ARL13B
ARF like GTPase 13B
Summary
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Known Variants279 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs115309126 | 3:93,697,235 | A/C | — | — |
| rs61023331 | 3:93,698,757 | T/A | — | likely benign |
| rs117318079 | 3:93,698,936 | G/T | — | likely benign |
| rs143828740 | 3:93,699,005 | C/T | — | likely benign |
| rs114936013 | 3:93,699,034 | G/T | — | benign |
| rs199505618 | 3:93,699,218 | C/A | — | likely benign |
| rs555792435 | 3:93,699,272 | T/G | — | conflicting classifications of pathogenicity |
| rs2107299111 | 3:93,699,273 | C/T | — | likely benign |
| rs1575912966 | 3:93,699,279 | G/C | — | likely benign |
| rs747800604 | 3:93,699,280 | A/T | — | uncertain significance |
| rs572660435 | 3:93,699,285 | C/T | — | likely benign |
| rs1360370074 | 3:93,699,287 | G/A | — | uncertain significance |
| rs1292813768 | 3:93,699,289 | T/G | — | uncertain significance |
| rs375770842 | 3:93,699,297 | C/T | — | conflicting classifications of pathogenicity |
| rs1163274036 | 3:93,699,308 | G/A | — | uncertain significance |
| rs369280324 | 3:93,699,322 | G/A | — | uncertain significance |
| rs1326813345 | 3:93,699,324 | C/A | — | conflicting classifications of pathogenicity |
| rs1710156502 | 3:93,699,327 | G/A | — | likely pathogenic |
| rs183229189 | 3:93,699,334 | G/A | — | likely benign |
| rs762514257 | 3:93,699,340 | A/G | — | likely benign |
| rs1306361360 | 3:93,699,341 | G/A | — | likely benign |
| rs1291271388 | 3:93,699,342 | C/G | — | conflicting classifications of pathogenicity |
| rs748002391 | 3:93,699,344 | G/C | — | likely benign |
| rs757994933 | 3:93,699,346 | C/G | — | likely benign |
| rs2107383939 | 3:93,714,698 | T/A | — | likely benign |
| rs1339124703 | 3:93,714,699 | A/T | — | likely benign |
| rs1575942307 | 3:93,714,700 | A/G | — | likely benign |
| rs765240700 | 3:93,714,718 | A/G | — | conflicting classifications of pathogenicity |
| rs752373152 | 3:93,714,722 | G/A | — | uncertain significance |
| rs863225149 | 3:93,714,723 | T/G | missense variant | pathogenic |
| rs777393140 | 3:93,714,728 | C/T | — | uncertain significance |
| rs746717195 | 3:93,714,734 | A/G | — | uncertain significance |
| rs2471926731 | 3:93,714,737 | G/A | — | uncertain significance |
| rs1559971349 | 3:93,714,745 | T/G | — | likely benign |
| rs2471926773 | 3:93,714,747 | A/G | — | uncertain significance |
| rs2471926792 | 3:93,714,752 | G/A | — | uncertain significance |
| rs146396078 | 3:93,714,763 | C/T | — | likely benign |
| rs139780924 | 3:93,714,764 | G/A | — | conflicting classifications of pathogenicity |
| rs2471926907 | 3:93,714,766 | A/G | — | likely benign |
| rs774691904 | 3:93,714,778 | A/G | — | likely benign |
| rs767808094 | 3:93,714,785 | G/C | — | uncertain significance |
| rs200527262 | 3:93,714,795 | T/C | — | likely benign |
| rs2471927076 | 3:93,714,796 | G/A | — | likely benign |
| rs11718593 | 3:93,715,030 | C/T | — | likely benign |
| rs543349219 | 3:93,715,514 | G/A | — | benign |
| rs79101254 | 3:93,722,208 | A/G | — | benign |
| rs1320529150 | 3:93,722,492 | A/G | — | likely benign |
| rs2471954245 | 3:93,722,494 | T/C | — | likely benign |
| rs373604132 | 3:93,722,502 | G/T | — | pathogenic |
| rs1431090403 | 3:93,722,526 | A/G | — | uncertain significance |
