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.

33913 entries on 340 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 3i_79_ c.(128_228)_*2691{0}del r.? p.? Unknown - pathogenic (recessive) g.(?_31137345)_(32862937_32867903)del g.(?_31119228)_(32844820_32849786)del del ex4-79 - DMD_010479 - PubMed: Megarbane 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD - PubMed: Megarbane 2021 - - - Lebanon - - - - - 1 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.? Unknown - pathogenic (recessive) g.(31697577_31728909)_(32130344_32235089)del - c.(6438+1_6439-1)_ 7660+1_7661-1) del - DMD_054552 - PubMed: Aravind 2019, PubMed: Shastry 2021 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - DMD custom capture DMD DMD4/FM17P17a(DMD4)/17b(DMD7) PubMed: Aravind 2019, PubMed: Shastry 2021 3-generation family, 2 affected brothers, carrier mother/sister M - India - - - - - 2 Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.? Unknown - pathogenic (recessive) g.(31697577_31728909)_(32130344_32235089)del - c.(6438+1_6439-1)_ 7660+1_7661-1) del - DMD_054552 - PubMed: Aravind 2019, PubMed: Shastry 2021 - - Germline - - - - - DNA MLPA, SEQ, SEQ-NG - DMD custom capture DMD DMD7 PubMed: Aravind 2019, PubMed: Shastry 2021 brother M - India - - - - - 1 Johan den Dunnen
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.? Unknown - pathogenic (recessive) g.(31036905_31036955)_(31984104_31984154)del g.? del ex46-79 - DMD_038306 947,1kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG saliva - BMD/DMD MED68 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.? Unknown - pathogenic (recessive) g.(31036905_31036955)_(31984104_31984154)del g.? del ex46-79 - DMD_038307 947,1kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG saliva - BMD/DMD MED69 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
+/. 47i_52i c.(6912+1_6913-1)_()del r.? p.? Unknown - pathogenic (recessive) g.(31697577_31743342)_(31944322_31947815)del - - - DMD_068350 - PubMed: Shastry 2021 - - De novo - - - - - DNA MLPA, SEQ, SEQ-NG - DMD custom capture DMD FM20P20(DMD11) PubMed: Shastry 2021 4-generation family, 1 affected, non-carrier mother M - India - - - - - 1 Johan den Dunnen
+/. 9i_79_ c.(960+17577_960+17627)_*2691{0} r.? p.? Unknown - pathogenic (recessive) g.(31137060_31137110)_(32698360_32698410)del g.(32680243_32680293)_(31118943_31118993)del del ex10-79 - DMD_038119 1561,3kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG whole blood - BMD/DMD MED5 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 patient M - (United States) - - - - - 1 Madhuri Hegde
+/. 10i_11i c.(987_1174)_(1174_13834del r.? p.(fs) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32662406_32663243)del g.(32614401_32644289)_(32644289_32645126)del del ex11-11 - DMD_011111 - PubMed: Verma 2012, Journal: Verma 2012 - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD Pat9 PubMed: Verma 2012, Journal: Verma 2012 patient M - India - - - - - 1 Johan den Dunnen
+/. 10i_11i c.(987_1174)_(1174_13834del r.? p.(fs) Unknown - pathogenic (recessive) g.(32632518_32662406)_(32662406_32663243)del g.(32614401_32644289)_(32644289_32645126)del del ex11-11 - DMD_011111 - PubMed: Verma 2012, Journal: Verma 2012 - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD Pat10 PubMed: Verma 2012, Journal: Verma 2012 patient M - India - - - - - 1 Johan den Dunnen
+/. _1_79 c.(?_-183)_(*1524_?){0} r.? p.? Unknown - pathogenic (recessive) g.(?_31138513)_(33229612_?)del g.(?_31120396)_(33211495_?)del del ex1-79 - DMD_018079 - PubMed: Yamputchong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD - PubMed: Yamputchong 2020 - M - Thailand - - - - - 1 Johan den Dunnen
+/. 0i_1i c.-241_(31+1_32-1){0} r.? p.? Unknown - pathogenic (recessive) g.(33038290_33122034)_(33245415_33357493)del - - - DMD_068359 - PubMed: Shastry 2021 - - De novo - - - - - DNA MLPA, SEQ, SEQ-NG - DMD custom capture DMD FM10P10(DMD36) PubMed: Shastry 2021 2-generation family, 1 affected, non-carrier mother M - India - - - - - 1 Johan den Dunnen
+/. 0i_1i c.-244(_-182)_(-182_59){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339377)del del ex1; c.(-127947_-245)_(31+1_32-1)del - DMD_046507 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D306 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del del ex1-79; c.(-127947_-245)_*2691del - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D174 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del del ex1-79; c.(-127947_-245)_*2691del - DMD_010179 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D657 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.0? p.0? Unknown - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del ex1ex79del, c.-244_*2691del  - DMD_010179 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - F - Italy - - - - - 1 Carmela Scuderi
