All variants in the DMD gene

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.

35522 entries on 356 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 77i_79 c.(10956_11046+43)_(*1524_?)dup r.(?) p.(?) - VUS (!) g.(?_31138513)_(31144716_31152277)dup g.(?_31120396)_(31126599_31134160)dup dup ex78-79 - DMD_027879 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - Johan den Dunnen
+/. 3i_79_ c.(128_228)_*2691{0}del r.? p.? - pathogenic (recessive) g.(?_31137345)_(32862937_32867903)del g.(?_31119228)_(32844820_32849786)del del ex4-79 - DMD_010479 - PubMed: Megarbane 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.? - 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 - - - - - Johan den Dunnen
+/. 44i_52i c.(6438+1_6439-1)_7660+1_7661-1)del r.? p.? - 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 - - - - - Johan den Dunnen
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.? - 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) - - - - - Madhuri Hegde
+/. 45i_79_ c.(6614+2302_6614+2352)_*2691{0} r.? p.? - 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) - - - - - Madhuri Hegde
+/. 46i_79 c.(6705_6809)_(*1524_?)del r.? p.? - pathogenic (recessive) g.(?_31138513)_(31947816_31950254)del g.(?_31120396)_(31929699_31932137)del del ex47-79 - DMD_014779 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 47i_52i c.(6912+1_6913-1)_()del r.? p.? - pathogenic (recessive) g.(31697577_31743342)_(31944322_31947815)del - - - DMD_068350 - PubMed: Shastry 2021 - - De novo - - - - - Johan den Dunnen
+/. 52i_79 c.(7628_7786)_(*1524_?)del r.? p.? - pathogenic (recessive) g.(?_31138513)_(31697578_31747780)del g.(?_31120396)_(31679461_31729663)del del ex53-79 - DMD_015379 - PubMed: Jaxybayeva 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 60i_79 c.(8967_9117)_(*1524_?)dup r.(?) p.(?) - VUS (!) g.(?_31138513)_(31366719_31462715)dup g.(?_31120396)_(31348602_31444598)dup dup ex61-79 - DMD_026179 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - Johan den Dunnen
?/. 62i_79 c.(9186_9245)_(*1524_?)dup r.(?) p.(?) - VUS (!) g.(?_31138513)_(31279113_31341753)dup g.(?_31120396)_(31260996_31323636)dup dup ex63-79 - DMD_026379 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - Johan den Dunnen
+/. 9i_79_ c.(960+17577_960+17627)_*2691{0} r.? p.? - 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) - - - - - Madhuri Hegde
+/. 67i_72i c.(9778_9856)_(10285_10362)0 r.? p.? - pathogenic (recessive) g.(31190497_31191699)_(31200973_31222107)0 g.(31172380_31173582)_(31182856_31203990)0 del ex68-72 - DMD_026872 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 10i_11i c.(987_1174)_(1174_13834del r.? p.(fs) - 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) - - - - - Johan den Dunnen
+/. 10i_11i c.(987_1174)_(1174_13834del r.? p.(fs) - 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) - - - - - Johan den Dunnen
+/. _1_79 c.(?_-183)_(*1524_?){0} r.? p.? - pathogenic (recessive) g.(?_31138513)_(33229612_?)del g.(?_31120396)_(33211495_?)del del ex1-79 - DMD_018079 - PubMed: Yamputchong 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 0i_1i c.-241_(31+1_32-1){0} r.? p.? - pathogenic (recessive) g.(33038290_33122034)_(33245415_33357494)del - - - DMD_068359 - PubMed: Shastry 2021 - - De novo - - - - - Johan den Dunnen
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.(fs*) - 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) - - - - - Chao Ling
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.? p.(fs*) - 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) - - - - - Chao Ling
+/. 0i_79_ c.-244(_-183)_(*1523_?){0} r.0? p.0? - 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) - - - - - Carmela Scuderi
+/. 0i_79 c.-244(_-183)_(*1524_?)del r.0? p.0? - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del del ex1-79 - DMD_010179 - PubMed: Singer 2023 - - Germline - 2/85,737 healthy females - - - Johan den Dunnen
+/. 0i_79 c.-244(_-183)_(*1524_?)del r.0? p.0? - pathogenic (recessive) g.(?_31138513)_(33229612_33357494)del g.(?_31120396)_(33211495_33339377)del del ex1-79 - DMD_010179 - PubMed: Singer 2023 - - Germline - 2/85,737 healthy females - - - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? - 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) - - - - - Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? - 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) - - - - - Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? - 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) - - - - - Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? - 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) - - - - - Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)del r.0? p.0? - 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) - - - - - Yi Dai
