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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS
Single nucleotide variant
(splice donor variant)
Inborn genetic diseases
+2 more
GPathogenic
GNAS
(D130fs +5 more)
Deletion
(frameshift variant +1 more)
Pseudohypoparathyroidism type 1C
+13 more
GConflicting classifications of pathogenicity