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
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%)
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
+/.
1
0i_1i
c.(-128065_-15986)_(31+1_32-1)del
r.?
p.?
-
pathogenic (recessive)
g.(33038290_33122034)_(33245415_33357494)del
-
-
-
DMD_068359
-
PubMed: Shastry 2021
-
-
De novo
-
-
-
-
-
Johan den Dunnen
+/.
3
0i_79_
c.(-128065_-183)_(*1523_?)del
r.0?, r.?
p.(fs*), p.0?
-
pathogenic (recessive)
g.(?_31138513)_(33229612_33357494)del
g.(?_31120396)_(33211495_33339377)del
del ex1-79; c.(-127947_-245)_*2691del, ex1ex79del, c.-244_*2691delÂ
-
DMD_010179
-
PubMed: Ling 2020 , Journal: Ling 2020 , PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Chao Ling , Carmela Scuderi
+/.
6
0i_1i
c.(-128065_-183)_(-183_58)del
r.?
p.?
-
pathogenic (recessive)
g.(33038291_33229612)_(33229612_33357494)del
g.(33020174_33211495)_(33211495_33339377)del
del ex1, ex1del, c.(?_-244)_31+?del, ex1del, c.-244_31+?del, ex1del, c.1-?_31+?del
-
DMD_010101
-
PubMed: Guo 2015 , PubMed: Neri 2020 , Journal: Neri 2020 , PubMed: Toksoy 2019
-
-
Germline, Germline/De novo (untested)
-
1/260 cases, 1/613 cases
-
-
-
Johan den Dunnen , Güven Toksoy , Lorena Travaglini , Vincenzo Nigro , Emiliano Giardina
+/.
1
0i_1i
c.(-128065_-183)_(-183_58)dup
r.?
p.?
-
pathogenic (recessive)
g.(33038291_33229612)_(33229612_33357494)dup
g.(33020174_33211495)_(33211495_33339377)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_1i
c.(-128065_-183)_(-183_59)del
r.?
p.(fs*)
-
pathogenic (recessive)
g.(33038291_33229612)_(33229612_33357494)del
g.(33020174_33211495)_(33211495_33339377)del
del ex1; c.(-127947_-245)_(31+1_32-1)del
-
DMD_046507
-
PubMed: Ling 2020 , Journal: Ling 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Chao Ling
+/.
1
0i_12i
c.(-128065_-183)_(1384_1601)del
r.?
p.(fs*)
-
pathogenic (recessive)
g.(32613875_32632518)_(33229612_33357494)del
g.(32595758_32614401)_(33211495_33339377)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.(-128065_-183)_(1601_1603-8)del
r.?
p.0?
-
pathogenic (recessive)
g.(32591971_32613875)_(33229612_33357494)del
g.(32573854_32595758)_(33211495_33339377)del
del ex1-13
-
DMD_010113
-
PubMed: Luce 2016 , Journal: Luce 2016
-
-
Germline/De novo (untested)
-
-
-
-
-
Florencia Giliberto
+/.
1
0i_16i
c.(-128065_-183)_(1851_2084)del
r.?
p.(fs*)
-
pathogenic (recessive)
g.(32563360_32583960)_(33229612_33357494)del
g.(32545243_32565843)_(33211495_33339377)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.(-128065_-183)_(2225_2293-10)del
r.?
p.0?
-
pathogenic (recessive)
g.(32519969_32536192)_(33229612_33357494)del
g.(32501852_32518075)_(33211495_33339377)del
del ex1-18
-
DMD_010118
-
PubMed: Zimowski 2014
-
-
Germline
-
1/180 patients
-
-
-
Johan den Dunnen
+/.
1
0i_6i
c.(-128065_-183)_(410_557)del
r.0?
p.0?
-
pathogenic (recessive)
g.(32827702_32834705)_(33229612_33357494)del
g.(32809585_32816588)_(33211495_33339377)del
delDp427m-ex6
-
DMD_010106
-
PubMed: Tyers 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
3
0i_2i
c.(-128065_-183)_(58_127)del
r.0?, r.?
p.(fs*), p.0?, p.?
-
pathogenic (recessive)
g.(32867904_33038291)_(33229612_33357494)del
g.(32849787_33020174)_(33211495_33339377)del
del ex01ex02, c.-244-?_93+?del, del ex1-2, del ex1-2; c.(-127947_-245)_(93+1_94-1)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 , Alessandra Ferlini , Chao Ling
+/., +?/.
3
0i_2i
c.(-128065_-183)_(58_127)dup
r.?
p.?
-
likely pathogenic (recessive), pathogenic (recessive)
g.(32867904_33038291)_(33229612_33357494)dup
g.(32849787_33020174)_(33211495_33339377)dup
dup ex1-2, ex1ex2dup, c.-244_93+?dup
-
DMD_020102
-
PubMed: Kohli 2020 , PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma , Vincenzo Nigro
+/.
1
0i_43i
c.(-128065_-183)_(6195_6381)del
r.?
p.?
-
pathogenic (recessive)
g.(32235090_32305741)_(33229612_33357494)del
g.(32216973_32287624)_(33211495_33339377)del
del ex1-43
-
DMD_010143
-
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen
+/.
4
0i_44i
c.(-128065_-183)_(6381_6537)del
r.0?, r.?
p.(fs*), p.0?, p.?
-
pathogenic (recessive)
g.(31986533_32235090)_(33229612_33357494)del
g.(31968416_32216973)_(33211495_33339377)del
del ex1-44, ex1ex44del, c.-244_6438+?del , ex1ex44del, c.1-?_6438+?del
-
DMD_010144
-
PubMed: Neri 2020 , Journal: Neri 2020 , PubMed: Zhang 2019
-
-
Germline, Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen , B. Augello , Lorena Travaglini , Carmela Scuderi
+/.
1
0i_47i
c.(-128065_-183)_(6809_7017)del
r.?
p.?
-
pathogenic (recessive)
g.(31893386_31947816)_(33229612_33357494)del
g.(31875269_31929699)_(33211495_33339377)del
del ex1-47
-
DMD_010147
-
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen
+/.
1
0i_48i
c.(-128065_-183)_(7017_7099-11)del
r.?
p.(fs*)
-
pathogenic (recessive)
g.(31854947_31893386)_(33229612_33357494)del
g.(31836830_31875269)_(33211495_33339377)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
./.
1
0i_55i
c.(-128065_-183)_(8068_8390+10)del
r.?
p.?
-
pathogenic (recessive)
g.(31525388_31645939)_(33229612_33357494)del
g.(31507271_31627822)_(33211495_33339377)del
del ex1-55
-
DMD_010055
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
Shubha R Phadke
+/.
1
0i_9i
c.(-128065_-183)_(858_987)del
r.?
p.(fs*)
-
pathogenic (recessive)
g.(32663243_32716089)_(33229612_33357494)del
g.(32645126_32697972)_(33211495_33339377)del
del ex1-9; c.(-127947_-245)_(960+1_961-1)del
-
DMD_010109
-
PubMed: Ling 2020 , Journal: Ling 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Chao Ling
+/.
2
0i_60i
c.(-128065_-183)_(8967_9117)del
r.?
p.?
-
pathogenic (recessive)
g.(31366719_31462715)_(33229612_33357494)del
g.(31348602_31444598)_(33211495_33339377)del
del ex1-60, ex1ex60del, c.1-?_9084+?del
-
DMD_010160
-
PubMed: Neri 2020 , Journal: Neri 2020 , PubMed: Zhang 2019
-
-
Germline, Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen , Lorena Travaglini
+/.
1
0i_62i
c.(-128065_-183)_(9186_9245)del
r.?
p.?
-
pathogenic (recessive)
g.(31279113_31341753)_(33229612_33357494)del
g.(31260996_31323636)_(33211495_33339377)del
del ex1m-62
-
DMD_010162
-
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen
+/.
1
1i_79
c.(-183_58)_(*1524_?)del
r.?
p.?
-
pathogenic (recessive)
g.(?_31138513)_(33038291_33229612)del
g.(?_31120396)_(33020174_33211495)del
del ex2-79
-
DMD_010279
-
PubMed: Ozkalayci 2024 , Journal: Ozkalayci 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
_0_2i
c.(-210025_-210075)_(93+17277_93+17327)dup
r.?
p.?
-
likely pathogenic (recessive)
g.(33020929_33020979)_(33439454_33439504)dup
g.?
dup ex1-2
-
DMD_038030
418,5kb duplication
PubMed: Nallamilli 2021 , Journal: Nallamilli 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Madhuri Hegde
+/.
1
74i_78i
c.(10485_10677)_(11046+43_*1523)dup
r.?
p.?
-
pathogenic (recessive)
g.(31138513_31144716)_(31165512_31187628)dup
g.(31120396_31126599)_(31147395_31169511)dup
dup ex75-78
-
DMD_027578
-
PubMed: Ge 2024
-
-
De novo
-
-
-
-
-
Johan den Dunnen
+/.
1
77i_79
c.(10956_11046+43)_(*1524_?)del
r.(?)
p.(del)
-
pathogenic (recessive)
g.(?_31138513)_(31144716_31152277)del
g.(?_31120396)_(31126599_31134160)del
del ex78-79
-
DMD_017879
-
PubMed: Riguzzi 2025 , Journal: Riguzzi 2025
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
77i_78i
c.(10956_11046+43)_(11046+43_*1523)del
r.(del)
p.(del)
-
pathogenic (recessive)
g.(31138513_31144716)_(31144716_31152277)del
g.(31120396_31126599)_(31126599_31134160)del
del ex78
-
DMD_017878
-
PubMed: Gorgoglione 2025
-
-
Germline/De novo (untested)
-
1/943 BMD cases
-
-
-
Johan den Dunnen
+/.
1
3i_79_
c.(128_228)_(*2691_?)del
r.?
p.?
-
pathogenic (recessive)
g.(?_31137345)_(32862937_32867903)del
g.(?_31119228)_(32844820_32849786)del
del ex4-79
-
DMD_010479
-
PubMed: Megarbane 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
?/.
