Full data view for gene DMD

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
NOTE: for MLPA-detected deletion/duplication variants we use a probe-based HGVS description, for the exon-based description check the "Published as" column.
Information The variants shown are described using the NM_004006.2 transcript reference sequence.

41848 entries on 419 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 0i_1i c.(-128065_-15986)_(31+1_32-1)del r.? p.? Unknown - pathogenic (recessive) g.(33038290_33122034)_(33245415_33357494)del - - - DMD_068359 - PubMed: Shastry 2021 - - De novo - - - - - DNA MLPA, SEQ, SEQ-NG - DMD custom capture DMD FM10P10(DMD36) PubMed: Shastry 2021 2-generation family, 1 affected, non-carrier mother M - India - - - - - 1 Johan den Dunnen
+/. 0i_79_ c.(-128065_-183)_(*1523_?)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del del ex1-79; c.(-127947_-245)_*2691del - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D174 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_79_ c.(-128065_-183)_(*1523_?)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del del ex1-79; c.(-127947_-245)_*2691del - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D657 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_79_ c.(-128065_-183)_(*1523_?)del r.0? p.0? Unknown - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del ex1ex79del, c.-244_*2691del  - DMD_010179 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - F - Italy - - - - - 1 Carmela Scuderi
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.(?_-244)_31+?del - DMD_010101 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.-244_31+?del - DMD_010101 - - - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - - - F - Italy - - - - - 1 Emiliano Giardina
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.1-?_31+?del - DMD_010101 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD2030 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0100 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 0i_1i c.(-128065_-183)_(-183_58)del r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0148 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 0i_1i c.(-128065_-183)_(-183_58)dup r.? p.? Unknown - 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 - - - DNA MLPA - - DMD MD7297 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_1i c.(-128065_-183)_(-183_59)del r.? p.(fs*) Unknown - 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) - - - - - DNA MLPA - - BMD/DMD D306 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_12i c.(-128065_-183)_(1384_1601)del r.? p.(fs*) Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Dr Silvana Tedeschi
+/. 0i_13i c.(-128065_-183)_(1601_1603-8)del r.? p.0? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD #214 PubMed: Luce 2016, Journal: Luce 2016, PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 0i_16i c.(-128065_-183)_(1851_2084)del r.? p.(fs*) Unknown - 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) - - - - - DNA MLPA - - BMD/DMD D708 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_18i c.(-128065_-183)_(2225_2293-10)del r.? p.0? Maternal (confirmed) - 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 - - - DNA MLPA - - BMD/DMD Pat1298 PubMed: Zimowski 2014 analysis 180 B/DMD families; carrier mother M - Poland - - - - - 1 Johan den Dunnen
+/. 0i_6i c.(-128065_-183)_(410_557)del r.0? p.0? Unknown - 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) - - - - - DNA MLPA, SEQ, RT-PCR - - DMD 151006A PubMed: Tyers 2018 - M - South Africa - - - - - 1 Johan den Dunnen
+/. 0i_2i c.(-128065_-183)_(58_127)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)del g.(32849787_33020174)_(33211495_33339377)del del ex1-2; c.(-127947_-245)_(93+1_94-1)del - DMD_010102 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D417 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_2i c.(-128065_-183)_(58_127)del r.0? p.0? Unknown - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)del g.(32849787_33020174)_(33211495_33339377)del del ex01ex02, c.-244-?_93+?del - DMD_010102 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - PubMed: Neri 2020, Journal: Neri 2020 carrier female F - Italy - - - - - 1 Alessandra Ferlini
