| 405257447 | CV3201520 | duplication | NM_001198533.2(OXR1):c.221-3dup | OXR1-related disorder [RCV003892294] | likely benign | 8 | 106679204 | 106679205 | Human | | name , trait , alternate_id |
| 152156896 | CV1668810 | single nucleotide variant | NM_001198533.2(OXR1):c.2037+3G>A | not provided [RCV005254029]|not specified [RCV002223036] | uncertain significance | 8 | 106737603 | 106737603 | Human | | name |
| 156242645 | CV2246254 | single nucleotide variant | NM_001198533.2(OXR1):c.1793+4A>G | Inborn genetic diseases [RCV002768358] | uncertain significance | 8 | 106710794 | 106710794 | Human | 1 | name |
| 596931380 | CV3531716 | duplication | NM_001198533.2(OXR1):c.1624+2dup | not provided [RCV004781278] | uncertain significance | 8 | 106707146 | 106707147 | Human | | name |
| 21076079 | CV682315 | single nucleotide variant | NM_001198533.2(OXR1):c.2163+1G>T | Congenital cerebellar hypoplasia [RCV000993803] | pathogenic | 8 | 106739584 | 106739584 | Human | 2 | name |
| 28912119 | CV682316 | single nucleotide variant | NM_001198533.2(OXR1):c.2317-1G>C | Congenital cerebellar hypoplasia [RCV000993806]|Seizure [RCV000856835] | pathogenic|likely pathogenic | 8 | 106742221 | 106742221 | Human | 4 | name |
| 42723762 | CV984675 | single nucleotide variant | NM_001198533.2(OXR1):c.2163+5G>A | Congenital cerebellar hypoplasia [RCV001291778] | uncertain significance | 8 | 106739588 | 106739588 | Human | 2 | name |
| 155796723 | CV1862988 | single nucleotide variant | NM_001198533.2(OXR1):c.221-21184C>T | Congenital cerebellar hypoplasia [RCV002470262] | uncertain significance | 8 | 106658026 | 106658026 | Human | 2 | name |
| 155990599 | CV2280966 | single nucleotide variant | NM_001198533.2(OXR1):c.221-21120G>A | Inborn genetic diseases [RCV002882405] | uncertain significance | 8 | 106658090 | 106658090 | Human | 1 | name |
| 596931381 | CV3531717 | single nucleotide variant | NM_001198533.2(OXR1):c.221-21196A>G | not provided [RCV004781279] | uncertain significance | 8 | 106658014 | 106658014 | Human | | name |
| 8649713 | CV126287 | single nucleotide variant | NM_001198533.1(OXR1):c.-138-12479C>T | Lung cancer [RCV000106774] | uncertain significance | 8 | 106346997 | 106346997 | Human | | name |
| 8649714 | CV126288 | single nucleotide variant | NM_001198532.1(OXR1):c.1960-11515A>T | Lung cancer [RCV000106775] | uncertain significance | 8 | 106726005 | 106726005 | Human | | name |
| 156277631 | CV2252019 | single nucleotide variant | NM_001198533.2(OXR1):c.1957-11269G>A | Inborn genetic diseases [RCV002792874] | uncertain significance | 8 | 106726251 | 106726251 | Human | 1 | name |
| 243064077 | CV2408472 | single nucleotide variant | NM_001198533.2(OXR1):c.1957-11262G>A | Congenital cerebellar hypoplasia [RCV003142657]|OXR1-related disorder [RCV003966275]|not provided [RCV003434699] | likely benign|uncertain significance | 8 | 106726258 | 106726258 | Human | 3 | name , trait , alternate_id |
| 598227817 | CV3896041 | deletion | NM_001198533.2(OXR1):c.1957-11247del | Congenital cerebellar hypoplasia [RCV005362296] | uncertain significance | 8 | 106726271 | 106726271 | Human | 2 | name |
