VANGL1

VANGL planar cell polarity protein 1

Summary

This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]

Known Variants230 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs563855412	1:116,184,606	G/A	—	likely benign
rs116216703	1:116,184,619	G/C	—	benign
rs191609592	1:116,184,621	C/A	—	benign
rs886045117	1:116,184,674	C/A	—	uncertain significance
rs559438343	1:116,184,700	G/T	—	uncertain significance
rs181583261	1:116,193,920	G/C	—	conflicting classifications of pathogenicity
rs886045118	1:116,194,011	C/T	—	uncertain significance
rs779768443	1:116,194,044	G/A	—	uncertain significance
rs1202230056	1:116,194,075	C/T	—	uncertain significance
rs575493003	1:116,194,085	G/A	—	conflicting classifications of pathogenicity
rs2464683592	1:116,194,102	A/C	—	uncertain significance
rs45562632	1:116,202,148	G/A	—	benign
rs61734296	1:116,202,263	G/A	—	conflicting classifications of pathogenicity
rs78535164	1:116,202,288	C/T	—	conflicting classifications of pathogenicity
rs375505955	1:116,202,293	C/T	—	uncertain significance
rs201840785	1:116,202,304	C/T	—	conflicting classifications of pathogenicity
rs772309606	1:116,202,328	C/T	—	likely benign
rs2464704990	1:116,202,386	G/A	—	uncertain significance
rs10801911	1:116,203,864	A/G	intron variant	—
rs541431101	1:116,206,278	C/T	—	benign
rs2464717469	1:116,206,293	G/C	—	uncertain significance
rs186509771	1:116,206,308	G/A	—	conflicting classifications of pathogenicity
rs146695372	1:116,206,325	C/T	—	benign
rs146495414	1:116,206,326	G/A	—	likely benign
rs761474411	1:116,206,331	A/G	—	uncertain significance
rs143196463	1:116,206,351	A/G	—	conflicting classifications of pathogenicity
rs140451005	1:116,206,362	C/T	—	likely benign
rs746157399	1:116,206,383	C/T	—	likely benign
rs147048524	1:116,206,384	G/A	—	likely benign
rs146723580	1:116,206,389	G/C	—	uncertain significance
rs867892644	1:116,206,393	G/A	—	uncertain significance
rs141673853	1:116,206,400	A/G	—	likely benign
rs41275546	1:116,206,407	C/T	—	likely benign
rs79828493	1:116,206,422	C/T	—	likely benign
rs4839469	1:116,206,423	G/A	—	benign
rs141482063	1:116,206,474	T/C	—	likely benign
rs34768472	1:116,206,512	T/C	—	likely benign
rs759094384	1:116,206,530	G/A	—	uncertain significance
rs1652670247	1:116,206,574	G/A	—	uncertain significance
rs200535188	1:116,206,594	C/T	—	uncertain significance
rs148341022	1:116,206,595	G/A	—	benign
rs142594314	1:116,206,600	C/T	—	conflicting classifications of pathogenicity
rs761123443	1:116,206,619	G/A	—	uncertain significance
rs781010619	1:116,206,649	T/C	—	conflicting classifications of pathogenicity
rs561312836	1:116,206,652	T/C	—	conflicting classifications of pathogenicity
rs748761459	1:116,206,673	C/T	—	uncertain significance
rs577862345	1:116,206,689	C/T	—	uncertain significance
rs771534557	1:116,206,696	C/T	—	uncertain significance
rs1009946726	1:116,206,712	G/A	—	uncertain significance
rs143395094	1:116,206,717	C/T	—	likely benign
rs1652683067	1:116,206,756	G/T	—	uncertain significance
rs201698322	1:116,206,758	G/A	—	uncertain significance
rs2464719830	1:116,206,759	G/A	—	uncertain significance
rs376477305	1:116,206,791	C/T	—	likely benign
rs121918218	1:116,206,792	G/A	missense variant	pathogenic
rs555914402	1:116,206,836	G/C	—	uncertain significance
rs368722418	1:116,206,842	C/T	—	uncertain significance
rs757915785	1:116,206,851	C/T	—	likely benign
rs377435467	1:116,206,864	C/T	—	uncertain significance
rs538250549	1:116,206,865	G/A	—	uncertain significance
rs370321176	1:116,206,898	C/T	—	conflicting classifications of pathogenicity
rs12137699	1:116,209,762	C/T	intron variant	—
rs17500488	1:116,211,763	T/C	regulatory region variant	—
rs10923174	1:116,224,788	T/C	—	benign
rs10923175	1:116,224,792	C/T	—	benign
rs10923176	1:116,224,925	G/A	—	benign
rs10754330	1:116,224,940	C/A	—	benign
rs121918219	1:116,224,993	G/A	missense variant	risk factor
rs1457285266	1:116,225,016	A/G	—	uncertain significance
rs868487713	1:116,225,039	C/A	—	uncertain significance
rs145309218	1:116,225,040	T/C	—	conflicting classifications of pathogenicity
rs763616632	1:116,225,041	A/G	—	uncertain significance
rs886045119	1:116,225,086	A/T	—	uncertain significance
rs148965020	1:116,225,093	C/T	—	likely benign
rs545442436	1:116,225,110	A/G	—	uncertain significance
rs10923177	1:116,225,180	C/A	—	benign
rs10923178	1:116,225,430	T/G	—	benign
rs12144356	1:116,226,459	C/T	—	benign
rs141396495	1:116,226,595	G/A	—	uncertain significance
rs121918220	1:116,226,601	T/C	missense variant	risk factor
rs543050989	1:116,226,641	C/T	—	conflicting classifications of pathogenicity
rs34059106	1:116,226,658	A/C	—	benign
rs778860160	1:116,226,663	G/A	—	uncertain significance
rs550084260	1:116,226,667	A/G	—	uncertain significance
rs147220426	1:116,226,668	T/C	—	conflicting classifications of pathogenicity
rs770589524	1:116,226,676	G/A	—	uncertain significance
rs4631691	1:116,226,862	T/C	—	benign
rs4620545	1:116,226,917	G/A	—	benign
rs4357522	1:116,226,961	A/G	—	benign
rs11800022	1:116,227,638	C/T	—	benign
rs11811813	1:116,227,664	C/T	—	benign
rs200389969	1:116,227,961	A/G	—	likely benign
rs140485834	1:116,228,006	G/T	—	conflicting classifications of pathogenicity
rs1198149468	1:116,228,035	A/C	—	uncertain significance
rs775571796	1:116,228,044	G/T	—	uncertain significance
rs764026398	1:116,228,062	C/T	—	uncertain significance
rs755820435	1:116,228,071	C/T	—	uncertain significance
rs1557776126	1:116,228,101	A/T	—	uncertain significance
rs1247446086	1:116,228,125	A/G	—	uncertain significance
rs145137292	1:116,228,133	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 230 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.