Unique variants in 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.

6916 entries on 70 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 1 0i_79 c.-244(_-182)_(*1524_?)del pathogenic (recessive) r.0? p.0? 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) - - - - - Carmela Scuderi
+/. 2 0i_79_ c.-244(_-182)_(*1524_?)[0] pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 2 0i_1i c.-244(_-182)_(-182_59)del pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1 - DMD_010101 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - Güven Toksoy
+/. 1 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.? 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 - - - Johan den Dunnen
+/. 3 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del ex1del, c.-244_31+?del, ex1del, c.1-?_31+?del, ex1del, c.(?_-244)_31+?del - DMD_010101 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - - - Emiliano Giardina, Lorena Travaglini, Vincenzo Nigro
+/. 1 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 1 0i_1i c.-244(_-182)_(-182_59)[2] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_33357493)dup g.(33020173_33211494)_(33211494_33339376)dup dup ex1 and dup ex3-16 - DMD_020101 non-contiguous duplication ex1 and duplication ex3-16 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 1 0i_12i c.-244(_-182)_(1403_1602)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - Dr Silvana Tedeschi
+/. 1 0i_13i c.-244(_-182)_(1602_1603-7)del pathogenic (recessive) r.? p.0? g.(32591970_32613874)_(33229611_33357493)del g.(32573853_32595757)_(33211494_33339376)del del ex1-13 - DMD_010113 - PubMed: Luce 2016, Journal: Luce2016 - - Germline/De novo (untested) - - - - - Florencia Giliberto
+/. 1 0i_16i c.-244(_-182)_(1852_2085)[0] pathogenic (recessive) r.? p.(fs*) g.(32563359_32583959)_(33229611_33357493)del g.(32545242_32565842)_(33211494_33339376)del del ex1-16; c.(-127947_-245)_(1992+1_1993-1)del - DMD_010116 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 0i_18i c.-244(_-182)_(2226_2293-9)del pathogenic (recessive) r.? p.0? g.(32519968_32536191)_(33229611_33357493)del g.(32501851_32518074)_(33211494_33339376)del del ex1-18 - DMD_010118 - PubMed: Zimowski 2014 - - Germline - 1/180 patients - - - Johan den Dunnen
+/. 1 0i_6i c.-244(_-182)_(411_558)[0] pathogenic (recessive) r.0? p.0? g.(32827701_32834704)_(33229611_33357493)del g.(32809584_32816587)_(33211494_33339376)del delDp427m-ex6 - DMD_010106 - PubMed: Tyers 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 0i_7i c.-244(_-182)_(558_831+11)del pathogenic (recessive) r.? p.? g.(32717218_32827701)_(33229611_33357493)del g.(32699101_32809584)_(33211494_33339376)del del ex1-7 - DMD_010107 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 1 0i_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2 - DMD_010102 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 2 0i_2i c.-244(_-182)_(59_128)dup pathogenic (recessive) r.? p.? 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) - - - - - Vincenzo Nigro
+/. 1 0i_2i c.-244(_-182)_(59_128)[0] pathogenic (recessive) r.? p.? 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 - - - Johan den Dunnen
