"Baylor Genetics"[submitter] AND "GNAS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1034212	NM_080425.4(GNAS):c.253T>C (p.Phe85Leu)	GNAS (F85L)	Single nucleotide variant (synonymous variant +2 more)	Pseudopseudohypoparathyroidism	GUncertain significance
Select item 209158	NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	GNAS (Q12*)	Single nucleotide variant (nonsense +1 more)	Pseudopseudohypoparathyroidism +11 more	GPathogenic
Select item 2671935	NM_000516.7(GNAS):c.320T>G (p.Val107Gly)	GNAS (V107G +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudopseudohypoparathyroidism	GLikely pathogenic
Select item 1028314	NM_000516.7(GNAS):c.432+1G>T	GNAS	Single nucleotide variant (splice donor variant)	McCune-Albright syndrome	GPathogenic
Select item 446491	NM_000516.7(GNAS):c.432+1G>A	GNAS	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2582341	NM_000516.7(GNAS):c.847C>T (p.Arg283Cys)	GNAS (R224C +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudopseudohypoparathyroidism	GUncertain significance
Select item 1033065	NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs)	GNAS (N357fs +5 more)	Deletion (frameshift variant +1 more)	Pseudohypoparathyroidism +1 more	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic

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