STXBP5L[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	LOC129937275, LOC129937276 +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	LOC129937337, LOC129937338 +199 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 145353	GRCh38/hg38 3q13.33(chr3:120286468-121375425)x3	FSTL1, GTF2E1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 149283	GRCh38/hg38 3q13.33(chr3:120601884-121357490)x3	GTF2E1, HGD +11 more	Copy number gain	See cases	GUncertain significance
Select item 150584	GRCh38/hg38 3q13.33(chr3:120641434-121254322)x3	GTF2E1, HGD +10 more	Copy number gain	See cases	GUncertain significance
Select item 2633657	NM_001308330.2(STXBP5L):c.62G>A (p.Gly21Asp)	STXBP5L (G21D)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GUncertain significance
Select item 2486349	NM_001308330.2(STXBP5L):c.109G>C (p.Val37Leu)	STXBP5L (V37L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592815	NM_001308330.2(STXBP5L):c.118G>T (p.Ala40Ser)	STXBP5L (A40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225930	NM_001308330.2(STXBP5L):c.128C>T (p.Ala43Val)	STXBP5L (A43V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513076	NM_001308330.2(STXBP5L):c.155A>C (p.Glu52Ala)	STXBP5L (E52A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2545186	NM_001308330.2(STXBP5L):c.223G>A (p.Ala75Thr)	STXBP5L (A75T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171827	NM_001308330.2(STXBP5L):c.251T>G (p.Ile84Ser)	STXBP5L (I84S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376530	NM_001308330.2(STXBP5L):c.266C>T (p.Thr89Met)	STXBP5L (T89M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171830	NM_001308330.2(STXBP5L):c.310T>A (p.Cys104Ser)	STXBP5L (C104S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171834	NM_001308330.2(STXBP5L):c.431G>C (p.Arg144Thr)	STXBP5L (R144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396363	NM_001308330.2(STXBP5L):c.442C>T (p.Leu148Phe)	STXBP5L (L148F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326223	NM_001308330.2(STXBP5L):c.447T>G (p.His149Gln)	STXBP5L (H149Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543445	NM_001308330.2(STXBP5L):c.455A>G (p.Lys152Arg)	STXBP5L (K152R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484351	NM_001308330.2(STXBP5L):c.464G>A (p.Arg155Gln)	STXBP5L (R155Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 155241	GRCh38/hg38 3q13.33(chr3:121103990-121395004)x1	LOC129389118, STXBP5L	Copy number loss	See cases	GUncertain significance
Select item 3323491	NM_001308330.2(STXBP5L):c.498G>T (p.Gln166His)	STXBP5L (Q166H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298984	NM_001308330.2(STXBP5L):c.535A>G (p.Thr179Ala)	STXBP5L (T179A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323489	NM_001308330.2(STXBP5L):c.583A>C (p.Met195Leu)	STXBP5L (M195L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 285667	NM_001308330.2(STXBP5L):c.685G>T (p.Glu229Ter)	STXBP5L (E229*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2551014	NM_001308330.2(STXBP5L):c.722A>G (p.Lys241Arg)	STXBP5L (K241R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222003	NM_001308330.2(STXBP5L):c.723A>C (p.Lys241Asn)	STXBP5L (K241N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171835	NM_001308330.2(STXBP5L):c.748G>C (p.Asp250His)	STXBP5L (D250H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171836	NM_001308330.2(STXBP5L):c.834C>A (p.Asn278Lys)	STXBP5L (N278K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219777	NM_001308330.2(STXBP5L):c.835C>G (p.Leu279Val)	STXBP5L (L279V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709374	NM_001308330.2(STXBP5L):c.878-6del	STXBP5L	Deletion (intron variant)	not provided	GBenign
Select item 3171837	NM_001308330.2(STXBP5L):c.901A>G (p.Lys301Glu)	STXBP5L (K301E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171838	NM_001308330.2(STXBP5L):c.994G>A (p.Asp332Asn)	STXBP5L (D332N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617201	NM_001308330.2(STXBP5L):c.1000G>T (p.Ala334Ser)	STXBP5L (A334S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334575	NM_001308330.2(STXBP5L):c.1021A>G (p.Thr341Ala)	STXBP5L (T341A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171820	NM_001308330.2(STXBP5L):c.1099C>A (p.Pro367Thr)	STXBP5L (P367T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223971	NM_001308330.2(STXBP5L):c.1115T>G (p.Phe372Cys)	STXBP5L (F372C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 634493	NM_001308330.2(STXBP5L):c.1135G>A (p.Val379Met)	STXBP5L (V379M)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2258517	NM_001308330.2(STXBP5L):c.1267C>T (p.Pro423Ser)	STXBP5L (P423S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323488	NM_001308330.2(STXBP5L):c.1268C>T (p.Pro423Leu)	STXBP5L (P423L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313348	NM_001308330.2(STXBP5L):c.1381C>T (p.Pro461Ser)	STXBP5L (P461S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171821	NM_001308330.2(STXBP5L):c.1456C>G (p.Leu486Val)	STXBP5L (L486V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355766	NM_001308330.2(STXBP5L):c.1529T>C (p.Val510Ala)	STXBP5L (V510A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654062	NM_001308330.2(STXBP5L):c.1563C>T (p.Tyr521=)	STXBP5L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2271838	NM_001308330.2(STXBP5L):c.1673G>A (p.Arg558Gln)	STXBP5L (R558Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238237	NM_001308330.2(STXBP5L):c.1687G>A (p.Val563Ile)	STXBP5L (V563I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2555205	NM_001308330.2(STXBP5L):c.1711C>G (p.Pro571Ala)	STXBP5L (P571A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171822	NM_001308330.2(STXBP5L):c.1853G>A (p.Arg618Gln)	STXBP5L (R618Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612076	NM_001308330.2(STXBP5L):c.1871A>G (p.Gln624Arg)	STXBP5L (Q624R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526503	NM_001308330.2(STXBP5L):c.1874C>T (p.Ala625Val)	STXBP5L (A625V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622667	NM_001308330.2(STXBP5L):c.1882G>T (p.Val628Phe)	STXBP5L (V628F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323495	NM_001308330.2(STXBP5L):c.1937C>G (p.Ala646Gly)	STXBP5L (A646G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3038208	NM_001308330.2(STXBP5L):c.1959-10dup	STXBP5L	Duplication (intron variant)	STXBP5L-related disorder	GLikely benign
Select item 2351033	NM_001308330.2(STXBP5L):c.2095A>G (p.Lys699Glu)	STXBP5L (K699E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171825	NM_001308330.2(STXBP5L):c.2110+2324C>T	STXBP5L (R709C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475611	NM_001308330.2(STXBP5L):c.2110+2351T>G	STXBP5L (L718V)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3323490	NM_001308330.2(STXBP5L):c.2323A>G (p.Ile775Val)	STXBP5L (I775V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171826	NM_001308330.2(STXBP5L):c.2372G>A (p.Arg791His)	STXBP5L (R815H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 634494	NM_001308330.2(STXBP5L):c.2372G>C (p.Arg791Pro)	STXBP5L (R815P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not specified	GUncertain significance
Select item 3056299	NM_001308330.2(STXBP5L):c.2491G>A (p.Val831Ile)	STXBP5L (V831I +1 more)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GBenign
Select item 2518423	NM_001308330.2(STXBP5L):c.2561C>T (p.Thr854Ile)	STXBP5L (T854I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3049133	NM_001308330.2(STXBP5L):c.2613T>C (p.Ala871=)	STXBP5L	Single nucleotide variant (synonymous variant +1 more)	STXBP5L-related disorder	GLikely benign
Select item 3323494	NM_001308330.2(STXBP5L):c.2623T>C (p.Phe875Leu)	STXBP5L (F875L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171828	NM_001308330.2(STXBP5L):c.2639G>C (p.Arg880Pro)	STXBP5L (R880P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3171829	NM_001308330.2(STXBP5L):c.2774A>G (p.Tyr925Cys)	STXBP5L (Y949C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3029147	NM_001308330.2(STXBP5L):c.2834T>C (p.Leu945Pro)	STXBP5L (L945P +1 more)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GUncertain significance
Select item 3323487	NM_001308330.2(STXBP5L):c.2866A>T (p.Ile956Leu)	STXBP5L (I956L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051762	NM_001308330.2(STXBP5L):c.2902G>A (p.Ala968Thr)	STXBP5L (A968T +1 more)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GLikely benign
Select item 2313937	NM_001308330.2(STXBP5L):c.2905T>C (p.Cys969Arg)	STXBP5L (C969R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3323492	NM_001308330.2(STXBP5L):c.2951T>C (p.Leu984Pro)	STXBP5L (L984P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323493	NM_001308330.2(STXBP5L):c.2957G>A (p.Ser986Asn)	STXBP5L (S986N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051920	NM_001308330.2(STXBP5L):c.2986T>C (p.Leu996=)	STXBP5L	Single nucleotide variant (synonymous variant +1 more)	STXBP5L-related disorder	GLikely benign
Select item 2395346	NM_001308330.2(STXBP5L):c.3032A>G (p.Asn1011Ser)	STXBP5L (N1011S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 266019	NM_001308330.2(STXBP5L):c.3055G>A (p.Val1019Ile)	STXBP5L (V1043I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not specified	GUncertain significance
Select item 3034247	NM_001308330.2(STXBP5L):c.3120G>A (p.Met1040Ile)	STXBP5L (M1040I +1 more)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GLikely benign
Select item 3171831	NM_001308330.2(STXBP5L):c.3199G>A (p.Gly1067Arg)	STXBP5L (G1091R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058314	NM_001308330.2(STXBP5L):c.3240G>A (p.Ser1080=)	STXBP5L	Single nucleotide variant (synonymous variant +1 more)	STXBP5L-related disorder	GLikely benign
Select item 3048778	NM_001308330.2(STXBP5L):c.3283C>T (p.Pro1095Ser)	STXBP5L (P1095S +1 more)	Single nucleotide variant (missense variant +1 more)	STXBP5L-related disorder	GLikely benign

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