+/. 2 0i_2i c.-244(_-182)_(59_128)[0] pathogenic (recessive) r.?, r.0? p.(fs*), p.0? g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex1-2; c.(-127947_-245)_(93+1_94-1)del, del ex01ex02, c.-244-?_93+?del - DMD_010102 - PubMed: Ling 2020, Journal: Ling 2020, Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - - - Chao Ling, Alessandra Ferlini
+/. 1 0i_43i c.-244(_-182)_(6196_6382)[0] pathogenic (recessive) r.? p.? g.(32235089_32305740)_(33229611_33357493)del g.(32216972_32287623)_(33211494_33339376)del del ex1-43 - DMD_010143 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 1 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.? p.? 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) - - - - - Lorena Travaglini
+/. 1 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.? p.? g.(31986532_32235089)_(33229611_33357493)del g.(31968415_32216972)_(33211494_33339376)del del ex1-44 - DMD_010144 - PubMed: Zhang 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - B. Augello
+/. 1 0i_44i c.-244(_-182)_(6382_6538)del pathogenic (recessive) r.0? p.0? 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) - - - - - Carmela Scuderi
+/. 1 0i_45i c.-244(_-182)_(6538_6706)del pathogenic (recessive) r.? p.fs 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) - - - - - Filippo Maria Santorelli
+/. 1 0i_47i c.-244(_-182)_(6810_7018)[0] pathogenic (recessive) r.? p.? g.(31893385_31947815)_(33229611_33357493)del g.(31875268_31929698)_(33211494_33339376)del del ex1-47 - DMD_010147 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 1 0i_48i c.-244(_-182)_(7018_7099-10)[0] pathogenic (recessive) r.? p.(fs*) g.(31854946_31893385)_(33229611_33357493)del g.(31836829_31875268)_(33211494_33339376)del del ex1-48; c.(-127947_-245)_(7098+1_7099-1)del - DMD_010148 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 0i_9i c.-244(_-182)_(859_988)del pathogenic (recessive) r.? p.? g.(32663242_32716088)_(33229611_33357493)del g.(32645125_32697971)_(33211494_33339376)del del ex1-9 - DMD_010109 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 1 0i_9i c.-244(_-182)_(859_988)[0] pathogenic (recessive) r.? p.(fs*) g.(32663242_32716088)_(33229611_33357493)del g.(32645125_32697971)_(33211494_33339376)del del ex1-9; c.(-127947_-245)_(960+1_961-1)del - DMD_010109 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 0i_60i c.-244(_-182)_(8968_9118)del pathogenic (recessive) r.? p.? 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) - - - - - Lorena Travaglini
+/. 1 0i_60i c.-244(_-182)_(8968_9118)del pathogenic (recessive) r.? p.? g.(31366718_31462714)_(33229611_33357493)del g.(31348601_31444597)_(33211494_33339376)del del ex1-60 - DMD_010160 - PubMed: Zhang 2019 - - Germline - - - - - Johan den Dunnen
+/. 1 0i_62i c.-244(_-182)_(9187_9246)[0] pathogenic (recessive) r.? p.? g.(31279112_31341752)_(33229611_33357493)del g.(31260995_31323635)_(33211494_33339376)del del ex1m-62 - DMD_010162 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 1 _0_79 c.-244_(*1524_?)[0] pathogenic (recessive) r.0? p.0? g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del del ex1-79 - DMD_010079 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - - - Johan den Dunnen
+/. 2 _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del ex1-promotor, del Dp427c-ex1 - DMD_010001 - PubMed: Garcia-Planells 2009, PubMed: Toksoy 2019 - - Germline, De novo - 1/260 cases - - - Johan den Dunnen, Güven Toksoy
