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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GNAS
(M1I)
Single nucleotide variant
(missense variant +2 more)
Pseudohypoparathyroidism type I A
GPathogenic
GNAS
(H134R +5 more)
Single nucleotide variant
(missense variant +1 more)
Pseudohypoparathyroidism type I A
+1 more
GLikely pathogenic