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.

49 entries on 1 page. Showing entries 1 - 49.
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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     
-?/. 54i_55i c.?_?ins[8217+17710_8547+4095;[NC_000023.10:g.26660608_26667229del]] r.= p.= Maternal (confirmed) - benign g.26667229_26667230ins[31510811_31628081;26660608_26667229] g.26649112_26649113ins[31492694_31609964;26642491_26649112] - - DMD_000000 116 kb DMD segment inserted in direct orientation 4.8 Mb downstream to DMD in VENTXP1 intron 3 followed by a 6.6 kb VENTXP1 tandem duplication PubMed: Seiwert 2026, Journal: Seiwert 2026 - - Germline - - - - - DNA arrayCGH, OM, SEQ-NG - - ? Pat1 PubMed: Seiwert 2026, Journal: Seiwert 2026 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. _0_79_ c.(?_-128065)_(*1524_?)dup r.0 p.0 Unknown - pathogenic (recessive) g.(?_31138513)_(33357494_?)dup g.(?_31120396)_(33339377_?)dup - - DMD_000000 - PubMed: Stankovic 2025 - - Germline/De novo (untested) - - - - - DNA MLPA - - ? Pat1 PubMed: Stankovic 2025 2-generation family, 1 affected M - Serbia - 00y07m - - - 1 Johan den Dunnen
+/. _1_ c.(-24870571_-13170572)delins[NC_000011.9:g.(63400001_77100000)_qterinv] r.? p.? Unknown - pathogenic (recessive) g.pter_(46400001_58100000)delins[NC_000011.9:g.(63400001_77100000)_qterinv] g.pter_(47600001_58100000)delins[NC_000011.10:g.(63600001_77400000)_qterinv] - 46XX,t(X;11)(p11.2;q13)inv(X)(p11.2;p21) DMD_000000 - PubMed: Liu 2023 - - Germline/De novo (untested) - - - - - DNA microscope - - BMD/DMD Pat14 PubMed: Liu 2023 no family history F - China - - - - - 1 Johan den Dunnen
+/. (57i_79_) c.(8548-2780_*1840035)delins[NC_000003.11:g.(160700001_167600000)_qterinv] r.? p.? Unknown - pathogenic (recessive) g.pter_(29300001_31500000)delins[NC_000003.11:g.(160700001_167600000)_qterinv] g.pter_(29300001_31500000)delins[NC_000003.12:g.(161000001_167900000)_qterinv] - 46XX,t(X;3)(p21.2;q26.1) DMD_000000 - PubMed: Liu 2023 - - Germline/De novo (untested) - - - - - DNA microscope - - BMD/DMD Pat9 PubMed: Liu 2023 no family history F - China - - - - - 1 Johan den Dunnen
+/. (57i_79_) c.(8548-2780_*1840035)delins[NC_000005.9:g.(139500001_144500000)_qterinv] r.? p.? Unknown - pathogenic (recessive) g.pter_(29300001_31500000)delins[NC_000005.9:g.(139500001_144500000)_qterinv] g.pter_(29300001_31500000)delins[NC_000005.10:g.(140100001_145100000)_qterinv] - 46XX,t(X;5)(p21.2;q31.3) DMD_000000 - PubMed: Liu 2023 - - Germline/De novo (untested) - - - - - DNA microscope - - BMD/DMD Pat4 PubMed: Liu 2023 no family history F - China - - - - - 1 Johan den Dunnen
+/. (57i_79_) c.(8548-2780_*1840035)delins[NC_000005.9:g.pter_(18400001_28900000)] r.? p.? Unknown - pathogenic (recessive) g.pter_(29300001_31500000)delins[NC_000005.9:g.pter_(18400001_28900000)] g.pter_(29300001_31500000)delins[NC_000005.10:g.pter_(18400001_28900000)] - 46XX,t(X;5)(p21;p14) DMD_000000 - PubMed: Liu 2023 - - Germline/De novo (untested) - - - - - DNA microscope - - BMD/DMD Pat13 PubMed: Liu 2023 no family history F - China - - - - - 1 Johan den Dunnen
?/. 62i c.? r.(=) p.(=) Unknown - VUS g.? - g.-31285223_31285208dupTTCTTTCTTTCTTTCT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-1081T>C - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-955A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-807A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-583dupA - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-451A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-419A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-342G>A - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-181A>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
-/. 1 c.? r.? p.? Unknown - benign g.? - NM_004006.2:g.-114dupT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.-29dupT - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
-/. 1 c.? r.? p.? Unknown - benign g.? - NM_004006.2:g.-8T>A - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.32G>T - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.99A>G - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
?/. 1 c.? r.? p.? Unknown - VUS g.? - NM_004006.2:g.323A>C - DMD_000000 - from website {DBsub-Emory} - - Germline - - - - - DNA SEQ - - DMD - - - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2i_8i c.? r.? p.? Maternal (inferred) - pathogenic (recessive) g.? - del ex3, 6, 8 - DMD_000000 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - - - DNA MLPA - - DMD 28116794-Pat? PubMed: De Almeida 2017 - M - Brazil - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - del 8-10,21-26 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat20 PubMed: Wang 2014 - M - China - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - dup 3-10,21-29 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat24 PubMed: Wang 2014 - M - China - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - dup 2-4; del 64 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat25 PubMed: Wang 2014 - M - China - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - dup 45; del 8-10,21-30,41 - DMD_000000 - PubMed: Wang 2014 - - Germline/De novo (untested) - - - - - DNA MLPA - - BMD/DMD Pat26 PubMed: Wang 2014 - M - China - - - - - 1 Johan den Dunnen
+/. 20 c.? r.(?) p.? Unknown - pathogenic (recessive) g.? - 2518G>T (Gln840*) - DMD_000000 - PubMed: Ma 2018, Journal: Ma 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD Pat180 PubMed: Ma 2018, Journal: Ma 2018 carrier status mother not known M - China - - - - - 1 Johan den Dunnen
+/. 67 c.? r.(?) p.? Maternal (confirmed) - pathogenic (recessive) g.? - 9669C>T (Arg3223*Ter) - DMD_000000 - PubMed: Yang 2019 - - Germline - 1/100 cases BMD/DMD - - - DNA MLPA, SEQ - - BMD/DMD P88 PubMed: Yang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. 21 c.? r.(?) p.? Unknown - pathogenic (recessive) g.? - 2664C>T (Gln888Ter) - DMD_000000 - PubMed: Yang 2019 - - De novo - 1/100 cases BMD/DMD - - - DNA MLPA, SEQ - - BMD/DMD P89 PubMed: Yang 2019 - M - China - - - - - 1 Johan den Dunnen
+/. - c.? - - Maternal (confirmed) - pathogenic (recessive) g.? g.? - - DMD_000000 non contiguous duplication of exons 45-50, 53, 68, 69, 72,73,75 - - - Germline - - - - - DNA MLPA Nil - DMD MDCRC/3473/DBI-2651 - - M no India Indian 17y - yes - 1 Lakshmi Bremadesam
+/. - c.? r.spl p.? Unknown - pathogenic (recessive) g.? - c.240+1G>A - DMD_000000 - PubMed: Tong 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - BMD/DMD - PubMed: Tong 2020 - M - China - - - - - 1 Yi Dai
