"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931706	NM_016592.5(GNAS):c.362C>T (p.Ser121Phe)	GNAS, GNAS-AS1 (S121F)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1B	GUncertain significance
Select item 931358	NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)	GNAS (A426P)	Single nucleotide variant (genic upstream transcript variant +3 more)	Pseudohypoparathyroidism type 1B +8 more	GConflicting classifications of pathogenicity
Select item 930718	NM_080425.4(GNAS):c.1323C>T (p.Pro441=)	GNAS (P379L)	Single nucleotide variant (missense variant +2 more)	Pseudohypoparathyroidism type 1B +7 more	GUncertain significance
Select item 374113	NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	GNAS (Q29*)	Single nucleotide variant (nonsense +1 more)	Progressive osseous heteroplasia +16 more	GPathogenic
Select item 134473	NM_000516.7(GNAS):c.217G>A (p.Gly73Ser)	GNAS (G73S +2 more)	Single nucleotide variant (missense variant +3 more)	Pseudohypoparathyroidism type 1B +1 more	GUncertain significance
Select item 930857	NM_000516.7(GNAS):c.296del (p.Leu99fs)	GNAS (L84fs +5 more)	Deletion (frameshift variant +1 more)	Pseudohypoparathyroidism type 1B	GPathogenic
Select item 15938	NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	GNAS (D130fs +5 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity

ClinVar