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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNE
(M712T +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GPathogenic
GNE
(V696M +5 more)
Single nucleotide variant
(missense variant)
GNE-related condition
+3 more
GConflicting classifications of pathogenicity
GNE
(A631V +5 more)
Single nucleotide variant
(missense variant)
Sialuria
+2 more
GPathogenic
GNE
(I587T +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
GNE
(V572L +5 more)
Single nucleotide variant
(missense variant)
GNE myopathy
+2 more
GPathogenic
GNE
(A524V +4 more)
Single nucleotide variant
(missense variant +1 more)
GNE myopathy
+2 more
GPathogenic/Likely pathogenic
GNE
(D378Y +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
GNE
(R266Q +4 more)
Single nucleotide variant
(missense variant)
Sialuria
+1 more
GPathogenic
GNE
(R266W +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
GNE
(R263L +4 more)
Single nucleotide variant
(missense variant)
Sialuria
GLikely pathogenic
GNE
(R246Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+2 more
GPathogenic/Likely pathogenic
GNE
(D207V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
GNE
(C13S +1 more)
Single nucleotide variant
(missense variant +1 more)
Sialuria
+2 more
GPathogenic
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