"Ambry Genetics"[submitter] AND "STXBP5L"[gene] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2486349	NM_001308330.2(STXBP5L):c.109G>C (p.Val37Leu)	STXBP5L (V37L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592815	NM_001308330.2(STXBP5L):c.118G>T (p.Ala40Ser)	STXBP5L (A40S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225930	NM_001308330.2(STXBP5L):c.128C>T (p.Ala43Val)	STXBP5L (A43V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2513076	NM_001308330.2(STXBP5L):c.155A>C (p.Glu52Ala)	STXBP5L (E52A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545186	NM_001308330.2(STXBP5L):c.223G>A (p.Ala75Thr)	STXBP5L (A75T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376530	NM_001308330.2(STXBP5L):c.266C>T (p.Thr89Met)	STXBP5L (T89M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396363	NM_001308330.2(STXBP5L):c.442C>T (p.Leu148Phe)	STXBP5L (L148F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326223	NM_001308330.2(STXBP5L):c.447T>G (p.His149Gln)	STXBP5L (H149Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543445	NM_001308330.2(STXBP5L):c.455A>G (p.Lys152Arg)	STXBP5L (K152R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484351	NM_001308330.2(STXBP5L):c.464G>A (p.Arg155Gln)	STXBP5L (R155Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298984	NM_001308330.2(STXBP5L):c.535A>G (p.Thr179Ala)	STXBP5L (T179A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551014	NM_001308330.2(STXBP5L):c.722A>G (p.Lys241Arg)	STXBP5L (K241R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2222003	NM_001308330.2(STXBP5L):c.723A>C (p.Lys241Asn)	STXBP5L (K241N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219777	NM_001308330.2(STXBP5L):c.835C>G (p.Leu279Val)	STXBP5L (L279V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617201	NM_001308330.2(STXBP5L):c.1000G>T (p.Ala334Ser)	STXBP5L (A334S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334575	NM_001308330.2(STXBP5L):c.1021A>G (p.Thr341Ala)	STXBP5L (T341A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223971	NM_001308330.2(STXBP5L):c.1115T>G (p.Phe372Cys)	STXBP5L (F372C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258517	NM_001308330.2(STXBP5L):c.1267C>T (p.Pro423Ser)	STXBP5L (P423S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313348	NM_001308330.2(STXBP5L):c.1381C>T (p.Pro461Ser)	STXBP5L (P461S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2355766	NM_001308330.2(STXBP5L):c.1529T>C (p.Val510Ala)	STXBP5L (V510A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271838	NM_001308330.2(STXBP5L):c.1673G>A (p.Arg558Gln)	STXBP5L (R558Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238237	NM_001308330.2(STXBP5L):c.1687G>A (p.Val563Ile)	STXBP5L (V563I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2555205	NM_001308330.2(STXBP5L):c.1711C>G (p.Pro571Ala)	STXBP5L (P571A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2612076	NM_001308330.2(STXBP5L):c.1871A>G (p.Gln624Arg)	STXBP5L (Q624R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526503	NM_001308330.2(STXBP5L):c.1874C>T (p.Ala625Val)	STXBP5L (A625V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622667	NM_001308330.2(STXBP5L):c.1882G>T (p.Val628Phe)	STXBP5L (V628F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2351033	NM_001308330.2(STXBP5L):c.2095A>G (p.Lys699Glu)	STXBP5L (K699E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475611	NM_001308330.2(STXBP5L):c.2110+2351T>G	STXBP5L (L718V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2609776	NM_001308330.2(STXBP5L):c.2266C>T (p.Arg756Cys)	STXBP5L (R756C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2366104	NM_001308330.2(STXBP5L):c.2312C>G (p.Ala771Gly)	STXBP5L (A771G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300287	NM_001308330.2(STXBP5L):c.2315G>T (p.Cys772Phe)	STXBP5L (C772F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545187	NM_001308330.2(STXBP5L):c.2456G>A (p.Arg819Gln)	STXBP5L (R843Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518423	NM_001308330.2(STXBP5L):c.2561C>T (p.Thr854Ile)	STXBP5L (T854I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550982	NM_001308330.2(STXBP5L):c.2569G>A (p.Val857Ile)	STXBP5L (V857I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286729	NM_001308330.2(STXBP5L):c.2596C>T (p.Leu866Phe)	STXBP5L (L866F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550983	NM_001308330.2(STXBP5L):c.2602T>A (p.Leu868Met)	STXBP5L (L868M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529642	NM_001308330.2(STXBP5L):c.2713T>C (p.Trp905Arg)	STXBP5L (W929R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300288	NM_001308330.2(STXBP5L):c.2729T>C (p.Val910Ala)	STXBP5L (V934A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262983	NM_001308330.2(STXBP5L):c.2759T>C (p.Ile920Thr)	STXBP5L (I920T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2313937	NM_001308330.2(STXBP5L):c.2905T>C (p.Cys969Arg)	STXBP5L (C969R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408228	NM_001308330.2(STXBP5L):c.2928C>A (p.Asn976Lys)	STXBP5L (N1000K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2570069	NM_001308330.2(STXBP5L):c.2936T>C (p.Ile979Thr)	STXBP5L (I1003T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482027	NM_001308330.2(STXBP5L):c.2938A>C (p.Met980Leu)	STXBP5L (M980L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472714	NM_001308330.2(STXBP5L):c.2944A>G (p.Met982Val)	STXBP5L (M982V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395346	NM_001308330.2(STXBP5L):c.3032A>G (p.Asn1011Ser)	STXBP5L (N1011S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532025	NM_001308330.2(STXBP5L):c.3044C>T (p.Ala1015Val)	STXBP5L (A1015V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244404	NM_001308330.2(STXBP5L):c.3100T>A (p.Cys1034Ser)	STXBP5L (C1034S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403403	NM_001308330.2(STXBP5L):c.3341G>A (p.Arg1114His)	STXBP5L (R1114H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370407	NM_001308330.2(STXBP5L):c.3344C>T (p.Ala1115Val)	STXBP5L (A1139V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 49