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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEU1
(S410fs)
Indel
(frameshift variant)
not provided
GLikely pathogenic
NEU1
(G243R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
NEU1
(V217M)
Single nucleotide variant
(missense variant)
Sialidosis
+1 more
GPathogenic/Likely pathogenic
NEU1
(R214H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEU1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEU1
(S182R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEU1
(V151I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEU1
(G88A)
Single nucleotide variant
(missense variant)
Sialidosis type 2
+2 more
GBenign
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