| 405258442 | CV3203803 | deletion | NM_001198533.2(OXR1):c.526-4_526-2del | OXR1-related disorder [RCV003941975] | likely benign | 8 | 106692713 | 106692715 | Human | | name , trait , alternate_id |
| 617152590 | CV4020810 | single nucleotide variant | NM_001198533.2(OXR1):c.618G>A (p.Glu206=) | not provided [RCV005428563] | likely benign | 8 | 106692820 | 106692820 | Human | | name |
| 151233842 | CV1317483 | single nucleotide variant | NM_001198533.2(OXR1):c.2340G>A (p.Glu780=) | Congenital cerebellar hypoplasia [RCV001788861]|not provided [RCV004713101] | benign | 8 | 106742245 | 106742245 | Human | 2 | name |
| 155642625 | CV1670259 | single nucleotide variant | NM_001198533.2(OXR1):c.233A>G (p.Lys78Arg) | Hearing impairment [RCV002292448]|not provided [RCV003225223] | likely pathogenic|uncertain significance | 8 | 106679222 | 106679222 | Human | 2 | name |
| 156098635 | CV2294566 | single nucleotide variant | NM_001198533.2(OXR1):c.131C>A (p.Thr44Asn) | Inborn genetic diseases [RCV002870297] | uncertain significance | 8 | 106519050 | 106519050 | Human | 1 | name |
| 401764376 | CV2708876 | single nucleotide variant | NM_001198533.2(OXR1):c.106G>A (p.Ala36Thr) | Inborn genetic diseases [RCV003281826] | uncertain significance | 8 | 106519025 | 106519025 | Human | 1 | name |
| 405738873 | CV3371179 | single nucleotide variant | NM_001198533.2(OXR1):c.281C>G (p.Pro94Arg) | Inborn genetic diseases [RCV004497428] | uncertain significance | 8 | 106679270 | 106679270 | Human | 1 | name |
| 598128761 | CV3886558 | single nucleotide variant | NM_001198533.2(OXR1):c.1662A>G (p.Leu554=) | not provided [RCV005244218] | likely benign | 8 | 106710659 | 106710659 | Human | | name |
| 598223274 | CV3893985 | single nucleotide variant | NM_001198533.2(OXR1):c.1707G>A (p.Thr569=) | not provided [RCV005257228] | likely benign | 8 | 106710704 | 106710704 | Human | | name |
| 156313313 | CV2196485 | single nucleotide variant | NM_001198533.2(OXR1):c.931A>G (p.Ile311Val) | Inborn genetic diseases [RCV002648354] | uncertain significance | 8 | 106706452 | 106706452 | Human | 1 | name |
| 156180321 | CV2201727 | single nucleotide variant | NM_001198533.2(OXR1):c.909G>T (p.Met303Ile) | Inborn genetic diseases [RCV002665261] | uncertain significance | 8 | 106706430 | 106706430 | Human | 1 | name |
| 156069465 | CV2203791 | single nucleotide variant | NM_001198533.2(OXR1):c.872A>T (p.Gln291Leu) | Inborn genetic diseases [RCV002660155] | uncertain significance | 8 | 106706393 | 106706393 | Human | 1 | name |
| 156242711 | CV2210747 | single nucleotide variant | NM_001198533.2(OXR1):c.595G>C (p.Val199Leu) | Inborn genetic diseases [RCV002701942] | uncertain significance | 8 | 106692797 | 106692797 | Human | 1 | name |
| 156224806 | CV2219456 | single nucleotide variant | NM_001198533.2(OXR1):c.524C>T (p.Thr175Ile) | Inborn genetic diseases [RCV002712366] | uncertain significance | 8 | 106684358 | 106684358 | Human | 1 | name |
| 156292643 | CV2233472 | single nucleotide variant | NM_001198533.2(OXR1):c.947G>A (p.Arg316Gln) | Inborn genetic diseases [RCV002747888] | uncertain significance | 8 | 106706468 | 106706468 | Human | 1 | name |
