ClinVar for Gene (Select 10484) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3054234	NM_006364.4(SEC23A):c.2061C>A (p.Ala687=)	SEC23A	Single nucleotide variant (synonymous variant)	SEC23A-related condition	GLikely benign
Select item 3051417	NM_006364.4(SEC23A):c.13T>C (p.Leu5=)	SEC23A	Single nucleotide variant (synonymous variant)	SEC23A-related condition	GLikely benign
Select item 3044561	NM_006364.4(SEC23A):c.199C>T (p.Arg67Cys)	SEC23A (R67C)	Single nucleotide variant (missense variant)	SEC23A-related condition	GLikely benign
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 2685484	GRCh37/hg19 14q21.1(chr14:39312661-40883686)x1	FBXO33, GEMIN2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684722	GRCh37/hg19 14q21.1(chr14:39316403-39743319)x3	GEMIN2, MIA2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
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 2606013	NM_006364.4(SEC23A):c.523G>A (p.Val175Ile)	SEC23A (V175I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558627	NM_006364.4(SEC23A):c.1837A>T (p.Thr613Ser)	SEC23A (T613S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555517	NM_006364.4(SEC23A):c.109C>T (p.Pro37Ser)	SEC23A (P37S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526880	NM_006364.4(SEC23A):c.1856T>C (p.Ile619Thr)	SEC23A (I619T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518339	NM_006364.4(SEC23A):c.2044C>T (p.Arg682Cys)	SEC23A (R682C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473422	NM_006364.4(SEC23A):c.1607C>T (p.Thr536Ile)	SEC23A (T536I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462808	NM_006364.4(SEC23A):c.1813C>T (p.His605Tyr)	SEC23A (H605Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2412579	NM_006364.4(SEC23A):c.1583G>A (p.Arg528Gln)	SEC23A (R528Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399948	NM_006364.4(SEC23A):c.1427G>A (p.Arg476His)	SEC23A (R476H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2325558	NM_006364.4(SEC23A):c.707T>C (p.Ile236Thr)	SEC23A (I236T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295278	NM_006364.4(SEC23A):c.1054T>G (p.Leu352Val)	SEC23A (L352V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294049	NM_006364.4(SEC23A):c.1894C>T (p.Pro632Ser)	SEC23A (P632S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286422	NM_006364.4(SEC23A):c.652C>G (p.Pro218Ala)	SEC23A (P218A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271517	NM_006364.4(SEC23A):c.1370T>C (p.Leu457Ser)	SEC23A (L457S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223798	NM_006364.4(SEC23A):c.367C>T (p.Arg123Cys)	SEC23A (R123C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Craniolenticulosutural dysplasia +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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1808661	GRCh37/hg19 14q21.1(chr14:39227600-39505879)x3	SEC23A	Copy number gain	not provided	GUncertain significance
Select item 1808082	GRCh37/hg19 14q13.3-21.1(chr14:37486532-39796638)x1	CLEC14A, FOXA1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1706712	NM_006364.4(SEC23A):c.1737+69A>G	SEC23A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
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 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
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 1527809	GRCh37/hg19 14q13.3-21.1(chr14:36862276-41597549)	CLEC14A, FBXO33 +14 more	Copy number loss	not specified	GPathogenic
Select item 1527808	GRCh37/hg19 14q13.2-21.1(chr14:35850213-40138562)	BRMS1L, CLEC14A +20 more	Copy number loss	not specified	GPathogenic
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)	Craniolenticulosutural dysplasia	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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1326167	NM_006364.4(SEC23A):c.828+72_828+73insTGTGTGTA	SEC23A	Insertion (intron variant)	not provided	GLikely benign
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 1309243	NM_006364.4(SEC23A):c.2051T>G (p.Leu684Arg)	SEC23A (L684R)	Single nucleotide variant (missense variant)	not provided	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 1307957	NM_006364.4(SEC23A):c.1486G>A (p.Val496Met)	SEC23A (V496M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291778	NM_006364.4(SEC23A):c.828+33GT[19]	SEC23A	Microsatellite (intron variant)	not provided	GBenign
Select item 1291639	NM_006364.4(SEC23A):c.1987-82A>G	SEC23A	Single nucleotide variant (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 1288369	NM_006364.4(SEC23A):c.-21-259G>A	SEC23A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287483	NM_006364.4(SEC23A):c.1399-206A>G	SEC23A	Single nucleotide variant (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 1283791	NM_006364.4(SEC23A):c.1506-129dup	SEC23A	Duplication (intron variant)	not provided	GBenign
Select item 1283462	NM_006364.4(SEC23A):c.1900-38del	SEC23A	Deletion (intron variant)	not provided	GBenign
Select item 1283041	NM_006364.4(SEC23A):c.2209-95_2209-94insATTGTTCT	SEC23A	Insertion (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 1280779	NM_006364.4(SEC23A):c.222-250A>G	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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