MFN2

mitofusin 2

Summary

This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

Known Variants1,021 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2236053	1:12,040,203	A/G	—	benign
rs552167805	1:12,040,206	T/G	—	likely benign
rs973376897	1:12,040,223	G/A	—	uncertain significance
rs568548916	1:12,040,309	G/A	—	uncertain significance
rs997846275	1:12,040,332	C/G	—	uncertain significance
rs886045216	1:12,040,347	C/T	—	uncertain significance
rs886045217	1:12,040,363	T/A	—	uncertain significance
rs2180181	1:12,040,404	C/T	—	likely benign
rs2180182	1:12,040,442	T/A	—	likely benign
rs886045218	1:12,040,474	C/A	—	uncertain significance
rs140094248	1:12,040,530	G/A	—	likely benign
rs879253978	1:12,040,545	A/T	—	uncertain significance
rs776248244	1:12,040,560	C/T	—	likely benign
rs1057520638	1:12,040,561	G/A	—	likely benign
rs1053095330	1:12,042,007	C/A	—	likely benign
rs114306601	1:12,042,012	T/G	—	likely benign
rs7538183	1:12,042,096	C/T	—	benign
rs575581303	1:12,042,166	A/G	—	likely benign
rs2236055	1:12,042,261	A/G	regulatory region variant	benign
rs76208470	1:12,042,298	C/T	—	benign
rs4846082	1:12,042,443	C/G	—	—
rs4845891	1:12,042,506	T/A	—	—
rs4240897	1:12,042,755	G/A	intron variant	—
rs3766744	1:12,043,717	G/A	regulatory region variant	—
rs1474868	1:12,044,164	C/T	intron variant	—
rs2336384	1:12,046,063	G/A	—	—
rs873458	1:12,046,089	G/A	regulatory region variant	—
rs873457	1:12,046,334	C/G	regulatory region variant	—
rs192381474	1:12,049,001	C/A	—	likely benign
rs373679523	1:12,049,209	G/T	—	likely benign
rs1557515730	1:12,049,226	A/G	—	uncertain significance
rs764758724	1:12,049,235	C/T	—	uncertain significance
rs1557515779	1:12,049,244	C/T	—	conflicting classifications of pathogenicity
rs1296772735	1:12,049,245	G/A	—	uncertain significance
rs1342700068	1:12,049,247	T/C	—	uncertain significance
rs752363939	1:12,049,249	C/G	—	uncertain significance
rs757982521	1:12,049,254	C/G	—	uncertain significance
rs763735861	1:12,049,256	A/G	—	uncertain significance
rs777625403	1:12,049,257	T/G	—	uncertain significance
rs756450319	1:12,049,258	C/T	—	likely benign
rs367715413	1:12,049,259	G/A	—	uncertain significance
rs748233037	1:12,049,271	A/C	—	uncertain significance
rs772477199	1:12,049,274	A/G	—	likely benign
rs2522961692	1:12,049,282	A/T	—	uncertain significance
rs201715603	1:12,049,283	C/T	—	conflicting classifications of pathogenicity
rs1569802518	1:12,049,286	A/G	—	uncertain significance
rs1178355950	1:12,049,289	G/T	—	uncertain significance
rs746838667	1:12,049,291	T/C	—	likely benign
rs138454088	1:12,049,297	G/T	—	likely benign
rs764662159	1:12,049,303	A/G	—	likely benign
rs554067157	1:12,049,309	A/C	—	likely benign
rs1553140991	1:12,049,316	C/T	—	uncertain significance
rs2522962020	1:12,049,318	C/G	—	uncertain significance
rs1157741525	1:12,049,338	A/T	—	uncertain significance
rs1288073943	1:12,049,342	C/A	—	likely benign
rs1026123951	1:12,049,343	A/G	—	uncertain significance
rs1354203259	1:12,049,344	A/G	—	uncertain significance
rs756467977	1:12,049,345	T/C	—	likely benign
rs2100802868	1:12,049,347	G/A	—	uncertain significance
rs2522962265	1:12,049,353	T/G	—	uncertain significance
rs1569802992	1:12,049,359	A/G	—	uncertain significance
rs1263406133	1:12,049,365	G/C	—	uncertain significance
rs766706650	1:12,049,367	G/A	—	uncertain significance
rs2100802936	1:12,049,370	T/G	—	conflicting classifications of pathogenicity
rs755575773	1:12,049,372	C/T	—	likely benign
rs78841746	1:12,049,375	C/A	—	likely benign
rs886045219	1:12,049,378	G/T	—	uncertain significance
rs1553141017	1:12,049,379	G/A	—	likely pathogenic
rs61733200	1:12,049,384	C/G	—	uncertain significance
rs61733203	1:12,049,385	G/A	—	conflicting classifications of pathogenicity
rs747176196	1:12,049,386	C/T	—	uncertain significance
rs776423551	1:12,049,388	A/T	—	uncertain significance
rs77458527	1:12,049,390	C/T	—	likely benign
rs769831339	1:12,049,393	C/T	—	likely benign
rs1443899568	1:12,049,396	T/C	—	likely benign
rs1311434220	1:12,049,400	G/T	—	uncertain significance
rs530397368	1:12,049,405	G/A	—	uncertain significance
rs762489839	1:12,049,406	G/T	—	uncertain significance
rs1310322504	1:12,049,408	G/T	—	likely benign
rs373340717	1:12,049,409	G/A	—	conflicting classifications of pathogenicity
rs186824858	1:12,049,412	C/A	—	likely benign
rs1457407317	1:12,049,413	C/T	—	likely benign
rs202139103	1:12,049,414	G/A	—	benign
rs4846085	1:12,050,634	T/C	regulatory region variant	—
rs6675934	1:12,052,405	A/G	—	benign
rs116722569	1:12,052,412	G/T	—	likely benign
rs17037562	1:12,052,553	C/G	—	benign
rs1638733188	1:12,052,593	T/G	—	likely benign
rs1236200141	1:12,052,596	C/T	—	likely benign
rs2100812418	1:12,052,597	A/G	—	likely benign
rs2100812425	1:12,052,598	A/G	—	uncertain significance
rs1189123888	1:12,052,604	A/C	—	likely benign
rs374055101	1:12,052,605	C/T	—	likely benign
rs546254672	1:12,052,608	C/G	—	likely benign
rs975369655	1:12,052,609	C/T	—	uncertain significance
rs138345244	1:12,052,615	C/T	—	conflicting classifications of pathogenicity
rs776601428	1:12,052,616	G/A	—	likely benign
rs1638734576	1:12,052,619	C/T	—	conflicting classifications of pathogenicity
rs761216583	1:12,052,623	A/C	—	uncertain significance
rs2100812512	1:12,052,625	T/C	—	likely benign

Showing 100 of 1,021 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.