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.

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del ex47 del; c.(6762+1_6763-1)_(6912+1_6913-1)del - DMD_014747 - Ayala-Ramirez, ASHG2017 P1070 - - Germline - - - - - DNA MLPA - - - Pat Ayala-Ramirez, ASHG2017 P1070 analysis 62 cases with suspected DMD M - Colombia - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.(6763_6912del) p.(del?) Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del c.(6762+1_6763-1)_(6912+1_6913-1)del - DMD_014747 - PubMed: Tuffery-Giraud 2009, UMD 1857 database - - Germline - - - - - DNA MLPA - - DMD - PubMed: Tuffery-Giraud 2009, UMD 1857 database - M - France - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.(6763_6912del) p.(del?) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del c.(6762+1_6763-1)_(6912+1_6913-1)del - DMD_014747 - - - - Germline - - - - - DNA MLPA, Southern - - DMD - - - M - Netherlands - - - - - 1 Ieke Ginjaar
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.(6763_6912del) p.(fs*?) Parent #1 - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del c.(6762+1_6763-1)_(6912+1_6913-1)del - DMD_014747 - - - - Germline - - - - - DNA MLPA - - DMD - - - M - Greece - - - - - 1 Emmanouil Kanavakis
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Maternal (inferred) - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47; c.(6762+1_6763-1)_(6912+1_6913-1)del - DMD_014747 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del ex47del, c.6616-?_6912+?del - DMD_014747 - 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
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD1598 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - - - - Germline/De novo (untested) - - - - - DNA MLPA - P034/P035 BMD/DMD - - - M - India - - - - - 1 Shubha R Phadke
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - 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
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Mohammed 2018 - - Germline/De novo (untested) - 1/68 cases - - - DNA MLPA - - BMD/DMD Fam? PubMed: Mohammed 2018 analysis 68 unrelated DMD families M - Kuwait - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Mohammed 2018 - - Germline/De novo (untested) - 1/68 cases - - - DNA MLPA - - BMD/DMD FamB? PubMed: Mohammed 2018 analysis 68 unrelated DMD families M - Kuwait - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Mohammed 2018 - - Germline/De novo (untested) - 1/68 cases - - - DNA MLPA - - BMD/DMD FamC? PubMed: Mohammed 2018 analysis 68 unrelated DMD families M - Kuwait - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - 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
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 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
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 variant differs from variant observed in the proband PubMed: Zhong 2021 - - De novo - - - - - DNA MLPA - - Healthy/Control DMD195 PubMed: Zhong 2021 fetus M - China - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - 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
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del - - DMD_014747 - PubMed: Dama 2022 - - Germline/De novo (untested) - 2/195 cases - - - DNA MLPA, PCR - - BMD/DMD S26 PubMed: Dama 2022 analysis 49 one-exon deletion cases M - India - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del - - DMD_014747 - PubMed: Dama 2022 - - Germline/De novo (untested) - 2/195 cases - - - DNA MLPA, PCR - - BMD/DMD S27 PubMed: Dama 2022 analysis 49 one-exon deletion cases M - India - - - - - 1 Johan den Dunnen
+?/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown ACMG likely pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Reiner 2022 - - Germline - 1/16,467 controls - - - DNA MLPA, SEQ, SEQ-NG - custom gene panel Healthy/Control DMD-3 PubMed: Reiner 2022 carrier screening 73,755 controls F - United States - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Zinina 2022 - - Germline/De novo (untested) - 1/788 cases BMD/DMD - - - DNA MLPA - - BMD/DMD - PubMed: Zinina 2022 - M - Russia - - - - - 1 ALexandr Polyakov
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Nakamura 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Nakamura 2023 - M - Japan - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Braga 2023 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Braga 2023 patient M - Brazil - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat108 PubMed: Xie 2024 family M - China - - - - not treated 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - 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
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Sagi-Dain 2024 - - Germline - - - - - DNA MLPA - - BMD/DMD - PubMed: Sagi-Dain 2024 patient, family history M - Israel - - - - - 1 Johan den Dunnen
+/. 46i_47i c.(6705_6809)_(6809_7017)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31893386_31947816)_(31947816_31950254)del g.(31875269_31929699)_(31929699_31932137)del del ex47 - DMD_014747 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 1/943 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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