C3494506[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1705601	NM_000516.7(GNAS):c.284T>A (p.Ile95Asn)	GNAS (I36N +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GUncertain significance
Select item 871093	NM_000516.7(GNAS):c.348dup (p.Val117fs)	GNAS (V58fs +5 more)	Duplication (frameshift variant +1 more)	not provided +8 more	GPathogenic
Select item 1705346	NM_000516.7(GNAS):c.415_418del (p.Asp139fs)	GNAS (D124fs +5 more)	Deletion (frameshift variant +1 more)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 2572462	NM_000516.7(GNAS):c.433G>T (p.Glu145Ter)	GNAS (E113* +7 more)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 2572583	NM_000516.7(GNAS):c.585+1G>A	GNAS	Single nucleotide variant (splice donor variant)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 816910	NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	GNAS (R172C +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism +11 more	GPathogenic/Likely pathogenic
Select item 15941	NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)	GNAS (R258W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 1526066	NM_000516.7(GNAS):c.950G>A (p.Arg317His)	GNAS (R258H +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GUncertain significance