"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "GNAS"[gene - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2498888	NM_016592.5(GNAS):c.4G>A (p.Asp2Asn)	GNAS, GNAS-AS1 (D2N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2652434	NM_016592.5(GNAS):c.334G>C (p.Glu112Gln)	GNAS, GNAS-AS1 (E112Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2652435	NM_016592.5(GNAS):c.364G>A (p.Glu122Lys)	GNAS, GNAS-AS1 (E122K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2672880	NM_016592.5(GNAS):c.531C>G (p.Arg177=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 783077	NM_016592.5(GNAS):c.651T>A (p.Arg217=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2652436	NM_016592.5(GNAS):c.*42+9924G>A	GNAS, GNAS-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2652437	NM_016592.5(GNAS):c.*42+10000C>T	GNAS, GNAS-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2652438	NM_080425.4(GNAS):c.111T>C (p.Ala37=)	GNAS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1711541	NM_080425.4(GNAS):c.207A>T (p.Gly69=)	GNAS (D7V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 134491	NM_080425.4(GNAS):c.484A>G (p.Met162Val)	GNAS (M162V)	Single nucleotide variant (synonymous variant +2 more)	not provided +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	GBenign/Likely benign
Select item 3026764	NM_080425.4(GNAS):c.1092C>G (p.Ala364=)	GNAS (P302R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1205936	NM_080425.4(GNAS):c.1428C>G (p.Ala476=)	GNAS (P414R)	Single nucleotide variant (missense variant +2 more)	Progressive osseous heteroplasia +8 more	GBenign/Likely benign
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 3026991	NM_080425.4(GNAS):c.1594A>G (p.Ser532Gly)	GNAS (S532G)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 871092	NM_080425.4(GNAS):c.1642G>A (p.Ala548Thr)	GNAS (A548T)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition +1 more	GUncertain significance
Select item 134493	NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly)	GNAS (R600G)	Single nucleotide variant (synonymous variant +2 more)	Pituitary adenoma 3, multiple types +8 more	GBenign/Likely benign
Select item 1695019	NM_080425.4(GNAS):c.2068+323_2068+353del	GNAS	Deletion (intron variant)	not provided	GLikely benign
Select item 2652439	NM_080425.4(GNAS):c.2069-5679A>C	GNAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652440	NM_080425.4(GNAS):c.2069-5657_2069-5646del	GNAS	Deletion (intron variant)	not provided	GLikely benign
Select item 2652441	NM_080425.4(GNAS):c.2069-5515A>C	GNAS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2652442	NM_080425.4(GNAS):c.2069-5457AGA[2]	GNAS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2652443	NM_080425.4(GNAS):c.2069-5435G>A	GNAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3067516	NM_080425.4(GNAS):c.2069-5346_2069-5335del	GNAS	Deletion (intron variant)	not provided	GLikely benign
Select item 2652444	NM_080425.4(GNAS):c.2069-5337C>A	GNAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652445	NM_080425.4(GNAS):c.2069-5316_2069-5305del	GNAS	Deletion (intron variant)	not provided	GLikely benign
Select item 2652446	NM_080425.4(GNAS):c.2069-5304_2069-5281del	GNAS	Deletion (intron variant)	not provided	GLikely benign
Select item 2672881	NM_080425.4(GNAS):c.2069-5306C>T	GNAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652447	NM_080425.4(GNAS):c.2069-4915C>T	GNAS, LOC130066266	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 591741	NM_000516.7(GNAS):c.-178_-171del	GNAS, LOC130066268	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2652448	NM_000516.7(GNAS):c.-23_-14del	GNAS	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1341633	NM_000516.7(GNAS):c.-18_-16GCC[9]	GNAS	Microsatellite (inframe_insertion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193105	NM_000516.7(GNAS):c.-18GCC[7] (p.Met1_Gly2insAla)	GNAS	Microsatellite (inframe_insertion +1 more)	GNAS-related condition +2 more	GBenign/Likely benign
Select item 779991	NM_000516.7(GNAS):c.9C>T (p.Cys3=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3026821	NM_000516.7(GNAS):c.26C>T (p.Thr9Ile)	GNAS (T9I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 782066	NM_000516.7(GNAS):c.219C>T (p.Gly73=)	GNAS	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2672882	NM_000516.7(GNAS):c.347_348dup (p.Val117fs)	GNAS (V102fs +7 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 871093	NM_000516.7(GNAS):c.348dup (p.Val117fs)	GNAS (V58fs +5 more)	Duplication (frameshift variant +1 more)	Pseudohypoparathyroidism type I A +8 more	GPathogenic
Select item 1459427	NM_000516.7(GNAS):c.343C>T (p.Pro115Ser)	GNAS (P100S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 932383	NM_000516.7(GNAS):c.473G>A (p.Gly158Glu)	GNAS (G143E +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2652449	NM_000516.7(GNAS):c.531-1162A>C	GNAS, LOC130066270	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652450	NM_000516.7(GNAS):c.531-1143G>A	GNAS, LOC130066270	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 499467	NM_000516.7(GNAS):c.531-13_531-10del	GNAS	Microsatellite (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 932384	NM_000516.7(GNAS):c.531-2A>T	GNAS	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 15934	NM_000516.7(GNAS):c.602G>A (p.Arg201His)	GNAS (R201H +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +3 more	GPathogenic
Select item 15941	NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)	GNAS (R258W +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +3 more	GConflicting classifications of pathogenicity
Select item 453009	NM_000516.7(GNAS):c.773G>A (p.Arg258Gln)	GNAS (R258Q +5 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related condition +1 more	GPathogenic/Likely pathogenic
Select item 501069	NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)	GNAS (A366T +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +1 more	GConflicting classifications of pathogenicity
Select item 748266	NM_000516.7(GNAS):c.1131C>T (p.Asn377=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	McCune-Albright syndrome +8 more	GLikely benign

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Items: 49