1
44i_50i
c.(6381_6537)_(7309+13_7422){2}
r.?
p.?
-
VUS (!)
g.(120900001_138000000)ins(31792197_31838079)_(31986533_32235090)
g.(121800001_138900000)ins(31774080_31819962)_(31968416_32216973)
dup ex45-50
arr[GRCh37] Xp21.1(31,840,701-32,106,875)x3, Xq26.3(136,510,620-137,027,604)x3
DMD_069030
253 kb gain at Xp21.1; FISH shows extra copy inserted at Xq25-26, no effect on DMD gene
Ginjaar 2024, submitted
-
-
Germline
-
-
-
-
-
Hermine van Duyvenvoorde
+/.
2
44i_52i
c.(6438+1_6439-1)_(7660+1_7661-1)del
r.?
p.?
-
pathogenic (recessive)
g.(31697577_31728909)_(32130344_32235089)del
-
c.(6438+1_6439-1)_ 7660+1_7661-1) del
-
DMD_054552
-
PubMed: Aravind 2019 , PubMed: Shastry 2021
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
44i_53_
c.(6438+1_6439-1)_(7872+1_8938-1)del
r.?
p.?
-
pathogenic (recessive)
g.(31462745_31697491)_(31986632_32235032)del
g.(31444628_31679374)_(31968515_32216915)del
del ex45-(53-69)
-
DMD_040098
-
PubMed: Sarker 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
45i_53_
c.(6614+1_6615-1)_(7872+1_8938-1)del
r.?
p.?
-
pathogenic (recessive)
g.(31462745_31697491)_(31950345_31986455)del
g.(31444628_31679374)_(31932228_31968338)del
del ex46-(53-59)
-
DMD_068753
-
PubMed: Sarker 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
2
45i_79_
c.(6614+2302_6614+2352)_(*103081_*103131)del
r.?
p.?
-
pathogenic (recessive)
g.(31036905_31036955)_(31984104_31984154)del
g.?
del ex46-79
-
DMD_038306, DMD_038307
947,1kb deletion
PubMed: Nallamilli 2021 , Journal: Nallamilli 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Madhuri Hegde
+/.
1
47i_79
c.(6809_7017)_(*1524_?)del
r.?
p.?
-
pathogenic (recessive)
g.(?_31138513)_(31893386_31947816)del
g.(?_31120396)_(31875269_31929699)del
del ex48-79
-
DMD_014879
-
PubMed: Sawahreh 2025 , Journal: Sawahreh 2025
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1
47i_52i
c.(6912+1_6913-1)_()del
r.?
p.?
-
pathogenic (recessive)
g.(31697577_31743342)_(31944322_31947815)del
-
-
-
DMD_068350
-
PubMed: Shastry 2021
-
-
De novo
-
-
-
-
-
Johan den Dunnen
+/.
1
51i_53_
c.(7542+1_7543-1)_(7872+1_8938-1)del
r.?
p.?
-
pathogenic (recessive)
g.(31462745_31697491)_(31747866_31792076)del
g.(31444628_31679374)_(31729749_31773959)del
del ex52-(53-59)
-
DMD_068752
-
PubMed: Sarker 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
2
55i_79
c.(8068_8390+10)_(*1524_?)del
r.?
p.?
-
pathogenic (recessive)
g.(?_31138513)_(31525388_31645939)del
g.(?_31120396)_(31507271_31627822)del
del ex56-79
-
DMD_015679
-
PubMed: Luce 2024 , PubMed: Sagi-Dain 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen , Florencia Giliberto
+/.
2
55i_78i
c.(8068_8390+10)_(11046+43_*1523)dup
r.(dup)
p.(dup)
-
pathogenic (recessive)
g.(31138513_31144716)_(31525388_31645939)dup
g.(31120396_31126599)_(31507271_31627822)dup
dup ex56-78
-
DMD_025678
-
PubMed: Gorgoglione 2025
-
-
Germline/De novo (untested)
-
2/943 BMD cases
-
-
-
Johan den Dunnen
-?/.
1
60i_79_
c.(8967_9117)_(*1523_*746890)dup
r.?
p.?
-
likely benign
g.(30393146_31138513)_(31366719_31462715)dup
g.(30375029_31120396)_(31348602_31444598)dup
dup ex61-79
arr[hg19] Xp21.1.2 (30,393,146-31,429,432)
DMD_069026
1 more item
Ginjaar 2024, submitted
-
-
Germline
-
-
-
-
-
Hermine van Duyvenvoorde
-?/.
1
60i_79_
c.(8967_9117)_(*1523_*85039)dup
r.?
p.?
-
likely benign
g.(31054997_31138513)_(31366719_31462715)dup
g.(31036880_31120396)_(31348602_31444598)dup
dup ex61-79 to FTHL17
arr[hg19] Xp21.2(31,054,997-31,405,896)x3
DMD_069026
1 more item
Ginjaar 2024, submitted
-
-
Germline
-
-
-
-
-
Hermine van Duyvenvoorde
+/.
