"CSER _CC_NCGL, University of Washington"[submitter] AND "DMD"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 94856	NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)	DMD (F3228L +8 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 161219	NM_004006.3(DMD):c.7571G>A (p.Arg2524His)	DMD (R2516H +6 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +6 more	GBenign/Likely benign
Select item 375863	NM_004006.3(DMD):c.4449G>A (p.Met1483Ile)	DMD (M1475I +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 94587	NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser)	DMD (T1136S +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 226048	NM_004006.3(DMD):c.2972A>G (p.Glu991Gly)	DMD (E868G +3 more)	Single nucleotide variant (missense variant)	DMD-related disorder +2 more	GUncertain significance
Select item 94510	NM_004006.3(DMD):c.2391T>G (p.Asn797Lys)	DMD (N797K +3 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GBenign/Likely benign
Select item 226049	NM_004006.3(DMD):c.2245A>G (p.Ile749Val)	DMD (I626V +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 162497	NM_004006.3(DMD):c.1812+1G>A	DMD	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 161220	NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	DMD (L567P +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 161221	NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)	DMD (E432K +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity