"GeneDx"[submitter] AND "SEC23A"[gene] - ClinVar

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Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 57778	GRCh38/hg38 14q21.1(chr14:38817817-40894390)x1	FBXO33, GEMIN2 +28 more	Copy number loss	See cases	GPathogenic
Select item 683759	NM_006364.4(SEC23A):c.2209-13dup	SEC23A	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1283041	NM_006364.4(SEC23A):c.2209-95_2209-94insATTGTTCT	SEC23A	Insertion (intron variant)	not provided	GBenign
Select item 1280265	NM_006364.4(SEC23A):c.2209-99_2209-98insTT	SEC23A	Insertion (intron variant)	not provided	GBenign
Select item 1252741	NM_006364.4(SEC23A):c.2209-100_2209-99insTTATT	SEC23A	Insertion (intron variant)	not provided	GBenign
Select item 1289736	NM_006364.4(SEC23A):c.2208+168C>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212127	NM_006364.4(SEC23A):c.2146C>T (p.Arg716Cys)	SEC23A (R716C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1181688	NM_006364.4(SEC23A):c.2143-307G>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309243	NM_006364.4(SEC23A):c.2051T>G (p.Leu684Arg)	SEC23A (L684R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291639	NM_006364.4(SEC23A):c.1987-82A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242001	NM_006364.4(SEC23A):c.1986+37del	SEC23A	Deletion (intron variant)	not provided	GBenign
Select item 1210540	NM_006364.4(SEC23A):c.1900-22C>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283462	NM_006364.4(SEC23A):c.1900-38del	SEC23A	Deletion (intron variant)	not provided	GBenign
Select item 1244399	NM_006364.4(SEC23A):c.1900-46A>T	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia +1 more	GBenign
Select item 1262790	NM_006364.4(SEC23A):c.1900-271C>T	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252507	NM_006364.4(SEC23A):c.1899+136A>T	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230596	NM_006364.4(SEC23A):c.1899+93A>C	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309242	NM_006364.4(SEC23A):c.1815C>G (p.His605Gln)	SEC23A (H605Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315324	NM_006364.4(SEC23A):c.1759T>A (p.Ser587Thr)	SEC23A (S587T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1178001	NM_006364.4(SEC23A):c.1738-206dup	SEC23A	Duplication (intron variant)	not provided	GBenign
Select item 1275605	NM_006364.4(SEC23A):c.1738-235A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264216	NM_006364.4(SEC23A):c.1737+200del	SEC23A	Deletion (intron variant)	not provided	GBenign
Select item 1271742	NM_006364.4(SEC23A):c.1737+165A>T	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706712	NM_006364.4(SEC23A):c.1737+69A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1167248	NM_006364.4(SEC23A):c.1668A>G (p.Lys556=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia +1 more	GBenign
Select item 1234915	NM_006364.4(SEC23A):c.1660-163G>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238940	NM_006364.4(SEC23A):c.1660-202A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237647	NM_006364.4(SEC23A):c.1659+212G>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283791	NM_006364.4(SEC23A):c.1506-129dup	SEC23A	Duplication (intron variant)	not provided	GBenign
Select item 1267223	NM_006364.4(SEC23A):c.1506-129_1506-128dup	SEC23A	Duplication (intron variant)	not provided	GBenign
Select item 1257496	NM_006364.4(SEC23A):c.1506-115del	SEC23A	Deletion (intron variant)	not provided	GBenign
Select item 1230257	NM_006364.4(SEC23A):c.1506-258G>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195293	NM_006364.4(SEC23A):c.1505+218T>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1307957	NM_006364.4(SEC23A):c.1486G>A (p.Val496Met)	SEC23A (V496M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1287483	NM_006364.4(SEC23A):c.1399-206A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250499	NM_006364.4(SEC23A):c.1399-246A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276773	NM_006364.4(SEC23A):c.1398+90C>T	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226777	NM_006364.4(SEC23A):c.1398+36A>G	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia +1 more	GBenign
Select item 1257904	NM_006364.4(SEC23A):c.1104-240del	SEC23A	Deletion (intron variant)	not provided	GBenign
Select item 1263280	NM_006364.4(SEC23A):c.1103+111A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277047	NM_006364.4(SEC23A):c.988-83_988-81dup	SEC23A	Duplication (intron variant)	not provided	GBenign
Select item 1233785	NM_006364.4(SEC23A):c.988-247G>C	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 464900	NM_006364.4(SEC23A):c.927T>C (p.Pro309=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia +1 more	GBenign
Select item 1211053	NM_006364.4(SEC23A):c.829-188A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243904	NM_006364.4(SEC23A):c.829-224T>C	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243719	NM_006364.4(SEC23A):c.828+185G>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257614	NM_006364.4(SEC23A):c.828+72TA[2]	SEC23A	Microsatellite (intron variant)	not provided	GBenign
Select item 1183049	NM_006364.4(SEC23A):c.828+75A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1195000	NM_006364.4(SEC23A):c.828+63_828+74del	SEC23A	Deletion (intron variant)	not provided	GLikely benign
Select item 1326167	NM_006364.4(SEC23A):c.828+72_828+73insTGTGTGTA	SEC23A	Insertion (intron variant)	not provided	GLikely benign
Select item 1265366	NM_006364.4(SEC23A):c.828+73A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260931	NM_006364.4(SEC23A):c.828+33GT[24]	SEC23A	Microsatellite (intron variant)	not provided	GBenign
Select item 1214062	NM_006364.4(SEC23A):c.828+33GT[21]	SEC23A	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1291778	NM_006364.4(SEC23A):c.828+33GT[19]	SEC23A	Microsatellite (intron variant)	not provided	GBenign
Select item 1246061	NM_006364.4(SEC23A):c.828+33GT[14]	SEC23A	Microsatellite (intron variant)	not provided	GBenign
Select item 1284056	NM_006364.4(SEC23A):c.683+172G>T	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229448	NM_006364.4(SEC23A):c.683+99A>C	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683729	NM_006364.4(SEC23A):c.631C>G (p.Leu211Val)	SEC23A (L211V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1178705	NM_006364.4(SEC23A):c.603+221_603+227del	SEC23A	Deletion (intron variant)	not provided	GLikely benign
Select item 1167578	NM_006364.4(SEC23A):c.222-16dup	SEC23A	Duplication (intron variant)	Craniolenticulosutural dysplasia +1 more	GBenign
Select item 1180296	NM_006364.4(SEC23A):c.222-72A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183534	NM_006364.4(SEC23A):c.222-171G>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280779	NM_006364.4(SEC23A):c.222-250A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253697	NM_006364.4(SEC23A):c.222-281G>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224687	NM_006364.4(SEC23A):c.221+229T>C	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181588	NM_006364.4(SEC23A):c.-21-60A>T	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280916	NM_006364.4(SEC23A):c.-21-110T>C	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280230	NM_006364.4(SEC23A):c.-21-213C>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288369	NM_006364.4(SEC23A):c.-21-259G>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280406	NM_006364.4(SEC23A):c.-21-260C>T	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 71