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Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
(S2I)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GPathogenic/Likely pathogenic
DES
(S12F)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+3 more
GPathogenic/Likely pathogenic
DES
(S13F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
DES
(R16C)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy
GPathogenic
DES
(S46F)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
DES
(S46Y)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
DES
(E108K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DES
(E114del)
Deletion
(inframe_deletion)
not provided
Gnot provided
DES
(Q113fs)
Deletion
(frameshift variant)
not provided
Gnot provided
DES
(N116S)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GPathogenic/Likely pathogenic
DES
Deletion
(inframe_deletion)
Desmin-related myofibrillar myopathy
GPathogenic
DES
(A213V)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(splice acceptor variant +1 more)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
Single nucleotide variant
(splice acceptor variant +1 more)
Desmin-related myofibrillar myopathy
GPathogenic
DES
(V242fs)
Duplication
(frameshift variant)
not provided
Gnot provided
DES
(E245D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+2 more
GPathogenic/Likely pathogenic
DES
Deletion
(splice donor variant)
not provided
Gnot provided
DES
Single nucleotide variant
(intron variant)
not provided
+3 more
GPathogenic
DES
(L274R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DES
(L274P)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
DES
(S298L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
DES
(D312N)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
DES
(A337P)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+1 more
GPathogenic
DES
(L338R)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GPathogenic/Likely pathogenic
DES
(N342D)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GPathogenic
DES
(L345P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DES
(R350W)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
DES
(R350P)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GPathogenic
DES
(R355P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DES
Deletion
(inframe_deletion)
not provided
GPathogenic
DES
(A357P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
DES
(N366del +4 more)
Microsatellite
(inframe_deletion +1 more)
Desmin-related myofibrillar myopathy
+1 more
GConflicting classifications of pathogenicity
DES
(I367F)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
DES
(L370P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
DES
(H376Y)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
DES
(L385P)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GPathogenic
DES
(Q389P)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GPathogenic
DES
(L392P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DES
(N393I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
DES
(D399Y)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GLikely pathogenic
DES
(E401K)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GLikely pathogenic
DES
(R406W)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+3 more
GPathogenic/Likely pathogenic
DES
(E413K)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GPathogenic/Likely pathogenic
DES
(P419S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DES
(T442I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
DES
(T445A)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DES
(K449T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
DES
(I451M)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+4 more
GUncertain significance
DES
(T453I)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GConflicting classifications of pathogenicity
DES
(R454W)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
DES
(E457V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
DES
(V459I)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+8 more
GBenign/Likely benign
DES
(S460I)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
DES
(V469M)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
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