"PreventionGenetics, part of Exact Sciences"[submitter] AND "GNAS"[gen - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2502231	NM_016592.5(GNAS):c.7C>G (p.Arg3Gly)	GNAS, GNAS-AS1 (R3G)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoparathyroidism type 1C +3 more	GConflicting classifications of pathogenicity
Select item 252708	NM_016592.5(GNAS):c.10A>G (p.Arg4Gly)	GNAS, GNAS-AS1 (R4G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 3029991	NM_016592.5(GNAS):c.23A>C (p.Gln8Pro)	GNAS, GNAS-AS1 (Q8P)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3030466	NM_016592.5(GNAS):c.27G>A (p.Gln9=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 2636584	NM_016592.5(GNAS):c.44A>G (p.His15Arg)	GNAS, GNAS-AS1 (H15R)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 1319045	NM_016592.5(GNAS):c.58dup (p.Leu20fs)	GNAS, GNAS-AS1 (L20fs)	Duplication (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2633317	NM_016592.5(GNAS):c.72A>G (p.Ile24Met)	GNAS, GNAS-AS1 (I24M)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3051457	NM_016592.5(GNAS):c.126C>T (p.Leu42=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 2628591	NM_016592.5(GNAS):c.127C>T (p.Arg43Cys)	GNAS, GNAS-AS1 (R43C)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3035607	NM_016592.5(GNAS):c.206A>T (p.His69Leu)	GNAS, GNAS-AS1 (H69L)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3039289	NM_016592.5(GNAS):c.266A>G (p.Glu89Gly)	GNAS, GNAS-AS1 (E89G)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3031307	NM_016592.5(GNAS):c.286T>G (p.Ser96Ala)	GNAS, GNAS-AS1 (S96A)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3029235	NM_016592.5(GNAS):c.303A>G (p.Leu101=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3038893	NM_016592.5(GNAS):c.309C>T (p.Tyr103=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 134488	NM_016592.5(GNAS):c.354_365del (p.Ile119_Glu122del)	GNAS-AS1, GNAS	Deletion (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3049774	NM_016592.5(GNAS):c.366G>C (p.Glu122Asp)	GNAS, GNAS-AS1 (E122D)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3030494	NM_016592.5(GNAS):c.366G>A (p.Glu122=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3029819	NM_016592.5(GNAS):c.369C>A (p.Thr123=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3048537	NM_016592.5(GNAS):c.375C>T (p.Phe125=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 2506601	NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del)	GNAS, GNAS-AS1	Deletion (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2636041	NM_016592.5(GNAS):c.398C>T (p.Pro133Leu)	GNAS, GNAS-AS1 (P133L)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2634122	NM_016592.5(GNAS):c.412G>A (p.Glu138Lys)	GNAS, GNAS-AS1 (E138K)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3043786	NM_016592.5(GNAS):c.417C>A (p.Thr139=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3036067	NM_016592.5(GNAS):c.453G>A (p.Lys151=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3045751	NM_016592.5(GNAS):c.505C>T (p.Arg169Ter)	GNAS, GNAS-AS1 (R169*)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3043388	NM_016592.5(GNAS):c.506G>A (p.Arg169Gln)	GNAS, GNAS-AS1 (R169Q)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3029342	NM_016592.5(GNAS):c.511C>T (p.Pro171Ser)	GNAS, GNAS-AS1 (P171S)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 1284575	NM_016592.5(GNAS):c.537G>A (p.Pro179=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder +8 more	GBenign/Likely benign
Select item 3059708	NM_016592.5(GNAS):c.570A>G (p.Glu190=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3048767	NM_016592.5(GNAS):c.589G>A (p.Glu197Lys)	GNAS, GNAS-AS1 (E197K)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3047129	NM_016592.5(GNAS):c.592G>A (p.Asp198Asn)	GNAS, GNAS-AS1 (D198N)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 2631479	NM_016592.5(GNAS):c.611C>T (p.Pro204Leu)	GNAS, GNAS-AS1 (P204L)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3029386	NM_016592.5(GNAS):c.621G>A (p.Ser207=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 2634429	NM_016592.5(GNAS):c.631A>G (p.Lys211Glu)	GNAS, GNAS-AS1 (K211E)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2634184	