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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDOB
(A319V)
Single nucleotide variant
(missense variant)
Hereditary fructosuria
+1 more
GUncertain significance
ALDOB
(R304Q)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ALDOB
(A150P)
Single nucleotide variant
(missense variant)
See cases
+3 more
GPathogenic/Likely pathogenic
ALDOB
(N120fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALDOB
(G76S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ALDOB
Single nucleotide variant
Hereditary fructosuria
+1 more
GConflicting classifications of pathogenicity
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