SYTL2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144356	GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	CHORDC1, GDPD4 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	LINC02553, LINC02700 +528 more	Copy number loss	See cases	GPathogenic
Select item 59771	GRCh38/hg38 11q14.1-14.2(chr11:78362208-86165380)x3	ANKRD42, ANKRD42-DT +117 more	Copy number gain	See cases	GPathogenic
Select item 150919	GRCh38/hg38 11q14.1-14.2(chr11:84765986-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 144652	GRCh38/hg38 11q14.1-14.2(chr11:84828513-86641208)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 160941	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 33851	GRCh38/hg38 11q14.1-14.2(chr11:84828563-86641166)x3	CCDC81, CCDC83 +50 more	Copy number gain	See cases	GUncertain significance
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 2393463	NM_206927.4(SYTL2):c.6642G>T (p.Lys2214Asn)	SYTL2 (K2010N +34 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363892	NM_206927.4(SYTL2):c.6640A>G (p.Lys2214Glu)	SYTL2 (K2214E +34 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473421	NM_206927.4(SYTL2):c.6553C>A (p.Leu2185Ile)	SYTL2 (L1981I +34 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470617	NM_206927.4(SYTL2):c.6401G>A (p.Arg2134His)	SYTL2 (R150H +34 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368633	NM_206927.4(SYTL2):c.6379C>T (p.Pro2127Ser)	SYTL2 (P156S +34 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540617	NM_206927.4(SYTL2):c.6298C>T (p.His2100Tyr)	SYTL2 (H116Y +34 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607398	NM_206927.4(SYTL2):c.6152A>T (p.Gln2051Leu)	SYTL2 (Q2034L +29 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526130	NM_206927.4(SYTL2):c.6115G>A (p.Glu2039Lys)	SYTL2 (E176K +29 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289137	NM_206927.4(SYTL2):c.6091C>T (p.Arg2031Cys)	SYTL2 (R1988C +29 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642240	NM_206927.4(SYTL2):c.6006C>T (p.Asn2002=)	SYTL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2384319	NM_206927.4(SYTL2):c.5906G>A (p.Arg1969His)	SYTL2 (R106H +28 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2486887	NM_206927.4(SYTL2):c.5810T>C (p.Ile1937Thr)	SYTL2 (I1921T +27 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2642241	NM_206927.4(SYTL2):c.5746-7C>T	SYTL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 714262	NM_206927.4(SYTL2):c.5685G>C (p.Lys1895Asn)	SYTL2 (K21N +21 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2365442	NM_206927.4(SYTL2):c.5622T>G (p.Asp1874Glu)	SYTL2 (D1830E +20 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2234020	NM_206927.4(SYTL2):c.5614C>G (p.Leu1872Val)	SYTL2 (L1828V +20 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2342155	NM_206927.4(SYTL2):c.5468G>A (p.Arg1823His)	SYTL2 (R486H +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465460	NM_206927.4(SYTL2):c.5399G>A (p.Ser1800Asn)	SYTL2 (S1799N +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710448	NM_206927.4(SYTL2):c.5375C>A (p.Ala1792Asp)	SYTL2 (A1791D +10 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2286348	NM_206927.4(SYTL2):c.5360C>T (p.Thr1787Ile)	SYTL2 (T1760I +10 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402468	NM_206927.4(SYTL2):c.5303C>T (p.Ala1768Val)	SYTL2 (A1767V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410001	NM_206927.4(SYTL2):c.5267A>T (p.Glu1756Val)	SYTL2 (E1729V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386025	NM_206927.4(SYTL2):c.5210C>T (p.Thr1737Ile)	SYTL2 (T1737I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2292731	NM_206927.4(SYTL2):c.5210C>G (p.Thr1737Ser)	SYTL2 (T1736S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365905	NM_206927.4(SYTL2):c.5066G>T (p.Ser1689Ile)	SYTL2 (S1662I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546747	NM_206927.4(SYTL2):c.5035G>A (p.Val1679Ile)	SYTL2 (V1652I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2222551	NM_206927.4(SYTL2):c.4994C>T (p.Pro1665Leu)	SYTL2 (P1664L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394227	NM_206927.4(SYTL2):c.4913T>C (p.Met1638Thr)	SYTL2 (M1611T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2335131	NM_206927.4(SYTL2):c.4841C>T (p.Ala1614Val)	SYTL2 (A1586V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259267	NM_206927.4(SYTL2):c.4736C>A (p.Pro1579His)	SYTL2 (P1578H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543211	NM_206927.4(SYTL2):c.4683G>T (p.Glu1561Asp)	SYTL2 (E1533D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2371336	NM_206927.4(SYTL2):c.4667C>G (p.Ala1556Gly)	SYTL2 (A1529G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483622	NM_206927.4(SYTL2):c.4651G>A (p.Val1551Ile)	SYTL2 (V1550I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642242	NM_206927.4(SYTL2):c.4641A>G (p.Leu1547=)	SYTL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2516842	NM_206927.4(SYTL2):c.4619C>T (p.Ser1540Phe)	SYTL2 (S1512F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2622080	NM_206927.4(SYTL2):c.4613C>A (p.Ala1538Asp)	SYTL2 (A1511D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220852	NM_206927.4(SYTL2):c.4587A>G (p.Ile1529Met)	SYTL2 (I1501M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283619	NM_206927.4(SYTL2):c.4493G>A (p.Ser1498Asn)	SYTL2 (S1498N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468047	NM_206927.4(SYTL2):c.4459A>G (p.Ile1487Val)	SYTL2 (I1459V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2472155	NM_206927.4(SYTL2):c.4430A>G (p.Gln1477Arg)	SYTL2 (Q1450R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359581	NM_206927.4(SYTL2):c.4379C>T (p.Thr1460Met)	SYTL2 (T1432M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594742	NM_206927.4(SYTL2):c.4375C>A (p.Gln1459Lys)	SYTL2 (Q1431K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260321	NM_206927.4(SYTL2):c.4208C>T (p.Ala1403Val)	SYTL2 (A1402V +3 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493703	NM_206927.4(SYTL2):c.3986A>G (p.Gln1329Arg)	SYTL2 (Q1302R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363850	NM_206927.4(SYTL2):c.3968A>T (p.Asp1323Val)	SYTL2 (D1296V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531057	NM_206927.4(SYTL2):c.3921T>G (p.His1307Gln)	SYTL2 (H1306Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2606685	NM_206927.4(SYTL2):c.3888G>C (p.Gln1296His)	SYTL2 (Q1295H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387221	NM_206927.4(SYTL2):c.3785A>T (p.Asp1262Val)	SYTL2 (D1262V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319376	NM_206927.4(SYTL2):c.3773A>G (p.Asn1258Ser)	SYTL2 (N1258S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345484	NM_206927.4(SYTL2):c.3686A>C (p.Gln1229Pro)	SYTL2 (Q1202P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2277643	NM_206927.4(SYTL2):c.3590A>C (p.Lys1197Thr)	SYTL2 (K1197T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395298	NM_206927.4(SYTL2):c.3391A>G (p.Thr1131Ala)	SYTL2 (T1130A +3 more)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404948	NM_206927.4(SYTL2):c.3376A>G (p.Lys1126Glu)	SYTL2 (K1099E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519313	NM_206927.4(SYTL2):c.3322G>T (p.Asp1108Tyr)	SYTL2 (D1080Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480879	NM_206927.4(SYTL2):c.3184G>T (p.Val1062Leu)	SYTL2 (V1035L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2515155	NM_206927.4(SYTL2):c.3133G>T (p.Val1045Phe)	SYTL2 (V1044F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374448	NM_206927.4(SYTL2):c.3076A>G (p.Ile1026Val)	SYTL2 (I1025V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2642243	NM_206927.4(SYTL2):c.2535C>A (p.Asp845Glu)	SYTL2 (D817E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2642244	NM_206927.4(SYTL2):c.2213G>C (p.Gly738Ala)	SYTL2 (G710A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2642245	NM_206927.4(SYTL2):c.2130A>G (p.Ser710=)	SYTL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2642246	NM_206927.4(SYTL2):c.1960A>G (p.Lys654Glu)	SYTL2 (K626E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 768470	NM_206927.4(SYTL2):c.1469C>T (p.Pro490Leu)	SYTL2 (P489L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2308341	NM_206927.4(SYTL2):c.1385C>T (p.Pro462Leu)	SYTL2 (P387L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295869	NM_206927.4(SYTL2):c.1357A>T (p.Arg453Trp)	SYTL2 (R378W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355553	NM_206927.4(SYTL2):c.1274C>T (p.Ser425Leu)	SYTL2 (S398L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311043	NM_206927.4(SYTL2):c.1186T>C (p.Ser396Pro)	SYTL2 (S321P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269482	NM_206927.4(SYTL2):c.1172C>T (p.Ser391Leu)	SYTL2 (S342L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2358786	NM_206927.4(SYTL2):c.1148A>G (p.Lys383Arg)	SYTL2 (K334R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782299	NM_206927.4(SYTL2):c.1136A>G (p.Gln379Arg)	SYTL2 (Q378R +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2269536	NM_206927.4(SYTL2):c.1054C>T (p.Arg352Trp)	SYTL2 (R351W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384465	NM_206927.4(SYTL2):c.1033A>G (p.Ser345Gly)	SYTL2 (S296G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289234	NM_206927.4(SYTL2):c.1010C>A (p.Ala337Glu)	SYTL2 (A262E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242110	NM_206927.4(SYTL2):c.997G>A (p.Val333Met)	SYTL2 (V258M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278214	NM_206927.4(SYTL2):c.931A>T (p.Ile311Phe)	SYTL2 (I262F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516841	NM_206927.4(SYTL2):c.917C>G (p.Thr306Ser)	SYTL2 (T231S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375385	NM_206927.4(SYTL2):c.893del (p.Ser298fs)	SYTL2 (S249fs +5 more)	Deletion (frameshift variant)	Angioedema	GUncertain significance
Select item 2461021	NM_206927.4(SYTL2):c.827G>T (p.Arg276Leu)	SYTL2 (R248L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313737	NM_206927.4(SYTL2):c.494G>A (p.Ser165Asn)	SYTL2 (S165N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784201	NM_206927.4(SYTL2):c.486G>A (p.Pro162=)	SYTL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2594403	NM_206927.4(SYTL2):c.343G>C (p.Gly115Arg)	SYTL2 (G67R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248350	NM_206927.4(SYTL2):c.332C>T (p.Pro111Leu)	SYTL2 (P63L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340991	NM_206927.4(SYTL2):c.289G>C (p.Glu97Gln)	SYTL2 (E49Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2590211	NM_206927.4(SYTL2):c.272G>A (p.Arg91Lys)	SYTL2 (R43K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558400	NM_206927.4(SYTL2):c.146T>C (p.Met49Thr)	SYTL2 (M49T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205712	NM_206927.4(SYTL2):c.85G>A (p.Glu29Lys)	SYTL2 (E29K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2562517	NM_206927.4(SYTL2):c.71C>T (p.Ala24Val)	SYTL2 (A24V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518583	NM_206927.4(SYTL2):c.64G>A (p.Asp22Asn)	SYTL2 (D22N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2315677	NM_206927.4(SYTL2):c.40G>C (p.Ala14Pro)	SYTL2 (A14P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427027	NC_000011.9:g.(?_85339652)_(86666127_?)del	CCDC81, CCDC83 +11 more	Deletion	not provided	GPathogenic
Select item 1809349	GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	AMOTL1, ANGPTL5 +93 more	Copy number loss	not provided	GPathogenic
Select item 1808656	GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1	ANKRD42, CCDC81 +23 more	Copy number loss	not provided	GPathogenic
Select item 1807938	GRCh37/hg19 11q14.1-14.2(chr11:85446871-85629741)x1	CCDC83, SYTL2	Copy number loss	not provided	GUncertain significance

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