ClinVar for MedGen (Select 488447) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3256585	NM_000516.7(GNAS):c.31_38del (p.Asp11fs)	GNAS (D11fs)	Deletion (frameshift variant +1 more)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 3235137	NM_000516.7(GNAS):c.286A>G (p.Lys96Glu)	GNAS (K37E +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 3068317	NM_080425.4(GNAS):c.344G>A (p.Trp115Ter)	GNAS (G53S +1 more)	Single nucleotide variant (missense variant +2 more)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 2672103	NM_000516.7(GNAS):c.380G>C (p.Arg127Thr)	GNAS (R112T +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GUncertain significance
Select item 2664039	NM_000516.7(GNAS):c.967G>C (p.Asp323His)	GNAS (D264H +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GUncertain significance
Select item 2585419	NM_000516.7(GNAS):c.658del (p.His220fs)	GNAS (H188fs +7 more)	Deletion (frameshift variant +1 more)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 2584551	NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu)	GNAS (K667E)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type 1C +3 more	GUncertain significance
Select item 2576580	NM_000516.7(GNAS):c.878A>G (p.Lys293Arg)	GNAS (K234R +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 2575232	NM_000516.7(GNAS):c.258-6C>G	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type I A	GUncertain significance
Select item 2572583	NM_000516.7(GNAS):c.585+1G>A	GNAS	Single nucleotide variant (splice donor variant)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 2572462	NM_000516.7(GNAS):c.433G>T (p.Glu145Ter)	GNAS (E113* +7 more)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
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 +2 more	GUncertain significance
Select item 2412807	NM_000516.7(GNAS):c.479G>C (p.Arg160Pro)	GNAS (R101P +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1803875	NM_080425.4(GNAS):c.748G>A (p.Asp250Asn)	GNAS (D250N)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type I A +3 more	GUncertain significance
Select item 1803863	NM_016592.5(GNAS):c.613G>A (p.Glu205Lys)	GNAS, GNAS-AS1 (E205K)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoparathyroidism type I A +3 more	GUncertain significance
Select item 1803856	NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys)	GNAS (R600C)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type I A +3 more	GUncertain significance
Select item 1803850	NM_080425.4(GNAS):c.787G>A (p.Ala263Thr)	GNAS (A263T)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type I A +3 more	GUncertain significance
Select item 1803844	NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser)	GNAS (T502P +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +3 more	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)	Pseudohypoparathyroidism type I A +4 more	GConflicting classifications of pathogenicity
Select item 1705601	NM_000516.7(GNAS):c.284T>A (p.Ile95Asn)	GNAS (I36N +7 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GUncertain significance
Select item 1705346	NM_000516.7(GNAS):c.415_418del (p.Asp139fs)	GNAS (D124fs +5 more)	Deletion (frameshift variant +1 more)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 1698745	NM_000516.7(GNAS):c.845T>G (p.Leu282Arg)	GNAS (L223R +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GLikely 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
Select item 1692997	NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG	GNAS	Indel (intron variant)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1691861	NM_000516.7(GNAS):c.470_472del (p.Glu157del)	GNAS (E142del +5 more)	Deletion (inframe_deletion +1 more)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 1690650	NM_000516.7(GNAS):c.446A>G (p.His149Arg)	GNAS (H134R +5 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1686708	NM_000516.7(GNAS):c.683G>A (p.Arg228His)	GNAS (R169H +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudopseudohypoparathyroidism +8 more	GUncertain significance
Select item 1685856	NM_000516.7(GNAS):c.602dup (p.Val202fs)	GNAS (V143fs +5 more)	Duplication (frameshift variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1685855	NM_000516.7(GNAS):c.596G>C (p.Arg199Pro)	GNAS (R140P +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1684502	NM_016592.5(GNAS):c.7C>T (p.Arg3Trp)	GNAS, GNAS-AS1 (R3W)	Single nucleotide variant (5 prime UTR variant +1 more)	Pseudohypoparathyroidism type I A	GUncertain significance
Select item 1679572	NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly)	GNAS (S625G)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type 1C +4 more	GUncertain significance
Select item 1679248	NM_000516.7(GNAS):c.154G>A (p.Gly52Ser)	GNAS (G52S +1 more)	Single nucleotide variant (missense variant +3 more)	Pseudohypoparathyroidism type I A	GLikely pathogenic
Select item 1647292	NM_000516.7(GNAS):c.660-19C>T	GNAS	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1639287	NM_000516.7(GNAS):c.213-11C>T	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1637666	NM_000516.7(GNAS):c.312+17T>C	GNAS	Single nucleotide variant (intron variant)	McCune-Albright syndrome +8 more	GLikely benign
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 1628862	NM_000516.7(GNAS):c.660-15C>A	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1626827	NM_000516.7(GNAS):c.258-7A>C	GNAS	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1601588	NM_000516.7(GNAS):c.1038+17_1038+20del	GNAS	Deletion (intron variant)	not provided +8 more	GBenign/Likely benign
Select item 1597362	NM_000516.7(GNAS):c.136C>T (p.Leu46=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	not provided +8 more	GLikely benign
Select item 1596750	NM_000516.7(GNAS):c.1039-4G>A	GNAS	Single nucleotide variant (intron variant)	not provided +8 more	GLikely benign
Select item 1560162	NM_000516.7(GNAS):c.738C>T (p.Phe246=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	McCune-Albright syndrome +8 more	GLikely benign
Select item 1526066	NM_000516.7(GNAS):c.950G>A (p.Arg317His)	GNAS (R258H +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GUncertain significance
Select item 1431017	NM_000516.7(GNAS):c.367G>A (p.Glu123Lys)	GNAS (E109K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 1334571	NM_000516.7(GNAS):c.124dup (p.Arg42fs)	GNAS (R42fs)	Duplication (frameshift variant +1 more)	Pseudohypoparathyroidism type 1B +4 more	GLikely pathogenic
Select item 1332852	NM_000516.7(GNAS):c.3G>T (p.Met1Ile)	GNAS (M1I)	Single nucleotide variant (missense variant +2 more)	Pseudohypoparathyroidism type I A	GPathogenic
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 1299925	NM_000516.7(GNAS):c.576G>T (p.Pro192=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	McCune-Albright syndrome +8 more	GLikely benign
Select item 1284681	NM_000516.7(GNAS):c.357G>A (p.Leu119=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1C +8 more	GBenign/Likely benign
Select item 1284589	NM_000516.7(GNAS):c.936T>C (p.Phe312=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	ACTH-independent macronodular adrenal hyperplasia 1 +8 more	GLikely benign
Select item 1284575	NM_016592.5(GNAS):c.537G>A (p.Pro179=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	ACTH-independent macronodular adrenal hyperplasia 1 +8 more	GLikely benign
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 1215279	NM_000516.7(GNAS):c.985G>A (p.Gly329Arg)	GNAS (G270R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GUncertain significance
Select item 1205936	NM_080425.4(GNAS):c.1428C>G (p.Ala476=)	GNAS (P414R)	Single nucleotide variant (missense variant +2 more)	not provided +8 more	GBenign/Likely benign
Select item 1205909	NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)	GNAS (E52K)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +8 more	GConflicting classifications of pathogenicity
Select item 1203026	NM_080425.4(GNAS):c.1395A>C (p.Pro465=)	GNAS (Q403P)	Single nucleotide variant (missense variant +2 more)	McCune-Albright syndrome +8 more	GLikely benign
Select item 1098700	NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)	GNAS (G315C +1 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1B +8 more	GUncertain significance
Select item 1065895	NM_000516.7(GNAS):c.1115T>C (p.Ile372Thr)	GNAS (I372T +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065894	NM_000516.7(GNAS):c.1067G>A (p.Arg356His)	GNAS (R356H +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065893	NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg)	GNAS (G353R +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065892	NM_000516.7(GNAS):c.1040G>C (p.Arg347Thr)	GNAS (R347T +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065891	NM_000516.7(GNAS):c.1025G>A (p.Arg342Gln)	GNAS (R342Q +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065890	NM_000516.7(GNAS):c.917C>T (p.Ser306Leu)	GNAS (S306L +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065889	NM_000516.7(GNAS):c.794G>A (p.Arg265His)	GNAS (R265H +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +1 more	GPathogenic/Likely pathogenic
Select item 1065888	NM_000516.7(GNAS):c.773G>T (p.Arg258Leu)	GNAS (R258L +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065887	NM_000516.7(GNAS):c.702G>C (p.Trp234Cys)	GNAS (W234C +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +1 more	GConflicting classifications of pathogenicity
Select item 1065886	NM_000516.7(GNAS):c.682C>T (p.Arg228Cys)	GNAS (R228C +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1065885	NM_000516.7(GNAS):c.595C>T (p.Arg199Cys)	GNAS (R199C +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065884	NM_000516.7(GNAS):c.507C>A (p.Tyr169Ter)	GNAS (Y169X +5 more)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065883	NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter)	GNAS (Y163X +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1065882	NM_000516.7(GNAS):c.1150C>G (p.Gln384Glu)	GNAS (Q384E +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065881	NM_000516.7(GNAS):c.127C>G (p.Leu43Val)	GNAS (L43V)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065880	NM_000516.7(GNAS):c.124C>A (p.Arg42Ser)	GNAS (R42S)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A	GPathogenic
Select item 1065524	NM_000516.7(GNAS):c.403_411del (p.Met135_Val137del)	GNAS	Deletion (inframe_deletion +1 more)	Pseudohypoparathyroidism type 1C +1 more	GLikely pathogenic
Select item 1048823	NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)	GNAS (Q180*)	Single nucleotide variant (synonymous variant +2 more)	McCune-Albright syndrome +7 more	GUncertain significance
Select item 931358	NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)	GNAS (A426P)	Single nucleotide variant (genic upstream transcript variant +3 more)	McCune-Albright syndrome +8 more	GConflicting classifications of pathogenicity
Select item 930718	NM_080425.4(GNAS):c.1323C>T (p.Pro441=)	GNAS (P379L)	Single nucleotide variant (missense variant +2 more)	McCune-Albright syndrome +7 more	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 816910	NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	GNAS (R172C +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1B +11 more	GPathogenic/Likely pathogenic
Select item 803616	NM_080425.4(GNAS):c.505C>T (p.Pro169Ser)	GNAS (P169S)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type 1B +4 more	GUncertain significance
Select item 781570	NM_080425.4(GNAS):c.1221C>G (p.Thr407=)	GNAS (P345R)	Single nucleotide variant (missense variant +2 more)	not provided +8 more	GBenign/Likely benign
Select item 748266	NM_000516.7(GNAS):c.1131C>T (p.Asn377=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 744959	NM_000516.7(GNAS):c.684C>T (p.Arg228=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1B +8 more	GLikely benign
Select item 729219	NM_000516.7(GNAS):c.384G>A (p.Val128=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1B +9 more	GBenign/Likely benign
Select item 729218	NM_000516.7(GNAS):c.366C>T (p.Pro122=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	not provided +10 more	GBenign/Likely benign
Select item 727640	NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)	GNAS (D320N)	Single nucleotide variant (genic upstream transcript variant +3 more)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 722980	NM_000516.7(GNAS):c.951C>T (p.Arg317=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1C +9 more	GBenign/Likely benign
Select item 719213	NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)	GNAS (S305P)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type 1B +8 more	GLikely benign
Select item 715266	NM_000516.7(GNAS):c.111C>T (p.Tyr37=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1B +8 more	GLikely benign
Select item 715265	NM_000516.7(GNAS):c.75G>A (p.Lys25=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1B +8 more	GLikely benign
Select item 503518	NM_080425.4(GNAS):c.890del (p.Gly297fs)	GNAS (A235fs +1 more)	Deletion (frameshift variant +1 more)	Pseudopseudohypoparathyroidism +3 more	GUncertain significance
Select item 501069	NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)	GNAS (A366T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 489076	NM_080425.4(GNAS):c.98C>A (p.Ala33Asp)	GNAS (A33D)	Single nucleotide variant (5 prime UTR variant +2 more)	Pseudopseudohypoparathyroidism +9 more	GUncertain significance
Select item 417936	NM_080425.4(GNAS):c.1455C>A (p.Ala485=)	GNAS (P423H)	Single nucleotide variant (missense variant +2 more)	not provided +8 more	GBenign/Likely benign
Select item 209158	NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	GNAS (Q12*)	Single nucleotide variant (nonsense +1 more)	not provided +11 more	GPathogenic
Select item 197681	NM_000516.7(GNAS):c.393C>T (p.Ile131=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudopseudohypoparathyroidism +6 more	GBenign
Select item 134496	NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)	GNAS (A488T)	Single nucleotide variant (genic upstream transcript variant +3 more)	Pseudopseudohypoparathyroidism +7 more	GLikely benign
Select item 134493	NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)	GNAS (R600G)	Single nucleotide variant (synonymous variant +2 more)	not provided +8 more	GBenign/Likely benign
Select item 134491	NM_080425.4(GNAS):c.484A>G (p.Met162Val)	GNAS (M162V)	Single nucleotide variant (synonymous variant +2 more)	Pseudopseudohypoparathyroidism +8 more	GBenign/Likely benign

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