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	LOC130006570, LOC130006571 +474 more	Copy number loss	See cases	GPathogenic
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +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 +51 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 3173096	NM_206927.4(SYTL2):c.6659A>G (p.Asn2220Ser)	SYTL2 (N2016S +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393463	NM_206927.4(SYTL2):c.6642G>T (p.Lys2214Asn)	SYTL2 (K2010N +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363892	NM_206927.4(SYTL2):c.6640A>G (p.Lys2214Glu)	SYTL2 (K2214E +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173095	NM_206927.4(SYTL2):c.6557G>A (p.Arg2186His)	SYTL2 (R2143H +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324093	NM_206927.4(SYTL2):c.6556C>T (p.Arg2186Cys)	SYTL2 (R2142C +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473421	NM_206927.4(SYTL2):c.6553C>A (p.Leu2185Ile)	SYTL2 (L1981I +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470617	NM_206927.4(SYTL2):c.6401G>A (p.Arg2134His)	SYTL2 (R150H +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368633	NM_206927.4(SYTL2):c.6379C>T (p.Pro2127Ser)	SYTL2 (P156S +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173093	NM_206927.4(SYTL2):c.6312G>C (p.Lys2104Asn)	SYTL2 (K190N +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540617	NM_206927.4(SYTL2):c.6298C>T (p.His2100Tyr)	SYTL2 (H116Y +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173092	NM_206927.4(SYTL2):c.6286A>G (p.Thr2096Ala)	SYTL2 (T125A +34 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173091	NM_206927.4(SYTL2):c.6185G>A (p.Arg2062Gln)	SYTL2 (R148Q +29 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173090	NM_206927.4(SYTL2):c.6176C>T (p.Pro2059Leu)	SYTL2 (P196L +29 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3324078	NM_206927.4(SYTL2):c.6092G>A (p.Arg2031His)	SYTL2 (R128H +29 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3324080	NM_206927.4(SYTL2):c.6051G>C (p.Gln2017His)	SYTL2 (Q114H +29 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3173089	NM_206927.4(SYTL2):c.5905C>T (p.Arg1969Cys)	SYTL2 (R1926C +28 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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 3324081	NM_206927.4(SYTL2):c.5702T>C (p.Leu1901Ser)	SYTL2 (L1857S +21 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	not specified	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)	not specified	GUncertain significance
Select item 3173088	NM_206927.4(SYTL2):c.5552C>A (p.Pro1851His)	SYTL2 (P1850H +19 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	GUncertain significance
Select item 3324077	NM_206927.4(SYTL2):c.5426C>T (p.Ser1809Leu)	SYTL2 (S1781L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465460	NM_206927.4(SYTL2):c.5399G>A (p.Ser1800Asn)	SYTL2 (S1799N +10 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3173084	NM_206927.4(SYTL2):c.5294G>C (p.Ser1765Thr)	SYTL2 (S1737T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324083	NM_206927.4(SYTL2):c.5270C>G (p.Ser1757Cys)	SYTL2 (S1757C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3173083	NM_206927.4(SYTL2):c.5257G>A (p.Gly1753Ser)	SYTL2 (G1753S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173082	NM_206927.4(SYTL2):c.5219C>T (p.Ser1740Leu)	SYTL2 (S1713L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3324092	NM_206927.4(SYTL2):c.5207T>C (p.Leu1736Ser)	SYTL2 (L1736S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173081	NM_206927.4(SYTL2):c.5092C>G (p.Leu1698Val)	SYTL2 (L1671V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365905	NM_206927.4(SYTL2):c.5066G>T (p.Ser1689Ile)	SYTL2 (S1662I +3 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3324082	NM_206927.4(SYTL2):c.5041C>A (p.Pro1681Thr)	SYTL2 (P1653T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3324089	NM_206927.4(SYTL2):c.4976T>C (p.Val1659Ala)	SYTL2 (V1631A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173080	NM_206927.4(SYTL2):c.4930C>T (p.Leu1644Phe)	SYTL2 (L1643F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324084	NM_206927.4(SYTL2):c.4918G>A (p.Gly1640Arg)	SYTL2 (G1612R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3173079	NM_206927.4(SYTL2):c.4889C>T (p.Ser1630Phe)	SYTL2 (S1602F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3173078	NM_206927.4(SYTL2):c.4828C>T (p.His1610Tyr)	SYTL2 (H1610Y +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3324086	NM_206927.4(SYTL2):c.4675A>G (p.Ile1559Val)	SYTL2 (I1558V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2371336	NM_206927.4(SYTL2):c.4667C>G (p.Ala1556Gly)	SYTL2 (A1529G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483622	NM_206927.4(SYTL2):c.4651G>A (p.Val1551Ile)	SYTL2 (V1550I +3 more)	Single nucleotide variant (intron variant +1 more)	not specified	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 3173077	NM_206927.4(SYTL2):c.4627C>T (p.His1543Tyr)	SYTL2 (H1542Y +3 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2516842	NM_206927.4(SYTL2):c.4619C>T (p.Ser1540Phe)	SYTL2 (S1512F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3324091	NM_206927.4(SYTL2):c.4571C>G (p.Ser1524Cys)	SYTL2 (S1523C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324094	NM_206927.4(SYTL2):c.4567C>G (p.Leu1523Val)	SYTL2 (L1522V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283619	NM_206927.4(SYTL2):c.4493G>A (p.Ser1498Asn)	SYTL2 (S1498N +3 more)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3173076	NM_206927.4(SYTL2):c.4479G>T (p.Glu1493Asp)	SYTL2 (E1465D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3173075	NM_206927.4(SYTL2):c.4456A>G (p.Thr1486Ala)	SYTL2 (T1459A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3173073	NM_206927.4(SYTL2):c.4310A>G (p.Asn1437Ser)	SYTL2 (N1409S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260321	NM_206927.4(SYTL2):c.4208C>T (p.Ala1403Val)	SYTL2 (A1402V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173072	NM_206927.4(SYTL2):c.4177C>T (p.Pro1393Ser)	SYTL2 (P1392S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173071	NM_206927.4(SYTL2):c.4001C>T (p.Pro1334Leu)	SYTL2 (P1307L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173070	NM_206927.4(SYTL2):c.4000C>T (p.Pro1334Ser)	SYTL2 (P1307S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2493703	NM_206927.4(SYTL2):c.3986A>G (p.Gln1329Arg)	SYTL2 (Q1302R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3324088	NM_206927.4(SYTL2):c.3897T>G (p.Ile1299Met)	SYTL2 (I1299M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 3173101	NM_206927.4(SYTL2):c.3839C>T (p.Thr1280Ile)	SYTL2 (T1252I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3173100	NM_206927.4(SYTL2):c.3759A>G (p.Ile1253Met)	SYTL2 (I1225M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324074	NM_206927.4(SYTL2):c.3720C>G (p.Asn1240Lys)	SYTL2 (N1213K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not provided +1 more	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)	not specified	GUncertain significance
Select item 3173098	NM_206927.4(SYTL2):c.3577G>A (p.Glu1193Lys)	SYTL2 (E1192K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324095	NM_206927.4(SYTL2):c.3571A>G (p.Ile1191Val)	SYTL2 (I1190V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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