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.

18338 entries on 184 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     
+/. 1i_79_ c.(-182_59)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) Unknown g.(?_31138512)_(33038290_33229611)del g.(?_31120395)_(33020173_33211494)del del ex2-79; c.(31+1_32-1)_*2691del - DMD_010279 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D425 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) Unknown g.(?_31138512)_(31838078_31854946)del g.(?_31120395)_(31819961_31836829)del del ex50-79; c.(7200+1_7201-1)_*2691[0] - DMD_015079 - PubMed: Tomar 2019 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Case 81 PubMed: Tomar 2019 - M - Singapore - - 0 - - 1 Poh San Lai
+/. 67i_79_ c.(9779_9857)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) Unknown g.(?_31138512)_(31200972_31222106)del g.(?_31120395)_(31182855_31203989)del del ex68-79; c.(9807+1_9808-1)_*2691del - DMD_016879 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D615 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. 0i_79_ c.-244(_-182)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) Unknown g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del del ex1-79; c.(-127947_-245)_*2691del - chrX_014543 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D174 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. 0i_79_ c.-244(_-182)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) Unknown g.(?_31138512)_(33229611_33357493)del g.(?_31120395)_(33211494_33339376)del del ex1-79; c.(-127947_-245)_*2691del - chrX_014543 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D657 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. 0i_1i c.-244(_-182)_(-182_59)del 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 - chrX_014545 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D306 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. 0i_16i c.-244(_-182)_(1852_2085)del 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 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D708 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. 0i_2i c.-244(_-182)_(59_128)del 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 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D417 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. 0i_48i c.-244(_-182)_(7018_7099-10)del 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 - chrX_014544 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D271 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. 0i_9i c.-244(_-182)_(859_988)del 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 - chrX_014546 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D519 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.(fs*) Unknown g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D424 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.(fs*) Unknown g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del - DMD_010001 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D595 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. _0_39i c.-244_(5449-4_5587-23)del pathogenic (recessive) r.? p.(fs*) Unknown g.(32361426_32364201)_(33229611_?)del g.(32343309_32346084)_(33211494_?)del del Dp427c-ex39; c.-244_(5586+1_5587-1)del - DMD_010039 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D432 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. _0_2i c.-244_(59_128)del pathogenic (recessive) r.? p.(fs*) Unknown g.(32867903_33038290)_(33229611_?)del g.(32849786_33020173)_(33211494_?)del del Dp427c-ex2; c.-244_(93+1_94-1)del - DMD_010002 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D588 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. _0_44i c.-244_(6382_6538)del pathogenic (recessive) r.? p.(fs*) Unknown g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del del Dp427c-ex44; c.-244_(6438+1_6439-1)del - DMD_010044 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D413 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. 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
+/. _1_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
+/. 12i_51i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - del ex13 and 46-51 - DMD_031351 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 2i_8i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - del ex3, 6, 8 - DMD_030308 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 47i_51i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - del ex48, 49, 51 - DMD_034851 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 16i_46i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - del ex17-20 / 37-40 / 45-46 - DMD_031746 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. _1_43i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - del ex1-29 / dup ex37-43 - DMD_030143 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 39i_53i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - dup ex40 / del ex45-53 - DMD_034053 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 51i_79_ c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - dup ex52-60 / 68-79 - DMD_035280 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. 55i_71i c.? pathogenic (recessive) r.? p.? Maternal (inferred) g.? - dup ex56-60 / 62-71 - DMD_035671 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - 0 - - 1 Johan den Dunnen