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)dup r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_33211494_33339376)dup del ex1 - DMD_020101 - PubMed: Zamani 2022, Journal: Zamani 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Zamani 2022, Journal: Zamani 2022 - M - Iran - - - - - 1 Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.(?_-244)_31+?del - DMD_010101 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.-244_31+?del - DMD_010101 - - - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - - - F - Italy - - - - - 1 Emiliano Giardina
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del ex1del, c.1-?_31+?del - DMD_010101 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD2030 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0100 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)del g.(33020174_33211495)_(33211495_33339377)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0148 PubMed: Toksoy 2019 family, several affected, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 0i_1i c.-244(_-183)_(-183_58){2} r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup dup ex1 and dup ex3-16 - DMD_020101 non-contiguous duplication ex1 and duplication ex3-16 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7297 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_12i c.-244(_-183)_(1384_1601){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(32613875_32632518)_(33229612_33357494)del g.(32595758_32614401)_(33211495_33339377)del ex1ex12del, c.-244_1482+?del - DMD_010112 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Dr Silvana Tedeschi
+/. 0i_13i c.-244(_-183)_(1601_1603-8){0} r.? p.0? Unknown - pathogenic (recessive) g.(32591971_32613875)_(33229612_33357494)del g.(32573854_32595758)_(33211495_33339377)del del ex1-13 - DMD_010113 - PubMed: Luce 2016, Journal: Luce2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #214 PubMed: Luce 2016, Journal: Luce2016, PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 0i_16i c.-244(_-183)_(1851_2084){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(32563360_32583960)_(33229612_33357494)del g.(32545243_32565843)_(33211495_33339377)del del ex1-16; c.(-127947_-245)_(1992+1_1993-1)del - DMD_010116 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D708 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_18i c.-244(_-183)_(2225_2293-10){0} r.? p.0? Maternal (confirmed) - pathogenic (recessive) g.(32519969_32536192)_(33229612_33357494)del g.(32501852_32518075)_(33211495_33339377)del del ex1-18 - DMD_010118 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1298 PubMed: Zimowski 2014 analysis 180 B/DMD families; carrier mother M - Poland - - - - - 1 Johan den Dunnen
+/. 0i_6i c.-244(_-183)_(410_557){0} r.0? p.0? Unknown - pathogenic (recessive) g.(32827702_32834705)_(33229612_33357494)del g.(32809585_32816588)_(33211495_33339377)del delDp427m-ex6 - DMD_010106 - PubMed: Tyers 2018 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, RT-PCR - - DMD 151006A PubMed: Tyers 2018 - M - South Africa - - - - - 1 Johan den Dunnen
+/. 0i_2i c.-244(_-183)_(58_127){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)del g.(32849787_33020174)_(33211495_33339377)del del ex1-2; c.(-127947_-245)_(93+1_94-1)del - DMD_010102 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D417 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_2i c.-244(_-183)_(58_127){0} r.0? p.0? Unknown - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)del g.(32849787_33020174)_(33211495_33339377)del del ex01ex02, c.-244-?_93+?del - DMD_010102 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - PubMed: Neri 2020, Journal: Neri 2020 carrier female F - Italy - - - - - 1 Alessandra Ferlini
+/. 0i_2i c.-244(_-183)_(58_127){0} r.? p.? Unknown - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)del g.(32849787_33020174)_(33211495_33339377)del del ex1-2 - DMD_010102 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD2724 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.? Unknown - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)dup g.(32849787_33020174)_(33211495_33339377)dup ex1ex2dup, c.-244_93+?dup - DMD_020102 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.? Unknown - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)dup g.(32849787_33020174)_(33211495_33339377)dup ex1ex2dup, c.-244_93+?dup - DMD_020102 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+?/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.? Unknown - likely pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)dup g.(32849787_33020174)_(33211495_33339377)dup dup ex1-2 - DMD_020102 - PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kohli 2020 analysis 1660 BMD/DMD patients M - India - - - - - 1 Sudha Kohli
