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.

23480 entries on 235 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 0i_79 c.-244(_-182)_(*1524_?)del pathogenic (recessive) r.0? p.0? Unknown g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del ex1ex79del, c.-244_*2691del  - DMD_010179 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - F - Italy - - 0 - - 1 Carmela Scuderi
+/. 0i_79_ c.-244(_-182)_(*1524_?)[0] pathogenic (recessive) r.? p.(fs*) Unknown g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del del ex1-79; c.(-127947_-245)_*2691del - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D174 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. 0i_79_ c.-244(_-182)_(*1524_?)[0] pathogenic (recessive) r.? p.(fs*) Unknown g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del del ex1-79; c.(-127947_-245)_*2691del - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D657 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. 0i_1i c.-244(_-182)_(-182_59)del pathogenic (recessive) r.? p.? Unknown g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - 0 - DNA MLPA, SEQ - - DMD CASE_0100 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - 0 - - 1 Güven Toksoy
+/. 0i_1i c.-244(_-182)_(-182_59)del pathogenic (recessive) r.? p.? Unknown g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - 0 - DNA MLPA, SEQ - - DMD CASE_0148 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - 0 - - 1 Güven Toksoy
+/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.(fs*) Unknown g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1; c.(-127947_-245)_(31+1_32-1)del - DMD_046507 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D306 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.? Unknown g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del ex1del, c.(?_-244)_31+?del - DMD_010101 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Vincenzo Nigro
+/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.? Unknown g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del ex1del, c.-244_31+?del - DMD_010101 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - Healthy/Control - - - F - Italy - - 0 - - 1 Emiliano Giardina
+/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.? Unknown g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del ex1del, c.1-?_31+?del - DMD_010101 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Lorena Travaglini
+/. 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.? Unknown g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1 - DMD_010101 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - DNA MLPA - - DMD MD2030 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. 0i_1i c.-244(_-182)_(-182_59)[2] pathogenic (recessive) r.? p.? Unknown 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 - 0 - DNA MLPA - - DMD MD7297 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. 0i_12i c.-244(_-182)_(1403_1602)del pathogenic (recessive) r.? p.(fs*) Unknown g.(32613874_32632499)_(33229611_33357493)del g.(32595757_32614382)_(33211494_33339376)del ex1ex12del, c.-244_1482+?del - DMD_010112 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Dr Silvana Tedeschi
+/. 0i_13i c.-244(_-182)_(1602_1603-7)del pathogenic (recessive) r.? p.0? Unknown 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) - - - 0 - DNA MLPA - - BMD/DMD #214 PubMed: Luce 2016, Journal: Luce2016 - M - Argentina - - 0 - - 1 Florencia Giliberto
+/. 0i_16i c.-244(_-182)_(1852_2085)[0] pathogenic (recessive) r.? p.(fs*) Unknown 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) - - - 0 - DNA MLPA - - BMD/DMD D708 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. 0i_18i c.-244(_-182)_(2226_2293-9)del pathogenic (recessive) r.? p.0? Maternal (confirmed) g.(32519968_32536191)_(33229611_33357493)del g.(32501851_32518074)_(33211494_33339376)del del ex1-18 - DMD_010118 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - 0 - DNA MLPA - - BMD/DMD Pat1298 PubMed: Zimowski 2014 analysis 180 B/DMD families; carrier mother M - Poland - - 0 - - 1 Johan den Dunnen
