TMEM237

transmembrane protein 237

Summary

The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Known Variants393 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886055435	2:202,484,958	A/T	—	uncertain significance
rs1387630894	2:202,484,981	T/C	—	uncertain significance
rs768173661	2:202,484,986	T/C	—	uncertain significance
rs187328136	2:202,485,123	T/C	—	uncertain significance
rs555315551	2:202,485,250	T/C	—	uncertain significance
rs761856568	2:202,485,281	C/T	—	uncertain significance
rs563749617	2:202,485,461	T/C	—	uncertain significance
rs77771615	2:202,485,525	A/C	—	likely benign
rs374762322	2:202,485,593	G/A	—	uncertain significance
rs192214909	2:202,485,606	G/A	—	likely benign
rs561312621	2:202,485,628	T/A	—	uncertain significance
rs79378497	2:202,485,854	T/A	—	likely benign
rs866645983	2:202,485,855	A/T	—	uncertain significance
rs886055437	2:202,485,965	T/C	—	uncertain significance
rs955949981	2:202,486,014	A/T	—	uncertain significance
rs188637429	2:202,486,018	G/T	—	uncertain significance
rs142852956	2:202,486,259	C/T	—	likely benign
rs886055438	2:202,486,296	C/G	—	uncertain significance
rs1559581980	2:202,486,308	G/A	—	uncertain significance
rs1957708713	2:202,486,326	T/C	—	uncertain significance
rs1957709069	2:202,486,352	A/G	—	uncertain significance
rs886055439	2:202,486,396	C/A	—	uncertain significance
rs1459433205	2:202,486,483	G/C	—	uncertain significance
rs75655554	2:202,486,498	A/C	—	likely benign
rs527921749	2:202,486,513	T/C	—	uncertain significance
rs1234909902	2:202,486,530	G/T	—	uncertain significance
rs142355657	2:202,486,547	A/C	—	likely benign
rs74884418	2:202,486,629	G/A	—	likely benign
rs1957712077	2:202,486,671	T/C	—	uncertain significance
rs77649251	2:202,486,798	C/T	—	likely benign
rs76042698	2:202,486,836	C/G	—	likely benign
rs147652455	2:202,486,837	G/A	—	uncertain significance
rs115353606	2:202,486,841	T/C	—	likely benign
rs886055440	2:202,486,934	A/G	—	uncertain significance
rs142233268	2:202,487,003	G/C	—	likely benign
rs947203821	2:202,487,013	C/T	—	uncertain significance
rs191383267	2:202,487,088	C/T	—	uncertain significance
rs1301264448	2:202,487,099	C/T	—	uncertain significance
rs1414626161	2:202,487,143	G/A	—	uncertain significance
rs886055441	2:202,487,216	C/T	—	uncertain significance
rs1020619947	2:202,487,323	C/T	—	uncertain significance
rs1000633418	2:202,487,372	A/G	—	uncertain significance
rs886055442	2:202,487,375	A/C	—	uncertain significance
rs150141936	2:202,487,390	C/T	—	likely benign
rs563393191	2:202,487,417	C/T	—	uncertain significance
rs983166297	2:202,487,418	G/A	—	uncertain significance
rs78220061	2:202,487,489	C/G	—	benign
rs528180812	2:202,487,542	C/A	—	uncertain significance
rs187040024	2:202,487,596	G/A	—	uncertain significance
rs886055443	2:202,487,600	T/C	—	uncertain significance
rs1016616892	2:202,487,648	G/A	—	uncertain significance
rs886055444	2:202,487,675	C/T	—	uncertain significance
rs188943302	2:202,487,827	G/A	—	uncertain significance
rs558665286	2:202,487,830	T/C	—	uncertain significance
rs758086204	2:202,487,870	T/C	—	uncertain significance
rs143516209	2:202,487,871	G/A	—	likely benign
rs777244164	2:202,487,970	T/C	—	uncertain significance
rs568084746	2:202,487,991	G/A	—	uncertain significance
rs137925244	2:202,488,009	T/C	—	conflicting classifications of pathogenicity
rs142403941	2:202,488,016	T/G	—	conflicting classifications of pathogenicity
rs1957727275	2:202,488,038	T/G	—	uncertain significance
rs1957727656	2:202,488,083	G/C	—	uncertain significance
rs1957729006	2:202,488,197	C/T	—	uncertain significance
rs940503609	2:202,488,315	C/G	—	uncertain significance
rs139016907	2:202,488,344	G/A	—	likely benign
rs141560423	2:202,488,414	A/G	—	benign
rs530304720	2:202,488,486	A/G	—	uncertain significance
rs139374574	2:202,488,539	C/T	—	likely benign
rs185380807	2:202,488,670	A/C	—	uncertain significance
rs1957734276	2:202,488,675	G/A	—	uncertain significance
rs886055446	2:202,488,695	T/G	—	uncertain significance
rs190276722	2:202,488,904	A/G	—	uncertain significance
rs1957736360	2:202,488,916	T/C	—	uncertain significance
rs749132259	2:202,488,975	G/T	—	uncertain significance
rs2469484829	2:202,488,985	G/A	—	uncertain significance
rs1574576373	2:202,488,987	G/C	—	likely benign
rs2469484835	2:202,488,988	G/T	—	uncertain significance
rs1317494328	2:202,488,993	G/A	—	likely benign
rs779067694	2:202,488,998	C/A	—	uncertain significance
rs1957737864	2:202,489,013	G/A	—	uncertain significance
rs373445814	2:202,489,022	C/T	—	uncertain significance
rs773344011	2:202,489,029	T/C	—	likely benign
rs1322889552	2:202,489,044	C/T	—	likely benign
rs747465681	2:202,489,046	C/T	—	uncertain significance
rs17384203	2:202,489,109	C/T	—	benign
rs73989519	2:202,489,215	A/G	—	benign
rs116335713	2:202,490,583	T/C	—	likely benign
rs1162670210	2:202,490,729	C/T	—	likely benign
rs753804873	2:202,490,734	T/G	—	likely benign
rs754717992	2:202,490,746	T/C	—	uncertain significance
rs1362249907	2:202,490,754	C/T	—	uncertain significance
rs1437714395	2:202,490,764	T/C	—	uncertain significance
rs200863054	2:202,490,767	C/T	—	uncertain significance
rs747158935	2:202,490,773	T/A	—	uncertain significance
rs77570029	2:202,490,774	A/G	—	likely benign
rs886055447	2:202,490,793	G/C	—	uncertain significance
rs370795793	2:202,490,794	A/G	—	uncertain significance
rs373965403	2:202,490,798	T/G	—	likely benign
rs73989521	2:202,490,812	A/C	—	benign
rs1957756375	2:202,490,817	A/G	—	uncertain significance

Showing 100 of 393 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.