+/. 0i_2i c.(-128065_-183)_(58_127)del r.? p.? Unknown - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)del g.(32849787_33020174)_(33211495_33339377)del del ex1-2 - DMD_010102 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD2724 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_2i c.(-128065_-183)_(58_127)dup r.? p.? Unknown - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)dup g.(32849787_33020174)_(33211495_33339377)dup ex1ex2dup, c.-244_93+?dup - DMD_020102 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 0i_2i c.(-128065_-183)_(58_127)dup r.? p.? Unknown - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)dup g.(32849787_33020174)_(33211495_33339377)dup ex1ex2dup, c.-244_93+?dup - DMD_020102 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+?/. 0i_2i c.(-128065_-183)_(58_127)dup r.? p.? Unknown - likely pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)dup g.(32849787_33020174)_(33211495_33339377)dup dup ex1-2 - DMD_020102 - PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kohli 2020 analysis 1660 BMD/DMD patients M - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 0i_43i c.(-128065_-183)_(6195_6381)del r.? p.? Unknown - 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 - - - DNA MLPA - - DMD MD0980 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.0? p.0? Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.-244_6438+?del  - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Carmela Scuderi
+/. 0i_44i c.(-128065_-183)_(6381_6537)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del del ex1-44 - DMD_010144 - PubMed: Zhang 2019 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat30 PubMed: Zhang 2019 patient and carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 0i_47i c.(-128065_-183)_(6809_7017)del r.? p.? Unknown - 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 - - - DNA MLPA - - DMD MD0136 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_48i c.(-128065_-183)_(7017_7099-11)del r.? p.(fs*) Unknown - 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) - - - - - DNA MLPA - - BMD/DMD D271 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
./. 0i_55i c.(-128065_-183)_(8068_8390+10)del r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(33229612_33357494)del g.(31507271_31627822)_(33211495_33339377)del del ex1-55 - DMD_010055 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 0i_9i c.(-128065_-183)_(858_987)del r.? p.(fs*) Unknown - 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) - - - - - DNA MLPA - - BMD/DMD D519 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_60i c.(-128065_-183)_(8967_9117)del r.? p.? Unknown - pathogenic (recessive) g.(31366719_31462715)_(33229612_33357494)del g.(31348602_31444598)_(33211495_33339377)del ex1ex60del, c.1-?_9084+?del - DMD_010160 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 0i_60i c.(-128065_-183)_(8967_9117)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31366719_31462715)_(33229612_33357494)del g.(31348602_31444598)_(33211495_33339377)del del ex1-60 - DMD_010160 - PubMed: Zhang 2019 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat32 PubMed: Zhang 2019 patient and carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 0i_62i c.(-128065_-183)_(9186_9245)del r.? p.? Unknown - 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 - - - DNA MLPA - - DMD MD4223 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 1i_79 c.(-183_58)_(*1524_?)del r.? p.? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
?/. _1_11i_ c.(-20571_-10571)_(1332-7431_1482+2419)(dup) r.? p.? Unknown - VUS g.(32630003_32640003)_(33240000_33250000)(dup) g.(32611886_32621886)_(33221883_33231883)(dup) dup ex1-11 hg19 32640001_33240000 dup chrX_020576 610kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 4/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD13 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 4 Johan den Dunnen
+/. _0_2i c.(-210025_-210075)_(93+17277_93+17327)dup r.? p.? Unknown - 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) - - - - - DNA SEQ-NG saliva - BMD/DMD CTDUP308 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 carrier female F - (United States) - - - - - 1 Madhuri Hegde
+/. - c.(-244_*2691)delins[NC_000001.10:g.(156500001_165500000)_qterinv] r.? p.? Unknown - pathogenic (recessive) g.pter_(24900001_37600000)delins[NC_000001.10:g.(156500001_165500000)_qterinv] g.pter_(24900001_37800000)delins[NC_000001.11:g.(156600001_165500000)_qterinv] t(X;1)(p21;q23) - DMD_070352 - PubMed: Megarbane 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - NMD - PubMed: Megarbane 2022 family, 1 affected - - Lebanon - - - - - 1 Johan den Dunnen
?/. _1i c.(-571_31+9399)_(31+69398_31+79398)(dup) r.? p.? Unknown - VUS g.(33150001_33160001)_(33220000_33230000)(dup) g.(33131884_33141884)_(33201883_33211883)(dup) dup int1 hg19 33160001_33220000 dup chrX_020620 70kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD57 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
?/. _1 c.(-60571_-50571)_(-10573_-573)(dup) r.? p.? Unknown - VUS g.(33230002_33240002)_(33280000_33290000)(dup) g.(33211885_33221885)_(33261883_33271883)(dup) dup int1 hg19 33240001_33280000 dup chrX_020621 50kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD58 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
?/. _1_1i c.(-70571_-60571)_(31+49398_31+59398)(dup) r.? p.? Unknown - VUS g.(33170002_33180002)_(33290000_33300000)(dup) g.(33151885_33161885)_(33271883_33281883)(dup) dup ex1 hg19 33180001_33290000 dup chrX_020595 120kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 2/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD32 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 2 Johan den Dunnen
?/. 73i_79_ c.(10394+1_10553+982)_(*724222_?)dup r.? p.? Maternal (confirmed) - VUS g.(?_30415814)_(31186578_31190464)dup g.(?_30397697)_(31168461_31172347)dup dup ex74-79, hg19 30415814_31186578x2 - DMD_070334 771kb duplication; variant absent in maternal uncles/grandmother PubMed: Hu 2026 SCV006550913 - Germline - - - - - DNA arrayCGH, MLPA - - ? Fetus8 PubMed: Hu 2026 fetus (born healthy); incidental finding M - China - - - - - 1 Johan den Dunnen
+/. 74i_78i c.(10485_10677)_(11046+43_*1523)dup r.? p.? Unknown - pathogenic (recessive) g.(31138513_31144716)_(31165512_31187628)dup g.(31120396_31126599)_(31147395_31169511)dup dup ex75-78 - DMD_027578 - PubMed: Ge 2024 - - De novo - - - - - DNA MLPA, SEQ-NG - - BMD/DMD 17C053425 PubMed: Ge 2024 2-generation family, 1 affected, unaffected non carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 77i_79 c.(10956_11046+43)_(*1524_?)del r.(?) p.(del) Maternal (confirmed) - pathogenic (recessive) g.(?_31138513)_(31144716_31152277)del g.(?_31120396)_(31126599_31134160)del del ex78-79 - DMD_017879 - PubMed: Riguzzi 2025, Journal: Riguzzi 2025 - - Germline - - - - - DNA MLPA - - BMD - PubMed: Riguzzi 2025, Journal: Riguzzi 2025 family, 2 affected; analysis 163 BMD patients M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. 77i_78i c.(10956_11046+43)_(11046+43_*1523)del r.(del) p.(del) Unknown - 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 - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
?/. 78i_79_ c.(11046+43_*1523)_(*1523_?)dup r.(?) p.(=) Unknown - VUS g.(?_31138513)_(31138513_31144716)dup g.(?_31120396)_(31120396_31126599)dup dup ex79 - DMD_027979 - PubMed: Zhu 2026 - - Germline - 1/25,611 female - - - DNA MLPA - peripheral blood Healthy/Control Con-109 PubMed: Zhu 2026 DMD carrier screening on 25,611 females F - China - - - - - 1 Johan den Dunnen
+/. 3i_79_ c.(128_228)_(*2691_?)del r.? p.? Unknown - pathogenic (recessive) g.(?_31137345)_(32862937_32867903)del g.(?_31119228)_(32844820_32849786)del del ex4-79 - DMD_010479 - PubMed: Megarbane 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD - PubMed: Megarbane 2022 - - - Lebanon - - - - - 1 Johan den Dunnen
?/. 16i_26i_ c.(1992+3820_1993-6548)_(3603+2779_3787-569)(dup) r.? p.? Unknown - VUS g.(32460001_32470001)_(32570000_32580000)(dup) g.(32441884_32451884)_(32551883_32561883)(dup) dup ex17-26 hg19 32470001_32570000 dup chrX_020591 110kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 2/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD28 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 2 Johan den Dunnen