+/. 0i_6i c.-244(_-182)_(411_558)[0] pathogenic (recessive) r.0? p.0? Unknown g.(32827701_32834704)_(33229611_33357493)del g.(32809584_32816587)_(33211494_33339376)del delDp427m-ex6 - DMD_010106 - PubMed: Tyers 2018 - - Germline/De novo (untested) - - - 0 - DNA MLPA, SEQ, RT-PCR - - DMD 151006A PubMed: Tyers 2018 - M - South Africa - - 0 - - 1 Johan den Dunnen
+/. 0i_7i c.-244(_-182)_(558_831+11)del pathogenic (recessive) r.? p.? Unknown g.(32717218_32827701)_(33229611_33357493)del g.(32699101_32809584)_(33211494_33339376)del del ex1-7 - DMD_010107 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - - - - - India - - 0 - - 1 Shubha R Phadke
+/. 0i_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.? p.? Unknown g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2 - DMD_010102 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - - - - - India - - 0 - - 1 Shubha R Phadke
+/. 0i_2i c.-244(_-182)_(59_128)dup pathogenic (recessive) r.? p.? Unknown g.(32867903_33038290)_(33229611_33357493)dup g.(32849786_33020173)_(33211494_33339376)dup ex1ex2dup, c.-244_93+?dup - DMD_020102 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Vincenzo Nigro
+/. 0i_2i c.-244(_-182)_(59_128)dup pathogenic (recessive) r.? p.? Unknown g.(32867903_33038290)_(33229611_33357493)dup g.(32849786_33020173)_(33211494_33339376)dup ex1ex2dup, c.-244_93+?dup - DMD_020102 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Vincenzo Nigro
+/. 0i_2i c.-244(_-182)_(59_128)[0] pathogenic (recessive) r.? p.(fs*) Unknown g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2; c.(-127947_-245)_(93+1_94-1)del - DMD_010102 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D417 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. 0i_2i c.-244(_-182)_(59_128)[0] pathogenic (recessive) r.0? p.0? Unknown g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex01ex02, c.-244-?_93+?del - DMD_010102 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - Healthy/Control - Neri, submitted 2020, Frontiers in Genetics carrier female F - Italy - - 0 - - 1 Alessandra Ferlini
+/. 0i_2i c.-244(_-182)_(59_128)[0] pathogenic (recessive) r.? p.? Unknown g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2 - DMD_010102 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - DNA MLPA - - DMD MD2724 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. 0i_43i c.-244(_-182)_(6196_6382)[0] pathogenic (recessive) r.? p.? Unknown 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 - 0 - DNA MLPA - - DMD MD0980 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.? p.(fs*) Unknown g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 B. Augello
+/. 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.? p.? Unknown g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Lorena Travaglini
+/. 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.0? p.0? Unknown g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del ex1ex44del, c.-244_6438+?del  - DMD_010144 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Carmela Scuderi
+/. 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.? p.? Maternal (confirmed) g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del del ex1-44 - DMD_010144 - PubMed: Zhang 2019 - - Germline - - - 0 - DNA MLPA - - BMD/DMD Pat30 PubMed: Zhang 2019 patient and carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 0i_45i c.-244(_-182)_(6538_6706)del pathogenic (recessive) r.? p.fs Unknown g.(31950253_31986532)_(33229611_33357493)del g.(31932136_31968415)_(33211494_33339376)del del ex01ex45, c.1-?_6614+?del - DMD_068105 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Filippo Maria Santorelli
+/. 0i_47i c.-244(_-182)_(6810_7018)[0] pathogenic (recessive) r.? p.? Unknown 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 - 0 - DNA MLPA - - DMD MD0136 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. 0i_48i c.-244(_-182)_(7018_7099-10)[0] pathogenic (recessive) r.? p.(fs*) Unknown 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) - - - 0 - DNA MLPA - - BMD/DMD D271 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. 0i_9i c.-244(_-182)_(859_988)del pathogenic (recessive) r.? p.? Unknown g.(32663242_32716088)_(33229611_33357493)del g.(32645125_32697971)_(33211494_33339376)del del ex1-9 - DMD_010109 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - - - - - India - - 0 - - 1 Shubha R Phadke
+/. 0i_9i c.-244(_-182)_(859_988)[0] pathogenic (recessive) r.? p.(fs*) Unknown 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) - - - 0 - DNA MLPA - - BMD/DMD D519 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. 0i_60i c.-244(_-182)_(8968_9118)del pathogenic (recessive) r.? p.? Unknown g.(31366718_31462714)_(33229611_33357493)del g.(31348601_31444597)_(33211494_33339376)del ex1ex60del, c.1-?_9084+?del - DMD_010160 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Lorena Travaglini
+/. 0i_60i c.-244(_-182)_(8968_9118)del pathogenic (recessive) r.? p.? Maternal (confirmed) g.(31366718_31462714)_(33229611_33357493)del g.(31348601_31444597)_(33211494_33339376)del del ex1-60 - DMD_010160 - PubMed: Zhang 2019 - - Germline - - - 0 - DNA MLPA - - BMD/DMD Pat32 PubMed: Zhang 2019 patient and carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 0i_62i c.-244(_-182)_(9187_9246)[0] pathogenic (recessive) r.? p.? Unknown 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 - 0 - DNA MLPA - - DMD MD4223 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. _0_79 c.-244_(*1524_?)[0] pathogenic (recessive) r.0? p.0? Unknown g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del del ex1-79 - DMD_010079 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - 0 - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.? Unknown g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del Dp427c-ex1 - DMD_010001 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - 0 - DNA MLPA, SEQ - - hCK CASE_0225 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier F - Turkey - - 0 - - 1 Güven Toksoy
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.? Maternal (confirmed) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del ex1-promotor - DMD_010001 - PubMed: Garcia-Planells 2009 - - Germline - - - 0 - DNA MLPA - - BMD/DMD - PubMed: Garcia-Planells 2009 patient, carrier mother M - Spain - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.? p.(fs*) Unknown g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D424 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.? p.(fs*) Unknown g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D595 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.? p.0? Unknown g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del Dp427c/ex1, c.(?_-128297)_31+?del - DMD_010001 - PubMed: Rasic 2015 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat01 PubMed: Rasic 2015 analysis intellectual ability 41 DMD patients M - Serbia - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-182_59)[2] pathogenic (recessive) r.? p.? Unknown 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 - 0 - DNA MLPA - - DMD MD8136 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-18[0]2_59)[0] pathogenic (recessive) r.? p.? Unknown 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 - 0 - DNA MLPA - - DMD MD6215 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. _1_1i c.-244_(31+1_32-1)del pathogenic (recessive) r.0? p.0? Unknown g.(33038318_33229398)_(33229673_?)del g.(33020201_33211281)_(33211556_?)del del exPm - DMD_058001 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - 0 - DNA PCRm - - BMD/DMD - PubMed: Zamani 2015 - M - Iran - - 0 - - 1 Johan den Dunnen
+/. _1_1i c.-244_(31+1_32-1)del pathogenic (recessive) r.0? p.0? Unknown g.(33038318_33229398)_(33229673_?)del g.(33020201_33211281)_(33211556_?)del del exPm - DMD_058001 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - 0 - DNA PCRm - - BMD/DMD - PubMed: Zamani 2015 - M - Iran - - 0 - - 1 Johan den Dunnen
+/. _0_39i c.-244_(5449-4_5587-23)[0] pathogenic (recessive) r.? p.(fs*) Unknown 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) - - - 0 - DNA MLPA - - BMD/DMD D432 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. _0_2i c.-244_(59_128)dup pathogenic (recessive) r.? p.? Unknown g.(32867903_33038290)_(33357493_?)dup g.(32849786_33020173)_(33339376_?)dup dup Dp427c-ex2 - DMD_020002 - PubMed: Annexstad 2019 - - Germline - 1/67 cases - 0 - DNA MLPA - - BMD/DMD - PubMed: Annexstad 2019 family, 2 affected boys M - Norway - - 0 - - 2 Johan den Dunnen
+/. _0_2i c.-244_(59_128)[0] pathogenic (recessive) r.? p.(fs*) Unknown g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339376_?)del del Dp427c-ex2; c.-244_(93+1_94-1)del - DMD_010002 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D588 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. _0_2i c.-244_(59_128)[0] pathogenic (recessive) r.? p.? Unknown g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339376_?)del del exDp427c-2 - DMD_010002 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - DNA MLPA - - DMD MD5077 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.? p.(fs*) Unknown g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del del Dp427c-ex44; c.-244_(6438+1_6439-1)del - DMD_010044 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D413 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - 0 - - 1 Chao Ling
+/. _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.? p.? Unknown g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del del exDp427c-44 - DMD_010044 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - 0 - DNA MLPA - - DMD MD7352 PubMed: Guo 2015 analysis 613 cases M - China - - 0 - - 1 Johan den Dunnen
+/. _0_47i c.-244_(6810_7018)[0] pathogenic (recessive) r.0? p.0? Unknown g.(31893385_31947815)_(33357493_?)del g.(31875268_31929698)_(33339376_?)del Dp427cex47del, (c.-244_6912+?del) - DMD_010047 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Milena Cau
+/. _0_9i c.-244_(859_988)del pathogenic (recessive) r.? p.0? Unknown g.(32663242_32716088)_(33357493_?)del g.(32645125_32697971)_(33339376_?)del del Dp427c-ex9 - DMD_010009 - PubMed: Annexstad 2019 - - Germline/De novo (untested) - 1/67 cases - 0 - DNA MLPA - - BMD/DMD - PubMed: Annexstad 2019 analysis 67 unrelated DMD families M - Norway - - 0 - - 1 Johan den Dunnen
+/. _1_2i c.-244_(93+1_94-1)del pathogenic (recessive) r.0? p.0? Unknown g.(32867938_33038255)_(33229673_?)del g.(32849821_33020138)_(33211556_?)del del exPm,1-2 - DMD_058002 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - 0 - DNA PCRm - - BMD/DMD - PubMed: Zamani 2015 - M - Iran - - 0 - - 1 Johan den Dunnen
+/. _0_79_ c.-244_*2691[0] pathogenic (recessive) r.0 p.0 Unknown g.(?_31137345)_(33357493_?)del g.(?_31119228)_(33339376_?)del del gene - DMD_010080 - PubMed: Tyers 2018 - - Germline/De novo (untested) - - - 0 - DNA MLPA, SEQ, RT-PCR - - DMD 151020 PubMed: Tyers 2018 - M - South Africa - - 0 - - 1 Johan den Dunnen
+/. 24 C.3242C>A pathogenic (recessive) r.(?) p.(Ser1081*) Parent #1 g.32482737G>T g.32464620G>T - - DMD_003878 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Vincenzo Nigro
+/. 25i c.3433-2_ 3433-1inv pathogenic (recessive) r.spl p.? Maternal (confirmed) g.32472950_32472951inv - 3433-2_ 3433-1invAG - DMD_003821 - PubMed: Wang 2019 - - Germline - - - 0 - DNA SEQ-NG - - BMD/DMD Pat17 PubMed: Wang 2019 carrier mother M - China Han - 0 - - 1 Johan den Dunnen
+/. 0i_40i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - del ex1-29 ex40 - DMD_030140 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28610567-Pat1 PubMed: Deepha 2017 - M - India - - 0 - - 1 Johan den Dunnen
+/. 3i_69i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - dup ex4-6 ex61-69 - DMD_030469 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD 28610567-Pat132 PubMed: Deepha 2017 - M - India - - 0 - - 1 Johan den Dunnen
+/. 44i_63i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - dup ex45-55 ex63 - DMD_034563 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28610567-Pat93 PubMed: Deepha 2017 - M - India - - 0 - - 1 Johan den Dunnen
+/. 0i_43i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - dup ex1, ex42-43 - DMD_030143 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD ? - - M - Mexico - - 0 - no steroid therapy 1 Luz Berenice Lopez-Hernandez
+/. 0i_43i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - dup ex1, ex42-43 - DMD_030143 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD ? - - M - Mexico - - 0 - no steroid therapy 1 Luz Berenice Lopez-Hernandez
+/. 9i_44i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - dup ex10-44 - DMD_031044 - - - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD ? - - M - Mexico - - 0 - - 1 Luz Berenice Lopez-Hernandez
+/. - c.? pathogenic (recessive) r.? p.? Unknown g.? - del 8-10,21-26 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat20 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? Unknown g.? - dup 3-10,21-29 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat24 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? Unknown g.? - dup 2-4; del 64 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat25 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? Unknown g.? - dup 45; del 8-10,21-30,41 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat26 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. 20 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 2518G>T (Gln840*) - DMD_000000 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BMD/DMD Pat180 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 67 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 9669C>T (Arg3223*Ter) - DMD_000000 - PubMed: Yang 2019 - - Germline - 1/100 cases BMD/DMD - 0 - DNA MLPA, SEQ - - BMD/DMD P88 PubMed: Yang 2019 - M - China - - 0 - - 1 Johan den Dunnen
+/. 21 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 2664C>T (Gln888Ter) - DMD_000000 - PubMed: Yang 2019 - - De novo - 1/100 cases BMD/DMD - 0 - DNA MLPA, SEQ - - BMD/DMD P89 PubMed: Yang 2019 - M - China - - 0 - - 1 Johan den Dunnen
+/. 18 c.? pathogenic (recessive) r.(?) p.(Ala765Cysfs*8) Parent #1 g.? g.? 2292dup7 - USP9X_000005 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - 0 - DNA SEQ - - BMD/DMD - Neri, submitted 2020, Frontiers in Genetics - M - Italy - - 0 - - 1 Monica Traverso
+/. - c.? pathogenic (recessive) - - Maternal (confirmed) g.? g.? - - DMD_000000 non contiguous duplication of exons 45-50, 53, 68, 69, 72,73,75 - - - Germline - - - 0 - DNA MLPA Nil - DMD MDCRC/3473/DBI-2651 - - M no India Indian 17y 0 yes - 1 Lakshmi Bremadesam
-/. _0 c.-202238G>A benign r.(?) p.(=) Parent #1 g.33431667C>T - - - DMD_000933 - Affymetrix-2967194 - - Germline - 0.07 - 0 - - - - - - - - - - - - - - - - - - -
+/. _0_9i c.-244_(960+1_961-1)[0] pathogenic (recessive) r.0? p.0? Unknown g.(32663270_32715986)_(33357726_?)del g.(32645153_32697869)_(33339609_?)del - - DMD_050009 deletion includes DXS1242 (DYSII) - - - Germline - - - 0 - DNA PCRm - - DMD - - - M - France - - 0 - - 1 Mireille Claustres
-?/. _0 c.-128499_-128498del likely benign r.(?) p.(=) Parent #1 g.33357927_33357928del g.33339810_33339811del Dp427c:-545_-547delAG - DMD_002276 - PubMed: Flanigan 2009 - rs72470543 Germline - 1/606 - 0 - DNA PCR, SEQ - - DMD 19937601.p PubMed: Flanigan 2009 - - - United States - - 0 - - 1 Kevin Flanigan
-/. _0 c.-128410A>C benign r.(=) p.(=) Parent #1 g.33357839T>G g.33339722T>G Dp427c:-457A>C - DMD_001882 - PubMed: Flanigan 2009 - rs66718538 Germline - 67/637 - 0 - DNA SEQ - - DMD 19937601.p PubMed: Flanigan 2009 - - - - - - 0 - - 67 Kevin Flanigan
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0? Unknown 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 - - - 0 - DNA MLPA - - MD - Jorge ESHG2006 P1191 - M - Portugal - - 0 - - 2 Johan den Dunnen
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0? Parent #1 g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0? Parent #1 g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
?/. _0_1i c.-244_(-182_59)[2] VUS r.? p.? Maternal (inferred) 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 - - - 0 - DNA MLPA - - DMD - - - M no China Han - 0 - - 1 Jiang Wenting
+/. _0_1i c.-244_(31+1_32-1)[0] pathogenic (recessive) r.0? p.0? Unknown g.(33038318_33229398)_(33357726_?)del g.(33020201_33211281)_(33339609_?)del - - DMD_050001 deletion includes Dp427c - - - Germline - - - 0 - DNA PCRm - - DMD - - - M - Serbia Montenegro - 0 - - 1 Tanja Lalic
+/. _0_1i c.-244_(31+29960_31+30066)[0] pathogenic (recessive) r.0 p.0 Maternal (inferred) 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 - - - 0 - DNA arrayCGH - - MD del1 PubMed: del Gaudio 2008 - M - United States - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.-244_(31+83220_32-1)[0] pathogenic (recessive) r.0 p.0 Unknown g.(33038318_33146179)_(33357726_?)del - Dp427c,Dp427p - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_1i c.-244_(31+83220_32-1)[0] pathogenic (recessive) r.0 p.0 Unknown g.(33038318_33146179)_(33357726_?)del - Dp427c,Dp427p - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_1i c.