All variants in the DMD gene

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     

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     

Owner     
+/. 0i_40i c.? r.? p.? - pathogenic (recessive) g.? - del ex1-29 ex40 - DMD_030140 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 3i_69i c.? r.? p.? - pathogenic (recessive) g.? - dup ex4-6 ex61-69 - DMD_030469 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 44i_63i c.? r.? p.? - pathogenic (recessive) g.? - dup ex45-55 ex63 - DMD_034563 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? r.? p.? - pathogenic (recessive) g.? - del 8-10,21-26 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? r.? p.? - pathogenic (recessive) g.? - dup 3-10,21-29 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? r.? p.? - pathogenic (recessive) g.? - dup 2-4; del 64 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? r.? p.? - pathogenic (recessive) g.? - dup 45; del 8-10,21-30,41 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 20 c.? r.(?) p.? - pathogenic (recessive) g.? - 2518G>T (Gln840*) - DMD_000000 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 67 c.? r.(?) p.? - pathogenic (recessive) g.? - 9669C>T (Arg3223*Ter) - DMD_000000 - PubMed: Yang 2019 - - Germline - 1/100 cases BMD/DMD - 0 - Johan den Dunnen
+/. 21 c.? r.(?) p.? - pathogenic (recessive) g.? - 2664C>T (Gln888Ter) - DMD_000000 - PubMed: Yang 2019 - - De novo - 1/100 cases BMD/DMD - 0 - Johan den Dunnen
+/. 18 c.? r.(?) p.(Ala765Cysfs*8) - pathogenic (recessive) g.? g.? 2292dup7 - USP9X_000005 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Monica Traverso
+/. - c.? - - - pathogenic (recessive) g.? g.? - - DMD_000000 non contiguous duplication of exons 45-50, 53, 68, 69, 72,73,75 - - - Germline - - - 0 - Lakshmi Bremadesam
?/. - c.? r.? p.? - VUS g.? - c.513T>A (H171Q) - USP9X_000005 - PubMed: Yu 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? r.? p.? - pathogenic (recessive) g.? - del ex3-4-6-8-12-13 - USP9X_000005 - Journal: El-Khoury 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 62i c.? r.(=) p.(=) - VUS g.? - g.-31285223_31285208dupTTCTTTCTTTCTTTCT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.-1081T>C - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.-955A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.-807A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.-583dupA - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.-451A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.-419A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.-342G>A - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.-181A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
-/. 1 c.? r.? p.? - benign g.? - NM_004006.2:g.-114dupT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.-29dupT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
-/. 1 c.? r.? p.? - benign g.? - NM_004006.2:g.-8T>A - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.32G>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.99A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? r.? p.? - VUS g.? - NM_004006.2:g.323A>C - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
+/. 2i_8i c.? r.? p.? - pathogenic (recessive) g.? - del ex3, 6, 8 - DMD_000000 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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