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Links from MedGen

Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEU1
(S180C)
Single nucleotide variant
(missense variant)
Sialidosis type 2
GUncertain significance
Sialidosis type 2
GLikely pathogenic
NEU1
Single nucleotide variant
(stop lost)
Sialidosis type 2
+1 more
GUncertain significance
NEU1
(Y296C)
Single nucleotide variant
(missense variant)
Sialidosis type 2
GLikely pathogenic
NEU1
(P80T)
Single nucleotide variant
(missense variant)
Sialidosis type 2
GLikely pathogenic
NEU1
(P316fs)
Deletion
(frameshift variant)
Sialidosis type 2
GLikely pathogenic
NEU1
(R341*)
Single nucleotide variant
(nonsense)
Sialidosis
+2 more
GPathogenic/Likely pathogenic
NEU1
(Y370C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
NEU1
Single nucleotide variant
(3 prime UTR variant)
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(3 prime UTR variant)
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(5 prime UTR variant)
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEU1
(G248S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEU1
(V276I)
Single nucleotide variant
(missense variant)
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(synonymous variant)
Sialidosis type 2
+1 more
GConflicting classifications of pathogenicity
NEU1
Single nucleotide variant
(synonymous variant)
Sialidosis type 2
+1 more
GConflicting classifications of pathogenicity
NEU1
(R397W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NEU1
(V406E)
Single nucleotide variant
(missense variant)
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(3 prime UTR variant)
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(3 prime UTR variant)
Sialidosis type 2
GUncertain significance
NEU1, SLC44A4
Copy number loss
Sialidosis type 2
GPathogenic
NEU1
(R305H)
Single nucleotide variant
(missense variant)
Sialidosis type 2
+2 more
GUncertain significance
NEU1
Single nucleotide variant
(synonymous variant)
Sialidosis type 2
+1 more
GConflicting classifications of pathogenicity
NEU1
Single nucleotide variant
(synonymous variant)
Sialidosis type 2
+1 more
GConflicting classifications of pathogenicity
NEU1
(W15*)
Single nucleotide variant
(nonsense)
Sialidosis
+2 more
GConflicting classifications of pathogenicity
NEU1
Single nucleotide variant
(synonymous variant)
Sialidosis type 2
+1 more
GConflicting classifications of pathogenicity
NEU1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEU1
(G227R)
Single nucleotide variant
(missense variant)
Sialidosis
+2 more
GPathogenic
NEU1
Single nucleotide variant
Sialidosis type 2
GLikely benign
NEU1
Single nucleotide variant
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(5 prime UTR variant)
Sialidosis type 2
GBenign
NEU1
Single nucleotide variant
(5 prime UTR variant)
Sialidosis type 2
GUncertain significance
NEU1
(A41E)
Single nucleotide variant
(missense variant)
Sialidosis type 2
GUncertain significance
NEU1
(C158W)
Single nucleotide variant
(missense variant)
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
NEU1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEU1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEU1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NEU1
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
NEU1
Single nucleotide variant
(3 prime UTR variant)
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(3 prime UTR variant)
Sialidosis type 2
GLikely benign
NEU1
Single nucleotide variant
(3 prime UTR variant)
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(3 prime UTR variant)
Sialidosis type 2
GUncertain significance
NEU1
Single nucleotide variant
(3 prime UTR variant)
Sialidosis type 2
GBenign
NEU1
Single nucleotide variant
(3 prime UTR variant)
Sialidosis type 2
GUncertain significance
NEU1
(G88A)
Single nucleotide variant
(missense variant)
Sialidosis type 2
+2 more
GBenign
NEU1
(Y390*)
Single nucleotide variant
(nonsense)
Non-immune hydrops fetalis
+1 more
GPathogenic
NEU1
Single nucleotide variant
(splice acceptor variant)
Non-immune hydrops fetalis
+1 more
GPathogenic
NEU1
(W23*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NEU1
(A298V)
Single nucleotide variant
(missense variant)
Sialidosis
+2 more
GLikely pathogenic
NEU1
(R225P)
Single nucleotide variant
(missense variant)
Sialidosis type 2
GPathogenic
NEU1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
NEU1
(W240R)
Single nucleotide variant
(missense variant)
Sialidosis type 2
GPathogenic
NEU1
(P80L)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
NEU1
(W29*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NEU1
(E209fs)
Deletion
(frameshift variant)
Sialidosis type 2
GPathogenic
NEU1
(L363P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NEU1
(F260Y)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
NEU1
(S403fs)
Deletion
(frameshift variant)
Sialidosis type 2
GPathogenic
NEU1
(L91R)
Single nucleotide variant
(missense variant)
Sialidosis type 2
GPathogenic
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