NM_016592.5(GNAS):c.634GAG[1] (p.Glu213del)	GNAS, GNAS-AS1 (E213del)	Microsatellite (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3035668	NM_016592.5(GNAS):c.639G>A (p.Glu213=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3030053	NM_016592.5(GNAS):c.642G>T (p.Lys214Asn)	GNAS, GNAS-AS1 (K214N)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3051301	NM_016592.5(GNAS):c.685G>C (p.Ala229Pro)	GNAS, GNAS-AS1 (A229P)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2634213	NM_016592.5(GNAS):c.701C>T (p.Pro234Leu)	GNAS, GNAS-AS1 (P234L)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2631688	NM_016592.5(GNAS):c.713G>T (p.Gly238Val)	GNAS, GNAS-AS1 (G238V)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2630439	NM_016592.5(GNAS):c.720C>G (p.Ile240Met)	GNAS, GNAS-AS1 (I240M)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3032975	NM_016592.5(GNAS):c.729G>A (p.Arg243=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3058566	NM_080425.4(GNAS):c.-70T>C	GNAS	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3043335	NM_080425.4(GNAS):c.-58G>A	GNAS	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3032784	NM_080425.4(GNAS):c.6C>T (p.Gly2=)	GNAS	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GLikely benign
Select item 134495	NM_080425.4(GNAS):c.11G>A (p.Arg4His)	GNAS (R4H)	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GLikely benign
Select item 3031100	NM_080425.4(GNAS):c.48C>G (p.Arg16=)	GNAS	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GLikely benign
Select item 3037572	NM_080425.4(GNAS):c.78C>A (p.Pro26=)	GNAS	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GLikely benign
Select item 489076	NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)	GNAS (A33D)	Single nucleotide variant (5 prime UTR variant +2 more)	Pseudohypoparathyroidism type 1C +9 more	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)	GNAS-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 3029940	NM_080425.4(GNAS):c.158C>G (p.Pro53Arg)	GNAS (P53R)	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3040111	NM_080425.4(GNAS):c.168C>T (p.Asn56=)	GNAS	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GLikely benign
Select item 2635659	NM_080425.4(GNAS):c.184G>A (p.Glu62Lys)	GNAS (E62K)	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3033293	NM_080425.4(GNAS):c.195C>T (p.Gly65=)	GNAS (A3V)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GLikely benign
Select item 770304	NM_080425.4(GNAS):c.195C>A (p.Gly65=)	GNAS (A3E)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2632096	NM_080425.4(GNAS):c.234T>C (p.Phe78=)	GNAS (F16S)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 2634588	NM_080425.4(GNAS):c.265G>A (p.Gly89Arg)	GNAS (G89R)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 2635855	NM_080425.4(GNAS):c.286C>G (p.Pro96Ala)	GNAS (P96A)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 2628693	NM_080425.4(GNAS):c.326C>A (p.Pro109His)	GNAS (P109H +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2634301	NM_080425.4(GNAS):c.355G>C (p.Glu119Gln)	GNAS (E119Q +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2631141	NM_080425.4(GNAS):c.397G>C (p.Ala133Pro)	GNAS (A133P +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2632237	NM_080425.4(GNAS):c.455G>A (p.Gly152Glu)	GNAS (E90K +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3049295	NM_080425.4(GNAS):c.514A>G (p.Arg172Gly)	GNAS (R172G)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 1048823	NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)	GNAS (Q180*)	Single nucleotide variant (synonymous variant +2 more)	Pituitary adenoma 3, multiple types +8 more	GUncertain significance
Select item 2631718	NM_080425.4(GNAS):c.556C>G (p.Pro186Ala)	GNAS (P186A)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 2635939	NM_080425.4(GNAS):c.563G>A (p.Gly188Asp)	GNAS (A126T +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3035414	NM_080425.4(GNAS):c.581T>C (p.Val194Ala)	GNAS (S132P +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2635070	NM_080425.4(GNAS):c.598G>A (p.Glu200Lys)	GNAS (E200K)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3047541	NM_080425.4(GNAS):c.628G>A (p.Ala210Thr)	GNAS (A210T)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3042623	NM_080425.4(GNAS):c.628G>T (p.Ala210Ser)	GNAS (A210S +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GLikely benign
