ClinVar for Gene (Select 2778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067516	NM_080425.4(GNAS):c.2069-5346_2069-5335del	GNAS	Deletion (intron variant)	not provided	GLikely benign
Select item 3065653	NM_080425.4(GNAS):c.648del (p.Gly215_Tyr216insTer)	GNAS (T154fs)	Deletion (frameshift variant +2 more)	Pseudohypoparathyroidism type 1B	GLikely pathogenic
Select item 3064016	NM_000516.7(GNAS):c.231del (p.Gln78fs)	GNAS (Q19fs +3 more)	Deletion (frameshift variant +3 more)	McCune-Albright syndrome	GLikely pathogenic
Select item 3063879	NM_000516.7(GNAS):c.1100_1132delinsATGTC (p.Val367fs)	GNAS (V1010fs +7 more)	Indel (frameshift variant +1 more)	GNAS-related disorders	GLikely pathogenic
Select item 3063727	NM_080425.4(GNAS):c.1642G>C (p.Ala548Pro)	GNAS (A548P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3061508	NM_000516.7(GNAS):c.257+974C>T	GNAS	Single nucleotide variant (3 prime UTR variant +2 more)	GNAS-related condition	GLikely benign
Select item 3061249	NM_000516.7(GNAS):c.420del (p.Phe140fs)	GNAS (F108fs +7 more)	Deletion (frameshift variant +1 more)	GNAS-related condition	GLikely pathogenic
Select item 3060312	NM_080425.4(GNAS):c.945C>T (p.Pro315=)	GNAS (P253L)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GUncertain significance
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 condition	GLikely benign
Select item 3059336	NM_000516.7(GNAS):c.-18GCC[5]	GNAS	Microsatellite (5 prime UTR variant +1 more)	GNAS-related condition	GBenign
Select item 3059204	NM_080425.4(GNAS):c.723G>T (p.Gly241=)	GNAS (G179V)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GLikely benign
Select item 3059096	NM_080425.4(GNAS):c.1398T>C (p.Asp466=)	GNAS (M404T)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GLikely benign
Select item 3058566	NM_080425.4(GNAS):c.-70T>C	GNAS	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related condition	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 condition	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 condition	GUncertain significance
Select item 3057442	NM_080425.4(GNAS):c.805G>A (p.Ala269Thr)	GNAS (A269T)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition	GUncertain significance
Select item 3056997	NM_080425.4(GNAS):c.1306G>T (p.Ala436Ser)	GNAS (A436S)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition	GUncertain significance
Select item 3054064	NM_000516.7(GNAS):c.747C>T (p.Ala249=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related condition	GLikely benign
Select item 3053546	NM_000516.7(GNAS):c.-8C>T	GNAS	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related condition	GLikely benign
Select item 3053476	NM_080425.4(GNAS):c.1629G>A (p.Pro543=)	GNAS (R481H)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	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 condition	GLikely benign
Select item 3051301	NM_016592.5(GNAS):c.685G>C (p.Ala229Pro)	GNAS-AS1, GNAS (A229P)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related condition	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 condition	GUncertain significance
Select item 3049471	NM_080425.4(GNAS):c.1276G>A (p.Ala426Thr)	GNAS (A426T)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition	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 condition	GUncertain significance
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 condition	GUncertain significance
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 condition	GLikely benign
Select item 3048209	NM_080425.4(GNAS):c.1589C>G (p.Pro530Arg)	GNAS (P468A +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related condition	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 condition	GUncertain significance
Select item 3047197	NM_000516.7(GNAS):c.78C>A (p.Ile26=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related condition	GLikely benign
Select item 3047159	NM_080425.4(GNAS):c.1980C>T (p.Arg660=)	GNAS (A598V)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GLikely benign
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 condition	GLikely benign
Select item 3046907	NM_000516.7(GNAS):c.231G>T (p.Pro77=)	GNAS	Single nucleotide variant (synonymous variant +3 more)	GNAS-related condition	GLikely 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 condition	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 condition	GLikely benign
Select item 3046081	NM_080425.4(GNAS):c.1359C>T (p.Pro453=)	GNAS (P391L)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GUncertain significance
Select item 3045751	NM_016592.5(GNAS):c.505C>T (p.Arg169Ter)	GNAS-AS1, GNAS (R169*)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related condition	GUncertain significance
Select item 3045531	NM_080425.4(GNAS):c.1534C>T (p.Arg512Trp)	GNAS (R512W)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition	GLikely benign
Select item 3045495	NM_080425.4(GNAS):c.1479C>T (p.Asp493=)	GNAS (T431M)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GUncertain significance
Select item 3044781	NM_000516.7(GNAS):c.336C>A (p.Asn112Lys)	GNAS (N112K +7 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related condition	GUncertain significance
Select item 3044414	NM_000516.7(GNAS):c.257+970_257+972del	GNAS	Microsatellite (stop lost +3 more)	Pseudohypoparathyroidism type 1B +1 more	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 condition	GLikely benign
Select item 3043748	NM_000516.7(GNAS):c.780C>T (p.Asp260=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related condition	GLikely benign
Select item 3043625	NM_080425.4(GNAS):c.1725C>T (p.Asp575=)	GNAS (T513I)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GLikely benign
Select item 3043526	NM_080425.4(GNAS):c.1923G>C (p.Leu641=)	GNAS (W579S)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GLikely benign
Select item 3043395	NM_080425.4(GNAS):c.1299_1334del (p.Ala436_Pro447del)	GNAS	Deletion (inframe_deletion +1 more)	GNAS-related condition	GLikely benign
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 condition	GUncertain significance
Select item 3043335	NM_080425.4(GNAS):c.-58G>A	GNAS	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related condition	GLikely benign
Select item 3043151	NM_000516.7(GNAS):c.-3G>A	GNAS	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related condition	GLikely benign