| 156074641 | CV2247886 | single nucleotide variant | NM_001198533.2(OXR1):c.575G>A (p.Gly192Asp) | Inborn genetic diseases [RCV002797597] | uncertain significance | 8 | 106692777 | 106692777 | Human | 1 | name |
| 155966415 | CV2304745 | single nucleotide variant | NM_001198533.2(OXR1):c.625T>A (p.Phe209Ile) | Inborn genetic diseases [RCV002906522]|not provided [RCV003236954] | uncertain significance | 8 | 106692827 | 106692827 | Human | 1 | name |
| 156063009 | CV2352681 | single nucleotide variant | NM_001198533.2(OXR1):c.866T>C (p.Ile289Thr) | Inborn genetic diseases [RCV002978476] | uncertain significance | 8 | 106706387 | 106706387 | Human | 1 | name |
| 156052526 | CV2363449 | single nucleotide variant | NM_001198533.2(OXR1):c.614A>C (p.Glu205Ala) | Inborn genetic diseases [RCV002692933] | uncertain significance | 8 | 106692816 | 106692816 | Human | 1 | name |
| 329389740 | CV2445354 | single nucleotide variant | NM_001198533.2(OXR1):c.694C>A (p.Leu232Met) | Inborn genetic diseases [RCV003191268] | uncertain significance | 8 | 106702924 | 106702924 | Human | 1 | name |
| 329952599 | CV2671849 | single nucleotide variant | NM_001198533.2(OXR1):c.959A>G (p.Asn320Ser) | not provided [RCV003237246] | uncertain significance | 8 | 106706480 | 106706480 | Human | | name |
| 405738878 | CV3371180 | single nucleotide variant | NM_001198533.2(OXR1):c.493A>G (p.Thr165Ala) | Inborn genetic diseases [RCV004497429] | uncertain significance | 8 | 106684327 | 106684327 | Human | 1 | name |
| 405738886 | CV3371181 | single nucleotide variant | NM_001198533.2(OXR1):c.539A>C (p.His180Pro) | Inborn genetic diseases [RCV004497430] | uncertain significance | 8 | 106692741 | 106692741 | Human | 1 | name |
| 405738891 | CV3371182 | single nucleotide variant | NM_001198533.2(OXR1):c.581G>A (p.Arg194Gln) | Inborn genetic diseases [RCV004497431] | uncertain significance | 8 | 106692783 | 106692783 | Human | 1 | name |
| 405738900 | CV3371183 | single nucleotide variant | NM_001198533.2(OXR1):c.608C>T (p.Ser203Phe) | Inborn genetic diseases [RCV004497432] | uncertain significance | 8 | 106692810 | 106692810 | Human | 1 | name |
| 405738907 | CV3371184 | single nucleotide variant | NM_001198533.2(OXR1):c.847G>A (p.Glu283Lys) | Congenital cerebellar hypoplasia [RCV005392809]|Inborn genetic diseases [RCV004497433] | uncertain significance | 8 | 106703077 | 106703077 | Human | 3 | name |
| 407478613 | CV3469938 | single nucleotide variant | NM_001198533.2(OXR1):c.643A>C (p.Lys215Gln) | Inborn genetic diseases [RCV004663941] | uncertain significance | 8 | 106692845 | 106692845 | Human | 1 | name |
| 407478623 | CV3469940 | single nucleotide variant | NM_001198533.2(OXR1):c.821A>G (p.Lys274Arg) | Inborn genetic diseases [RCV004663943] | uncertain significance | 8 | 106703051 | 106703051 | Human | 1 | name |
| 407478637 | CV3469943 | single nucleotide variant | NM_001198533.2(OXR1):c.622G>A (p.Ala208Thr) | Inborn genetic diseases [RCV004663946] | uncertain significance | 8 | 106692824 | 106692824 | Human | 1 | name |
| 597702048 | CV3568102 | single nucleotide variant | NM_001198533.2(OXR1):c.763T>C (p.Cys255Arg) | Inborn genetic diseases [RCV004956774] | uncertain significance | 8 | 106702993 | 106702993 | Human | 1 | name |
| 597702062 | CV3568104 | single nucleotide variant | NM_001198533.2(OXR1):c.350C>G (p.Thr117Arg) | Inborn genetic diseases [RCV004956776] | uncertain significance | 8 | 106683245 | 106683245 | Human | 1 | name |
| 597702079 | CV3568106 | single nucleotide variant | NM_001198533.2(OXR1):c.758A>G (p.Asn253Ser) | Inborn genetic diseases [RCV004956778] | uncertain significance | 8 | 106702988 | 106702988 | Human | 1 | name |
| 597702112 | CV3578062 | single nucleotide variant | NM_001198533.2(OXR1):c.508G>C (p.Glu170Gln) | Inborn genetic diseases [RCV004956782] | uncertain significance | 8 | 106684342 | 106684342 | Human | 1 | name |
| 597702149 | CV3578067 | single nucleotide variant | NM_001198533.2(OXR1):c.928G>A (p.Glu310Lys) | Inborn genetic diseases [RCV004956787] | uncertain significance | 8 | 106706449 | 106706449 | Human | 1 | name |
| 597702171 | CV3578070 | single nucleotide variant | NM_001198533.2(OXR1):c.532G>A (p.Asp178Asn) | Inborn genetic diseases [RCV004956790] | uncertain significance | 8 | 106692734 | 106692734 | Human | 1 | name |
| 598184338 | CV3995798 | single nucleotide variant | NM_001198533.2(OXR1):c.929A>T (p.Glu310Val) | Inborn genetic diseases [RCV005395435] | uncertain significance | 8 | 106706450 | 106706450 | Human | 1 | name |
| 598163143 | CV3995800 | single nucleotide variant | NM_001198533.2(OXR1):c.952G>A (p.Ala318Thr) | Inborn genetic diseases [RCV005390936] | uncertain significance | 8 | 106706473 | 106706473 | Human | 1 | name |
| 598184355 | CV3995802 | single nucleotide variant | NM_001198533.2(OXR1):c.673A>G (p.Lys225Glu) | Inborn genetic diseases [RCV005395438] | uncertain significance | 8 | 106692875 | 106692875 | Human | 1 | name |
| 598163146 | CV3995803 | single nucleotide variant | NM_001198533.2(OXR1):c.442T>G (p.Ser148Ala) | Inborn genetic diseases [RCV005390937] | uncertain significance | 8 | 106684276 | 106684276 | Human | 1 | name |
| 28912118 | CV682314 | deletion | NM_001198533.2(OXR1):c.1324del (p.Ser442fs) | Congenital cerebellar hypoplasia [RCV000993805]|Seizure [RCV000856834] | pathogenic|likely pathogenic | 8 | 106706844 | 106706844 | Human | 4 | name |
| 8632771 | CV87986 | single nucleotide variant | NM_001198532.1(OXR1):c.560C>T (p.Pro187Leu) | Malignant melanoma [RCV000068078] | not provided | 8 | 106692759 | 106692759 | Human | | name |
| 151788453 | CV1387028 | single nucleotide variant | NM_001198533.2(OXR1):c.1643A>G (p.Glu548Gly) | not provided [RCV001931168] | uncertain significance | 8 | 106710640 | 106710640 | Human | | name |
| 156166234 | CV2200894 | single nucleotide variant | NM_001198533.2(OXR1):c.1664A>G (p.His555Arg) | Inborn genetic diseases [RCV002664462] | uncertain significance | 8 | 106710661 | 106710661 | Human | 1 | name |
| 156112991 | CV2212634 | single nucleotide variant | NM_001198533.2(OXR1):c.2569T>C (p.Ser857Pro) | Inborn genetic diseases [RCV002707329] | uncertain significance | 8 | 106750888 | 106750888 | Human | 1 | name |
| 156105219 | CV2217541 | single nucleotide variant | NM_001198533.2(OXR1):c.1052T>G (p.Leu351Arg) | Inborn genetic diseases [RCV002706842] | uncertain significance | 8 | 106706573 | 106706573 | Human | 1 | name |
