SYT2

synaptotagmin 2

Summary

This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Known Variants223 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs200863770	1:202,565,868	G/A	—	benign
rs200149183	1:202,565,891	G/A	—	benign
rs777502238	1:202,565,903	G/A	—	likely benign
rs142804180	1:202,565,907	G/A	—	conflicting classifications of pathogenicity
rs1453017252	1:202,565,911	C/T	—	uncertain significance
rs2526933605	1:202,565,915	C/G	—	uncertain significance
rs748198461	1:202,565,930	G/C	—	likely benign
rs504261	1:202,565,948	G/A	—	benign
rs1456876539	1:202,565,951	G/A	—	likely benign
rs911413010	1:202,565,958	C/T	—	uncertain significance
rs373155359	1:202,565,978	G/A	—	likely benign
rs1399437693	1:202,565,988	C/T	—	uncertain significance
rs763683640	1:202,566,002	C/T	—	likely benign
rs377756166	1:202,566,003	G/A	—	uncertain significance
rs2526934669	1:202,566,017	C/T	—	likely benign
rs139376371	1:202,566,020	G/A	—	likely benign
rs1690318147	1:202,566,033	A/T	—	pathogenic
rs145534872	1:202,566,041	G/A	—	likely benign
rs2149063983	1:202,566,042	T/G	—	uncertain significance
rs755872338	1:202,566,043	T/C	—	uncertain significance
rs2149064005	1:202,566,051	A/G	—	pathogenic
rs1572604296	1:202,566,064	C/G	—	uncertain significance
rs1690319320	1:202,566,070	C/T	—	uncertain significance
rs2149064067	1:202,566,085	G/A	—	uncertain significance
rs1690320268	1:202,566,094	G/A	—	uncertain significance
rs1240990672	1:202,566,099	G/A	—	likely benign
rs1050971699	1:202,566,104	C/T	—	likely benign
rs759879778	1:202,566,105	G/A	—	likely benign
rs770049586	1:202,566,106	A/C	—	likely benign
rs1178527144	1:202,566,109	G/A	—	likely benign
rs369995813	1:202,566,117	T/A	—	benign
rs9633344	1:202,566,200	C/T	—	benign
rs116666851	1:202,566,364	T/G	—	benign
rs111584646	1:202,568,157	C/G	—	likely benign
rs778851008	1:202,568,330	C/T	—	likely benign
rs906377309	1:202,568,332	C/A	—	likely benign
rs757336046	1:202,568,339	C/T	—	likely benign
rs1690410094	1:202,568,345	C/A	—	uncertain significance
rs749704707	1:202,568,357	C/T	—	uncertain significance
rs763009888	1:202,568,358	G/C	—	uncertain significance
rs775014834	1:202,568,382	C/T	—	likely benign
rs139519303	1:202,568,385	G/A	—	likely benign
rs2149066038	1:202,568,389	A/C	—	uncertain significance
rs772833174	1:202,568,402	G/A	—	likely benign
rs563864431	1:202,568,413	T/C	—	uncertain significance
rs142292654	1:202,568,417	C/T	—	uncertain significance
rs774761571	1:202,568,418	G/C	—	likely benign
rs1188311114	1:202,568,433	C/T	—	likely benign
rs1690414006	1:202,568,439	C/A	—	uncertain significance
rs112254314	1:202,568,441	T/G	—	likely benign
rs2526951234	1:202,568,443	T/C	—	uncertain significance
rs752627594	1:202,568,448	A/G	—	likely benign
rs2526951277	1:202,568,450	T/G	—	uncertain significance
rs2149066127	1:202,568,459	G/A	—	likely benign
rs781111468	1:202,568,472	G/A	—	likely benign
rs746003032	1:202,568,475	C/T	—	likely benign
rs587777782	1:202,568,476	G/A	missense variant	pathogenic
rs587777781	1:202,568,479	T/G	missense variant	pathogenic
rs1189436103	1:202,568,483	C/T	—	likely benign
rs79312586	1:202,568,484	G/A	—	benign
rs2526951590	1:202,568,488	G/A	—	likely benign
rs2526951607	1:202,568,489	G/A	—	likely benign
rs986284998	1:202,568,496	C/T	—	likely benign
rs114621429	1:202,568,506	A/G	—	benign
rs907697	1:202,568,735	C/T	—	benign
rs907698	1:202,569,154	G/A	—	benign
rs779602046	1:202,569,475	C/T	—	likely benign
rs752537599	1:202,569,480	C/T	—	conflicting classifications of pathogenicity
rs200553744	1:202,569,481	G/A	—	uncertain significance
rs1690455297	1:202,569,484	C/T	—	likely pathogenic
rs2149066990	1:202,569,487	G/A	—	likely pathogenic
rs750425155	1:202,569,495	G/A	—	likely benign
rs756234494	1:202,569,500	C/T	—	uncertain significance
rs780359132	1:202,569,501	G/A	—	conflicting classifications of pathogenicity
rs2526957499	1:202,569,504	C/T	—	uncertain significance
rs943335288	1:202,569,552	G/A	—	likely benign
rs907699	1:202,569,555	C/T	—	benign
rs199542449	1:202,569,556	G/C	—	uncertain significance
rs1331547398	1:202,569,564	A/G	—	likely benign
rs2149067104	1:202,569,573	G/A	—	likely benign
rs2526958313	1:202,569,577	G/A	—	uncertain significance
rs746445612	1:202,569,588	G/A	—	likely benign
rs2149067131	1:202,569,599	C/A	—	pathogenic
rs115267501	1:202,569,600	T/C	—	likely benign
rs776179209	1:202,569,601	G/A	—	uncertain significance
rs759167957	1:202,569,605	G/C	—	uncertain significance
rs12047787	1:202,569,831	G/A	—	benign
rs1467120	1:202,569,877	G/A	—	benign
rs10800842	1:202,570,776	G/A	—	benign
rs78939535	1:202,570,780	C/T	—	likely benign
rs61820902	1:202,570,918	A/G	—	benign
rs758801043	1:202,571,001	C/T	—	likely benign
rs1423542203	1:202,571,010	G/A	—	likely benign
rs2526967417	1:202,571,011	C/G	—	likely benign
rs778072876	1:202,571,013	C/T	—	uncertain significance
rs1159449771	1:202,571,026	T/C	—	uncertain significance
rs1360174968	1:202,571,032	C/T	—	uncertain significance
rs559392144	1:202,571,035	C/T	—	uncertain significance
rs146188377	1:202,571,053	C/T	—	uncertain significance
rs1038995274	1:202,571,058	A/G	—	uncertain significance

Showing 100 of 223 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.