+/. 1 _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 2 _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.? p.(fs*), p.0? g.(33038290_33357493)_(33357493_?)del, g.(33038290_33229611)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del, g.(33020173_33211494)_(33339376_?)del del Dp427c-ex1; c.-244_(31+1_32-1)del, del Dp427c/ex1, c.(?_-128297)_31+?del - DMD_010001 - PubMed: Ling 2020, Journal: Ling 2020, PubMed: Rasic 2015 - - Germline/De novo (untested) - - - - - Chao Ling, Johan den Dunnen
+/. 1 _0_1i c.-244_(-182_59)[2] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33357493_?)dup g.(33020173_33211494)_(33339376_?)dup dup exDp427c-1 and dup ex45-49 - DMD_020001 non-contiguous duplication exDp427c-1 and ex45-49 PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 1 _0_1i c.-244_(-18[0]2_59)[0] pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del exDp427c-1 - DMD_010001 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. 2 _1_1i c.-244_(31+1_32-1)del pathogenic (recessive) r.0? p.0? g.(33038318_33229398)_(33229673_?)del g.(33020201_33211281)_(33211556_?)del del exPm - DMD_058001 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 _0_39i c.-244_(5449-4_5587-23)[0] pathogenic (recessive) r.? p.(fs*) g.(32361426_32364201)_(33357493_?)del g.(32343309_32346084)_(33339376_?)del del Dp427c-ex39; c.-244_(5586+1_5587-1)del - DMD_010039 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 _0_2i c.-244_(59_128)dup pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33357493_?)dup g.(32849786_33020173)_(33339376_?)dup dup Dp427c-ex2 - DMD_020002 - PubMed: Annexstad 2019 - - Germline - 1/67 cases - - - Johan den Dunnen
+/. 1 _0_2i c.-244_(59_128)[0] pathogenic (recessive) r.? p.? 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 - - - Johan den Dunnen
+/. 1 _0_2i c.-244_(59_128)[0] pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 2 _0_44i c.-244_(6382_6538)[0] pathogenic (recessive) r.? p.?, p.(fs*) g.(31986532_32235089)_(33357493_?)del g.(31968415_32216972)_(33339376_?)del del exDp427c-44, del Dp427c-ex44; c.-244_(6438+1_6439-1)del - DMD_010044 - PubMed: Guo 2015, PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen, Chao Ling
+/. 1 _0_47i c.-244_(6810_7018)[0] pathogenic (recessive) r.0? p.0? 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) - - - - - Milena Cau
+/. 1 _0_9i c.-244_(859_988)del pathogenic (recessive) r.? p.0? 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 - - - Johan den Dunnen
+/. 1 _1_2i c.-244_(93+1_94-1)del pathogenic (recessive) r.0? p.0? g.(32867938_33038255)_(33229673_?)del g.(32849821_33020138)_(33211556_?)del del exPm,1-2 - DMD_058002 - PubMed: Zamani 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 _0_79_ c.-244_*2691[0] pathogenic (recessive) r.0 p.0 g.(?_31137345)_(33357493_?)del g.(?_31119228)_(33339376_?)del del gene - DMD_010080 - PubMed: Tyers 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 24 C.3242C>A pathogenic (recessive) r.(?) p.(Ser1081*) g.32482737G>T g.32464620G>T - - DMD_003878 - Neri, submitted 2020, Frontiers in Genetics - - Germline/De novo (untested) - - - - - Vincenzo Nigro
+/. 1 25i c.3433-2_ 3433-1inv pathogenic (recessive) r.spl p.? g.32472950_32472951inv - 3433-2_ 3433-1invAG - DMD_003821 - PubMed: Wang 2019 - - Germline - - - - - Johan den Dunnen
+/. 15 0i_40i, 0i_43i, 3i_69i, 44i_63i, 67, 21, 9i_44i, 18, 20 c.? pathogenic (recessive) r.?, r.(?), - p.?, p.(Ala765Cysfs*8), - g.? g.? del ex1-29 ex40, dup ex1, ex42-43, dup ex4-6 ex61-69, dup ex45-55 ex63, del 8-10,21-26, dup 3-10,21-29, 7 more items - DMD_030140, DMD_030143, DMD_030469, DMD_034563, DMD_000000, DMD_031044, USP9X_000005 non contiguous duplication of exons 45-50, 53, 68, 69, 72,73,75 PubMed: Deepha 2017, PubMed: Wang 2014, PubMed: Yang 2019, Neri, submitted 2020, Frontiers in Genetics, 1 more item - - Germline/De novo (untested), Germline, De novo - 1/100 cases BMD/DMD - - - Johan den Dunnen, Luz Berenice Lopez-Hernandez, Monica Traverso, Lakshmi Bremadesam
-/. 1 _0 c.-202238G>A benign r.(?) p.(=) g.33431667C>T - - - DMD_000933 - Affymetrix-2967194 - - Germline - 0.07 - - - Johan den Dunnen
+/. 1 _0_9i c.-244_(960+1_961-1)[0] pathogenic (recessive) r.0? p.0? g.(32663270_32715986)_(33357726_?)del g.(32645153_32697869)_(33339609_?)del - - DMD_050009 deletion includes DXS1242 (DYSII) - - - Germline - - - - - Mireille Claustres
-?/. 1 _0 c.-128499_-128498del likely benign r.(?) p.(=) g.33357927_33357928del g.33339810_33339811del Dp427c:-545_-547delAG - DMD_002276 - PubMed: Flanigan 2009 - rs72470543 Germline - 1/606 - - - Kevin Flanigan
-/. 1 _0 c.-128410A>C benign r.(=) p.(=) g.33357839T>G g.33339722T>G Dp427c:-457A>C - DMD_001882 - PubMed: Flanigan 2009 - rs66718538 Germline - 67/637 - - - Kevin Flanigan
+/. 2 _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0? 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 - - - - - Ieke Ginjaar, Johan den Dunnen
+/. 1 _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0? p.0? g.(33038290_33357493)_(33357493_?)del g.(33020173_33339376)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - - - Ieke Ginjaar
?/. 1 _0_1i c.-244_(-182_59)[2] VUS r.? p.? g.(33038290_33229611)_(33357493_?)dup g.(33020173_33211494)_(33339376_?)dup c.-244_(31+1_32-1)dup - DMD_020001 non-contiguous duplication duplication brain/muscle promoter and exons 45-55 - - - Germline - - - - - Jiang Wenting
+/. 1 _0_1i c.-244_(31+1_32-1)[0] pathogenic (recessive) r.0? p.0? g.(33038318_33229398)_(33357726_?)del g.(33020201_33211281)_(33339609_?)del - - DMD_050001 deletion includes Dp427c - - - Germline - - - - - Tanja Lalic
+/. 1 _0_1i c.-244_(31+29960_31+30066)[0] pathogenic (recessive) r.0 p.0 g.(33199333_33199439)_(33358795_38181471)del g.(33181216_33181322)_(33340678_38163354)del hg18 g.(33109254_33109360)_(33268716_38091392)del - DMD_038001 159.4 Kb deletion PubMed: del Gaudio 2008 - - Germline - - - - - Johan den Dunnen
+/. 3 _0_1i c.-244_(31+83220_32-1)[0] pathogenic (recessive) r.0 p.0 g.(33038318_33146179)_(33357726_?)del - Dp427c,Dp427p - DMD_040258 deletion incl. Dp427c, Dp427p PubMed: Flanigan 2009 - - Germline - - - - - Kevin Flanigan
+/. 1 _0_2i c.-244_(93+1_94-1)[0] pathogenic (recessive) r.0 p.0 g.(32867938_33038255)_(33357726_?)del g.(32849821_33020138)_(33339609_?)del Dp427c,Dp427p - DMD_050002 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - - - Kevin Flanigan
+/. 1 _0_7i c.-244_(649+1_650-1)[0] pathogenic (recessive) r.0 p.? g.(32717411_32827609)_(33357726_?)del g.(32699294_32809492)_(33339609_?)del Dp427c,Dp427p - DMD_050007 deletion incl. Dp427c PubMed: Flanigan 2009 - - Germline - - - - - Kevin Flanigan
