| 401934417 | CV2807800 | single nucleotide variant | NM_001105079.3(FBRS):c.426C>T (p.Ala142=) | not provided [RCV003411308] | likely benign | 16 | 30659944 | 30659944 | Human | | name |
| 15191354 | CV703635 | single nucleotide variant | NM_001105079.3(FBRS):c.2496C>A (p.Ala832=) | not provided [RCV000954751] | likely benign | 16 | 30669198 | 30669198 | Human | | name |
| 156062209 | CV2203486 | single nucleotide variant | NM_001105079.3(FBRS):c.1661C>T (p.Pro554Leu) | not specified [RCV004072696] | uncertain significance | 16 | 30665358 | 30665358 | Human | | name |
| 156176030 | CV2205295 | single nucleotide variant | NM_001105079.3(FBRS):c.1730G>A (p.Arg577Gln) | not specified [RCV004079914] | uncertain significance | 16 | 30665663 | 30665663 | Human | | name |
| 155981564 | CV2208429 | single nucleotide variant | NM_001105079.3(FBRS):c.2423G>A (p.Arg808Gln) | not specified [RCV004090972] | uncertain significance | 16 | 30669125 | 30669125 | Human | | name |
| 156331098 | CV2210774 | single nucleotide variant | NM_001105079.3(FBRS):c.1715C>A (p.Pro572His) | not specified [RCV004085869] | uncertain significance | 16 | 30665648 | 30665648 | Human | | name |
| 156094070 | CV2213283 | single nucleotide variant | NM_001105079.3(FBRS):c.2728G>A (p.Val910Met) | not specified [RCV004085500] | uncertain significance | 16 | 30669430 | 30669430 | Human | | name |
| 156382216 | CV2227246 | single nucleotide variant | NM_001105079.3(FBRS):c.2023A>G (p.Thr675Ala) | not specified [RCV004091828] | uncertain significance | 16 | 30667571 | 30667571 | Human | | name |
| 155933177 | CV2228841 | single nucleotide variant | NM_001105079.3(FBRS):c.2461G>A (p.Val821Met) | not specified [RCV004095078] | uncertain significance | 16 | 30669163 | 30669163 | Human | | name |
| 156252502 | CV2232410 | single nucleotide variant | NM_001105079.3(FBRS):c.2881G>C (p.Val961Leu) | not specified [RCV004099036] | uncertain significance | 16 | 30669583 | 30669583 | Human | | name |
| 155900946 | CV2241876 | single nucleotide variant | NM_001105079.3(FBRS):c.2290G>T (p.Ala764Ser) | not specified [RCV004106795] | uncertain significance | 16 | 30668903 | 30668903 | Human | | name |
| 156232374 | CV2245155 | single nucleotide variant | NM_001105079.3(FBRS):c.1630G>A (p.Ala544Thr) | not specified [RCV004106939] | uncertain significance | 16 | 30665327 | 30665327 | Human | | name |
| 156362568 | CV2265560 | single nucleotide variant | NM_001105079.3(FBRS):c.2609C>G (p.Pro870Arg) | not specified [RCV004124302] | uncertain significance | 16 | 30669311 | 30669311 | Human | | name |
| 156166351 | CV2270411 | single nucleotide variant | NM_001105079.3(FBRS):c.2329C>T (p.Arg777Trp) | not specified [RCV004137389] | uncertain significance | 16 | 30668942 | 30668942 | Human | | name |
| 156029528 | CV2278632 | single nucleotide variant | NM_001105079.3(FBRS):c.2044G>A (p.Gly682Arg) | not specified [RCV004134841] | uncertain significance | 16 | 30667592 | 30667592 | Human | | name |
| 156074255 | CV2281428 | single nucleotide variant | NM_001105079.3(FBRS):c.1988C>G (p.Ala663Gly) | not specified [RCV004153759] | uncertain significance | 16 | 30667432 | 30667432 | Human | | name |
| 155930153 | CV2299761 | single nucleotide variant | NM_001105079.3(FBRS):c.2591C>T (p.Pro864Leu) | not specified [RCV004148920] | uncertain significance | 16 | 30669293 | 30669293 | Human | | name |
| 156106874 | CV2303831 | single nucleotide variant | NM_001105079.3(FBRS):c.2005G>A (p.Ala669Thr) | not specified [RCV004168128] | uncertain significance | 16 | 30667553 | 30667553 | Human | | name |
| 156273333 | CV2334007 | single nucleotide variant | NM_001105079.3(FBRS):c.2524G>A (p.Ala842Thr) | not specified [RCV004183533] | uncertain significance | 16 | 30669226 | 30669226 | Human | | name |
| 155901068 | CV2345726 | single nucleotide variant | NM_001105079.3(FBRS):c.2699C>T (p.Ala900Val) | not specified [RCV004205664] | uncertain significance | 16 | 30669401 | 30669401 | Human | | name |
| 156276821 | CV2351966 | single nucleotide variant | NM_001105079.3(FBRS):c.2734G>A (p.Ala912Thr) | not specified [RCV004191070] | uncertain significance | 16 | 30669436 | 30669436 | Human | | name |
| 156180013 | CV2356058 | single nucleotide variant | NM_001105079.3(FBRS):c.2837G>A (p.Ser946Asn) | not specified [RCV004203475] | uncertain significance | 16 | 30669539 | 30669539 | Human | | name |
| 156390213 | CV2373170 | single nucleotide variant | NM_001105079.3(FBRS):c.1750G>A (p.Gly584Arg) | not specified [RCV004217851] | uncertain significance | 16 | 30665683 | 30665683 | Human | | name |
| 156185604 | CV2377859 | single nucleotide variant | NM_001105079.3(FBRS):c.2644C>T (p.Pro882Ser) | not specified [RCV004230433] | uncertain significance | 16 | 30669346 | 30669346 | Human | | name |
| 329376519 | CV2438263 | single nucleotide variant | NM_001105079.3(FBRS):c.2527G>A (p.Ala843Thr) | not specified [RCV004257023] | uncertain significance | 16 | 30669229 | 30669229 | Human | | name |
| 329376712 | CV2438337 | single nucleotide variant | NM_001105079.3(FBRS):c.2317C>T (p.Arg773Trp) | not specified [RCV004257087] | uncertain significance | 16 | 30668930 | 30668930 | Human | | name |
| 329374176 | CV2443756 | single nucleotide variant | NM_001105079.3(FBRS):c.2930G>A (p.Arg977Gln) | not specified [RCV004256055] | uncertain significance | 16 | 30669632 | 30669632 | Human | | name |
| 329362341 | CV2444619 | single nucleotide variant | NM_001105079.3(FBRS):c.2479C>T (p.Arg827Trp) | not specified [RCV004256840] | uncertain significance | 16 | 30669181 | 30669181 | Human | | name |
| 401757341 | CV2675239 | single nucleotide variant | NM_001105079.3(FBRS):c.2422C>T (p.Arg808Trp) | not specified [RCV004290007] | uncertain significance | 16 | 30669124 | 30669124 | Human | | name |
| 401760346 | CV2718808 | single nucleotide variant | NM_001105079.3(FBRS):c.2624G>A (p.Arg875His) | not specified [RCV004328554] | uncertain significance | 16 | 30669326 | 30669326 | Human | | name |
| 401723394 | CV2724880 | single nucleotide variant | NM_001105079.3(FBRS):c.2810C>T (p.Ala937Val) | not specified [RCV004319659] | uncertain significance | 16 | 30669512 | 30669512 | Human | | name |
| 401774030 | CV2727709 | single nucleotide variant | NM_001105079.3(FBRS):c.2017C>A (p.Pro673Thr) | not specified [RCV004323747] | uncertain significance | 16 | 30667565 | 30667565 | Human | | name |
| 401860977 | CV2758696 | single nucleotide variant | NM_001105079.3(FBRS):c.1718A>G (p.Glu573Gly) | not specified [RCV004337761] | uncertain significance | 16 | 30665651 | 30665651 | Human | | name |
| 401895633 | CV2771235 | single nucleotide variant | NM_001105079.3(FBRS):c.2355G>T (p.Glu785Asp) | not specified [RCV004346216] | uncertain significance | 16 | 30668968 | 30668968 | Human | | name |
| 401897059 | CV2782505 | single nucleotide variant | NM_001105079.3(FBRS):c.2465G>C (p.Arg822Pro) | not specified [RCV004359550] | uncertain significance | 16 | 30669167 | 30669167 | Human | | name |
| 405778496 | CV3250166 | single nucleotide variant | NM_001105079.3(FBRS):c.1889A>G (p.Lys630Arg) | not specified [RCV004386322] | uncertain significance | 16 | 30667333 | 30667333 | Human | | name |
| 405778162 | CV3250167 | single nucleotide variant | NM_001105079.3(FBRS):c.1999G>A (p.Val667Ile) | not specified [RCV004386323] | uncertain significance | 16 | 30667547 | 30667547 | Human | | name |
| 405778174 | CV3250169 | single nucleotide variant | NM_001105079.3(FBRS):c.2033C>T (p.Pro678Leu) | not specified [RCV004386325] | uncertain significance | 16 | 30667581 | 30667581 | Human | | name |
| 405778179 | CV3250170 | single nucleotide variant | NM_001105079.3(FBRS):c.2057G>C (p.Ser686Thr) | not specified [RCV004386326] | uncertain significance | 16 | 30667605 | 30667605 | Human | | name |
| 405778185 | CV3250171 | single nucleotide variant | NM_001105079.3(FBRS):c.2123A>G (p.Asn708Ser) | not specified [RCV004386327] | uncertain significance | 16 | 30668608 | 30668608 | Human | | name |
| 405778191 | CV3250172 | single nucleotide variant | NM_001105079.3(FBRS):c.2212G>A (p.Ala738Thr) | not specified [RCV004386328] | uncertain significance | 16 | 30668825 | 30668825 | Human | | name |
| 405778197 | CV3250173 | single nucleotide variant | NM_001105079.3(FBRS):c.2294G>A (p.Arg765Gln) | not specified [RCV004386329] | uncertain significance | 16 | 30668907 | 30668907 | Human | | name |
| 407493709 | CV3442450 | single nucleotide variant | NM_001105079.3(FBRS):c.2816C>T (p.Pro939Leu) | not specified [RCV004621121] | uncertain significance | 16 | 30669518 | 30669518 | Human | | name |
| 407493713 | CV3442451 | single nucleotide variant | NM_001105079.3(FBRS):c.2320C>G (p.Pro774Ala) | not specified [RCV004621122] | uncertain significance | 16 | 30668933 | 30668933 | Human | | name |
| 407493718 | CV3442452 | single nucleotide variant | NM_001105079.3(FBRS):c.2896C>T (p.Pro966Ser) | not specified [RCV004621123] | uncertain significance | 16 | 30669598 | 30669598 | Human | | name |
| 407493723 | CV3442453 | single nucleotide variant | NM_001105079.3(FBRS):c.1790G>A (p.Arg597Gln) | not specified [RCV004621124] | uncertain significance | 16 | 30666528 | 30666528 | Human | | name |
| 597698473 | CV3669256 | single nucleotide variant | NM_001105079.3(FBRS):c.1748G>A (p.Ser583Asn) | not specified [RCV004916128] | uncertain significance | 16 | 30665681 | 30665681 | Human | | name |
| 597698479 | CV3669257 | single nucleotide variant | NM_001105079.3(FBRS):c.2222C>T (p.Pro741Leu) | not specified [RCV004916129] | uncertain significance | 16 | 30668835 | 30668835 | Human | | name |
| 597698486 | CV3669258 | single nucleotide variant | NM_001105079.3(FBRS):c.1925C>T (p.Pro642Leu) | not specified [RCV004916130] | uncertain significance | 16 | 30667369 | 30667369 | Human | | name |
| 597698494 | CV3669259 | single nucleotide variant | NM_001105079.3(FBRS):c.1616C>T (p.Thr539Met) | not specified [RCV004916131] | uncertain significance | 16 | 30665313 | 30665313 | Human | | name |
| 597698502 | CV3669260 | single nucleotide variant | NM_001105079.3(FBRS):c.2281C>A (p.Pro761Thr) | not specified [RCV004916132] | uncertain significance | 16 | 30668894 | 30668894 | Human | | name |
| 597698520 | CV3669263 | single nucleotide variant | NM_001105079.3(FBRS):c.2072T>C (p.Ile691Thr) | not specified [RCV004916134] | uncertain significance | 16 | 30667620 | 30667620 | Human | | name |
| 597698527 | CV3669264 | single nucleotide variant | NM_001105079.3(FBRS):c.2275C>T (p.Arg759Trp) | not specified [RCV004916135] | uncertain significance | 16 | 30668888 | 30668888 | Human | | name |
| 598214557 | CV3962555 | single nucleotide variant | NM_001105079.3(FBRS):c.2539G>A (p.Ala847Thr) | not specified [RCV005339545] | uncertain significance | 16 | 30669241 | 30669241 | Human | | name |
| 598214563 | CV3962556 | single nucleotide variant | NM_001105079.3(FBRS):c.2521G>A (p.Ala841Thr) | not specified [RCV005339546] | uncertain significance | 16 | 30669223 | 30669223 | Human | | name |
| 598214574 | CV3962558 | single nucleotide variant | NM_001105079.3(FBRS):c.1864G>A (p.Glu622Lys) | not specified [RCV005339548] | uncertain significance | 16 | 30666979 | 30666979 | Human | | name |
| 598214582 | CV3962559 | single nucleotide variant | NM_001105079.3(FBRS):c.2237G>A (p.Arg746His) | not specified [RCV005339549] | uncertain significance | 16 | 30668850 | 30668850 | Human | | name |
| 598214591 | CV3962560 | single nucleotide variant | NM_001105079.3(FBRS):c.1606A>G (p.Asn536Asp) | not specified [RCV005339550] | uncertain significance | 16 | 30665077 | 30665077 | Human | | name |
| 598214597 | CV3962561 | single nucleotide variant | NM_001105079.3(FBRS):c.2884C>T (p.Pro962Ser) | not specified [RCV005339551] | uncertain significance | 16 | 30669586 | 30669586 | Human | | name |
| 598214605 | CV3962562 | single nucleotide variant | NM_001105079.3(FBRS):c.2789C>T (p.Ala930Val) | not specified [RCV005339552] | uncertain significance | 16 | 30669491 | 30669491 | Human | | name |
| 598226546 | CV3962563 | single nucleotide variant | NM_001105079.3(FBRS):c.2230T>C (p.Trp744Arg) | not specified [RCV005341621] | uncertain significance | 16 | 30668843 | 30668843 | Human | | name |
| 598226553 | CV3962564 | single nucleotide variant | NM_001105079.3(FBRS):c.2639T>C (p.Leu880Pro) | not specified [RCV005341622] | uncertain significance | 16 | 30669341 | 30669341 | Human | | name |
| 14349976 | CV590884 | single nucleotide variant | NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser) | Short stature [RCV000736120] | likely pathogenic | 16 | 30668622 | 30668622 | Human | 2 | name |
| 14349982 | CV590885 | single nucleotide variant | NM_001105079.3(FBRS):c.2594C>T (p.Pro865Leu) | Short stature [RCV000736122] | uncertain significance | 16 | 30669296 | 30669296 | Human | 2 | name |
| 14349978 | CV590886 | single nucleotide variant | NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala) | Short stature [RCV000736121] | likely pathogenic | 16 | 30669598 | 30669598 | Human | 2 | name |
| 598129730 | CV3887150 | single nucleotide variant | NM_001367871.1(FBRSL1):c.692-3C>T | not provided [RCV005245210] | benign | 12 | 132569923 | 132569923 | Human | | name |
| 243049713 | CV2417071 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1912+3G>T | See cases [RCV003151941] | likely benign | 12 | 132581519 | 132581519 | Human | | name |
| 401919092 | CV2800922 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1912+1G>A | FBRSL1-related disorder [RCV003402122] | uncertain significance | 12 | 132581517 | 132581517 | Human | | name , trait , alternate_id |
| 155904093 | CV2353756 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1630-18G>A | not specified [RCV004201765] | uncertain significance | 12 | 132574475 | 132574475 | Human | | name |
| 156018387 | CV2370270 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1629+50C>T | not specified [RCV004213187] | uncertain significance | 12 | 132574398 | 132574398 | Human | | name |
| 156060701 | CV2380159 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1629+71G>A | not specified [RCV004224530] | uncertain significance | 12 | 132574419 | 132574419 | Human | | name |
| 401863180 | CV2765572 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1629+23C>T | not specified [RCV004335589] | likely benign | 12 | 132574371 | 132574371 | Human | | name |
| 401886250 | CV2771701 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+81G>A | not specified [RCV004350491] | uncertain significance | 12 | 132571312 | 132571312 | Human | | name |
| 597719352 | CV3669280 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+91G>C | not specified [RCV004918631] | uncertain significance | 12 | 132571322 | 132571322 | Human | | name |
| 598227151 | CV3894468 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1629+59C>T | not provided [RCV005257711] | likely benign | 12 | 132574407 | 132574407 | Human | | name |
| 598226673 | CV3962581 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1630-30G>C | not specified [RCV005341638] | uncertain significance | 12 | 132574463 | 132574463 | Human | | name |
| 617153359 | CV4021221 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1629+54G>A | not provided [RCV005428974] | likely benign | 12 | 132574402 | 132574402 | Human | | name |
