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.

5760 entries on 58 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

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 1i_79_ c.(-182_59)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 1 49i_79_ c.(7099-10_7309+14)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - Poh San Lai
+/. 1 67i_79_ c.(9779_9857)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 2 0i_79_ c.-244(_-182)_(*1524_?)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 1 0i_1i c.-244(_-182)_(-182_59)del 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 - chrX_014545 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 0i_16i c.-244(_-182)_(1852_2085)del 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 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 0i_2i c.-244(_-182)_(59_128)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 1 0i_48i c.-244(_-182)_(7018_7099-10)del 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 - chrX_014544 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 0i_9i c.-244(_-182)_(859_988)del 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 - chrX_014546 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 2 _0_1i c.-244_(-182_59)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 1 _0_39i c.-244_(5449-4_5587-23)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 1 _0_2i c.-244_(59_128)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 1 _0_44i c.-244_(6382_6538)del pathogenic (recessive) r.? p.(fs*) 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) - - - - - Chao Ling
+/. 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
+/. 43 _1_40i, _1_43i, 3i_69i, 44i_63i, 12i_51i, 9i_44i, 2i_8i, 47i_51i, 16i_46i, 56, 33, 17, 16, 12, 11, 10, 10 more items c.? pathogenic (recessive) r.?, r.(?) p.?, p.(fs*), p.(del) g.? - del ex1-29 ex40, non-contiguous dup ex5-7 and ex17-42, dup ex1, ex42-43, dup ex4-6 ex61-69, 36 more items - DMD_030140, USP9X_000005, DMD_030143, DMD_030469, DMD_034563, DMD_031351, DMD_031044, DMD_030308, 5 more items - PubMed: Deepha 2017, Ling 2019, submitted, PubMed: Wang 2014, PubMed: De Almeida 2017, PubMed: Ma 2018 - - Germline/De novo (untested), Germline, De novo - - - - - Johan den Dunnen, Chao Ling, Luz Berenice Lopez-Hernandez
?/. 1 _0_1i c.(?_-989604)_(31+79696_32-1)dup VUS r.? p.? g.33149703_34219033dup - 33,149,703-34,219,033dup - DMD_046438 duplication brain/muscle promoter unknown consequences - - - Germline - - - - - Johan den Dunnen
-/. 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_(859_988)del pathogenic (recessive) r.0? p.0? g.(32663242_32716088)_(33229611_?)del g.(32645125_32697971)_(33211494_?)del c.-244_(960+1_961-1)del - DMD_010009 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
?/. 1 _0_0i c.-244_(-128064_-182)dup VUS r.? p.? g.(33229611_33357493)_(33229611_?)dup g.(33211494_33339376)_(33211494_?)dup c.-244_(-127947_-245)dup - DMD_020000 - - - - Germline - - - - - Johan den Dunnen
?/. 1 _0_0i c.-244_(-128064_-182)del VUS r.? p.? g.(33229611_33357493)_(33229611_?)del g.(33211494_33339376)_(33211494_?)del c.-244_(-127947_-245)del - DMD_010000 deletion Dp427c (brain) promoter only - - - Unknown - - - - - Johan den Dunnen
+/. 4 _0_1i c.(?_-128297)_(31+83220_32-1)del 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, Ayfer Ulgenalp
+/. 4 _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0?, p.? g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del c.-244_(31+1_32-1)del, chrX:g.(33109254_33109360)_(33268716_38091392)del; c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c, 159.4 Kb deletion PubMed: delGaudio 2008, Jorge ESHG2006 P1191 - - Germline - - - - - Ieke Ginjaar, Johan den Dunnen, Tanja Lalic
+/. 1 _0_1i c.-244_(-182_59)del pathogenic (recessive) r.0? p.0? g.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - - - Ieke Ginjaar
?/. 1 _0_1i c.-244_(-182_59)dup VUS r.? p.? 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 - - - - - Jiang Wenting
+/. 1 _0_2_ c.[(?_-24528297)_(-127947_-245)dup;(31+1_32-1)_(93+1_94-1)dup] pathogenic (recessive) r.? p.? 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 - - - - - Johan den Dunnen
+/. 1 _0_2i c.-244_(59_128)del pathogenic (recessive) r.0 p.0 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 - - - - - Kevin Flanigan
+/. 1 _0_7_ c.[(?_-128297)_(-127947_?)dup; (31+1_32-1)_(649+1_650-1)dup] pathogenic (recessive) r.(?) p.? 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 - - - - - Johan den Dunnen
+/. 1 _0_7i c.-244_(558_831+11)del pathogenic (recessive) r.0 p.? 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 - - - - - Kevin Flanigan
+/. 1 _0_9_ c.[(?_-128297)_(31+1_32-1)dup; (93+1_94-1)_(960+1_961-1)dup] pathogenic (recessive) r.? p.? g.? - - - DMD_030009 1 more item PubMed: Schwartz 2004 - - Germline - - - - - Marianne Schwartz
+/. 1 _0_9i c.-244_(859_988)dup pathogenic (recessive) r.(?) p.? g.(32663242_32716088)_(33229611_?)dup g.(32645125_32697971)_(33211494_?)dup ex1ex9dup; c.-244_(960+1_961-1)dup - DMD_020009 - - - - Unknown - - - - - Alessandra Ferlini
+/., +/+ 4 _0_18i c.-244_(2226_2293-9)del pathogenic (recessive) r.0? p.0? g.(32519968_32536191)_(33229611_?)del g.(32501851_32518074)_(33211494_?)del del1b-18; c.-244_(2292+1_2293-1)del, c.-244_(2292+1_2293-1)del - DMD_010018 deletion includes Dp427c, centrimeric breakpoint close to marker BBJ, deletion includes Dp427c, 1 more item PubMed: Kalman 2011, PubMed: Stockley 2007, PubMed: Brown 1996, PubMed: Brown - - Germline, Unknown - - - - - Johan den Dunnen, Peter Ray
+/. 1 _0_30i c.-244_(4194_4312)del pathogenic (recessive) r.0 p.0 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 - - - - - Johan den Dunnen
+/. 1 _0_31i c.(?_-128297)_(4344+1_4345-1)del pathogenic (recessive) r.0? p.? g.(32407730_32407789)_(38122529_38122588)del - - 46,X,del(X)(p21.1p21.2 CYBB_000007 5711.4 kb deletion PubMed: Arai 2012 - - Germline - - - - - Johan den Dunnen
+?/., +/. 3 _0_44i c.-244_(6382_6538)del likely pathogenic, pathogenic (recessive) r.0?, r.0 p.0?, p.0 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 - - - - - Martin Cruz, Johan den Dunnen, Ayfer Ulgenalp
+/. 1 _0_45i c.-244_(6538_6706)del pathogenic (recessive) r.0? p.0? g.(31950253_31986532)_(33229611_?)del g.(31932136_31968415)_(33211494_?)del ex1ex45del; c.-244_(6614+1_6615-1)del - DMD_010045 - - - - Unknown - - - - - Alessandra Ferlini
+/. 1 _0_47i c.-244_(6810_7018)del pathogenic (recessive) r.0 p.0 g.(31893385_31947815)_(33229611_?)del g.(31875268_31929698)_(33211494_?)del c.-244_(6912+1_6913-1)del - DMD_010047 deletion incl. Dp427c - - - Germline - - - - - Ieke Ginjaar
+/., +/+ 9 _0_79_ c.-244_(*1524_?)del pathogenic (recessive) r.0, r.0? p.0, p.0? g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0], chrX:g.(?_31042316)_(33268716_?)del; c.-244_*2691[0], Dp427p; Dp427c; c.-244_*2691[0] - DMD_010079 deletion incl. Dp427c, whole gene deletion incl. Dp427c, >2.3 Mb whole gene deletion, 2 more items PubMed: Flanigan 2009, PubMed: delGaudio 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(_-182)_(558_831+11)dup VUS r.? p.? g.(32717218_32827701)_(33229611_33357493)dup g.(32699101_32809584)_(33211494_33339376)dup c.-244_(649+1_650-1)dup - DMD_020107 extra copy exons 1m-7 DMD gene email request - - Germline - - - - - Johan den Dunnen
+/. 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 ex1ex2del; c.-244_(93+1_94-1)del - DMD_010102 - - - - Unknown - - - - - Alessandra Ferlini
+/. 1 0i_4i c.-244(_-182)_(228_310)del pathogenic (recessive) r.0? p.0? g.(32841459_32862936)_(33229611_33357493)del g.(32823342_32844819)_(33211494_33339376)del c.-244_(264+1_265-1)del - DMD_010104 Dp427c present - - - Germline - - - - - Ayfer Ulgenalp
+/. 1 0i_13i c.-244(_-182)_(1602_1603-7)del 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 _1_19i c.(?_-182)_(2293-9_2443)del pathogenic (recessive) r.0? p.0? g.(32509573_32519968)_(33357493_?)del g.(32491456_32501851)_(33339376_?)del c.-244_(2380+1_2381-1)del - DMD_010119 - - - - Unknown - - - - - Victoria Sacara
+/. 1 _1_45i c.(?_-182)_(6538_6706)del pathogenic (recessive) r.0? p.0? g.(31950253_31986532)_(33357493_?)del g.(31932136_31968415)_(33339376_?)del c.-244_(6614+1_6615-1)del - DMD_010145 - - - - Unknown - - - - - Victoria Sacara
+/+ 1 _1_79_ c.(?_-182)_(*1524_?)del pathogenic (recessive) r.0 p.0 g.(?_31138512)_(33357493_?)del g.(?_31120395)_(33339376_?)del c.-244_*2691[0] - DMD_010179 - L Medne ASHG 2010 A1669 - - Germline - - - - - Johan den Dunnen
+/+ 5 _1_79_ c.(?_-244)_(*2691_?)del 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 c.-114dup benign r.(?) p.(=) g.33229543dup g.33211426dup -114dupT - DMD_001390 - PubMed: Flanigan 2009 - rs72470542 Germline - 4/680 - - - Kevin Flanigan
+?/. 1 1 c.-85T>C likely pathogenic r.(?) p.(=) g.33229514A>G g.33211397A>G - - DMD_002558 may disrupt translation control sequence PhD thesis A.Esterhuizen (Cape Town), PubMed: Esterhuizen 2014 - - Germline - - TspRI+ - - Johan den Dunnen
?/. 1 1 c.-75G>A VUS r.(?) p.(=) g.33229504C>T - - - DMD_046368 - PubMed: Nallamilli 2018 - - Germline - - - - - Madhuri Hegde
+/. 10 1i_2i c.(-182_59)_(59_128)dup pathogenic (recessive) r.? p.(fs*) g.(32867903_33038290)_(33038290_33229611)dup g.(32849786_33020173)_(33020173_33211494)dup dup ex2; c.(31+1_32-1)_(93+1_94-1)dup - DMD_020202 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 1i_4i c.(-182_59)_(228_310)dup pathogenic (recessive) r.? p.(fs*) g.(32841459_32862936)_(33038290_33229611)dup g.(32823342_32844819)_(33020173_33211494)dup dup ex2-4; c.(31+1_32-1)_(264+1_265-1)dup - DMD_020204 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 1i_7i c.(-182_59)_(558_831+11)dup pathogenic (recessive) r.? p.(del) g.(32717218_32827701)_(33038290_33229611)dup g.(32699101_32809584)_(33020173_33211494)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 1i_11i c.