-
pathogenic (recessive)
g.[32521901_35180354inv;35180355_35180365delinsCAACTCCTG]
-
-
-
DMD_046509
-
PubMed: Cummings 2017
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/+
5
_1_79_
c.-244_*2691{0}
r.0
p.0
-
pathogenic (recessive)
g.(25040000_28600000)_(33229674_?)del, g.(28606165_29935580)_(33229674_?)del, 2 more items
-
-
-
DMD_040079, DMD_040080, DMD_040081, DMD_040082
deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD, deletion incl. NR0B1 (DAX1), GK, DMD, 2 more items
PubMed: Zhang 2004 , Journal: Zhang 2004
-
-
Unknown
yes
-
-
-
-
Johan den Dunnen
+/.
11
_1_1i
c.(?_-182)_(-182_59)del
r.?, r.0?
p.?, p.0?
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_?)del, g.(33038290_33229611)_((33229611_?)del
g.(33020173_33211494)_(33211494_?)del, g.(33020173_33211494)_((33211494_?)del
del ex1, del ex1-1, del ex1 and dup ex2
-
DMD_018001
non-contiguous deletion (ex1)/duplication (ex2)
PubMed: Mah 2011 , PubMed: Ma 2018 , Journal: Ma 2018 , PubMed: Lim 2020 , PubMed: Takeshima 2010 , 1 more item
-
-
Germline/De novo (untested), Germline
-
2/773 cases, 3/1042 cases, 1/1042 cases
-
-
-
Johan den Dunnen , Shiwen Wu , Masafumi Matsuo
+/.
1
_1_1i
c.(?_-182)_(-182_59)dup
r.?
p.?
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_?)dup
g.(33020173_33211494)_(33211494_?)dup
dup ex1
-
DMD_028001
-
PubMed: Ma 2018 , Journal: Ma 2018
-
-
Germline/De novo (untested)
-
1/1042 cases
-
-
-
Shiwen Wu
+/.
10
0i_1i
c.-244(_-182)_(-182_59){0}
r.0?, r.?, r.(e1-e1del)
p.0?, p.?
-
pathogenic (recessive)
g.(33038290_33229611)_(33229611_33357493)del
g.(33020173_33211494)_(33211494_33339376)del
c.-244_(31+1_32-1)del, del ex1; c.-244_(31+1_32-1)del, del e1; c.-244_(31+1_32-1)del
-
DMD_010101
del incl. promotor; de novo, in patient
PubMed: Tuffery-Giraud 2009 , UMD 1987 database , PubMed: López-Hernández 2015 , PubMed: Chen 2013 , 5 more items
-
-
Germline, Germline/De novo (untested), De novo, Unknown
yes
-
-
-
-
Johan den Dunnen , Luz Berenice Lopez-Hernandez , Ieke Ginjaar
+?/., +/., -/., ?/.
5
0i_1i
c.-244(_-182)_(-182_59){2}
r.(=?), r.?
p.(=?), p.?
-
likely pathogenic, pathogenic (recessive), benign, VUS
g.(33038290_33229611)_(33229611_33357493)dup
g.(33020173_33211494)_(33211494_33339376)dup
c.-244_(31+1_32-1)dup
-
DMD_020101
duplication Dp427m promoter
PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 , PubMed: López-Hernández 2015
-
-
Germline
-
-
-
-
-
Johan den Dunnen , Ieke Ginjaar , Lucila Sandoval Ramirez , Luz Berenice Lopez-Hernandez
+/.
1
_0_1i
c.-244_(-182_59){0}
r.0
p.0
-
pathogenic (recessive)
g.(33038290_33229611)_(33357493_?)del
g.(33020173_33211494)_(33339376_?)del
del ex1; c.-244_(31+1_32-1)del
-
DMD_010001
-
PubMed: Cho 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
Moon-Woo Seong
+/.
8
_1_1i
c.-244_(31+1_32-1){0}
r.0?, r.0
p.0?, p.?, p.0
-
pathogenic (recessive)
g.(33038318_33229398)_(33229673_?)del
g.(33020201_33211281)_(33211556_?)del
-
-
DMD_058001
Dp427c present, no Dp427m RNA, in muscle Dp427c transcript (not in heart), del incl. promotor, 1 more item
PubMed: Beggs , PubMed: Hoffman , PubMed: Flanigan 2009 , PubMed: Muntoni , PubMed: Muntoni , OMIM:var0021 , 3 more items
-
-
Germline
-
-
-
-
-
Johan den Dunnen , Kevin Flanigan , Albena Todorova , Mireille Claustres
+/.
1
_1_2i
c.(?_-182)_(59_128)del
r.0?
p.0?
-
pathogenic (recessive)
g.(32867903_33038290)_(33229611_?)del
g.(32849786_33020173)_(33211494_?)del
del ex1-2
-
DMD_018002
-
PubMed: Takeshima 2010
-
-
Germline/De novo (untested)
-
-
-
-
-
Masafumi Matsuo
+/.
3
0i_2i
c.-244(_-182)_(59_128){0}
r.0?, r.0
p.0?, p.0
-
pathogenic (recessive)
g.(32867903_33038290)_(33229611_33357493)del
g.(32849786_33020173)_(33211494_33339376)del
c.-244_(93+1_94-1)del, del ex1-2; c.-244_(93+1_94-1)del
-
DMD_010102
-
PubMed: Polavarapu 2019 , PubMed: Zeng 2007
-
-
Germline, Germline/De novo (untested)
-
-
-
-
-
Alessandra Ferlini , Johan den Dunnen
+/.