+/. 0i_43i c.-244(_-183)_(6195_6381){0} r.? p.? Unknown - pathogenic (recessive) g.(32235090_32305741)_(33229612_33357494)del g.(32216973_32287624)_(33211495_33339377)del del ex1-43 - DMD_010143 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0980 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.? Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.0? p.0? Unknown - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.-244_6438+?del  - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Carmela Scuderi
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del del ex1-44 - DMD_010144 - PubMed: Zhang 2019 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat30 PubMed: Zhang 2019 patient and carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 0i_47i c.-244(_-183)_(6809_7017){0} r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(33229612_33357494)del g.(31875269_31929699)_(33211495_33339377)del del ex1-47 - DMD_010147 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0136 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 0i_48i c.-244(_-183)_(7017_7099-11)del r.? p.? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_48i c.-244(_-183)_(7017_7099-11){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(31854947_31893386)_(33229612_33357494)del g.(31836830_31875269)_(33211495_33339377)del del ex1-48; c.(-127947_-245)_(7098+1_7099-1)del - DMD_010148 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D271 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
./. 0i_55i c.-244(_-183)_(8068_8390+10){0} r.? p.? Unknown - pathogenic (recessive) g.(31525388_31645939)_(33229612_33357494)del g.(31507271_31627822)_(33211495_33339377)del del ex1-55 - DMD_010055 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 0i_9i c.-244(_-183)_(858_987)del r.? p.? Unknown - 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) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 0i_9i c.-244(_-183)_(858_987){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(32663243_32716089)_(33229612_33357494)del g.(32645126_32697972)_(33211495_33339377)del del ex1-9; c.(-127947_-245)_(960+1_961-1)del - DMD_010109 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D519 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 0i_60i c.-244(_-183)_(8967_9117){0} r.? p.? Unknown - pathogenic (recessive) g.(31366719_31462715)_(33229612_33357494)del g.(31348602_31444598)_(33211495_33339377)del ex1ex60del, c.1-?_9084+?del - DMD_010160 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 0i_60i c.-244(_-183)_(8967_9117){0} r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31366719_31462715)_(33229612_33357494)del g.(31348602_31444598)_(33211495_33339377)del del ex1-60 - DMD_010160 - PubMed: Zhang 2019 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat32 PubMed: Zhang 2019 patient and carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 0i_62i c.-244(_-183)_(9186_9245){0} r.? p.? Unknown - pathogenic (recessive) g.(31279113_31341753)_(33229612_33357494)del g.(31260996_31323636)_(33211495_33339377)del del ex1m-62 - DMD_010162 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD4223 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. _0_79 c.-244_(*1524_?){0} r.0? p.0? Unknown - pathogenic (recessive) g.(?_31138513)_(33357494_?)del g.(?_31120396)_(33339377_?)del del ex1-79 - DMD_010079 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-182_59){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339377)_(33339377_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D424 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. _0_1i c.-244_(-182_59){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(33038290_33357493)_(33357493_?)del g.(33020173_33339377)_(33339377_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D595 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. _0_1i c.-244_(-182_59){0} r.? p.0? Unknown - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339377_?)del del Dp427c/ex1, c.(?_-128297)_31+?del - DMD_010001 - PubMed: Rasic 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat01 PubMed: Rasic 2015 analysis intellectual ability 41 DMD patients M - Serbia - - - - - 1 Johan den Dunnen
