SEC23A[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 219

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 57775	GRCh38/hg38 14q13.3-21.1(chr14:36434568-41102476)x1	CLEC14A, FBXO33 +62 more	Copy number loss	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 155083	GRCh38/hg38 14q21.1(chr14:38828029-40664503)x1	FBXO33, GEMIN2 +28 more	Copy number loss	See cases	GUncertain significance
Select item 2802989	NM_006364.4(SEC23A):c.2261del (p.Asp754fs)	SEC23A (D754fs)	Deletion (frameshift variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 3349766	NM_006364.4(SEC23A):c.2242A>G (p.Ser748Gly)	SEC23A (S748G)	Single nucleotide variant (missense variant)	SEC23A-related disorder	GUncertain significance
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 2100035	NM_006364.4(SEC23A):c.2208+20C>T	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 576528	NM_006364.4(SEC23A):c.2208+6T>A	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 3159247	NM_006364.4(SEC23A):c.2191A>G (p.Met731Val)	SEC23A (M731V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715781	NM_006364.4(SEC23A):c.2166C>T (p.Val722=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 725508	NM_006364.4(SEC23A):c.2154C>T (p.Leu718=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
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 788183	NM_006364.4(SEC23A):c.2142+3_2142+4dup	SEC23A	Duplication (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 39521	NM_006364.4(SEC23A):c.2104A>G (p.Met702Val)	SEC23A (M702V)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 3317091	NM_006364.4(SEC23A):c.2086C>T (p.Leu696Phe)	SEC23A (L696F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054234	NM_006364.4(SEC23A):c.2061C>A (p.Ala687=)	SEC23A	Single nucleotide variant (synonymous variant)	SEC23A-related disorder	GLikely benign
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 2518339	NM_006364.4(SEC23A):c.2044C>T (p.Arg682Cys)	SEC23A (R682C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1346764	NM_006364.4(SEC23A):c.2038A>G (p.Asn680Asp)	SEC23A (N680D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3317089	NM_006364.4(SEC23A):c.1997A>G (p.Gln666Arg)	SEC23A (Q666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2958231	NM_006364.4(SEC23A):c.1987-15T>C	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
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 3317090	NM_006364.4(SEC23A):c.1919G>A (p.Ser640Asn)	SEC23A (S640N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732301	NM_006364.4(SEC23A):c.1906C>T (p.Leu636Phe)	SEC23A (L636F)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 2715411	NM_006364.4(SEC23A):c.1900-6C>T	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 791748	NM_006364.4(SEC23A):c.1900-10T>C	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	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 2294049	NM_006364.4(SEC23A):c.1894C>T (p.Pro632Ser)	SEC23A (P632S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1138393	NM_006364.4(SEC23A):c.1875G>A (p.Ala625=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1357415	NM_006364.4(SEC23A):c.1864A>G (p.Ile622Val)	SEC23A (I622V)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2526880	NM_006364.4(SEC23A):c.1856T>C (p.Ile619Thr)	SEC23A (I619T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558627	NM_006364.4(SEC23A):c.1837A>T (p.Thr613Ser)	SEC23A (T613S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2462808	NM_006364.4(SEC23A):c.1813C>T (p.His605Tyr)	SEC23A (H605Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686940	NM_006364.4(SEC23A):c.1795G>A (p.Glu599Lys)	SEC23A (E599K)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GLikely pathogenic
Select item 2080577	NM_006364.4(SEC23A):c.1784A>G (p.Asn595Ser)	SEC23A (N595S)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	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 1661991	NM_006364.4(SEC23A):c.1737+20A>G	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1469786	NM_006364.4(SEC23A):c.1718C>A (p.Thr573Asn)	SEC23A (T573N)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2758827	NM_006364.4(SEC23A):c.1694del (p.Pro565fs)	SEC23A (P565fs)	Deletion (frameshift variant)	Craniolenticulosutural dysplasia	GUncertain significance
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 1102204	NM_006364.4(SEC23A):c.1626G>A (p.Val542=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 3159243	NM_006364.4(SEC23A):c.1609G>A (p.Glu537Lys)	SEC23A (E537K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473422	NM_006364.4(SEC23A):c.1607C>T (p.Thr536Ile)	SEC23A (T536I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412579	NM_006364.4(SEC23A):c.1583G>A (p.Arg528Gln)	SEC23A (R528Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317094	NM_006364.4(SEC23A):c.1511C>T (p.Ala504Val)	SEC23A (A504V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2819912	NM_006364.4(SEC23A):c.1504A>C (p.Asn502His)	SEC23A (N502H)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1388311	NM_006364.4(SEC23A):c.1495A>G (p.Ile499Val)	SEC23A (I499V)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
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 2796642	NM_006364.4(SEC23A):c.1483C>T (p.Arg495Ter)	SEC23A (R495*)	Single nucleotide variant (nonsense)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1426950	NM_006364.4(SEC23A):c.1460A>G (p.His487Arg)	SEC23A (H487R)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2060804	NM_006364.4(SEC23A):c.1458G>A (p.Gln486=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 3317093	NM_006364.4(SEC23A):c.1432G>T (p.Ala478Ser)	SEC23A (A478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159242	NM_006364.4(SEC23A):c.1432G>C (p.Ala478Pro)	SEC23A (A478P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399948	NM_006364.4(SEC23A):c.1427G>A (p.Arg476His)	SEC23A (R476H)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia +1 more	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 2271517	NM_006364.4(SEC23A):c.1370T>C (p.Leu457Ser)	SEC23A (L457S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317092	NM_006364.4(SEC23A):c.1352T>C (p.Leu451Pro)	SEC23A (L451P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2882573	NM_006364.4(SEC23A):c.1349_1350inv (p.Gly450Val)	SEC23A (G450V)	Inversion (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1614969	NM_006364.4(SEC23A):c.1308+18T>A	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1012118	NM_006364.4(SEC23A):c.1294T>C (p.Cys432Arg)	SEC23A (C432R)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1589801	NM_006364.4(SEC23A):c.1293C>T (p.Pro431=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 2720525	NM_006364.4(SEC23A):c.1274C>G (p.Ser425Ter)	SEC23A (S425*)	Single nucleotide variant (nonsense)	Craniolenticulosutural dysplasia	GUncertain significance

<< First< Prev

Page of 3