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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MANBA
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
MANBA
(T701M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MANBA
Single nucleotide variant
(intron variant)
Beta-D-mannosidosis
+2 more
GBenign
MANBA
(W541*)
Single nucleotide variant
(nonsense)
Beta-D-mannosidosis
+2 more
GPathogenic/Likely pathogenic
MANBA
(S525G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MANBA
(Y477C)
Single nucleotide variant
(missense variant)
Beta-D-mannosidosis
+1 more
GUncertain significance
MANBA
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MANBA
Single nucleotide variant
(synonymous variant)
Beta-D-mannosidosis
+1 more
GConflicting classifications of pathogenicity
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