./. _0_1i c.-244_(-182_59){0} r.? p.? Unknown - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339377_?)del del exDp427c-1 - DMD_010001 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
./. _0_1i c.-244_(-182_59){0} r.? p.? Unknown - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339377_?)del del exDp427c-1 - DMD_010001 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. _0_1i c.-244_(-183_58){2} r.? p.? Unknown - pathogenic (recessive) g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)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 - - - DNA MLPA - - DMD MD8136 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
-?/. _0_1i c.-244_(-183_58){2} r.? p.? Unknown - likely benign g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup ex1 - DMD_020001 - PubMed: Cohen 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - PubMed: Cohen 2022 analysis 12,362 females for DMD F - Israel Jew-Bukhara - - - - 1 Johan den Dunnen
-?/. _0_1i c.-244_(-183_58){2} r.? p.? Unknown - likely benign g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup ex1 - DMD_020001 - PubMed: Cohen 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - PubMed: Cohen 2022 analysis 12,362 females for DMD F - Israel Jew-Bukhara - - - - 1 Johan den Dunnen
-?/. _0_1i c.-244_(-183_58){2} r.? p.? Unknown - likely benign g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup ex1 - DMD_020001 - PubMed: Cohen 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - PubMed: Cohen 2022 analysis 12,362 females for DMD F - Israel Jew-Ashkenazi - - - - 1 Johan den Dunnen
-?/. _0_1i c.-244_(-183_58){2} r.? p.? Unknown - likely benign g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup ex1 - DMD_020001 - PubMed: Cohen 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - Healthy/Control - PubMed: Cohen 2022 analysis 12,362 females for DMD F - Israel Jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-18{0}2_59){0} r.? p.? Unknown - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339377_?)del del exDp427c-1 - DMD_010001 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD6215 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
./. _0_17i c.-244_(2085_2226){0} r.? p.? Unknown - pathogenic (recessive) g.(32536191_32563359)_(33357493_?)del g.(32518074_32545242)_(33339377_?)del del exDp427c-17 - DMD_010017 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. _1_ c.-244_(31+1_94-1){0} r.? p.? Unknown - pathogenic (recessive) g.(33229673_?)_(32867938_33229398)del g.(33211556_?)_(32849821_33211281)del mPCR del ex1 - DMD_068580 - PubMed: El Kadiri 2020 - - Germline/De novo (untested) - - - - - DNA PCRm - - BMD/DMD - PubMed: El Kadiri 2020 - M - Morocco - - - - - 1 Johan den Dunnen
+/. _0_39i c.-244_(5449-4_5587-23){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(32361426_32364201)_(33357493_?)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) - - - - - DNA MLPA - - BMD/DMD D432 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. _0_2i c.-244_(59_128){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339377_?)del del Dp427c-ex2; c.-244_(93+1_94-1)del - DMD_010002 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D588 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. _0_2i c.-244_(59_128){0} r.? p.? Unknown - pathogenic (recessive) g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339377_?)del del exDp427c-2 - DMD_010002 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD5077 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
./. 0i_2i c.-244_(59_128){0} r.? p.? Unknown - pathogenic (recessive) g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339377_?)del del ex1-2 - DMD_010002 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. _0_44i c.-244_(6382_6538){0} r.? p.(fs*) Unknown - pathogenic (recessive) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339377_?)del del Dp427c-ex44; c.-244_(6438+1_6439-1)del - DMD_010044 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D413 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. _0_44i c.-244_(6382_6538){0} r.? p.? Unknown - pathogenic (recessive) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339377_?)del del exDp427c-44 - DMD_010044 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7352 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. _0_7i c.-244_(649+1_650-1){2} r.? p.? Unknown - 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 - - - DNA MLPA, SEQ, SEQ-NG - WES ? Neo_1 PubMed: Xiao 2021 DMD gene analysis 10,481 NICU patients age was less than 28 days; no family history - - China - - - - - 1 Johan den Dunnen
