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Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMD
(E2161fs +10 more)
Microsatellite
(frameshift variant +1 more)
Duchenne muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
DMD
(L1012fs +10 more)
Deletion
(frameshift variant +1 more)
Duchenne muscular dystrophy
GPathogenic
DMD
(L3481fs +10 more)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
DMD
Single nucleotide variant
(splice donor variant +1 more)
not provided
+2 more
GPathogenic
DMD
(R3381* +8 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
DMD
(R3370* +8 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
DMD
(E1961* +8 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(C139fs +8 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(K132fs +8 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(R3190* +8 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 3B
+2 more
GPathogenic
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Qualitative or quantitative defects of dystrophin
+2 more
GPathogenic
DMD
(L1804fs +8 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DMD
Single nucleotide variant
(splice donor variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(N3064fs +7 more)
Microsatellite
(frameshift variant)
Elevated circulating creatine kinase concentration
+2 more
GPathogenic
DMD
(W3061* +7 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(R3034* +7 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+3 more
GPathogenic
DMD
(R1638fs +7 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(R2982* +7 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(R1607fs +7 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(R2870* +7 more)
Single nucleotide variant
(nonsense)
DMD-related disorder
+2 more
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
DMD
(K1263* +6 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(R2553* +6 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DMD
(T1099fs +5 more)
Deletion
(frameshift variant +1 more)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(Q2387* +5 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
DMD
(E2211* +5 more)
Single nucleotide variant
(nonsense +1 more)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(R2128* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
(R2098* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(S1934fs +5 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(G1927fs +5 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(N1896fs +5 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(E1925* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
(L1896fs +5 more)
Duplication
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(Q1881* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
(R1745fs +5 more)
Duplication
(frameshift variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(Q1855* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(R1844* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(F445fs +5 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(A1653fs +5 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(K364fs +5 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
DMD
(H1690del +5 more)
Deletion
(inframe_deletion)
not specified
+2 more
GUncertain significance
DMD
(S1531fs +5 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(R1577* +5 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
DMD
(S1505fs +5 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
Single nucleotide variant
(intron variant)
Becker muscular dystrophy
+1 more
GLikely pathogenic
DMD
(S111fs +5 more)
Duplication
(frameshift variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(H1422fs +5 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
DMD
(K1277* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(E1234fs +3 more)
Duplication
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(C1135* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
(Q1085* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(N1012fs +3 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(Q1105fs +3 more)
Insertion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(A1069fs +3 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(L1042fs +3 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(E1001* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
DMD
(E968* +3 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
+1 more
GPathogenic
DMD
(Q953* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
(K807fs +3 more)
Microsatellite
(frameshift variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(Q920* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
(K919* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DMD
Deletion
(nonsense)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(R889* +3 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
DMD
(Q733* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
Indel
(splice donor variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(S453fs +3 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Becker muscular dystrophy
+1 more
GPathogenic
DMD
(R539* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 3B
+1 more
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
DMD
(T344fs +3 more)
Duplication
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(S429* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DMD
(D204fs +3 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(Y178* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
(R295* +3 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
DMD
(Q161fs +3 more)
Duplication
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(A160fs +3 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(Q153* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
(Q148* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
GPathogenic
DMD
(Q114fs +3 more)
Deletion
(frameshift variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(T152fs +3 more)
Indel
(frameshift variant)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(Q153* +3 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DMD
(R22P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
DMD
(R145* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
GPathogenic
DMD
(V75fs +2 more)
Duplication
(frameshift variant +1 more)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(K53* +2 more)
Single nucleotide variant
(nonsense +1 more)
Duchenne muscular dystrophy
GLikely pathogenic
DMD
(W16* +2 more)
Single nucleotide variant
(nonsense +1 more)
Becker muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
DMD
Single nucleotide variant
(intron variant +1 more)
Cardiovascular phenotype
+3 more
GPathogenic
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