+/. 0i_1i c.-244(_-183)_(-183_58)dup r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33229612_33357494)dup g.(33020174_33211495)_(33211495_33339377)dup del ex1 - DMD_020101 - PubMed: Zamani 2022, Journal: Zamani 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - 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) - - - - - Vincenzo Nigro
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - 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) - - - - - Emiliano Giardina
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - 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) - - - - - Lorena Travaglini
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - 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 - - - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - 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 - - - Güven Toksoy
+/. 0i_1i c.-244(_-183)_(-183_58){0} r.? p.? - 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 - - - Güven Toksoy
+/. 0i_1i c.-244(_-183)_(-183_58){2} r.? p.? - 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 - - - Johan den Dunnen
+/. 0i_1i c.-244(_-183)_(-183_59){0} r.? p.(fs*) - pathogenic (recessive) g.(33038291_33229612)_(33229611_33357494)del g.(33020174_33211495)_(33211495_33339377)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
?/. 0i_12i c.-244(_-183)_(1384_1601)dup r.(?) p.(?) - VUS (!) g.(32613875_32632518)_(33229612_33357494)dup g.(32595758_32614401)_(33211495_33339377)dup dup ex1-12 - DMD_020112 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - Johan den Dunnen
+/. 0i_12i c.-244(_-183)_(1384_1601){0} r.? p.(fs*) - 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) - - - - - Dr Silvana Tedeschi
+/. 0i_13i c.-244(_-183)_(1601_1603-8){0} r.? p.0? - 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) - - - - - Florencia Giliberto
-?/. 0i_15i c.-244(_-183)_(1766_1851)dup r.(?) p.(?) - likely benign g.(32583960_32591693)_(33229612_33357494)dup g.(32565843_32573576)_(33211495_33339377)dup dup ex1-15 - DMD_020115 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - Johan den Dunnen
+/. 0i_16i c.-244(_-183)_(1851_2084){0} r.? p.(fs*) - 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) - - - - - Chao Ling
+/. 0i_18i c.-244(_-183)_(2225_2293-10)del r.? p.? - pathogenic (recessive) g.(32519969_32536192)_(33229612_33357494)del g.(32501852_32518075)_(33211495_33339377)del del ex1-18 - DMD_010118 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 0i_18i c.-244(_-183)_(2225_2293-10)del r.? p.? - pathogenic (recessive) g.(32519969_32536192)_(33229612_33357494)del g.(32501852_32518075)_(33211495_33339377)del del ex1-18 - DMD_010118 - PubMed: Jaxybayeva 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 0i_18i c.-244(_-183)_(2225_2293-10){0} r.? p.0? - 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 - - - Johan den Dunnen
+/. 0i_6i c.-244(_-183)_(410_557)del r.? p.? - pathogenic (recessive) g.(32827702_32834705)_(33229612_33357494)del g.(32809585_32816588)_(33211495_33339377)del del ex1-6 - DMD_010106 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 0i_6i c.-244(_-183)_(410_557){0} r.0? p.0? - 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) - - - - - Johan den Dunnen
?/. 0i_7i c.-244(_-183)_(557_831+10)dup r.(?) p.(?) - VUS (!) g.(32717219_32827702)_(33229612_33357494)dup g.(32699102_32809585)_(33211495_33339377)dup dup ex1-7 - DMD_020107 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 3/85,737 healthy females - - - Johan den Dunnen
?/. 0i_7i c.-244(_-183)_(557_831+10)dup r.(?) p.(?) - VUS (!) g.(32717219_32827702)_(33229612_33357494)dup g.(32699102_32809585)_(33211495_33339377)dup dup ex1-7 - DMD_020107 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 3/85,737 healthy females - - - Johan den Dunnen
?/. 0i_7i c.-244(_-183)_(557_831+10)dup r.(?) p.(?) - VUS (!) g.(32717219_32827702)_(33229612_33357494)dup g.(32699102_32809585)_(33211495_33339377)dup dup ex1-7 - DMD_020107 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 3/85,737 healthy females - - - Johan den Dunnen
+/. 0i_2i c.-244(_-183)_(58_127)del r.0? p.0? - pathogenic (recessive) g.(32867904_33038291)_(33229612_33357494)del g.(32849787_33020174)_(33211495_33339377)del del ex1-2 - DMD_010102 - PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - Johan den Dunnen