?/. 12 c.? r.(?) p.(Gln447Pro) Maternal (confirmed) - VUS g.32632538T>G g.32614421T>G NM_000109.3:c.1340A>C - DMD_000000 MLPA deletion signal PubMed: Cohen 2022 - - Germline - 1/12362 healthy females - - - DNA MLPA, SEQ - - Healthy/Control - PubMed: Cohen 2022 analysis 12,362 females for DMD; mother heterozygous carrier, no carrier male relatives F - Israel Jew-Ashkenazi - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - - - DMD_000000 - PubMed: Liu 2023 - - Germline/De novo (untested) - - - - 11y-Xi ratio blood 4:96 (pat/mat) DNA MLPA, SEQ - - BMD/DMD Pat15 PubMed: Liu 2023 no family history F - China - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Unknown - pathogenic (recessive) g.? - 3079C>T - DMD_000000 - PubMed: Liu 2023 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - BMD/DMD Pat38 PubMed: Liu 2023 no family history F - China - - - - - 1 Johan den Dunnen
+/. - c.? r.? p.? Maternal (inferred) - pathogenic (dominant) g.[NC_000001.10:g.pter_(88400001_92000000)del]inspter_(24900001_29300000] g.[NC_000001.11:g.pter_(87900001_91500000)del]ins[NC_000023.11:g.pter_(24900001_29300000] - t(X;1)(p21.3;p22.2) DMD_000000 variant only detected using karyotype analysis PubMed: Alghamdi 2021 - - De novo - - - - - DNA arrayCGH, microscope, MLPA, SEQ-NG - - DMD Pat3 PubMed: Alghamdi 2021 family, 1 affected, healthy non-carrier parents F - Syria - - - - - 1 Johan den Dunnen
+/. 42i c.? r.? p.? Maternal (confirmed) - pathogenic g.? g.? g.32314008_32322159ins780284_879264;g.32314008_32322159dup - DMD_000000 - - - - Germline - - - - - DNA SEQ-PB - - DMD - - - M - China - - - - - 1 Xihua Li
+/. 43 c.? r.? p.(fs) Unknown - pathogenic (recessive) g.? g.? protein truncation ex43 - DMD_000000 - PubMed: Barbarii 2025 - - Germline - - - - - DNA MLPA, SEQ - - DMD Indv263 PubMed: Barbarii 2025 - M - Romania - - - - - 1 Teodora Barbarii
+/. 58 c.? r.? p.(fs) Unknown - pathogenic (recessive) g.? g.? protein truncation ex58 - DMD_000000 - PubMed: Barbarii 2025 - - Germline - - - - - DNA MLPA, SEQ - - DMD Indv264 PubMed: Barbarii 2025 - M - Romania - - - - - 1 Teodora Barbarii
?/. 2 c.77A>G r.(?) p.(Asn26Ser) Maternal (confirmed) - VUS g.33038272T>C g.33020155T>C Asn26* - DMD_000000 description corrected after contact with authors PubMed: Ma 2018, Journal: Ma 2018 - - Germline - - - - - DNA SEQ - - DMD Pat123 PubMed: Ma 2018, Journal: Ma 2018 carrier mother M - China - - - - - 1 Johan den Dunnen
-?/. 2i c.(93+1_94-1)del r.(=) p.(=) Maternal (inferred) - likely benign g.32867940_33038257del g.32849823_33020140del - - DMD_000000 deletion detected using BAC ESHG2010, Kitsiou-Tzeli P12.058 - - Germline - - - - - DNA arrayCGH - - DMD - ESHG2010, Kitsiou-Tzeli P12.058 - M - Greece - - - - - 1 Johan den Dunnen
-/. 2i_7i c.649_650= r.649_650= p.Asp217= Maternal (inferred) - benign g.(32717410_32827610=) - - - DMD_000000 deletion of duplicated segment (ex3-7), 25% normal dystrophin PubMed: Punetha 2016 - - Somatic - - - - - DNA, RNA arrayCGH, RT-PCR, SEQ - - BMD/DMD FamPatIII1 PubMed: Punetha 2016 patient III1 M no United States - - - - - 1 Jaya Punetha
?/. 8i_9i c.(831+1_961-1)? r.[=,832_960del] p.[=,Ile278_Gln320del] Unknown - VUS g.(32663270_32717228)? - - - DMD_000000 no genomic variant detected PubMed: Segarra-Casas 2022, Journal: Segarra-Casas 2022 - - Germline/De novo (untested) ? - - - - DNA, RNA MLPA, RT-PCRq, SEQ Blood (gDNA), muscle (RNA) - BMD Pat3 PubMed: Segarra-Casas 2022, Journal: Segarra-Casas 2022 - M ? Spain - - - - - 1 Alba Segarra Casas
+/. 49i_55i;49i_79_;60i_79_ c.[7099-13197_8217+37334dup;7099-13197_*272922inv;9085-34579_*272922dup] r.? p.? Maternal (confirmed) - pathogenic (recessive) g.[30867114_31401330dup;30867114_31868133inv;31608456_31868133dup] g.[30848997_31383213dup;30848997_31850016inv;31590339_31850016dup] - - DMD_000000 1Mb inversion (DMD ex50-79) flanked by 260kb (DMD 49i_55i) and 534kb (DMD 60i_TAB3 3'UTR) duplications PubMed: Xie 2026 - - Germline - - - - - DNA SEQ-PB - - NMD Pat2 PubMed: Xie 2026 4-generation family, 1 affected, heterozygous carrier mother F - China - - - - - 1 Johan den Dunnen
+/. 55i_62i c.[IL1RAPL1ins; (8217+1_8218-1)_(9224+1_9225-1)dup] r.[9224_9225ins612;8218_9224dup] p.? Parent #1 - pathogenic (recessive) g.? - - - DMD_000000 duplication exons 56-62, preceded by IL1RAPL1 insertion; on RNA ins612 = IL1RAPL1:exons3-5 Zhang ASHG2008 P644 - - Germline - - - - - DNA, RNA MLPA, RT-PCR, SEQ - - DMD - Zhang ASHG2008 P644 - M - - - >8y - - - 1 Johan den Dunnen
+/. 62i_67i c.[9225-6713_9808-7691inv;9808-7690_*2691{1}] r.0 p.0 Unknown - pathogenic g.[NC_000001.10:g.116084036_qter]delins[pter_31208711inv;31208712_31285846] g.[NC_000001.10:g.115541415_qter]delins[pter_31190594inv;31190595_31267729] - t(X;1) (p21.2;p13.3) DMD_000000 - PubMed: Wang 2024 - - DUPLICATE record - - - - - DNA MLPA, SEQ-NG - WES ? FamPatIII5 PubMed: Wang 2024 mother F - China - - - - - 1 Johan den Dunnen
+/. 62i_67i c.[9225-6713_9808-7691inv;9808-7690_*2691{1}] r.0 p.0 Maternal (confirmed) - pathogenic g.[NC_000001.10:g.116084036_qter]delins[pter_31208711inv;31208712_31285846] g.[NC_000001.10:g.115541415_qter]delins[pter_31190594inv;31190595_31267729] - t(X;1) (p21.2;p13.3) DMD_000000 - PubMed: Wang 2024 - - DUPLICATE record - - - - - DNA, RNA RT-PCR, SEQ, SEQ-ON - - DMD FamPatIV3 PubMed: Wang 2024 4-generation fmily, affected mother/son M no China - - - - - 2 Johan den Dunnen
?/. 70i_71i c.(10223+1_10263-1)? r.[=,10224_10262del] p.[=,Val3410_Pro3422del] Unknown - VUS g.(31191722_31196785)? - - - DMD_000000 - PubMed: Segarra-Casas 2022, Journal: Segarra-Casas 2022 - - Germline/De novo (untested) ? - - - - DNA, RNA MLPA, PCRdd, RT-PCR, SEQ, SEQ-NG-I Blood (gDNA), muscle (RNA) - BMD Pat5 PubMed: Segarra-Casas 2022, Journal: Segarra-Casas 2022 - M ? Spain - - - - - 1 Alba Segarra Casas
?/. 70i_71i c.(10223+1_10263-1)? r.[=,10224_10262del] p.[=,Val3410_Pro3422del] Unknown - VUS g.(31191722_31196785)? - - - DMD_000000 ddPCR skipping ex71 0.16, normal 0.84 PubMed: Segarra-Casas 2022, Journal: Segarra-Casas 2022 - - Germline/De novo (untested) - - - - - DNA, RNA MLPA, PCRdd, RT-PCR, SEQ, SEQ-NG-I Blood (gDNA), muscle (RNA) - BMD Pat7 PubMed: Segarra-Casas 2022, Journal: Segarra-Casas 2022 - M no Spain - - - - - 1 Alba Segarra Casas
?/. 77i_78i c.(11014+1_11047-1)? r.[=,11015_11046del] p.[=,Gly3672Glyfs*12] Unknown - VUS g.(31140048_31152218)? - - - DMD_000000 - PubMed: Segarra-Casas 2022, Journal: Segarra-Casas 2022 - - Germline/De novo (untested) ? - - - - DNA, RNA MLPA, PCRdd, RT-PCR, SEQ, SEQ-NG-I Blood (gDNA), muscle (RNA) - BMD Pat5 PubMed: Segarra-Casas 2022, Journal: Segarra-Casas 2022 - M ? Spain - - - - - 1 Alba Segarra Casas
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