"Ambry Genetics"[submitter] AND "SEC24C"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2623939	NM_198597.3(SEC24C):c.40G>C (p.Gly14Arg)	SEC24C (G14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317133	NM_198597.3(SEC24C):c.128C>T (p.Ala43Val)	SEC24C (A43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159305	NM_198597.3(SEC24C):c.131A>G (p.Tyr44Cys)	SEC24C (Y44C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317131	NM_198597.3(SEC24C):c.184G>A (p.Ala62Thr)	SEC24C (A62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282390	NM_198597.3(SEC24C):c.284C>G (p.Pro95Arg)	SEC24C (P95R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159318	NM_198597.3(SEC24C):c.292A>G (p.Thr98Ala)	SEC24C (T98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400186	NM_198597.3(SEC24C):c.317G>A (p.Gly106Glu)	SEC24C (G106E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159323	NM_198597.3(SEC24C):c.422C>A (p.Ser141Tyr)	SEC24C (S141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624143	NM_198597.3(SEC24C):c.430C>G (p.Gln144Glu)	SEC24C (Q144E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380866	NM_198597.3(SEC24C):c.439G>A (p.Gly147Ser)	SEC24C (G147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517203	NM_198597.3(SEC24C):c.463T>C (p.Ser155Pro)	LOC130004086, SEC24C (S155P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3159324	NM_198597.3(SEC24C):c.491C>T (p.Thr164Ile)	SEC24C (T164I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350830	NM_198597.3(SEC24C):c.526T>A (p.Ser176Thr)	SEC24C (S176T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375254	NM_198597.3(SEC24C):c.542C>G (p.Ser181Cys)	SEC24C (S181C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159325	NM_198597.3(SEC24C):c.611G>A (p.Arg204Gln)	SEC24C (R204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249967	NM_198597.3(SEC24C):c.872G>T (p.Gly291Val)	SEC24C (G291V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459236	NM_198597.3(SEC24C):c.941A>C (p.Gln314Pro)	SEC24C (Q314P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317139	NM_198597.3(SEC24C):c.986C>T (p.Pro329Leu)	SEC24C (P329L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317138	NM_198597.3(SEC24C):c.1024A>G (p.Thr342Ala)	SEC24C (T342A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159306	NM_198597.3(SEC24C):c.1321G>A (p.Gly441Arg)	SEC24C (G441R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373518	NM_198597.3(SEC24C):c.1327A>G (p.Arg443Gly)	SEC24C (R443G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455621	NM_198597.3(SEC24C):c.1330C>T (p.Arg444Cys)	SEC24C (R444C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159307	NM_198597.3(SEC24C):c.1469T>C (p.Val490Ala)	SEC24C (V490A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378290	NM_198597.3(SEC24C):c.1486A>G (p.Asn496Asp)	SEC24C (N496D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235031	NM_198597.3(SEC24C):c.1529T>C (p.Val510Ala)	SEC24C (V510A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159308	NM_198597.3(SEC24C):c.1563G>C (p.Arg521Ser)	SEC24C (R521S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159309	NM_198597.3(SEC24C):c.1616G>A (p.Gly539Glu)	SEC24C (G539E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216006	NM_198597.3(SEC24C):c.1637G>A (p.Arg546His)	SEC24C (R546H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260631	NM_198597.3(SEC24C):c.1655A>G (p.Tyr552Cys)	SEC24C (Y552C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159311	NM_198597.3(SEC24C):c.1771G>A (p.Val591Ile)	SEC24C (V591I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604119	NM_198597.3(SEC24C):c.1960A>G (p.Lys654Glu)	SEC24C (K654E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317134	NM_198597.3(SEC24C):c.2126T>A (p.Leu709His)	SEC24C (L709H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159312	NM_198597.3(SEC24C):c.2191G>A (p.Asp731Asn)	SEC24C (D731N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523485	NM_198597.3(SEC24C):c.2201G>A (p.Arg734Gln)	SEC24C (R734Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391366	NM_198597.3(SEC24C):c.2219G>A (p.Arg740His)	SEC24C (R740H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312752	NM_198597.3(SEC24C):c.2257A>G (p.Met753Val)	SEC24C (M753V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317136	NM_198597.3(SEC24C):c.2281A>G (p.Ile761Val)	SEC24C (I761V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317130	NM_198597.3(SEC24C):c.2371G>T (p.Val791Leu)	SEC24C (V791L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294485	NM_198597.3(SEC24C):c.2379C>A (p.Phe793Leu)	SEC24C (F793L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317137	NM_198597.3(SEC24C):c.2385T>G (p.His795Gln)	SEC24C (H795Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159313	NM_198597.3(SEC24C):c.2392C>T (p.Arg798Trp)	SEC24C (R798W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619946	NM_198597.3(SEC24C):c.2393G>A (p.Arg798Gln)	SEC24C (R798Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264106	NM_198597.3(SEC24C):c.2398A>G (p.Asn800Asp)	SEC24C (N800D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554526	NM_198597.3(SEC24C):c.2494T>C (p.Cys832Arg)	SEC24C (C832R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521274	NM_198597.3(SEC24C):c.2494T>G (p.Cys832Gly)	SEC24C (C832G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593659	NM_198597.3(SEC24C):c.2587C>T (p.Pro863Ser)	SEC24C (P863S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317135	NM_198597.3(SEC24C):c.2602C>G (p.Arg868Gly)	SEC24C (R868G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159314	NM_198597.3(SEC24C):c.2602C>T (p.Arg868Cys)	SEC24C (R868C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275934	NM_198597.3(SEC24C):c.2602C>A (p.Arg868Ser)	SEC24C (R868S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159315	NM_198597.3(SEC24C):c.2614A>T (p.Ile872Phe)	SEC24C (I872F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159316	NM_198597.3(SEC24C):c.2836T>G (p.Phe946Val)	SEC24C (F946V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317141	NM_198597.3(SEC24C):c.2930A>G (p.Asn977Ser)	SEC24C (N977S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159319	NM_198597.3(SEC24C):c.2930A>T (p.Asn977Ile)	SEC24C (N977I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317132	NM_198597.3(SEC24C):c.2994A>C (p.Gln998His)	SEC24C (Q998H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618483	NM_198597.3(SEC24C):c.3026C>G (p.Ser1009Cys)	SEC24C (S1009C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159320	NM_198597.3(SEC24C):c.3068T>G (p.Val1023Gly)	SEC24C (V1023G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470861	NM_198597.3(SEC24C):c.3154G>T (p.Val1052Leu)	SEC24C (V1052L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290912	NM_198597.3(SEC24C):c.3168C>G (p.Asp1056Glu)	SEC24C (D1056E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159321	NM_198597.3(SEC24C):c.3196C>G (p.Leu1066Val)	SEC24C (L1066V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310563	NM_198597.3(SEC24C):c.3220G>T (p.Gly1074Trp)	SEC24C (G1074W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

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Items: 60