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.

8258 entries on 83 pages. Showing entries 1 - 100.
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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     
+/. 2 1i_79 c.(-182_59)_(*1524_?)del r.? p.? - pathogenic (recessive) g.(?_31138512)_(33038290_33229611)del g.(?_31120395)_(33020173_33211494)del del ex2-79 - DMD_010279 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - Yi Dai
+/. 1 0i_79 c.(-194_-144)_(*1564_*1614)del r.0? p.? - pathogenic (recessive) g.(31138422_31138472)_(33229573_33229623)del g.(33211456_33211506)_(31120305_31120355)del del ex1-79 - DMD_038026 2091,1kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - Madhuri Hegde
+/. 1 0i_79 c.(-60_-10)_(*10_*60)del r.0? p.? - pathogenic (recessive) g.(31139976_31140026)_(33229439_33229489)del g.(33211322_33211372)_(31121859_31121909)del del ex1-79 - DMD_038029 2089,4kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - Madhuri Hegde
+/. 1 17i_27i c.(2085_2226)_(3664_3813)del r.? p.? - pathogenic (recessive) g.(32459405_32466695)_(32536191_32563359)del g.(32441288_32448578)_(32518074_32545242)del del ex18-27 - DMD_011827 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 1 34i_35i c.(4740_4891)_(4891_5081)del r.? p.? - pathogenic (recessive) g.(32382772_32383271)_(32383271_32398732)del g.(32364655_32365154)_(32365154_32380615)del del ex35 - DMD_013535 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 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 45i_50i c.(6538_6706)_(7309+14_7423)del r.? p.? - pathogenic (recessive) g.(31792196_31838078)_(31950253_31986532)del g.(31774079_31819961)_(31932136_31968415)del del ex46-50 - DMD_014650 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 2 45i_79_ c.(6614+2302_6614+2352)_*2691{0} 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_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 55i_79 c.(8218-60_8218-10)_(*10_*60)del r.? p.? - pathogenic (recessive) g.(31139976_31140026)_(31525580_31525630)del g.(31507463_31507513)_(31121859_31121909)del del ex56-79 - DMD_038422 385,6kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - Madhuri Hegde
+/. 1 56i_79 c.(8391-4555_8391-4505)_(*2548_*2598)del r.? p.? - pathogenic (recessive) g.(31137438_31137488)_(31519566_31519616)del g.(31501449_31501499)_(31119321_31119371)del del ex57-79 - DMD_038423 382,1kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - Madhuri Hegde
+/. 1 59i_79 c.(8798_8968)_(*1524_?)del r.? p.? - pathogenic (recessive) g.(?_31138512)_(31462714_31496362)del g.(?_31120395)_(31444597_31478245)del del ex60-79 - DMD_016079 - PubMed: Yun 2021 - - Germline - - - - - Johan den Dunnen
./. 2 60i_79_ c.(8968_9118)_*2691dup r.? - - pathogenic (!) g.(?_31137345)_(31366718_31462714)dup g.(?_31119228)_(31348601_31444597)dup del ex27-43 & dup ex61-79, del ex27-45 & dup ex61-79 - DMD_038443, DMD_038445 non-contiguous deletion del ex27-43 and duplication ex61-79, 1 more item - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 1 62i_79 c.(9187_9246)_(*1524_?)dup r.? p.? - pathogenic (recessive) g.(?_31138512)_(31279112_31341752)dup g.(?_31120395)_(31260995_31323635)dup dup ex63-79 - DMD_026379 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 62i_78i c.(9187_9246)_(11046+44_*1524)del r.? p.fs - pathogenic (recessive) g.(31138512_31144715)_(31279112_31341752)del g.(31120395_31126598)_(31260995_31323635)del del ex63-78 - DMD_016378 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 9i_79_ c.(960+17577_960+17627)_*2691{0} 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
+/. 1 0i_1i c.-241_(31+1_32-1){0} r.? p.? - pathogenic (recessive) g.(33038290_33122034)_(33245415_33357493)del - - - DMD_068359 - PubMed: Shastry 2021 - - De novo - - - - - Johan den Dunnen
+/. 3 0i_79, 0i_79_ c.-244(_-182)_(*1524_?){0} r.0?, r.? p.(fs*), p.0? - pathogenic (recessive) g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del del ex1-79; c.(-127947_-245)_*2691del, ex1ex79del, c.-244_*2691del  - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020, PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - Chao Ling, Carmela Scuderi
+/. 5 0i_1i c.-244(_-182)_(-182_59)del r.0? p.0? - pathogenic (recessive) g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1 - DMD_010101 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - Yi Dai
+/. 7 0i_1i c.-244(_-182)_(-182_59){0} r.? p.(fs*), p.? - pathogenic (recessive) g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1, del ex1; c.(-127947_-245)_(31+1_32-1)del, ex1del, c.(?_-244)_31+?del, ex1del, c.-244_31+?del, 1 more item - DMD_010101, DMD_046507 - PubMed: Guo 2015, PubMed: Ling 2020, Journal: Ling 2020, PubMed: Neri 2020, Journal: Neri 2020, 1 more item - - Germline, Germline/De novo (untested) - 1/260 cases, 1/613 cases - - - Johan den Dunnen, Güven Toksoy, Chao Ling, Lorena Travaglini, Vincenzo Nigro, Emiliano Giardina
+/. 1 0i_1i c.-244(_-182)_(-182_59){2} r.? p.? - pathogenic (recessive) g.(33038290_33229611)_(33229611_33357493)dup g.(33020173_33211494)_(33211494_33339376)dup dup ex1 and dup ex3-16 - DMD_020101 non-contiguous duplication ex1 and duplication ex3-16 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 1 0i_12i c.-244(_-182)_(1403_1602){0} r.? p.(fs*) - pathogenic (recessive) g.(32613874_32632499)_(33229611_33357493)del g.(32595757_32614382)_(33211494_33339376)del ex1ex12del, c.-244_1482+?del - DMD_010112 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - Dr Silvana Tedeschi
+/. 1 0i_13i c.-244(_-182)_(1602_1603-7){0} r.? p.0? - pathogenic (recessive) g.(32591970_32613874)_(33229611_33357493)del g.(32573853_32595757)_(33211494_33339376)del del ex1-13 - DMD_010113 - PubMed: Luce 2016, Journal: Luce2016 - - Germline/De novo (untested) - - - - - Florencia Giliberto
+/. 1 0i_16i c.-244(_-182)_(1852_2085){0} r.? p.(fs*) - pathogenic (recessive) g.(32563359_32583959)_(33229611_33357493)del g.(32545242_32565842)_(33211494_33339376)del del ex1-16; c.(-127947_-245)_(1992+1_1993-1)del - DMD_010116 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 0i_18i c.-244(_-182)_(2226_2293-9){0} r.? p.0? - pathogenic (recessive) g.(32519968_32536191)_(33229611_33357493)del g.(32501851_32518074)_(33211494_33339376)del del ex1-18 - DMD_010118 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - Johan den Dunnen
+/. 1 0i_6i c.-244(_-182)_(411_558){0} r.0? p.0? - pathogenic (recessive) g.(32827701_32834704)_(33229611_33357493)del g.(32809584_32816587)_(33211494_33339376)del delDp427m-ex6 - DMD_010106 - PubMed: Tyers 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 3 0i_2i c.-244(_-182)_(59_128){0} r.0?, r.? p.(fs*), p.0?, p.? - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)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.-244(_-182)_(59_128){2} r.? p.? - likely pathogenic (recessive), pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)dup g.(32849786_33020173)_(33211494_33339376)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, Vincenzo Nigro