?/. _21i_30i c.(2381-365_2803+3036)_(4233+9868_4234-1703)(dup) r.? p.? Unknown - VUS g.(32410001_32420001)_(32500000_32510000)(dup) g.(32391884_32401884)_(32481883_32491883)(dup) dup ex22-30 hg19 32420001_32500000 dup chrX_020619 90kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD56 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
?/. 1i c.(31+29399_31+39399)_(32-1684_93+8255)(dup) r.(?) p.(=) Unknown - VUS g.(33030001_33040001)_(33190001_33200001)(dup) g.(33011884_33021884)_(33171884_33181884)(dup) dup int1 hg19 33040001_33190000 dup chrX_020594 160kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 2/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD31 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 2 Johan den Dunnen
?/. _1i c.(32-91683_32-81683)_(32-11684_32-1684)(dup) r.? p.? Unknown - VUS g.(33040001_33050001)_(33120000_33130000)(dup) g.(33021884_33031884)_(33101883_33111883)(dup) dup int1 hg19 33050001_33120000 dup chrX_020580 80kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 3/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD17 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 3 Johan den Dunnen
?/. _30i_41i_ c.(4102_4233+9869)_(5923-1608_6117+8198)(dup) r.? p.? Unknown - VUS g.(32320001_32330001)_(32420000_32430000)(dup) g.(32301884_32311884)_(32401883_32411883)(dup) dup ex31-41 hg19 32330001_32420000 dup chrX_020590 100kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 2/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD27 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 2 Johan den Dunnen
?/. _7i c.(531-2272_649+7610)_(650-12591_650-2591)(dup) r.? p.? Unknown - VUS g.(32720001_32730001)_(32820000_32830000)(dup) g.(32701884_32711884)_(32801883_32811883)(dup) dup int7 hg19 32730001_32820000 dup chrX_020567 100kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 10/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD4 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 10 Johan den Dunnen
?/. _42i_45i_ c.(5923-1607_6117+8199)_(6762+196_6912+7712)(dup) r.? p.? Unknown - VUS g.(31940001_31950001)_(32320000_32330000)(dup) g.(31921884_31931884)_(32301883_32311883)(dup) dup ex43-45 hg19 31950001_32320000 dup chrX_020589 380kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 2/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD26 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 2 Johan den Dunnen
?/. 44i_50i c.(6381_6537)_(7309+13_7422){2} r.? p.? Maternal (confirmed) - 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 PubMed: Ginjaar 2025, Journal: Ginjaar 2025 - - Germline - - - - - DNA arrayCGH, MLPA, FISH - - ? Pat27 PubMed: Ginjaar 2025, Journal: Ginjaar 2025 - M - - - - - - - 1 Hermine van Duyvenvoorde
?/. 44i c.(6438+115033_6439-123369)_(6439-83368_6439-73368)(dup) r.(?) p.(=) Unknown - VUS g.(32060001_32070001)_(32110000_32120000)(dup) g.(32041884_32051884)_(32091883_32101883)(dup) dup int44 hg19 32070001_32110000 dup chrX_020618 50kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD55 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.? Unknown - 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 - - - - - DNA MLPA, SEQ, SEQ-NG - DMD custom capture DMD DMD4/FM17P17a(DMD4)/17b(DMD7) PubMed: Aravind 2019, PubMed: Shastry 2021 3-generation family, 2 affected brothers, carrier mother/sister M - India - - - - - 2 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_(7660+1_7661-1)del r.? p.? Unknown - 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 - - - - - DNA MLPA, SEQ, SEQ-NG - DMD custom capture DMD DMD7 PubMed: Aravind 2019, PubMed: Shastry 2021 brother M - India - - - - - 1 Johan den Dunnen
+/. 44i_53_ c.(6438+1_6439-1)_(7872+1_8938-1)del r.? p.? Unknown - 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) - - - - - DNA PCRm - - DMD PID_11 PubMed: Sarker 2023 no family history M - Bangladesh - - - - - 1 Johan den Dunnen
?/. 44i c.(6438+65034_6438+75034)_(6439-33370_6439-23370)(dup) r.(?) p.(=) Unknown - VUS g.(32010001_32020001)_(32160000_32170000)(dup) g.(31991884_32001884)_(32141883_32151883)(dup) dup int44 hg19 32020001_32160000 dup chrX_020617 150kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD54 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
?/. 44i_54i_ c.(6439-113369_6439-103369)_(8028-4022_8217+5789)(dup) r.? p.? Unknown - VUS g.(31640001_31650001)_(32090000_32100000)(dup) g.(31621884_31631884)_(32071883_32081883)(dup) dup ex45-54 hg19 31650001_32090000 dup chrX_020612 450kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD49 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
?/. 7i_13i c.(650-52590_650-42590)_(1602+3873_1603-8038)(dup) r.? p.? Unknown - VUS g.(32600002_32610002)_(32760001_32770001)(dup) g.(32581885_32591885)_(32741884_32751884)(dup) dup ex8-13 hg19 32610001_32760000 dup chrX_020592 160kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 2/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD29 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 2 Johan den Dunnen
+/. 45i_53_ c.(6614+1_6615-1)_(7872+1_8938-1)del r.? p.? Unknown - 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) - - - - - DNA PCRm - - DMD PID_33 PubMed: Sarker 2023 no family history M - Bangladesh - - - - - 1 Johan den Dunnen
+/. 45i_79_ c.(6614+2302_6614+2352)_(*103081_*103131)del r.? p.? Unknown - pathogenic (recessive) g.(31036905_31036955)_(31984104_31984154)del g.? del ex46-79 - DMD_038306 947,1kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG saliva - BMD/DMD MED68 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
+/. 45i_79_ c.(6614+2302_6614+2352)_(*103081_*103131)del r.? p.? Unknown - pathogenic (recessive) g.(31036905_31036955)_(31984104_31984154)del g.? del ex46-79 - DMD_038307 947,1kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG saliva - BMD/DMD MED69 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
?/. 45i_47i c.(6614+6456_6614+16456)_(6912+17712_6913-26511)(dup) r.? p.? Unknown - VUS g.(31920001_31930001)_(31970000_31980000)(dup) g.(31901884_31911884)_(31951883_31961883)(dup) dup ex46-47 hg19 31930001_31970000 dup chrX_020616 50kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD53 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
+/. 47i_79 c.(6809_7017)_(*1524_?)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(?_31138513)_(31893386_31947816)del g.(?_31120396)_(31875269_31929699)del del ex48-79 - DMD_014879 - PubMed: Sawahreh 2025, Journal: Sawahreh 2025 - - Germline - - - - - DNA MLPA - - MD - PubMed: Sawahreh 2025, Journal: Sawahreh 2025 family, 2 affected M - Pakistan - - - - - 2 Johan den Dunnen
+/. 47i_52i c.(6912+1_6913-1)_()del r.? p.? Unknown - pathogenic (recessive) g.(31697577_31743342)_(31944322_31947815)del - - - DMD_068350 - PubMed: Shastry 2021 - - De novo - - - - - DNA MLPA, SEQ, SEQ-NG - DMD custom capture DMD FM20P20(DMD11) PubMed: Shastry 2021 4-generation family, 1 affected, non-carrier mother M - India - - - - - 1 Johan den Dunnen
?/. 47i_49i c.(6913-26510_6913-16510)_(7200+4835_7201-1800)(dup) r.? p.? Unknown - VUS g.(31840002_31850002)_(31910000_31920000)(dup) g.(31821885_31831885)_(31891883_31901883)(dup) dup ex48-49 hg19 31850001_31910000 dup chrX_020615 70kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD52 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
?/. 47i_51i c.(6913-26510_6913-16510)_(7542+22076_7543-12136)(dup) r.? p.? Unknown - VUS g.(31760002_31770002)_(31910000_31920000)(dup) g.(31741885_31751885)_(31891883_31901883)(dup) dup ex48-51 hg19 31770001_31910000 dup chrX_020613 150kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD50 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
?/. 49i_50i_ c.(7200+4835_7201-1800)_(7310-7690_7542+2078)(dup) r.? p.? Unknown - VUS g.(31790002_31800002)_(31840002_31850002)(dup) g.(31771885_31781885)_(31821885_31831885)(dup) dup ex50 hg19 31800001_31840000 dup chrX_020614 50kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD51 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
+/. 51i_53_ c.(7542+1_7543-1)_(7872+1_8938-1)del r.? p.? Maternal (confirmed) - 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) - - - - - DNA PCRm - - DMD PID_32 PubMed: Sarker 2023 family history M - Bangladesh - - - - - 1 Johan den Dunnen
?/. 52i_55i c.(7661-12297_7661-2297)_(8218-34431_8218-24431)(dup) r.? p.? Unknown - VUS g.(31550001_31560001)_(31700000_31710000)(dup) g.(31531884_31541884)_(31681883_31691883)(dup) dup ex53-55 hg19 31560001_31700000 dup chrX_020611 150kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD48 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