4
_1_2i
c.-244_(93+1_94-1){0}
r.0?
p.0?, p.0
-
pathogenic (recessive)
g.(32867938_33038255)_(33229673_?)del
g.(32849821_33020138)_(33211556_?)del
-
-
DMD_058002
deletion muscle promoter
PubMed: Covone 1991 , PubMed: Gilgenkrantz , PubMed: Carsana 2010 , PubMed: Baumbach
-
-
Germline, Unknown
-
-
-
-
-
Johan den Dunnen , Antonella Carsana
+/.
1
_0_3i
c.-244_(128_228){0}
r.0
p.0
-
pathogenic (recessive)
g.(32862936_32867903)_(33357493_?)del
g.(32844819_32849786)_(33339376_?)del
del ex1-3; c.-244_(186+1_187-1)del
-
DMD_010003
-
PubMed: Cho 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
Moon-Woo Seong
+/.
1
_1_3i
c.-244_(186+1_187-1){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32862978_32867844)_(33229673_?)del
g.(32844861_32849727)_(33211556_?)del
-
-
DMD_058003
-
PubMed: Yuge
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
_1_4i
c.-244_(264+1_265-1){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32841505_32862899)_(33229673_?)del
g.(32823388_32844782)_(33211556_?)del
-
-
DMD_058004
-
PubMed: Yuge
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
0i_5i
c.-244(_-182)_(310_411){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32834704_32841459)_(33229611_33357493)del
g.(32816587_32823342)_(33211494_33339376)del
c.-244_(357+1_358-1)del
-
DMD_010105
-
PubMed: Janssen 2005
-
-
Germline
-
-
-
-
-
Bart Janssen
+/.
1
0i_6i
c.-244(_-182)_(411_558){0}
r.?
p.?
-
pathogenic (recessive)
g.(32827701_32834704)_(33229611_33357493)del
g.(32809584_32816587)_(33211494_33339376)del
del ex1-6; c.-244_(530+1_531-1)del
-
DMD_030106
-
PubMed: De Almeida 2017
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
2
_1_7i
c.(?_-182)_(558_831+11)del
r.?
p.?
-
pathogenic (recessive)
g.(32717218_32827701)_(33229611_?)del
g.(32699101_32809584)_(33211494_?)del
del ex1-7
-
DMD_018007
-
PubMed: Ma 2018 , Journal: Ma 2018
-
-
Germline/De novo (untested)
-
2/1042 cases
-
-
-
Shiwen Wu
+/.
1
_1_7i
c.(?_-182)_(558_831+11)dup
r.?
p.?
-
pathogenic (recessive)
g.(32717218_32827701)_(33229611_?)dup
g.(32699101_32809584)_(33211494_?)dup
dup ex1-7
-
DMD_028007
-
PubMed: Mah 2011
-
-
Germline/De novo (untested)
-
1/773 cases
-
-
-
Johan den Dunnen
+/.
4
0i_7i
c.-244(_-182)_(558_831+11){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32717218_32827701)_(33229611_33357493)del
g.(32699101_32809584)_(33211494_33339376)del
c.-244_(649+1_650-1)del
-
DMD_010107
-
PubMed: Tuffery-Giraud 2009 , UMD 2562 database , PubMed: Tuffery-Giraud 2009 , UMD 1909 database , 2 more items
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
_0_7i
c.-244_(558_831+11){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32717218_32827701)_(33357493_?)del
g.(32699101_32809584)_(33339376_?)del
del ex01-07; c.-244_(649+1_650-1)del
-
DMD_010007
-
PubMed: Tomar 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
Poh San Lai
+/.
4
_1_7i
c.-244_(649+1_650-1){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32717411_32827609)_(33229673_?)del
g.(32699294_32809492)_(33211556_?)del
-
-
DMD_058007
-
PubMed: Mital , PubMed: Flanigan 2009 , PubMed: Gilgenkrantz
-
-
Germline
-
-
-
-
-
Mayana Zatz , Johan den Dunnen , Kevin Flanigan
+/.
1
0i_8i
c.-244(_-182)_(831+11_859){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32716088_32717218)_(33229611_33357493)del
g.(32697971_32699101)_(33211494_33339376)del
c.-244_(831+1_832-1)del
-
DMD_010108
-
PubMed: Tuffery-Giraud 2009 , UMD 2415 database
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
_0_9i
c.-244_(859_988){0}
r.?
p.(fs*)
-
pathogenic (recessive)
g.(32663242_32716088)_(33357493_?)del
g.(32645125_32697971)_(33339376_?)del
del ex01-09; c.-244_(960+1_961-1)del
-
DMD_010009
-
PubMed: Tomar 2019
-
-
Germline/De novo (untested)
-
-
-
-
-
Poh San Lai
+/.
1
0i_11i
c.-244(_-182)_(1175_1403){2}
r.?
p.?
-
pathogenic (recessive)
g.(32632499_32662405)_(33229611_33357493)dup
g.(32614382_32644288)_(33211494_33339376)dup
c.-244_(1331+1_1332-1)dup
-
DMD_020111
-
PubMed: Zeng 2007
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
_1_12i
c.(?_-182)_(1403_1602)del
r.?
p.?
-
pathogenic (recessive)
g.(32613874_32632499)_(33229611_?)del
g.(32595757_32614382)_(33211494_?)del
del ex1-12
-
DMD_018012
-
PubMed: Ma 2018 , Journal: Ma 2018
-
-
Germline/De novo (untested)
-
1/1042 cases
-
-
-
Shiwen Wu
+/.
1
0i_12i
c.-244(_-182)_(1403_1602){0}
r.0?
p.0?
-
pathogenic (recessive)
g.(32613874_32632499)_(33229611_33357493)del
g.(32595757_32614382)_(33211494_33339376)del
c.-244_(1482+1_1483-1)del
-
DMD_010112
-
Jorge ESHG2006 P1191, PubMed: Santos 2014
-
-
Germline
-
-
-
-
-
Rosário dos Santos