+/. _1_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
+/. _1_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 - USP9X_000005 - 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 - USP9X_000005 - 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 - USP9X_000005 - 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 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD Pat26 PubMed: Wang 2014 - M - China - - 0 - - 1 Johan den Dunnen
+/. 56 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 8475G>A (Trp2915*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - DMD Pat27 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 33 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 4567G>T (Glu1523*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - DMD Pat61 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 17 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 2006T>C (Val669*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - BMD/DMD Pat71 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 16 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 1938T>A (Cys646*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat74 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 12 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 1339C>T (Gly447*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat75 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 1255C>T (Gln419*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat86 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 10 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - c.984C>T (Arg1662*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat107 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 18 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - c.2260C>T (Arg754*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat109 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 7 c.? pathogenic (recessive) r.(?) p.? Maternal (inferred) g.? - 541C>T (Gln181*) - USP9X_000005 - PubMed: Ma 2018 - - De novo - - - 0 - DNA SEQ - - DMD Pat118 PubMed: Ma 2018 mother not carrier M - China - - 0 - - 1 Johan den Dunnen
+/. 25 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 3061C>T (Gln1021*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat120 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 2 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 77A>G (Asn26*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat123 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 25 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 3028G>T (Glu1010*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - BMD/DMD Pat124 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 1305G>A (Ser443*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - DMD Pat130 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 7 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 559C>T (Gln187*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat143 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 23 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 3034delC (Ser1012Leufs*32) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - DMD Pat174 PubMed: Ma 2018 carrier status mother not known M - China - - 0 - - 1 Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? Maternal (inferred) g.? - 1305G>A (Ser443*) - USP9X_000005 - PubMed: Ma 2018 - - De novo - - - 0 - DNA SEQ - - DMD Pat175 PubMed: Ma 2018 mother not carrier M - China - - 0 - - 1 Johan den Dunnen
+/. 20 c.? pathogenic (recessive) r.(?) p.? Unknown g.? - 2518G>T (Gln840*) - USP9X_000005 - 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
+/. 11 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 1255C>T (Gln419*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat185 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 35 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 4561G>T (Glu1523*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat191 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 18 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 2260C>T (Arg754*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat193 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 10 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 984C>T (Arg1662*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat195 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. 33 c.? pathogenic (recessive) r.(?) p.? Maternal (confirmed) g.? - 4587del (Lys1529Asnfs*13) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - DNA SEQ - - DMD Pat197 PubMed: Ma 2018 carrier mother M - China - - 0 - - 1 Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.(del) Unknown g.? - non-contiguous del ex45-47 and dup ex51-52 - USP9X_000005 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D67 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. - c.? pathogenic (recessive) r.? p.(fs*) Unknown g.? - non-contiguous del ex22 and dup ex8-11 - USP9X_000005 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D721 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
+/. - c.? pathogenic (recessive) r.? p.(fs*) Unknown g.? - non-contiguous dup ex5-7 and ex17-42 - USP9X_000005 - Ling 2019, submitted - - Germline/De novo (untested) - - - 0 - DNA MLPA - - BMD/DMD D876 Ling 2019, submitted - M - China - - 0 - - 1 Chao Ling
?/. _0_1i c.(?_-989604)_(31+79696_32-1)dup VUS r.? p.? Maternal (confirmed) g.33149703_34219033dup - 33,149,703-34,219,033dup - DMD_046438 duplication brain/muscle promoter unknown consequences - - - Germline - - - 0 - DNA arrayCGH - - ? - email carrier mother/sister and fetus - - Sweden - - 0 - - 1 Johan den Dunnen
-/. _0 c.-202238G>A benign r.(?) p.(=) Parent #1 g.33431667C>T - - - DMD_000933 - Affymetrix-2967194 - - Germline - 0.07 - 0 - - - - - - - - - - - - - - - - - - -
+/. _0_9i c.-244_(859_988)del pathogenic (recessive) r.0? p.0? Unknown g.(32663242_32716088)_(33229611_?)del g.(32645125_32697971)_(33211494_?)del c.-244_(960+1_961-1)del - DMD_010009 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_0i c.-244_(-128064_-182)dup VUS r.? p.? Maternal (confirmed) g.(33229611_33357493)_(33229611_?)dup g.(33211494_33339376)_(33211494_?)dup c.-244_(-127947_-245)dup - DMD_020000 - - - - Germline - - - 0 - DNA MLPA - - ? ? - son and carrier mother F;M - - - - 0 - - 2 Johan den Dunnen
?/. _0_0i c.-244_(-128064_-182)del VUS r.? p.? Unknown g.(33229611_33357493)_(33229611_?)del g.(33211494_33339376)_(33211494_?)del c.-244_(-127947_-245)del - DMD_010000 deletion Dp427c (brain) promoter only - - - Unknown - - - 0 - DNA PCR - - DMD - - - M - United States - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del pathogenic (recessive) r.0 p.0 Unknown g.(33038318_33146179)_(33357726_?)del - - - DMD_040258 deletion incl. Dp427c, Dp427p - - - Germline - - - 0 - DNA MAPH, PCRm - - DMD - - - M - Turkey - - 0 - - 1 Ayfer Ulgenalp
+/. _0_1i c.(?_-128297)_(31+83220_32-1)del 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.(?_-128297)_(31+83220_32-1)del 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.(?_-128297)_(31+83220_32-1)del 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_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0? Unknown g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)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)del pathogenic (recessive) r.0? p.? Maternal (inferred) g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del chrX:g.(33109254_33109360)_(33268716_38091392)del; c.-244_(31+1_32-1)del - DMD_010001 159.4 Kb deletion PubMed: delGaudio 2008 - - Germline - - - 0 - DNA arrayCGH - - MD - PubMed: delGaudio 2008 - M - United States - - 0 - - 1 Johan den Dunnen
+/. _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0? Parent #1 g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)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)del pathogenic (recessive) r.0? p.0? Parent #1 g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)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)del pathogenic (recessive) r.0? p.0? Unknown g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - DNA PCRm - - DMD - - - M - Serbia Montenegro - 0 - - 1 Tanja Lalic
?/. _0_1i c.-244_(-182_59)dup VUS r.? p.? Maternal (inferred) g.(33038290_33229611)_(33229611_?)dup g.(33020173_33211494)_(33211494_?)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_2_ c.[(?_-24528297)_(-127947_-245)dup;(31+1_32-1)_(93+1_94-1)dup] pathogenic (recessive) r.? p.? Maternal (inferred) g.[(32867938_33038255)_(33038318_33229398)dup;(33229674_33357376)_(33357726_?)dup] - - - DMD_030002 non-contiguous duplication exon Dp427c and exon 2 PubMed: Tuffery-Giraud 2009, UMD 2612 database - - Germline - - - 0 - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2612 database - M - France - - 0 - - 1 Johan den Dunnen
+/. _0_2i c.-244_(59_128)del pathogenic (recessive) r.0 p.0 Unknown g.(32867903_33038290)_(33229611_?)del g.(32849786_33020173)_(33211494_?)del Dp427c,Dp427p; c.-244_(93+1_94-1)del - DMD_010002 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_7_ c.[(?_-128297)_(-127947_?)dup; (31+1_32-1)_(649+1_650-1)dup] pathogenic (recessive) r.(?) p.? Parent #1 g.? - chrX:g.[(33256170_33256641)_(33268673_33268775)dup; (32711863_32712214)_(33111518_33111742)dup] - DMD_030007 non-contiguous duplication exons 1c (12 Kb) and 1m-7 (399 Kb) PubMed: delGaudio 2008 - - Germline - - - 0 - DNA arrayCGH, MLPA - - MD - PubMed: delGaudio 2008 carrier female F - United States - - 0 - - 1 Johan den Dunnen
+/. _0_7i c.-244_(558_831+11)del pathogenic (recessive) r.0 p.? Unknown g.(32717218_32827701)_(33229611_?)del g.(32699101_32809584)_(33211494_?)del Dp427c,Dp427p; c.-244_(649+1_650-1)del - DMD_010007 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - 0 - DNA PCR - - DMD - PubMed: Flanigan 2009 - M - United States - - 0 - - 1 Kevin Flanigan