+/. 1 0i_43i c.-244(_-182)_(6196_6382){0} r.? p.? - pathogenic (recessive) g.(32235089_32305740)_(33229611_33357493)del g.(32216972_32287623)_(33211494_33339376)del del ex1-43 - DMD_010143 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 4 0i_44i c.-244(_-182)_(6382_6538){0} r.0?, r.? p.(fs*), p.0?, p.? - pathogenic (recessive) g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)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.-244(_-182)_(6810_7018){0} r.? p.? - pathogenic (recessive) g.(31893385_31947815)_(33229611_33357493)del g.(31875268_31929698)_(33211494_33339376)del del ex1-47 - DMD_010147 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 1 0i_48i c.-244(_-182)_(7018_7099-10)del r.? p.? - pathogenic (recessive) g.(31854946_31893385)_(33229611_33357493)del g.(31836829_31875268)_(33211494_33339376)del del ex1-48 - DMD_010148 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - Yi Dai
+/. 1 0i_48i c.-244(_-182)_(7018_7099-10){0} r.? p.(fs*) - pathogenic (recessive) g.(31854946_31893385)_(33229611_33357493)del g.(31836829_31875268)_(33211494_33339376)del del ex1-48; c.(-127947_-245)_(7098+1_7099-1)del - DMD_010148 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - Chao Ling
./. 1 0i_55i c.-244(_-182)_(8069_8390+28){0} r.? p.? - pathogenic (recessive) g.(31525370_31645938)_(33229611_33357493) del g.(31507253_31627821)_(33211494_33339376)del del ex1-55 - DMD_010055 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 1 0i_9i c.-244(_-182)_(859_988)del r.? p.? - pathogenic (recessive) g.(32663242_32716088)_(33229611_33357493)del g.(32645125_32697971)_(33211494_33339376)del del ex1-9 - DMD_010109 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - Yi Dai
+/. 1 0i_9i c.-244(_-182)_(859_988){0} r.? p.(fs*) - pathogenic (recessive) g.(32663242_32716088)_(33229611_33357493)del g.(32645125_32697971)_(33211494_33339376)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.-244(_-182)_(8968_9118){0} r.? p.? - pathogenic (recessive) g.(31366718_31462714)_(33229611_33357493)del g.(31348601_31444597)_(33211494_33339376)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.-244(_-182)_(9187_9246){0} r.? p.? - pathogenic (recessive) g.(31279112_31341752)_(33229611_33357493)del g.(31260995_31323635)_(33211494_33339376)del del ex1m-62 - DMD_010162 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 1 _0_79 c.-244_(*1524_?){0} r.0? p.0? - pathogenic (recessive) g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del del ex1-79 - DMD_010079 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - - - Johan den Dunnen
+/., ./. 5 _0_1i c.-244_(-182_59){0} r.? p.(fs*), p.0?, p.? - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del, g.(33038290_33357493)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del, g.(33020173_33339376)_(33339376_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del, del Dp427c/ex1, c.(?_-128297)_31+?del, del exDp427c-1 - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020, PubMed: Rasic 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen, Chao Ling, Shubha R Phadke
+/. 1 _0_1i c.-244_(-182_59){2} r.? p.? - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)dup g.(33020173_33211494)_(33339376_?)dup dup exDp427c-1 and dup ex45-49 - DMD_020001 non-contiguous duplication exDp427c-1 and ex45-49 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 1 _0_1i c.-244_(-18{0}2_59){0} r.? p.? - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del exDp427c-1 - DMD_010001 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
