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Links from MedGen

Items: 1 to 100 of 472

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(K79N)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
(T184del)
Deletion
(inframe_deletion)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
(T14N)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(P51R)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GBenign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(A215fs)
Deletion
(frameshift variant)
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Deletion
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(Y41D)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(K79R)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(splice donor variant)
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(F254L)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
(Q133fs)
Duplication
(frameshift variant)
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(splice donor variant)
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic
EMD
Deletion
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(W200L)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(D126G)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(P153S)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(W226fs)
Deletion
(frameshift variant)
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic
EMD
(Q228R)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
(R32T)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
(R31P)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Insertion
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(R168L)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
(S29L)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
(Q119R)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(Q86*)
Single nucleotide variant
(nonsense)
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(S49fs)
Duplication
(frameshift variant)
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic
EMD
(K88*)
Single nucleotide variant
(nonsense)
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic
EMD
Deletion
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(T184I)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
(G112S)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(I164V)
Single nucleotide variant
(missense variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
EMD
(Y94*)
Single nucleotide variant
(nonsense)
X-linked Emery-Dreifuss muscular dystrophy
+1 more
GPathogenic/Likely pathogenic
EMD, LOC107988033
+3 more
Copy number loss
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic
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
(S185P)
Single nucleotide variant
(missense variant)
Emery-Dreifuss muscular dystrophy 1, X-linked
+1 more
GUncertain significance
EMD
Deletion
X-linked Emery-Dreifuss muscular dystrophy
GPathogenic
OPN1MW, OPN1MW2
+10 more
Duplication
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
ABCD1, ARHGAP4
+73 more
Deletion
X-linked Emery-Dreifuss muscular dystrophy
+8 more
GPathogenic
EMD
Single nucleotide variant
(intron variant)
X-linked Emery-Dreifuss muscular dystrophy
GUncertain significance
EMD
Single nucleotide variant
(synonymous variant)
X-linked Emery-Dreifuss muscular dystrophy
GLikely benign
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