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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALNT3
Single nucleotide variant
(splice donor variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
GPathogenic
GALNT3
(R169*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic