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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDOB
(N335K)
Single nucleotide variant
(missense variant)
Hereditary fructosuria
+2 more
GPathogenic
ALDOB
(A175D)
Single nucleotide variant
(missense variant)
Hereditary fructosuria
+4 more
GPathogenic
ALDOB
(A150P)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
ALDOB
(N120fs)
Microsatellite
(frameshift variant)
Hereditary fructosuria
+2 more
GPathogenic/Likely pathogenic
ALDOB
(R60*)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic/Likely pathogenic
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