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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HEXA
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HEXA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
HEXA
(R499H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GPathogenic
HEXA
(A479T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
HEXA
(N466S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HEXA
(I436V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
HEXA
(Y427fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
+3 more
GPathogenic
HEXA
(N399D +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
HEXA
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
HEXA
Single nucleotide variant
(splice donor variant)
HEXA-related condition
+3 more
GPathogenic/Likely pathogenic
HEXA
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
HEXA
(G269S +1 more)
Single nucleotide variant
(missense variant +1 more)
HEXA-related condition
+3 more
GPathogenic/Likely pathogenic
HEXA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
HEXA
(R249W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity; other
HEXA
(R247W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign; other
HEXA
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
HEXA
(H179R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HEXA
(R178H +1 more)
Single nucleotide variant
(missense variant +1 more)
HEXA-related condition
+4 more
GPathogenic/Likely pathogenic
HEXA
(R166H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
HEXA
(R137* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
HEXA
(V100F +1 more)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease
+1 more
GUncertain significance
HEXA
(A13V)
Single nucleotide variant
(missense variant +1 more)
Tay-Sachs disease
+1 more
GUncertain significance
HEXA
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
HEXA
(M1T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
HEXA
(M1L)
Single nucleotide variant
(missense variant +2 more)
Tay-Sachs disease
+1 more
GPathogenic
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