PITPNM2
phosphatidylinositol transfer protein membrane associated 2
Summary
PITPNM2 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12828755 | 12:123,470,586 | C/T | synonymous variant | — |
| rs750191461 | 12:123,470,588 | C/T | — | likely benign |
| rs962255166 | 12:123,470,608 | C/T | — | uncertain significance |
| rs993650230 | 12:123,470,609 | G/A | — | uncertain significance |
| rs977855119 | 12:123,470,649 | C/T | — | uncertain significance |
| rs1017607614 | 12:123,470,665 | C/G | — | uncertain significance |
| rs746342215 | 12:123,470,704 | C/T | — | uncertain significance |
| rs2037922014 | 12:123,470,713 | G/C | — | uncertain significance |
| rs1243446303 | 12:123,470,755 | C/T | — | uncertain significance |
| rs368519330 | 12:123,470,761 | C/T | — | uncertain significance |
| rs573069063 | 12:123,470,780 | C/T | — | uncertain significance |
| rs1021865340 | 12:123,470,803 | C/T | — | uncertain significance |
| rs1179506363 | 12:123,470,815 | C/T | — | uncertain significance |
| rs1411716430 | 12:123,470,816 | G/A | — | uncertain significance |
| rs544230636 | 12:123,470,830 | C/T | — | uncertain significance |
| rs746643450 | 12:123,470,831 | G/A | — | uncertain significance |
| rs763155619 | 12:123,470,842 | G/A | — | uncertain significance |
| rs749727607 | 12:123,470,879 | C/T | — | uncertain significance |
| rs12811109 | 12:123,471,094 | G/A | synonymous variant | — |
| rs2547537109 | 12:123,471,226 | G/C | — | uncertain significance |
| rs1219187975 | 12:123,471,246 | C/T | — | uncertain significance |
| rs199848793 | 12:123,471,270 | C/T | — | uncertain significance |
| rs147284580 | 12:123,471,883 | C/T | — | uncertain significance |
| rs2037980618 | 12:123,471,889 | C/T | — | uncertain significance |
| rs769401799 | 12:123,471,958 | C/A | — | uncertain significance |
| rs1324277127 | 12:123,472,164 | G/A | — | uncertain significance |
| rs141122543 | 12:123,472,168 | C/A | — | uncertain significance |
| rs1380191154 | 12:123,472,372 | A/G | — | uncertain significance |
| rs549992144 | 12:123,472,792 | C/T | — | uncertain significance |
| rs760983901 | 12:123,472,845 | G/A | — | uncertain significance |
| rs2136055928 | 12:123,473,377 | A/G | — | uncertain significance |
| rs199659132 | 12:123,474,384 | C/T | — | uncertain significance |
| rs2547557410 | 12:123,474,393 | C/T | — | uncertain significance |
| rs2547557506 | 12:123,474,402 | G/A | — | uncertain significance |
| rs544874376 | 12:123,474,456 | C/T | — | uncertain significance |
| rs763778187 | 12:123,474,463 | C/T | — | uncertain significance |
| rs758915042 | 12:123,475,112 | G/A | — | uncertain significance |
| rs755675755 | 12:123,475,212 | C/T | — | likely benign |
| rs762225537 | 12:123,476,305 | C/T | — | uncertain significance |
| rs879198026 | 12:123,477,054 | G/A | — | uncertain significance |
| rs529592824 | 12:123,477,108 | G/A | — | uncertain significance |
| rs767770470 | 12:123,479,461 | T/A | — | uncertain significance |
| rs751294396 | 12:123,479,482 | G/C | — | uncertain significance |
| rs2547586160 | 12:123,479,955 | G/A | — | uncertain significance |
| rs2038383765 | 12:123,480,026 | T/A | — | uncertain significance |
| rs769387322 | 12:123,480,027 | C/T | — | uncertain significance |
| rs771962751 | 12:123,480,132 | C/T | — | uncertain significance |
| rs147212495 | 12:123,481,019 | C/T | — | likely benign |
| rs778051480 | 12:123,481,275 | T/C | — | uncertain significance |
| rs372041956 | 12:123,481,329 | C/T | — | uncertain significance |
| rs1353832596 | 12:123,481,432 | C/T | — | uncertain significance |
| rs369062689 | 12:123,481,891 | C/T | — | uncertain significance |
| rs377042946 | 12:123,481,903 | C/T | — | likely benign |
| rs200037826 | 12:123,481,923 | C/T | — | uncertain significance |
| rs769659377 | 12:123,481,936 | G/A | — | uncertain significance |
| rs750821826 | 12:123,481,950 | G/A | — | uncertain significance |
| rs2547596471 | 12:123,481,983 | T/G | — | likely benign |
| rs150645020 | 12:123,481,987 | C/T | — | uncertain significance |
| rs377650274 | 12:123,482,019 | G/A | — | uncertain significance |
| rs760973250 | 12:123,482,029 | C/T | — | likely benign |
| rs883263 | 12:123,485,188 | A/G | intron variant | — |
| rs369790981 | 12:123,485,383 | C/A | — | uncertain significance |
| rs2547615424 | 12:123,485,669 | T/C | — | uncertain significance |
| rs148826908 | 12:123,485,694 | C/T | — | uncertain significance |
| rs781701231 | 12:123,488,979 | G/A | — | uncertain significance |
| rs373594165 | 12:123,489,024 | C/T | — | uncertain significance |
| rs79347622 | 12:123,489,804 | C/T | — | uncertain significance |
| rs1364916494 | 12:123,489,853 | C/T | — | uncertain significance |
| rs755853411 | 12:123,489,870 | C/G | — | uncertain significance |
| rs568994551 | 12:123,489,913 | C/T | — | uncertain significance |
| rs2547656286 | 12:123,494,497 | C/A | — | uncertain significance |
| rs201145774 | 12:123,494,520 | C/T | — | uncertain significance |
| rs767458627 | 12:123,494,602 | G/T | — | uncertain significance |
| rs753065615 | 12:123,497,247 | C/A | — | uncertain significance |
| rs2547673326 | 12:123,498,445 | A/C | — | uncertain significance |
| rs186407219 | 12:123,510,055 | A/G | intron variant | — |
| rs1727307 | 12:123,575,742 | A/T | — | — |
| rs78753733 | 12:123,612,436 | A/G | regulatory region variant | — |
| rs1727294 | 12:123,616,514 | A/G | regulatory region variant | — |
| rs6488864 | 12:123,618,362 | G/T | — | — |
| rs1619561 | 12:123,620,268 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.