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Links from MedGen

Items: 1 to 100 of 1439

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMD
(C1901S +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GUncertain significance
DMD
Single nucleotide variant
(splice donor variant +1 more)
Becker muscular dystrophy
GLikely pathogenic
DMD
(E666fs +3 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GLikely pathogenic
DMD
(C161fs +8 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GLikely pathogenic
DMD
Deletion
Becker muscular dystrophy
GLikely pathogenic
DMD
(K1275* +6 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
GPathogenic
DMD
(K1065* +3 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Becker muscular dystrophy
GLikely pathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Becker muscular dystrophy
GLikely pathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Becker muscular dystrophy
GPathogenic
DMD
(A199P +3 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
GUncertain significance
DMD
(E1590Q +7 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(splice donor variant)
Becker muscular dystrophy
GLikely pathogenic
DMD
Copy number loss
Becker muscular dystrophy
GLikely pathogenic
DMD
Single nucleotide variant
(intron variant)
Becker muscular dystrophy
GLikely pathogenic
DMD
(G2093V +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(R861fs +5 more)
Microsatellite
(frameshift variant +1 more)
Duchenne muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
DMD
Deletion
(nonsense +1 more)
Becker muscular dystrophy
GLikely pathogenic
DMD
(T2067fs +8 more)
Deletion
(frameshift variant +1 more)
Becker muscular dystrophy
GLikely pathogenic
DMD
(C1972I +8 more)
Indel
(missense variant)
Becker muscular dystrophy
GUncertain significance
DMD
(R1981G +8 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
GUncertain significance
DMD
Single nucleotide variant
(splice donor variant)
Becker muscular dystrophy
GLikely pathogenic
DMD
(M107R +3 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
GUncertain significance
DMD
(Y1729* +7 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(C1975* +8 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(L1525* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(Q1046* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
DMD
(S206* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(L1751* +8 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(R1942* +8 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(E1187* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(K775* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(K491* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(K1628* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(C110* +8 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(K1727* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(K1800* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(L1449* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(K1054* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
DMD
(L326* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(K1739* +5 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(S835* +3 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+1 more
GLikely pathogenic
DMD
(N1101K +3 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
GUncertain significance
DMD
Indel
(missense variant +1 more)
Becker muscular dystrophy
GUncertain significance
DMD
Deletion
Becker muscular dystrophy
GLikely pathogenic
DMD
(L2162* +5 more)
Single nucleotide variant
(nonsense +1 more)
Becker muscular dystrophy
+1 more
GPathogenic
DMD
Deletion
(splice donor variant)
Becker muscular dystrophy
GPathogenic
DMD
(L204fs +3 more)
Duplication
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(I122fs +3 more)
Insertion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(E244fs +3 more)
Duplication
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(K371* +3 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Becker muscular dystrophy
GPathogenic
DMD
Duplication
(genic upstream transcript variant)
Becker muscular dystrophy
GPathogenic
DMD
(Y498* +3 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
GPathogenic
DMD
(A525fs +3 more)
Duplication
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(E616fs +3 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
Deletion
(splice acceptor variant)
Becker muscular dystrophy
GPathogenic
DMD
(E646* +3 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
GPathogenic
DMD
(I710fs +3 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(R1201fs +3 more)
Insertion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(W1228fs +3 more)
Insertion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
Deletion
(genic upstream transcript variant)
Becker muscular dystrophy
GPathogenic
DMD
(N122fs +5 more)
Duplication
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(K1452* +5 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
GPathogenic
DMD
(K1473* +5 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
GPathogenic
DMD
(K1502fs +5 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(K1570fs +5 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(Q1588fs +5 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(R1719fs +5 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(Q2031fs +5 more)
Duplication
(frameshift variant +1 more)
Becker muscular dystrophy
GPathogenic
DMD
(Q2049* +5 more)
Single nucleotide variant
(nonsense +1 more)
Becker muscular dystrophy
GPathogenic
DMD
(E2149* +5 more)
Single nucleotide variant
(nonsense +1 more)
Becker muscular dystrophy
GPathogenic
DMD
(L2214* +5 more)
Single nucleotide variant
(nonsense +1 more)
Becker muscular dystrophy
GPathogenic
DMD
Deletion
(intron variant)
Becker muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Becker muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Becker muscular dystrophy
GPathogenic
DMD
(K1392* +6 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
DMD
(V1429fs +7 more)
Duplication
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(E1472* +7 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
GPathogenic
DMD
(I1721fs +7 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(L1751fs +8 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
Deletion
(splice donor variant)
Becker muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Becker muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Becker muscular dystrophy
GPathogenic
DMD
(Q1819* +8 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
GPathogenic
DMD
(D145fs +8 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(R148fs +8 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(G188fs +8 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
See cases
+1 more
GPathogenic/Likely pathogenic
DMD
(M1941fs +8 more)
Duplication
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
(A1959fs +8 more)
Deletion
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Becker muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(stop lost +1 more)
Becker muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(3 prime UTR variant +1 more)
Becker muscular dystrophy
GPathogenic
DMD
(A1087fs +11 more)
Duplication
(frameshift variant)
Becker muscular dystrophy
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Becker muscular dystrophy
GLikely pathogenic
DMD
Deletion
Duchenne muscular dystrophy
+1 more
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
+2 more
GLikely benign
DMD
Single nucleotide variant
(intron variant)
Becker muscular dystrophy
+2 more
GLikely benign
DMD
Single nucleotide variant
(synonymous variant +1 more)
Becker muscular dystrophy
+2 more
GLikely benign
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