| 156276223 | CV2230461 | single nucleotide variant | NM_001198533.2(OXR1):c.1232A>C (p.Lys411Thr) | Inborn genetic diseases [RCV002746809] | uncertain significance | 8 | 106706753 | 106706753 | Human | 1 | name |
| 155983443 | CV2240734 | single nucleotide variant | NM_001198533.2(OXR1):c.1753G>C (p.Asp585His) | Inborn genetic diseases [RCV002777924] | uncertain significance | 8 | 106710750 | 106710750 | Human | 1 | name |
| 156195556 | CV2251868 | single nucleotide variant | NM_001198533.2(OXR1):c.1294G>C (p.Gly432Arg) | Inborn genetic diseases [RCV002803125] | uncertain significance | 8 | 106706815 | 106706815 | Human | 1 | name |
| 155966229 | CV2261890 | single nucleotide variant | NM_001198533.2(OXR1):c.2269G>A (p.Gly757Ser) | Inborn genetic diseases [RCV002817294] | uncertain significance | 8 | 106740448 | 106740448 | Human | 1 | name |
| 156050470 | CV2271880 | single nucleotide variant | NM_001198533.2(OXR1):c.1033T>C (p.Ser345Pro) | Inborn genetic diseases [RCV002822297] | uncertain significance | 8 | 106706554 | 106706554 | Human | 1 | name |
| 156205787 | CV2311458 | single nucleotide variant | NM_001198533.2(OXR1):c.2175T>A (p.His725Gln) | Inborn genetic diseases [RCV002893440] | uncertain significance | 8 | 106740354 | 106740354 | Human | 1 | name |
| 156066336 | CV2317836 | single nucleotide variant | NM_001198533.2(OXR1):c.2014C>T (p.Arg672Cys) | Inborn genetic diseases [RCV002925357] | uncertain significance | 8 | 106737577 | 106737577 | Human | 1 | name |
| 155972797 | CV2335845 | single nucleotide variant | NM_001198533.2(OXR1):c.2173C>T (p.His725Tyr) | Inborn genetic diseases [RCV002973135] | uncertain significance | 8 | 106740352 | 106740352 | Human | 1 | name |
| 243051073 | CV2415685 | single nucleotide variant | NM_001198533.2(OXR1):c.2308G>A (p.Asp770Asn) | Congenital cerebellar hypoplasia [RCV003148291] | uncertain significance | 8 | 106740487 | 106740487 | Human | 2 | name |
| 329396346 | CV2462537 | single nucleotide variant | NM_001198533.2(OXR1):c.2128C>A (p.Pro710Thr) | Inborn genetic diseases [RCV003194924] | uncertain significance | 8 | 106739548 | 106739548 | Human | 1 | name |
| 401741971 | CV2697669 | single nucleotide variant | NM_001198533.2(OXR1):c.2128C>T (p.Pro710Ser) | Inborn genetic diseases [RCV003274722] | uncertain significance | 8 | 106739548 | 106739548 | Human | 1 | name |
| 401759586 | CV2712578 | single nucleotide variant | NM_001198533.2(OXR1):c.1898T>C (p.Ile633Thr) | Inborn genetic diseases [RCV003299256] | uncertain significance | 8 | 106713927 | 106713927 | Human | 1 | name |
| 401742706 | CV2715298 | single nucleotide variant | NM_001198533.2(OXR1):c.1633C>T (p.Leu545Phe) | Inborn genetic diseases [RCV003292897] | uncertain significance | 8 | 106710630 | 106710630 | Human | 1 | name |
| 401766063 | CV2717992 | single nucleotide variant | NM_001198533.2(OXR1):c.2027G>T (p.Arg676Ile) | Inborn genetic diseases [RCV003282443] | uncertain significance | 8 | 106737590 | 106737590 | Human | 1 | name |
| 401739667 | CV2738611 | single nucleotide variant | NM_001198533.2(OXR1):c.1329A>G (p.Ile443Met) | not provided [RCV003318005] | uncertain significance | 8 | 106706850 | 106706850 | Human | | name |
