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

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 520911	NM_016592.5(GNAS):c.263dup (p.His88fs)	GNAS-AS1, GNAS (H88fs)	Duplication (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 520563	NM_016592.5(GNAS):c.409C>T (p.Pro137Ser)	GNAS, GNAS-AS1 (P137S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1205909	NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)	GNAS (E52K)	Single nucleotide variant (5 prime UTR variant +2 more)	Pseudohypoparathyroidism type 1C +8 more	GConflicting classifications of pathogenicity
Select item 2355759	NM_080425.4(GNAS):c.570T>C (p.Gly190=)	GNAS (V128A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258295	NM_080425.4(GNAS):c.607C>G (p.Gln203Glu)	GNAS (Q203E)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2259997	NM_080425.4(GNAS):c.757A>G (p.Ser253Gly)	GNAS (S253G)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2253714	NM_080425.4(GNAS):c.917G>A (p.Gly306Glu)	GNAS (G306E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2282455	NM_080425.4(GNAS):c.969C>T (p.Val323=)	GNAS (S261L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2230853	NM_080425.4(GNAS):c.1201G>A (p.Asp401Asn)	GNAS (D401N)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1706780	NM_080425.4(GNAS):c.1267G>C (p.Gly423Arg)	GNAS (G423R)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1206083	NM_080425.4(GNAS):c.1343A>C (p.Asp448Ala)	GNAS (D448A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2381279	NM_080425.4(GNAS):c.1473G>A (p.Ala491=)	GNAS (R429H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2355015	NM_080425.4(GNAS):c.1591C>T (p.Pro531Ser)	GNAS (P531S)	Single nucleotide variant (synonymous variant +2 more)	Duane retraction syndrome +1 more	GUncertain significance
Select item 2261667	NM_080425.4(GNAS):c.1663T>C (p.Ser555Pro)	GNAS (S555P)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2223471	NM_080425.4(GNAS):c.1700A>G (p.Glu567Gly)	GNAS (E567G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2230145	NM_080425.4(GNAS):c.1826G>A (p.Arg609His)	GNAS (A547T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 986031	NM_000516.7(GNAS):c.103C>T (p.Gln35Ter)	GNAS (Q35*)	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic
Select item 2236363	NM_000516.7(GNAS):c.140-1G>C	GNAS	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 3100565	NM_000516.7(GNAS):c.152C>G (p.Ser51Cys)	GNAS (S51C +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 208702	NM_000516.7(GNAS):c.163A>G (p.Thr55Ala)	GNAS (T55A +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	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 2271285	NM_000516.7(GNAS):c.484T>C (p.Cys162Arg)	GNAS (C148R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1629295	NM_000516.7(GNAS):c.530+11G>A	GNAS	Single nucleotide variant (intron variant)	Inborn genetic diseases +9 more	GLikely benign
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
Select item 15934	NM_000516.7(GNAS):c.602G>A (p.Arg201His)	GNAS (R201H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic OOncogenic
Select item 3281763	NM_000516.7(GNAS):c.660-1G>A	GNAS	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 2271044	NM_000516.7(GNAS):c.670G>T (p.Val224Leu)	GNAS (V209L +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3100566	NM_000516.7(GNAS):c.716A>G (p.Asn239Ser)	GNAS (N225S +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 521825	NM_000516.7(GNAS):c.742G>A (p.Val248Met)	GNAS (V248M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely 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 521505	NM_000516.7(GNAS):c.793C>T (p.Arg265Cys)	GNAS (R265C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2542512	NM_000516.7(GNAS):c.920A>T (p.Lys307Met)	GNAS (K293M +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 34