"GeneDx"[submitter] AND "GNAS"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 171

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 1282105	NM_016592.5(GNAS):c.-295C>G	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1280334	NM_016592.5(GNAS):c.-52A>G	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1319045	NM_016592.5(GNAS):c.58dup (p.Leu20fs)	GNAS, GNAS-AS1 (L20fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2507307	NM_016592.5(GNAS):c.192_195del (p.Phe64fs)	GNAS, GNAS-AS1 (F64fs)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1700713	NM_016592.5(GNAS):c.266AGG[1] (p.Glu90del)	GNAS, GNAS-AS1 (E90del)	Microsatellite (5 prime UTR variant)	not provided	GUncertain significance
Select item 2446235	NM_016592.5(GNAS):c.298T>C (p.Cys100Arg)	GNAS, GNAS-AS1 (C100R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2662210	NM_016592.5(GNAS):c.354_383del (p.Ile119_Glu128del)	GNAS, GNAS-AS1	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 1319015	NM_016592.5(GNAS):c.355dup (p.Ile119fs)	GNAS, GNAS-AS1 (I119fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1320375	NM_016592.5(GNAS):c.356T>G (p.Ile119Ser)	GNAS, GNAS-AS1 (I119S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 430328	NM_016592.5(GNAS):c.367A>G (p.Thr123Ala)	GNAS, GNAS-AS1 (T123A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2506601	NM_016592.5(GNAS):c.387_410del (p.Ala132_Thr139del)	GNAS, GNAS-AS1	Deletion (5 prime UTR variant)	not provided	GUncertain significance
Select item 1320781	NM_016592.5(GNAS):c.410C>T (p.Pro137Leu)	GNAS, GNAS-AS1 (P137L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1706317	NM_016592.5(GNAS):c.470_474dup (p.Leu159fs)	GNAS, GNAS-AS1 (L159fs)	Duplication (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1328087	NM_016592.5(GNAS):c.514G>A (p.Asp172Asn)	GNAS, GNAS-AS1 (D172N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3361567	NM_016592.5(GNAS):c.536C>G (p.Pro179Arg)	GNAS, GNAS-AS1 (P179R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2500392	NM_016592.5(GNAS):c.616G>C (p.Glu206Gln)	GNAS, GNAS-AS1 (E206Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1198859	NM_016592.5(GNAS):c.689C>T (p.Ser230Phe)	GNAS, GNAS-AS1 (S230F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1259094	NM_016592.5(GNAS):c.*42+21C>T	GNAS, GNAS-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186009	NM_016592.5(GNAS):c.*42+26G>A	GNAS, GNAS-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273639	NM_016592.5(GNAS):c.*42+54A>G	GNAS, GNAS-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281366	NM_080425.4(GNAS):c.-106T>G	GNAS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2431006	NM_080425.4(GNAS):c.17G>A (p.Cys6Tyr)	GNAS (C6Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
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 3033293	NM_080425.4(GNAS):c.195C>T (p.Gly65=)	GNAS (A3V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2577736	NM_080425.4(GNAS):c.200C>T (p.Ala67Val)	GNAS (A67V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318805	NM_080425.4(GNAS):c.207A>G (p.Gly69=)	GNAS (D7G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1722831	NM_080425.4(GNAS):c.245del (p.Asn82fs)	GNAS (N82fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2662170	NM_080425.4(GNAS):c.338G>C (p.Gly113Ala)	GNAS (A51P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3378034	NM_080425.4(GNAS):c.424G>T (p.Gly142Ter)	GNAS (G142*)	Single nucleotide variant (synonymous variant +2 more)	not provided	GPathogenic
Select item 3360107	NM_080425.4(GNAS):c.455del (p.Gly152fs)	GNAS (E90fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 431104	NM_080425.4(GNAS):c.475G>A (p.Glu159Lys)	GNAS (E159K)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 134478	NM_080425.4(GNAS):c.500A>G (p.Asp167Gly)	GNAS (T105A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 780612	NM_080425.4(GNAS):c.525T>C (p.Ser175=)	GNAS (V113A)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 134484	NM_080425.4(GNAS):c.628G>C (p.Ala210Pro)	GNAS (R147S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GLikely benign
