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Items: 1 to 100 of 145

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMD
Single nucleotide variant
(synonymous variant +1 more)
Becker muscular dystrophy
+2 more
GLikely benign
DMD
(T3675A +10 more)
Single nucleotide variant
(missense variant +1 more)
Duchenne muscular dystrophy
+3 more
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 3B
+3 more
GConflicting classifications of pathogenicity
DMD
(S1069P +11 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 3B
+5 more
GBenign/Likely benign
DMD
(R1001H +11 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
DMD
(L3539V +11 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+4 more
GUncertain significance
DMD
Microsatellite
(intron variant)
Duchenne muscular dystrophy
+3 more
GBenign/Likely benign
DMD
(W3416* +8 more)
Single nucleotide variant
(nonsense +1 more)
Qualitative or quantitative defects of dystrophin
+11 more
GConflicting classifications of pathogenicity
DMD
(N676D +8 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
DMD
(R3391* +8 more)
Single nucleotide variant
(nonsense)
Duchenne muscular dystrophy
+4 more
GPathogenic
DMD
(E3367del +8 more)
Microsatellite
(inframe_deletion)
Becker muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
DMD
(F3228L +8 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GBenign/Likely benign
DMD
(I3194L +8 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DMD
(L1827F +8 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
DMD
(A3118S +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+5 more
GConflicting classifications of pathogenicity
DMD
(R2982Q +7 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign
DMD
(T2809S +7 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 3B
+2 more
GUncertain significance
DMD
(R2905* +7 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
DMD
(R1558W +7 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 3B
+2 more
GConflicting classifications of pathogenicity
DMD
(R141Q +7 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
DMD
(L1459S +6 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DMD
Indel
(splice acceptor variant)
Duchenne muscular dystrophy
+2 more
GPathogenic/Likely pathogenic
DMD
(L1430R +7 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 3B
+2 more
GConflicting classifications of pathogenicity
DMD
(A2747T +7 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DMD
(D2717G +6 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+4 more
GUncertain significance
DMD
(L1350P +6 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GUncertain significance
DMD
(E2685K +6 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
DMD
(R1259I +6 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DMD
(R2571L +6 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DMD
(R1227W +6 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DMD
(E2529Q +6 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DMD
(R2516H +6 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
DMD
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
DMD
(D2501V +6 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+2 more
GUncertain significance
DMD
(R37M +6 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
DMD
(R2477W +6 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
DMD
(Q2288R +5 more)
Single nucleotide variant
(missense variant +1 more)
Duchenne muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DMD
(S2280N +5 more)
Single nucleotide variant
(missense variant +1 more)
Becker muscular dystrophy
+2 more
GUncertain significance
DMD
(R2263C +5 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 3B
+3 more
GUncertain significance
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
+3 more
GLikely pathogenic
DMD
Single nucleotide variant
(synonymous variant +1 more)
Becker muscular dystrophy
+4 more
GLikely benign
DMD
(R2191Q +5 more)
Single nucleotide variant
(missense variant +1 more)
Duchenne muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DMD
Microsatellite
(inframe_insertion +1 more)
Becker muscular dystrophy
+3 more
GUncertain significance
DMD
(I2152T +5 more)
Single nucleotide variant
(missense variant +1 more)
Becker muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
DMD
(E2137Q +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DMD
(R2108C +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
+2 more
GLikely benign
DMD
(Y1872F +4 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(intron variant)
Becker muscular dystrophy
+3 more
GUncertain significance
DMD
(R1957W +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DMD
(R1832C +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DMD
(E1914G +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
DMD
(Q1836E +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GUncertain significance
DMD
(K1771S +5 more)
Indel
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
DMD
(I1757T +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DMD
(R1735C +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
DMD
(R1596H +5 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+3 more
GUncertain significance
DMD
(V375M +5 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+2 more
GUncertain significance
DMD
(T1683S +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GBenign/Likely benign
DMD
(L1551F +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GUncertain significance
DMD
(N1672K +5 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
DMD
(V1659I +5 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+2 more
GUncertain significance
DMD
(E1633D +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DMD
(N237D +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 3B
+3 more
GUncertain significance
DMD
(M1572I +5 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+2 more
GUncertain significance
DMD
(Q151E +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GUncertain significance
DMD
(V1370M +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GUncertain significance
DMD
(E124D +5 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GUncertain significance
DMD
(G1211R +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GUncertain significance
DMD
(Q1328E +3 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
DMD
(D1318E +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
DMD
(D1318G +3 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 3B
+3 more
GConflicting classifications of pathogenicity
DMD
(A1084T +3 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+2 more
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
DMD
(L1119V +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+4 more
GConflicting classifications of pathogenicity
DMD
(I1115T +3 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+3 more
GUncertain significance
DMD
(L1078F +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DMD
(M1064V +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Duchenne muscular dystrophy
+4 more
GBenign/Likely benign
DMD
(R1051* +3 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
+4 more
GPathogenic
DMD
(Q923P +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GUncertain significance
DMD
(A1006V +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GUncertain significance
DMD
(D971V +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DMD
(M948V +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+4 more
GBenign/Likely benign
DMD
(F922V +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
DMD
(A909V +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GUncertain significance
DMD
(N851H +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+2 more
GConflicting classifications of pathogenicity
DMD
(Q840E +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
Becker muscular dystrophy
+4 more
GBenign
DMD
Single nucleotide variant
(intron variant)
Becker muscular dystrophy
+2 more
GLikely benign
DMD
(R659S +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
DMD
(L777P +3 more)
Single nucleotide variant
(missense variant)
Becker muscular dystrophy
+3 more
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
Becker muscular dystrophy
+2 more
GLikely benign
DMD
(R775G +3 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DMD
(A771V +3 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 3B
+3 more
GUncertain significance
DMD
(D750G +3 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+3 more
GUncertain significance
DMD
(G754V +3 more)
Single nucleotide variant
(missense variant)
DMD-related disorder
+5 more
GBenign/Likely benign
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