+/. 1 _0_9i c.-244_(859_988)[2] pathogenic (recessive) r.(?) p.? g.(32663242_32716088)_(33357493_?)dup g.(32645125_32697971)_(33339376_?)dup ex1ex9dup; c.-244_(960+1_961-1)dup - DMD_020009 - - - - Unknown - - - - - Alessandra Ferlini
+/., +/+ 4 _0_18i c.-244_(2292+1_2293-1)[0] pathogenic (recessive) r.0? p.0? g.(32519960_32536124)_(33357726_?)del g.(32501843_32518007)_(33339609_?)del del1b-18 - DMD_050018 deletion includes Dp427c, centrimeric breakpoint close to marker BBJ, deletion includes Dp427c, 1 more item PubMed: Kalman 2011, PubMed: Stockley 2006, PubMed: Brown 1996, PubMed: Brown - - Germline, Unknown - - - - - Johan den Dunnen, Peter Ray
+/. 1 _0_30i c.-244_(4194_4312)[0] pathogenic (recessive) r.0 p.0 g.(32408220_32429908)_(33357493_?)del g.(32390103_32411791)_(33339376_?)del c.-244_(4233+1_4234-1)del - DMD_010030 deletion incl. Dp427c PubMed: Piko 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 _0_31i c.-244_(4344+1_4345-1)[0] pathogenic (recessive) r.0? p.? g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 DMD_042217 5711.4 kb deletion PubMed: Arai 2012 - - Germline - - - - - Johan den Dunnen
+?/., +/. 2 _0_44i c.-244_(6382_6538)[0] likely pathogenic, pathogenic (recessive) r.0?, r.0 p.0?, p.0 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 - - - - - Martin Cruz, Johan den Dunnen
+/. 1 _0_44i c.-244_(6438+1_6439-1)[0] pathogenic (recessive) r.0 p.0 g.(31986632_32235032)_(33357726_?)del g.(31968515_32216915)_(33339609_?)del - - DMD_050044 deletion incl. Dp427c - - - Germline - - - - - Ayfer Ulgenalp
+/. 1 _0_45i c.-244_(6538_6706)[0] pathogenic (recessive) r.0? p.0? g.(31950253_31986532)_(33357493_?)del g.(31932136_31968415)_(33339376_?)del ex1ex45del; c.-244_(6614+1_6615-1)del - DMD_010045 - - - - Unknown - - - - - Alessandra Ferlini
+/. 1 _0_47i c.-244_(6810_7018)[0] pathogenic (recessive) r.0 p.0 g.(31893385_31947815)_(33357493_?)del g.(31875268_31929698)_(33339376_?)del c.-244_(6912+1_6913-1)del - DMD_010047 deletion incl. Dp427c - - - Germline - - - - - Ieke Ginjaar
+/. 2 _0_79_ c.-244_(*1524_?)[0] pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c - - - Germline - - - - - Ieke Ginjaar
+/., +/+ 7 _0_79_ c.-244_*2691[0] pathogenic (recessive) r.0, r.0? p.0, p.0? g.(?_31137345)_(33357726_?)del g.(?_31119228)_(33339609_?)del hg18 g.(?_31042316)_(33268716_?)del, Dp427p; Dp427c - DMD_050080 deletion incl. Dp427c, whole gene deletion incl. Dp427c, >2.3 Mb whole gene deletion, 2 more items PubMed: Flanigan 2009, PubMed: del Gaudio 2008, PubMed: Zhang 2004 - - Germline, Unknown, Germline/De novo (untested) - - - - - Kevin Flanigan, Ieke Ginjaar, Johan den Dunnen
-/. 1 0 c.-128249G>T benign r.(=) p.(=) g.33357678C>A g.33339561C>A - - DMD_001386 - PubMed: Flanigan 2009 - - Germline - 0.97 - - - Kevin Flanigan
-/. 3 0 c.-128163A>G benign r.(?), r.(=) p.(=) g.33357592T>C g.33339475T>C Dp427c:-210A>G - DMD_000379 - PubMed: Flanigan 2009 - rs5927163 Germline - 36/692, 0.11, 2/28 - - - Kevin Flanigan, Laurence Michel-Calemard, Franziska Joncourt
-/. 1 _1 c.-127831del benign r.(=) p.(=) g.33357260del g.33339143del -127831delA - DMD_001387 - - - - Germline - 0.01 - - - Kevin Flanigan
