Unique variants in the DMD gene

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.

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Effect     

Reported     

Exon     

AscendingDNA 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_*2691del  - 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
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