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.

102 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs?) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Ramos 2016, Journal: Ramos 2016 - - Germline - - - - - DNA ? - - - - PubMed: Ramos 2016, Journal: Ramos 2016 - M - Puerto Rico - >25y - - no medication; no scoliosis surgery; 1 Manuel F. Mas Rodriguez
+/. 2i_7i c.(58_127)_(557_831+10)dup r.94_649dup p.Asp217Valfs*7 Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94+1)_(649+1_650-1)dup - DMD_020307 - PubMed: Punetha 2016 - - Germline yes - - - - DNA, RNA arrayCGH, RT-PCR, SEQ - - BMD/DMD FamPatIII1 PubMed: Punetha 2016 patient III1 M no United States - - - - - 1 Jaya Punetha
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup ex3ex7 dup; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - - - - Germline - - - - - DNA MLPA - - - - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2360 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2360 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 1656 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1656 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Tuffery-Giraud 2009, UMD 2767 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2767 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Tuffery-Giraud 2009, UMD 372 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 372 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Tuffery-Giraud 2009, UMD 373 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 373 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Tuffery-Giraud 2009, UMD 1021 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1021 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Tuffery-Giraud 2009, UMD 1022 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1022 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Tuffery-Giraud 2009, UMD 1023 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1023 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Tuffery-Giraud 2009, UMD 2326 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2326 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 2544 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 2544 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Lesca, UMD 134 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Lesca, UMD 134 database patient A/III-3 M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Lesca, UMD 2642 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Lesca, UMD 2642 database symptomatic DMD carrier; patient A/II-1 F - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Lesca, UMD 2641 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Lesca, UMD 2641 database symptomatic DMD carrier; patient A/III-1 F - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Tuffery-Giraud 2009, UMD 443 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 443 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Tuffery-Giraud 2009, UMD 374 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 374 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 de novo, in patient PubMed: Tuffery-Giraud 2009, UMD 13 database - - De novo - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 13 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Moizard 1998, UMD 1720 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Moizard 1998, UMD 1720 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(?) p.fs Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Lee 2012 - - Unknown - - - - - DNA MLPA - - DMD - PubMed: Lee 2012 - M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: White 2002 - - Germline - - - - - DNA MLPA, PCRm, Southern - - Healthy/Control - PubMed: White 2002 carrier mother DMD F - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - - - - Germline - - - - - DNA MLPA - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 change not detected by PTT; de novo, in mother (grandmaternal allele) PubMed: Tuffery-Giraud 2004 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2004 - M - France - - - - - 1 Mireille Claustres
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 change not detected by PTT; de novo, in mother (grandmaternal allele) PubMed: Tuffery-Giraud 2004 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2004 - M - France - - - - - 1 Mireille Claustres
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - Dworniczak ESHG2008 P01.204 - - Germline - - - - - DNA MLPA - - MD - Dworniczak ESHG2008 P01.204 - M - (Germany) - - - - - 1 Bernd Dworniczak
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Janssen 2005 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Janssen 2005 - M - (Germany) - - - - - 1 Bart Janssen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA, SEQ - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*?) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Taylor 2007 - - Germline - - - - - DNA MLPA - - BMD - PubMed: Taylor 2007 - M - Australia - - - - - 1 Michael Buckley
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 de novo, in patient - - - De novo - - - - - DNA MLPA - - DMD - - - M - Romania - - - - - 1 Elena Neagu
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Flanigan 2009 - - Germline - - - - - DNA MLPA - - DMD - PubMed: Flanigan 2009 - M - United States - - - - - 1 Kevin Flanigan
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - - - - Germline - - - - - DNA MLPA, PCRq - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup ex3ex7dup; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup ex3ex7dup; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(?) p.fs Parent #1 - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup ex3ex7dup; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Serbia - - - - - 1 Alessandra Ferlini
+?/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Unknown - likely pathogenic g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup 03-07; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - - - - Germline - - - - - DNA MLPA - - MD - - - F - Argentina - - - - - 1 Maria Roque Moreno
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(94_649dup) p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Carsana 2010 - - Unknown - - - - - DNA MLPA - - DMD - PubMed: Carsana 2010 - M - Italy - - - - - 1 Antonella Carsana
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Wang 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Wang 2017 analysis 131 BMD/DMD families, M - China - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Cho 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD Pat? PubMed: Cho 2017 - M - Korea - - - - - 1 Moon-Woo Seong
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Polavarapu 2019 analysis 606 BMD/DMD cases, isolated case M - India - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D841 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7; c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D842 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7, c.(93+1_94-1)_(649+1_650-1)dup - DMD_020307 - PubMed: Spitali 2019, Journal: Spitali 2019 - - Germline/De novo (untested) - - - - - DNA ? - - BMD/DMD - PubMed: Spitali 2019, Journal: Spitali 2019 - M - - - - - - - 1 Irina Zaharieva
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup ex3-7 dup - DMD_020307 - PubMed: Ansar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat12 PubMed: Ansar 2019 - M - Pakistan - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup ex3-7 dup - DMD_020307 - PubMed: Ansar 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat22 PubMed: Ansar 2019 - M - Pakistan - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup ex3ex7dup, c.94-?_649+?dup - DMD_020307 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 B. Augello