| 8653736 | CV130311 | single nucleotide variant | NM_001142641.1(FBRSL1):c.490-1367G>A | Lung cancer [RCV000110798] | uncertain significance | 12 | 132524367 | 132524367 | Human | | name |
| 156172586 | CV2293370 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+108C>T | not specified [RCV004150845] | uncertain significance | 12 | 132571339 | 132571339 | Human | | name |
| 155965682 | CV2395987 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+154C>T | not specified [RCV004237535] | uncertain significance | 12 | 132571385 | 132571385 | Human | | name |
| 329398487 | CV2471564 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+172C>A | not specified [RCV004286866] | uncertain significance | 12 | 132571403 | 132571403 | Human | | name |
| 401747573 | CV2696735 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+289C>T | not specified [RCV004290709] | uncertain significance | 12 | 132571520 | 132571520 | Human | | name |
| 401757720 | CV2731409 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+292C>T | not specified [RCV004330772] | uncertain significance | 12 | 132571523 | 132571523 | Human | | name |
| 401862837 | CV2755461 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+268C>T | not specified [RCV004340050] | uncertain significance | 12 | 132571499 | 132571499 | Human | | name |
| 401910028 | CV2813729 | single nucleotide variant | NM_001367871.1(FBRSL1):c.489+1139C>T | not provided [RCV003398306] | likely benign | 12 | 132509489 | 132509489 | Human | | name |
| 401910030 | CV2813730 | single nucleotide variant | NM_001367871.1(FBRSL1):c.489+1799G>A | not provided [RCV003398307] | likely benign | 12 | 132510149 | 132510149 | Human | | name |
| 401934225 | CV2813731 | single nucleotide variant | NM_001367871.1(FBRSL1):c.489+2042A>G | not provided [RCV003410978] | likely benign | 12 | 132510392 | 132510392 | Human | | name |
| 597719522 | CV3665798 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+145C>T | not specified [RCV004918651] | uncertain significance | 12 | 132571376 | 132571376 | Human | | name |
| 597719344 | CV3669279 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+279G>A | not specified [RCV004918630] | uncertain significance | 12 | 132571510 | 132571510 | Human | | name |
| 597719384 | CV3669284 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+256C>T | not specified [RCV004918635] | uncertain significance | 12 | 132571487 | 132571487 | Human | | name |
| 598128921 | CV3886722 | single nucleotide variant | NM_001367871.1(FBRSL1):c.489+1901G>A | not provided [RCV005244382] | benign | 12 | 132510251 | 132510251 | Human | | name |
| 598128333 | CV3887537 | single nucleotide variant | NM_001367871.1(FBRSL1):c.489+1991G>A | not provided [RCV005243710] | likely benign | 12 | 132510341 | 132510341 | Human | | name |
| 598128351 | CV3887555 | single nucleotide variant | NM_001367871.1(FBRSL1):c.489+1632C>A | not provided [RCV005243728] | likely benign | 12 | 132509982 | 132509982 | Human | | name |
| 598127675 | CV3888280 | single nucleotide variant | NM_001367871.1(FBRSL1):c.489+1426C>T | not provided [RCV005242966] | uncertain significance | 12 | 132509776 | 132509776 | Human | | name |
| 598221717 | CV3893770 | single nucleotide variant | NM_001367871.1(FBRSL1):c.489+1236C>T | not provided [RCV005257013] | likely benign | 12 | 132509586 | 132509586 | Human | | name |
| 598224670 | CV3894153 | single nucleotide variant | NM_001367871.1(FBRSL1):c.489+1970G>A | not provided [RCV005257396] | likely benign | 12 | 132510320 | 132510320 | Human | | name |
| 598225254 | CV3894224 | single nucleotide variant | NM_001367871.1(FBRSL1):c.489+1979G>T | not provided [RCV005257467] | uncertain significance | 12 | 132510329 | 132510329 | Human | | name |
| 598226584 | CV3962570 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+169G>A | not specified [RCV005341627] | uncertain significance | 12 | 132571400 | 132571400 | Human | | name |
| 598226599 | CV3962572 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+220C>A | not specified [RCV005341629] | uncertain significance | 12 | 132571451 | 132571451 | Human | | name |
| 598226626 | CV3962575 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1377+234C>T | not specified [RCV005341632] | uncertain significance | 12 | 132571465 | 132571465 | Human | | name |
| 401936526 | CV2798657 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1886G>C (p.Ser629Thr) | FBRSL1-related disorder [RCV003414540] | uncertain significance | 12 | 132581490 | 132581490 | Human | | name , trait , alternate_id |
| 401909342 | CV2803993 | single nucleotide variant | NM_001367871.1(FBRSL1):c.430C>T (p.Gln144Ter) | FBRSL1-related disorder [RCV003397851] | uncertain significance | 12 | 132508291 | 132508291 | Human | | name , trait , alternate_id |
| 405277924 | CV3199386 | deletion | NM_001367871.1(FBRSL1):c.2524_2538del (p.Arg842_Gly846del) | FBRSL1-related disorder [RCV003904782]|Syndromic disease [RCV003994606] | benign|likely benign | 12 | 132583285 | 132583299 | Human | | name , trait , alternate_id |
| 405260320 | CV3209142 | single nucleotide variant | NM_001367871.1(FBRSL1):c.845G>A (p.Arg282His) | FBRSL1-related disorder [RCV003943847] | likely benign | 12 | 132570079 | 132570079 | Human | | name , trait , alternate_id |
| 401772951 | CV2698041 | single nucleotide variant | NM_001367871.1(FBRSL1):c.94C>T (p.Pro32Ser) | not specified [RCV004302842] | uncertain significance | 12 | 132490664 | 132490664 | Human | | name |
| 401934224 | CV2813732 | single nucleotide variant | NM_001367871.1(FBRSL1):c.876C>T (p.Pro292=) | not provided [RCV003410979] | likely benign | 12 | 132570110 | 132570110 | Human | | name |
| 401910194 | CV2813733 | single nucleotide variant | NM_001367871.1(FBRSL1):c.966G>A (p.Ala322=) | not provided [RCV003398308] | likely benign | 12 | 132570200 | 132570200 | Human | | name |
| 405778529 | CV3250204 | single nucleotide variant | NM_001367871.1(FBRSL1):c.46G>A (p.Asp16Asn) | not specified [RCV004386360] | uncertain significance | 12 | 132490616 | 132490616 | Human | | name |
| 405778562 | CV3250210 | single nucleotide variant | NM_001367871.1(FBRSL1):c.80C>T (p.Ala27Val) | not specified [RCV004386366] | uncertain significance | 12 | 132490650 | 132490650 | Human | | name |
| 407493764 | CV3442463 | single nucleotide variant | NM_001367871.1(FBRSL1):c.83G>A (p.Arg28His) | not specified [RCV004621134] | uncertain significance | 12 | 132490653 | 132490653 | Human | | name |
| 597699592 | CV3669267 | single nucleotide variant | NM_001367871.1(FBRSL1):c.94C>A (p.Pro32Thr) | not specified [RCV004916138] | uncertain significance | 12 | 132490664 | 132490664 | Human | | name |
| 156399424 | CV2205110 | single nucleotide variant | NM_001367871.1(FBRSL1):c.212G>A (p.Arg71His) | not specified [RCV004077710] | uncertain significance | 12 | 132490782 | 132490782 | Human | | name |
| 156267662 | CV2244061 | single nucleotide variant | NM_001367871.1(FBRSL1):c.158C>A (p.Pro53His) | not specified [RCV004108540] | uncertain significance | 12 | 132490728 | 132490728 | Human | | name |
| 156274243 | CV2344213 | single nucleotide variant | NM_001367871.1(FBRSL1):c.169G>A (p.Ala57Thr) | not specified [RCV004197852] | uncertain significance | 12 | 132490739 | 132490739 | Human | | name |
| 243049714 | CV2417072 | single nucleotide variant | NM_001367871.1(FBRSL1):c.115G>T (p.Glu39Ter) | See cases [RCV003151942] | likely benign | 12 | 132490685 | 132490685 | Human | | name |
| 329381686 | CV2471262 | single nucleotide variant | NM_001367871.1(FBRSL1):c.119C>T (p.Pro40Leu) | not specified [RCV004280289] | uncertain significance | 12 | 132490689 | 132490689 | Human | | name |
| 401883511 | CV2757952 | single nucleotide variant | NM_001367871.1(FBRSL1):c.172G>A (p.Ala58Thr) | not provided [RCV003679192]|not specified [RCV004337085] | uncertain significance | 12 | 132490742 | 132490742 | Human | | name |
| 401910036 | CV2813734 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1326G>A (p.Pro442=) | not provided [RCV003398309] | likely benign | 12 | 132571180 | 132571180 | Human | | name |
| 401934223 | CV2813735 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1656C>T (p.His552=) | not provided [RCV003410980] | likely benign | 12 | 132574519 | 132574519 | Human | | name |
| 401910037 | CV2813736 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1929G>A (p.Pro643=) | not provided [RCV003398310] | likely benign | 12 | 132581757 | 132581757 | Human | | name |
| 401910039 | CV2813737 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2544G>A (p.Pro848=) | not provided [RCV003398311] | likely benign | 12 | 132583313 | 132583313 | Human | | name |
| 401910041 | CV2813738 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2961G>A (p.Ala987=) | not provided [RCV003398312] | likely benign | 12 | 132583730 | 132583730 | Human | | name |
| 405778222 | CV3250177 | single nucleotide variant | NM_001367871.1(FBRSL1):c.158C>T (p.Pro53Leu) | not specified [RCV004386333] | uncertain significance | 12 | 132490728 | 132490728 | Human | | name |
| 405778234 | CV3250179 | single nucleotide variant | NM_001367871.1(FBRSL1):c.161C>G (p.Pro54Arg) | not specified [RCV004386335] | uncertain significance | 12 | 132490731 | 132490731 | Human | | name |
| 407493729 | CV3442455 | single nucleotide variant | NM_001367871.1(FBRSL1):c.170C>T (p.Ala57Val) | not specified [RCV004621126] | uncertain significance | 12 | 132490740 | 132490740 | Human | | name |
| 597719477 | CV3665793 | single nucleotide variant | NM_001367871.1(FBRSL1):c.161C>A (p.Pro54His) | not specified [RCV004918646] | uncertain significance | 12 | 132490731 | 132490731 | Human | | name |
| 597719425 | CV3669289 | single nucleotide variant | NM_001367871.1(FBRSL1):c.266G>C (p.Ser89Thr) | not specified [RCV004918640] | uncertain significance | 12 | 132490836 | 132490836 | Human | | name |
| 598129920 | CV3887344 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1068G>A (p.Pro356=) | not provided [RCV005245405] | likely benign | 12 | 132570395 | 132570395 | Human | | name |
| 598128303 | CV3887503 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1941G>A (p.Gly647=) | not provided [RCV005243676] | likely benign | 12 | 132581769 | 132581769 | Human | | name |
| 598128674 | CV3887881 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2712C>G (p.Arg904=) | not provided [RCV005244055] | likely benign | 12 | 132583481 | 132583481 | Human | | name |
| 598129188 | CV3888481 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1038G>A (p.Gly346=) | not provided [RCV005244655] | likely benign | 12 | 132570365 | 132570365 | Human | | name |
| 598129189 | CV3888482 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1734G>T (p.Val578=) | not provided [RCV005244656] | likely benign | 12 | 132576831 | 132576831 | Human | | name |
| 598122978 | CV3890128 | duplication | NM_001367871.1(FBRSL1):c.380dup (p.Ala128fs) | not provided [RCV005250647] | uncertain significance | 12 | 132508235 | 132508236 | Human | | name |
| 598226656 | CV3962579 | single nucleotide variant | NM_001367871.1(FBRSL1):c.148C>T (p.Arg50Cys) | not specified [RCV005341636] | uncertain significance | 12 | 132490718 | 132490718 | Human | | name |
| 15164677 | CV702250 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2883G>C (p.Thr961=) | not provided [RCV000948404] | benign | 12 | 132583652 | 132583652 | Human | | name |
| 156143936 | CV2200123 | single nucleotide variant | NM_001367871.1(FBRSL1):c.705G>C (p.Glu235Asp) | not specified [RCV004069695] | uncertain significance | 12 | 132569939 | 132569939 | Human | | name |
| 156091976 | CV2216700 | single nucleotide variant | NM_001367871.1(FBRSL1):c.521G>A (p.Arg174Gln) | not specified [RCV004083151] | uncertain significance | 12 | 132525765 | 132525765 | Human | | name |
| 156298981 | CV2248579 | single nucleotide variant | NM_001367871.1(FBRSL1):c.958G>A (p.Ala320Thr) | not specified [RCV004121772] | uncertain significance | 12 | 132570192 | 132570192 | Human | | name |
| 156307287 | CV2252834 | single nucleotide variant | NM_001367871.1(FBRSL1):c.446C>T (p.Ala149Val) | not specified [RCV004120448] | uncertain significance | 12 | 132508307 | 132508307 | Human | | name |
| 155998824 | CV2261022 | single nucleotide variant | NM_001367871.1(FBRSL1):c.379C>G (p.Pro127Ala) | not specified [RCV004127682] | uncertain significance | 12 | 132508240 | 132508240 | Human | | name |
| 156174502 | CV2290329 | single nucleotide variant | NM_001367871.1(FBRSL1):c.569C>T (p.Pro190Leu) | not specified [RCV004154763] | uncertain significance | 12 | 132525813 | 132525813 | Human | | name |
| 155965576 | CV2308523 | single nucleotide variant | NM_001367871.1(FBRSL1):c.815C>T (p.Ala272Val) | not specified [RCV004166803] | uncertain significance | 12 | 132570049 | 132570049 | Human | | name |
| 156261544 | CV2314743 | single nucleotide variant | NM_001367871.1(FBRSL1):c.514G>A (p.Gly172Ser) | not specified [RCV004170882] | uncertain significance | 12 | 132525758 | 132525758 | Human | | name |
| 156327124 | CV2332055 | single nucleotide variant | NM_001367871.1(FBRSL1):c.919C>T (p.Arg307Cys) | not specified [RCV004189106] | uncertain significance | 12 | 132570153 | 132570153 | Human | | name |
| 156304416 | CV2341529 | single nucleotide variant | NM_001367871.1(FBRSL1):c.502G>A (p.Val168Met) | not specified [RCV004188920] | uncertain significance | 12 | 132525746 | 132525746 | Human | | name |
| 155901978 | CV2345905 | single nucleotide variant | NM_001367871.1(FBRSL1):c.892A>G (p.Thr298Ala) | not specified [RCV004198944] | uncertain significance | 12 | 132570126 | 132570126 | Human | | name |
| 156227972 | CV2352873 | single nucleotide variant | NM_001367871.1(FBRSL1):c.685G>A (p.Asp229Asn) | not specified [RCV004200922] | uncertain significance | 12 | 132567520 | 132567520 | Human | | name |
| 155987322 | CV2354896 | single nucleotide variant | NM_001367871.1(FBRSL1):c.803C>T (p.Ala268Val) | not specified [RCV004191392] | uncertain significance | 12 | 132570037 | 132570037 | Human | | name |
| 155916185 | CV2366602 | single nucleotide variant | NM_001367871.1(FBRSL1):c.850A>G (p.Asn284Asp) | not specified [RCV004210619] | uncertain significance | 12 | 132570084 | 132570084 | Human | | name |
| 156083659 | CV2381905 | single nucleotide variant | NM_001367871.1(FBRSL1):c.458C>T (p.Ala153Val) | not specified [RCV004225845] | uncertain significance | 12 | 132508319 | 132508319 | Human | | name |
| 156084544 | CV2381995 | single nucleotide variant | NM_001367871.1(FBRSL1):c.826G>A (p.Gly276Arg) | not specified [RCV004225923] | uncertain significance | 12 | 132570060 | 132570060 | Human | | name |
| 156153337 | CV2394958 | single nucleotide variant | NM_001367871.1(FBRSL1):c.761G>A (p.Arg254His) | not specified [RCV004234606] | uncertain significance | 12 | 132569995 | 132569995 | Human | | name |
| 329354448 | CV2448196 | single nucleotide variant | NM_001367871.1(FBRSL1):c.563G>A (p.Arg188Gln) | not specified [RCV004263406] | likely benign | 12 | 132525807 | 132525807 | Human | | name |
| 329393096 | CV2449491 | single nucleotide variant | NM_001367871.1(FBRSL1):c.871C>A (p.Pro291Thr) | not specified [RCV004268432] | uncertain significance | 12 | 132570105 | 132570105 | Human | | name |