+/. 55i_79 c.(8068_8390+10)_(*1524_?)del r.? p.? Unknown - pathogenic (recessive) g.(?_31138513)_(31525388_31645939)del g.(?_31120396)_(31507271_31627822)del del ex56-79 - DMD_015679 - PubMed: Sagi-Dain 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, no family history M - Israel - - - - - 1 Johan den Dunnen
+/. 55i_79 c.(8068_8390+10)_(*1524_?)del r.? p.? Unknown - pathogenic (recessive) g.(?_31138513)_(31525388_31645939)del g.(?_31120396)_(31507271_31627822)del del ex56-79 - DMD_015679 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #137 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
+/. 55i_78i c.(8068_8390+10)_(11046+43_*1523)dup r.(dup) p.(dup) Unknown - 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 - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 55i_78i c.(8068_8390+10)_(11046+43_*1523)dup r.(dup) p.(dup) Unknown - 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 - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
?/. 55i_60i c.(8217+5790_8217+15790)_(9084+22597_9084+32597)(dup) r.? p.? Unknown - VUS g.(31430002_31440002)_(31630000_31640000)(dup) g.(31411885_31421885)_(31611883_31621883)(dup) dup ex56-60 hg19 31440001_31630000 dup chrX_020579 200kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 3/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD16 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 3 Johan den Dunnen
?/. 55i_57i_ c.(8218-54430_8218-44430)_(8548-2781_8937+6222)(dup) r.? p.? Unknown - VUS g.(31490001_31500001)_(31570000_31580000)(dup) g.(31471884_31481884)_(31551883_31561883)(dup) dup ex56-57 hg19 31500001_31570000 dup chrX_020610 80kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD47 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
?/. _57i_62i c.(8391-4939_8547+4905)_(9225-10867_9225-867)(dup) r.? p.? Unknown - VUS g.(31280001_31290001)_(31510000_31520000)(dup) g.(31261884_31271884)_(31491883_31501883)(dup) dup ex58-62 hg19 31290001_31510000 dup chrX_020588 230kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 2/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD25 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 2 Johan den Dunnen
?/. 59i_60i c.(8937+16224_8938-7255)_(9085-13250_9085-3250)(dup) r.? p.? Unknown - VUS g.(31370001_31380001)_(31470000_31480000)(dup) g.(31351884_31361884)_(31451883_31461883)(dup) dup ex60 hg19 31380001_31470000 dup chrX_020609 100kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 1/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD46 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 1 Johan den Dunnen
-?/. 60i_79_ c.(8967_9117)_(*1523_*746890)dup r.? p.? Maternal (confirmed) - 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 1.04 Mb gain at Xp21.2; asymptomatic (67y) grandfather carries duplication; FISH confirms Xp21.2 location PubMed: Ginjaar 2025, Journal: Ginjaar 2025 - - Germline - - - - - DNA arrayCGH, MLPA, FISH - - ? Pat31 PubMed: Ginjaar 2025, Journal: Ginjaar 2025 - F - - - - - - - 2 Hermine van Duyvenvoorde
-?/. 60i_79_ c.(8967_9117)_(*1523_*85039)dup r.? p.? Maternal (confirmed) - 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 351 kb gain at Xp21.2p21.1; asymptomatic (66y) father of mother carries duplication; FISH confirms Xp21.2 location PubMed: Ginjaar 2025, Journal: Ginjaar 2025 - - Germline - - - - - DNA arrayCGH, MLPA, FISH - - ? Pat32 PubMed: Ginjaar 2025, Journal: Ginjaar 2025 fetus F - - - - - - - 2 Hermine van Duyvenvoorde
+/. 60i_79 c.(8967_9117)_(*1524_?)del r.? p.? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 60i_79 c.(8967_9117)_(*1524_?)dup r.? p.? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
?/. 60i_79_ c.(9084+1_9085-17062)_(*192741_?)dup r.? p.? Maternal (confirmed) - VUS g.(?_30947295)_(31383813_31462597)dup g.(?_30929178)_(31365696_31444480)dup dup ex61-79, hg19 30947295_31383813x2 - DMD_070335 437kb duplication PubMed: Hu 2026 SCV006550926 - Germline - - - - - DNA arrayCGH, MLPA - - ? Fetus7 PubMed: Hu 2026 family, 1 fetus (born healthy), carrier mother/maternal grandfather; incidental finding M - China - - - - - 1 Johan den Dunnen