| rs777838538 | 3:93,722,541 | A/G | — | uncertain significance |
| rs776646616 | 3:93,722,567 | T/G | — | uncertain significance |
| rs2471954855 | 3:93,722,572 | T/G | — | uncertain significance |
| rs759625669 | 3:93,722,574 | A/C | — | uncertain significance |
| rs774341143 | 3:93,722,577 | A/G | — | uncertain significance |
| rs1481744412 | 3:93,722,578 | T/A | — | uncertain significance |
| rs2076089782 | 3:93,722,583 | G/A | — | uncertain significance |
| rs2107435658 | 3:93,722,586 | T/G | — | uncertain significance |
| rs2076089885 | 3:93,722,593 | G/A | — | uncertain significance |
| rs1378981995 | 3:93,722,595 | G/A | — | pathogenic |
| rs2076090139 | 3:93,722,605 | T/C | — | uncertain significance |
| rs121912606 | 3:93,722,608 | G/A | missense variant | pathogenic |
| rs2076090280 | 3:93,722,610 | G/A | — | uncertain significance |
| rs121912607 | 3:93,722,618 | G/A | stop gained | pathogenic |
| rs863225430 | 3:93,722,629 | A/G | missense variant | pathogenic |
| rs766151209 | 3:93,722,641 | A/G | — | uncertain significance |
| rs753336861 | 3:93,722,642 | T/C | — | likely benign |
| rs2471955552 | 3:93,722,649 | A/G | — | uncertain significance |
| rs765833452 | 3:93,722,658 | G/T | — | uncertain significance |
| rs1013644884 | 3:93,722,677 | A/T | — | uncertain significance |
| rs1025041382 | 3:93,722,680 | G/T | — | uncertain significance |
| rs757443869 | 3:93,722,691 | A/G | — | uncertain significance |
| rs1258750655 | 3:93,722,732 | A/G | — | uncertain significance |
| rs887056386 | 3:93,722,734 | C/T | — | uncertain significance |
| rs771933896 | 3:93,722,751 | G/T | — | uncertain significance |
| rs1367254699 | 3:93,722,760 | A/T | — | likely benign |
| rs773010332 | 3:93,722,762 | G/A | — | likely benign |
| rs1016476537 | 3:93,722,771 | A/T | — | likely benign |
| rs147980419 | 3:93,722,788 | G/A | — | likely benign |
| rs188709967 | 3:93,753,941 | C/T | — | likely benign |
| rs140290819 | 3:93,754,191 | G/T | — | uncertain significance |
| rs2107111382 | 3:93,754,200 | G/A | — | uncertain significance |
| rs745962638 | 3:93,754,209 | G/A | — | uncertain significance |
| rs529580146 | 3:93,754,216 | C/G | — | conflicting classifications of pathogenicity |
| rs2107111571 | 3:93,754,223 | C/T | — | likely benign |
| rs202125140 | 3:93,754,230 | T/G | — | conflicting classifications of pathogenicity |
| rs865931355 | 3:93,754,231 | G/A | — | uncertain significance |
| rs148354827 | 3:93,754,235 | A/G | — | likely benign |
| rs377049117 | 3:93,754,248 | T/C | — | likely benign |
| rs758972393 | 3:93,754,255 | A/G | missense variant | pathogenic |
| rs763345333 | 3:93,754,260 | C/T | — | uncertain significance |
| rs540645605 | 3:93,754,271 | G/T | — | likely benign |
| rs757417843 | 3:93,754,273 | G/A | — | uncertain significance |
| rs1576026230 | 3:93,754,279 | T/C | — | uncertain significance |
| rs750515411 | 3:93,754,288 | T/G | — | likely benign |
| rs367759389 | 3:93,754,291 | T/G | — | likely benign |
| rs778884829 | 3:93,754,292 | T/G | — | likely benign |
| rs748072722 | 3:93,754,293 | T/G | — | likely benign |
| rs2076751183 | 3:93,754,295 | T/A | — | likely benign |
| rs1446715428 | 3:93,755,380 | T/C | — | likely benign |
Showing 100 of 279 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.