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.

33 entries on 1 page. Showing entries 1 - 33.
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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     
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.(dup) Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup ex 3-9 dup; c.(93+1_94-1)_(960+1_961-1)dup - DMD_020309 - unpublished - - Germline - - - - - DNA MLPA, SEQ Peripheral blood leukocytes - - Pat4 PubMed: Navarro-Cobos 2017 2-generation family, 1 affected, only mother available for analysis M ? Mexico Mexican >40y - no - 1 Miguel Angel Alcántara-Ortigoza
+/. 2i_9i c.(58_127)_(858_987)dup r.(94_960dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup c.(93+1_94-1)_(960+1_961-1)dup - DMD_020309 - PubMed: Tuffery-Giraud 2009, UMD 2980 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 2980 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.(94_960dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup c.(93+1_94-1)_(960+1_961-1)dup - DMD_020309 - PubMed: Tuffery-Giraud 2009, UMD 1687 database - - Germline - - - - - DNA MLPA - - MD - PubMed: Tuffery-Giraud 2009, UMD 1687 database - M - France - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.(e3-e9dup) p.(dup) Parent #1 - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup e3-e9; c.(93+1_94-1)_(960+1_961-1)dup - DMD_020309 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >20y - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.(e3-e9dup) p.(dup) Parent #1 - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup e3-e9; c.(93+1_94-1)_(960+1_961-1)dup - DMD_020309 - PubMed: Chen 2013 - - Unknown yes - - - - DNA MLPA - - BMD - PubMed: Chen 2013 - M - China - >20y - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.(94_960dup) p.(dup) Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup c.(93+1_94-1)_(960+1_961-1)dup - DMD_020309 - - - - Germline - - - - - DNA MLPA, PCRq - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_9i c.(58_127)_(858_987)dup r.(94_960dup) p.(dup) Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup c.(93+1_94-1)_(960+1_961-1)dup - DMD_020309 - - - - Germline - - - - - DNA MLPA, PCRq - - MD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 2i_9i c.(58_127)_(858_987)dup r.(94_960dup) p.(dup) Maternal (inferred) - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup c.(93+1_94-1)_(960+1_961-1)dup - DMD_020309 - Dworniczak ESHG2008 P01.205 - - Germline - - - - - DNA MLPA - - MD - Dworniczak ESHG2008 P01.205 - M - (Germany) - - - - - 1 Bernd Dworniczak
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9; c.(93+1_94-1)_(960+1_961-1)dup - DMD_020309 - PubMed: Suh 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD Pat? PubMed: Suh 2017 - M - Korea - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.(del) Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9; c.(93+1_94-1)_(960+1_961-1)dup - DMD_020309 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D798 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Maternal (inferred) - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup c.[(59_128)_(859_988)dup;(2085_2226)_(6382_6538)dup] - DMD_020309 non-contiguous dup ex3-9 and dup ex18-44 - - - De novo - - - - - DNA MLPA - - DMD MDCRC/0190/B-198 - - M no India India - - Yes - 1 Lakshmi Bremadesam
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.(del) Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup ex3ex9dup, c.94-?_960+?dup  - DMD_020309 - 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_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 5/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD WY10 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Toksoy 2019 - - De novo - 1/260 cases - - - DNA MLPA, SEQ - - hCK CASE_0278 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier M - Turkey - - - - - 1 Güven Toksoy
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD dup PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 5/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 5/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 5/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Vieitez 2017 - - Germline/De novo (untested) - 5/284 cases - - - DNA MLPA - - BMD/DMD - PubMed: Vieitez 2017 analysis 284 male cases M - Spain - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 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_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 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_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Zamani 2022, Journal: Zamani 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Zamani 2022, Journal: Zamani 2022 - M - Iran - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.dup Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Alcantara-Ortigoza 2019 - - Germline/De novo (untested) - - - - - DNA MLPA - - MD DMD-640 PubMed: Alcantara-Ortigoza 2019 patient, no family history M - Mexico - - - - - 1 Miguel Angel Alcántara-Ortigoza
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup - - DMD_020309 - PubMed: Yuan 2018 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD - PubMed: Yuan 2018 analysis 95 BMD cases M - China - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.(dup) Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup del ex3-9, 94‐?_960+?dup - DMD_020309 - PubMed: Wonkam-Tingang 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Wonkam-Tingang 2020 - M - Cameroon - - - - - 1 Johan den Dunnen
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 1/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - 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_9i c.(58_127)_(858_987)dup r.? p.(dup) Unknown ACMG pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9, c.94-?_960+?dup - DMD_020309 ACMG PS4, PM2, PM4_Strong PubMed: Barbarii 2025 - - Germline - - - - - DNA MLPA - - DMD Indv238 PubMed: Barbarii 2025 - M - Romania - - - - - 1 Teodora Barbarii
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - PubMed: Nakamura 2024 - - Germline - - - - - DNA MLPA - - BMD Pat35 PubMed: Nakamura 2024 patient, family history M - Japan - - - - steroid therapy 1 Akinori Nakamura
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Unknown - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9 - DMD_020309 - 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
+/. 2i_9i c.(58_127)_(858_987)dup r.(94_960dup) p.(Phe32_Gln320dup) Maternal (confirmed) - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup dup ex3-9, c.(58_127)_(858_987)dup - DMD_020309 - PubMed: Orozco 2025, Journal: Orozco 2025 - - Germline - - - - - DNA MLPA peripheral blood - BMD/DMD 443370 PubMed: Orozco 2025, Journal: Orozco 2025 - M no Guatemala America-C;mestizo - - - - 1 Marcela Elizabeth Orozco Orozco
+/. 2i_9i c.(58_127)_(858_987)dup r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(32663243_32716089)_(32867904_33038291)dup g.(32645126_32697972)_(32849787_33020174)dup repeat ex3-9 - DMD_020309 - PubMed: Guo 2022 - - Germline - - - - - DNA MLPA, SEQ-NG - WES CCM, DMD patient PubMed: Guo 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother M - China - - - - - 1 Johan den Dunnen
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