"GeneDx"[submitter] AND "GEN1"[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1261547	NM_001130009.3(GEN1):c.161+52T>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289734	NM_001130009.3(GEN1):c.162-36T>A	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279615	NM_001130009.3(GEN1):c.162-24G>A	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169875	NM_001130009.3(GEN1):c.274T>A (p.Ser92Thr)	GEN1 (S92T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1167770	NM_001130009.3(GEN1):c.348+7A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268654	NM_001130009.3(GEN1):c.348+116C>A	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231264	NM_001130009.3(GEN1):c.348+166T>C	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167514	NM_001130009.3(GEN1):c.428A>G (p.Asn143Ser)	GEN1 (N143S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1283950	NM_001130009.3(GEN1):c.525+107C>T	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232255	NM_001130009.3(GEN1):c.526-223G>A	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286668	NM_001130009.3(GEN1):c.526-98A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169750	NM_001130009.3(GEN1):c.607A>G (p.Ile203Val)	GEN1 (I203V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1263329	NM_001130009.3(GEN1):c.636+78A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226251	NM_001130009.3(GEN1):c.636+259A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246192	NM_001130009.3(GEN1):c.637-63_637-61del	GEN1	Deletion (intron variant)	not provided	GBenign
Select item 1222887	NM_001130009.3(GEN1):c.710+204T>C	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286008	NM_001130009.3(GEN1):c.803-253A>T	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234610	NM_001130009.3(GEN1):c.953+89A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276608	NM_001130009.3(GEN1):c.990+22C>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280388	NM_001130009.3(GEN1):c.1071+81T>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230918	NM_001130009.3(GEN1):c.1072-286G>A	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274142	NM_001130009.3(GEN1):c.1072-283G>A	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268293	NM_001130009.3(GEN1):c.1072-234G>A	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268684	NM_001130009.3(GEN1):c.1203-170T>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232221	NM_001130009.3(GEN1):c.1264+76TA[9]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1286357	NM_001130009.3(GEN1):c.1264+76TA[7]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1182981	NM_001130009.3(GEN1):c.1264+91AC[6]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1232903	NM_001130009.3(GEN1):c.1264+91AC[4]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1276582	NM_001130009.3(GEN1):c.1264+112TA[6]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1287703	NM_001130009.3(GEN1):c.1264+113A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241704	NM_001130009.3(GEN1):c.1264+124T>C	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179895	NM_001130009.3(GEN1):c.1264+133_1264+134insTATGTGTATATATATGTATACACA	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1228111	NM_001130009.3(GEN1):c.1264+135AT[2]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1261274	NM_001130009.3(GEN1):c.1264+136T>C	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261499	NM_001130009.3(GEN1):c.1264+140TG[3]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1261602	NM_001130009.3(GEN1):c.1264+144TA[3]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1265689	NM_001130009.3(GEN1):c.1264+146T>C	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183405	NM_001130009.3(GEN1):c.1264+195_1264+196insCATA	GEN1	Insertion (intron variant)	not provided	GBenign
Select item 1239193	NM_001130009.3(GEN1):c.1264+196_1264+205del	GEN1	Deletion (intron variant)	not provided	GBenign
Select item 1232481	NM_001130009.3(GEN1):c.1264+214TA[2]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1232713	NM_001130009.3(GEN1):c.1264+215_1264+260del	GEN1	Deletion (intron variant)	not provided	GBenign
Select item 1255050	NM_001130009.3(GEN1):c.1264+246TA[2]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1278180	NM_001130009.3(GEN1):c.1264+251AC[4]	GEN1	Microsatellite (intron variant)	not provided	GBenign
Select item 1249180	NM_001130009.3(GEN1):c.1265-195A>G	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257546	NM_001130009.3(GEN1):c.1265-116C>T	GEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169751	NM_001130009.3(GEN1):c.1341A>G (p.Ala447=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1169877	NM_001130009.3(GEN1):c.1971A>G (p.Glu657=)	GEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1169878	NM_001130009.3(GEN1):c.2039C>T (p.Thr680Ile)	GEN1 (T680I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1166195	NM_001130009.3(GEN1):c.2449A>G (p.Thr817Ala)	GEN1 (T817A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1168946	NM_001130009.3(GEN1):c.2515_2519del (p.Lys839fs)	GEN1 (K839fs)	Deletion (frameshift variant)	not provided	GBenign

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Items: 50