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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
B3GLCT
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic
B3GLCT
(V458I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance