ClinVar for MedGen (Select 334671) - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362846	NM_006364.4(SEC23A):c.413G>T (p.Cys138Phe)	SEC23A (C138F)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GPathogenic
Select item 3021397	NM_006364.4(SEC23A):c.539G>A (p.Cys180Tyr)	SEC23A (C180Y)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 3008466	NM_006364.4(SEC23A):c.674C>T (p.Pro225Leu)	SEC23A (P225L)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2997293	NM_006364.4(SEC23A):c.222-17_222-13del	SEC23A	Microsatellite (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 2980323	NM_006364.4(SEC23A):c.481A>G (p.Thr161Ala)	SEC23A (T161A)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2961183	NM_006364.4(SEC23A):c.877C>G (p.Pro293Ala)	SEC23A (P293A)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2959459	NM_006364.4(SEC23A):c.489G>C (p.Leu163Phe)	SEC23A (L163F)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	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 2918885	NM_006364.4(SEC23A):c.808A>G (p.Ile270Val)	SEC23A (I270V)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	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 2819912	NM_006364.4(SEC23A):c.1504A>C (p.Asn502His)	SEC23A (N502H)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2811557	NM_006364.4(SEC23A):c.519T>G (p.Val173=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 2802989	NM_006364.4(SEC23A):c.2261del (p.Asp754fs)	SEC23A (D754fs)	Deletion (frameshift variant)	Craniolenticulosutural dysplasia	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 2780742	NM_006364.4(SEC23A):c.829-11T>C	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 2758827	NM_006364.4(SEC23A):c.1694del (p.Pro565fs)	SEC23A (P565fs)	Deletion (frameshift variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2741943	NM_006364.4(SEC23A):c.604-8C>G	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 2738281	NM_006364.4(SEC23A):c.948T>C (p.Ile316=)	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
Select item 2715411	NM_006364.4(SEC23A):c.1900-6C>T	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 2713804	NM_006364.4(SEC23A):c.371G>T (p.Gly124Val)	SEC23A (G124V)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2712714	NM_006364.4(SEC23A):c.516G>C (p.Met172Ile)	SEC23A (M172I)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2627671	NM_006364.4(SEC23A):c.59G>A (p.Ser20Asn)	SEC23A (S20N)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2435786	NM_006364.4(SEC23A):c.440T>C (p.Leu147Pro)	SEC23A (L147P)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	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 2201277	NM_006364.4(SEC23A):c.227T>C (p.Val76Ala)	SEC23A (V76A)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2189270	NM_006364.4(SEC23A):c.82C>T (p.Arg28Ter)	SEC23A (R28*)	Single nucleotide variant (nonsense)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2170475	NM_006364.4(SEC23A):c.1228-8T>C	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 2153081	NM_006364.4(SEC23A):c.222-17C>G	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 2110245	NM_006364.4(SEC23A):c.281T>C (p.Phe94Ser)	SEC23A (F94S)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 2100035	NM_006364.4(SEC23A):c.2208+20C>T	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
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 2060804	NM_006364.4(SEC23A):c.1458G>A (p.Gln486=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 2057292	NM_006364.4(SEC23A):c.222-8T>A	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 2050586	NM_006364.4(SEC23A):c.284C>T (p.Pro95Leu)	SEC23A (P95L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1981883	NM_006364.4(SEC23A):c.629C>T (p.Pro210Leu)	SEC23A (P210L)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1979970	NM_006364.4(SEC23A):c.745C>G (p.Arg249Gly)	SEC23A (R249G)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1977371	NM_006364.4(SEC23A):c.661C>G (p.Gln221Glu)	SEC23A (Q221E)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia +1 more	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 1661991	NM_006364.4(SEC23A):c.1737+20A>G	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1658513	NM_006364.4(SEC23A):c.903G>A (p.Val301=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1619149	NM_006364.4(SEC23A):c.579A>G (p.Lys193=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1614969	NM_006364.4(SEC23A):c.1308+18T>A	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1589801	NM_006364.4(SEC23A):c.1293C>T (p.Pro431=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1512765	NM_006364.4(SEC23A):c.995A>G (p.Glu332Gly)	SEC23A (E332G)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1487703	NM_006364.4(SEC23A):c.115G>A (p.Ala39Thr)	SEC23A (A39T)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1470225	NM_006364.4(SEC23A):c.487T>G (p.Leu163Val)	SEC23A (L163V)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
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 1426950	NM_006364.4(SEC23A):c.1460A>G (p.His487Arg)	SEC23A (H487R)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1405338	NM_006364.4(SEC23A):c.178_179del (p.Leu60fs)	SEC23A (L60fs)	Deletion (frameshift variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1402471	NM_006364.4(SEC23A):c.147_155del (p.Asp50_Pro52del)	SEC23A	Deletion (inframe_deletion)	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 1365777	NM_006364.4(SEC23A):c.175G>A (p.Val59Ile)	SEC23A (V59I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 1346764	NM_006364.4(SEC23A):c.2038A>G (p.Asn680Asp)	SEC23A (N680D)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia +1 more	GUncertain significance
Select item 1244399	NM_006364.4(SEC23A):c.1900-46A>T	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia +1 more	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 1167578	NM_006364.4(SEC23A):c.222-16dup	SEC23A	Duplication (intron variant)	Craniolenticulosutural dysplasia +1 more	GBenign
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 1138393	NM_006364.4(SEC23A):c.1875G>A (p.Ala625=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1122292	NM_006364.4(SEC23A):c.612G>A (p.Leu204=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1117277	NM_006364.4(SEC23A):c.507T>C (p.Phe169=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1102204	NM_006364.4(SEC23A):c.1626G>A (p.Val542=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1096299	NM_006364.4(SEC23A):c.360A>C (p.Val120=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1088328	NM_006364.4(SEC23A):c.129A>C (p.Thr43=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1084661	NM_006364.4(SEC23A):c.804T>C (p.Leu268=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 1054199	NM_006364.4(SEC23A):c.545G>A (p.Gly182Asp)	SEC23A (G182D)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1035662	NM_006364.4(SEC23A):c.478C>T (p.Pro160Ser)	SEC23A (P160S)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1033096	NM_006364.4(SEC23A):c.1123G>T (p.Asp375Tyr)	SEC23A (D375Y)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1024104	NM_006364.4(SEC23A):c.631C>A (p.Leu211Ile)	SEC23A (L211I)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
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 931175	NM_006364.4(SEC23A):c.1227+2T>G	SEC23A	Single nucleotide variant (splice donor variant)	Craniolenticulosutural dysplasia	GLikely pathogenic
Select item 791748	NM_006364.4(SEC23A):c.1900-10T>C	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GBenign
Select item 788183	NM_006364.4(SEC23A):c.2142+3_2142+4dup	SEC23A	Duplication (intron variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 771900	NM_006364.4(SEC23A):c.1092C>T (p.Pro364=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GBenign
Select item 732301	NM_006364.4(SEC23A):c.1906C>T (p.Leu636Phe)	SEC23A (L636F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 725508	NM_006364.4(SEC23A):c.2154C>T (p.Leu718=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 725412	NM_006364.4(SEC23A):c.1215G>A (p.Thr405=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 724170	NM_006364.4(SEC23A):c.255C>T (p.Cys85=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 715781	NM_006364.4(SEC23A):c.2166C>T (p.Val722=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 711718	NM_006364.4(SEC23A):c.1047G>A (p.Ala349=)	SEC23A	Single nucleotide variant (synonymous variant)	Craniolenticulosutural dysplasia	GLikely benign
Select item 710708	NM_006364.4(SEC23A):c.500T>C (p.Ile167Thr)	SEC23A (I167T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 683759	NM_006364.4(SEC23A):c.2209-13dup	SEC23A	Duplication (intron variant)	not provided +1 more	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 576528	NM_006364.4(SEC23A):c.2208+6T>A	SEC23A	Single nucleotide variant (intron variant)	Craniolenticulosutural dysplasia	GUncertain significance
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 39521	NM_006364.4(SEC23A):c.2104A>G (p.Met702Val)	SEC23A (M702V)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GUncertain significance
Select item 1228	NM_006364.4(SEC23A):c.1144T>C (p.Phe382Leu)	SEC23A (F382L)	Single nucleotide variant (missense variant)	Craniolenticulosutural dysplasia	GPathogenic

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Items: 88