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Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
(Q3*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
DES
(S12F)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
DES
(S13Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DES
(R15S)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(G19R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DES
(A21T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DES
(V34M)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(F35L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DES
(R37W)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
DES
(V56L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
DES
(V56E)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
DES
(S57L)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+5 more
GConflicting classifications of pathogenicity
DES
(G65S)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+5 more
GConflicting classifications of pathogenicity
DES
(L69P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DES
(S72R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DES
(R73Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DES
(G84S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
DES
(Q99E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DES
(E100A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DES
(R127H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DES
(Q131K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DES
(A135V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
DES
(L136H)
Single nucleotide variant
(missense variant)
not provided
+20 more
GUncertain significance
DES
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
DES
Deletion
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
DES
(D185V)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(R189W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DES
(E202fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
DES
(A204S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DES
(A209P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DES
(R212Q)
Single nucleotide variant
(missense variant)
See cases
+8 more
GConflicting classifications of pathogenicity
DES
(V215M)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+7 more
GConflicting classifications of pathogenicity
DES
(T219I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
DES
(R222H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+6 more
GConflicting classifications of pathogenicity
DES
(L232F)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(A236S +1 more)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+2 more
GUncertain significance
DES
(A237T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
DES
(H243Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DES
Single nucleotide variant
(splice donor variant +1 more)
not provided
GLikely pathogenic
DES
(E262V)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+4 more
GConflicting classifications of pathogenicity
DES
(S298L)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
DES
(D312N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
DES
(D312A)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+3 more
GConflicting classifications of pathogenicity
DES
(A313T)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DES
(R315C)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(R315H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
DES
(Q229P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DES
(M321K +2 more)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(D343N)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+4 more
GUncertain significance
DES
(S344P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DES
(L345P)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GPathogenic/Likely pathogenic
DES
(R350W)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+6 more
GConflicting classifications of pathogenicity
DES
(R350Q)
Single nucleotide variant
(missense variant)
Neurogenic scapuloperoneal syndrome, Kaeser type
+4 more
GUncertain significance
DES
(R355*)
Single nucleotide variant
(nonsense)
Desmin-related myofibrillar myopathy
+3 more
GConflicting classifications of pathogenicity
DES
(R355P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DES
(A359S +3 more)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+3 more
GUncertain significance
DES
(Q274K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
DES
(A368V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DES
(R375W)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1A
+5 more
GUncertain significance
DES
(L247P +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DES
(A307S +5 more)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(R316L +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DES
(R415W)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+4 more
GUncertain significance
DES
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DES
(R429Q)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
DES
(I304V +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DES
(E308K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 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)
Primary dilated cardiomyopathy
+4 more
GPathogenic/Likely pathogenic
DES
(D311V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
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