(-182_59)_(1175_1403)del pathogenic (recessive) r.? p.(fs*) g.(32632499_32662405)_(33038290_33229611)del g.(32614382_32644288)_(33020173_33211494)del del ex2-11; c.(31+1_32-1)_(1331+1_1332-1)del - DMD_010211 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 1i_11i c.(-182_59)_(1175_1403)dup pathogenic (recessive) r.? p.(fs*) g.(32632499_32662405)_(33038290_33229611)dup g.(32614382_32644288)_(33020173_33211494)dup dup ex2-11; c.(31+1_32-1)_(1331+1_1332-1)dup - DMD_020211 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 2 1i_17i c.(-182_59)_(2085_2226)dup pathogenic (recessive) r.? p.(fs*) g.(32536191_32563359)_(33038290_33229611)dup g.(32518074_32545242)_(33020173_33211494)dup dup ex2-17; c.(31+1_32-1)_(2168+1_2169-1)dup - DMD_020217 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 1i_21i c.(-182_59)_(2709_2923)del pathogenic (recessive) r.? p.(del) g.(32490307_32503130)_(33038290_33229611)del g.(32472190_32485013)_(33020173_33211494)del del ex2-21; c.(31+1_32-1)_(2803+1_2804-1)del - DMD_010221 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 1i_30i c.(-182_59)_(4194_4312)dup pathogenic (recessive) r.? p.(fs*) g.(32408220_32429908)_(33038290_33229611)dup g.(32390103_32411791)_(33020173_33211494)dup dup ex2-30; c.(31+1_32-1)_(4233+1_4234-1)dup - DMD_020230 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/. 1 1i_37i c.(-182_59)_(5290_5406)dup pathogenic (recessive) r.? p.(fs*) g.(32366565_32380940)_(33038290_33229611)dup g.(32348448_32362823)_(33020173_33211494)dup dup ex2-37; c.(31+1_32-1)_(5325+1_5326-1)dup - DMD_020237 - Ling 2019, submitted - - Germline/De novo (untested) - - - - - Chao Ling
+/., ?/. 2 1 c.-54T>A pathogenic (recessive), VUS r.(?), r.(=) p.(=) g.33229483A>T g.33211366A>T - - DMD_002273 - PubMed: Flanigan 2009, PubMed: Wang 2019 - - Germline - - - - - Kevin Flanigan, Johan den Dunnen
+/. 1 1 c.-29_-28ins(603) pathogenic (recessive) r.0? p.0? g.33229457_33229458ins(603) - - - DMD_000149 L1 insertion, no Dp427m RNA PubMed: Yoshida - - Germline - - - - - Johan den Dunnen
-/., ?/. 3 1 c.-8T>A benign, VUS r.(?), r.-8u>a p.(=), p.= g.33229437A>T g.33211320A>T - - DMD_000369 - PubMed: Mendell 2001, from website {DBsub-Emory}, PubMed: Kesari 2009 - - Germline - - - - - Johan den Dunnen, Madhuri Hegde, Akanchha Kesari
+/. 1 _1_1i_ c.(?_-1)_(31+83135_?)del pathogenic (recessive) r.0? p.0? g.(?_33146264)_(33229430_?)del - - - DMD_040077 inherited maternal grand mother PubMed: Carsana - - Germline - - - - - Johan den Dunnen
+/. 1 _1_11i c.(?_-1)_(31+1_32-1)dup;(960+1_961-1)_(1331+1_1332-1)dup pathogenic (recessive) r.? p.? g.(32632571_32662248)_(32663270_32715986)dup;(33038318_33229398)_(33229430_?)dup - non-contiguous dup ex1 and 10-11 - DMD_040275 MLPA detected non-contiguous duplication exons 1 and 10-11 PubMed: Baskin 2014 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_1i c.(?_-182)_(-182_59)del pathogenic (recessive) r.0? p.0? g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010101 - PubMed: Tuffery-Giraud 2009, UMD 1987 database - - Germline - - - - - Johan den Dunnen
+/. 8 _1_1i c.(?_-182)_(-182_59)del pathogenic (recessive) r.?, r.0? p.?, p.0? g.(33038290_33229611)_(33357493_?)del g.(33020173_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, Dp427c present, 1 more item PubMed: Tuffery-Giraud 2009, UMD 3007 database, PubMed: Beggs, PubMed: Hoffman, PubMed: Flanigan 2009, 3 more items - - Germline/De novo (untested), De novo, Germline - - - - - Luz Berenice Lopez-Hernandez, Johan den Dunnen, Kevin Flanigan, Albena Todorova
+/. 2 _1_1i c.(?_-182)_(-182_59)del pathogenic (recessive) r.0? p.0? g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del c.-244_(31+1_32-1)del - DMD_010101 del incl. promotor PubMed: Abbadi 1994, UMD 2914 database, PubMed: Abbadi 1994, UMD 2915 database - - Germline - - - - - Johan den Dunnen
+/. 8 _1_1i c.(?_-182)_(-182_59)del pathogenic (recessive) r.0?, r.?, r.0, r.(e1-e1del) p.0?, p.?, p.0 g.(33038290_33229611)_(33357493_?)del g.(33020173_33211494)_(33339376_?)del c.-244_(31+1_32-1)del, del ex1; c.-244_(31+1_32-1)del, del e1; c.-244_(31+1_32-1)del - DMD_010101 deletion from 5'DYS MSB to Dp427p promoter (Purkinje) PubMed: Cho 2017, PubMed: Frisso, PubMed: Tuffery-Giraud 2009, UMD 1594 database, PubMed: Chen 2013, 1 more item - - Germline, Germline/De novo (untested), Unknown yes - - - - Ieke Ginjaar, Moon-Woo Seong, Johan den Dunnen, Mireille Claustres
+?/., +/. 3 _1_1i c.(?_-182)_(-182_59)dup likely pathogenic, pathogenic (recessive) r.(=?), r.? p.(=?), p.? g.(33038290_33229611)_(33357493_?)dup g.(33020173_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
-/. 1 _1_1i c.(?_-182)_(-182_59)dup benign r.? p.? g.(33038290_33229611)_(33357493_?)dup g.(33020173_33211494)_(33339376_?)dup c.-244_(31+1_32-1)dup - DMD_020101 - - - - Germline - - - - - Lucila Sandoval Ramirez
?/. 1 _1_1i c.(?_-182)_(-182_59)dup VUS r.? p.? g.(33038290_33229611)_(33357493_?)dup g.(33020173_33211494)_(33339376_?)dup c.-244_(31+1_32-1)dup - DMD_020101 - - - - Germline - - - - - Luz Berenice Lopez-Hernandez
+/. 10 _1_ c.(?_-1)_(31+1_94-1)del pathogenic (recessive) r.0?, r.0 p.0?, p.? g.(32867938_33229398)_(33229430_?)del - TD, Pr1(+) - DMD_040052, DMD_040356 TD, Pr1(+), Pm PubMed: Bermudez-Lopez 2014, PubMed: Ikezawa, PubMed: Taylor 2007, PubMed: Bellayou 2009 - - Germline, De novo yes - - - - Miguel Angel Alcántara-Ortigoza, Johan den Dunnen, Michael Buckley
+/. 1 _1_1i_ c.(?_-1)_(31+83220_94-1)del pathogenic (recessive) r.0? p.0 g.(32867938_33146179)_(33229430_?)del - - - DMD_040257 deletion muscle and Purkinje promoter PubMed: Carsana 2010 - - Unknown - - - - - Antonella Carsana
+/. 7 _1_2i c.(?_-182)_(59_128)del pathogenic (recessive) r.0?, r.0 p.0?, p.0 g.(32867903_33038290)_(33357493_?)del g.(32849786_33020173)_(33339376_?)del c.-244_(93+1_94-1)del, del ex1-2; c.-244_(93+1_94-1)del - DMD_010102 deletion muscle promoter PubMed: Covone 1991, PubMed: Polavarapu 2019, PubMed: Gilgenkrantz, PubMed: Zeng 2007, 2 more items - - Germline, Germline/De novo (untested), Unknown - - - - - Johan den Dunnen, Alessandra Ferlini, Antonella Carsana
+/. 2 _1_3i c.(?_-182)_(128_228)del pathogenic (recessive) r.?, r.0? p.?, p.0? g.(32862936_32867903)_(33357493_?)del g.(32844819_32849786)_(33339376_?)del del ex1-3; c.-244_(186+1_187-1)del, c.-244_(186+1_187-1)del - DMD_010103 - PubMed: Cho 2017, PubMed: Yuge - - Germline/De novo (untested), Germline - - - - - Moon-Woo Seong, Johan den Dunnen
+/. 1 _1_4i c.(?_-182)_(228_310)del pathogenic (recessive) r.0? p.0? g.(32841459_32862936)_(33357493_?)del g.(32823342_32844819)_(33339376_?)del c.-244_(264+1_265-1)del - DMD_010104 - PubMed: Yuge - - Germline - - - - - Johan den Dunnen
