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Links from MedGen

Items: 1 to 100 of 652

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNE
(R9T)
Single nucleotide variant
(missense variant +1 more)
GNE myopathy
+1 more
GUncertain significance
GNE
Duplication
GNE myopathy
+1 more
GLikely pathogenic
GNE
Duplication
GNE myopathy
+1 more
GLikely pathogenic
GNE
Deletion
GNE myopathy
+1 more
GPathogenic
GNE
Deletion
GNE myopathy
+1 more
GPathogenic
GNE
Deletion
GNE myopathy
+1 more
GPathogenic
GNE
Single nucleotide variant
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GLikely benign
GNE
(Q383H +4 more)
Single nucleotide variant
(missense variant +1 more)
GNE myopathy
+1 more
GUncertain significance
GNE
(L394V +4 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
(E400D +4 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant +1 more)
GNE myopathy
+1 more
GLikely benign
GNE
(W403* +4 more)
Single nucleotide variant
(nonsense +1 more)
GNE myopathy
+2 more
GPathogenic
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(R143H +2 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(S266F +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+1 more
GLikely benign
GNE
(D468H +5 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GUncertain significance
GNE
(H480Y +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GLikely benign
GNE
Insertion
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(V282I +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(T643R +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
(I413V +4 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
(P36H +1 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
Insertion
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
(Y217H +2 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GPathogenic
GNE
(D208N +2 more)
Single nucleotide variant
(missense variant +1 more)
GNE myopathy
+1 more
GLikely pathogenic
GNE
(Y565C +5 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
(K186T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
(F69L +1 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
Deletion
(frameshift variant)
Sialuria
+1 more
GPathogenic
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
(Q8*)
Single nucleotide variant
(nonsense +1 more)
Sialuria
+1 more
GPathogenic
GNE
(Q30K)
Single nucleotide variant
(missense variant +2 more)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Microsatellite
(intron variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+1 more
GLikely benign
GNE
(M661fs +5 more)
Deletion
(frameshift variant)
Sialuria
+1 more
GPathogenic
GNE
Insertion
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
(I528V +5 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GUncertain significance
GNE
(T34S +1 more)
Single nucleotide variant
(missense variant +1 more)
GNE myopathy
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant +1 more)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant +1 more)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant +2 more)
Sialuria
+1 more
GLikely benign
GNE
(V116M +2 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GUncertain significance
GNE
(K29T)
Single nucleotide variant
(missense variant +2 more)
GNE myopathy
+1 more
GUncertain significance
GNE
(R371W +4 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
(T397I +4 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
(V620M +5 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GUncertain significance
GNE
(C183S +2 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
(I678T +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
(D629E +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
(R684H +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant +1 more)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GLikely benign
GNE
(R129G +2 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GUncertain significance
GNE
(A26F +1 more)
Indel
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant +2 more)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
Insertion
(nonsense +1 more)
Sialuria
+1 more
GPathogenic
GNE
(G326V +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
(D149A +2 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
Insertion
(nonsense)
Sialuria
+1 more
GPathogenic
GNE
(K157fs +4 more)
Deletion
(frameshift variant)
GNE myopathy
+1 more
GPathogenic
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(V628D +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant +1 more)
GNE myopathy
+1 more
GLikely benign
GNE
Insertion
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
(T370I +4 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GUncertain significance
GNE
Insertion
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Microsatellite
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
(I229V +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GLikely benign
GNE
Insertion
(intron variant)
Sialuria
+1 more
GLikely benign
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