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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDOB
(A338V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALDOB
(N335K)
Single nucleotide variant
(missense variant)
ALDOB-related condition
+2 more
GPathogenic
ALDOB
(L289fs)
Deletion
(frameshift variant)
Hereditary fructosuria
+1 more
GPathogenic
ALDOB
(Y204*)
Single nucleotide variant
(nonsense)
Hereditary fructosuria
GPathogenic
ALDOB
(A175D)
Single nucleotide variant
(missense variant)
ALDOB-related condition
+4 more
GPathogenic
ALDOB
(A150P)
Single nucleotide variant
(missense variant)
ALDOB-related condition
+3 more
GPathogenic/Likely pathogenic
ALDOB
(N120fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
ALDOB
Single nucleotide variant
(splice donor variant)
Hereditary fructosuria
GPathogenic
ALDOB
(R60*)
Single nucleotide variant
(nonsense)
ALDOB-related condition
+4 more
GPathogenic/Likely pathogenic
ANO5
(G230V)
Single nucleotide variant
(missense variant)
ANO5-related condition
+7 more
GPathogenic/Likely pathogenic
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