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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALNT3
(R438C)
Single nucleotide variant
(missense variant)
Tumoral calcinosis, hyperphosphatemic, familial, 1
+1 more
GPathogenic/Likely pathogenic
GALNT3
(Y298fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic