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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EMD
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
EMD
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
EMD
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
+1 more
GUncertain significance
EMD
(F39del)
Deletion
(inframe_deletion)
not provided
+1 more
GUncertain significance
EMD
(Q44*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GPathogenic
EMD
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
EMD
(P50H)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
+1 more
GUncertain significance
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
EMD
(D72V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
EMD
(E80fs)
Insertion
(frameshift variant)
not provided
GPathogenic
EMD
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
EMD
(L84fs)
Deletion
(frameshift variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+3 more
GPathogenic
EMD
Single nucleotide variant
(splice acceptor variant)
Neuromuscular disease
+2 more
GPathogenic
EMD
(N91S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
EMD
Deletion
(inframe_deletion)
not provided
GLikely pathogenic
EMD
(Y99H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
EMD
(Q119K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EMD
(Q119*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
EMD
(A129T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
EMD
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
EMD
(S143F)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
EMD
(E144*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
EMD
(D149H)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
EMD
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
EMD
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GUncertain significance
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(splice acceptor variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+2 more
GPathogenic/Likely pathogenic
EMD
(R152C)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+3 more
GConflicting classifications of pathogenicity
EMD
(M154V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EMD
(R157fs)
Deletion
(frameshift variant)
not provided
GPathogenic
EMD
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+3 more
GBenign
EMD
(G156R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
EMD
(G156S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
EMD
(Q162*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
EMD
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
EMD
(R168C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
EMD
(S171*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
EMD
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
+3 more
GConflicting classifications of pathogenicity
EMD
(P183L)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EMD
(T188P)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
EMD
(R204G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EMD
(G216R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
EMD
(R221L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
EMD
(F235S)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
+1 more
GUncertain significance
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