-/. 1 _1 c.-127810T>C benign r.(=) p.(=) g.33357239A>G g.33339122A>G - - DMD_001388 - - - - Germline - 0.01 - - - Kevin Flanigan
?/. 1 0i_7i c.-244_(649+1_650-1)[2] VUS r.? p.? g.(32717411_32827609)_(33229674_33357375)dup g.(32699294_32809492)_(33211557_33339258)dup - - DMD_060107 extra copy exons 1m-7 DMD gene email request - - Germline - - - - - Johan den Dunnen
+/. 1 0i_2i c.-244(_-182)_(59_128)[0] pathogenic (recessive) r.? p.? g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del ex1ex2del; c.-244_(93+1_94-1)del - DMD_010102 - - - - Unknown - - - - - Alessandra Ferlini
+/. 1 0i_4i c.-244_(264+1_265-1)del pathogenic (recessive) r.0? p.0? g.(32841505_32862899)_(33229674_33357375)del g.(32823388_32844782)_(33211557_33339258)del - - DMD_050104 Dp427c present - - - Germline - - - - - Ayfer Ulgenalp
+/. 1 0i_13i c.-244(_-182)_(1602_1603-7)[0] pathogenic (recessive) r.? p.? g.(32591970_32613874)_(33229611_33357493)del g.(32573853_32595757)_(33211494_33339376)del ex1ex13del; c.-244_(1602+1_1603-1)del - DMD_010113 - - - - Unknown - - - - - Alessandra Ferlini
-/. 1 _1 c.-46953C>G benign r.(?) p.(=) g.33276382G>C g.33258265G>C - - DMD_000932 - Affymetrix-2967109 - - Germline - 0.46 - - - Johan den Dunnen
?/. 1 _1_ c.(?_-25798)_(7+108860_?)x3 VUS r.? p.? g.(?_33120563)_(33255227_?)[3] - chrX(33,158,437-33,293,101)x3 - DMD_040076 unknown reference sequence hg18 or hg19; 2 copies detected, location additional copy not determined - - - Unknown - - - - - Johan den Dunnen
-/. 1 _1 c.-25482G>C benign r.(?) p.(=) g.33254911C>G g.33236794C>G - - DMD_000931 - Affymetrix-2967095 - - Germline - 0.04 - - - Johan den Dunnen
+/. 1 _1_1i c.-13496_31+1783del pathogenic (recessive) r.0? p.0? g.33227616_33242925del g.33209499_33224808del - - DMD_001358 15.3 kb deletion PubMed: Muntoni, PubMed: Bastianutto 2002, {GenBankAF324932}, - - Germline - - - - - Johan den Dunnen
+/. 1 _1_1i c.-1443_31+4726delinsTTTTTAAAATTA pathogenic (recessive) r.0? p.0? g.33224673_33230872delinsTAATTTTAAAAA g.33206556_33212755delinsTAATTTTAAAAA -1443_31+4726delins12 - DMD_001359 6.2 kb deletion PubMed: Bastianutto 2002, {GenBankAF373844} - - Germline - - - - - Johan den Dunnen
-/. 1 _1 c.-807A>T benign r.(=) p.(=) g.33230236T>A g.33212119T>A - - DMD_001389 - - - - Germline - 0.01 - - - Kevin Flanigan
+/. 1 _1_1 c.-648_0dup pathogenic (recessive) r.(?) p.(Met1?) g.33229430_33230077dup g.33211313_33211960dup - - DMD_002085 de novo, in patient UMD 366 database - - De novo - - - - - Johan den Dunnen
-/. 1 _1 c.-419A>G benign r.(?) p.(=) g.33229848T>C g.33211731T>C -176A>G - DMD_001008 - PubMed: Tuffery 1993 - - Germline - 1/13 - - - Mireille Claustres
?/. 2 _1 c.-342G>A VUS r.(?) p.(=) g.33229771C>T - - - DMD_046369 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 1 _0_18i c.-244_2293-1942inv pathogenic (recessive) r.0? p.0? g.[32521901_35180354inv;35180355_35180365delinsCAACTCCTG] - - - DMD_046509 - PubMed: Cummings 2017 - - Germline - - - - - Johan den Dunnen
+/+ 5 _1_79_ c.-244_*2691[0] pathogenic (recessive) r.0 p.0 g.(25040000_28600000)_(33229674_?)del, g.(28606165_29935580)_(33229674_?)del, 2 more items - - - DMD_040079, DMD_040080, DMD_040081, DMD_040082 deletion incl. IL1RAPL1, NR0B1 (DAX1), GK, DMD, deletion incl. NR0B1 (DAX1), GK, DMD, 2 more items PubMed: Zhang 2004, Journal: Zhang 2004 - - Unknown yes - - - - Johan den Dunnen
