C0013264[trait identifier] AND "Laboratory of Medical Genetics, Nation - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 224665	NM_004006.3(DMD):c.10509_10510del (p.Glu3505fs)	DMD (E2161fs +10 more)	Microsatellite (frameshift variant +1 more)	Duchenne muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1455387	NM_004006.3(DMD):c.10453_10454del (p.Leu3485fs)	DMD (L1012fs +10 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 3B +2 more	GPathogenic
Select item 497301	NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)	DMD (L3481fs +10 more)	Duplication (intron variant +1 more)	not provided +2 more	GPathogenic
Select item 94430	NM_004006.3(DMD):c.10223+1G>A	DMD	Single nucleotide variant (synonymous variant +1 more)	Duchenne muscular dystrophy +2 more	GPathogenic
Select item 11273	NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)	DMD (R3381* +8 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +3 more	GPathogenic
Select item 11213	NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)	DMD (R3370* +8 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 596803	NM_004006.3(DMD):c.10087-2A>G	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1806440	NM_004006.3(DMD):c.9973A>G (p.Arg3325Gly)	DMD (R1981G +8 more)	Single nucleotide variant (missense variant)	Becker muscular dystrophy +2 more	GUncertain significance
Select item 1322631	NM_004006.3(DMD):c.9913G>T (p.Glu3305Ter)	DMD (E1961* +8 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 1377945	NM_004006.3(DMD):c.9807+1G>C	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1806434	NM_004006.3(DMD):c.9619_9626del (p.Cys3207fs)	DMD (C139fs +8 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1806433	NM_004006.3(DMD):c.9600_9601del (p.Lys3200fs)	DMD (K132fs +8 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 11282	NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)	DMD (R3190* +8 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 3B +3 more	GPathogenic
Select item 2138505	NM_004006.3(DMD):c.9563+1215A>G	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy	GPathogenic/Likely pathogenic
Select item 288725	NM_004006.3(DMD):c.9563+1G>A	DMD	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 1806432	NM_004006.3(DMD):c.9442_9457del (p.Leu3148fs)	DMD (L1804fs +8 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806437	NM_004006.3(DMD):c.9361+1G>T	DMD	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1806436	NM_004006.3(DMD):c.9224+2T>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 217217	NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs)	DMD (N3064fs +7 more)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 526087	NM_004006.3(DMD):c.9183G>A (p.Trp3061Ter)	DMD (W3061* +7 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 1806431	NM_004006.3(DMD):c.9163+2T>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 569802	NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)	DMD (R3034* +7 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 1806430	NM_004006.3(DMD):c.8944del (p.Arg2982fs)	DMD (R1638fs +7 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 11211	NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)	DMD (R2982* +7 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1806429	NM_004006.3(DMD):c.8851_8861del (p.Arg2951fs)	DMD (R1607fs +7 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 94810	NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)	DMD (R2870* +7 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 265325	NM_004006.3(DMD):c.8218-2A>G	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 1806428	NM_004006.3(DMD):c.7819A>T (p.Lys2607Ter)	DMD (K1263* +6 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 94772	NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter)	DMD (R2553* +6 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1806427	NM_004006.3(DMD):c.7327_7328del (p.Thr2443fs)	DMD (T1099fs +5 more)	Deletion (5 prime UTR variant +1 more)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 492825	NM_004006.3(DMD):c.7310-1G>A	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 502009	NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)	DMD (Q2387* +5 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +3 more	GPathogenic
Select item 1806426	NM_004006.3(DMD):c.7000G>T (p.Glu2334Ter)	DMD (E2211* +5 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806425	NM_004006.3(DMD):c.6382A>T (p.Arg2128Ter)	DMD (R2128* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 11260	NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)	DMD (R2098* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1806423	NM_004006.3(DMD):c.6171del (p.Ser2057fs)	DMD (S1934fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806424	NM_004006.3(DMD):c.6147del (p.Gly2050fs)	DMD (G1927fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806422	NM_004006.3(DMD):c.6057del (p.Asn2019fs)	DMD (N1896fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 94681	NM_004006.3(DMD):c.5773G>T (p.Glu1925Ter)	DMD (E1925* +5 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dystrophin +1 more	GPathogenic
Select item 597052	NM_004006.3(DMD):c.5697dup (p.Leu1900fs)	DMD (L1896fs +5 more)	Duplication	not provided +1 more	GPathogenic
Select item 217205	NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter)	DMD (Q1881* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 1806420	NM_004006.3(DMD):c.5602dup (p.Arg1868fs)	DMD (R1745fs +5 more)	Duplication (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 594248	NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter)	DMD (Q1855* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 94669	NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter)	DMD (R1844* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +3 more	GPathogenic
Select item 803861	NM_004006.3(DMD):c.5358del (p.Phe1786fs)	DMD (F445fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1806419	NM_004006.3(DMD):c.5326_5333del (p.Ala1776fs)	DMD (A1653fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 94653	NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs)	DMD (K364fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 455904	NM_004006.3(DMD):c.5068_5070del (p.His1690del)	DMD (H1690del +5 more)	Deletion (inframe_deletion)	Becker muscular dystrophy +2 more	GUncertain significance
Select item 1806418	NM_004006.3(DMD):c.4961del (p.Ser1654fs)	DMD (S1531fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 217199	NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)	DMD (R1577* +5 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 418861	NM_004006.3(DMD):c.4538_4541del (p.Ser1513fs)	DMD (S1505fs +5 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 1324247	NM_004006.3(DMD):c.4519-5C>G	DMD	Single nucleotide variant (intron variant)	Becker muscular dystrophy +1 more	GLikely pathogenic
Select item 1806417	NM_004006.3(DMD):c.4363dup (p.Ser1455fs)	DMD (S111fs +5 more)	Duplication (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 500046	NM_004006.3(DMD):c.4290_4291del (p.His1430fs)	DMD (H1422fs +5 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1806416	NM_004006.3(DMD):c.4198A>T (p.Lys1400Ter)	DMD (K1277* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806415	NM_004006.3(DMD):c.4069dup (p.Glu1357fs)	DMD (E1234fs +3 more)	Duplication (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1322520	NM_004006.3(DMD):c.3774C>A (p.Cys1258Ter)	DMD (C1135* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 1322366	NM_004006.3(DMD):c.3622C>T (p.Gln1208Ter)	DMD (Q1085* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 409882	NM_004006.3(DMD):c.3603+3A>T	DMD	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1806413	NM_004006.3(DMD):c.3400del (p.Asn1135fs)	DMD (N1012fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806414	NM_004006.3(DMD):c.3337_3338insTGGG (p.Gln1113fs)	DMD (Q1105fs +3 more)	Insertion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806435	NM_004006.3(DMD):c.3277-1G>A	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 2572633	NM_004006.3(DMD):c.3229_3233del (p.Ala1077fs)	DMD (A1069fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806412	NM_004006.3(DMD):c.3149del (p.Leu1050fs)	DMD (L1042fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 803899	NM_004006.3(DMD):c.3013G>T (p.Glu1005Ter)	DMD (E1001* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 526061	NM_004006.3(DMD):c.2949+1G>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 938083	NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)	DMD (E968* +3 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy +1 more	GPathogenic
Select item 643749	NM_004006.3(DMD):c.2869C>T (p.Gln957Ter)	DMD (Q953* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 1806410	NM_004006.3(DMD):c.2787_2788del (p.Lys930fs)	DMD (K807fs +3 more)	Microsatellite (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 94532	NM_004006.3(DMD):c.2758C>T (p.Gln920Ter)	DMD (Q920* +3 more)	Single nucleotide variant (nonsense)	DMD-related disorder +1 more	GPathogenic
Select item 166824	NM_004006.3(DMD):c.2755A>T (p.Lys919Ter)	DMD (K919* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 1806411	NM_004006.3(DMD):c.2656_2668del (p.Pro885_Gln886insTer)	DMD	Deletion (nonsense)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 409911	NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)	DMD (R889* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +4 more	GPathogenic
Select item 1806408	NM_004006.3(DMD):c.2566C>T (p.Gln856Ter)	DMD (Q733* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 3256567	NM_004006.3(DMD):c.2381-1G>A	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1806407	NM_004006.3(DMD):c.2278_2292+101delinsTGATAAA	DMD	Indel (splice donor variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806406	NM_004006.3(DMD):c.1726del (p.Ser576fs)	DMD (S453fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1322507	NM_004006.3(DMD):c.1704+1G>T	DMD	Single nucleotide variant (splice donor variant)	Becker muscular dystrophy +1 more	GPathogenic
Select item 94475	NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)	DMD (R539* +3 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dystrophin +4 more	GPathogenic
Select item 1072276	NM_004006.3(DMD):c.1603-2A>T	DMD	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 3B +1 more	GPathogenic
Select item 94469	NM_004006.3(DMD):c.1482+1G>T	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 1806405	NM_004006.3(DMD):c.1399dup (p.Thr467fs)	DMD (T344fs +3 more)	Duplication (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 193869	NM_004006.3(DMD):c.1286C>G (p.Ser429Ter)	DMD (S429* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1806404	NM_004006.3(DMD):c.979del (p.Asp327fs)	DMD (D204fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1322345	NM_004006.3(DMD):c.903C>A (p.Tyr301Ter)	DMD (Y178* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 166864	NM_004006.3(DMD):c.883C>T (p.Arg295Ter)	DMD (R295* +3 more)	Single nucleotide variant (nonsense)	Becker muscular dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 1806403	NM_004006.3(DMD):c.848dup (p.Gln284fs)	DMD (Q161fs +3 more)	Duplication (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806401	NM_004006.3(DMD):c.847del (p.Ala283fs)	DMD (A160fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1322328	NM_004006.3(DMD):c.826C>T (p.Gln276Ter)	DMD (Q153* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 975106	NM_004006.3(DMD):c.811C>T (p.Gln271Ter)	DMD (Q148* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy	GPathogenic
Select item 803942	NM_004006.3(DMD):c.709del (p.Gln237fs)	DMD (Q114fs +3 more)	Deletion (frameshift variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1806421	NM_004006.3(DMD):c.479_490delinsTTGATGGC (p.Thr160fs)	DMD (T152fs +3 more)	Indel (frameshift variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 284924	NM_004006.3(DMD):c.457C>T (p.Gln153Ter)	DMD (Q153* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +3 more	GPathogenic
Select item 94622	NM_004006.3(DMD):c.434G>C (p.Arg145Pro)	DMD (R22P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 11225	NM_004006.3(DMD):c.433C>T (p.Arg145Ter)	DMD (R145* +3 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 3B +3 more	GPathogenic
Select item 1299654	NM_004006.3(DMD):c.265-1G>A	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1806409	NM_004006.3(DMD):c.247dup (p.Val83fs)	DMD (V75fs +2 more)	Duplication (frameshift variant +1 more)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 1806400	NM_004006.3(DMD):c.181A>T (p.Lys61Ter)	DMD (K53* +2 more)	Single nucleotide variant (nonsense +1 more)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 11237	NM_004006.3(DMD):c.94-1G>T	DMD	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1299643	NM_004006.3(DMD):c.71G>A (p.Trp24Ter)	DMD (W16* +2 more)	Single nucleotide variant (nonsense +1 more)	Duchenne muscular dystrophy +1 more	GPathogenic/Likely pathogenic

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