+/. _0_9_ c.[(?_-128297)_(31+1_32-1)dup; (93+1_94-1)_(960+1_961-1)dup] pathogenic (recessive) r.? p.? Maternal (confirmed) g.? - - - DMD_030009 erroneously reported as non-contiguous deletion of exons Dp427c-11 excl. exon 2 (correct is duplication exons Dp427c-9 excl. exon 2) PubMed: Schwartz 2004 - - Germline - - - 0 - DNA MLPA - - MD - PubMed: Schwartz 2004 - M - Denmark - - 0 - - 2 Marianne Schwartz
+/. _0_9i c.-244_(859_988)dup pathogenic (recessive) r.(?) p.? Parent #1 g.(32663242_32716088)_(33229611_?)dup g.(32645125_32697971)_(33211494_?)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_(2226_2293-9)del pathogenic (recessive) r.0? p.0? Unknown g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del c.-244_(2292+1_2293-1)del - DMD_010018 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_(2226_2293-9)del pathogenic (recessive) r.0? p.0? Unknown g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del c.-244_(2292+1_2293-1)del - DMD_010018 deletion includes Dp427c PubMed: Stockley 2007 - - Germline - - - 0 - DNA PCRq - - DMD - PubMed: Stockley 2007 - M - Canada - - 0 - - 1 Peter Ray
+/. _0_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0? Parent #1 g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del del1b-18; c.-244_(2292+1_2293-1)del - DMD_010018 - PubMed: Kalman 2011 - - Germline - - - 0 - DNA arraySNP, MLPA - - DMD - PubMed: Kalman 2011 - M - - - - 0 - - 1 Johan den Dunnen
+/. _0_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0? Unknown g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del c.-244_(2292+1_2293-1)del - DMD_010018 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)del pathogenic (recessive) r.0 p.0 Parent #1 g.(32408220_32429908)_(33229611_?)del g.(32390103_32411791)_(33211494_?)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.(?_-128297)_(4344+1_4345-1)del pathogenic (recessive) r.0? p.? Maternal (confirmed) g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 CYBB_000007 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)del pathogenic (recessive) r.0 p.0 Parent #1 g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)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)del pathogenic (recessive) r.0 p.0 Unknown g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)del c.-244_(6438+1_6439-1)del - DMD_010044 deletion incl. Dp427c - - - Germline - - - 0 - DNA MAPH, PCRm - - DMD - - - M - Turkey - - 0 - - 2 Ayfer Ulgenalp
+?/. _0_44i c.-244_(6382_6538)del likely pathogenic r.0? p.0? Maternal (confirmed) g.(31986532_32235089)_(33229611_?)del g.(31968415_32216972)_(33211494_?)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_45i c.-244_(6538_6706)del pathogenic (recessive) r.0? p.0? Parent #1 g.(31950253_31986532)_(33229611_?)del g.(31932136_31968415)_(33211494_?)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)del pathogenic (recessive) r.0 p.0 Parent #1 g.(31893385_31947815)_(33229611_?)del g.(31875268_31929698)_(33211494_?)del c.-244_(6912+1_6913-1)del - DMD_010047 deletion incl. Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/+ _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 Unknown g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. IL1RAPL1 exon 7-11 (NM_014271.3:c.778+1_779-1del), NR0B1, GK PubMed: Zhang 2004 - - Unknown - - - 0 - DNA PCR - - AHC, DMD, GKD, MRX;IDX - PubMed: Zhang 2004 - M - - - - 0 - - 1 Johan den Dunnen
+/+ _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 Unknown g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. IL1RAPL1, NR0B1, GK PubMed: Zhang 2004 - - Germline/De novo (untested) - - - 0 - DNA PCR - - AHC, GKD, MRX;IDX - PubMed: Zhang 2004 - M - - - - 0 - - 1 Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 Maternal (inferred) g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del chrX:g.(?_31042316)_(33268716_?)del; c.-244_*2691[0] - DMD_010079 >2.3 Mb whole gene deletion PubMed: delGaudio 2008 - - Germline - - - 0 - DNA arrayCGH - - MD - PubMed: delGaudio 2008 - M - United States - - 0 - - 1 Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 Parent #1 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del chrX:g.(?_31042316)_(33268716_?)del; c.-244_*2691[0] - DMD_010079 >2.3 Mb whole gene deletion PubMed: delGaudio 2008 - - Germline - - - 0 - DNA arrayCGH - - MD - PubMed: delGaudio 2008 carrier female F - United States - - 0 - - 1 Johan den Dunnen
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0? p.0? Unknown g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 whole gene deletion incl. Dp427c - - - Germline - - - 0 - DNA MAPH, Southern - - DMD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 Parent #1 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0 p.0 Parent #1 g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c - - - Germline - - - 0 - DNA MLPA - - MD - - - M - Netherlands - - 0 - - 1 Ieke Ginjaar
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