| 401767775 | CV2677812 | single nucleotide variant | NM_001367871.1(FBRSL1):c.379C>T (p.Pro127Ser) | not specified [RCV004294310] | likely benign | 12 | 132508240 | 132508240 | Human | | name |
| 401721680 | CV2680626 | single nucleotide variant | NM_001367871.1(FBRSL1):c.775G>A (p.Glu259Lys) | not specified [RCV004291245] | uncertain significance | 12 | 132570009 | 132570009 | Human | | name |
| 401782294 | CV2686661 | single nucleotide variant | NM_001367871.1(FBRSL1):c.833C>T (p.Pro278Leu) | not specified [RCV004300073] | uncertain significance | 12 | 132570067 | 132570067 | Human | | name |
| 401729555 | CV2690334 | single nucleotide variant | NM_001367871.1(FBRSL1):c.887G>A (p.Arg296His) | not specified [RCV004302329] | uncertain significance | 12 | 132570121 | 132570121 | Human | | name |
| 401776678 | CV2703316 | single nucleotide variant | NM_001367871.1(FBRSL1):c.922G>A (p.Gly308Ser) | not specified [RCV004315669] | uncertain significance | 12 | 132570156 | 132570156 | Human | | name |
| 401719971 | CV2705596 | single nucleotide variant | NM_001367871.1(FBRSL1):c.772G>A (p.Ala258Thr) | not specified [RCV004318460] | likely benign | 12 | 132570006 | 132570006 | Human | | name |
| 401884404 | CV2762816 | single nucleotide variant | NM_001367871.1(FBRSL1):c.902C>T (p.Pro301Leu) | not specified [RCV004340366] | uncertain significance | 12 | 132570136 | 132570136 | Human | | name |
| 401894819 | CV2785344 | single nucleotide variant | NM_001367871.1(FBRSL1):c.967G>A (p.Gly323Ser) | not specified [RCV004357097] | uncertain significance | 12 | 132570201 | 132570201 | Human | | name |
| 401898402 | CV2787861 | single nucleotide variant | NM_001367871.1(FBRSL1):c.721G>T (p.Ala241Ser) | not specified [RCV004358539] | uncertain significance | 12 | 132569955 | 132569955 | Human | | name |
| 401895033 | CV2792724 | single nucleotide variant | NM_001367871.1(FBRSL1):c.916C>T (p.Pro306Ser) | not specified [RCV004365493] | uncertain significance | 12 | 132570150 | 132570150 | Human | | name |
| 405778513 | CV3250201 | single nucleotide variant | NM_001367871.1(FBRSL1):c.337C>T (p.Arg113Cys) | not specified [RCV004386357] | uncertain significance | 12 | 132508198 | 132508198 | Human | | name |
| 405778519 | CV3250202 | single nucleotide variant | NM_001367871.1(FBRSL1):c.358C>G (p.Arg120Gly) | not specified [RCV004386358] | uncertain significance | 12 | 132508219 | 132508219 | Human | | name |
| 405778525 | CV3250203 | single nucleotide variant | NM_001367871.1(FBRSL1):c.377C>T (p.Pro126Leu) | not specified [RCV004386359] | uncertain significance | 12 | 132508238 | 132508238 | Human | | name |
| 405778536 | CV3250205 | single nucleotide variant | NM_001367871.1(FBRSL1):c.488A>G (p.Gln163Arg) | not specified [RCV004386361] | uncertain significance | 12 | 132508349 | 132508349 | Human | | name |
| 405778543 | CV3250206 | single nucleotide variant | NM_001367871.1(FBRSL1):c.517G>A (p.Asp173Asn) | not specified [RCV004386362] | uncertain significance | 12 | 132525761 | 132525761 | Human | | name |
| 405778553 | CV3250208 | single nucleotide variant | NM_001367871.1(FBRSL1):c.736A>C (p.Lys246Gln) | not specified [RCV004386364] | uncertain significance | 12 | 132569970 | 132569970 | Human | | name |
| 405778557 | CV3250209 | single nucleotide variant | NM_001367871.1(FBRSL1):c.763G>A (p.Glu255Lys) | not specified [RCV004386365] | uncertain significance | 12 | 132569997 | 132569997 | Human | | name |
| 405778568 | CV3250211 | single nucleotide variant | NM_001367871.1(FBRSL1):c.814G>A (p.Ala272Thr) | not specified [RCV004386367] | uncertain significance | 12 | 132570048 | 132570048 | Human | | name |
| 405778575 | CV3250212 | single nucleotide variant | NM_001367871.1(FBRSL1):c.838G>A (p.Gly280Ser) | not specified [RCV004386368] | uncertain significance | 12 | 132570072 | 132570072 | Human | | name |
| 597719468 | CV3665792 | single nucleotide variant | NM_001367871.1(FBRSL1):c.724G>A (p.Gly242Arg) | not specified [RCV004918645] | uncertain significance | 12 | 132569958 | 132569958 | Human | | name |
| 597719486 | CV3665794 | single nucleotide variant | NM_001367871.1(FBRSL1):c.496G>T (p.Val166Phe) | not specified [RCV004918647] | uncertain significance | 12 | 132525740 | 132525740 | Human | | name |
| 597719514 | CV3665797 | single nucleotide variant | NM_001367871.1(FBRSL1):c.577G>A (p.Asp193Asn) | not specified [RCV004918650] | uncertain significance | 12 | 132525821 | 132525821 | Human | | name |
| 597719532 | CV3665799 | single nucleotide variant | NM_001367871.1(FBRSL1):c.731T>C (p.Val244Ala) | not specified [RCV004918652] | likely benign | 12 | 132569965 | 132569965 | Human | | name |
| 597698534 | CV3669265 | single nucleotide variant | NM_001367871.1(FBRSL1):c.587C>T (p.Ala196Val) | not specified [RCV004916136] | uncertain significance | 12 | 132527960 | 132527960 | Human | | name |
| 597698586 | CV3669272 | single nucleotide variant | NM_001367871.1(FBRSL1):c.532G>A (p.Asp178Asn) | not specified [RCV004916143] | uncertain significance | 12 | 132525776 | 132525776 | Human | | name |
| 597719315 | CV3669275 | single nucleotide variant | NM_001367871.1(FBRSL1):c.911C>T (p.Pro304Leu) | not specified [RCV004918626] | uncertain significance | 12 | 132570145 | 132570145 | Human | | name |
| 597719322 | CV3669276 | single nucleotide variant | NM_001367871.1(FBRSL1):c.382G>A (p.Ala128Thr) | not specified [RCV004918627] | uncertain significance | 12 | 132508243 | 132508243 | Human | | name |
| 597719328 | CV3669277 | single nucleotide variant | NM_001367871.1(FBRSL1):c.964G>A (p.Ala322Thr) | not specified [RCV004918628] | uncertain significance | 12 | 132570198 | 132570198 | Human | | name |
| 597719361 | CV3669281 | single nucleotide variant | NM_001367871.1(FBRSL1):c.350A>G (p.Lys117Arg) | not specified [RCV004918632] | uncertain significance | 12 | 132508211 | 132508211 | Human | | name |
| 598226559 | CV3962565 | single nucleotide variant | NM_001367871.1(FBRSL1):c.482C>G (p.Ser161Cys) | not specified [RCV005341623] | uncertain significance | 12 | 132508343 | 132508343 | Human | | name |
| 598226579 | CV3962568 | single nucleotide variant | NM_001367871.1(FBRSL1):c.449G>A (p.Cys150Tyr) | not specified [RCV005341626] | uncertain significance | 12 | 132508310 | 132508310 | Human | | name |
| 598226608 | CV3962573 | single nucleotide variant | NM_001367871.1(FBRSL1):c.830C>A (p.Pro277His) | not specified [RCV005341630] | uncertain significance | 12 | 132570064 | 132570064 | Human | | name |
| 598226687 | CV3962584 | single nucleotide variant | NM_001367871.1(FBRSL1):c.962T>G (p.Phe321Cys) | not specified [RCV005341641] | uncertain significance | 12 | 132570196 | 132570196 | Human | | name |
| 152978293 | CV1671489 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2810C>T (p.Ala937Val) | FBRSL1-associated neurodevelopmental syndrome [RCV002227594]|not provided [RCV004694175]|not specified [RCV004917784] | uncertain significance | 12 | 132583579 | 132583579 | Human | 1 | name , trait |
| 156315002 | CV2196728 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2161C>G (p.His721Asp) | not specified [RCV004069412] | uncertain significance | 12 | 132582226 | 132582226 | Human | | name |
| 155963291 | CV2197846 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2033C>T (p.Ser678Phe) | not specified [RCV004077081] | uncertain significance | 12 | 132582098 | 132582098 | Human | | name |
| 156267471 | CV2198824 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2275C>T (p.Leu759Phe) | not specified [RCV004077864] | uncertain significance | 12 | 132583044 | 132583044 | Human | | name |
| 156267485 | CV2198825 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2905C>T (p.Pro969Ser) | not specified [RCV004077865] | uncertain significance | 12 | 132583674 | 132583674 | Human | | name |
