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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS, GNAS-AS1
(R12*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Pseudopseudohypoparathyroidism
GLikely pathogenic
GNAS
(Y115C +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
+1 more
GConflicting classifications of pathogenicity
GNAS
(H188fs +7 more)
Deletion
(frameshift variant +1 more)
Pseudohypoparathyroidism type I A
GLikely pathogenic
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