Select item 252519	NM_080425.4(GNAS):c.657C>T (p.Pro219=)	GNAS (P157L)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 134499	NM_080425.4(GNAS):c.661G>A (p.Glu221Lys)	GNAS (E221K)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 2634205	NM_080425.4(GNAS):c.677T>C (p.Phe226Ser)	GNAS (F226S)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 134487	NM_080425.4(GNAS):c.678T>G (p.Phe226Leu)	GNAS (L164W +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2634312	NM_080425.4(GNAS):c.703GAC[1] (p.Asp236del)	GNAS (D236del +1 more)	Microsatellite (inframe_deletion +1 more)	GNAS-related disorder	GUncertain significance
Select item 1803837	NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)	GNAS (D236G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3059204	NM_080425.4(GNAS):c.723G>T (p.Gly241=)	GNAS (G179V)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GLikely benign
Select item 3034764	NM_080425.4(GNAS):c.724C>T (p.Leu242Phe)	GNAS (L242F)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 2631907	NM_080425.4(GNAS):c.745G>C (p.Val249Leu)	GNAS (K186N +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 1803875	NM_080425.4(GNAS):c.748G>A (p.Asp250Asn)	GNAS (D250N)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder +4 more	GUncertain significance
Select item 3033056	NM_080425.4(GNAS):c.768G>C (p.Ala256=)	GNAS (R194P)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GLikely benign
Select item 3041008	NM_080425.4(GNAS):c.774C>G (p.Val258=)	GNAS (S196W)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GLikely benign
Select item 3034705	NM_080425.4(GNAS):c.783G>A (p.Ser261=)	GNAS (R199Q)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GLikely benign
Select item 3057442	NM_080425.4(GNAS):c.805G>A (p.Ala269Thr)	GNAS (A269T)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 2634047	NM_080425.4(GNAS):c.816G>A (p.Ala272=)	GNAS (R210H)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3040250	NM_080425.4(GNAS):c.854C>T (p.Ser285Phe)	GNAS (P223S +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2628952	NM_080425.4(GNAS):c.888G>T (p.Thr296=)	GNAS (R234L)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 1284745	NM_080425.4(GNAS):c.897C>A (p.Ser299Arg)	GNAS (A237D +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 2636759	NM_080425.4(GNAS):c.925T>C (p.Phe309Leu)	GNAS (F309L)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 2760187	NM_080425.4(GNAS):c.927C>T (p.Phe309=)	GNAS (S247L)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder +1 more	GBenign/Likely benign
Select item 3046671	NM_080425.4(GNAS):c.939C>G (p.Ser313Arg)	GNAS (A251G +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3060312	NM_080425.4(GNAS):c.945C>T (p.Pro315=)	GNAS (P253L)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 134492	NM_080425.4(GNAS):c.988A>G (p.Ile330Val)	GNAS (I330V)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder +1 more	GUncertain significance
Select item 3046512	NM_080425.4(GNAS):c.1064A>G (p.Glu355Gly)	GNAS (E355G +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GLikely benign
Select item 134494	NM_080425.4(GNAS):c.1135G>C (p.Gly379Arg)	GNAS (G379R)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GLikely benign
Select item 3038211	NM_080425.4(GNAS):c.1150G>A (p.Gly384Arg)	GNAS (G384R)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GLikely benign
Select item 3057970	NM_080425.4(GNAS):c.1163C>A (p.Ala388Glu)	GNAS (A388E)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3038671	NM_080425.4(GNAS):c.1164G>A (p.Ala388=)	GNAS (R326Q)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3057851	NM_080425.4(GNAS):c.1199C>A (p.Ala400Asp)	GNAS (A400D +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 134476	NM_080425.4(GNAS):c.1233_1259del (p.Thr415_Gly423del)	GNAS	Deletion (inframe_deletion +1 more)	GNAS-related disorder +1 more	GBenign/Likely benign

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