| 155961198 | CV2204470 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2285G>C (p.Arg762Pro) | not specified [RCV004079273] | uncertain significance | 12 | 132583054 | 132583054 | Human | | name |
| 156371200 | CV2204491 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2149G>T (p.Ala717Ser) | not specified [RCV004079290] | uncertain significance | 12 | 132582214 | 132582214 | Human | | name |
| 156129941 | CV2209896 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1501G>A (p.Gly501Arg) | not specified [RCV004076349] | uncertain significance | 12 | 132572593 | 132572593 | Human | | name |
| 156043871 | CV2215888 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2342G>C (p.Arg781Pro) | not specified [RCV004096975] | uncertain significance | 12 | 132583111 | 132583111 | Human | | name |
| 156220500 | CV2222315 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1418G>A (p.Arg473Gln) | not specified [RCV004105328] | uncertain significance | 12 | 132572328 | 132572328 | Human | | name |
| 156243472 | CV2231517 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2879T>G (p.Val960Gly) | not specified [RCV004096579] | uncertain significance | 12 | 132583648 | 132583648 | Human | | name |
| 156124956 | CV2237461 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2341C>T (p.Arg781Trp) | not specified [RCV004106422] | uncertain significance | 12 | 132583110 | 132583110 | Human | | name |
| 156300753 | CV2244979 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2062G>A (p.Glu688Lys) | not specified [RCV004104713] | uncertain significance | 12 | 132582127 | 132582127 | Human | | name |
| 156301015 | CV2248916 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1703A>C (p.Glu568Ala) | not specified [RCV004115922] | uncertain significance | 12 | 132576800 | 132576800 | Human | | name |
| 156358490 | CV2251117 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2030G>A (p.Gly677Asp) | not specified [RCV004123657] | uncertain significance | 12 | 132582095 | 132582095 | Human | | name |
| 156339354 | CV2271404 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2525G>T (p.Arg842Leu) | not specified [RCV004136511] | uncertain significance | 12 | 132583294 | 132583294 | Human | | name |
| 156115615 | CV2273378 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1159C>T (p.Pro387Ser) | not specified [RCV004132149] | uncertain significance | 12 | 132570486 | 132570486 | Human | | name |
| 155925129 | CV2277247 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2389C>A (p.Pro797Thr) | not specified [RCV004142867] | uncertain significance | 12 | 132583158 | 132583158 | Human | | name |
| 156077952 | CV2281698 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2455G>C (p.Gly819Arg) | not specified [RCV004147849] | uncertain significance | 12 | 132583224 | 132583224 | Human | | name |
| 155905878 | CV2283219 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1681C>T (p.Arg561Cys) | not specified [RCV004145895] | uncertain significance | 12 | 132574544 | 132574544 | Human | | name |
| 156258720 | CV2304884 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2641C>T (p.Pro881Ser) | not specified [RCV004168804] | uncertain significance | 12 | 132583410 | 132583410 | Human | | name |
| 155961995 | CV2311981 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2621C>T (p.Ser874Phe) | not specified [RCV004170798] | uncertain significance | 12 | 132583390 | 132583390 | Human | | name |
| 156164363 | CV2323668 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1054T>C (p.Ser352Pro) | not specified [RCV004165847] | uncertain significance | 12 | 132570381 | 132570381 | Human | | name |
| 156172807 | CV2326804 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2128G>A (p.Val710Met) | not specified [RCV004176639] | uncertain significance | 12 | 132582193 | 132582193 | Human | | name |
| 156075202 | CV2331722 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2611G>A (p.Ala871Thr) | not specified [RCV004184349] | uncertain significance | 12 | 132583380 | 132583380 | Human | | name |
| 156077174 | CV2331861 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1943G>A (p.Gly648Asp) | not specified [RCV004186517] | uncertain significance | 12 | 132581771 | 132581771 | Human | | name |
| 156307609 | CV2332054 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1475C>A (p.Thr492Asn) | not specified [RCV004189105] | uncertain significance | 12 | 132572567 | 132572567 | Human | | name |
| 156327293 | CV2332083 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2899A>G (p.Thr967Ala) | not specified [RCV004189129] | uncertain significance | 12 | 132583668 | 132583668 | Human | | name |
| 156039709 | CV2332748 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1709A>G (p.Gln570Arg) | not specified [RCV004189420] | uncertain significance | 12 | 132576806 | 132576806 | Human | | name |
| 155918381 | CV2332992 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2650C>T (p.Pro884Ser) | not specified [RCV004194292] | uncertain significance | 12 | 132583419 | 132583419 | Human | | name |
| 156335934 | CV2333596 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2825T>A (p.Leu942His) | not specified [RCV004190278] | uncertain significance | 12 | 132583594 | 132583594 | Human | | name |
| 155973111 | CV2335877 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2561C>T (p.Pro854Leu) | not specified [RCV004196101] | uncertain significance | 12 | 132583330 | 132583330 | Human | | name |
| 155975006 | CV2341496 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1777G>A (p.Val593Met) | not specified [RCV004188890] | uncertain significance | 12 | 132576874 | 132576874 | Human | | name |
| 156063176 | CV2352713 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2108C>T (p.Pro703Leu) | not specified [RCV004198737] | uncertain significance | 12 | 132582173 | 132582173 | Human | | name |
| 156171675 | CV2355008 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2188G>A (p.Glu730Lys) | not specified [RCV004198408] | uncertain significance | 12 | 132582253 | 132582253 | Human | | name |
| 156189909 | CV2356682 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2458G>C (p.Glu820Gln) | not specified [RCV004202040] | uncertain significance | 12 | 132583227 | 132583227 | Human | | name |
| 156305467 | CV2369482 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1129G>A (p.Ala377Thr) | not specified [RCV004210419] | uncertain significance | 12 | 132570456 | 132570456 | Human | | name |
| 156345114 | CV2372870 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1418G>T (p.Arg473Leu) | not specified [RCV004223919] | uncertain significance | 12 | 132572328 | 132572328 | Human | | name |
| 156389044 | CV2376318 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2797C>T (p.Leu933Phe) | not specified [RCV004222579] | uncertain significance | 12 | 132583566 | 132583566 | Human | | name |
| 156347652 | CV2382943 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1616G>A (p.Arg539Gln) | not specified [RCV004217535] | uncertain significance | 12 | 132574335 | 132574335 | Human | | name |
| 156041970 | CV2387780 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2351A>G (p.Glu784Gly) | not specified [RCV004234304] | uncertain significance | 12 | 132583120 | 132583120 | Human | | name |
| 155965192 | CV2395931 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2569G>C (p.Gly857Arg) | not specified [RCV004237486] | uncertain significance | 12 | 132583338 | 132583338 | Human | | name |
