All transcript variants in 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)     

ClassClinical     

RNA change     

Protein     

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     
+/. _1_40i c.? pathogenic (recessive) r.? p.? g.? - del ex1-29 ex40 - DMD_030140 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 3i_69i c.? pathogenic (recessive) r.? p.? g.? - dup ex4-6 ex61-69 - DMD_030469 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 44i_63i c.? pathogenic (recessive) r.? p.? g.? - dup ex45-55 ex63 - DMD_034563 - PubMed: Deepha 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 12i_51i c.? pathogenic (recessive) r.? p.? g.? - del ex13 and 46-51 - DMD_031351 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 2i_8i c.? pathogenic (recessive) r.? p.? g.? - del ex3, 6, 8 - DMD_030308 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 47i_51i c.? pathogenic (recessive) r.? p.? g.? - del ex48, 49, 51 - DMD_034851 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 16i_46i c.? pathogenic (recessive) r.? p.? g.? - del ex17-20 / 37-40 / 45-46 - DMD_031746 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_43i c.? pathogenic (recessive) r.? p.? g.? - del ex1-29 / dup ex37-43 - DMD_030143 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 39i_53i c.? pathogenic (recessive) r.? p.? g.? - dup ex40 / del ex45-53 - DMD_034053 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 51i_79_ c.? pathogenic (recessive) r.? p.? g.? - dup ex52-60 / 68-79 - DMD_035280 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 55i_71i c.? pathogenic (recessive) r.? p.? g.? - dup ex56-60 / 62-71 - DMD_035671 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_43i c.? pathogenic (recessive) r.? p.? g.? - dup ex1, ex42-43 - DMD_030143 - - - - Germline/De novo (untested) - - - 0 - Luz Berenice Lopez-Hernandez
+/. _1_43i c.? pathogenic (recessive) r.? p.? g.? - dup ex1, ex42-43 - DMD_030143 - - - - Germline/De novo (untested) - - - 0 - Luz Berenice Lopez-Hernandez
+/. 9i_44i c.? pathogenic (recessive) r.? p.? g.? - dup ex10-44 - DMD_031044 - - - - Germline/De novo (untested) - - - 0 - Luz Berenice Lopez-Hernandez
+/. - c.? pathogenic (recessive) r.? p.? g.? - del 8-10,21-26 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? g.? - dup 3-10,21-29 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? g.? - dup 2-4; del 64 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. - c.? pathogenic (recessive) r.? p.? g.? - dup 45; del 8-10,21-30,41 - USP9X_000005 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 56 c.? pathogenic (recessive) r.(?) p.? g.? - 8475G>A (Trp2915*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 33 c.? pathogenic (recessive) r.(?) p.? g.? - 4567G>T (Glu1523*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 17 c.? pathogenic (recessive) r.(?) p.? g.? - 2006T>C (Val669*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 16 c.? pathogenic (recessive) r.(?) p.? g.? - 1938T>A (Cys646*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 12 c.? pathogenic (recessive) r.(?) p.? g.? - 1339C>T (Gly447*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? g.? - 1255C>T (Gln419*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 10 c.? pathogenic (recessive) r.(?) p.? g.? - c.984C>T (Arg1662*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 18 c.? pathogenic (recessive) r.(?) p.? g.? - c.2260C>T (Arg754*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 7 c.? pathogenic (recessive) r.(?) p.? g.? - 541C>T (Gln181*) - USP9X_000005 - PubMed: Ma 2018 - - De novo - - - 0 - Johan den Dunnen
+/. 25 c.? pathogenic (recessive) r.(?) p.? g.? - 3061C>T (Gln1021*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 2 c.? pathogenic (recessive) r.(?) p.? g.? - 77A>G (Asn26*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 25 c.? pathogenic (recessive) r.(?) p.? g.? - 3028G>T (Glu1010*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? g.? - 1305G>A (Ser443*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 7 c.? pathogenic (recessive) r.(?) p.? g.? - 559C>T (Gln187*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 23 c.? pathogenic (recessive) r.(?) p.? g.? - 3034delC (Ser1012Leufs*32) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? g.? - 1305G>A (Ser443*) - USP9X_000005 - PubMed: Ma 2018 - - De novo - - - 0 - Johan den Dunnen
+/. 20 c.? pathogenic (recessive) r.(?) p.? g.? - 2518G>T (Gln840*) - USP9X_000005 - PubMed: Ma 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 11 c.? pathogenic (recessive) r.(?) p.? g.? - 1255C>T (Gln419*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 35 c.? pathogenic (recessive) r.(?) p.? g.? - 4561G>T (Glu1523*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 18 c.? pathogenic (recessive) r.(?) p.? g.? - 2260C>T (Arg754*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 10 c.? pathogenic (recessive) r.(?) p.? g.? - 984C>T (Arg1662*) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 33 c.? pathogenic (recessive) r.(?) p.? g.? - 4587del (Lys1529Asnfs*13) - USP9X_000005 - PubMed: Ma 2018 - - Germline - - - 0 - Johan den Dunnen
?/. 62i c.? VUS r.(=) p.(=) g.? - g.-31285223_31285208dupTTCTTTCTTTCTTTCT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.-1081T>C - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.-955A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.-807A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.-583dupA - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.-451A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.-419A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.-342G>A - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.-181A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
-/. 1 c.? benign r.? p.? g.? - NM_004006.2:g.-114dupT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.-29dupT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
-/. 1 c.? benign r.? p.? g.? - NM_004006.2:g.-8T>A - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.32G>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.99A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
?/. 1 c.? VUS r.? p.? g.? - NM_004006.2:g.323A>C - DMD_000000 - from website {DBsub-Emory} - - Germline - - - 0 - Madhuri Hegde
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