1
60i_79
c.(8967_9117)_(*1524_?)del
r.?
p.?
-
pathogenic (recessive)
g.(?_31138513)_(31366719_31462715)del
g.(?_31120396)_(31348602_31444598)del
del ex61-79
-
DMD_016179
-
PubMed: Ozkalayci 2024 , Journal: Ozkalayci 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
60i_79
c.(8967_9117)_(*1524_?)dup
r.?
p.?
-
pathogenic (recessive)
g.(?_31138513)_(31366719_31462715)dup
g.(?_31120396)_(31348602_31444598)dup
dup ex61-79
-
DMD_026179
-
PubMed: Ozkalayci 2024 , Journal: Ozkalayci 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
62i_79_
c.(9186_9245)_(*1523_*279710)dup
-
-
-
pathogenic (recessive)
g.(30860326_31138513)_(31279113_31341753)dup
g.(30842209_31120396)_(31260996_31323636)dup
dup ex45-54 and 63-79
arr[NCBI 36] Xp21.1(31,571,710-32,113,942)x3, Xp21.2 (30,770,247-31,571,710)x3 (hg 18)
DMD_069025
1 more item
Ginjaar 2024, submitted
-
-
De novo
-
-
-
-
normal X-inactivation pattern
Hermine van Duyvenvoorde
+/.
1
62i_79
c.(9186_9245)_(*1524_?)dup
r.?
p.?
-
pathogenic (recessive)
g.(?_31138513)_(31279113_31341753)dup
g.(?_31120396)_(31260996_31323636)dup
dup ex63-79
-
DMD_026379
-
PubMed: Sawahreh 2025 , Journal: Sawahreh 2025
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
9i_79_
c.(960+17577_960+17627)_(*2926_*2976)del
r.?
p.?
-
pathogenic (recessive)
g.(31137060_31137110)_(32698360_32698410)del
g.(32680243_32680293)_(31118943_31118993)del
del ex10-79
-
DMD_038119
1561,3kb deletion
PubMed: Nallamilli 2021 , Journal: Nallamilli 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Madhuri Hegde
+/.
2
10i_11i
c.(987_1174)_(1174_13834)del
r.?
p.(fs)
-
pathogenic (recessive)
g.(32632518_32662406)_(32662406_32663243)del
g.(32614401_32644289)_(32644289_32645126)del
del ex11-11
-
DMD_011111
-
PubMed: Verma 2012 , Journal: Verma 2012
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
_0_79
c.(?_-128065)_(*1524_?)del
r.0?
p.0?
-
pathogenic (recessive)
g.(?_31138513)_(33357494_?)del
g.(?_31120396)_(33339377_?)del
del ex1-79
-
DMD_010079
-
PubMed: Vieitez 2017
-
-
Germline/De novo (untested)
-
1/284 cases
-
-
-
Johan den Dunnen
+/., ./.
6
_0_1i
c.(?_-128065)_(-183_58)del
r.?
p.(fs*), p.0?, p.?
-
pathogenic (recessive)
g.(33038290_33357494)_(33357494_?)del, g.(33038291_33229612)_(33357494_?)del
g.(33020173_33339377)_(33339377_?)del, g.(33020174_33211495)_(33339377_?)del
del Dp427c-ex1, del Dp427c-ex1; c.-244_(31+1_32-1)del, del Dp427c/ex1, c.(?_-128297)_31+?del, 1 more item
-
DMD_010001
-
PubMed: Ling 2020 , Journal: Ling 2020 , PubMed: Rasic 2015 , PubMed: Yun 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen , Chao Ling , Shubha R Phadke
+/., -?/., ?/.
8
_0_1i
c.(?_-128065)_(-183_58)dup
r.(?), r.(del), r.?
p.(?), p.(del), p.?
-
likely benign, pathogenic (recessive), VUS (!)
g.(33038291_33229612)_(33357494_?)dup
g.(33020174_33211495)_(33339377_?)dup
dup Dp427c-ex1, dup ex1, dup ex1c-1, dup exDp427c-1 and dup ex45-49
-
DMD_020001
detected additional copy in healthy female (location copy unknown), 1 more item
PubMed: Cohen 2022 , PubMed: Guo 2015 , PubMed: Mori-Yoshimura 2018 , PubMed: Singer 2023
-
-
Germline, Germline/De novo (untested)
-
1/613 cases, 1/85,737 healthy females
-
-
-
Johan den Dunnen
+/.
1
_0_1i
c.(?_-128065)_(-18del2_59)del
r.?
p.?
-
pathogenic (recessive)
g.(33038291_33229612)_(33357494_?)del
g.(33020174_33211495)_(33339377_?)del
del exDp427c-1
-
DMD_010001
-
PubMed: Guo 2015
-
-
Germline/De novo (untested)
-
1/613 cases
-
-
-
Johan den Dunnen
+/.
2
_0_3i
c.(?_-128065)_(127_227)del
r.?
p.?
-
pathogenic (recessive)
g.(32862937_32867904)_(33357494_?)del
g.(32844820_32849787)_(33339377_?)del
del ex0-3
-
DMD_010003
-
PubMed: Kekou 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
?/.
1
_0_12i
c.(?_-128065)_(1384_1601)dup
r.(?)
p.(?)
-
VUS (!)
g.(32613875_32632518)_(33357494_?)dup
g.(32595758_32614401)_(33339377_?)dup
dup ex1c-12
-
DMD_020012
detected additional copy in healthy female (location copy unknown)
PubMed: Singer 2023
-
-
Germline
-
1/85,737 healthy females
-
-
-
Johan den Dunnen
./.
1
_0_17i
c.(?_-128065)_(2085_2226)del
r.?
p.?
-
pathogenic (recessive)
g.(32536191_32563359)_(33357494_?)del
g.(32518074_32545242)_(33339377_?)del
del exDp427c-17
-
DMD_010017
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
Shubha R Phadke
+/.
1
_0_29i
c.(?_-128065)_(3991_4194)del
r.?
p.?
-
pathogenic (recessive)
g.(32429908_32456438)_(33357494_?)del
g.(32411791_32438321)_(33339377_?)del
del exDp427c-29; c.-128297_4071+?del
-
DMD_010029
-
PubMed: Guevara-Fujita 2021 , Journal: Guevara-Fujita 2021
-
-
Germline
-
1/152 cases
-
-
-
Maria Luisa Guevara Gil
+/.
1
_0_39i
c.(?_-128065)_(5449-4_5587-23)del
r.?
p.(fs*)
-
pathogenic (recessive)
g.(32361426_32364201)_(33357494_?)del
g.(32343309_32346084)_(33339377_?)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_7i
c.(?_-128065)_(557_831+10)dup
r.(?)
p.(?)
-
VUS (!)
g.(32717219_32827702)_(33357494_?)dup
g.(32699102_32809585)_(33339377_?)dup
dup ex1c-7
-
DMD_020007
detected additional copy in healthy female (location copy unknown)
PubMed: Singer 2023
-
-
Germline
-
2/85,737 healthy females
-
-
-
Johan den Dunnen
+/.
5
_0_2i
c.(?_-128065)_(59_128)del
r.?
p.(fs*), p.0?, p.?
-
pathogenic (recessive)
g.(32867903_33038290)_(33357494_?)del
g.(32849786_33020173)_(33339377_?)del
del Dp427c-ex2; c.-244_(93+1_94-1)del, del ex Dp427c-2; c.-128297_93+?del, del ex1-2 c.1_93del, 2 more items
-
DMD_010002
-
PubMed: Guevara-Fujita 2021 , Journal: Guevara-Fujita 2021 , PubMed: Guo 2015 , 2 more items
-
-
Germline, Germline/De novo (untested)
-
1/152 cases, 1/613 cases
-
-
-
Johan den Dunnen , Chao Ling , Maria Luisa Guevara Gil
+/.
1
_0_43i
c.(?_-128065)_(6196_6382)del
r.?
p.0?
-
pathogenic (recessive)
g.(32235089_32305740)_(33357494_?)del
g.(32216972_32287623)_(33339377_?)del
del ex1-43 c.1_6290del
-
DMD_010043
-
PubMed: Triana-Fonseca 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
3
_0_44i
c.(?_-128065)_(6382_6538)del
r.?
p.(fs*), p.?
-
pathogenic (recessive)
g.(31986532_32235089)_(33357494_?)del
g.(31968415_32216972)_(33339377_?)del
del Dp427c-ex44; c.-244_(6438+1_6439-1)del, del exDp427c-44, del exDp427c-44; c.-128297_6438+?)del
-
DMD_010044
-
PubMed: Guevara-Fujita 2021 , Journal: Guevara-Fujita 2021 , PubMed: Guo 2015 , 1 more item
-
-
Germline, Germline/De novo (untested)
-
1/152 cases, 1/613 cases
-
-
-
Johan den Dunnen , Chao Ling , Maria Luisa Guevara Gil
+/.
1
_0_47i
c.(?_-128065)_(6810_7018)del
r.0?
p.0?
-
pathogenic (recessive)
g.(31893385_31947815)_(33357494_?)del
g.(31875268_31929698)_(33339377_?)del
Dp427cex47del, (c.-244_6912+?del)
-
DMD_010047
-
PubMed: Neri 2020 , Journal: Neri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Milena Cau
+/.
1
_0_51i
c.(?_-128065)_(7423_7629)del
r.?
p.?
-
pathogenic (recessive)
g.(31747779_31792196)_(33357494_?)del
g.(31729662_31774079)_(33339377_?)del
del Dp427c-ex51
-
DMD_010051
-
PubMed: Yun 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
_0_60i
c.(?_-128065)_(8967_9117)del
r.?
p.0?
-
pathogenic (recessive)
g.(31366719_31462715)_(33357494_?)del
g.(31348602_31444598)_(33339377_?)del
del ex1-60
-
DMD_010060
-
PubMed: Patel 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
./.
1
_0_0i
c.(?_-128065)_(?_-128065)(_-183)del
r.?
p.?
