CPLANE1
ciliogenesis and planar polarity effector complex subunit 1
Summary
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS). [provided by RefSeq, May 2012]
Known Variants1,785 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs300046 | 5:37,081,705 | A/G | upstream gene variant | — |
| rs116197379 | 5:37,106,335 | G/T | — | uncertain significance |
| rs145399031 | 5:37,106,386 | T/C | — | uncertain significance |
| rs369092543 | 5:37,106,807 | G/A | — | uncertain significance |
| rs75549748 | 5:37,106,815 | T/C | — | benign |
| rs886060568 | 5:37,106,832 | T/G | — | uncertain significance |
| rs553022771 | 5:37,106,871 | A/G | — | uncertain significance |
| rs187198752 | 5:37,106,891 | T/C | — | uncertain significance |
| rs78011227 | 5:37,106,897 | T/C | — | likely benign |
| rs191724705 | 5:37,106,990 | A/T | — | uncertain significance |
| rs886060569 | 5:37,107,043 | A/C | — | uncertain significance |
| rs543018376 | 5:37,107,062 | C/T | — | uncertain significance |
| rs116744214 | 5:37,107,063 | G/A | — | benign |
| rs556117030 | 5:37,107,186 | A/G | — | conflicting classifications of pathogenicity |
| rs1282754215 | 5:37,107,233 | T/A | — | uncertain significance |
| rs886060570 | 5:37,107,239 | C/T | — | uncertain significance |
| rs7712558 | 5:37,107,263 | T/G | — | benign |
| rs921198091 | 5:37,107,277 | C/T | — | uncertain significance |
| rs190089842 | 5:37,107,281 | G/C | — | likely benign |
| rs145945346 | 5:37,107,296 | C/T | — | uncertain significance |
| rs115541718 | 5:37,107,308 | A/G | — | likely benign |
| rs886060571 | 5:37,107,610 | C/A | — | uncertain significance |
| rs1757860413 | 5:37,107,664 | G/A | — | uncertain significance |
| rs200332492 | 5:37,107,686 | C/A | — | conflicting classifications of pathogenicity |
| rs758449287 | 5:37,107,690 | A/G | — | likely benign |
| rs1267447258 | 5:37,107,706 | A/C | — | uncertain significance |
| rs777937916 | 5:37,107,713 | C/T | — | likely benign |
| rs781448726 | 5:37,107,729 | G/C | — | uncertain significance |
| rs368852403 | 5:37,107,730 | A/G | — | uncertain significance |
| rs1339135347 | 5:37,107,731 | C/T | — | uncertain significance |
| rs780349375 | 5:37,107,748 | C/T | — | uncertain significance |
| rs749728770 | 5:37,107,749 | G/A | — | likely benign |
| rs770395082 | 5:37,107,760 | T/A | — | uncertain significance |
| rs372215544 | 5:37,107,766 | C/T | — | uncertain significance |
| rs2546332865 | 5:37,107,771 | G/A | — | uncertain significance |
| rs1421414177 | 5:37,107,772 | C/A | — | uncertain significance |
| rs374776325 | 5:37,107,781 | C/A | — | uncertain significance |
| rs2546333380 | 5:37,107,782 | C/T | — | likely benign |
| rs752444561 | 5:37,107,784 | G/A | — | likely benign |
| rs571665485 | 5:37,107,791 | G/A | — | likely benign |
| rs1445678153 | 5:37,107,802 | C/A | — | uncertain significance |
| rs757393817 | 5:37,107,817 | C/T | — | uncertain significance |
| rs369047201 | 5:37,107,818 | G/A | — | likely benign |
| rs750657907 | 5:37,107,829 | C/T | — | uncertain significance |
| rs149930278 | 5:37,107,830 | G/A | — | likely benign |
| rs1317390469 | 5:37,107,850 | C/A | — | uncertain significance |
| rs1355287428 | 5:37,107,871 | G/T | — | uncertain significance |
| rs2149847174 | 5:37,107,897 | A/G | — | likely benign |