| 401867825 | CV2767092 | single nucleotide variant | NM_001198533.2(OXR1):c.1982G>A (p.Arg661His) | Inborn genetic diseases [RCV003345284] | uncertain significance | 8 | 106737545 | 106737545 | Human | 1 | name |
| 405691598 | CV3227565 | single nucleotide variant | NM_001198533.2(OXR1):c.1028A>G (p.Glu343Gly) | Congenital cerebellar hypoplasia [RCV003991910] | uncertain significance | 8 | 106706549 | 106706549 | Human | 2 | name |
| 405738840 | CV3371174 | single nucleotide variant | NM_001198533.2(OXR1):c.1439A>G (p.Gln480Arg) | Inborn genetic diseases [RCV004497423] | uncertain significance | 8 | 106706960 | 106706960 | Human | 1 | name |
| 405738847 | CV3371175 | single nucleotide variant | NM_001198533.2(OXR1):c.1700G>A (p.Arg567Lys) | Inborn genetic diseases [RCV004497424] | uncertain significance | 8 | 106710697 | 106710697 | Human | 1 | name |
| 405738854 | CV3371176 | single nucleotide variant | NM_001198533.2(OXR1):c.1729A>G (p.Thr577Ala) | Inborn genetic diseases [RCV004497425] | uncertain significance | 8 | 106710726 | 106710726 | Human | 1 | name |
| 405738861 | CV3371177 | single nucleotide variant | NM_001198533.2(OXR1):c.2050G>A (p.Glu684Lys) | Inborn genetic diseases [RCV004497426] | uncertain significance | 8 | 106739470 | 106739470 | Human | 1 | name |
| 405738868 | CV3371178 | single nucleotide variant | NM_001198533.2(OXR1):c.2162A>G (p.Lys721Arg) | Inborn genetic diseases [RCV004497427] | uncertain significance | 8 | 106739582 | 106739582 | Human | 1 | name |
| 407517273 | CV3469936 | single nucleotide variant | NM_001198533.2(OXR1):c.1293A>C (p.Gln431His) | Inborn genetic diseases [RCV004650610] | uncertain significance | 8 | 106706814 | 106706814 | Human | 1 | name |
| 407478611 | CV3469937 | single nucleotide variant | NM_001198533.2(OXR1):c.1040T>C (p.Ile347Thr) | Inborn genetic diseases [RCV004663940] | uncertain significance | 8 | 106706561 | 106706561 | Human | 1 | name |
| 407478617 | CV3469939 | single nucleotide variant | NM_001198533.2(OXR1):c.2198A>G (p.Tyr733Cys) | Inborn genetic diseases [RCV004663942] | uncertain significance | 8 | 106740377 | 106740377 | Human | 1 | name |
| 407478628 | CV3469941 | single nucleotide variant | NM_001198533.2(OXR1):c.2438T>C (p.Met813Thr) | Inborn genetic diseases [RCV004663944] | uncertain significance | 8 | 106745814 | 106745814 | Human | 1 | name |
| 407478633 | CV3469942 | single nucleotide variant | NM_001198533.2(OXR1):c.1919A>G (p.Glu640Gly) | Inborn genetic diseases [RCV004663945] | uncertain significance | 8 | 106713948 | 106713948 | Human | 1 | name |
| 407478641 | CV3469944 | single nucleotide variant | NM_001198533.2(OXR1):c.1283A>G (p.Asp428Gly) | Inborn genetic diseases [RCV004663947] | uncertain significance | 8 | 106706804 | 106706804 | Human | 1 | name |
| 597702056 | CV3568103 | single nucleotide variant | NM_001198533.2(OXR1):c.1840T>C (p.Tyr614His) | Inborn genetic diseases [RCV004956775] | uncertain significance | 8 | 106713869 | 106713869 | Human | 1 | name |
| 597702088 | CV3568107 | single nucleotide variant | NM_001198533.2(OXR1):c.1300T>G (p.Ser434Ala) | Inborn genetic diseases [RCV004956779] | uncertain significance | 8 | 106706821 | 106706821 | Human | 1 | name |
