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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALDOB
(A338V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ALDOB
(R331Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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
(E225fs)
Deletion
(frameshift variant)
Hereditary fructosuria
GPathogenic/Likely pathogenic
ALDOB
(I177L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ALDOB
(A175D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
ALDOB
(A150P)
Single nucleotide variant
(missense variant)
See cases
+3 more
GPathogenic/Likely pathogenic
ALDOB
(R149C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALDOB
(R134H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ALDOB
(N120fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ALDOB
Single nucleotide variant
(synonymous variant)
Hereditary fructosuria
GPathogenic/Likely pathogenic
ALDOB
(R60Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ALDOB
(R60*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
ALDOB
(R56C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ALDOB
(R46W)
Single nucleotide variant
(missense variant)
ALDOB-related disorder
+3 more
GUncertain significance
ALDOB
(R43H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ANO5
(G230V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy
+6 more
GPathogenic/Likely pathogenic
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