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Links from MedGen

Items: 1 to 100 of 816

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
(F488V +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
(A659V +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
(I309L +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(splice donor variant)
GNE myopathy
+1 more
GLikely pathogenic
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(N344K +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(splice donor variant)
Sialuria
+1 more
GPathogenic
GNE
(Q244* +4 more)
Single nucleotide variant
(nonsense)
Sialuria
+1 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
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron 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
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+1 more
GLikely benign
GNE
(P588L +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
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
(Y601* +5 more)
Single nucleotide variant
(nonsense)
Sialuria
+1 more
GPathogenic
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(G236A +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
(S11L)
Single nucleotide variant
(missense variant +1 more)
GNE myopathy
+1 more
GUncertain significance
GNE
(E18K)
Single nucleotide variant
(missense variant +2 more)
Sialuria
+1 more
GUncertain significance
GNE
(R308H +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
(L239* +4 more)
Single nucleotide variant
(nonsense)
Sialuria
+1 more
GPathogenic
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(L297P +4 more)
Single nucleotide variant
(missense 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
(L211fs +2 more)
Deletion
(frameshift variant)
Sialuria
+1 more
GPathogenic
GNE
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+1 more
GLikely benign
GNE
Deletion
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Deletion
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(A312P +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(splice donor variant)
Sialuria
+1 more
GLikely pathogenic
GNE
Single nucleotide variant
(intron 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
Microsatellite
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(T379I +4 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
(H436R +4 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
(K249Q +4 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GUncertain significance
GNE
Single nucleotide variant
(splice acceptor variant)
GNE myopathy
+1 more
GLikely pathogenic
GNE
Deletion
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
(Y302F +4 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+1 more
GLikely benign
GNE
(A352P +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
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
(H689fs +5 more)
Deletion
(frameshift variant)
GNE myopathy
+1 more
GPathogenic
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
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
GNE myopathy
+1 more
GLikely benign
GNE
(I31V)
Single nucleotide variant
(intron variant +2 more)
Sialuria
+1 more
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Insertion
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
(K422E +4 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+1 more
GUncertain significance
GNE
(F338L +4 more)
Single nucleotide variant
(missense variant)
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
GLikely benign
GNE
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(splice acceptor variant)
Sialuria
+1 more
GLikely pathogenic
GNE
(I2fs +2 more)
Deletion
(frameshift variant +1 more)
Sialuria
+1 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
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+1 more
GLikely benign
GNE
Single nucleotide variant
(intron 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)
Sialuria
+1 more
GLikely benign
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