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.

86 entries on 1 page. Showing entries 1 - 86.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del ex51-54 del; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - Ayala-Ramirez, ASHG2017 P1070 - - Germline - - - - - DNA MLPA - - - Pat Ayala-Ramirez, ASHG2017 P1070 analysis 62 cases with suspected DMD M - Colombia - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(7310_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2614 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2614 database - M - Lebanon - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(7310_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Tuffery-Giraud 2009, UMD 2134 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2134 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(7310_8027del) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2216 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2216 database - M - France - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(7310_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - Vancso ESHG2008 P01.221 - - Germline - - - - - DNA MLPA - - MD - Vancso ESHG2008 P01.221 - M - Hungary - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(7310_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Piko 2009 - - Germline - - - - - DNA MLPA - - MD - PubMed: Piko 2009 analysis 135 BMD/DMD cases ? - Hungary - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(e51-e54del) p.fs Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del e51-e54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - DMD - PubMed: Chen 2013 - M - China - >4y - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(e51-e54del) p.fs Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del e51-e54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - MD - PubMed: Chen 2013 - M - China - >8y - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(7310_8027del) p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 carrier mother and sister PubMed: Gatta 2005 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Gatta 2005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(7310_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(7310_8027del) p.(fs*) Parent #1 - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - - - - Germline - - - - - DNA MLPA, PCR - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: López-Hernández 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD ? PubMed: López-Hernández 2015 - M - Mexico - - - - - 1 Luz Berenice Lopez-Hernandez
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del 51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat12 PubMed: Wang 2014 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Polavarapu 2019 - - Germline yes - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, family, several affected M - India - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - - - - Unknown - - - - - DNA MLPA peripheral blood - DMD - - - M - Peru - 10y - - - 1 Martin Cruz
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D20 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D183 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D198 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D263 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D272 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D364 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D729 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del ex51ex54del, c.7310-?_8027+?del - DMD_015154 - - - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - - - M - Italy - - - - - 1 Emiliano Giardina
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del ex51ex54del, c.7310-?_8027+?del  - DMD_015154 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del ex51ex54del, c.7310-?_8027+?del  - DMD_015154 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Monica Traverso
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del ex51ex54del, c.7310-?_8027+?del - DMD_015154 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Lorena Travaglini
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD0237 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD10952 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD1935 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD3307 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Zhang 2019 - - De novo - - - - - DNA MLPA - - BMD/DMD Pat36 PubMed: Zhang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Zhang 2019 - - De novo - - - - - DNA MLPA - - BMD/DMD Pat37 PubMed: Zhang 2019 patient M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 4/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Zhao 2018 - - Germline/De novo (untested) - 1/121 patients - - - DNA MLPA - - BMD/DMD - PubMed: Zhao 2018 analysis 121 unrelated male probands M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 4/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 4/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54; c.(7309+1_7310-1)_(8027+1_8028-1)del - DMD_015154 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 4/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (inferred) - likely pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del exon 51-54 deletion - DMD_015154 - - - - De novo - - - - - DNA PCRm Nil - DMD MDCRC/3696/DBI-2824 - dizygotic twins, brother unaffected M no India Indian - - Yes - 1 Lakshmi Bremadesam
+?/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del Exons 51-54 Deletion - DMD_015154 - - - - De novo - - - - - DNA PCRm Nil - DMD MDCRC/2854/DBI-2254 - IVF Twin M no India Indian - - Yes - 1 Lakshmi Bremadesam
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 possible overlap with cases from Ling 2020 PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Tong 2020 possible overlap with cases from Ling 2020 M - China - - - - - 1 Yi Dai
./. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
./. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
./. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - - - - Germline/De novo (untested) - - - - - DNA MLPA P034/P035 - BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del - - - DMD_015154 - PubMed: Luce 2021 - - Unknown - - - - - DNA MLPA BLOOD - MD #506 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del - - - DMD_015154 - PubMed: Luce 2021 - - Unknown - - - - - DNA MLPA BLOOD - MD #472 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del - - - DMD_015154 - PubMed: Luce 2021 - - Unknown - - - - - DNA MLPA BLOOD - MD #886 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 c.7310_8027del - DMD_015154 - PubMed: Triana-Fonseca 2021 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Triana-Fonseca 2021 - M - Colombia - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs*) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Patel 2021 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ, SEQ-NG - 29-gene panel MD P10 PubMed: Patel 2021 patient M - India India-W - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del - - DMD_015154 - PubMed: Yuan 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Yuan 2018 analysis 95 BMD cases M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Iskandar 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD DNM PubMed: Iskandar 2022 - M - Indonesia - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Niu 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat32 PubMed: Niu 2020 - M - China - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 2/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.(del) p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Dwianingsih 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD dmd30 PubMed: Dwianingsih 2023 - M - Indonesia - - - - - 1 Rusdy Ghazali Malueka
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - - Turkey - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 arr[NCBI 36] Xp21.1(31,559,374-31,745,483) DMD_015154 - PubMed: Ginjaar 2025, Journal: Ginjaar 2025 - - De novo - - - - - DNA arrayCGH, MLPA - - ? Pat18 PubMed: Ginjaar 2025, Journal: Ginjaar 2025 - F - - - - - - - 2 Hermine van Duyvenvoorde
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Sagi-Dain 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, no family history M - Israel - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Sagi-Dain 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, family history M - Israel - - - - - 1 Johan den Dunnen
+/. 50i_54i c.(7309+13_7422)_(7908_8068)del r.? p.? Unknown - pathogenic (recessive) g.(31645939_31676226)_(31792197_31838079)del g.(31627822_31658109)_(31774080_31819962)del del ex51-54 - DMD_015154 - PubMed: Luce 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #823 PubMed: Luce 2024 - M - Argentina - - - - glucocorteroid treatment 1 Florencia Giliberto
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.