MTMR2

myotubularin related protein 2

Summary

This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Known Variants478 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs16922613	11:95,566,048	A/G	—	benign
rs886048762	11:95,566,097	A/G	—	uncertain significance
rs141738388	11:95,566,267	T/C	—	likely benign
rs923425383	11:95,566,412	C/G	—	uncertain significance
rs886048763	11:95,566,416	G/C	—	uncertain significance
rs112404010	11:95,566,440	C/A	—	benign
rs118033833	11:95,566,502	C/T	—	benign
rs525404	11:95,566,520	A/G	—	benign
rs145394232	11:95,566,628	G/T	—	uncertain significance
rs562826516	11:95,566,632	A/C	—	uncertain significance
rs79576160	11:95,566,770	T/G	—	likely benign
rs1006542556	11:95,566,798	A/C	—	uncertain significance
rs596277	11:95,566,886	G/A	—	benign
rs149223349	11:95,567,010	G/C	—	benign
rs886048764	11:95,567,029	T/C	—	uncertain significance
rs496305	11:95,567,035	C/T	—	benign
rs16922615	11:95,567,058	G/A	—	benign
rs547240331	11:95,567,115	A/C	—	uncertain significance
rs1863141196	11:95,567,183	T/C	—	uncertain significance
rs1863142451	11:95,567,205	C/T	—	uncertain significance
rs886048766	11:95,567,304	G/A	—	uncertain significance
rs147982779	11:95,567,365	G/C	—	likely benign
rs16922622	11:95,567,388	A/G	—	benign
rs1863154187	11:95,567,418	G/A	—	uncertain significance
rs57807625	11:95,567,467	A/G	—	benign
rs555290971	11:95,567,544	A/T	—	uncertain significance
rs532069328	11:95,567,617	C/T	—	likely benign
rs192257681	11:95,567,629	C/T	—	uncertain significance
rs1863164114	11:95,567,644	G/C	—	uncertain significance
rs776788118	11:95,567,775	T/G	—	uncertain significance
rs886048768	11:95,567,794	C/T	—	uncertain significance
rs611020	11:95,567,905	C/T	—	benign
rs1565341245	11:95,568,119	A/G	—	uncertain significance
rs574781741	11:95,568,215	T/A	—	uncertain significance
rs372852182	11:95,568,242	T/G	—	uncertain significance
rs185702937	11:95,568,247	T/C	—	uncertain significance
rs886048769	11:95,568,264	C/T	—	uncertain significance
rs114078363	11:95,568,291	C/T	—	likely benign
rs367677499	11:95,568,321	G/C	—	uncertain significance
rs578159	11:95,568,369	T/G	—	likely benign
rs587779387	11:95,568,401	C/T	—	uncertain significance
rs1590967661	11:95,568,437	C/T	—	uncertain significance
rs779529851	11:95,568,457	T/C	—	likely benign
rs1220779896	11:95,568,463	A/G	—	likely benign
rs2496388786	11:95,568,469	G/C	—	likely benign
rs1356220463	11:95,568,471	C/A	—	uncertain significance
rs1555056657	11:95,568,476	G/A	—	uncertain significance
rs923973985	11:95,568,486	G/A	—	conflicting classifications of pathogenicity
rs532885622	11:95,568,489	C/T	—	uncertain significance
rs780764646	11:95,568,490	A/C	—	likely benign
rs747684213	11:95,568,502	T/G	—	uncertain significance
rs777498850	11:95,568,504	T/G	—	likely benign
rs1863216623	11:95,568,507	C/T	—	uncertain significance
rs2496389512	11:95,568,510	A/T	—	uncertain significance
rs770755992	11:95,568,519	T/C	—	uncertain significance
rs371925152	11:95,568,524	C/T	—	conflicting classifications of pathogenicity
rs753364428	11:95,568,525	G/A	—	uncertain significance
rs2496389754	11:95,568,530	G/C	—	uncertain significance
rs116750638	11:95,568,531	A/G	—	conflicting classifications of pathogenicity
rs1392067749	11:95,568,534	T/G	—	uncertain significance
rs369804894	11:95,568,535	C/G	—	uncertain significance
rs2135399090	11:95,568,539	C/T	—	uncertain significance
rs886048770	11:95,568,543	G/C	—	uncertain significance
rs1271455669	11:95,568,554	A/G	—	uncertain significance
rs762262045	11:95,568,560	T/C	—	uncertain significance
rs750836112	11:95,568,575	C/T	—	uncertain significance
rs138746296	11:95,568,576	G/A	—	conflicting classifications of pathogenicity
rs2496390471	11:95,568,579	T/C	—	uncertain significance
rs76784113	11:95,568,581	G/C	—	likely benign
rs1590968097	11:95,568,610	A/C	—	likely benign
rs749010549	11:95,568,612	G/A	—	uncertain significance
rs473852	11:95,568,757	C/A	—	benign
rs499637	11:95,569,183	G/A	—	benign
rs627568	11:95,569,253	A/C	—	benign
rs752050148	11:95,569,292	G/T	—	likely benign
rs755619692	11:95,569,294	A/G	—	likely benign
rs369303651	11:95,569,297	T/C	—	likely benign
rs1863265850	11:95,569,300	T/C	—	likely benign
rs908222470	11:95,569,305	C/G	—	likely benign
rs1565342479	11:95,569,308	A/G	—	uncertain significance
rs756909627	11:95,569,309	T/C	—	conflicting classifications of pathogenicity
rs778532655	11:95,569,312	C/T	—	uncertain significance
rs1565342506	11:95,569,314	G/A	—	pathogenic
rs1863268067	11:95,569,319	T/G	—	uncertain significance
rs61735576	11:95,569,325	C/T	—	likely benign
rs61735577	11:95,569,326	G/A	—	uncertain significance
rs138036650	11:95,569,327	T/A	—	likely benign
rs1590968942	11:95,569,333	C/T	—	likely pathogenic
rs149476960	11:95,569,341	T/C	—	conflicting classifications of pathogenicity
rs1863269461	11:95,569,348	T/C	—	likely benign
rs1863269909	11:95,569,359	G/C	—	uncertain significance
rs771548803	11:95,569,361	T/C	—	uncertain significance
rs1344622348	11:95,569,370	C/T	—	uncertain significance
rs773359524	11:95,569,375	G/A	—	likely benign
rs1555056916	11:95,569,387	A/G	—	likely benign
rs200717440	11:95,569,388	T/A	—	uncertain significance
rs1181723967	11:95,569,400	T/G	—	uncertain significance
rs1555056924	11:95,569,408	G/A	—	likely benign
rs147170889	11:95,569,415	T/C	—	uncertain significance
rs750110066	11:95,569,421	G/A	—	uncertain significance

Showing 100 of 478 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.