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Items: 1 to 100 of 447

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMD
Microsatellite
(3 prime UTR variant)
not provided
GUncertain significance
DMD
Microsatellite
(3 prime UTR variant)
Dilated cardiomyopathy 3B
+1 more
GConflicting classifications of pathogenicity
DMD
(E1112V +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DMD
(G1107E +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DMD
(V3659M +11 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DMD
(R3630Q +11 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DMD
(M3627V +11 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMD
(D1052H +11 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
DMD
(T3616A +11 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DMD
(Q1129* +11 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(R1001H +11 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 3B
+4 more
GConflicting classifications of pathogenicity
DMD
(E493D +11 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GUncertain significance
DMD
(A3433T +11 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GUncertain significance
DMD
(R3554W +11 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
DMD
(L3539V +11 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DMD
(H3531R +11 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
DMD
(Q1057* +11 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
DMD
(A1049fs +11 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DMD
(E2161fs +10 more)
Microsatellite
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DMD
(E1042fs +10 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic/Likely pathogenic
DMD
(L3481fs +10 more)
Duplication
(intron variant +1 more)
Becker muscular dystrophy
+2 more
GPathogenic
DMD
Deletion
(nonsense +1 more)
not provided
+1 more
GPathogenic
DMD
(Q3481R +10 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
DMD
(Q2133* +10 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
DMD
Deletion
(nonsense +2 more)
not provided
GLikely pathogenic
DMD
Duplication
(splice acceptor variant +1 more)
not provided
GPathogenic
DMD
Duplication
(splice acceptor variant +1 more)
not provided
GLikely pathogenic
DMD
(A3421V +8 more)
Single nucleotide variant
(missense variant +1 more)
Duchenne muscular dystrophy
+2 more
GUncertain significance
DMD
(A2077T +8 more)
Single nucleotide variant
(missense variant +1 more)
Duchenne muscular dystrophy
+1 more
GUncertain significance
DMD
(D2075fs +8 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
DMD
(P3417A +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
(W3416* +8 more)
Single nucleotide variant
(nonsense +1 more)
Pectus excavatum
+11 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
DMD
Deletion
(frameshift variant +2 more)
not provided
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GPathogenic
DMD
(T3408I +10 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DMD
(D3404G +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
DMD
(G2049fs +8 more)
Deletion
(frameshift variant)
not provided
GPathogenic
DMD
(R3391* +8 more)
Single nucleotide variant
(nonsense)
Abnormality of the musculature
+4 more
GPathogenic
DMD
(N2034fs +8 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DMD
(R3370* +8 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(D2027G +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
DMD
(E3367del +8 more)
Microsatellite
(inframe_deletion)
Becker muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
DMD
(G298del +7 more)
Deletion
(inframe_deletion)
Duchenne muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
DMD
Single nucleotide variant
(splice donor variant)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Duchenne muscular dystrophy
+2 more
GPathogenic
DMD
(R3222P +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GUncertain significance
DMD
(C1993Y +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
DMD
(Y1982* +8 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
DMD
(C1972Y +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
(A1967D +8 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMD
(P1955fs +8 more)
Duplication
(frameshift variant)
Duchenne muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
DMD
(D162fs +8 more)
Deletion
(frameshift variant)
not provided
GPathogenic
DMD
Deletion
(splice acceptor variant)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(Y3217H +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GUncertain significance
DMD
(E3089fs +8 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
DMD
(F131L +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
(T123I +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
(R3190* +8 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 3B
+2 more
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
DMD
(N3061fs +8 more)
Duplication
(frameshift variant)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(R1819C +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(splice donor variant)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(R3113* +8 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(D1753fs +8 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
DMD
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
DMD
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely pathogenic
DMD
Deletion
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DMD
(R3034* +7 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+3 more
GPathogenic
DMD
(V3031I +7 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
DMD
(K3025R +7 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
DMD
(T1672I +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
(G1639E +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
(R2982* +7 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
+2 more
GUncertain significance
DMD
(E1632D +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
(Q243fs +7 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
DMD
(Q2972* +7 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(L1630fs +7 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
DMD
(D2965E +7 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DMD
(D2957N +6 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
(R1583S +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMD
(W1584C +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMD
(A2919T +7 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
DMD
(R2905* +7 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
DMD
(R2902Q +7 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
DMD
(P2893S +7 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Becker muscular dystrophy
+1 more
GPathogenic
DMD
(Q2878E +7 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DMD
(L144V +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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