?/. 0i_2i c.-244(_-183)_(58_127)dup r.(?) p.(?) - VUS (!) g.(32867904_33038291)_(33229612_33357494)dup g.(32849787_33020174)_(33211495_33339377)dup dup ex1-2 - DMD_020102 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 2/85,737 healthy females - - - Johan den Dunnen
?/. 0i_2i c.-244(_-183)_(58_127)dup r.(?) p.(?) - VUS (!) g.(32867904_33038291)_(33229612_33357494)dup g.(32849787_33020174)_(33211495_33339377)dup dup ex1-2 - DMD_020102 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 2/85,737 healthy females - - - Johan den Dunnen
+/. 0i_2i c.-244(_-183)_(58_127){0} r.? p.(fs*) - 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) - - - - - Chao Ling
+/. 0i_2i c.-244(_-183)_(58_127){0} r.0? p.0? - 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) - - - - - Alessandra Ferlini
+/. 0i_2i c.-244(_-183)_(58_127){0} r.? p.? - 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 - - - Johan den Dunnen
+/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.? - 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) - - - - - Vincenzo Nigro
+/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.? - 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) - - - - - Vincenzo Nigro
+?/. 0i_2i c.-244(_-183)_(58_127){2} r.? p.? - 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) - - - - - Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 0i_43i c.-244(_-183)_(6195_6381){0} r.? p.? - 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 - - - Johan den Dunnen
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.(fs*) - 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) - - - - - B. Augello
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.? - 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) - - - - - Lorena Travaglini
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.0? p.0? - 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) - - - - - Carmela Scuderi
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.? - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del del ex1-44 - DMD_010144 - PubMed: Zhang 2019 - - Germline - - - - - Johan den Dunnen
+/. 0i_47i c.-244(_-183)_(6809_7017){0} r.? p.? - 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 - - - Johan den Dunnen
+/. 0i_48i c.-244(_-183)_(7017_7099-11)del r.? p.? - 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) - - - - - Yi Dai
+/. 0i_48i c.-244(_-183)_(7017_7099-11){0} r.? p.(fs*) - 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) - - - - - Chao Ling
./. 0i_55i c.-244(_-183)_(8068_8390+10){0} r.? p.? - pathogenic (recessive) g.(31525388_31645939)_(33229612_33357494)del g.(31507271_31627822)_(33211495_33339377)del del ex1-55 - DMD_010055 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. 0i_9i c.-244(_-183)_(858_987)del r.? p.? - 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) - - - - - Yi Dai
+/. 0i_9i c.-244(_-183)_(858_987){0} r.? p.(fs*) - 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) - - - - - Chao Ling
+/. 0i_60i c.-244(_-183)_(8967_9117){0} r.? p.? - 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) - - - - - Lorena Travaglini
+/. 0i_60i c.-244(_-183)_(8967_9117){0} r.? p.? - pathogenic (recessive) g.(31366719_31462715)_(33229612_33357494)del g.(31348602_31444598)_(33211495_33339377)del del ex1-60 - DMD_010160 - PubMed: Zhang 2019 - - Germline - - - - - Johan den Dunnen
+/. 0i_62i c.-244(_-183)_(9186_9245)del r.? p.? - pathogenic (recessive) g.(31279113_31341753)_(33229612_33357494)del g.(31260996_31323636)_(33211495_33339377)del del ex1-62 - DMD_010162 - PubMed: Jaxybayeva 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 0i_62i c.-244(_-183)_(9186_9245){0} r.? p.? - 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 - - - Johan den Dunnen
+/. _0_79 c.-244_(*1524_?){0} r.0? p.0? - 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 - - - Johan den Dunnen
+/. _0_1i c.-244_(-183_58){0} r.? p.(fs*) - pathogenic (recessive) g.(33038290_33357494)_(33357494_?)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) - - - - - Chao Ling
+/. _0_1i c.-244_(-183_58){0} r.? p.(fs*) - pathogenic (recessive) g.(33038290_33357494)_(33357494_?)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) - - - - - Chao Ling
+/. _0_1i c.-244_(-183_58){0} r.? p.0? - pathogenic (recessive) g.(33038291_33229612)_(33357494_?)del g.(33020174_33211495)_(33339377_?)del del Dp427c/ex1, c.(?_-128297)_31+?del - DMD_010001 - PubMed: Rasic 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
./. _0_1i c.-244_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33357494_?)del g.(33020174_33211495)_(33339377_?)del del exDp427c-1 - DMD_010001 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
./. _0_1i c.-244_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33357494_?)del g.(33020174_33211495)_(33339377_?)del del exDp427c-1 - DMD_010001 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. _0_1i c.-244_(-183_58){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33357494_?)del g.(33020174_33211495)_(33339377_?)del del Dp427c-ex1 - DMD_010001 - PubMed: Yun 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. _0_1i c.-244_(-183_58){2} r.? p.? - 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 - - - Johan den Dunnen
-?/. _0_1i c.-244_(-183_58){2} r.? p.? - likely benign g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup ex1 - DMD_020001 - PubMed: Cohen 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. _0_1i c.-244_(-183_58){2} r.? p.? - likely benign g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup ex1 - DMD_020001 - PubMed: Cohen 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. _0_1i c.-244_(-183_58){2} r.? p.? - likely benign g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup ex1 - DMD_020001 - PubMed: Cohen 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. _0_1i c.-244_(-183_58){2} r.? p.? - likely benign g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup ex1 - DMD_020001 - PubMed: Cohen 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. _0_1i c.-244_(-183_58){2} r.(?) p.(?) - VUS (!) g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup ex1c-1 - DMD_020001 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - Johan den Dunnen
+/. _0_1i c.-244_(-183_58){2} r.(del) p.(del) - pathogenic (recessive) g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup Dp427c-ex1 - DMD_020001 - PubMed: Mori-Yoshimura 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. _0_1i c.-244_(-183_58){2} r.(del) p.(del) - pathogenic (recessive) g.(33038291_33229612)_(33357494_?)dup g.(33020174_33211495)_(33339377_?)dup dup Dp427c-ex1 - DMD_020001 - PubMed: Mori-Yoshimura 2018 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. _0_1i c.-244_(-18{0}2_59){0} r.? p.? - pathogenic (recessive) g.(33038291_33229612)_(33357494_?)del g.(33020174_33211495)_(33339377_?)del del exDp427c-1 - DMD_010001 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
+/. _0_3i c.-244_(127_227){0} r.? p.? - pathogenic (recessive) g.(32862937_32867904)_(33357494_?)del g.(32844820_32849787)_(33339377_?)del del ex0-3 - DMD_010003 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. _0_3i c.-244_(127_227){0} r.? p.? - pathogenic (recessive) g.(32862937_32867904)_(33357494_?)del g.(32844820_32849787)_(33339377_?)del del ex0-3 - DMD_010003 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. _0_12i c.-244_(1384_1601){2} r.(?) p.(?) - VUS (!) g.(32613875_32632518)_(33357494_?)dup g.(32595758_32614401)_(33339377_?)dup dup ex1c-12 - DMD_020012 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - Johan den Dunnen
./. _0_17i c.-244_(2085_2226){0} r.? p.? - pathogenic (recessive) g.(32536191_32563359)_(33357494_?)del g.(32518074_32545242)_(33339377_?)del del exDp427c-17 - DMD_010017 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
+/. _1_ c.-244_(31+1_94-1){0} r.? p.? - 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) - - - - - Johan den Dunnen
+/. _0_39i c.-244_(5449-4_5587-23){0} r.? p.(fs*) - pathogenic (recessive) g.(32361426_32364201)_(33357494_?)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) - - - - - Chao Ling
?/. _0_7i c.-244_(557_831+10){2} r.(?) p.(?) - VUS (!) g.(32717219_32827702)_(33357494_?)dup g.(32699102_32809585)_(33339377_?)dup dup ex1c-7 - DMD_020007 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 2/85,737 healthy females - - - Johan den Dunnen
?/. _0_7i c.-244_(557_831+10){2} r.(?) p.(?) - VUS (!) g.(32717219_32827702)_(33357494_?)dup g.(32699102_32809585)_(33339377_?)dup dup ex1c-7 - DMD_020007 detected additional copy in healthy female (location copy unknown) PubMed: Singer 2023 - - Germline - 2/85,737 healthy females - - - Johan den Dunnen
+/. _0_2i c.-244_(59_128){0} r.? p.(fs*) - pathogenic (recessive) g.(32867903_33038290)_(33357494_?)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) - - - - - Chao Ling
+/. _0_2i c.-244_(59_128){0} r.? p.? - pathogenic (recessive) g.(32867903_33038290)_(33357494_?)del g.(32849786_33020173)_(33339377_?)del del exDp427c-2 - DMD_010002 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - Johan den Dunnen
./. 0i_2i c.-244_(59_128){0} r.? p.? - pathogenic (recessive) g.(32867903_33038290)_(33357494_?)del g.(32849786_33020173)_(33339377_?)del del ex1-2 - DMD_010002 - - - - Germline/De novo (untested) - - - - - Shubha R Phadke
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »