ClinVar for Gene (Select 2778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373471	NM_000516.7(GNAS):c.445_446del (p.His149fs)	GNAS (H117fs +7 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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 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 3366286	NM_000516.7(GNAS):c.432+5G>A	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 3365755	NM_000516.7(GNAS):c.854T>C (p.Ile285Thr)	GNAS (I226T +7 more)	Single nucleotide variant (missense variant +1 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 3361782	NM_000516.7(GNAS):c.1117C>T (p.Arg373Cys)	GNAS (R1001C +7 more)	Single nucleotide variant (missense 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 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 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 3360678	NM_080425.4(GNAS):c.945del (p.Ala316fs)	GNAS (A316fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
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 3359296	NM_000516.7(GNAS):c.175C>G (p.Gln59Glu)	GNAS (Q27E +2 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3358794	NM_080425.4(GNAS):c.1511C>T (p.Ala504Val)	GNAS (A504V +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3358756	NM_080425.4(GNAS):c.426A>G (p.Gly142=)	GNAS (E80G)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3358595	NM_080425.4(GNAS):c.1895G>A (p.Arg632His)	GNAS (A570T +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3358517	NM_080425.4(GNAS):c.1893G>A (p.Ser631=)	GNAS (R569H)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3358445	NM_000516.7(GNAS):c.-7C>A	GNAS	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3358205	NM_000516.7(GNAS):c.978C>T (p.Pro326=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3358194	NM_080425.4(GNAS):c.1112G>A (p.Gly371Glu)	GNAS (E309K +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3358126	NM_080425.4(GNAS):c.178C>A (p.Pro60Thr)	GNAS (P60T)	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3358065	NM_080425.4(GNAS):c.2002C>T (p.Leu668Phe)	GNAS (L668F)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3357972	NM_080425.4(GNAS):c.10C>T (p.Arg4Cys)	GNAS (R4C)	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3357899	NM_080425.4(GNAS):c.2069-3905CCG[10]	GNAS	Microsatellite (intron variant)	GNAS-related disorder	GLikely benign
Select item 3357867	NM_016592.5(GNAS):c.479C>T (p.Thr160Ile)	GNAS, GNAS-AS1 (T160I)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3357812	NM_016592.5(GNAS):c.337_348del (p.111TESE[1])	GNAS, GNAS-AS1	Deletion (5 prime UTR variant)	GNAS-related disorder	GUncertain significance
Select item 3357655	NM_080425.4(GNAS):c.1167T>A (p.Asp389Glu)	GNAS (D389E +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3357591	NM_000516.7(GNAS):c.285C>T (p.Ile95=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3357514	NM_016592.5(GNAS):c.*4A>T	GNAS, GNAS-AS1 (E2V)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3357442	NM_080425.4(GNAS):c.970A>C (p.Asn324His)	GNAS (N324H)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3357319	NM_080425.4(GNAS):c.1876C>A (p.Pro626Thr)	GNAS (P626T)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3357311	NM_080425.4(GNAS):c.163C>T (p.His55Tyr)	GNAS (H55Y)	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3357289	NM_000516.7(GNAS):c.840-5T>C	GNAS	Single nucleotide variant (intron variant)	GNAS-related disorder	GLikely benign