-
VUS (!)
g.(33229611_33357494)_(33357494_?)del
g.(33211495_33339377)_(33339377_?)del
del ex14 & Dp427c
-
DMD_038446
non-contiguous deletion DP427c and 14
-
-
-
Germline/De novo (untested)
-
-
-
-
-
Shubha R Phadke
+/.
2
_0_0i
c.(?_-128065)_(?_-183)del
r.?
p.?
-
pathogenic (recessive)
g.(33229612_33357494)_(33357494_?)del
g.(33211495_33339377)_(33339377_?)del
del P-brain
-
DMD_010000
-
PubMed: Kekou 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
-?/.
58
_0_0i
c.(?_-128065)_(?_-183)dup
r.(=)
p.(=)
-
likely benign
g.(33229612_33357494)_(33357494_?)dup
g.(33211495_33339377)_(33339377_?)dup
dup ex1c
-
DMD_020080
detected additional copy in healthy female (location copy unknown)
PubMed: Singer 2023
-
-
Germline
-
58/85,737 healthy females
-
-
-
Johan den Dunnen
+/.
1
_0_79_
c.(?_-128065)_*2691del
r.0
p.0
-
pathogenic (recessive)
g.(?_31137345)_(33357494_?)del
g.(?_31119228)_(33339377_?)del
del gene
-
DMD_010080
-
PubMed: Tyers 2018
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
?/.
1
_0_79_
c.(?_-128065)_*2691dup
r.(?)
p.(?)
-
VUS (!)
g.(?_31137345)_(33357494_?)dup
g.(?_31119228)_(33339377_?)dup
dup ex1c-79
-
DMD_020079
detected additional copy in healthy female (location copy unknown)
PubMed: Singer 2023
-
-
Germline
-
1/85,737 healthy females
-
-
-
Johan den Dunnen
+/.
2
_0_7i
c.(?_-128297)_(649+1_650-1)dup
r.?
p.?
-
pathogenic (recessive)
g.(32717411_32827609)_(33357726_?)dup
g.(32699294_32809492)_(33339609_?)dup
dup ex1-7
-
DMD_060107
-
PubMed: Xiao 2021
-
-
Germline/De novo (untested)
-
1/10486 cases NICU
-
-
-
Johan den Dunnen
+/.
1
_0_2i
c.(?_-128297)_(93+1_94-1)dup
r.?
p.?
-
pathogenic (recessive)
g.(32867938_33038255)_(33357726_?)dup
g.(32849821_33020138)_(33339609_?)dup
dup ex1-2
-
DMD_068358
-
PubMed: Xiao 2021
-
-
Germline/De novo (untested)
-
1/10486 cases NICU
-
-
-
Johan den Dunnen
+/.
2
_1_79
c.(?_-183)_(*1524_?)del
r.?
p.?
-
pathogenic (recessive)
g.(?_31138513)_(33229612_33357494)del, g.(?_31138513)_(33229612_?)del
g.(?_31120396)_(33211495_33339377)del, g.(?_31120396)_(33211495_?)del
del ex1-79
-
DMD_010179, DMD_018079
-
PubMed: Ozkalayci 2024 , Journal: Ozkalayci 2024 , PubMed: Yamputchong 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
_1_17_
c.(?_-244)_(2168+1_2169-1)del
r.?
p.?
-
pathogenic (recessive)
g.(32536249_32563275)_(33229673_?)del
g.(32518132_32545158)_(33211556_?)del
del ex(0-1)-(17-18)
-
DMD_058017
-
PubMed: Sarker 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
_1_
c.(?_-244)_(31+1_94-1)del
r.?
p.?
-
pathogenic (recessive)
g.(32867938_33229398)_(33229673_?)del
g.(33211556_?)_(32849821_33211281)del
mPCR del ex1
-
DMD_068580
-
PubMed: El Kadiri 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
?/.
1
79
c.*109C>T
r.(?)
p.?
-
VUS
g.31139927G>A
g.31121810G>A
-
-
DMD_069093
-
gnomAD
-
rs747862290
Germline
-
10/203799 chromosomes
-
-
-
Johan den Dunnen
?/.
1
79
c.*128_*131del
r.(?)
p.?
-
VUS
g.31139907_31139910del
g.31121790_31121793del
-
-
DMD_069092
-
gnomAD
-
rs75075462
Germline
-
3/179231 chromosomes
-
-
-
Johan den Dunnen
?/.
1
79
c.*136C>A
r.(?)
p.?
-
VUS
g.31139900G>T
g.31121783G>T
-
-
DMD_069091
-
gnomAD
-
rs372759340
Germline
-
3/178045 chromosomes
-
-
-
Johan den Dunnen
?/.
1
79
c.*153_*156del
r.(?)
p.?
-
VUS
g.31139882_31139885del
g.31121765_31121768del
-
-
DMD_069090
-
gnomAD
-
rs1053082197
Germline
-
3/21865 chromosomes
-
-
-
Johan den Dunnen
-?/.
1
79
c.*15A>G
r.(?)
p.?
-
likely benign
g.31140021T>C
g.31121904T>C
NM_004023.2:c.3331A>G (Met1111Val)
-
DMD_004411
-
gnomAD
-
rs149405184
Germline
-
5/204536 chromosomes
-
-
-
Johan den Dunnen
-/.
1
40i
c.*18G>A
r.(?)
p.?
-
benign
g.31140018C>T
g.31121901C>T
-
-
DMD_069097
-
gnomAD
-
rs773296423
Germline
-
18/95117 chromosomes
-
-
-
Johan den Dunnen
?/.
1
79
c.*23_*35del
r.(?)
p.?
-
VUS
g.31140007_31140019del
g.31121890_31121902del
NM_004023.2:c.3339_3351del (Asp1113GlufsTer6)
-
DMD_000960
-
gnomAD
-
rs752332058
Germline
-
51/204738 chromosomes
-
-
-
Johan den Dunnen
?/.
1
79
c.*24G>A
r.(?)
p.?
-
VUS
g.31140012C>T
g.31121895C>T
NM_004023.2:c.3340G>A (Asp1114Asn)
-
DMD_046439
-
gnomAD
-
rs372284841
Germline
-
4/182562 chromosomes
-
-
-
Johan den Dunnen
-/.
1
79
c.*38G>A
r.(?)
p.?
-
benign
g.31139998C>T
g.31121881C>T
NM_004023.2:c.3354G>A (Ala1118=)
-
DMD_000440
-
gnomAD
-
rs16989352
Germline
-
641/204711 chromosomes
-
-
-
Johan den Dunnen
-?/.
1
79
c.*39A>T
r.(?)
p.?
-
likely benign
g.31139997T>A
g.31121880T>A
NM_004023.2:c.3355A>T (Met1119Leu)
-
DMD_069096
-
gnomAD
-
rs371730838
Germline
-
6/182697 chromosomes
-
-
-
Johan den Dunnen
?/.
1
79
c.*41G>A
r.(?)
p.?
-
VUS
g.31139995C>T
g.31121878C>T
NM_004023.21:c.3357G>A (Met1119Ile)
-
DMD_069095
-
gnomAD
-
rs765504838
Germline
-
3/182687 chromosomes
-
-
-
Johan den Dunnen
?/.
1
79
c.*89G>A
r.(?)
p.?
-
VUS
g.31139947C>T
g.31121830C>T
-
-
DMD_069094
-
gnomAD
-
rs770298921
Germline
-
7/182600 chromosomes
-
-
-
Johan den Dunnen
?/.
1
79
c.*9T>C
r.(?)
p.?
-
VUS
g.31140027A>G
g.31121910A>G
NM_004023.2:c.3325T>C (Phe1109Leu)
-
DMD_069098
-
gnomAD
-
rs748870087
Germline
-
4/182259 chromosomes
-
-
-
Johan den Dunnen
+/.
2
0i_79
c.-244(_-183)_(*1524_?)del
r.0?
p.0?
-
pathogenic (recessive)
g.(?_31138513)_(33229612_33357494)del
g.(?_31120396)_(33211495_33339377)del
del ex1-79
-
DMD_010179
-
PubMed: Singer 2023
-
-
Germline
-
2/85,737 healthy females
-
-
-
Johan den Dunnen
+/.
5
0i_1i
c.-244(_-183)_(-183_58)del
r.0?
p.0?
-
pathogenic (recessive)
g.(33038291_33229612)_(33229612_33357494)del
g.(33020174_33211495)_(33211495_33339377)del
del ex1
-
DMD_010101
possible overlap with cases from Ling 2020
PubMed: Tong 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Yi Dai
+/., -?/.
3
0i_1i
c.-244(_-183)_(-183_58)dup
r.?
p.?
-
likely benign, pathogenic (recessive)
g.(33038291_33229612)_(33229612_33357494)dup
g.(33020174_33211495)_(33211495_33339377)dup
del ex1, dup ex1
arr[GRCh37] Xp21.1(33,150,225-33,292,999)x2, arr[GRCh37] Xp21.1(33,158,437-33,293,101)x3
DMD_020101
145 kb gain at Xp21.1; asymptomatic grandfather (61y) carries duplication, 1 more item
Ginjaar 2024, submitted, PubMed: Zamani 2022 , Journal: Zamani 2022
-
-
Germline, Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen , Hermine van Duyvenvoorde
?/.
1
0i_12i
c.-244(_-183)_(1384_1601)dup
r.(?)
p.(?)
-
VUS (!)
g.(32613875_32632518)_(33229612_33357494)dup
g.(32595758_32614401)_(33211495_33339377)dup
dup ex1-12
-
DMD_020112
detected additional copy in healthy female (location copy unknown)
PubMed: Singer 2023
-
-
Germline
-
1/85,737 healthy females
-
-
-
Johan den Dunnen
-?/.
1
0i_15i
c.-244(_-183)_(1766_1851)dup
r.(?)
p.(?)
-
likely benign
g.(32583960_32591693)_(33229612_33357494)dup
g.(32565843_32573576)_(33211495_33339377)dup
dup ex1-15
-
DMD_020115
detected additional copy in healthy female (location copy unknown)
PubMed: Singer 2023
-
-
Germline
-
1/85,737 healthy females
-
-
-
Johan den Dunnen
+/.
2
0i_18i
c.-244(_-183)_(2225_2293-10)del
r.?
p.?
-
pathogenic (recessive)
g.(32519969_32536192)_(33229612_33357494)del
g.(32501852_32518075)_(33211495_33339377)del
del ex1-18
-
DMD_010118
-
PubMed: Jaxybayeva 2023 , PubMed: Kekou 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
0i_6i
c.-244(_-183)_(410_557)del
r.?
p.?
-
pathogenic (recessive)
g.(32827702_32834705)_(33229612_33357494)del
g.(32809585_32816588)_(33211495_33339377)del
del ex1-6
-
DMD_010106
-
PubMed: Kekou 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
?/.
3
0i_7i
c.-244(_-183)_(557_831+10)dup
r.(?)
p.(?)
-
VUS (!)
g.(32717219_32827702)_(33229612_33357494)dup
g.(32699102_32809585)_(33211495_33339377)dup
dup ex1-7
-
DMD_020107
detected additional copy in healthy female (location copy unknown)
PubMed: Singer 2023
-
-
Germline
-
3/85,737 healthy females
-
-
-
Johan den Dunnen
+/.
1
0i_2i
c.-244(_-183)_(58_127)del
r.0?
p.0?
-
pathogenic (recessive)
g.(32867904_33038291)_(33229612_33357494)del
g.(32849787_33020174)_(33211495_33339377)del
del ex1-2
-
DMD_010102
-
PubMed: Singer 2023
-
-
Germline
-
1/85,737 healthy females
-
-
-
Johan den Dunnen
?/.
2
0i_2i
c.-244(_-183)_(58_127)dup
r.(?)
p.(?)
-
VUS (!)
g.(32867904_33038291)_(33229612_33357494)dup
g.(32849787_33020174)_(33211495_33339377)dup
dup ex1-2
-
DMD_020102
detected additional copy in healthy female (location copy unknown)
PubMed: Singer 2023
-
-
Germline
-
2/85,737 healthy females
-
-
-
Johan den Dunnen
+/.
1
0i_48i
c.-244(_-183)_(7017_7099-11)del
r.?
p.?
-
pathogenic (recessive)
g.(31854947_31893386)_(33229612_33357494)del
g.(31836830_31875269)_(33211495_33339377)del
del ex1-48
-
DMD_010148
possible overlap with cases from Ling 2020
PubMed: Tong 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Yi Dai
+/.
1
0i_9i
c.-244(_-183)_(858_987)del
r.?
p.?
-
pathogenic (recessive)
g.(32663243_32716089)_(33229612_33357494)del
g.(32645126_32697972)_(33211495_33339377)del
del ex1-9
-
DMD_010109
possible overlap with cases from Ling 2020
PubMed: Tong 2020
-
-
Germline/De novo (untested)
-
-
-
-
-
Yi Dai
+/.
1
0i_62i
c.-244(_-183)_(9186_9245)del
r.?
p.?
-
pathogenic (recessive)
g.(31279113_31341753)_(33229612_33357494)del
g.(31260996_31323636)_(33211495_33339377)del
del ex1-62
-
DMD_010162
-
PubMed: Jaxybayeva 2023
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
./.
1
0i_2i
c.-244_(59_128){0}
r.?
p.?
-
pathogenic (recessive)
g.(32867903_33038290)_(33357494_?)del
g.(32849786_33020173)_(33339377_?)del
del ex1-2
-
DMD_010002
-
-
-
-
Germline/De novo (untested)
-
-
-
-
-
Shubha R Phadke
+/.
2
_0_79_
c.-244_*2691{0}
r.0?
p.?
-
pathogenic (recessive)
g.(30858832_30858882)_(35229274_35229324)del
g.?
del ex1-79
-
DMD_038031, DMD_038032
4370,4kb deletion
PubMed: Nallamilli 2021 , Journal: Nallamilli 2021
-
-
Germline/De novo (untested)
-
-
-
-
-
Madhuri Hegde
?/.
1
5
c.336_337deinsTT
r.spl?
p.(Trp112_Asn113delinsCysTyr)
-
VUS
g.32841432_32841433delinsAA
g.32823315_32823316delinsAA
[336G>T;337A>T]
-
DMD_069068
variant might affect splicing (imbalance ESE/ESS ratio)
PubMed: Neuhoff 2024
-
-
Germline/De novo (untested)
-
-
-
-
-
Johan den Dunnen
+/.
1
0i_7i
c.?_(650-20770_650-20613)del
r.0?
p.0?
-
pathogenic (recessive)
g.(32738023_32738180)_(33334020_33334224)del
-
hg18 (32647944_32648101)_(33243941_33244145)del
-
DMD_040264
-
PubMed: Oshima 2009
-
-
Germline
-
-
-
-
-
Johan den Dunnen