| rs779368588 | 5:37,107,898 | C/T | — | likely benign |
| rs544821904 | 5:37,107,900 | A/G | — | benign |
| rs77302579 | 5:37,108,256 | A/G | — | likely benign |
| rs767567076 | 5:37,108,382 | G/A | — | likely benign |
| rs369166609 | 5:37,108,388 | T/C | — | likely benign |
| rs886060572 | 5:37,108,400 | G/C | — | uncertain significance |
| rs144698212 | 5:37,108,432 | T/G | — | uncertain significance |
| rs748587449 | 5:37,108,433 | G/A | — | uncertain significance |
| rs587783354 | 5:37,108,450 | G/A | — | uncertain significance |
| rs2546354762 | 5:37,108,460 | T/A | — | uncertain significance |
| rs2546354958 | 5:37,108,465 | A/C | — | uncertain significance |
| rs769382837 | 5:37,108,467 | A/C | — | likely benign |
| rs1222002652 | 5:37,108,478 | T/C | — | uncertain significance |
| rs1283043973 | 5:37,108,485 | C/T | — | likely benign |
| rs920693113 | 5:37,108,488 | T/C | — | likely benign |
| rs2149858484 | 5:37,108,493 | A/G | — | uncertain significance |
| rs775262984 | 5:37,108,494 | C/A | — | likely benign |
| rs1758149015 | 5:37,108,496 | C/T | — | uncertain significance |
| rs1758150788 | 5:37,108,501 | T/G | — | uncertain significance |
| rs770592302 | 5:37,108,503 | G/A | — | likely benign |
| rs768570313 | 5:37,108,507 | T/C | — | uncertain significance |
| rs774297305 | 5:37,108,508 | G/A | — | pathogenic |
| rs144081297 | 5:37,108,520 | C/T | — | conflicting classifications of pathogenicity |
| rs148666740 | 5:37,108,528 | C/T | — | uncertain significance |
| rs760642862 | 5:37,108,532 | G/A | — | uncertain significance |
| rs1219414305 | 5:37,108,542 | A/G | — | likely benign |
| rs754053320 | 5:37,108,543 | T/C | — | uncertain significance |
| rs377707922 | 5:37,108,560 | C/T | — | conflicting classifications of pathogenicity |
| rs747597826 | 5:37,108,561 | G/A | — | uncertain significance |
| rs144467995 | 5:37,108,562 | G/C | — | uncertain significance |
| rs773007704 | 5:37,108,586 | A/G | — | likely benign |
| rs143175058 | 5:37,114,862 | C/T | — | likely benign |
| rs1760485633 | 5:37,115,045 | T/C | — | likely benign |
| rs2546497769 | 5:37,115,046 | C/T | — | likely benign |
| rs770939035 | 5:37,115,050 | T/C | — | likely benign |
| rs2546498159 | 5:37,115,057 | C/T | — | uncertain significance |
| rs1270327235 | 5:37,115,058 | T/C | — | uncertain significance |
| rs770872753 | 5:37,115,067 | T/C | — | uncertain significance |
| rs554956977 | 5:37,115,073 | G/C | — | uncertain significance |
| rs1347117644 | 5:37,115,076 | A/G | — | uncertain significance |
| rs1374830797 | 5:37,115,082 | G/A | — | uncertain significance |
| rs759580516 | 5:37,115,086 | G/A | — | pathogenic |
| rs572694714 | 5:37,115,087 | C/T | — | likely benign |
| rs775560336 | 5:37,115,088 | G/A | — | uncertain significance |
| rs372396805 | 5:37,115,091 | G/A | — | uncertain significance |
| rs2546499768 | 5:37,115,092 | C/A | — | uncertain significance |
| rs1016289018 | 5:37,115,100 | A/C | — | uncertain significance |
| rs7702892 | 5:37,115,116 | C/T | — | benign |
| rs368603190 | 5:37,115,123 | T/C | — | likely benign |
| rs1349649894 | 5:37,115,124 | T/C | — | uncertain significance |
| rs1279382736 | 5:37,115,143 | T/C | — | uncertain significance |
| rs751011389 | 5:37,115,159 | G/T | — | likely benign |
Showing 100 of 1,785 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.