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup ex3ex7dup, c.94-?_649+?dup - DMD_020307 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Italy - - - - - 1 Vincenzo Nigro
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup - - DMD_020307 - - - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - - - M - Italy - - - - - 1 Giacomo Comi
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup - - DMD_020307 - - - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - - - M - Italy - - - - - 1 Giacomo Comi
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Luce 2016, Journal: Luce 2016 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD #183 PubMed: Luce 2016, Journal: Luce 2016 PubMed: Luce 2021 - M - Argentina - - - - - 1 Florencia Giliberto
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 1/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD6231 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Toksoy 2019 - - Germline - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0043 PubMed: Toksoy 2019 singleton patient, no family history, carrier mother M - Turkey - - - - - 1 Güven Toksoy
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - DMD CASE_0282 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - 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
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 2/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Wang 2019 - - Germline/De novo (untested) - 1/70 cases - - - DNA MLPA, SEQ - - BMD/DMD P48 PubMed: Wang 2019 analysis 70 unrelated MD families M - China - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Zhao 2018 - - Germline/De novo (untested) - 1/121 patients - - - DNA MLPA - - BMD/DMD M031 PubMed: Zhao 2018 analysis 121 unrelated male probands M - China - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - 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
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7, c.94-?_649+?dup - DMD_020307 - PubMed: Murugan 2010 - - Germline/De novo (untested) - 1/150 patients - - - DNA MLPA - - BMD/DMD - PubMed: Murugan 2010 analysis 150 unrelated DMD cases M - India - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs*) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7, c.94-?_649+?dup - DMD_020307 - PubMed: Rasic 2015 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat03 PubMed: Rasic 2015 analysis intellectual ability 41 DMD patients M - Serbia - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 and 44 - DMD_020307 non-contiguous duplication ex3-7 and 44 PubMed: Wang 2009 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D149 PubMed: Wang 2009 - M - China - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Wang 2009 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD 837 PubMed: Wang 2009 - M - China - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.fs Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup - - DMD_020307 - PubMed: Selvatici 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Selvatici 2020 - M - Ukraine - - - - - 1 Alessandra Ferlini
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - 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
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - 2/1042 cases - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2018, Journal: Ma 2018 analysis 1042 confirmed unrelated cases M - China - - - - - 1 Shiwen Wu
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kohli 2020 analysis 1660 BMD/DMD patients M - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kohli 2020 analysis 1660 BMD/DMD patients M - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kohli 2020 analysis 1660 BMD/DMD patients M - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kohli 2020 analysis 1660 BMD/DMD patients M - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kohli 2020 analysis 1660 BMD/DMD patients M - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kohli 2020 analysis 1660 BMD/DMD patients M - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Kohli 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Kohli 2020 analysis 1660 BMD/DMD patients M - India - - - - - 1 Sudha Kohli, Renu Saxena, Ratna Puri, I.C. Verma
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD ? PubMed: Takeshima 2010 analysis 442 BMD/DMD cases M - Japan - - - - - 1 Masafumi Matsuo
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.fs Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.fs Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 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
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Yun 2021 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat168 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs) Maternal (confirmed) - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Cohen 2022 - - Germline - - - - - DNA MLPA - - Healthy/Control - PubMed: Cohen 2022 analysis 12,362 females for DMD, brother with DMD (25y-deceased) F - Israel Arab;Muslim - - - - 2 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup - - DMD_020307 - PubMed: Yuan 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Yuan 2018 analysis 95 BMD cases M - China - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Niu 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat37 PubMed: Niu 2020 - M - China - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 6/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 6/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 6/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 6/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 6/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 6/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Suarez-Calvet 2023 - - Unknown - - - - - DNA MLPA - - DMD Pat2 PubMed: Suarez-Calvet 2023 quadriceps muscle biopsy single nuclei RNA sequencing M - - - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.(fs) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Singer 2023 - - Germline - 1/85,737 healthy females - - - DNA MLPA - - Healthy/Control - PubMed: Singer 2023 pan-ethnic female DMD carrier screening (85,737 tests) F - Israel - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - 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
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - 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
+/. 2i_7i c.(58_127)_(557_831+10)dup r.(del) p.(del) Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7,ex25 - DMD_020307 non-contiguous duplication ex3-7 and ex25 PubMed: Mori-Yoshimura 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Mori-Yoshimura 2018 - M - Japan - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Braga 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Braga 2023 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - 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
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - PubMed: Amr 2024 - - Germline/De novo (untested) - 1/1250 cases - - - DNA MLPA - - BMD/DMD - PubMed: Amr 2024 - M - Egypt - - - - - 1 Johan den Dunnen
+/. 2i_7i c.(58_127)_(557_831+10)dup r.? p.? Unknown - pathogenic (recessive) g.(32717219_32827702)_(32867904_33038291)dup g.(32699102_32809585)_(32849787_33020174)dup dup ex3-7 - DMD_020307 - 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
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


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