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Links from MedGen

Items: 1 to 100 of 112

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
(E245K +1 more)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+1 more
GConflicting classifications of pathogenicity
DES
(A281P +5 more)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES, LOC110121267
+2 more
Duplication
Dilated cardiomyopathy 1I
GUncertain significance
DES
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1I
GUncertain significance
DES
(A359S +3 more)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+3 more
GUncertain significance
DES
(S82F)
Single nucleotide variant
(missense variant)
Neurogenic scapuloperoneal syndrome, Kaeser type
+2 more
GUncertain significance
DES
(H325R +2 more)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(R346C +4 more)
Indel
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+2 more
GUncertain significance
DES
(E205D)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1I
+3 more
GUncertain significance
DES
(Q165R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DES
(I276L +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DES
(W294* +2 more)
Single nucleotide variant
(nonsense +1 more)
Desmin-related myofibrillar myopathy
+3 more
GPathogenic/Likely pathogenic
DES
(E283del +4 more)
Microsatellite
(inframe_deletion +1 more)
Desmin-related myofibrillar myopathy
+2 more
GUncertain significance
DES
(A270V +3 more)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+4 more
GUncertain significance
DES
(S28F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
DES
(R173S)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1I
+3 more
GUncertain significance
DES
(G61D)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+2 more
GUncertain significance
DES
(A135G)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+2 more
GUncertain significance
DES
Single nucleotide variant
(3 prime UTR variant)
Desmin-related myofibrillar myopathy
+2 more
GBenign/Likely benign
DES
Single nucleotide variant
(3 prime UTR variant)
Desmin-related myofibrillar myopathy
+2 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(3 prime UTR variant)
Desmin-related myofibrillar myopathy
+2 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(3 prime UTR variant)
Desmin-related myofibrillar myopathy
+2 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1I
+2 more
GUncertain significance
DES
Single nucleotide variant
(3 prime UTR variant)
Desmin-related myofibrillar myopathy
+2 more
GUncertain significance
DES
Single nucleotide variant
(3 prime UTR variant)
Desmin-related myofibrillar myopathy
+2 more
GUncertain significance
DES
Single nucleotide variant
(intron variant)
Neurogenic scapuloperoneal syndrome, Kaeser type
+2 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(3 prime UTR variant)
Neurogenic scapuloperoneal syndrome, Kaeser type
+2 more
GUncertain significance
DES
(Y83H)
Single nucleotide variant
(missense variant)
Neurogenic scapuloperoneal syndrome, Kaeser type
+2 more
GUncertain significance
DES, DES-LCR
Single nucleotide variant
(5 prime UTR variant)
Neurogenic scapuloperoneal syndrome, Kaeser type
+2 more
GUncertain significance
DES
(A273T)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+2 more
GUncertain significance
DES
(E108*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1I
+3 more
GPathogenic
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
+3 more
GLikely benign
DES
(P22R)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+2 more
GUncertain significance
DES
(A221V)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+4 more
GUncertain significance
DES
(T76fs)
Deletion
(frameshift variant)
Desmin-related myofibrillar myopathy
+2 more
GPathogenic
DES
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DES
(T442N)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+6 more
GUncertain significance
DES
(R415Q)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+3 more
GUncertain significance
DES
(R355*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
DES
(R350Q)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+4 more
GUncertain significance
DES
(S31R)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+3 more
GUncertain significance
DES
(V56E)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+5 more
GUncertain significance
DES
(T77A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DES
(R383H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
DES
(R369C)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+4 more
GUncertain significance
DES
(D181N)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+1 more
GUncertain significance
DES
(H243R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DES
(E156K)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+4 more
GUncertain significance
DES
(R37G)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+3 more
GUncertain significance
DES
(Q131K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DES
(R355Q)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+3 more
GUncertain significance
DES
(A337T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
DES
(R406Q)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
DES
Single nucleotide variant
(3 prime UTR variant)
Desmin-related myofibrillar myopathy
+4 more
GBenign/Likely benign
DES
Single nucleotide variant
(3 prime UTR variant)
Myofibrillar Myopathy, Dominant
+3 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(3 prime UTR variant)
Myofibrillar Myopathy, Dominant
+3 more
GUncertain significance
DES
Single nucleotide variant
(3 prime UTR variant)
Myofibrillar Myopathy, Dominant
+4 more
GBenign/Likely benign
DES
Single nucleotide variant
(3 prime UTR variant)
Desmin-related myofibrillar myopathy
+3 more
GUncertain significance
DES
Single nucleotide variant
(3 prime UTR variant)
Myofibrillar Myopathy, Dominant
+3 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GUncertain significance
DES, DES-LCR
Single nucleotide variant
(5 prime UTR variant)
Desmin-related myofibrillar myopathy
+3 more
GUncertain significance
DES
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DES
(R429Q)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+5 more
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
+7 more
GConflicting classifications of pathogenicity
DES
(R37W)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+5 more
GUncertain significance
DES
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
DES
(M346I)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+3 more
GUncertain significance
DES
(A313T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DES
(V215M)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
DES
(R212*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
DES
(R78L)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+2 more
GUncertain significance
DES
(V56L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
DES
(R415W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DES
(R375W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
DES
(D343N)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+4 more
GUncertain significance
DES
(H243Y)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DES
(R227H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DES-LCR, DES
Single nucleotide variant
(5 prime UTR variant)
Myofibrillar Myopathy, Dominant
+4 more
GBenign/Likely benign
DES
Single nucleotide variant
(intron variant)
Desmin-related myofibrillar myopathy
+3 more
GBenign/Likely benign
DES
(S72R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
DES
(R222H)
Single nucleotide variant
(missense variant)
Myofibrillar Myopathy, Dominant
+6 more
GConflicting classifications of pathogenicity
DES
(R212Q)
Single nucleotide variant
(missense variant)
Myofibrillar Myopathy, Dominant
+8 more
GConflicting classifications of pathogenicity
DES
(S298L)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+5 more
GConflicting classifications of pathogenicity
DES
(E245D)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+2 more
GPathogenic/Likely pathogenic
DES
(E108K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+3 more
GUncertain significance
DES
(T445A)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
DES
(D312N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
DES
Deletion
DES-related condition
+10 more
GBenign/Likely benign
DES
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign
DES
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
DES
(A237T)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+4 more
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
DES
(A213V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(intron variant)
Myofibrillar Myopathy, Dominant
+5 more
GBenign
DES
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
DES
(L136H)
Single nucleotide variant
(missense variant)
Respiratory insufficiency due to muscle weakness
+20 more
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Myofibrillar Myopathy, Dominant
+6 more
GBenign/Likely benign
DES
(G65S)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+4 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(synonymous variant)
Myofibrillar Myopathy, Dominant
+7 more
GConflicting classifications of pathogenicity
DES
(S57L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
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