+/. _0_7i c.-244_(649+1_650-1){2} r.? p.? Unknown - 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 - - - DNA MLPA, SEQ, SEQ-NG - WES ? Neo_17 PubMed: Xiao 2021 DMD gene analysis 10,481 NICU patients age was less than 28 days; no family history - - China - - - - - 1 Johan den Dunnen
+/. _0_47i c.-244_(6810_7018){0} r.0? p.0? Unknown - pathogenic (recessive) g.(31893385_31947815)_(33357493_?)del g.(31875268_31929698)_(33339377_?)del Dp427cex47del, (c.-244_6912+?del) - DMD_010047 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Milena Cau
+/. _0_60i c.-244_(8967_9117){0} r.? p.0? Unknown - pathogenic (recessive) g.(31366719_31462715)_(33357494_?)del g.(31348602_31444598)_(33339377_?)del del ex1-60 - DMD_010060 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - 29-gene panel MD P30 PubMed: Patel 2021 patient M - India India-W - - - - 1 Johan den Dunnen
+/. _0_2i c.-244_(93+17277_93+17327){2} r.? p.? Unknown - likely pathogenic (recessive) g.(33020929_33020979)_(33439454_33439504)dup g.? dup ex1-2 - DMD_038030 418,5kb duplication PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG saliva - BMD/DMD CTDUP308 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 carrier female F - (United States) - - - - - 1 Madhuri Hegde
+/. _0_2i c.-244_(93+1_94-1){2} r.? p.? Unknown - 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 - - - DNA MLPA, SEQ, SEQ-NG - WES ? Neo_7 PubMed: Xiao 2021 DMD gene analysis 10,481 NICU patients age was less than 28 days; no family history - - China - - - - - 1 Johan den Dunnen
+/. _0_79_ c.-244_*2691{0} r.0 p.0 Unknown - pathogenic (recessive) g.(?_31137345)_(33357493_?)del g.(?_31119228)_(33339377_?)del del gene - DMD_010080 - PubMed: Tyers 2018 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, RT-PCR - - DMD 151020 PubMed: Tyers 2018 - M - South Africa - - - - - 1 Johan den Dunnen
+/. _0_79_ c.-244_*2691{0} r.0? p.? Unknown - pathogenic (recessive) g.(30858832_30858882)_(35229274_35229324)del g.? del ex1-79 - DMD_038031 4370,4kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG saliva - BMD/DMD CTD235 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 carrier female F - (United States) - - - - - 1 Madhuri Hegde
+/. _0_79_ c.-244_*2691{0} r.0? p.? Unknown - pathogenic (recessive) g.(30858832_30858882)_(35229274_35229324)del g.? del ex1-79 - DMD_038032 4370,4kb deletion PubMed: Nallamilli 2021, Journal: Nallamilli 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG saliva - BMD/DMD CTD236 PubMed: Nallamilli 2021, Journal: Nallamilli 2021 carrier female F - (United States) - - - - - 1 Madhuri Hegde
./. _0_0i c.-244_-244(_-182)del r.? p.? Parent #1 - VUS (!) g.(33229611_33357493)_(33357493_?)del g.(33211494_33339377)_(33339377_?)del del ex14 & Dp427c - DMD_038446 non-contiguous deletion DP427c and 14 - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. _0_1i c.-244__(-182_59){0} r.? p.? Unknown - pathogenic (recessive) g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339377_?)del del Dp427c-ex1 - DMD_010001 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - DMD Pat33 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. _0_29i c.-244__(3991_4194)del r.? p.? Unknown - pathogenic (recessive) g.(32429908_32456438)_(33357493_?)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 - - - DNA MLPA - - DMD DMD-80 PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 analysis 152 BMD/DMD cases M - Peru - - - - - 1 Maria Luisa Guevara Gil
+/. _0_2i c.-244__(59_128)del r.? p.? Unknown - pathogenic (recessive) g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339377_?)del del ex Dp427c-2; c.-128297_93+?del - DMD_010002 - PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 - - Germline - 1/152 cases - - - DNA MLPA - - DMD DMD-132 PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 analysis 152 BMD/DMD cases M - Peru - - - - - 1 Maria Luisa Guevara Gil
+/. _0_2i c.-244__(59_128)del r.? p.? Unknown - pathogenic (recessive) g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339377_?)del del exDp427c-2; c.-128297_93+?del - DMD_010002 - PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 - - Germline - 1/152 cases - - - DNA MLPA - - DMD DMD-202 PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 analysis 152 BMD/DMD cases M - Peru - - - - - 1 Maria Luisa Guevara Gil
