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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EMD
(Q222fs)
Insertion
(frameshift variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
GLikely pathogenic
EMD
(S54F)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
GLikely pathogenic
EMD
(C147*)
Single nucleotide variant
(nonsense)
Emery-Dreifuss muscular dystrophy 1, X-linked
GLikely pathogenic
EMD
(Y94*)
Single nucleotide variant
(nonsense)
Emery-Dreifuss muscular dystrophy 1, X-linked
+1 more
GPathogenic/Likely pathogenic
EMD
Single nucleotide variant
(intron variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+1 more
GUncertain significance
EMD
(S175N)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+1 more
GUncertain significance
EMD
(R152H)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
GUncertain significance
EMD
(S185P)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+1 more
GUncertain significance
EMD
(E107D)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
+1 more
GUncertain significance
EMD
(L225fs)
Deletion
(frameshift variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+1 more
GPathogenic/Likely pathogenic
EMD
(H135Y)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
+1 more
GConflicting classifications of pathogenicity
EMD
(S141F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
EMD
(Y167C)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
+2 more
GUncertain significance
EMD
(K37del)
Microsatellite
(inframe_deletion)
not provided
+3 more
GConflicting classifications of pathogenicity
EMD
(F39fs)
Deletion
(frameshift variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+1 more
GPathogenic
EMD
(V134M)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+2 more
GUncertain significance
EMD
(L84fs)
Deletion
(frameshift variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+3 more
GPathogenic
EMD
(R204G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
EMD
(N20fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
EMD
(E35K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
EMD
(P224L)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+2 more
GConflicting classifications of pathogenicity
EMD
(R204C)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+2 more
GUncertain significance
EMD
(R152C)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+3 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
(M191V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
EMD
Single nucleotide variant
(synonymous variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+3 more
GBenign
EMD
(R157Q)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+2 more
GConflicting classifications of pathogenicity
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