U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 936

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMD
(E3657D +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
(M3627V +11 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
(T3616A +11 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
DMD
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DMD
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
DMD
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DMD
(R3554W +11 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
DMD
(Q1078fs +11 more)
Duplication
(frameshift variant)
not provided
GPathogenic
DMD
(P3419fs +11 more)
Deletion
(frameshift variant)
not provided
GPathogenic
DMD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
(P2197R +10 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
(E3532K +11 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
DMD
(H3531R +11 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DMD
(Y3524* +11 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DMD
Duplication
(genic downstream transcript variant)
not provided
+1 more
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
DMD
(E3507* +10 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
DMD
(E1042fs +10 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic/Likely pathogenic
DMD
(Q3493* +10 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
DMD
(R3489C +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
(L3481fs +10 more)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
DMD
(L1012fs +9 more)
Deletion
(frameshift variant +1 more)
not provided
+3 more
GPathogenic
DMD
Deletion
(nonsense +1 more)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(S2139fs +10 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
DMD
(Y2113fs +10 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
DMD
(N3451S +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DMD
(R3436C +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DMD
(D3431N +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
(Q3427* +10 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
DMD
Single nucleotide variant
(splice donor variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DMD
(A3421V +8 more)
Single nucleotide variant
(intron variant +1 more)
not specified
+2 more
GUncertain significance
DMD
(S2076fs +8 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
DMD
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(splice donor variant +1 more)
not provided
+2 more
GPathogenic
DMD
(R3391* +8 more)
Single nucleotide variant
(nonsense)
Becker muscular dystrophy
+4 more
GPathogenic
DMD
(R2043fs +8 more)
Deletion
(frameshift variant)
not provided
GPathogenic
DMD
(K3383Q +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
(R3381* +8 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
DMD
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
DMD
Deletion
(nonsense)
Duchenne muscular dystrophy
+4 more
GPathogenic
DMD
(R3370* +8 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DMD
(E3367del +8 more)
Microsatellite
(inframe_deletion)
Becker muscular dystrophy
+3 more
GPathogenic/Likely pathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
DMD
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
DMD
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
DMD
Single nucleotide variant
(splice donor variant)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 3B
+2 more
GPathogenic
DMD
(Y3354* +8 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DMD
(R3345* +8 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DMD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
(Y3326* +8 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
Duchenne muscular dystrophy
+1 more
GPathogenic
DMD
(C3319R +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GUncertain significance
DMD
(C3313Y +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GUncertain significance
DMD
(C3313S +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
(K1968F +8 more)
Indel
(missense variant)
not provided
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DMD
(Q3310R +8 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DMD
(M3292V +8 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMD
(E3288* +8 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DMD
(A3278T +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
(P3274A +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DMD
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
DMD
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
DMD
(S528fs +8 more)
Duplication
(frameshift variant)
not provided
GPathogenic
DMD
(Q3243* +8 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
DMD
(R3228C +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DMD
(F3228L +8 more)
Single nucleotide variant
(missense variant)
DMD-related condition
+6 more
GBenign/Likely benign
DMD
(T3226I +8 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
DMD
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 3B
+3 more
GBenign
DMD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
(R3190Q +8 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DMD
(R3190* +8 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
DMD
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DMD
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
DMD
(T3188M +8 more)
Single nucleotide variant
(missense variant)
Duchenne muscular dystrophy
+1 more
GUncertain significance
DMD
(V3185I +8 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DMD
(N3167D +8 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DMD
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
DMD
(R3160H +8 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 3B
+5 more
GConflicting classifications of pathogenicity
DMD
Deletion
(intron variant)
not provided
+1 more
GUncertain significance
DMD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DMD
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
DMD
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
DMD
(R3113* +8 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
DMD
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
DMD
(A3109S +8 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
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)
not provided
+2 more
GPathogenic
Format
Items per page
Sort by
Choose Destination