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

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Search results

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 1237325	NC_000006.12:g.160701899G>A	PLG	Single nucleotide variant	not provided	GBenign
Select item 1237284	NC_000006.12:g.160702126G>T	PLG	Single nucleotide variant	not provided	GBenign
Select item 1230328	NC_000006.12:g.160702153T>C	PLG	Single nucleotide variant	not provided	GBenign
Select item 1248531	NM_000301.5(PLG):c.-35G>A	PLG	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1252883	NM_000301.5(PLG):c.49+28G>T	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221071	NM_000301.5(PLG):c.49+66T>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247104	NM_000301.5(PLG):c.50-314G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 13583	NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	PLG (K38E)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GConflicting classifications of pathogenicity
Select item 1232881	NM_000301.5(PLG):c.186-115G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242578	NM_000301.5(PLG):c.292+49A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226743	NM_000301.5(PLG):c.292+84A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183318	NM_000301.5(PLG):c.292+107T>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180987	NM_000301.5(PLG):c.292+109G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268764	NM_000301.5(PLG):c.292+129G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222577	NM_000301.5(PLG):c.292+175G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182014	NM_000301.5(PLG):c.293-291C>T	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242787	NM_000301.5(PLG):c.330C>T (p.Asn110=)	PLG	Single nucleotide variant (synonymous variant)	Plasminogen deficiency, type I +2 more	GBenign
Select item 1289621	NM_000301.5(PLG):c.407+194T>G	PLG	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1256795	NM_000301.5(PLG):c.408-333A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237885	NM_000301.5(PLG):c.547+116C>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236548	NM_000301.5(PLG):c.547+147_547+148insTT	PLG	Insertion (intron variant)	not provided	GBenign
Select item 1279275	NM_000301.5(PLG):c.547+160dup	PLG	Duplication (intron variant)	not provided	GBenign
Select item 1271785	NM_000301.5(PLG):c.547+159_547+160dup	PLG	Duplication (intron variant)	not provided	GBenign
Select item 1230150	NM_000301.5(PLG):c.548-320_548-319insA	PLG	Insertion (intron variant)	not provided	GBenign
Select item 1224249	NM_000301.5(PLG):c.548-118A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1304561	NM_000301.5(PLG):c.598A>G (p.Thr200Ala)	PLG (T200A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276813	NM_000301.5(PLG):c.668+112T>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274577	NM_000301.5(PLG):c.669-159T>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247899	NM_000301.5(PLG):c.669-154T>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175104	NM_000301.5(PLG):c.669-14T>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175116	NM_000301.5(PLG):c.771T>C (p.Cys257=)	PLG	Single nucleotide variant (synonymous variant)	Plasminogen deficiency, type I +2 more	GBenign
Select item 1274066	NM_000301.5(PLG):c.787+195G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225911	NM_000301.5(PLG):c.788-268C>T	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174797	NM_000301.5(PLG):c.942C>T (p.Phe314=)	PLG	Single nucleotide variant (synonymous variant)	Plasminogen deficiency, type I +2 more	GBenign
Select item 1174642	NM_000301.5(PLG):c.950+14G>A	PLG	Single nucleotide variant (intron variant)	Angioedema, hereditary, 4 +2 more	GBenign
Select item 1174953	NM_000301.5(PLG):c.1083A>G (p.Gln361=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1237565	NM_000301.5(PLG):c.1097-250T>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272428	NM_000301.5(PLG):c.1097-207A>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258345	NM_000301.5(PLG):c.1097-64A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175041	NM_000301.5(PLG):c.1256+9T>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244588	NM_000301.5(PLG):c.1256+35A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260936	NM_000301.5(PLG):c.1257-115T>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 692202	NM_000301.5(PLG):c.1414G>A (p.Asp472Asn)	PLG (D472N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245480	NM_000301.5(PLG):c.1438+30A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281101	NM_000301.5(PLG):c.1438+185G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265434	NM_000301.5(PLG):c.1587+155A>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229589	NM_000301.5(PLG):c.1588-149G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265723	NM_000301.5(PLG):c.1588-72C>T	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 546113	NM_000301.5(PLG):c.1657G>A (p.Asp553Asn)	PLG (D553N)	Single nucleotide variant (missense variant)	Plasminogen deficiency, type I +2 more	GUncertain significance
Select item 1248977	NM_000301.5(PLG):c.1803-204T>G	LOC126859861, PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263884	NM_000301.5(PLG):c.1878-17G>A	PLG	Single nucleotide variant (intron variant)	Plasminogen deficiency, type I +2 more	GBenign
Select item 1225166	NM_000301.5(PLG):c.2018+265T>C	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233852	NM_000301.5(PLG):c.2018+301G>A	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268733	NM_000301.5(PLG):c.2082T>C (p.Ala694=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1241199	NM_000301.5(PLG):c.2126-205C>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234091	NM_000301.5(PLG):c.2126-55C>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 785201	NM_000301.5(PLG):c.2259T>C (p.Thr753=)	PLG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1231821	NM_000301.5(PLG):c.2271+318A>G	PLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241596	NM_000301.5(PLG):c.2286T>G (p.Gly762=)	PLG	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1247506	NM_000301.5(PLG):c.*45A>G	PLG	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 1282009	NM_000301.5(PLG):c.*289del	PLG	Deletion (3 prime UTR variant)	not provided	GBenign

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Items: 62