./. 1 _0_17i c.-244_(2085_2226){0} r.? p.? - pathogenic (recessive) g.(32536191_32563359)_(33357493_?)del g.(32518074_32545242)_(33339376_?)del del exDp427c-17 - DMD_010017 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 1 _0_39i c.-244_(5449-4_5587-23){0} r.? p.(fs*) - pathogenic (recessive) g.(32361426_32364201)_(33357493_?)del g.(32343309_32346084)_(33339376_?)del del Dp427c-ex39; c.-244_(5586+1_5587-1)del - DMD_010039 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - Chao Ling
+/., ./. 3 0i_2i, _0_2i c.-244_(59_128){0} r.? p.(fs*), p.? - pathogenic (recessive) g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339376_?)del del Dp427c-ex2; c.-244_(93+1_94-1)del, del ex1-2, del exDp427c-2 - DMD_010002 - PubMed: Guo 2015, PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen, Chao Ling, Shubha R Phadke
+/. 2 _0_44i c.-244_(6382_6538){0} r.? p.(fs*), p.? - pathogenic (recessive) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del del Dp427c-ex44; c.-244_(6438+1_6439-1)del, del exDp427c-44 - DMD_010044 - PubMed: Guo 2015, PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen, Chao Ling
+/. 2 _0_7i c.-244_(649+1_650-1){2} 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_47i c.-244_(6810_7018){0} r.0? p.0? - pathogenic (recessive) g.(31893385_31947815)_(33357493_?)del g.(31875268_31929698)_(33339376_?)del Dp427cex47del, (c.-244_6912+?del) - DMD_010047 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - Milena Cau
+/. 1 _0_2i c.-244_(93+17277_93+17327){2} 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 _0_2i c.-244_(93+1_94-1){2} 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
+/. 3 _0_79_ c.-244_*2691{0} r.0, r.0? p.0, p.? - pathogenic (recessive) g.(30858832_30858882)_(35229274_35229324)del, g.(?_31137345)_(33357493_?)del g.(?_31119228)_(33339376_?)del, g.? del ex1-79, del gene - DMD_010080, DMD_038031, DMD_038032 4370,4kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021, PubMed: Tyers 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen, Madhuri Hegde
./. 1 _0_0i c.-244_-244(_-182)del r.? p.? - VUS (!) g.(33229611_33357493)_(33357493_?)del g.(33211494_33339376)_(33339376_?)del del ex14 & Dp427c - DMD_038446 non-contiguous deletion DP427c and 14 - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 1 _0_1i c.-244__(-182_59){0} r.? p.? - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del Dp427c-ex1 - DMD_010001 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 _0_29i c.-244__(3991_4194)del r.? p.? - pathogenic (recessive) g.(32429908_32456438)_(33357493_?)del g.(32411791_32438321)_(33339376_?)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
+/. 2 _0_2i c.-244__(59_128)del r.? p.? - pathogenic (recessive) g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339376_?)del del ex Dp427c-2; c.-128297_93+?del, del exDp427c-2; c.-128297_93+?del - DMD_010002 - PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 - - Germline - 1/152 cases - - - Maria Luisa Guevara Gil
+/. 1 _0_44i c.-244__(6382_6538)del r.? p.? - pathogenic (recessive) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del del exDp427c-44; c.-128297_6438+?)del - DMD_010044 - PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 - - Germline - 1/152 cases - - - Maria Luisa Guevara Gil
+/. 1 _0_51i c.-244__(7423_7629){0} r.? p.? - pathogenic (recessive) g.(31747779_31792196)_(33357493_?)del g.(31729662_31774079)_(33339376_?)del del Dp427c-ex51 - DMD_010051 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 24 C.3242C>A r.(?) p.(Ser1081*) - pathogenic (recessive) g.32482737G>T g.32464620G>T - - DMD_003878 1 more item PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - Vincenzo Nigro
+/. 1 31 c.4312 C>T r.(?) p.(Gln1438*) - pathogenic (recessive) g.32408220G>A g.32390103G>A - - DMD_046295 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - Yi Dai
+/. 1 49i c.7201-3 A>G r.spl? p.? - pathogenic (recessive) g.31838203T>C g.31820086T>C - - DMD_004618 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - Yi Dai
+/., ?/. 13 0i_40i, 18, 20, 21, 3i_69i, 44i_63i, 67 c.? -, r.(?), r.? -, p.(Ala765Cysfs*8), p.? - pathogenic (recessive), VUS g.? g.? 2292dup7, 2518G>T (Gln840*), 2664C>T (Gln888Ter), 9669C>T (Arg3223*Ter), c.513T>A (H171Q), 7 more items - DMD_000000, DMD_030140, DMD_030469, DMD_034563, USP9X_000005 non contiguous duplication of exons 45-50, 53, 68, 69, 72,73,75 PubMed: Deepha 2017, PubMed: Ma 2018, Journal: Ma 2018, PubMed: Neri 2020, Journal: Neri 2020, 3 more items - - De novo, Germline, Germline/De novo (untested) - 1/100 cases BMD/DMD - - - Johan den Dunnen, Monica Traverso, Lakshmi Bremadesam
+?/. 1 _0_1i c.(?_-989604)_(31+79696_32-1)dup r.(?) p.(?) - pathogenic (recessive) g.33149703_34219033dup - - - DMD_046511 Patient carrying a discontinuous duplication - - - Unknown - - - - - Florencia Giliberto
-/. 1 _0 c.-202238G>A r.(?) p.(=) - benign g.33431667C>T g.33413550C>T - - DMD_000933 - Affymetrix-2967194 - - Germline - 0.07 - - - Johan den Dunnen
+/. 1 _0_9i c.-244_(960+1_961-1){0} r.0? p.0? - pathogenic (recessive) g.(32663270_32715986)_(33357726_?)del g.(32645153_32697869)_(33339609_?)del - - DMD_050009 deletion includes DXS1242 (DYSII) - - - Germline - - - - - Mireille Claustres
-?/. 1 _0 c.-128499_-128498del r.(?) p.(=) - likely benign g.33357931_33357932del g.33339814_33339815del Dp427c:-545_-547delAG - DMD_002276 - PubMed: Flanigan 2009 - rs72470543 Germline - 1/606 - - - Kevin Flanigan
-/. 1 _0 c.-128410A>C r.(=) p.(=) - benign g.33357839T>G g.33339722T>G Dp427c:-457A>C - DMD_001882 - PubMed: Flanigan 2009 - rs66718538 Germline - 67/637 - - - Kevin Flanigan
+/. 3 _0_1i c.-244_(-182_59){0} r.0? p.0? - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c Jorge ESHG2006 P1191 - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar
?/. 1 _0_1i c.-244_(-182_59){2} r.? p.? - VUS g.(33038290_33229611)_(33357493_?)dup g.(33020173_33211494)_(33339376_?)dup c.-244_(31+1_32-1)dup - DMD_020001 non-contiguous duplication duplication brain/muscle promoter and exons 45-55 - - - Germline - - - - - Jiang Wenting
+/. 1 _0_1i c.-244_(31+1_32-1){0} r.0? p.0? - pathogenic (recessive) g.(33038318_33229398)_(33357726_?)del g.(33020201_33211281)_(33339609_?)del - - DMD_050001 deletion includes Dp427c - - - Germline - - - - - Tanja Lalic
+/. 1 _0_1i c.-244_(31+29960_31+30066){0} r.0 p.0 - pathogenic (recessive) g.(33199333_33199439)_(33358795_38181471)del g.(33181216_33181322)_(33340678_38163354)del hg18 g.(33109254_33109360)_(33268716_38091392)del - DMD_038001 159.4 Kb deletion PubMed: del Gaudio 2008 - - Germline - - - - - Johan den Dunnen
+/. 3 _0_1i c.-244_(31+83220_32-1){0} r.0 p.0 - pathogenic (recessive) g.(33038318_33146179)_(33357726_?)del - Dp427c,Dp427p - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - - - Kevin Flanigan
+/. 1 _0_2i c.-244_(93+1_94-1){0} r.0 p.0 - pathogenic (recessive) g.(32867938_33038255)_(33357726_?)del g.(32849821_33020138)_(33339609_?)del Dp427c,Dp427p - DMD_050002 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - - - Kevin Flanigan
+/. 1 _0_7i c.-244_(649+1_650-1){0} r.0 p.? - pathogenic (recessive) g.(32717411_32827609)_(33357726_?)del g.(32699294_32809492)_(33339609_?)del Dp427c,Dp427p - DMD_050007 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - - - Kevin Flanigan
+/. 1 _0_9i c.-244_(859_988){2} r.(?) p.? - pathogenic (recessive) g.(32663242_32716088)_(33357493_?)dup g.(32645125_32697971)_(33339376_?)dup ex1ex9dup; c.-244_(960+1_961-1)dup - DMD_020009 - - - - Unknown - - - - - Alessandra Ferlini
+/+, +/. 4 _0_18i c.-244_(2292+1_2293-1){0} r.0? p.0? - pathogenic (recessive) g.(32519960_32536124)_(33357726_?)del g.(32501843_32518007)_(33339609_?)del del1b-18 - DMD_050018 breakpoint within 5 kb centromeric of BB (cell line GM07691B), deletion includes Dp427c, 2 more items PubMed: Brown 1996, PubMed: Brown, PubMed: Kalman 2011, PubMed: Stockley 2006 - - Germline, Unknown - - - - - Johan den Dunnen, Peter Ray
+/. 1 _0_30i c.-244_(4194_4312){0} r.0 p.0 - pathogenic (recessive) g.(32408220_32429908)_(33357493_?)del g.(32390103_32411791)_(33339376_?)del c.-244_(4233+1_4234-1)del - DMD_010030 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 _0_31i c.-244_(4344+1_4345-1){0} r.0? p.? - pathogenic (recessive) g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 DMD_042217 5711.4 kb deletion PubMed: Arai 2012 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 _0_44i c.-244_(6382_6538){0} r.0, r.0? p.0, p.0? - likely pathogenic, pathogenic (recessive) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del c.-244_(6438+1_6439-1)del - DMD_010044 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - - - Johan den Dunnen, Martin Cruz
+/. 1 _0_44i c.-244_(6438+1_6439-1){0} r.0 p.0 - pathogenic (recessive) g.(31986632_32235032)_(33357726_?)del g.(31968515_32216915)_(33339609_?)del - - DMD_050044 deletion incl. Dp427c - - - Germline - - - - - Ayfer Ulgenalp
+/. 1 _0_45i c.-244_(6538_6706){0} r.0? p.0? - pathogenic (recessive) g.(31950253_31986532)_(33357493_?)del g.(31932136_31968415)_(33339376_?)del ex1ex45del; c.-244_(6614+1_6615-1)del - DMD_010045 - - - - Unknown - - - - - Alessandra Ferlini
+/. 1 _0_47i c.-244_(6810_7018){0} r.0 p.0 - pathogenic (recessive) g.(31893385_31947815)_(33357493_?)del g.(31875268_31929698)_(33339376_?)del c.-244_(6912+1_6913-1)del - DMD_010047 deletion incl. Dp427c - - - Germline - - - - - Ieke Ginjaar
+/. 2 _0_79_ c.-244_(*1524_?){0} r.0 p.0 - pathogenic (recessive) g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c - - - Germline - - - - - Ieke Ginjaar
+/+, +/. 7 _0_79_ c.-244_*2691{0} r.0, r.0? p.0, p.0? - pathogenic (recessive) g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del Dp427p; Dp427c, hg18 g.(?_31042316)_(33268716_?)del - DMD_050080 >2.3 Mb whole gene deletion, deletion incl. Dp427c, deletion incl. IL1RAPL1, NR0B1, GK, 2 more items PubMed: del Gaudio 2008, PubMed: Flanigan 2009, PubMed: Zhang 2004 - - Germline, Germline/De novo (untested), Unknown - - - - - Johan den Dunnen, Ieke Ginjaar, Kevin Flanigan
-/. 1 0 c.-128249G>T r.(=) p.(=) - benign g.33357678C>A g.33339561C>A - - DMD_001386 - PubMed: Flanigan 2009 - - Germline - 0.97 - - - Kevin Flanigan
-/. 3 0 c.-128163A>G r.(=), r.(?) p.(=) - benign g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - PubMed: Flanigan 2009 - rs5927163 Germline - 0.11, 2/28, 36/692 - - - Laurence Michel-Calemard, Franziska Joncourt, Kevin Flanigan
-/. 1 _1 c.-127831del r.(=) p.(=) - benign g.33357262del g.33339145del -127831delA - DMD_001387 - - - - Germline - 0.01 - - - Kevin Flanigan
-/. 1 _1 c.-127810T>C r.(=) p.(=) - benign g.33357239A>G g.33339122A>G - - DMD_001388 - - - - Germline - 0.01 - - - Kevin Flanigan
?/. 1 0i_7i c.-244_(649+1_650-1){2} r.? p.? - VUS g.(32717411_32827609)_(33229674_33357375)dup g.(32699294_32809492)_(33211557_33339258)dup - - DMD_060107 extra copy exons 1m-7 DMD gene email request - - Germline - - - - - Johan den Dunnen
+/. 1 0i_2i c.-244(_-182)_(59_128){0} r.? p.? - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del ex1ex2del; c.-244_(93+1_94-1)del - DMD_010102 - - - - Unknown - - - - - Alessandra Ferlini
+/. 1 0i_13i c.-244(_-182)_(1602_1603-7){0} r.? p.? - pathogenic (recessive) g.(32591970_32613874)_(33229611_33357493)del g.(32573853_32595757)_(33211494_33339376)del ex1ex13del; c.-244_(1602+1_1603-1)del - DMD_010113 - - - - Unknown - - - - - Alessandra Ferlini
-/. 1 _1 c.-46953C>G r.(?) p.(=) - benign g.33276382G>C g.33258265G>C - - DMD_000932 - Affymetrix-2967109 - - Germline - 0.46 - - - Johan den Dunnen
?/. 1 _1_ c.(?_-25798)_(7+108860_?)x3 r.? p.? - VUS g.(?_33120563)_(33255227_?)[3] - chrX(33,158,437-33,293,101)x3 - DMD_040076 unknown reference sequence hg18 or hg19; 2 copies detected, location additional copy not determined - - - Unknown - - - - - Johan den Dunnen
-/. 1 _1 c.-25482G>C r.(?) p.(=) - benign g.33254911C>G g.33236794C>G - - DMD_000931 - Affymetrix-2967095 - - Germline - 0.04 - - - Johan den Dunnen
+/. 1 _1_1i c.-13496_31+1783del r.0? p.0? - pathogenic (recessive) g.33227618_33242927del g.33209501_33224810del - - DMD_001358 15.3 kb deletion PubMed: Muntoni, PubMed: Bastianutto 2002, {GenBankAF324932}, - - Germline - - - - - Johan den Dunnen
+/. 1 _1_1i c.-1443_31+4726delinsTTTTTAAAATTA r.0? p.0? - pathogenic (recessive) g.33224673_33230872delinsTAATTTTAAAAA g.33206556_33212755delinsTAATTTTAAAAA -1443_31+4726delins12 - DMD_001359 6.2 kb deletion PubMed: Bastianutto 2002, {GenBankAF373844} - - Germline - - - - - Johan den Dunnen
-/. 1 _1 c.-807A>T r.(=) p.(=) - benign g.33230236T>A g.33212119T>A - - DMD_001389 - - - - Germline - 0.01 - - - Kevin Flanigan
+/. 1 _1_1 c.-648_0dup r.(?) p.(Met1?) - pathogenic (recessive) g.33229430_33230077dup g.33211313_33211960dup - - DMD_002085 de novo, in patient UMD 366 database - - De novo - - - - - Johan den Dunnen
+/. 1 0i_1i c.(-496_-446)_(31+13534_31+13584)del r.0? p.? - pathogenic (recessive) g.(33215815_33215865)_(33229875_33229925)del g.(33211758_33211808)_(33197698_33197748)del del ex1 - DMD_038028 14kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - Madhuri Hegde
-/. 1 _1 c.-419A>G r.(?) p.(=) - benign g.33229848T>C g.33211731T>C -176A>G - DMD_001008 - PubMed: Tuffery 1993 - - Germline - 1/13 - - - Mireille Claustres
+/. 1 0i_2i c.(-375_-325)_(93+17051_93+17101)dup r.0? p.? - pathogenic (recessive) g.(33021155_33021205)_(33229754_33229804)dup g.(33211637_33211687)_(33003038_33003088)dup dup ex1-2 - DMD_038027 208,5kb duplication PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - Madhuri Hegde
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