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Items: 1 to 100 of 144

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNE
(M712T +5 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+2 more
GPathogenic
GNE
(L738P +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
(A736T +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GUncertain significance
GNE
(V727L +5 more)
Single nucleotide variant
(missense variant)
GNE-related condition
+4 more
GConflicting classifications of pathogenicity
GNE
(V696M +5 more)
Single nucleotide variant
(missense variant)
GNE-related condition
+3 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+2 more
GConflicting classifications of pathogenicity
GNE
(R715C +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GUncertain significance
GNE
(D681E +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
(H708Y +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GUncertain significance
GNE
(H674R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
(G700R +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
(S668F +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNE
(Q670* +5 more)
Single nucleotide variant
(nonsense)
GNE myopathy
+2 more
GPathogenic/Likely pathogenic
GNE
Single nucleotide variant
(synonymous variant)
GNE-related condition
+4 more
GConflicting classifications of pathogenicity
GNE
(A636V +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GNE
(A631V +5 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+2 more
GPathogenic
GNE
Single nucleotide variant
(synonymous variant)
Inclusion Body Myopathy, Recessive
+4 more
GBenign/Likely benign
GNE
(A655V +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GNE
(S646* +5 more)
Single nucleotide variant
(nonsense)
Sialuria
+2 more
GPathogenic
GNE
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
GNE
(L603F +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNE
(A631T +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
(E630fs +5 more)
Microsatellite
(frameshift variant)
GNE myopathy
+2 more
GPathogenic/Likely pathogenic
GNE
(A591T +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+3 more
GBenign/Likely benign
GNE
(I587T +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GPathogenic
GNE
(C581F +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GNE
(P577T +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
(V572L +5 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+2 more
GPathogenic
GNE
(C453fs +5 more)
Deletion
(frameshift variant)
Sialuria
+2 more
GPathogenic/Likely pathogenic
GNE
(G590R +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+3 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
(I588T +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
(I582V +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(intron variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
Deletion
(splice donor variant +1 more)
not provided
GPathogenic
GNE
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
(F528C +4 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
GNE
(N547H +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
GNE
(P511S +4 more)
Single nucleotide variant
(missense variant +1 more)
GNE myopathy
+2 more
GConflicting classifications of pathogenicity
GNE
(H509P +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNE
(L504F +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant +1 more)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
(R512Q +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
GNE
(G471D +4 more)
Single nucleotide variant
(missense variant +1 more)
GNE myopathy
+1 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(intron variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
(V470L +4 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+2 more
GUncertain significance
GNE
(A460V +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNE
(Y434C +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
GNE myopathy
+3 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(synonymous variant)
GNE myopathy
+4 more
GUncertain significance
GNE
(M457L +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GUncertain significance
GNE
(I454V +4 more)
Single nucleotide variant
(missense variant)
GNE-related condition
+5 more
GConflicting classifications of pathogenicity
GNE
(R451Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GNE
(T417M +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
(G447R +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+3 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+3 more
GLikely benign
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
(V443I +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNE
(I427L +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
Deletion
(inframe_deletion)
not provided
GUncertain significance
GNE
(K386Q +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GUncertain significance
GNE
(D378Y +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNE
(I377V +4 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+2 more
GUncertain significance
GNE
(S376P +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GNE
(F404V +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GUncertain significance
GNE
(D394N +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
Single nucleotide variant
(intron variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
Duplication
(splice donor variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
(Y386H +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
(Q340H +4 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+2 more
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
Sialuria
+2 more
GConflicting classifications of pathogenicity
GNE
(R366W +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNE
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GNE
(R321C +4 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+1 more
GConflicting classifications of pathogenicity
GNE
(N317D +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
(R306Q +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
(I298T +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GNE
(M297T +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
Single nucleotide variant
(synonymous variant)
GNE-related condition
+4 more
GConflicting classifications of pathogenicity
GNE
(R277G +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
(R277C +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GNE
Single nucleotide variant
(synonymous variant)
GNE-related condition
+3 more
GConflicting classifications of pathogenicity
GNE
(M261I +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNE
Duplication
(intron variant)
GNE myopathy
+3 more
GUncertain significance
GNE
(L250M +2 more)
Single nucleotide variant
(missense variant +1 more)
GNE myopathy
+1 more
GUncertain significance
GNE
(R246Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
GNE
(R277W +2 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+2 more
GPathogenic
GNE
Single nucleotide variant
(synonymous variant +1 more)
GNE myopathy
+2 more
GConflicting classifications of pathogenicity
GNE
(I272S +2 more)
Single nucleotide variant
(missense variant +1 more)
GNE myopathy
+2 more
GConflicting classifications of pathogenicity
GNE
(L268F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNE
(L268S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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