ClinVar for MedGen (Select 420958) - ClinVar

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

Links from MedGen

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2572555	NM_000516.7(GNAS):c.313-3C>G	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1C	GUncertain significance
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 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 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 1B +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 1B +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 1B +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 1B +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 1B +5 more	GConflicting classifications of pathogenicity
Select item 1705690	NM_000516.7(GNAS):c.460_461del (p.Trp154fs)	GNAS (W139fs +5 more)	Microsatellite (frameshift variant +1 more)	Pseudohypoparathyroidism type 1C	GPathogenic
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 1679572	NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly)	GNAS (S625G)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism type 1B +4 more	GUncertain significance
Select item 1647292	NM_000516.7(GNAS):c.660-19C>T	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1C +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)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1629295	NM_000516.7(GNAS):c.530+11G>A	GNAS	Single nucleotide variant (intron variant)	Progressive osseous heteroplasia +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 +9 more	GLikely benign
Select item 1601588	NM_000516.7(GNAS):c.1038+17_1038+20del	GNAS	Deletion (intron variant)	Pseudohypoparathyroidism type 1C +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)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1596750	NM_000516.7(GNAS):c.1039-4G>A	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism type 1C +8 more	GLikely benign
Select item 1560162	NM_000516.7(GNAS):c.738C>T (p.Phe246=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1C +9 more	GLikely benign
Select item 1500589	NM_000516.7(GNAS):c.1006C>T (p.Arg336Trp)	GNAS (R277W +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1C +1 more	GPathogenic/Likely pathogenic
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 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)	not provided +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)	not provided +9 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)	McCune-Albright syndrome +8 more	GBenign/Likely benign
Select item 1217738	NM_000516.7(GNAS):c.91C>T (p.Gln31Ter)	GNAS (Q31*)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism type 1C +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)	McCune-Albright syndrome +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)	GNAS-related disorder +9 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)	GNAS-related disorder +9 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)	not provided +8 more	GUncertain significance
Select item 1065524	NM_000516.7(GNAS):c.403_411del (p.Met135_Val137del)	GNAS	Deletion (inframe_deletion +1 more)	Pseudohypoparathyroidism type I A +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)	GNAS-related disorder +8 more	GUncertain significance
Select item 987921	NM_000516.5:c.(?_-424)_(257_?)dup	GNAS	Duplication	Cushing syndrome +7 more	GPathogenic
Select item 931358	NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro)	GNAS (A426P)	Single nucleotide variant (genic upstream transcript variant +3 more)	Pseudohypoparathyroidism type 1B +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)	Pseudohypoparathyroidism type 1B +7 more	GUncertain significance
Select item 871093	NM_000516.7(GNAS):c.348dup (p.Val117fs)	GNAS (V58fs +5 more)	Duplication (frameshift variant +1 more)	Pituitary adenoma 3, multiple types +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)	not provided +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)	McCune-Albright syndrome +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)	Pseudohypoparathyroidism type 1B +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)	not provided +8 more	GLikely benign
Select item 744959	NM_000516.7(GNAS):c.684C>T (p.Arg228=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	ACTH-independent macronodular adrenal hyperplasia 1 +8 more	GLikely benign
Select item 729219	NM_000516.7(GNAS):c.384G>A (p.Val128=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	not specified +10 more	GBenign/Likely benign
Select item 729218	NM_000516.7(GNAS):c.366C>T (p.Pro122=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism +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)	not provided +8 more	GLikely benign
Select item 722980	NM_000516.7(GNAS):c.951C>T (p.Arg317=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	McCune-Albright syndrome +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)	Progressive osseous heteroplasia +8 more	GLikely benign
Select item 715266	NM_000516.7(GNAS):c.111C>T (p.Tyr37=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	McCune-Albright syndrome +9 more	GLikely benign
Select item 715265	NM_000516.7(GNAS):c.75G>A (p.Lys25=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	McCune-Albright syndrome +9 more	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 417936	NM_080425.4(GNAS):c.1455C>A (p.Ala485=)	GNAS (P423H)	Single nucleotide variant (missense variant +2 more)	Pseudohypoparathyroidism type 1C +8 more	GBenign/Likely benign
Select item 417934	NM_080425.4(GNAS):c.1200C>A (p.Ala400=)	GNAS (P338Q)	Single nucleotide variant (missense variant +2 more)	Cushing syndrome +7 more	GUncertain significance
Select item 374113	NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	GNAS (Q29*)	Single nucleotide variant (intron variant +1 more)	Cushing syndrome +16 more	GPathogenic
Select item 216937	NM_000516.7(GNAS):c.880C>T (p.Gln294Ter)	GNAS (Q294* +5 more)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism +1 more	GLikely pathogenic
Select item 209158	NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	GNAS (Q12*)	Single nucleotide variant (nonsense +1 more)	GNAS-related disorder +11 more	GPathogenic
Select item 197681	NM_000516.7(GNAS):c.393C>T (p.Ile131=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type I A +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)	Pseudohypoparathyroidism type 1C +8 more	GConflicting classifications of pathogenicity
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)	Pseudohypoparathyroidism type 1C +8 more	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 134480	NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg)	GNAS (L397V +1 more)	Single nucleotide variant (missense variant +2 more)	GNAS-related disorder +9 more	GBenign/Likely benign
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 134475	NM_000516.7(GNAS):c.432C>T (p.Pro144=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	Pseudohypoparathyroidism type 1B +8 more	GBenign/Likely benign
Select item 29747	NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys)	GNAS (E392K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 29746	NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg)	GNAS (L388R +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type 1C	GPathogenic
Select item 29745	NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter)	GNAS (E392* +5 more)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism type 1C	GPathogenic
Select item 15959	NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter)	GNAS (Y1034* +4 more)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism type 1C	GPathogenic
Select item 15938	NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	GNAS (D130fs +5 more)	Deletion (frameshift variant +1 more)	not specified +13 more	GConflicting classifications of pathogenicity
Select item 15927	NM_000516.7(GNAS):c.1A>G (p.Met1Val)	GNAS (M1V)	Single nucleotide variant (missense variant +2 more)	Pituitary adenoma 3, multiple types +8 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 74