Select item 3357101	NM_016592.5(GNAS):c.3_5delinsAAT (p.Met1_Asp2delinsIleIle)	GNAS, GNAS-AS1	Indel (5 prime UTR variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3357012	NM_016592.5(GNAS):c.315A>G (p.Glu105=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3356969	NM_080425.4(GNAS):c.550C>G (p.Leu184Val)	GNAS (L184V)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3356966	NM_080425.4(GNAS):c.1163C>G (p.Ala388Gly)	GNAS (A388G +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3356824	NM_080425.4(GNAS):c.1445C>T (p.Thr482Ile)	GNAS (P420S +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3356820	NM_080425.4(GNAS):c.32A>G (p.Asn11Ser)	GNAS (N11S)	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3356783	NM_080425.4(GNAS):c.2008G>A (p.Asp670Asn)	GNAS (D670N)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3356781	NM_000516.7(GNAS):c.313-21_313-20insA	GNAS	Insertion (intron variant)	GNAS-related disorder	GLikely benign
Select item 3356760	NM_080425.4(GNAS):c.1042C>A (p.Arg348=)	GNAS (S285R)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3356487	NM_000516.7(GNAS):c.-5C>T	GNAS	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3356414	NM_080425.4(GNAS):c.1289A>G (p.Asp430Gly)	GNAS (D430G +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3356377	NM_016592.5(GNAS):c.536_543dup (p.Thr182fs)	GNAS, GNAS-AS1 (T182fs)	Duplication (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3356376	NM_080425.4(GNAS):c.78C>G (p.Pro26=)	GNAS	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GLikely benign
Select item 3356373	NM_000516.7(GNAS):c.53C>T (p.Ala18Val)	GNAS (A18V)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3356346	NM_080425.4(GNAS):c.1473G>T (p.Ala491=)	GNAS (R429L)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3356284	NM_080425.4(GNAS):c.1622C>G (p.Pro541Arg)	GNAS (L479V +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3356266	NM_000516.7(GNAS):c.1155C>T (p.Arg385=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3356217	NM_080425.4(GNAS):c.1864C>G (p.Arg622Gly)	GNAS (R622G)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3355904	NM_000516.7(GNAS):c.1104C>T (p.Asp368=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3355872	NM_016592.5(GNAS):c.6T>C (p.Asp2=)	GNAS-AS1, GNAS	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3355811	NM_000516.7(GNAS):c.1170G>A (p.Gln390=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3355795	NM_080425.4(GNAS):c.796C>T (p.Leu266Phe)	GNAS (L266F)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3355757	NM_080425.4(GNAS):c.2042T>C (p.Met681Thr)	GNAS (C619R +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3355592	NM_080425.4(GNAS):c.699T>A (p.Phe233Leu)	GNAS (F233L +1 more)	Single nucleotide variant (nonsense +2 more)	GNAS-related disorder	GUncertain significance
Select item 3355577	NM_080425.4(GNAS):c.2000del (p.Lys667fs)	GNAS (K667fs +1 more)	Deletion (frameshift variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3355554	NM_016592.5(GNAS):c.466G>A (p.Gly156Ser)	GNAS, GNAS-AS1 (G156S)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3355503	NM_080425.4(GNAS):c.1932G>A (p.Lys644=)	GNAS (S582N)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3355486	NM_016592.5(GNAS):c.618G>A (p.Glu206=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3355241	NM_000516.7(GNAS):c.111_112delinsTA (p.Tyr37_Arg38=)	GNAS	Indel (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3355236	NM_080425.4(GNAS):c.1035G>C (p.Lys345Asn)	GNAS (K345N +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3355198	NM_080425.4(GNAS):c.1971C>G (p.Ala657=)	GNAS (P595R)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3355131	NM_000516.7(GNAS):c.6C>G (p.Gly2=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3354984	NM_080425.4(GNAS):c.701G>C (p.Gly234Ala)	GNAS (G172R +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3354838	NM_080425.4(GNAS):c.1737_1739del (p.Asp579del)	GNAS (D579del +1 more)	Deletion (intron variant)	GNAS-related disorder	GUncertain significance
Select item 3354816	NM_080425.4(GNAS):c.1720G>T (p.Asp574Tyr)	GNAS (D574Y)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3354800	NM_080425.4(GNAS):c.28A>G (p.Asn10Asp)	GNAS (N10D)	Single nucleotide variant (5 prime UTR variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3354642	NM_000516.7(GNAS):c.1084C>T (p.His362Tyr)	GNAS (H1005Y +7 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3354537	NM_080425.4(GNAS):c.778G>T (p.Ala260Ser)	GNAS (A260S)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3354491	NM_016592.5(GNAS):c.41G>A (p.Arg14His)	GNAS, GNAS-AS1 (R14H)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3354462	NM_000516.7(GNAS):c.105G>A (p.Gln35=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3354428	NM_000516.7(GNAS):c.909T>G (p.Ala303=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3354382	NM_080425.4(GNAS):c.586G>A (p.Gly196Arg)	GNAS (G196R)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3354362	NM_000516.7(GNAS):c.27C>G (p.Thr9=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3354326	NM_000516.7(GNAS):c.*253T>C	GNAS	Single nucleotide variant (3 prime UTR variant)	GNAS-related disorder	GLikely benign
Select item 3354321	NM_016592.5(GNAS):c.338_385dup (p.Glu128_Pro129insArgGluThrGluSerGluIleGluSerGluThrAspPheGluThrGlu)	GNAS, GNAS-AS1	Duplication (5 prime UTR variant)	GNAS-related disorder	GUncertain significance
Select item 3354173	NM_000516.7(GNAS):c.438C>T (p.Phe146=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3354030	NM_080425.4(GNAS):c.1337C>T (p.Ala446Val)	GNAS (A446V +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3354004	NM_000516.7(GNAS):c.719-10T>G	GNAS	Single nucleotide variant (intron variant)	GNAS-related disorder	GLikely benign
Select item 3353978	NM_080425.4(GNAS):c.1648G>A (p.Ala550Thr)	GNAS (A550T)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3353974	NM_000516.7(GNAS):c.1044C>T (p.Ile348=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3353767	NM_000516.7(GNAS):c.825C>T (p.Ser275=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3353749	NM_080425.4(GNAS):c.1294G>A (p.Gly432Arg)	GNAS (G432R)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3353733	NM_016592.5(GNAS):c.240del (p.Glu81fs)	GNAS, GNAS-AS1 (E81fs)	Deletion (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3353691	NM_080425.4(GNAS):c.2068+6G>A	GNAS	Single nucleotide variant (intron variant)	GNAS-related disorder	GLikely benign
Select item 3353617	NM_080425.4(GNAS):c.957C>T (p.Asp319=)	GNAS (T257M)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3353521	NM_080425.4(GNAS):c.1796G>A (p.Arg599His)	GNAS (A537T +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3353465	NM_000516.7(GNAS):c.139+8_139+9del	GNAS	Deletion (intron variant)	GNAS-related disorder	GLikely benign
Select item 3353329	NM_080425.4(GNAS):c.1539G>A (p.Ala513=)	GNAS (R451Q)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3353307	NM_000516.7(GNAS):c.1184AAG[1] (p.Ter395=)	GNAS	Microsatellite (no sequence alteration +1 more)	GNAS-related disorder	GLikely benign
Select item 3353270	NM_000516.7(GNAS):c.12C>G (p.Leu4=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3353165	NM_016592.5(GNAS):c.463T>G (p.Phe155Val)	GNAS, GNAS-AS1 (F155V)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3353164	NM_080425.4(GNAS):c.1818C>T (p.Asn606=)	GNAS (T544I)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3353134	NM_080425.4(GNAS):c.1405G>A (p.Ala469Thr)	GNAS (A469T)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3352985	NM_080425.4(GNAS):c.1255G>A (p.Asp419Asn)	GNAS (D419N)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related disorder	GUncertain significance
Select item 3352886	NM_080425.4(GNAS):c.1944G>A (p.Met648Ile)	GNAS (C586Y +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance
Select item 3352851	NM_016592.5(GNAS):c.647G>C (p.Arg216Pro)	GNAS, GNAS-AS1 (R216P)	Single nucleotide variant (5 prime UTR variant +1 more)	GNAS-related disorder	GLikely benign
Select item 3352822	NM_080425.4(GNAS):c.731G>A (p.Arg244Gln)	GNAS (E182K +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder	GUncertain significance

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