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.

72 entries on 1 page. Showing entries 1 - 72.
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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     
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2620 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2620 database - M - France - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2619 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2619 database - M - France - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2339 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2339 database - M - France - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 1668 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1668 database - M - France - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2964 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2964 database - M - France - 29y - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2965 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 2965 database - M - France - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 403 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 403 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 404 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 404 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 416 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 416 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 415 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 415 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 2880 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2880 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 765 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 765 database - M - France - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Tuffery-Giraud 2009, UMD 1786 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 1786 database - M - France - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - Juan ESHG2008 P06.183 - - Germline - - - - - DNA MLPA - - BMD - Juan ESHG2008 P06.183 - M - Spain - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - Juan ESHG2008 P06.183 - - Germline - - - - - DNA MLPA - - BMD - Juan ESHG2008 P06.183 - M - Spain - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Hwa 2007 - - Germline - - - - - DNA MLPA - - MD - PubMed: Hwa 2007 - ? - Taiwan - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup?) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - - - DNA MLPA, Southern - - BMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup?) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup?) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - France - - - - - 1 Mireille Claustres
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - Dworniczak ESHG2008 P01.203 - - Germline - - - - - DNA MLPA - - MD - Dworniczak ESHG2008 P01.203 - M - (Germany) - - - - - 1 Bernd Dworniczak
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Belgium - - - - - 1 Gert Matthijs
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup ex2ex7dup; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Unknown - - - - - DNA MLPA - - MD - - symptomatic carrier DMD F - Italy - - - - - 1 Alessandra Ferlini
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(?) p.no fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup ex2ex7dup; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Unknown - - - - - DNA MLPA - - MD - - symptomatic carrier DMD F - Italy - - - - - 1 Alessandra Ferlini
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Gualandi 2009 - - Germline - - - - - DNA MLPA, PCRq - - BMD - PubMed: Gualandi 2009 - M - Italy - - - - - 1 Alessandra Ferlini
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Gualandi 2009 - - Germline - - - - - DNA MLPA, PCRq - - BMD - PubMed: Gualandi 2009 Pat8 M - Italy - - - - - 1 Alessandra Ferlini
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Gualandi 2009 - - Germline - - - - - DNA MLPA, PCRq - - BMD - PubMed: Gualandi 2009 Pat9 M - Italy - - - - - 1 Alessandra Ferlini
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(del) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(32_649dup) p.(dup?) Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - - - - Germline - - - - - DNA MLPA - - BMD - - - M - Yugoslavia - - - - - 1 Jovan Pesović
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28610567-Pat312 PubMed: Deepha 2017 - M - India - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - 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
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.(del) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7; c.(31+1_32-1)_(649+1_650-1)dup - DMD_020207 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D792 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.(del) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup ex02ex07dup, c.32-?_649+?dup - DMD_020207 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Milena Cau
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.(del) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup ex2ex7dup, c.32-?_649+?dup  - DMD_020207 - 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
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.(del) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup ex2ex7dup, c.32-?_649+?dup - DMD_020207 - 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
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 2/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD6533 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - - - DNA MLPA, SEQ - - BMD/DMD dup PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - 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
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 and ex50-59 - DMD_020207 non-contiguous dup ex2-7 and ex50-59 PubMed: Zimowski 2014, PubMed: Zimowski 2013 - - Germline - 1/180 patients - - - DNA MLPA - - BMD/DMD Pat1299/FmD1299 PubMed: Zimowski 2014, PubMed: Zimowski 2013 4-generation family, 1 affected male, 1 carrier fetus, 4 heterozygous carrier females M - Poland - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 2/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Mah 2011 - - Germline/De novo (untested) - 2/773 cases - - - DNA MLPA, SEQ - - BMD/DMD dup PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 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
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 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
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 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
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.(dup) Maternal (confirmed) ACMG pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Nagabushana 2021 - - Germline - - - - - DNA MLPA - - DMD F45 PubMed: Nagabushana 2021 family, patient and heterozygous carrier mother M - India - - - - - 1 Atchayaram Nalini
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7; c.32-?_649+?dup - DMD_020207 - PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 - - Germline - 1/152 cases - - - DNA MLPA - - DMD DMD-230 PubMed: Guevara-Fujita 2021, Journal: Guevara-Fujita 2021 analysis 152 BMD/DMD cases M - Peru - - - - - 1 Maria Luisa Guevara Gil
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 and 45-51 - DMD_020207 non-contiguous duplication ex2-7 and 45-51 PubMed: Yun 2021 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat139 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Yun 2021 - - Germline - - - - - DNA MLPA, SEQ - - BMD Pat218 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 3/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 3/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 3/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Kekou 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kekou 2023 retrospective analysis of persistent hyperCKemia with/without muscle weakness - - Greece - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(del) p.(del) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Mori-Yoshimura 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Mori-Yoshimura 2018 - M - Japan - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Wijekoon 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD DMD122 PubMed: Wijekoon 2024 patient M - Sri Lanka - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - 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
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - 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
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.fs? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.fs? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ozkalayci 2024, Journal: Ozkalayci 2024 - M - Turkey - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Amr 2024 - - Germline/De novo (untested) - 1/1250 cases - - - DNA MLPA - - BMD/DMD - PubMed: Amr 2024 - M - Egypt - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - 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
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Sagi-Dain 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, family history M - Israel - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(dup) p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 3/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(dup) p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 3/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 1i_7i c.(-183_58)_(557_831+10)dup r.(dup) p.(dup) Unknown - pathogenic (recessive) g.(32717219_32827702)_(33038291_33229612)dup g.(32699102_32809585)_(33020174_33211495)dup dup ex2-7 - DMD_020207 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 3/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
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