| 597702095 | CV3568108 | single nucleotide variant | NM_001198533.2(OXR1):c.2476G>A (p.Gly826Ser) | Inborn genetic diseases [RCV004956780] | uncertain significance | 8 | 106745852 | 106745852 | Human | 1 | name |
| 597702104 | CV3568109 | single nucleotide variant | NM_001198533.2(OXR1):c.1304G>A (p.Gly435Asp) | Inborn genetic diseases [RCV004956781] | likely benign | 8 | 106706825 | 106706825 | Human | 1 | name |
| 597702120 | CV3578063 | single nucleotide variant | NM_001198533.2(OXR1):c.1360C>T (p.His454Tyr) | Inborn genetic diseases [RCV004956783] | uncertain significance | 8 | 106706881 | 106706881 | Human | 1 | name |
| 597702129 | CV3578064 | single nucleotide variant | NM_001198533.2(OXR1):c.1834G>A (p.Glu612Lys) | Inborn genetic diseases [RCV004956784] | uncertain significance | 8 | 106713863 | 106713863 | Human | 1 | name |
| 597702137 | CV3578065 | single nucleotide variant | NM_001198533.2(OXR1):c.1390C>A (p.Gln464Lys) | Inborn genetic diseases [RCV004956785] | likely benign | 8 | 106706911 | 106706911 | Human | 1 | name |
| 597702142 | CV3578066 | single nucleotide variant | NM_001198533.2(OXR1):c.2405A>C (p.Glu802Ala) | Inborn genetic diseases [RCV004956786] | uncertain significance | 8 | 106742310 | 106742310 | Human | 1 | name |
| 597702157 | CV3578068 | single nucleotide variant | NM_001198533.2(OXR1):c.1166G>C (p.Gly389Ala) | Inborn genetic diseases [RCV004956788] | uncertain significance | 8 | 106706687 | 106706687 | Human | 1 | name |
| 597702164 | CV3578069 | single nucleotide variant | NM_001198533.2(OXR1):c.2221A>G (p.Thr741Ala) | Inborn genetic diseases [RCV004956789] | uncertain significance | 8 | 106740400 | 106740400 | Human | 1 | name |
| 598184344 | CV3995799 | single nucleotide variant | NM_001198533.2(OXR1):c.2099C>T (p.Ser700Phe) | Inborn genetic diseases [RCV005395436] | uncertain significance | 8 | 106739519 | 106739519 | Human | 1 | name |
| 598184349 | CV3995801 | single nucleotide variant | NM_001198533.2(OXR1):c.2483G>A (p.Gly828Glu) | Inborn genetic diseases [RCV005395437] | uncertain significance | 8 | 106745859 | 106745859 | Human | 1 | name |
| 598184360 | CV3995804 | single nucleotide variant | NM_001198533.2(OXR1):c.1079A>G (p.Asp360Gly) | Inborn genetic diseases [RCV005395439] | uncertain significance | 8 | 106706600 | 106706600 | Human | 1 | name |
| 21076080 | CV682313 | single nucleotide variant | NM_001198533.2(OXR1):c.1100C>G (p.Ser367Ter) | Congenital cerebellar hypoplasia [RCV000993804] | pathogenic | 8 | 106706621 | 106706621 | Human | 2 | name |
| 8632772 | CV87987 | single nucleotide variant | NM_001198532.1(OXR1):c.2113C>T (p.Arg705Ter) | Malignant melanoma [RCV000068079] | not provided | 8 | 106739530 | 106739530 | Human | | name |
| 34891785 | CV904508 | single nucleotide variant | NM_001198533.2(OXR1):c.1459C>G (p.Gln487Glu) | not provided [RCV001172191] | uncertain significance | 8 | 106706980 | 106706980 | Human | | name |
| 34891787 | CV904509 | single nucleotide variant | NM_001198533.2(OXR1):c.2560C>T (p.Arg854Cys) | Inborn genetic diseases [RCV003163378]|not provided [RCV001172192] | likely benign|uncertain significance | 8 | 106750879 | 106750879 | Human | 1 | name |
