ClinVar for MedGen (Select 3681) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987921	NM_000516.5:c.(?_-424)_(257_?)dup	GNAS	Duplication	Cushing syndrome +7 more	GPathogenic
Select item 417936	NM_080425.4(GNAS):c.1455C>A (p.Ala485=)	GNAS (P423H)	Single nucleotide variant (missense variant +2 more)	not provided +8 more	GBenign/Likely benign
Select item 417934	NM_080425.4(GNAS):c.1200C>A (p.Ala400=)	GNAS (P338Q)	Single nucleotide variant (missense variant +2 more)	Cushing syndrome +7 more	GUncertain significance
Select item 374113	NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	GNAS (Q29*)	Single nucleotide variant (intron variant +1 more)	Cushing syndrome +16 more	GPathogenic
Select item 15937	NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)	GNAS (R201S +5 more)	Single nucleotide variant (missense variant +1 more)	Polyostotic fibrous dysplasia, somatic, mosaic +2 more	GPathogenic
Select item 15934	NM_000516.7(GNAS):c.602G>A (p.Arg201His)	GNAS (R201H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 15933	NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)	GNAS (R201C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 15927	NM_000516.7(GNAS):c.1A>G (p.Met1Val)	GNAS (M1V)	Single nucleotide variant (missense variant +2 more)	Pituitary adenoma 3, multiple types +8 more	GPathogenic/Likely pathogenic

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