MTMR14

myotubularin related protein 14

Summary

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]

Known Variants232 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs967305250	3:9,691,273	C/T	—	likely benign
rs1574900666	3:9,691,277	G/A	—	uncertain significance
rs2470067328	3:9,691,290	C/T	—	uncertain significance
rs1432784235	3:9,691,294	C/T	—	likely benign
rs1239467628	3:9,691,297	T/G	—	likely benign
rs747366706	3:9,691,306	G/A	—	likely benign
rs755475489	3:9,691,308	G/A	—	uncertain significance
rs1231636773	3:9,691,315	G/A	—	likely benign
rs1178659328	3:9,691,321	T/C	—	likely benign
rs992229736	3:9,691,325	G/T	—	uncertain significance
rs150661840	3:9,691,333	G/A	—	benign
rs771839057	3:9,691,341	A/G	—	uncertain significance
rs763987152	3:9,691,350	G/A	—	uncertain significance
rs761803321	3:9,691,352	C/G	—	uncertain significance
rs765241955	3:9,691,353	T/C	—	uncertain significance
rs1037528457	3:9,691,359	A/T	—	uncertain significance
rs201655756	3:9,691,364	C/T	—	likely benign
rs2470069530	3:9,691,367	G/C	—	uncertain significance
rs2047166123	3:9,691,377	C/T	—	uncertain significance
rs2047167516	3:9,691,399	G/T	—	uncertain significance
rs1172719911	3:9,691,400	G/T	—	uncertain significance
rs756733484	3:9,691,409	G/A	—	uncertain significance
rs1257137541	3:9,691,418	G/T	—	uncertain significance
rs2047434460	3:9,695,291	C/T	—	likely benign
rs1458255145	3:9,695,310	G/A	—	likely benign
rs377332766	3:9,695,311	C/G	—	uncertain significance
rs544683917	3:9,695,312	G/A	—	uncertain significance
rs2470170007	3:9,695,316	T/C	—	likely benign
rs371108912	3:9,695,328	T/C	—	likely benign
rs375944156	3:9,695,332	G/T	—	uncertain significance
rs759504467	3:9,695,343	C/T	—	likely benign
rs754777692	3:9,695,344	C/T	—	conflicting classifications of pathogenicity
rs772387395	3:9,695,345	G/A	—	uncertain significance
rs2470170837	3:9,695,348	A/G	—	uncertain significance
rs1236014367	3:9,695,353	T/C	—	uncertain significance
rs761153860	3:9,695,359	A/C	—	uncertain significance
rs1488239381	3:9,695,362	G/A	—	uncertain significance
rs2470172055	3:9,695,386	A/C	—	uncertain significance
rs1162011740	3:9,695,395	C/T	—	uncertain significance
rs1574920079	3:9,695,401	C/T	—	uncertain significance
rs189325962	3:9,695,405	G/A	—	conflicting classifications of pathogenicity
rs2470173302	3:9,695,424	G/T	—	uncertain significance
rs757260256	3:9,695,451	C/T	—	uncertain significance
rs1413765461	3:9,695,454	G/A	—	uncertain significance
rs370205240	3:9,695,470	C/G	—	uncertain significance
rs762243300	3:9,695,471	G/A	—	likely benign
rs539496653	3:9,698,638	G/A	—	—
rs763760509	3:9,703,942	G/A	—	likely benign
rs1037433537	3:9,703,963	C/T	—	likely benign
rs764999122	3:9,703,964	G/A	—	uncertain significance
rs2047986951	3:9,703,979	T/C	—	likely benign
rs2470369713	3:9,703,990	C/T	—	likely benign
rs532834766	3:9,704,002	C/G	—	uncertain significance
rs374276198	3:9,704,012	C/T	—	uncertain significance
rs368196455	3:9,704,013	G/A	—	uncertain significance
rs1040097421	3:9,704,051	A/G	—	uncertain significance
rs2470371135	3:9,704,052	A/C	—	uncertain significance
rs371425672	3:9,710,388	A/G	—	likely benign
rs534059510	3:9,710,398	C/T	—	likely benign
rs150367672	3:9,710,400	C/A	—	uncertain significance
rs767533712	3:9,710,416	C/T	—	uncertain significance
rs2470515569	3:9,710,425	T/C	—	uncertain significance
rs756173272	3:9,710,432	A/T	—	uncertain significance
rs915463994	3:9,710,441	G/T	—	uncertain significance
rs375826804	3:9,710,465	C/T	—	conflicting classifications of pathogenicity
rs200189498	3:9,710,467	A/C	—	uncertain significance
rs138045243	3:9,710,491	C/T	—	likely benign
rs777405290	3:9,711,118	G/C	—	uncertain significance
rs373227805	3:9,711,119	G/C	—	uncertain significance
rs2125116731	3:9,711,126	T/G	—	uncertain significance
rs189614064	3:9,711,141	T/A	—	likely benign
rs771834344	3:9,711,142	G/A	—	uncertain significance
rs9837634	3:9,711,150	C/T	—	likely benign
rs776740314	3:9,711,156	G/A	—	likely benign
rs199732783	3:9,711,157	G/C	—	uncertain significance
rs765475266	3:9,711,161	A/G	—	uncertain significance
rs993417750	3:9,711,162	G/A	—	conflicting classifications of pathogenicity
rs755547029	3:9,711,184	C/T	—	likely benign
rs374559968	3:9,711,189	T/G	—	likely benign
rs1182046582	3:9,712,721	C/T	—	likely benign
rs1263017116	3:9,712,734	G/A	—	uncertain significance
rs2125130630	3:9,712,737	G/A	—	uncertain significance
rs9880613	3:9,712,744	G/A	—	likely benign
rs753192122	3:9,712,762	C/T	—	likely benign
rs778623733	3:9,712,767	G/A	—	uncertain significance
rs1429851346	3:9,712,770	A/C	—	uncertain significance
rs773317652	3:9,712,792	C/T	—	likely benign
rs376853912	3:9,712,801	C/T	—	likely benign
rs747671579	3:9,712,803	A/G	—	uncertain significance
rs759953370	3:9,712,805	T/C	—	uncertain significance
rs201958729	3:9,712,817	C/T	—	likely benign
rs764667127	3:9,712,826	G/A	—	uncertain significance
rs970950438	3:9,714,357	C/G	—	likely benign
rs752508907	3:9,714,359	T/C	—	likely benign
rs2125145187	3:9,714,365	G/A	—	likely benign
rs199688667	3:9,714,369	T/C	—	conflicting classifications of pathogenicity
rs745913718	3:9,714,404	G/A	—	uncertain significance
rs780381376	3:9,714,408	T/C	—	likely benign
rs747380620	3:9,714,411	C/T	—	likely benign
rs200924533	3:9,714,412	G/A	—	uncertain significance

Showing 100 of 232 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.