"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "DMD"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282841	NM_004006.3(DMD):c.10477C>T (p.Gln3493Ter)	DMD (Q3493* +10 more)	Single nucleotide variant (nonsense +1 more)	Duchenne muscular dystrophy +1 more	GPathogenic
Select item 452134	NM_004006.3(DMD):c.10249C>G (p.Pro3417Ala)	DMD (P3417A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 228596	NM_004006.3(DMD):c.9362-3C>T	DMD	Single nucleotide variant (intron variant)	Duchenne muscular dystrophy +3 more	GUncertain significance
Select item 499319	NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys)	DMD (G2964C +7 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1333499	NM_004006.3(DMD):c.8086del (p.Leu2696fs)	DMD (L1352fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1322638	NM_004006.3(DMD):c.8074C>T (p.Gln2692Ter)	DMD (Q1348* +6 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 94755	NM_004006.3(DMD):c.7016A>G (p.His2339Arg)	DMD (H2216R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 582667	NM_004006.3(DMD):c.6464G>A (p.Arg2155Gln)	DMD (R2155Q +5 more)	Single nucleotide variant (missense variant +1 more)	Duchenne muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 374948	NM_004006.3(DMD):c.5489G>T (p.Arg1830Ile)	DMD (R1822I +5 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1163776	NM_004006.3(DMD):c.5419C>G (p.Leu1807Val)	DMD (L1684V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290184	NM_004006.3(DMD):c.4049G>A (p.Arg1350His)	DMD (R1350H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 956710	NM_004006.3(DMD):c.3424T>C (p.Cys1142Arg)	DMD (C1019R +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 1693786	NM_004006.3(DMD):c.3361C>T (p.Pro1121Ser)	DMD (P1113S +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 1693787	NM_004006.3(DMD):c.2038A>G (p.Thr680Ala)	DMD (T557A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1322224	NM_004006.3(DMD):c.1843C>T (p.Gln615Ter)	DMD (Q492* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3338844	NM_004006.3(DMD):c.1727C>A (p.Ser576Ter)	DMD (S453* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 291121	NM_004006.3(DMD):c.1523A>G (p.Asn508Ser)	DMD (N508S +3 more)	Single nucleotide variant (missense variant)	Duchenne muscular dystrophy +1 more	GUncertain significance
Select item 526084	NM_004006.3(DMD):c.1075G>T (p.Glu359Ter)	DMD (E359* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3380738	NM_004006.3(DMD):c.881C>A (p.Pro294His)	DMD (P171H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 499868	NM_004006.3(DMD):c.863G>C (p.Arg288Thr)	DMD (R288T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 547885	NM_004006.3(DMD):c.31+4A>G	DMD	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 3B +1 more	GUncertain significance
Select item 1120174	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1120173	Single allele	DMD	Deletion	not provided	GPathogenic
Select item 1120172	Single allele	DMD	Duplication	not provided	GPathogenic

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Items: 24