"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1328061	NM_016592.5(GNAS):c.441G>A (p.Pro147=)	GNAS, GNAS-AS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1328087	NM_016592.5(GNAS):c.514G>A (p.Asp172Asn)	GNAS, GNAS-AS1 (D172N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 1205909	NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)	GNAS (E52K)	Single nucleotide variant (5 prime UTR variant +2 more)	Progressive osseous heteroplasia +9 more	GConflicting classifications of pathogenicity
Select item 134498	NM_080425.4(GNAS):c.196G>A (p.Glu66Lys)	GNAS (E66K)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 1048823	NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)	GNAS (Q180*)	Single nucleotide variant (synonymous variant +2 more)	GNAS-related condition +8 more	GUncertain significance
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 1328298	NM_080425.4(GNAS):c.821C>T (p.Pro274Leu)	GNAS (P212S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1284745	NM_080425.4(GNAS):c.897C>A (p.Ser299Arg)	GNAS (A237D +1 more)	Single nucleotide variant (missense variant +1 more)	GNAS-related condition	GUncertain significance
Select item 1174620	NM_080425.4(GNAS):c.955GAC[1] (p.Asp320del)	GNAS (D320del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1328065	NM_080425.4(GNAS):c.1001G>A (p.Gly334Asp)	GNAS (A272T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 134477	NM_080425.4(GNAS):c.1188_1196dup (p.Ala400_Asp401insAlaProAla)	GNAS	Duplication (inframe_insertion +1 more)	not provided	GBenign
Select item 1205864	NM_080425.4(GNAS):c.1335G>A (p.Ala445=)	GNAS (R383Q)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
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 134496	NM_080425.4(GNAS):c.1462G>A (p.Ala488Thr)	GNAS (A488T)	Single nucleotide variant (genic upstream transcript variant +3 more)	GNAS-related condition +8 more	GConflicting classifications of pathogenicity
Select item 1328360	NM_080425.4(GNAS):c.1524C>T (p.Ala508=)	GNAS (P446L)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 1328351	NM_080425.4(GNAS):c.1680C>A (p.Gly560=)	GNAS (A498D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 1284799	NM_000516.7(GNAS):c.90G>A (p.Leu30=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 729219	NM_000516.7(GNAS):c.384G>A (p.Val128=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	McCune-Albright syndrome +10 more	GBenign/Likely benign
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 1284589	NM_000516.7(GNAS):c.936T>C (p.Phe312=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	not provided +9 more	GLikely benign

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Items: 25