C0033835[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 5

	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 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

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