+/. 1 _1_1i c.(?_-182)_(-182_59)del pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del del ex1 - DMD_018001 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - - - Johan den Dunnen
+/. 3 _1_1i c.(?_-182)_(-182_59)del pathogenic (recessive) r.0?, r.? p.0?, p.? g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del del ex1 and dup ex2, del ex1 - DMD_018001 non-contiguous deletion (ex1)/duplication (ex2) PubMed: Ma 2018, PubMed: Mah 2011 - - Germline/De novo (untested) - 1/1042 cases, 3/1042 cases, 2/773 cases - - - Shiwen Wu, Johan den Dunnen
+/. 1 _1_1i c.(?_-182)_(-182_59)dup pathogenic (recessive) r.? p.? g.(33038290_33229611)_(33229611_?)dup g.(33020173_33211494)_(33211494_?)dup dup ex1 - DMD_028001 - PubMed: Ma 2018 - - Germline/De novo (untested) - 1/1042 cases - - - Shiwen Wu
+?/., +/. 3 0i_1i c.-244(_-182)_(-182_59)dup likely pathogenic, pathogenic (recessive) r.(=?), r.? p.(=?), p.? g.(33038290_33229611)_(33229611_33357493)dup g.(33020173_33211494)_(33211494_33339376)dup c.-244_(31+1_32-1)dup - DMD_020101 duplication Dp427m promoter PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 - - Germline - - - - - Johan den Dunnen, Ieke Ginjaar
-/., ?/. 2 0i_1i c.-244(_-182)_(-182_59)dup benign, VUS r.? p.? g.(33038290_33229611)_(33229611_33357493)dup g.(33020173_33211494)_(33211494_33339376)dup c.-244_(31+1_32-1)dup - DMD_020101 - - - - Germline - - - - - Lucila Sandoval Ramirez, Luz Berenice Lopez-Hernandez
+/. 1 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.0? p.0? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 1987 database - - Germline - - - - - Johan den Dunnen
+/. 4 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.?, r.0? p.?, p.0? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del del ex1; c.-244_(31+1_32-1)del, c.-244_(31+1_32-1)del - DMD_010101 del incl. promotor; de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 3007 database, PubMed: Tuffery-Giraud 2009, UMD 703 database, 1 more item - - Germline/De novo (untested), De novo, Germline - - - - - Luz Berenice Lopez-Hernandez, Johan den Dunnen
+/. 5 0i_1i c.-244(_-182)_(-182_59)[0] pathogenic (recessive) r.0?, r.(e1-e1del), r.? p.0?, p.? g.(33038290_33229611)_(33229611_33357493)del g.(33020173_33211494)_(33211494_33339376)del c.-244_(31+1_32-1)del, del e1; c.-244_(31+1_32-1)del, del ex1; c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 1594 database, PubMed: Chen 2013, PubMed: Suh 2017 - - Germline, Unknown yes - - - - Ieke Ginjaar, Johan den Dunnen
+/. 1 _0_1i c.-244_(-182_59)[0] pathogenic (recessive) r.0 p.0 g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del del ex1; c.-244_(31+1_32-1)del - DMD_010001 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - Moon-Woo Seong
+/. 8 _1_1i c.-244_(31+1_32-1)[0] pathogenic (recessive) r.0?, r.0 p.0?, p.?, p.0 g.(33038318_33229398)_(33229673_?)del g.(33020201_33211281)_(33211556_?)del - - DMD_058001 Dp427c present, no Dp427m RNA, in muscle Dp427c transcript (not in heart), del incl. promotor, 1 more item PubMed: Beggs, PubMed: Hoffman, PubMed: Flanigan 2009, PubMed: Muntoni, PubMed: Muntoni, OMIM:var0021, 3 more items - - Germline - - - - - Johan den Dunnen, Kevin Flanigan, Albena Todorova, Mireille Claustres
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