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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FUCA1
(W375*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
FUCA1, LOC126805661
(L134F)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
FUCA1
(P10R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FUCA1
(R2W)
Single nucleotide variant
(missense variant)
Fucosidosis
+2 more
GBenign
FUCA1
Single nucleotide variant
not specified
+1 more
GBenign
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