| 155998497 | CV2396254 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2248A>C (p.Thr750Pro) | not specified [RCV004240206] | uncertain significance | 12 | 132583017 | 132583017 | Human | | name |
| 156007238 | CV2401290 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2500G>A (p.Ala834Thr) | not specified [RCV004245834] | uncertain significance | 12 | 132583269 | 132583269 | Human | | name |
| 329374870 | CV2440097 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2642C>T (p.Pro881Leu) | not specified [RCV004260563] | uncertain significance | 12 | 132583411 | 132583411 | Human | | name |
| 329392261 | CV2441362 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2567G>A (p.Arg856His) | not specified [RCV004257169] | uncertain significance | 12 | 132583336 | 132583336 | Human | | name |
| 329391128 | CV2447793 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2219C>T (p.Thr740Met) | not specified [RCV004258572] | uncertain significance | 12 | 132582988 | 132582988 | Human | | name |
| 329359348 | CV2450970 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1802A>G (p.Gln601Arg) | not specified [RCV004267856] | uncertain significance | 12 | 132576899 | 132576899 | Human | | name |
| 329363971 | CV2469580 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2746G>A (p.Ala916Thr) | not specified [RCV004283013] | uncertain significance | 12 | 132583515 | 132583515 | Human | | name |
| 401730675 | CV2686642 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2242C>T (p.Pro748Ser) | not specified [RCV004300057] | uncertain significance | 12 | 132583011 | 132583011 | Human | | name |
| 401772567 | CV2687737 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2375A>C (p.Glu792Ala) | not specified [RCV004302725] | uncertain significance | 12 | 132583144 | 132583144 | Human | | name |
| 401772568 | CV2687738 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2376G>C (p.Glu792Asp) | not specified [RCV004302726] | likely benign | 12 | 132583145 | 132583145 | Human | | name |
| 401733108 | CV2691205 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2254G>A (p.Ala752Thr) | not specified [RCV004302979] | uncertain significance | 12 | 132583023 | 132583023 | Human | | name |
| 401764272 | CV2708797 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2738C>T (p.Ala913Val) | not specified [RCV004307753] | uncertain significance | 12 | 132583507 | 132583507 | Human | | name |
| 401889181 | CV2761903 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2807C>T (p.Ala936Val) | not specified [RCV004339537] | uncertain significance | 12 | 132583576 | 132583576 | Human | | name |
| 401875547 | CV2766090 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2342G>A (p.Arg781Gln) | not specified [RCV004340547] | uncertain significance | 12 | 132583111 | 132583111 | Human | | name |
| 401866109 | CV2775420 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2582C>G (p.Pro861Arg) | not specified [RCV004348818] | uncertain significance | 12 | 132583351 | 132583351 | Human | | name |
| 401872142 | CV2792992 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2893C>A (p.Pro965Thr) | not specified [RCV004360331] | uncertain significance | 12 | 132583662 | 132583662 | Human | | name |
| 405778209 | CV3250175 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1103G>A (p.Arg368Gln) | not specified [RCV004386331] | uncertain significance | 12 | 132570430 | 132570430 | Human | | name |
| 405778228 | CV3250178 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1615C>T (p.Arg539Trp) | not specified [RCV004386334] | uncertain significance | 12 | 132574334 | 132574334 | Human | | name |
| 405778240 | CV3250180 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1769C>T (p.Ala590Val) | not specified [RCV004386336] | uncertain significance | 12 | 132576866 | 132576866 | Human | | name |
| 405778255 | CV3250182 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1855A>G (p.Asn619Asp) | not specified [RCV004386338] | uncertain significance | 12 | 132581459 | 132581459 | Human | | name |
| 405778259 | CV3250183 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1915C>T (p.Pro639Ser) | not specified [RCV004386339] | uncertain significance | 12 | 132581743 | 132581743 | Human | | name |
| 405778265 | CV3250184 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2021C>T (p.Pro674Leu) | not specified [RCV004386340] | uncertain significance | 12 | 132582086 | 132582086 | Human | | name |
| 405778270 | CV3250185 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2140C>T (p.Arg714Trp) | not specified [RCV004386341] | uncertain significance | 12 | 132582205 | 132582205 | Human | | name |
| 405778277 | CV3250186 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2180A>C (p.Asn727Thr) | not specified [RCV004386342] | uncertain significance | 12 | 132582245 | 132582245 | Human | | name |
| 405778283 | CV3250187 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2257G>A (p.Gly753Ser) | not specified [RCV004386343] | uncertain significance | 12 | 132583026 | 132583026 | Human | | name |
| 405778289 | CV3250188 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2272G>A (p.Gly758Ser) | not specified [RCV004386344] | likely benign | 12 | 132583041 | 132583041 | Human | | name |
| 405778296 | CV3250189 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2287G>A (p.Ala763Thr) | not specified [RCV004386345] | uncertain significance | 12 | 132583056 | 132583056 | Human | | name |
| 405778308 | CV3250191 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2534T>C (p.Leu845Pro) | not specified [RCV004386347] | uncertain significance | 12 | 132583303 | 132583303 | Human | | name |
| 405778319 | CV3250193 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2596C>T (p.Pro866Ser) | not specified [RCV004386349] | uncertain significance | 12 | 132583365 | 132583365 | Human | | name |
| 405778331 | CV3250195 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2821G>A (p.Gly941Arg) | not specified [RCV004386351] | uncertain significance | 12 | 132583590 | 132583590 | Human | | name |
| 405778337 | CV3250196 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2824C>T (p.Leu942Phe) | not specified [RCV004386352] | uncertain significance | 12 | 132583593 | 132583593 | Human | | name |
| 405778343 | CV3250197 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2870C>T (p.Pro957Leu) | not specified [RCV004386353] | uncertain significance | 12 | 132583639 | 132583639 | Human | | name |
| 405778349 | CV3250198 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2903C>T (p.Pro968Leu) | not specified [RCV004386354] | uncertain significance | 12 | 132583672 | 132583672 | Human | | name |
| 405778502 | CV3250199 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2944C>T (p.Leu982Phe) | not specified [RCV004386355] | uncertain significance | 12 | 132583713 | 132583713 | Human | | name |
| 405778508 | CV3250200 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2972C>A (p.Ser991Tyr) | not specified [RCV004386356] | uncertain significance | 12 | 132583741 | 132583741 | Human | | name |
| 407493726 | CV3442454 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2662C>T (p.Arg888Cys) | not specified [RCV004621125] | uncertain significance | 12 | 132583431 | 132583431 | Human | | name |
| 407493733 | CV3442456 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2475G>T (p.Glu825Asp) | not specified [RCV004621127] | uncertain significance | 12 | 132583244 | 132583244 | Human | | name |
| 407493738 | CV3442457 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2480C>T (p.Pro827Leu) | not specified [RCV004621128] | uncertain significance | 12 | 132583249 | 132583249 | Human | | name |
