ClinVar for PubMed (Select 25972034) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2834331	NM_004006.3(DMD):c.9807+2T>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 2684179	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 2684138	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 2501153	NC_000023.10:g.(31676262_31697491)_(31986632_32235032)del	DMD	Deletion	Qualitative or quantitative defects of dystrophin	GPathogenic
Select item 2424972	NC_000023.10:g.(?_31947693)_(31986651_?)dup	DMD	Duplication	Duchenne muscular dystrophy	GPathogenic
Select item 2424915	NC_000023.10:g.(?_31525378)_(31986651_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 2424894	NC_000023.10:g.(?_32503016)_(32563471_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 2424820	NC_000023.10:g.(?_32305626)_(33229429_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1807268	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1807267	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1807260	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1807256	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1807252	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1807251	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1807250	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1807248	Single allele	DMD	Duplication	not provided	GPathogenic
Select item 1807246	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1807243	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1722391	NC_000023.10:g.(31986632_32235032)_(32519960_32536124)dup	DMD	Duplication	Qualitative or quantitative defects of dystrophin	GPathogenic
Select item 1704542	NC_000023.10:g.(31854937_31893304)_(32235181_32305645)dup	DMD	Duplication	Qualitative or quantitative defects of dystrophin	GLikely pathogenic
Select item 1371555	NM_004006.3(DMD):c.9807+1G>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1322493	NM_004006.3(DMD):c.1267C>T (p.Gln423Ter)	DMD (Q300* +3 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dystrophin +1 more	GPathogenic
Select item 1322228	NM_004006.3(DMD):c.2169-2A>T	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1322224	NM_004006.3(DMD):c.1843C>T (p.Gln615Ter)	DMD (Q492* +3 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 1256413	Single allele	DMD	Duplication	not provided	GLikely pathogenic
Select item 1256407	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1256406	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1256404	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1256403	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1192268	NC_000023.10:g.(32509636_32519871)_(32717411_32827609)del	DMD	Deletion	Qualitative or quantitative defects of dystrophin	GPathogenic
Select item 1073964	NC_000023.10:g.(?_31496203)_(31950364_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1072167	NM_004006.3(DMD):c.94-2A>C	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 1069345	NC_000023.10:g.(?_32305637)_(33357392_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 1066254	NC_000023.10:g.(?_32305636)_(32717420_?)dup	DMD	Duplication	Duchenne muscular dystrophy	GLikely pathogenic
Select item 984682	NM_004006.3(DMD):c.4675-1G>A	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy	GPathogenic
Select item 981991	NC_000023.11:g.(31679587_31729630)_(31968515_32216915)dup	DMD	Duplication	Qualitative or quantitative defects of dystrophin	GPathogenic
Select item 833073	NC_000023.11:g.(?_31875178)_(32217073_?)dup	DMD	Duplication	Duchenne muscular dystrophy	GPathogenic
Select item 832179	NC_000023.11:g.(?_31965029)_(32614463_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 830419	NC_000023.11:g.(?_31169433)_(31507463_?)dup	DMD	Duplication	Duchenne muscular dystrophy	GPathogenic
Select item 803832	NM_004006.3(DMD):c.7872+1G>A	DMD	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 593815	NM_004006.3(DMD):c.264+1G>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 569802	NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)	DMD (R3034* +7 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +3 more	GPathogenic
Select item 545973	NM_004006.3(DMD):c.2257G>T (p.Glu753Ter)	DMD (E753* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 526163	NC_000023.10:g.(?_31893285)_(32235200_?)dup	DMD, LOC129391297	Duplication	Duchenne muscular dystrophy	GPathogenic
Select item 526160	NC_000023.11:g.(?_32411732)_(32573866_?)del	DMD	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 499729	NM_004006.3(DMD):c.4495C>T (p.Gln1499Ter)	DMD (Q1499* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 447265	NM_004006.3(DMD):c.7661-2A>G	DMD	Single nucleotide variant (splice acceptor variant)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 420583	NM_004006.3(DMD):c.8390+1G>A	DMD	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 286833	NM_004006.3(DMD):c.4174C>T (p.Gln1392Ter)	DMD (Q1392* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 217208	NM_004006.3(DMD):c.6611dup (p.Arg2205fs)	DMD (R2082fs +5 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 94668	NM_004006.3(DMD):c.5353C>T (p.Gln1785Ter)	DMD (Q1785* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 94653	NM_004006.3(DMD):c.5124_5127del (p.Lys1708fs)	DMD (K364fs +5 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 94584	NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)	DMD (Q1099* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 94511	NM_004006.3(DMD):c.2419C>T (p.Gln807Ter)	DMD (Q807* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 94430	NM_004006.3(DMD):c.10223+1G>A	DMD	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GPathogenic
Select item 11283	NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)	DMD (R1314* +3 more)	Single nucleotide variant (nonsense)	Qualitative or quantitative defects of dystrophin +2 more	GPathogenic

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Links from PubMed

Items: 56