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Links from MedGen

Items: 1 to 100 of 280

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENO3
Single nucleotide variant
(splice donor variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely pathogenic
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Duplication
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
+1 more
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(R284S +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(R400H +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
+1 more
GUncertain significance
ENO3
Deletion
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(V118M +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(E250K +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(A225T +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(A143T +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(R210H +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(T214A +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(A184V +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(stop lost)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(S282R +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
+1 more
GUncertain significance
ENO3
(A138P +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(E88* +1 more)
Single nucleotide variant
(nonsense +1 more)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(R386H +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(K394R +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(G234R +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(R183C +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(N230S +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(K389N +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
+2 more
GUncertain significance
ENO3
(Q79* +1 more)
Single nucleotide variant
(nonsense +1 more)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(D419E +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(R369S +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(Y44C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
+1 more
GLikely benign
ENO3
(N71G +1 more)
Indel
(missense variant +1 more)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(R132C +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(Y364* +2 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(T109S +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(V145A +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(E371K +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(R32Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(G165A +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(V137D +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(W322* +2 more)
Single nucleotide variant
(nonsense)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(I350V +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(M411I +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Single nucleotide variant
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
(S166A +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
ENO3
Microsatellite
(intron variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(splice donor variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GLikely benign
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