"GeneDx"[submitter] AND "GNA11"[gene] - ClinVar

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Search results

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 60233	GRCh38/hg38 19p13.3(chr19:3080621-3730716)x3	CACTIN, CACTIN-AS1 +79 more	Copy number gain	See cases	GUncertain significance
Select item 1264133	NC_000019.10:g.3094217C>G	GNA11	Single nucleotide variant	not provided	GBenign
Select item 1229520	NM_002067.5(GNA11):c.-123G>A	GNA11	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1211124	NM_002067.5(GNA11):c.-43_-4del	GNA11	Deletion (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 2579776	NM_002067.5(GNA11):c.71A>T (p.Glu24Val)	GNA11 (E24V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1232179	NM_002067.5(GNA11):c.136+138C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248252	NM_002067.5(GNA11):c.137-49G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220433	NM_002067.5(GNA11):c.137-9G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 781376	NM_002067.5(GNA11):c.141G>A (p.Thr47=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2499267	NM_002067.5(GNA11):c.175A>T (p.Met59Leu)	GNA11 (M59L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 134472	NM_002067.5(GNA11):c.193G>A (p.Ala65Thr)	GNA11 (A65T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1166476	NM_002067.5(GNA11):c.240C>T (p.Tyr80=)	GNA11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1712146	NM_002067.5(GNA11):c.270G>T (p.Met90Ile)	GNA11 (M90I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258546	NM_002067.5(GNA11):c.321+18T>G	GNA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1275422	NM_002067.5(GNA11):c.321+30C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193444	NM_002067.5(GNA11):c.321+91G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266674	NM_002067.5(GNA11):c.321+156A>G	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271321	NM_002067.5(GNA11):c.321+184A>G	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275186	NM_002067.5(GNA11):c.321+254A>G	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178913	NM_002067.5(GNA11):c.321+276G>C	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229076	NM_002067.5(GNA11):c.322-172G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276742	NM_002067.5(GNA11):c.322-166G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236625	NM_002067.5(GNA11):c.322-152C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196082	NM_002067.5(GNA11):c.322-87G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280733	NM_002067.5(GNA11):c.322-23G>C	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178781	NM_002067.5(GNA11):c.476+95C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236613	NM_002067.5(GNA11):c.476+288T>C	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267503	NM_002067.5(GNA11):c.476+298C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232872	NM_002067.5(GNA11):c.477-241C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187553	NM_002067.5(GNA11):c.477-80_477-78del	GNA11	Deletion (intron variant)	not provided	GLikely benign
Select item 1288741	NM_002067.5(GNA11):c.477-78C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188720	NM_002067.5(GNA11):c.477-42C>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 451089	NM_002067.5(GNA11):c.571G>A (p.Glu191Lys)	GNA11 (E191K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175381	NM_002067.5(GNA11):c.605+54C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235897	NM_002067.5(GNA11):c.605+312G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252640	NM_002067.5(GNA11):c.606-284C>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1308838	NM_002067.5(GNA11):c.646T>A (p.Trp216Arg)	GNA11 (W216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 258547	NM_002067.5(GNA11):c.736-20T>G	GNA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 790432	NM_002067.5(GNA11):c.736-6C>T	GNA11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 258548	NM_002067.5(GNA11):c.771C>T (p.Thr257=)	GNA11	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 258549	NM_002067.5(GNA11):c.889+8G>C	GNA11	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1228990	NM_002067.5(GNA11):c.889+48T>G	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233375	NM_002067.5(GNA11):c.889+49G>T	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254613	NM_002067.5(GNA11):c.889+183G>A	GNA11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237687	NM_002067.5(GNA11):c.890-248T>G	GNA11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1478093	NM_002067.5(GNA11):c.1018G>A (p.Val340Met)	GNA11 (V340M)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1202445	NM_002067.5(GNA11):c.*70C>T	GNA11	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1288944	NM_002067.5(GNA11):c.*112G>A	GNA11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1236535	NM_002067.5(GNA11):c.*133dup	GNA11	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1267538	NM_002067.5(GNA11):c.*189C>T	GNA11	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1225741	NM_002067.5(GNA11):c.290_291dup	GNA11	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1220597	NM_002067.5(GNA11):c.*291dup	GNA11	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1204457	NM_002067.5(GNA11):c.*291del	GNA11	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1240713	NM_002067.5(GNA11):c.292_294del	GNA11	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1212441	NM_002067.5(GNA11):c.*292G>A	GNA11	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign

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Items: 58