| 407493748 | CV3442459 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2059C>A (p.His687Asn) | not specified [RCV004621130] | uncertain significance | 12 | 132582124 | 132582124 | Human | | name |
| 407493752 | CV3442460 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1936T>C (p.Phe646Leu) | not specified [RCV004621131] | uncertain significance | 12 | 132581764 | 132581764 | Human | | name |
| 407493756 | CV3442461 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2515G>C (p.Gly839Arg) | not specified [RCV004621132] | uncertain significance | 12 | 132583284 | 132583284 | Human | | name |
| 407493760 | CV3442462 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2875C>G (p.Leu959Val) | not specified [RCV004621133] | uncertain significance | 12 | 132583644 | 132583644 | Human | | name |
| 407493768 | CV3442464 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2830G>T (p.Ala944Ser) | not specified [RCV004621135] | uncertain significance | 12 | 132583599 | 132583599 | Human | | name |
| 597719507 | CV3665796 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2191G>C (p.Glu731Gln) | not specified [RCV004918649] | uncertain significance | 12 | 132582256 | 132582256 | Human | | name |
| 597719540 | CV3665800 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1135A>G (p.Met379Val) | not specified [RCV004918653] | uncertain significance | 12 | 132570462 | 132570462 | Human | | name |
| 597719550 | CV3665801 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2135C>G (p.Ala712Gly) | not specified [RCV004918654] | uncertain significance | 12 | 132582200 | 132582200 | Human | | name |
| 597719557 | CV3665802 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2060A>G (p.His687Arg) | not specified [RCV004918655] | uncertain significance | 12 | 132582125 | 132582125 | Human | | name |
| 597719567 | CV3665803 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1178C>T (p.Pro393Leu) | not specified [RCV004918656] | uncertain significance | 12 | 132570505 | 132570505 | Human | | name |
| 597698543 | CV3669266 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2164G>A (p.Asp722Asn) | not specified [RCV004916137] | uncertain significance | 12 | 132582229 | 132582229 | Human | | name |
| 597698563 | CV3669269 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1025C>T (p.Pro342Leu) | not specified [RCV004916140] | uncertain significance | 12 | 132570352 | 132570352 | Human | | name |
| 597698570 | CV3669270 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2887G>T (p.Ala963Ser) | not specified [RCV004916141] | uncertain significance | 12 | 132583656 | 132583656 | Human | | name |
| 597698578 | CV3669271 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1013G>A (p.Ser338Asn) | not specified [RCV004916142] | uncertain significance | 12 | 132570340 | 132570340 | Human | | name |
| 597719296 | CV3669273 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2252C>G (p.Pro751Arg) | not specified [RCV004918624] | uncertain significance | 12 | 132583021 | 132583021 | Human | | name |
| 597719306 | CV3669274 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2900C>A (p.Thr967Lys) | not specified [RCV004918625] | uncertain significance | 12 | 132583669 | 132583669 | Human | | name |
| 597719335 | CV3669278 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1063G>A (p.Gly355Arg) | not specified [RCV004918629] | uncertain significance | 12 | 132570390 | 132570390 | Human | | name |
| 597719369 | CV3669282 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1798C>A (p.Pro600Thr) | not specified [RCV004918633] | uncertain significance | 12 | 132576895 | 132576895 | Human | | name |
| 597719377 | CV3669283 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2302G>A (p.Gly768Ser) | not specified [RCV004918634] | uncertain significance | 12 | 132583071 | 132583071 | Human | | name |
| 597719392 | CV3669285 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2425C>T (p.Pro809Ser) | not specified [RCV004918636] | uncertain significance | 12 | 132583194 | 132583194 | Human | | name |
| 597719407 | CV3669287 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1814G>T (p.Arg605Leu) | not specified [RCV004918638] | uncertain significance | 12 | 132576911 | 132576911 | Human | | name |
| 597719415 | CV3669288 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2431G>A (p.Asp811Asn) | not specified [RCV004918639] | uncertain significance | 12 | 132583200 | 132583200 | Human | | name |
| 597719434 | CV3669290 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2527G>A (p.Glu843Lys) | not specified [RCV004918641] | uncertain significance | 12 | 132583296 | 132583296 | Human | | name |
| 597719442 | CV3669291 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2611G>C (p.Ala871Pro) | not specified [RCV004918642] | uncertain significance | 12 | 132583380 | 132583380 | Human | | name |
| 597719451 | CV3669292 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2588G>A (p.Arg863His) | not specified [RCV004918643] | uncertain significance | 12 | 132583357 | 132583357 | Human | | name |
| 597719459 | CV3669293 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2288C>G (p.Ala763Gly) | not specified [RCV004918644] | likely benign | 12 | 132583057 | 132583057 | Human | | name |
| 598222574 | CV3893894 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2669C>T (p.Pro890Leu) | not provided [RCV005257137] | likely benign | 12 | 132583438 | 132583438 | Human | | name |
| 598226566 | CV3962566 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1000G>A (p.Gly334Ser) | not specified [RCV005341624] | likely benign | 12 | 132570234 | 132570234 | Human | | name |
| 598271701 | CV3962569 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1814G>A (p.Arg605Gln) | not specified [RCV005327802] | uncertain significance | 12 | 132576911 | 132576911 | Human | | name |
| 598226592 | CV3962571 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2723C>G (p.Pro908Arg) | not specified [RCV005341628] | uncertain significance | 12 | 132583492 | 132583492 | Human | | name |
| 598226616 | CV3962574 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1918T>C (p.Phe640Leu) | not specified [RCV005341631] | uncertain significance | 12 | 132581746 | 132581746 | Human | | name |
| 598226634 | CV3962576 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1918T>G (p.Phe640Val) | not specified [RCV005341633] | uncertain significance | 12 | 132581746 | 132581746 | Human | | name |
| 598226643 | CV3962577 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2168G>A (p.Arg723Gln) | not specified [RCV005341634] | uncertain significance | 12 | 132582233 | 132582233 | Human | | name |
| 598226665 | CV3962580 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1471C>T (p.Pro491Ser) | not specified [RCV005341637] | uncertain significance | 12 | 132572563 | 132572563 | Human | | name |
| 598226676 | CV3962582 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1636G>A (p.Gly546Arg) | not specified [RCV005341639] | uncertain significance | 12 | 132574499 | 132574499 | Human | | name |
| 598226682 | CV3962583 | single nucleotide variant | NM_001367871.1(FBRSL1):c.2959G>A (p.Ala987Thr) | not specified [RCV005341640] | uncertain significance | 12 | 132583728 | 132583728 | Human | | name |
| 40815112 | CV970319 | single nucleotide variant | NM_001367871.1(FBRSL1):c.1522C>G (p.Gln508Glu) | Moyamoya angiopathy [RCV004704493] | likely pathogenic | 12 | 132572614 | 132572614 | Human | | name |
| 156445011 | CV1949070 | duplication | NM_001367871.1(FBRSL1):c.885_899dup (p.Pro299_Gln300insHisArgHisThrPro) | not provided [RCV003115945] | uncertain significance | 12 | 132570111 | 132570112 | Human | | name |