?/. 61i_79_ c.(9117_9186)_(*1523_?)dup r.(?) p.(=) Unknown - VUS g.(?_31138513)_(31341753_31366719)dup g.(?_31120396)_(31323636_31348602)dup dup ex62-79 - DMD_026279 - PubMed: Zhu 2026 - - Germline - 1/25,611 female - - - DNA MLPA - peripheral blood Healthy/Control Con-107 PubMed: Zhu 2026 DMD carrier screening on 25,611 females F - China - - - - - 1 Johan den Dunnen
+/. 62i_79_ c.(9186_9245)_(*1523_*279710)dup - - Parent #1 - 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 542 kb gain at Xp21.1, 419 kb gain at Xp21.2; non-contiguous duplication exons 45-54 and 63-79; FISH confirms interstitial duplication at DMD gene PubMed: Ginjaar 2025, Journal: Ginjaar 2025 - - De novo - - - - normal X-inactivation pattern DNA arrayCGH, MLPA, FISH - - ? Pat29 PubMed: Ginjaar 2025, Journal: Ginjaar 2025 - F - - - - - - - 1 Hermine van Duyvenvoorde
?/. 62i_79_ c.(9186_9245)_(*1523_?)dup r.(?) p.(=) Unknown - VUS g.(?_31138513)_(31279113_31341753)dup g.(?_31120396)_(31260996_31323636)dup dup ex63-79 - DMD_026379 - PubMed: Zhu 2026 - - Germline - 1/25,611 female - - - DNA MLPA - peripheral blood Healthy/Control Con-108 PubMed: Zhu 2026 DMD carrier screening on 25,611 females F - China - - - - - 1 Johan den Dunnen
+/. 62i_79 c.(9186_9245)_(*1524_?)dup r.? p.? Unknown - 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) - - - - - DNA MLPA - - MD - PubMed: Sawahreh 2025, Journal: Sawahreh 2025 - M - Iraq - - - - - 1 Johan den Dunnen
?/. _63i_78i_ c.(9286+9073_9287-18761)_(*34_*10034)(dup) r.? p.? Unknown - VUS g.(31130002_31140002)_(31260001_31270001)(dup) g.(31111885_31121885)_(31241884_31251884)(dup) dup ex64-78 hg19 31140001_31260000 dup chrX_020570 130kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 6/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD7 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 6 Johan den Dunnen
?/. 2i c.(93+18256_93+28256)_(93+68256_93+78256)(dup) r.(?) p.(=) Unknown - VUS g.(32960001_32970001)_(33010000_33020000)(dup) g.(32941884_32951884)_(32991883_33001883)(dup) dup int2 hg19 32970001_33010000 dup chrX_020593 50kb duplication (i.e. detection extra copy) PubMed: Hu 2026 - - Germline/De novo (untested) - 2/113,017 control females - - - DNA SEQ-NG - CNV/10 kb bin Healthy/Control CNV-DMD30 PubMed: Hu 2026 analysis 113,017 control females for CNVs F - China - - - - - 2 Johan den Dunnen
+/. 9i_79_ c.(960+17577_960+17627)_(*2926_*2976)del r.? p.? Unknown - 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) - - - - - DNA SEQ-NG whole blood - BMD/DMD MED5 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
+/. 10i_11i c.(987_1174)_(1174_13834)del r.? p.(fs) Unknown - 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) - - - - - DNA MLPA P034/P035 - BMD/DMD Pat9 PubMed: Verma 2012, Journal: Verma 2012 patient M - India - - - - - 1 Johan den Dunnen
+/. 10i_11i c.(987_1174)_(1174_13834)del r.? p.(fs) Unknown - 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) - - - - - DNA MLPA P034/P035 - BMD/DMD Pat10 PubMed: Verma 2012, Journal: Verma 2012 patient M - India - - - - - 1 Johan den Dunnen
+/. _0_79 c.(?_-128065)_(*1524_?)del r.0? p.0? Unknown - 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 - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. _0_1i c.(?_-128065)_(-183_58)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(33038290_33357494)_(33357494_?)del g.(33020173_33339377)_(33339377_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D424 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. _0_1i c.(?_-128065)_(-183_58)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(33038290_33357494)_(33357494_?)del g.(33020173_33339377)_(33339377_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D595 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. _0_1i c.(?_-128065)_(-183_58)del r.? p.0? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33357494_?)del g.(33020174_33211495)_(33339377_?)del del Dp427c/ex1, c.(?_-128297)_31+?del - DMD_010001 - PubMed: Rasic 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat01 PubMed: Rasic 2015 analysis intellectual ability 41 DMD patients M - Serbia - - - - - 1 Johan den Dunnen
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