C3494506[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1695465	NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys)	GNAS (Y115C +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +1 more	GConflicting classifications of pathogenicity
Select item 2585419	NM_000516.7(GNAS):c.658del (p.His220fs)	GNAS (H188fs +7 more)	Deletion (frameshift variant +1 more)	Pseudohypoparathyroidism type I A	GLikely pathogenic