-244_(31+83220_32-1)[0] pathogenic (recessive) r.0 p.0 Unknown g.(33038318_33146179)_(33357726_?)del - - - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - MD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_2i c.-244_(93+1_94-1)[0] pathogenic (recessive) r.0 p.0 Unknown g.(32867938_33038255)_(33357726_?)del g.(32849821_33020138)_(33339609_?)del Dp427c,Dp427p - DMD_050002 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_7i c.-244_(649+1_650-1)[0] pathogenic (recessive) r.0 p.? Unknown g.(32717411_32827609)_(33357726_?)del g.(32699294_32809492)_(33339609_?)del Dp427c,Dp427p - DMD_050007 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_9i c.-244_(859_988)[2] pathogenic (recessive) r.(?) p.? Parent #1 g.(32663242_32716088)_(33357493_?)dup g.(32645125_32697971)_(33339376_?)dup ex1ex9dup; c.-244_(960+1_961-1)dup - DMD_020009 - - - - Unknown - - - 0 - DNA MLPA - - DMD - - - M - Italy - - 0 - - 1 Alessandra Ferlini
+/+ _0_18i c.-244_(2292+1_2293-1)[0] pathogenic (recessive) r.0? p.0? Unknown g.(32519960_32536124)_(33357726_?)del g.(32501843_32518007)_(33339609_?)del - - DMD_050018 breakpoint within 5 kb centromeric of BB (cell line GM07691B), deletion includes Dp427c PubMed: Brown 1996 - - Unknown - - - 0 - DNA Southern, PCR - - CGDX, MCLDS - PubMed: Brown 1996 - M - - - - 0 - - 1 Johan den Dunnen
+/. _0_18i c.-244_(2292+1_2293-1)[0] pathogenic (recessive) r.0? p.0? Unknown g.(32519960_32536124)_(33357726_?)del g.(32501843_32518007)_(33339609_?)del - - DMD_050018 deletion includes Dp427c PubMed: Stockley 2006 - - Germline - - - 0 - DNA PCRq - - DMD - PubMed: Stockley 2007 - M - Canada - - 0 - - 1 Peter Ray
+/. _0_18i c.-244_(2292+1_2293-1)[0] pathogenic (recessive) r.0? p.0? Parent #1 g.(32519960_32536124)_(33357726_?)del g.(32501843_32518007)_(33339609_?)del del1b-18 - DMD_050018 - PubMed: Kalman 2011 - - Germline - - - 0 - DNA arraySNP, MLPA - - DMD - PubMed: Kalman 2011 - M - - - - 0 - - 1 Johan den Dunnen
+/. _0_18i c.-244_(2292+1_2293-1)[0] pathogenic (recessive) r.0? p.0? Unknown g.(32519960_32536124)_(33357726_?)del g.(32501843_32518007)_(33339609_?)del - - DMD_050018 centrimeric breakpoint close to marker BBJ, deletion includes Dp427c PubMed: Brown - - Germline - - - 0 - DNA Southern, PCR - - CGD, DMD, MCLDS - PubMed: Brown - M - - - - 0 - - 1 Johan den Dunnen
+/. _0_30i c.-244_(4194_4312)[0] pathogenic (recessive) r.0 p.0 Parent #1 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 - - - 0 - DNA MLPA - - MD - PubMed: Piko 2009 - ? - Hungary - - 0 - - 1 Johan den Dunnen
+/. _0_31i c.-244_(4344+1_4345-1)[0] pathogenic (recessive) r.0? p.? Maternal (confirmed) g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 DMD_042217 5711.4 kb deletion PubMed: Arai 2012 - - Germline - - - 0 - DNA arrayCGH - - CGD 22383943-Pat5 PubMed: Arai 2012 carrier mother F - Japan - - 0 - - 1 Johan den Dunnen
+/. _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.0 p.0 Parent #1 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 - - - 0 - DNA MLPA - - MD - PubMed: Piko 2009 - ? - Hungary - - 0 - - 1 Johan den Dunnen
+?/. _0_44i c.-244_(6382_6538)[0] likely pathogenic r.0? p.0? Maternal (confirmed) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del c.-244_(6438+1_6439-1)del - DMD_010044 - - - - Germline - - - 0 - DNA MLPA peripheral blood - BMD/DMD - - - M - Peru - 04y 0 - - 1 Martin Cruz
+/. _0_44i c.-244_(6438+1_6439-1)[0] pathogenic (recessive) r.0 p.0 Unknown g.(31986632_32235032)_(33357726_?)del g.(31968515_32216915)_(33339609_?)del - - DMD_050044 deletion incl. Dp427c - - - Germline - - - 0 - DNA MAPH, PCRm - - DMD - - - M - Turkey - - 0 - - 2 Ayfer Ulgenalp
+/. _0_45i c.-244_(6538_6706)[0] pathogenic (recessive) r.0? p.0? Parent #1 g.(31950253_31986532)_(33357493_?)del g.(31932136_31968415)_(33339376_?)del ex1ex45del; c.-244_(6614+1_6615-1)del - DMD_010045 - - - - Unknown - - - 0 - DNA MLPA - - DMD - - - M - Romania - - 0 - - 1 Alessandra Ferlini
+/. _0_47i c.-244_(6810_7018)[0] pathogenic (recessive) r.0 p.0 Parent #1 g.(31893385_31947815)_(33357493_?)del g.(31875268_31929698)_(33339376_?)del c.-244_(6912+1_6913-1)del - DMD_010047 deletion incl. Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
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