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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HEXB
(V39fs)
Deletion
(frameshift variant +1 more)
Sandhoff disease
+1 more
GPathogenic
HEXB
(L62S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
HEXB
(L72F)
Single nucleotide variant
(missense variant +1 more)
HEXB-related condition
+3 more
GBenign/Likely benign
HEXB
(Y104C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HEXB
(K121R)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
HEXB
(R170*)
Single nucleotide variant
(nonsense +1 more)
Sandhoff disease
+1 more
GPathogenic/Likely pathogenic
HEXB
(D196A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HEXB
(I207V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
HEXB
Single nucleotide variant
(intron variant)
Sandhoff disease
+1 more
GConflicting classifications of pathogenicity
HEXB
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
HEXB
(Y266C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HEXB
(A278V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HEXB
(G299R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HEXB
Deletion
(intron variant)
not specified
+1 more
GBenign
HEXB
(S116fs +1 more)
Deletion
(frameshift variant)
Sandhoff disease
+1 more
GPathogenic/Likely pathogenic
HEXB
Deletion
(splice donor variant)
Sandhoff disease
+1 more
GConflicting classifications of pathogenicity
HEXB
(K189fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
HEXB
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
HEXB
(P417L +1 more)
Single nucleotide variant
(missense variant)
HEXB-related condition
+3 more
GPathogenic/Likely pathogenic
HEXB
(I420V +1 more)
Single nucleotide variant
(missense variant)
Sandhoff disease
+2 more
GBenign
HEXB
(D459Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HEXB
(V493G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HEXB
(E286fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
HEXB
(R512fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HEXB
(C534F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HEXB
Duplication
(splice acceptor variant)
Sandhoff disease
+1 more
GUncertain significance
HEXB
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
HEXB
(A543T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign; other
HEXB
(G549R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HEXB
(C551Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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