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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEU1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
NEU1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
NEU1
(R357W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NEU1
(P311R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEU1
(G243R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
NEU1
(G227R)
Single nucleotide variant
(missense variant)
Sialidosis
+2 more
GPathogenic
NEU1
(V217M)
Single nucleotide variant
(missense variant)
Sialidosis
+1 more
GPathogenic/Likely pathogenic
NEU1
(L215P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEU1
(S182G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
NEU1
(G88A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
NEU1
Single nucleotide variant
not provided
GLikely benign
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