Select item 1695606	NM_080425.4(GNAS):c.730C>T (p.Arg244Ter)	GNAS (R244*)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2446527	NM_080425.4(GNAS):c.780_786del (p.Ser261fs)	GNAS (P198fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3361225	NM_080425.4(GNAS):c.809C>T (p.Ala270Val)	GNAS (A270V +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 3370958	NM_080425.4(GNAS):c.849C>A (p.Ser283Arg)	GNAS (A221D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 503518	NM_080425.4(GNAS):c.890del (p.Gly297fs)	GNAS (A235fs +1 more)	Deletion (frameshift variant +1 more)	Progressive osseous heteroplasia +3 more	GUncertain significance
Select item 391701	NM_080425.4(GNAS):c.919C>G (p.Pro307Ala)	GNAS (D244E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360678	NM_080425.4(GNAS):c.945del (p.Ala316fs)	GNAS (A316fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3253270	NM_080425.4(GNAS):c.986C>A (p.Pro329Gln)	GNAS (P329Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369285	NM_080425.4(GNAS):c.1072G>A (p.Ala358Thr)	GNAS (A358T)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 3364672	NM_080425.4(GNAS):c.1074A>G (p.Ala358=)	GNAS (Q296R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1327849	NM_080425.4(GNAS):c.1146C>T (p.Ala382=)	GNAS (P320L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1800670	NM_080425.4(GNAS):c.1190C>A (p.Ala397Glu)	GNAS (A397E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3361036	NM_080425.4(GNAS):c.1211C>G (p.Ser404Cys)	GNAS (P342A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1315968	NM_080425.4(GNAS):c.1275C>T (p.Phe425=)	GNAS (S363L)	Single nucleotide variant (genic upstream transcript variant +3 more)	not provided +8 more	GUncertain significance
Select item 134479	NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp)	GNAS (P374T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GBenign
Select item 1708843	NM_080425.4(GNAS):c.1340C>T (p.Pro447Leu)	GNAS (P447L)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1206302	NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp)	GNAS	Insertion (intron variant)	not provided	GBenign
Select item 134480	NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)	GNAS (L397V +1 more)	Single nucleotide variant (missense variant +2 more)	McCune-Albright syndrome +8 more	GLikely benign
Select item 1203026	NM_080425.4(GNAS):c.1395A>C (p.Pro465=)	GNAS (Q403P)	Single nucleotide variant (missense variant +2 more)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1175414	NM_080425.4(GNAS):c.1399G>T (p.Ala467Ser)	GNAS (A467S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1802120	NM_080425.4(GNAS):c.1431_1456del (p.Ala478fs)	GNAS (A478fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2430870	NM_080425.4(GNAS):c.1463C>G (p.Ala488Gly)	GNAS (A488G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2577583	NM_080425.4(GNAS):c.1686C>T (p.Arg562=)	GNAS (A500V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1707906	NM_080425.4(GNAS):c.1738G>A (p.Glu580Lys)	GNAS (E580K)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 134493	NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)	GNAS (R600G)	Single nucleotide variant (synonymous variant +2 more)	McCune-Albright syndrome +8 more	GBenign/Likely benign
Select item 1247641	NM_080425.4(GNAS):c.2068+89C>G	GNAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300272	NM_080425.4(GNAS):c.2068+160_2068+161insTT	GNAS	Insertion (intron variant)	not provided	GBenign
Select item 1272285	NM_080425.4(GNAS):c.2068+169A>T	GNAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254538	NM_080425.4(GNAS):c.2068+180A>T	GNAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320759	NM_080425.4(GNAS):c.2068+219A>G	GNAS	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1284074	NM_080425.4(GNAS):c.2069-4371GCC[7]	GNAS, LOC130066267	Microsatellite (intron variant)	not provided	GBenign
