ClinVar for PMC (Select 59832) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1378468	NM_004006.3(DMD):c.9807+5G>C	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy	GPathogenic
Select item 578413	NM_004006.3(DMD):c.9807+5G>A	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 197522	NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp)	DMD (R2191W +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 94670	NM_004006.3(DMD):c.5554C>T (p.Gln1852Ter)	DMD (Q1852* +5 more)	Single nucleotide variant (nonsense)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 94576	NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)	DMD (R1051* +3 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic

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