+/. _0_2i c.-244__(59_128){0} r.? p.0? Unknown - pathogenic (recessive) g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339377_?)del del ex1-2 c.1_93del - DMD_010002 - PubMed: Triana-Fonseca 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Triana-Fonseca 2021 - M - Colombia - - - - - 1 Johan den Dunnen
+/. _0_43i c.-244__(6196_6382){0} r.? p.0? Unknown - pathogenic (recessive) g.(32235089_32305740)_(33357493_?)del g.(32216972_32287623)_(33339377_?)del del ex1-43 c.1_6290del - DMD_010043 - PubMed: Triana-Fonseca 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Triana-Fonseca 2021 - M - Colombia - - - - - 1 Johan den Dunnen
+/. _0_44i c.-244__(6382_6538)del r.? p.? Unknown - pathogenic (recessive) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339377_?)del del exDp427c-44; c.-128297_6438+?)del - DMD_010044 - PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 - - Germline - 1/152 cases - - - DNA MLPA - - BMD/DMD DMD-133 PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 analysis 152 BMD/DMD cases M - Peru - - - - - 1 Maria Luisa Guevara Gil
+/. _0_51i c.-244__(7423_7629){0} r.? p.? Unknown - pathogenic (recessive) g.(31747779_31792196)_(33357493_?)del g.(31729662_31774079)_(33339377_?)del del Dp427c-ex51 - DMD_010051 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - DMD Pat213 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 0i_7i c.?_(650-20770_650-20613)del r.0? p.0? Maternal (confirmed) - pathogenic (recessive) g.(32738023_32738180)_(33334020_33334224)del - hg18 (32647944_32648101)_(33243941_33244145)del - DMD_040264 - PubMed: Oshima 2009 - - Germline - - - - - DNA arrayCGH, MLPA, Southern - - - 19449031-PatCo3 PubMed: Oshima 2009 familial case, carrier mother M - United States - - - - - 1 Johan den Dunnen
+/+ _79_ c.?_(11047-1_*1)del r.(del?) p.(del?) Maternal (confirmed) - pathogenic (recessive) g.(30700000_30765000)_(31121918_31465000)del - - - DMD_040261 658 kb deletion incl. GKD_3'DMD L Medne ASHG 2010 A1669 - - Germline - - - - - DNA arrayCGH, arraySNP - - GKD - L Medne ASHG 2010 A1669 younger brother of A1669Pat5 M - - - - - - - 1 Johan den Dunnen
+/. - c.?C>T r.(?) p.(?) Parent #1 - pathogenic (recessive) g.? g.? 4279C>T - DMD_025973 - PubMed: Shen 2006 - - Germline - - - - - DNA DHPLC - - DMD - PubMed: Shen 2006 - M - China - - - - - 1 Johan den Dunnen
-/. 50i_53i c.?_?ins7309+8773_7872+5326 r.0 p.0 Maternal (confirmed) - benign g.?_?ins31692166_31829319 g.?_?ins31674049_31811202 ex51-53[3], ex64-79[3], intron55[2] - DMD_068544 2nd extra copy ex51-53, inserted at unknown genomic position Journal: He 2022 - - Germline - - - - - DNA MLPA, OM, PCR, PCRq, SEQ - - Healthy/Control family PubMed: He 2022, Journal: He 2022 3-generation family, unaffected carrier grandfather, mother son. F;M no China - - - - - 3 Johan den Dunnen
-/. - c.?_?ins[9286+704_*2691{2};8217+56784_8218-5685;7309+8773_7872+5326;9286+704_*2691{2}] r.0 p.0 Maternal (confirmed) - benign g.?_?ins[30898895_31278368;31692166_31829319;31531255_31589006;30898895_31278368] g.?_?ins[30880778_31260251;31674049_31811202;31513138_31570889;30880778_31260251] ex51-53[3], ex64-79[3], intron55[2] - DMD_068543 complex non-contiguous rearrangement DMD gene, not affecting the normal gene copy; site of insertion not reported PubMed: He 2022, Journal: He 2022 - - Germline - - - - - DNA MLPA, OM, PCR, PCRq, SEQ - - Healthy/Control family PubMed: He 2022, Journal: He 2022 3-generation family, unaffected carrier grandfather, mother son. F;M no China - - - - - 3 Johan den Dunnen
+?/. _0_1i c.(?_-989604)_(31+79696_32-1)dup r.(?) p.(?) Unknown - pathogenic (recessive) g.33149703_34219033dup - - - DMD_046511 Patient carrying a discontinuous duplication - - - Unknown - - - - - DNA arrayCGH, MLPA blood - autism, DMD - PubMed: Luce 2021 Patient carrying a discontinuous duplication M no Argentina - >08y - - - 1 Florencia Giliberto
-/. _0 c.-202238G>A r.(?) p.(=) Parent #1 - benign g.33431667C>T g.33413550C>T - - DMD_000933 - Affymetrix-2967194 - - Germline - 0.07 - - - - - - - - - - - - - - - - - - - - -
+/. _0_9i c.-244_(960+1_961-1){0} r.0? p.0? Unknown - pathogenic (recessive) g.(32663270_32715986)_(33357726_?)del g.(32645153_32697869)_(33339609_?)del - - DMD_050009 deletion includes DXS1242 (DYSII) - - - Germline - - - - - DNA PCRm - - DMD - - - M - France - - - - - 1 Mireille Claustres
-?/. _0 c.-128499_-128498del r.(?) p.(=) Parent #1 - likely benign g.33357931_33357932del g.33339814_33339815del Dp427c:-545_-547delAG - DMD_002276 - PubMed: Flanigan 2009 - rs72470543 Germline - 1/606 - - - DNA PCR, SEQ - - DMD 19937601.p PubMed: Flanigan 2009 - - - United States - - - - - 1 Kevin Flanigan
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