Select item 1187940	NM_080425.4(GNAS):c.2069-4340CCT[6]	GNAS, LOC130066267	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1289230	NM_080425.4(GNAS):c.2069-4321C>T	GNAS, LOC130066267	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202537	NM_080425.4(GNAS):c.2069-4200A>G	GNAS, LOC130066268	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1341633	NM_000516.7(GNAS):c.-18_-16GCC[9]	GNAS	Microsatellite (inframe_insertion +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1208661	NM_000516.7(GNAS):c.-18GCC[8] (p.Met1_Gly2insAlaAla)	GNAS	Microsatellite (inframe_insertion +1 more)	not provided	GBenign/Likely benign
Select item 426629	NM_000516.7(GNAS):c.-4_2del (p.Met1del)	GNAS (M1del)	Deletion (inframe_deletion +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 419339	NM_000516.7(GNAS):c.1A>T (p.Met1Leu)	GNAS (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 15927	NM_000516.7(GNAS):c.1A>G (p.Met1Val)	GNAS (M1V)	Single nucleotide variant (missense variant +2 more)	Pseudohypoparathyroidism +8 more	GPathogenic/Likely pathogenic
Select item 419690	NM_000516.7(GNAS):c.8G>C (p.Cys3Ser)	GNAS (C3S)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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 374113	NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	GNAS (Q29*)	Single nucleotide variant (nonsense +1 more)	Progressive osseous heteroplasia +16 more	GPathogenic
Select item 1217738	NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)	GNAS (Q31*)	Single nucleotide variant (nonsense +1 more)	not provided +8 more	GPathogenic
Select item 2581804	NM_000516.7(GNAS):c.97G>A (p.Asp33Asn)	GNAS (D33N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1205532	NM_000516.7(GNAS):c.101A>C (p.Lys34Thr)	GNAS (K34T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3343851	NM_000516.7(GNAS):c.113G>C (p.Arg38Pro)	GNAS (R38P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 379730	NM_000516.7(GNAS):c.125G>A (p.Arg42His)	GNAS (R42H)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 625528	NM_000516.7(GNAS):c.127CTG[5] (p.Leu46dup)	GNAS	Microsatellite (inframe_insertion +1 more)	not provided	GPathogenic
Select item 1216872	NM_000516.7(GNAS):c.139+2T>C	GNAS	Single nucleotide variant (intron variant +1 more)	not provided	GPathogenic
Select item 1285839	NM_000516.7(GNAS):c.140-247_140-243del	GNAS	Deletion (intron variant)	not provided	GBenign
Select item 1221341	NM_000516.7(GNAS):c.140-150G>A	GNAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197532	NM_000516.7(GNAS):c.213-268C>T	GNAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 421221	NM_000516.7(GNAS):c.257+1G>T	GNAS	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 1247683	NM_000516.7(GNAS):c.257+159A>G	GNAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247589	NM_000516.7(GNAS):c.258-138A>T	GNAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204234	NM_000516.7(GNAS):c.304G>A (p.Ala102Thr)	GNAS (A102T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 430510	NM_000516.7(GNAS):c.305C>T (p.Ala102Val)	GNAS (A102V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1338303	NM_000516.7(GNAS):c.314C>T (p.Thr105Ile)	GNAS (T105I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 392186	NM_000516.7(GNAS):c.319G>C (p.Val107Leu)	GNAS (V107L +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1702771	NM_000516.7(GNAS):c.325G>A (p.Ala109Thr)	GNAS (A109T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 15953	NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)	GNAS (P115L +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism +1 more	GPathogenic/Likely pathogenic
Select item 1695465	NM_000516.7(GNAS):c.389A>G (p.Tyr130Cys)	GNAS (Y115C +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +1 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2