INVS

inversin

Summary

This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2012]

Known Variants796 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886063263	9:102,861,545	G/A	—	uncertain significance
rs1241040246	9:102,861,547	C/T	—	uncertain significance
rs62577237	9:102,861,568	T/C	—	likely benign
rs533889420	9:102,861,594	C/A	—	uncertain significance
rs7024375	9:102,861,613	T/G	—	benign
rs181463817	9:102,866,787	C/T	—	conflicting classifications of pathogenicity
rs1827109471	9:102,866,809	C/A	—	uncertain significance
rs1827109569	9:102,866,813	T/G	—	uncertain significance
rs777589570	9:102,866,830	T/C	—	likely benign
rs1554713054	9:102,866,836	T/C	—	conflicting classifications of pathogenicity
rs770840878	9:102,866,842	A/G	—	likely benign
rs1827110732	9:102,866,851	A/G	—	likely benign
rs1419957613	9:102,866,869	C/T	—	likely benign
rs145303373	9:102,866,870	G/A	—	uncertain significance
rs375665375	9:102,866,891	C/T	—	likely benign
rs770086181	9:102,866,893	A/G	—	likely benign
rs1003287751	9:102,866,895	A/G	—	uncertain significance
rs1588000254	9:102,866,899	G/A	—	likely benign
rs1292597343	9:102,866,902	C/G	—	likely benign
rs115640267	9:102,866,905	C/T	—	likely benign
rs368173855	9:102,866,906	G/A	—	uncertain significance
rs759095839	9:102,866,907	T/C	—	uncertain significance
rs1827113455	9:102,866,912	A/C	—	uncertain significance
rs1196750401	9:102,866,915	C/T	—	uncertain significance
rs2118820266	9:102,866,916	A/G	—	likely benign
rs1827114234	9:102,866,924	T/G	—	likely benign
rs1827114418	9:102,866,926	A/T	—	likely benign
rs763812964	9:102,866,927	G/A	—	likely benign
rs1365668094	9:102,866,929	A/G	—	likely benign
rs1181340255	9:102,888,648	G/A	—	likely benign
rs767161939	9:102,888,656	T/C	—	likely benign
rs1564123526	9:102,888,658	C/T	—	uncertain significance
rs2490877060	9:102,888,664	G/A	—	likely pathogenic
rs114056499	9:102,888,672	T/C	—	conflicting classifications of pathogenicity
rs148219510	9:102,888,676	C/G	—	conflicting classifications of pathogenicity
rs1564123563	9:102,888,689	A/C	—	uncertain significance
rs757051290	9:102,888,690	A/G	—	likely benign
rs990581492	9:102,888,707	C/T	—	uncertain significance
rs1348116871	9:102,888,711	A/G	—	likely benign
rs758283111	9:102,888,712	C/T	—	uncertain significance
rs748223529	9:102,888,716	T/C	—	uncertain significance
rs1255520048	9:102,888,720	T/C	—	likely benign
rs552421229	9:102,888,723	C/T	—	conflicting classifications of pathogenicity
rs778036236	9:102,888,724	G/A	—	uncertain significance
rs886038603	9:102,888,736	A/G	—	uncertain significance
rs746395268	9:102,888,744	T/C	—	likely benign
rs1346793183	9:102,888,752	A/G	—	uncertain significance
rs772644712	9:102,888,755	C/T	—	uncertain significance
rs150557072	9:102,888,756	T/C	—	conflicting classifications of pathogenicity
rs2490877763	9:102,888,792	C/T	—	likely benign
rs1231356870	9:102,888,797	G/A	—	uncertain significance
rs2490877933	9:102,888,814	C/G	—	uncertain significance
rs1341471827	9:102,888,824	C/T	—	uncertain significance
rs1827890162	9:102,888,827	A/G	—	uncertain significance
rs375757276	9:102,888,832	G/A	—	likely pathogenic
rs2118895764	9:102,888,834	G/A	—	uncertain significance
rs1195767279	9:102,888,836	G/A	—	uncertain significance
rs1174779384	9:102,888,846	T/A	—	likely benign
rs2118895808	9:102,888,847	T/C	—	likely benign
rs76975466	9:102,888,877	C/T	—	likely benign
rs10989019	9:102,976,541	T/C	intron variant	—
rs7853585	9:102,984,219	A/C	intron variant	—
rs57734783	9:102,988,028	A/T	—	benign
rs56840267	9:102,988,234	G/A	—	benign
rs1396220474	9:102,988,329	T/A	—	likely benign
rs201366153	9:102,988,330	T/G	—	likely benign
rs2491192231	9:102,988,342	A/G	—	likely pathogenic
rs1554724084	9:102,988,346	A/C	—	likely benign
rs2491192253	9:102,988,352	T/C	—	likely benign
rs1189239222	9:102,988,353	C/T	—	uncertain significance
rs372088206	9:102,988,354	G/A	—	uncertain significance
rs375188577	9:102,988,356	T/C	—	uncertain significance
rs2491192289	9:102,988,367	C/G	—	likely benign
rs757623556	9:102,988,371	C/T	—	uncertain significance
rs750863293	9:102,988,377	C/T	—	uncertain significance
rs1831309614	9:102,988,379	C/T	—	likely benign
rs1831309953	9:102,988,389	T/G	—	uncertain significance
rs2491192423	9:102,988,391	G/A	—	pathogenic
rs2491192429	9:102,988,395	C/T	—	pathogenic
rs1464689697	9:102,988,400	G/A	—	likely benign
rs1564165829	9:102,988,406	G/A	—	conflicting classifications of pathogenicity
rs747572974	9:102,988,407	G/A	—	uncertain significance
rs1222088207	9:102,988,412	G/C	—	uncertain significance
rs1021818693	9:102,988,419	C/G	—	uncertain significance
rs138668044	9:102,988,427	C/T	—	likely benign
rs1564165860	9:102,988,430	G/T	—	uncertain significance
rs1588103260	9:102,988,433	C/T	—	likely benign
rs747606826	9:102,988,436	C/T	—	likely benign
rs149315279	9:102,988,437	C/T	—	conflicting classifications of pathogenicity
rs757534991	9:102,988,438	G/A	—	uncertain significance
rs1251662430	9:102,988,441	A/G	—	uncertain significance
rs1588103280	9:102,988,442	C/T	—	likely benign
rs1393076458	9:102,988,470	C/T	—	likely benign
rs2491192798	9:102,988,472	G/A	—	likely benign
rs1831314008	9:102,988,476	T/A	—	uncertain significance
rs375209595	9:102,988,480	T/C	—	uncertain significance
rs1831314947	9:102,988,501	C/T	—	uncertain significance
rs745703727	9:102,988,503	C/A	—	uncertain significance
rs755575787	9:102,988,514	C/T	—	likely benign
rs781529497	9:102,988,521	A/C	—	likely benign

Showing 100 of 796 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.