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.

55 entries on 1 page. Showing entries 1 - 55.
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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     
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(7099_7542del) p.(del) Maternal (inferred) - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del c.(7098+1_7099-1)_(7542+1_7543-1)del - DMD_014951 - PubMed: Tuffery-Giraud 2009, UMD 630 database - - Germline - - - - - DNA MLPA - - BMD - PubMed: Tuffery-Giraud 2009, UMD 630 database - M - (France) - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del e49-51; c.(7098+1_7099-1)_(7542+1_7543-1)del - DMD_014951 - PubMed: Rani 2013, Journal: Rani 2013 - - Germline yes 1/35 cases - - - DNA MLPA - - BMD - PubMed: Rani 2013, Journal: Rani 2013 - M - Malaysia - >7y - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(?) p.no fs? Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del ex49ex51del; c.(7098+1_7099-1)_(7542+1_7543-1)del - DMD_014951 - - - - Unknown - - - - - DNA MLPA - - DMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(7099_7542del) p.(del) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del c.(7098+1_7099-1)_(7542+1_7543-1)del - DMD_014951 - - - - Germline - - - - - DNA MLPA, PCR - - BMD, CMD3B - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(7099_7542del) p.(del) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del c.(7098+1_7099-1)_(7542+1_7543-1)del - DMD_014951 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(7099_7542del) p.(del) Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del c.(7098+1_7099-1)_(7542+1_7543-1)del - DMD_014951 - - - - Germline - - - - - DNA MLPA, PCR - - BMD - - - M - Italy - - - - - 1 Alessandra Ferlini
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51; c.(7098+1_7099-1)_(7542+1_7543-1)del - DMD_014951 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D58 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51; c.(7098+1_7099-1)_(7542+1_7543-1)del - DMD_014951 - PubMed: Ling 2020, Journal: Ling 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD D70 PubMed: Ling 2020, Journal: Ling 2020 - M - China - - - - - 1 Chao Ling
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del ex49ex51del, c.7099-?_7542+?del  - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del ex49ex51del, c.7099-?_7542+?del  - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Guo 2015 - - Germline/De novo (untested) - 1/613 cases - - - DNA MLPA - - DMD MD7177 PubMed: Guo 2015 analysis 613 cases M - China - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49ex51, c.7099-?_7542+?del - DMD_014951 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Neri 2020, Journal: Neri 2020 - M - Benin - - - - - 1 Filippo Maria Santorelli
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Zhang 2019 - - Germline - - - - - DNA MLPA - - BMD/DMD Pat50 PubMed: Zhang 2019 patient and carrier mother M - China - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - BMD/DMD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Mah 2011 - - Germline/De novo (untested) - 1/773 cases - - - DNA MLPA, SEQ - - MD del PubMed: Mah 2011 analysis 773 patients with confirmed diagnosis M - Canada - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.del Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Lim 2020 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Lim 2020 - - - Canada - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Yun 2021 - - Germline - - - - - DNA MLPA, SEQ - - DMD Pat166 PubMed: Yun 2021 possible duplicate older publication M - Korea - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Ma 2022 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD - PubMed: Ma 2022 - M - China - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown ACMG pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Reiner 2022 - - Germline - 1/16,467 controls - - - DNA MLPA, SEQ, SEQ-NG - custom gene panel Healthy/Control DMD-9 PubMed: Reiner 2022 carrier screening 73,755 controls F - United States - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 novel variant 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.? Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? - Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex10-47, ex49-51 - DMD_014951 non contiguous deletion ex10-47 and ex49-51 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? - Parent #1 - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex45-47, ex49-51 - DMD_014951 non contiguous deletion ex45-47 and e49-51 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
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.(del) Unknown ACMG pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51,  c.7099-?_7542+?del - DMD_014951 ACMG PS4, PM1, PM2, PM4 PubMed: Barbarii 2025 - - Germline - - - - - DNA MLPA - - DMD Indv202 PubMed: Barbarii 2025 - M - Romania - - - - - 1 Teodora Barbarii
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.? p.(fs) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Xie 2024 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ-NG - - MD Pat181 PubMed: Xie 2024 patient M - China - - - - not treated 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(del) p.(del) Unknown - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Gorgoglione 2025 - - Germline/De novo (untested) - 11/943 BMD cases - - - DNA MLPA - - BMD/DMD - PubMed: Gorgoglione 2025 individual has probably been reported previously M - Italy - - - - - 1 Johan den Dunnen
+/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(?) p.(del) Maternal (confirmed) - pathogenic (recessive) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 - PubMed: Riguzzi 2025, Journal: Riguzzi 2025 - - Germline - - - - - DNA MLPA - - BMD - PubMed: Riguzzi 2025, Journal: Riguzzi 2025 family, 2 affected; analysis 163 BMD patients M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+?/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(7099_7542del) p.(Glu2367_Lys2514del) Maternal (confirmed) - VUS (!) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 2 individuals with no muscle weakness - - - Germline yes - - - - DNA MLPA, SEQ - - ? Fam2PatIII1 PubMed: Kord 2026 3-generation family, 2 brothers, mother, maternal grandfather M - Canada - - - - - 4 Johan den Dunnen
+?/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(7099_7542del) p.(Glu2367_Lys2514del) Maternal (confirmed) - VUS (!) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 three unaffected male individuals; carries 11p14.3 deleton (VUS) PubMed: Kord 2026 - - Germline - - - - - DNA MLPA - - ? Fam2PatIII2 PubMed: Kord 2026 brother M - Canada - - - - - 1 Johan den Dunnen
+?/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(7099_7542del) p.(Glu2367_Lys2514del) Maternal (confirmed) - VUS g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 rr[hg19]Xp21.1 (31,761,311–31,864,900)x0 DMD_014951 two unaffected male individuals PubMed: Murdock 2021 - - Germline - - - - - DNA arrayCGH, MAPH - - ? FamPatIII1 PubMed: Kord 2026 3-generation family, boy, mother, maternal grandfather M - Canada - - - - - 3 Johan den Dunnen
+?/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(7099_7542del) p.(Glu2367_Lys2514del) Paternal (confirmed) - VUS (!) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 carries also 7q11.2 microdeletion (Williams syndrome, pathogenic), 1q21.1 deletion (1q21.1 deletion syndrome, pathogenic) PubMed: Kord 2026 - - Germline - - - - - DNA arrayCGH, MLPA - - WBS Fam3PatII4 PubMed: Murdock 2021 mother F - Canada - - - - - 1 Johan den Dunnen
+?/. 48i_51i c.(7017_7099-11)_(7422_7628)del r.(7099_7542del) p.(Glu2367_Lys2514del) Unknown - VUS (!) g.(31747780_31792197)_(31854947_31893386)del g.(31729663_31774080)_(31836830_31875269)del del ex49-51 - DMD_014951 two unaffected male individuals PubMed: Kord 2026 - - Germline/De novo (untested) yes - - - - DNA MIP - - ? Fam3PatI1 PubMed: Kord 2026 maternal grandfather F - Canada - - - - - 1 Johan den Dunnen
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