Select item 3042920	NM_080425.4(GNAS):c.1797C>T (p.Arg599=)	GNAS (A537V)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GLikely benign
Select item 3042870	NM_000516.7(GNAS):c.21T>C (p.Ser7=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related condition	GLikely benign
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 condition	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 condition	GLikely benign
Select item 3040294	NM_000516.7(GNAS):c.88C>T (p.Leu30=)	GNAS	Single nucleotide variant (intron variant +1 more)	GNAS-related condition	GLikely benign
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 condition	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 condition	GLikely benign
Select item 3039321	NM_080425.4(GNAS):c.1729A>G (p.Ser577Gly)	GNAS (S577G)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition	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 condition	GLikely benign
Select item 3039194	NM_000516.7(GNAS):c.-18GCC[4]	GNAS	Microsatellite (5 prime UTR variant +1 more)	GNAS-related condition	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 condition	GLikely benign
Select item 3038671	NM_080425.4(GNAS):c.1164G>A (p.Ala388=)	GNAS (R326Q)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GUncertain significance
Select item 3038211	NM_080425.4(GNAS):c.1150G>A (p.Gly384Arg)	GNAS (G384R)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition	GLikely benign
Select item 3037976	NM_080425.4(GNAS):c.1440T>A (p.Ala480=)	GNAS (L418Q)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	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 condition	GLikely benign
Select item 3036350	NM_080425.4(GNAS):c.1654C>T (p.Arg552Trp)	GNAS (R552W)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition	GUncertain significance
Select item 3036240	NM_000516.7(GNAS):c.87G>A (p.Gln29=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related condition	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 condition	GLikely benign
Select item 3035842	NM_080425.4(GNAS):c.1803A>C (p.Arg601=)	GNAS (E539A)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GLikely benign
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 condition	GLikely benign
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 condition	GLikely benign
Select item 3035415	NM_080425.4(GNAS):c.1886A>C (p.Lys629Thr)	GNAS (K567Q +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related condition	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 condition	GUncertain significance
Select item 3035009	NM_080425.4(GNAS):c.1255G>T (p.Asp419Tyr)	GNAS (D419Y)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition	GUncertain significance
Select item 3034764	NM_080425.4(GNAS):c.724C>T (p.Leu242Phe)	GNAS (L242F)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition	GUncertain significance
Select item 3034705	NM_080425.4(GNAS):c.783G>A (p.Ser261=)	GNAS (R199Q)	Single nucleotide variant (intron variant +2 more)	GNAS-related condition	GLikely benign
Select item 3034679	NM_080425.4(GNAS):c.1985A>G (p.Glu662Gly)	GNAS (E662G +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related condition	GUncertain significance
Select item 3034403	NM_000516.7(GNAS):c.60T>C (p.Arg20=)	GNAS	Single nucleotide variant (intron variant +1 more)	GNAS-related condition	GLikely benign
Select item 3034023	NM_080425.4(GNAS):c.1513A>G (p.Thr505Ala)	GNAS (T505A)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition	GLikely benign
Select item 3033931	NM_000516.7(GNAS):c.139+9_139+11del	GNAS	Deletion (intron variant)	GNAS-related condition	GLikely benign
Select item 3033538	NM_080425.4(GNAS):c.1491C>T (p.Pro497=)	GNAS (P435L)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GLikely benign
Select item 3033500	NM_000516.7(GNAS):c.139G>A (p.Gly47Ser)	GNAS (G47S)	Single nucleotide variant (missense variant +1 more)	GNAS-related condition	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 condition	GLikely benign
Select item 3033056	NM_080425.4(GNAS):c.768G>C (p.Ala256=)	GNAS (R194P)	Single nucleotide variant (missense variant +2 more)	GNAS-related condition	GLikely benign
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 condition	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 condition	GLikely benign
Select item 3032296	NM_000516.7(GNAS):c.585+3G>A	GNAS	Single nucleotide variant (intron variant)	GNAS-related condition	GLikely benign
Select item 3031666	NM_000516.7(GNAS):c.645C>T (p.Asp215=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related condition	GUncertain significance
Select item 3031527	NM_080425.4(GNAS):c.1517G>A (p.Arg506Gln)	GNAS (G444R +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related condition	GUncertain significance
Select item 3031307	NM_016592.5(GNAS):c.286T>G (p.Ser96Ala)	GNAS-AS1, GNAS (S96A)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related condition	GUncertain significance
Select item 3031269	NM_000516.7(GNAS):c.30G>A (p.Glu10=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related condition	GLikely benign
Select item 3031178	NM_000516.7(GNAS):c.126C>T (p.Arg42=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related condition	GLikely benign
Select item 3031132	NM_000516.7(GNAS):c.*10C>G	GNAS	Single nucleotide variant (3 prime UTR variant)	GNAS-related condition	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 condition	GLikely benign
Select item 3031053	NM_000516.7(GNAS):c.402G>A (p.Val134=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related condition	GLikely benign
Select item 3030515	NM_080425.4(GNAS):c.1571G>A (p.Arg524His)	GNAS (A462T +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related condition	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 condition	GLikely benign
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 condition	GLikely benign
Select item 3030361	NM_000516.7(GNAS):c.586-4T>G	GNAS	Single nucleotide variant (intron variant)	GNAS-related condition	GLikely benign
Select item 3030081	NM_000516.7(GNAS):c.139+9G>A	GNAS	Single nucleotide variant (intron variant)	GNAS-related condition	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 condition	GUncertain significance

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