+/. 1 _1_5i c.(?_-182)_(310_411)del pathogenic (recessive) r.0? p.0? g.(32834704_32841459)_(33357493_?)del g.(32816587_32823342)_(33339376_?)del c.-244_(357+1_358-1)del - DMD_010105 - PubMed: Janssen 2005 - - Germline - - - - - Bart Janssen
+/. 1 _1_6i c.(?_-182)_(411_558)del pathogenic (recessive) r.? p.? g.(32827701_32834704)_(33357493_?)del g.(32809584_32816587)_(33339376_?)del del ex1-6; c.-244_(530+1_531-1)del - DMD_010106 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 10 _1_7i c.(?_-182)_(558_831+11)del pathogenic (recessive) r.0? p.0? g.(32717218_32827701)_(33357493_?)del g.(32699101_32809584)_(33339376_?)del c.-244_(649+1_650-1)del, del ex01-07; c.-244_(649+1_650-1)del - DMD_010107 - PubMed: Tuffery-Giraud 2009, UMD 2562 database, PubMed: Mital, PubMed: Zeng 2007, PubMed: Tomar 2019, 4 more items - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Mayana Zatz, Poh San Lai, Kevin Flanigan
+/. 1 _1_8i c.(?_-182)_(831+11_859)del pathogenic (recessive) r.0? p.0? g.(32716088_32717218)_(33357493_?)del g.(32697971_32699101)_(33339376_?)del c.-244_(831+1_832-1)del - DMD_010108 - PubMed: Tuffery-Giraud 2009, UMD 2415 database - - Germline - - - - - Johan den Dunnen
+/. 2 _1_9i c.(?_-182)_(859_988)del pathogenic (recessive) r.0?, r.? p.0?, p.(fs*) g.(32663242_32716088)_(33357493_?)del g.(32645125_32697971)_(33339376_?)del c.-244_(960+1_961-1)del, del ex01-09; c.-244_(960+1_961-1)del - DMD_010109 del incl. DXS1242; de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1558 database, PubMed: Tomar 2019 - - De novo, Germline/De novo (untested) - - - - - Johan den Dunnen, Poh San Lai
+/. 1 _1_9_ c.(?_-1)_(960+1_1332-1)del pathogenic (recessive) r.0? p.0? g.(32632571_32715986)_(33229430_?)del - - - DMD_040239 - PubMed: Taylor 2007 - - Germline - - - - - Michael Buckley
+/. 1 _1_11i c.(?_-182)_(1175_1403)dup pathogenic (recessive) r.? p.? g.(32632499_32662405)_(33357493_?)dup g.(32614382_32644288)_(33339376_?)dup c.-244_(1331+1_1332-1)dup - DMD_020111 - PubMed: Zeng 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 _1_12i c.(?_-182)_(1403_1602)del pathogenic (recessive) r.0? p.0? g.(32613874_32632499)_(33357493_?)del g.(32595757_32614382)_(33339376_?)del c.-244_(1482+1_1483-1)del - DMD_010112 - Jorge ESHG2006 P1191 - - Germline - - - - - Rosário dos Santos
+/. 2 _1_13i c.(?_-182)_(1602_1603-7)del pathogenic (recessive) r.?, r.0? p.?, p.0? g.(32591970_32613874)_(33357493_?)del g.(32573853_32595757)_(33339376_?)del del ex1-13; c.-244_(1602+1_1603-1)del, c.-244_(1602+1_1603-1)del - DMD_010113 - PubMed: Suh 2017, PubMed: Hodgson - - Germline/De novo (untested), Germline - - - - - Johan den Dunnen
+/. 1 _1_16i c.(?_-182)_(1852_2085)dup pathogenic (recessive) r.? p.? g.(32563359_32583959)_(33357493_?)dup g.(32545242_32565842)_(33339376_?)dup dup ex1-16; c.-244_(1992+1_1993-1)dup - DMD_020116 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - Moon-Woo Seong
+/. 1 _1_17i c.(?_-182)_(2085_2226)del pathogenic (recessive) r.0? p.0? g.(32536191_32563359)_(33357493_?)del g.(32518074_32545242)_(33339376_?)del c.-244_(2168+1_2169-1)del - DMD_010117 - - - - Germline - - - - - Mayana Zatz
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »