| 407495318 | CV3474391 | single nucleotide variant | NM_017575.5(SMG6):c.10G>A (p.Gly4Arg) | not specified [RCV004667847] | uncertain significance | 17 | 2303711 | 2303711 | Human | | name |
| 155986284 | CV2363633 | single nucleotide variant | NM_017575.5(SMG6):c.64C>G (p.Leu22Val) | not specified [RCV004216587] | uncertain significance | 17 | 2303657 | 2303657 | Human | | name |
| 401888265 | CV2788226 | single nucleotide variant | NM_017575.5(SMG6):c.47G>A (p.Arg16His) | not specified [RCV004352832] | uncertain significance | 17 | 2303674 | 2303674 | Human | | name |
| 401913867 | CV2814694 | single nucleotide variant | NM_017575.5(SMG6):c.693C>T (p.Asp231=) | not provided [RCV003428046] | likely benign | 17 | 2300060 | 2300060 | Human | | name |
| 401913869 | CV2814695 | single nucleotide variant | NM_017575.5(SMG6):c.585A>G (p.Pro195=) | not provided [RCV003428047] | likely benign | 17 | 2300168 | 2300168 | Human | | name |
| 156400250 | CV2199063 | single nucleotide variant | NM_017575.5(SMG6):c.272C>T (p.Thr91Ile) | not specified [RCV004080464] | uncertain significance | 17 | 2300481 | 2300481 | Human | | name |
| 156400252 | CV2199064 | single nucleotide variant | NM_017575.5(SMG6):c.275A>T (p.Gln92Leu) | not specified [RCV004080465] | uncertain significance | 17 | 2300478 | 2300478 | Human | | name |
| 329352405 | CV2452969 | single nucleotide variant | NM_017575.5(SMG6):c.296A>G (p.Lys99Arg) | not specified [RCV004277597] | uncertain significance | 17 | 2300457 | 2300457 | Human | | name |
| 401880980 | CV2789451 | single nucleotide variant | NM_017575.5(SMG6):c.122G>A (p.Arg41His) | not specified [RCV004360083] | uncertain significance | 17 | 2300631 | 2300631 | Human | | name |
| 405787755 | CV3329681 | single nucleotide variant | NM_017575.5(SMG6):c.1275A>G (p.Pro425=) | not specified [RCV004459899] | likely benign | 17 | 2299478 | 2299478 | Human | | name |
| 407495330 | CV3474394 | single nucleotide variant | NM_017575.5(SMG6):c.202C>G (p.Pro68Ala) | not specified [RCV004667850] | uncertain significance | 17 | 2300551 | 2300551 | Human | | name |
| 596945091 | CV3544490 | single nucleotide variant | NM_017575.5(SMG6):c.2337G>T (p.Thr779=) | Corpus callosum agenesis-abnormal genitalia syndrome [RCV004801972] | uncertain significance | 17 | 2292552 | 2292552 | Human | 1 | name |
| 597743796 | CV3597115 | single nucleotide variant | NM_017575.5(SMG6):c.206C>T (p.Pro69Leu) | not specified [RCV004865333] | uncertain significance | 17 | 2300547 | 2300547 | Human | | name |
| 598271972 | CV3915083 | single nucleotide variant | NM_017575.5(SMG6):c.161C>G (p.Pro54Arg) | not specified [RCV005282501] | uncertain significance | 17 | 2300592 | 2300592 | Human | | name |
| 598271977 | CV3915084 | single nucleotide variant | NM_017575.5(SMG6):c.125A>G (p.Lys42Arg) | not specified [RCV005282502] | uncertain significance | 17 | 2300628 | 2300628 | Human | | name |
| 598272065 | CV3915103 | single nucleotide variant | NM_017575.5(SMG6):c.229G>A (p.Glu77Lys) | not specified [RCV005282519] | uncertain significance | 17 | 2300524 | 2300524 | Human | | name |
| 15183073 | CV727072 | single nucleotide variant | NM_017575.5(SMG6):c.1098G>A (p.Val366=) | not provided [RCV000886143] | benign | 17 | 2299655 | 2299655 | Human | | name |
| 34891548 | CV904644 | single nucleotide variant | NM_017575.5(SMG6):c.1176G>A (p.Gln392=) | not provided [RCV001172107] | likely benign | 17 | 2299577 | 2299577 | Human | | name |
| 155991172 | CV2255632 | single nucleotide variant | NM_017575.5(SMG6):c.784G>C (p.Ala262Pro) | not specified [RCV004120041] | uncertain significance | 17 | 2299969 | 2299969 | Human | | name |
| 156242993 | CV2283236 | single nucleotide variant | NM_017575.5(SMG6):c.341A>G (p.Asn114Ser) | not specified [RCV004145908] | uncertain significance | 17 | 2300412 | 2300412 | Human | | name |
| 156293804 | CV2306362 | single nucleotide variant | NM_017575.5(SMG6):c.911T>C (p.Leu304Ser) | not specified [RCV004163063] | uncertain significance | 17 | 2299842 | 2299842 | Human | | name |
| 156147782 | CV2307297 | single nucleotide variant | NM_017575.5(SMG6):c.557T>C (p.Val186Ala) | not specified [RCV004165992] | likely benign | 17 | 2300196 | 2300196 | Human | | name |
| 156115946 | CV2349340 | single nucleotide variant | NM_017575.5(SMG6):c.706G>A (p.Gly236Arg) | not specified [RCV004199280] | uncertain significance | 17 | 2300047 | 2300047 | Human | | name |
| 156186167 | CV2377926 | single nucleotide variant | NM_017575.5(SMG6):c.737G>A (p.Arg246His) | not specified [RCV004230492] | uncertain significance | 17 | 2300016 | 2300016 | Human | | name |
| 156007763 | CV2392653 | single nucleotide variant | NM_017575.5(SMG6):c.335C>T (p.Pro112Leu) | not specified [RCV004247035] | uncertain significance | 17 | 2300418 | 2300418 | Human | | name |
| 155931595 | CV2399869 | single nucleotide variant | NM_017575.5(SMG6):c.560C>T (p.Ala187Val) | not specified [RCV004246813] | likely benign | 17 | 2300193 | 2300193 | Human | | name |
| 329369321 | CV2424788 | single nucleotide variant | NM_017575.5(SMG6):c.401T>C (p.Ile134Thr) | not specified [RCV004248678] | uncertain significance | 17 | 2300352 | 2300352 | Human | | name |
| 329400784 | CV2438792 | single nucleotide variant | NM_017575.5(SMG6):c.481A>G (p.Ser161Gly) | not specified [RCV004261931] | uncertain significance | 17 | 2300272 | 2300272 | Human | | name |
| 401742340 | CV2677563 | single nucleotide variant | NM_017575.5(SMG6):c.698C>T (p.Pro233Leu) | not provided [RCV004696416]|not specified [RCV004291666] | uncertain significance | 17 | 2300055 | 2300055 | Human | | name |
| 401765204 | CV2733556 | single nucleotide variant | NM_017575.5(SMG6):c.835C>T (p.Arg279Cys) | not specified [RCV004330421] | uncertain significance | 17 | 2299918 | 2299918 | Human | | name |
| 401879798 | CV2769749 | single nucleotide variant | NM_017575.5(SMG6):c.805G>A (p.Glu269Lys) | not specified [RCV004351666] | uncertain significance | 17 | 2299948 | 2299948 | Human | | name |
| 401885901 | CV2771471 | single nucleotide variant | NM_017575.5(SMG6):c.769C>T (p.Arg257Cys) | not specified [RCV004348516] | likely benign | 17 | 2299984 | 2299984 | Human | | name |
| 405787870 | CV3329707 | single nucleotide variant | NM_017575.5(SMG6):c.575C>G (p.Ala192Gly) | not specified [RCV004459925] | uncertain significance | 17 | 2300178 | 2300178 | Human | | name |
| 405787875 | CV3329708 | single nucleotide variant | NM_017575.5(SMG6):c.644A>G (p.Glu215Gly) | not specified [RCV004459926] | uncertain significance | 17 | 2300109 | 2300109 | Human | | name |
| 405711908 | CV3329709 | single nucleotide variant | NM_017575.5(SMG6):c.902C>T (p.Thr301Ile) | not specified [RCV004461910] | uncertain significance | 17 | 2299851 | 2299851 | Human | | name |
| 407495280 | CV3474381 | single nucleotide variant | NM_017575.5(SMG6):c.608G>T (p.Ser203Ile) | not specified [RCV004667838] | uncertain significance | 17 | 2300145 | 2300145 | Human | | name |
| 407495300 | CV3474387 | single nucleotide variant | NM_017575.5(SMG6):c.668G>A (p.Gly223Glu) | not specified [RCV004667843] | uncertain significance | 17 | 2300085 | 2300085 | Human | | name |
| 597727008 | CV3597108 | single nucleotide variant | NM_017575.5(SMG6):c.839G>A (p.Arg280His) | not specified [RCV004862633] | uncertain significance | 17 | 2299914 | 2299914 | Human | | name |
| 597743818 | CV3597119 | single nucleotide variant | NM_017575.5(SMG6):c.713C>T (p.Pro238Leu) | not specified [RCV004865337] | uncertain significance | 17 | 2300040 | 2300040 | Human | | name |
| 597727057 | CV3597121 | single nucleotide variant | NM_017575.5(SMG6):c.802G>A (p.Ala268Thr) | not specified [RCV004862638] | uncertain significance | 17 | 2299951 | 2299951 | Human | | name |
| 597743858 | CV3597129 | single nucleotide variant | NM_017575.5(SMG6):c.490G>A (p.Glu164Lys) | not specified [RCV004865344] | uncertain significance | 17 | 2300263 | 2300263 | Human | | name |
| 598271938 | CV3915077 | single nucleotide variant | NM_017575.5(SMG6):c.767C>T (p.Thr256Met) | not specified [RCV005282495] | uncertain significance | 17 | 2299986 | 2299986 | Human | | name |
| 598271941 | CV3915078 | single nucleotide variant | NM_017575.5(SMG6):c.842G>A (p.Arg281His) | not specified [RCV005282496] | uncertain significance | 17 | 2299911 | 2299911 | Human | | name |
| 598271959 | CV3915081 | single nucleotide variant | NM_017575.5(SMG6):c.451C>T (p.Arg151Cys) | not specified [RCV005282499] | uncertain significance | 17 | 2300302 | 2300302 | Human | | name |
| 598272014 | CV3915092 | single nucleotide variant | NM_017575.5(SMG6):c.728G>A (p.Arg243His) | not specified [RCV005282509] | uncertain significance | 17 | 2300025 | 2300025 | Human | | name |
| 598272018 | CV3915093 | single nucleotide variant | NM_017575.5(SMG6):c.613G>C (p.Gly205Arg) | not specified [RCV005282510] | uncertain significance | 17 | 2300140 | 2300140 | Human | | name |
| 598272029 | CV3915095 | single nucleotide variant | NM_017575.5(SMG6):c.863A>T (p.Glu288Val) | not specified [RCV005282512] | uncertain significance | 17 | 2299890 | 2299890 | Human | | name |
| 15161855 | CV704039 | single nucleotide variant | NM_017575.5(SMG6):c.691G>C (p.Asp231His) | not provided [RCV000947748] | benign | 17 | 2300062 | 2300062 | Human | | name |
| 15139749 | CV715302 | single nucleotide variant | NM_017575.5(SMG6):c.826A>G (p.Asn276Asp) | not provided [RCV000966019] | benign | 17 | 2299927 | 2299927 | Human | | name |
| 156373752 | CV2201391 | single nucleotide variant | NM_017575.5(SMG6):c.1896G>C (p.Glu632Asp) | not specified [RCV004077510] | uncertain significance | 17 | 2298007 | 2298007 | Human | | name |
| 156073355 | CV2233434 | single nucleotide variant | NM_017575.5(SMG6):c.1565A>G (p.Tyr522Cys) | not specified [RCV004105790] | uncertain significance | 17 | 2299188 | 2299188 | Human | | name |
| 155970721 | CV2241547 | single nucleotide variant | NM_017575.5(SMG6):c.2057A>G (p.Asp686Gly) | not specified [RCV004104442] | uncertain significance | 17 | 2297337 | 2297337 | Human | | name |
| 156191461 | CV2255254 | single nucleotide variant | NM_017575.5(SMG6):c.1163G>C (p.Gly388Ala) | not specified [RCV004117645] | uncertain significance | 17 | 2299590 | 2299590 | Human | | name |
| 156104281 | CV2260564 | single nucleotide variant | NM_017575.5(SMG6):c.1882C>G (p.Leu628Val) | not specified [RCV004123339] | uncertain significance | 17 | 2298021 | 2298021 | Human | | name |
| 156153828 | CV2266028 | single nucleotide variant | NM_017575.5(SMG6):c.2584C>G (p.Pro862Ala) | not specified [RCV004599515] | uncertain significance | 17 | 2282724 | 2282724 | Human | | name |
| 156153845 | CV2266029 | single nucleotide variant | NM_017575.5(SMG6):c.2651G>A (p.Ser884Asn) | not specified [RCV004126849] | uncertain significance | 17 | 2282657 | 2282657 | Human | | name |
| 155987893 | CV2275736 | single nucleotide variant | NM_017575.5(SMG6):c.1210C>T (p.Arg404Cys) | not specified [RCV004137340] | uncertain significance | 17 | 2299543 | 2299543 | Human | | name |
| 156130916 | CV2279885 | single nucleotide variant | NM_017575.5(SMG6):c.1085A>G (p.Glu362Gly) | not specified [RCV004144477] | uncertain significance | 17 | 2299668 | 2299668 | Human | | name |
| 156282469 | CV2288826 | single nucleotide variant | NM_017575.5(SMG6):c.1340G>C (p.Gly447Ala) | not specified [RCV004148033] | uncertain significance | 17 | 2299413 | 2299413 | Human | | name |
| 156205950 | CV2297922 | single nucleotide variant | NM_017575.5(SMG6):c.2360A>T (p.Tyr787Phe) | not specified [RCV004157851] | uncertain significance | 17 | 2283713 | 2283713 | Human | | name |
| 156204189 | CV2300791 | single nucleotide variant | NM_017575.5(SMG6):c.1261T>C (p.Ser421Pro) | not specified [RCV004155718] | uncertain significance | 17 | 2299492 | 2299492 | Human | | name |
| 155966807 | CV2304803 | single nucleotide variant | NM_017575.5(SMG6):c.1756C>T (p.Arg586Trp) | not specified [RCV004166943] | uncertain significance | 17 | 2298997 | 2298997 | Human | | name |
| 156044570 | CV2308013 | single nucleotide variant | NM_017575.5(SMG6):c.1118T>C (p.Met373Thr) | not specified [RCV004170442] | uncertain significance | 17 | 2299635 | 2299635 | Human | | name |
| 156037585 | CV2313548 | single nucleotide variant | NM_017575.5(SMG6):c.2891G>A (p.Arg964His) | not specified [RCV004163840] | uncertain significance | 17 | 2188494 | 2188494 | Human | | name |
| 156350329 | CV2316188 | single nucleotide variant | NM_017575.5(SMG6):c.1757G>C (p.Arg586Pro) | not specified [RCV004174231] | uncertain significance | 17 | 2298996 | 2298996 | Human | | name |
| 156257844 | CV2322096 | single nucleotide variant | NM_017575.5(SMG6):c.2813G>A (p.Arg938His) | not specified [RCV004173838] | uncertain significance | 17 | 2236548 | 2236548 | Human | | name |
| 156179630 | CV2331399 | single nucleotide variant | NM_017575.5(SMG6):c.2984A>G (p.Lys995Arg) | not specified [RCV004184037] | uncertain significance | 17 | 2188401 | 2188401 | Human | | name |
| 155932372 | CV2400010 | single nucleotide variant | NM_017575.5(SMG6):c.1874G>A (p.Arg625His) | not specified [RCV004246934] | uncertain significance | 17 | 2298029 | 2298029 | Human | | name |
| 329358886 | CV2450674 | single nucleotide variant | NM_017575.5(SMG6):c.1040G>A (p.Arg347Gln) | not specified [RCV004267627] | uncertain significance | 17 | 2299713 | 2299713 | Human | | name |
| 329397637 | CV2456426 | single nucleotide variant | NM_017575.5(SMG6):c.1836G>T (p.Met612Ile) | not specified [RCV004275583] | uncertain significance | 17 | 2298917 | 2298917 | Human | | name |
| 329388559 | CV2469380 | single nucleotide variant | NM_017575.5(SMG6):c.2110A>G (p.Met704Val) | not specified [RCV004281013] | uncertain significance | 17 | 2297284 | 2297284 | Human | | name |
| 401732635 | CV2691064 | single nucleotide variant | NM_017575.5(SMG6):c.1609G>T (p.Gly537Cys) | not specified [RCV004301070] | uncertain significance | 17 | 2299144 | 2299144 | Human | | name |
| 401774119 | CV2702587 | single nucleotide variant | NM_017575.5(SMG6):c.1259A>G (p.Asn420Ser) | not specified [RCV004317070] | likely benign | 17 | 2299494 | 2299494 | Human | | name |
| 401763106 | CV2720197 | single nucleotide variant | NM_017575.5(SMG6):c.2591C>T (p.Ser864Phe) | not specified [RCV004325536] | uncertain significance | 17 | 2282717 | 2282717 | Human | | name |
| 401889537 | CV2758176 | single nucleotide variant | NM_017575.5(SMG6):c.1123A>G (p.Arg375Gly) | not specified [RCV004341546] | uncertain significance | 17 | 2299630 | 2299630 | Human | | name |
| 401876392 | CV2770756 | single nucleotide variant | NM_017575.5(SMG6):c.2816T>C (p.Met939Thr) | not specified [RCV004349796] | uncertain significance | 17 | 2236545 | 2236545 | Human | | name |
| 401858894 | CV2774969 | single nucleotide variant | NM_017575.5(SMG6):c.1580C>T (p.Pro527Leu) | not specified [RCV004346369] | uncertain significance | 17 | 2299173 | 2299173 | Human | | name |
| 401891155 | CV2778673 | single nucleotide variant | NM_017575.5(SMG6):c.1255G>T (p.Val419Phe) | not specified [RCV004346311] | uncertain significance | 17 | 2299498 | 2299498 | Human | | name |
| 405787732 | CV3329676 | single nucleotide variant | NM_017575.5(SMG6):c.1048C>G (p.Leu350Val) | not specified [RCV004459894] | uncertain significance | 17 | 2299705 | 2299705 | Human | | name |
| 405787737 | CV3329677 | single nucleotide variant | NM_017575.5(SMG6):c.1051C>T (p.Arg351Cys) | not specified [RCV004459895] | uncertain significance | 17 | 2299702 | 2299702 | Human | | name |
| 405787742 | CV3329678 | single nucleotide variant | NM_017575.5(SMG6):c.1139A>G (p.Lys380Arg) | not specified [RCV004459896] | uncertain significance | 17 | 2299614 | 2299614 | Human | | name |
| 405787746 | CV3329679 | single nucleotide variant | NM_017575.5(SMG6):c.1216C>G (p.Arg406Gly) | not specified [RCV004459897] | uncertain significance | 17 | 2299537 | 2299537 | Human | | name |
| 405787758 | CV3329682 | single nucleotide variant | NM_017575.5(SMG6):c.1397C>G (p.Ala466Gly) | not specified [RCV004459900] | uncertain significance | 17 | 2299356 | 2299356 | Human | | name |
| 405787762 | CV3329683 | single nucleotide variant | NM_017575.5(SMG6):c.1419G>T (p.Gln473His) | not specified [RCV004459901] | uncertain significance | 17 | 2299334 | 2299334 | Human | | name |
| 405787765 | CV3329684 | single nucleotide variant | NM_017575.5(SMG6):c.1534C>T (p.Arg512Trp) | not specified [RCV004459902] | uncertain significance | 17 | 2299219 | 2299219 | Human | | name |
| 405787775 | CV3329686 | single nucleotide variant | NM_017575.5(SMG6):c.2020C>A (p.Leu674Ile) | not specified [RCV004459904] | uncertain significance | 17 | 2297883 | 2297883 | Human | | name |
| 405787781 | CV3329687 | single nucleotide variant | NM_017575.5(SMG6):c.2064G>C (p.Leu688Phe) | not specified [RCV004459905] | uncertain significance | 17 | 2297330 | 2297330 | Human | | name |
| 405787790 | CV3329689 | single nucleotide variant | NM_017575.5(SMG6):c.2474A>G (p.His825Arg) | not specified [RCV004459907] | uncertain significance | 17 | 2282834 | 2282834 | Human | | name |
| 405787792 | CV3329690 | single nucleotide variant | NM_017575.5(SMG6):c.2531G>A (p.Arg844Gln) | not specified [RCV004459908] | uncertain significance | 17 | 2282777 | 2282777 | Human | | name |
| 405787797 | CV3329691 | single nucleotide variant | NM_017575.5(SMG6):c.2890C>T (p.Arg964Cys) | not specified [RCV004459909] | uncertain significance | 17 | 2188495 | 2188495 | Human | | name |
| 407495276 | CV3474380 | single nucleotide variant | NM_017575.5(SMG6):c.1282G>A (p.Ala428Thr) | not specified [RCV004667837] | likely benign | 17 | 2299471 | 2299471 | Human | | name |
| 407495283 | CV3474382 | single nucleotide variant | NM_017575.5(SMG6):c.1829A>G (p.Glu610Gly) | not specified [RCV004667839] | uncertain significance | 17 | 2298924 | 2298924 | Human | | name |
| 407495310 | CV3474389 | single nucleotide variant | NM_017575.5(SMG6):c.2934G>A (p.Met978Ile) | not specified [RCV004667845] | uncertain significance | 17 | 2188451 | 2188451 | Human | | name |
| 407495314 | CV3474390 | single nucleotide variant | NM_017575.5(SMG6):c.2864T>C (p.Leu955Pro) | not specified [RCV004667846] | uncertain significance | 17 | 2236497 | 2236497 | Human | | name |
| 407495326 | CV3474393 | single nucleotide variant | NM_017575.5(SMG6):c.1146G>C (p.Leu382Phe) | not specified [RCV004667849] | likely benign | 17 | 2299607 | 2299607 | Human | | name |
| 407495336 | CV3474395 | single nucleotide variant | NM_017575.5(SMG6):c.2736C>G (p.Phe912Leu) | not specified [RCV004667851] | uncertain significance | 17 | 2236625 | 2236625 | Human | | name |
| 597727019 | CV3597109 | single nucleotide variant | NM_017575.5(SMG6):c.2061T>G (p.Ser687Arg) | not specified [RCV004862634] | uncertain significance | 17 | 2297333 | 2297333 | Human | | name |
| 597727027 | CV3597111 | single nucleotide variant | NM_017575.5(SMG6):c.1690A>G (p.Met564Val) | not specified [RCV004862635] | uncertain significance | 17 | 2299063 | 2299063 | Human | | name |
| 597727035 | CV3597112 | single nucleotide variant | NM_017575.5(SMG6):c.2392C>T (p.Pro798Ser) | not specified [RCV004862636] | uncertain significance | 17 | 2283681 | 2283681 | Human | | name |
| 597743802 | CV3597116 | single nucleotide variant | NM_017575.5(SMG6):c.1073C>G (p.Ala358Gly) | not specified [RCV004865334] | uncertain significance | 17 | 2299680 | 2299680 | Human | | name |
| 597743835 | CV3597123 | single nucleotide variant | NM_017575.5(SMG6):c.1474C>T (p.Arg492Cys) | not specified [RCV004865340] | uncertain significance | 17 | 2299279 | 2299279 | Human | | name |
| 597743851 | CV3597128 | single nucleotide variant | NM_017575.5(SMG6):c.2191T>C (p.Cys731Arg) | not specified [RCV004865343] | uncertain significance | 17 | 2292938 | 2292938 | Human | | name |
| 597743864 | CV3597130 | single nucleotide variant | NM_017575.5(SMG6):c.2813G>C (p.Arg938Pro) | not specified [RCV004865345] | uncertain significance | 17 | 2236548 | 2236548 | Human | | name |
| 597743870 | CV3597131 | single nucleotide variant | NM_017575.5(SMG6):c.1397C>T (p.Ala466Val) | not specified [RCV004865346] | uncertain significance | 17 | 2299356 | 2299356 | Human | | name |
| 597743879 | CV3597133 | single nucleotide variant | NM_017575.5(SMG6):c.1111G>A (p.Asp371Asn) | not specified [RCV004865348] | uncertain significance | 17 | 2299642 | 2299642 | Human | | name |
| 597743884 | CV3597134 | single nucleotide variant | NM_017575.5(SMG6):c.1181C>G (p.Ser394Cys) | not specified [RCV004865349] | uncertain significance | 17 | 2299572 | 2299572 | Human | | name |
| 597743890 | CV3597135 | single nucleotide variant | NM_017575.5(SMG6):c.1760T>C (p.Val587Ala) | not specified [RCV004865350] | uncertain significance | 17 | 2298993 | 2298993 | Human | | name |
| 597743895 | CV3597136 | single nucleotide variant | NM_017575.5(SMG6):c.2229T>G (p.Ser743Arg) | not specified [RCV004865351] | uncertain significance | 17 | 2292900 | 2292900 | Human | | name |
| 597727084 | CV3597137 | single nucleotide variant | NM_017575.5(SMG6):c.1115A>G (p.Asp372Gly) | not specified [RCV004862641] | uncertain significance | 17 | 2299638 | 2299638 | Human | | name |
| 598271933 | CV3915076 | single nucleotide variant | NM_017575.5(SMG6):c.2011C>T (p.Arg671Trp) | not specified [RCV005282494] | uncertain significance | 17 | 2297892 | 2297892 | Human | | name |
| 598271954 | CV3915080 | single nucleotide variant | NM_017575.5(SMG6):c.2833A>G (p.Ile945Val) | not specified [RCV005282498] | uncertain significance | 17 | 2236528 | 2236528 | Human | | name |
| 598271986 | CV3915086 | single nucleotide variant | NM_017575.5(SMG6):c.1348G>A (p.Gly450Ser) | not specified [RCV005282504] | uncertain significance | 17 | 2299405 | 2299405 | Human | | name |
| 598271992 | CV3915087 | single nucleotide variant | NM_017575.5(SMG6):c.2246G>A (p.Gly749Glu) | not specified [RCV005282505] | uncertain significance | 17 | 2292883 | 2292883 | Human | | name |
| 598271998 | CV3915088 | single nucleotide variant | NM_017575.5(SMG6):c.1666T>A (p.Cys556Ser) | not specified [RCV005282506] | uncertain significance | 17 | 2299087 | 2299087 | Human | | name |
| 598238172 | CV3915089 | single nucleotide variant | NM_017575.5(SMG6):c.1694G>A (p.Ser565Asn) | not specified [RCV005275788] | uncertain significance | 17 | 2299059 | 2299059 | Human | | name |
| 598272008 | CV3915091 | single nucleotide variant | NM_017575.5(SMG6):c.2090A>G (p.Lys697Arg) | not specified [RCV005282508] | uncertain significance | 17 | 2297304 | 2297304 | Human | | name |
| 598272034 | CV3915096 | single nucleotide variant | NM_017575.5(SMG6):c.2657G>T (p.Ser886Ile) | not specified [RCV005282513] | uncertain significance | 17 | 2282651 | 2282651 | Human | | name |
| 598272038 | CV3915097 | single nucleotide variant | NM_017575.5(SMG6):c.1538C>T (p.Thr513Ile) | not specified [RCV005282514] | uncertain significance | 17 | 2299215 | 2299215 | Human | | name |
| 598272055 | CV3915100 | single nucleotide variant | NM_017575.5(SMG6):c.2216G>A (p.Arg739Gln) | not specified [RCV005282517] | uncertain significance | 17 | 2292913 | 2292913 | Human | | name |
| 598238177 | CV3915102 | single nucleotide variant | NM_017575.5(SMG6):c.2044A>G (p.Ser682Gly) | not specified [RCV005275789] | uncertain significance | 17 | 2297350 | 2297350 | Human | | name |
| 156253442 | CV2193068 | single nucleotide variant | NM_017575.5(SMG6):c.3050C>T (p.Pro1017Leu) | not specified [RCV004069613] | uncertain significance | 17 | 2186768 | 2186768 | Human | | name |
| 156341303 | CV2225807 | single nucleotide variant | NM_017575.5(SMG6):c.3883C>T (p.Arg1295Trp) | not specified [RCV004103214] | uncertain significance | 17 | 2065632 | 2065632 | Human | | name |
| 155973248 | CV2335895 | single nucleotide variant | NM_017575.5(SMG6):c.3842A>G (p.Asn1281Ser) | not specified [RCV004196114] | uncertain significance | 17 | 2065673 | 2065673 | Human | | name |
| 156236608 | CV2356124 | single nucleotide variant | NM_017575.5(SMG6):c.3581A>G (p.Glu1194Gly) | not specified [RCV004203932] | uncertain significance | 17 | 2081910 | 2081910 | Human | | name |
| 156103560 | CV2386911 | single nucleotide variant | NM_017575.5(SMG6):c.3245C>T (p.Pro1082Leu) | not specified [RCV004233543] | uncertain significance | 17 | 2172770 | 2172770 | Human | | name |
| 329358122 | CV2427949 | single nucleotide variant | NM_017575.5(SMG6):c.4015G>A (p.Ala1339Thr) | not specified [RCV004254335] | uncertain significance | 17 | 2065500 | 2065500 | Human | | name |
| 329383411 | CV2434521 | single nucleotide variant | NM_017575.5(SMG6):c.4127A>G (p.Lys1376Arg) | not specified [RCV004254225] | uncertain significance | 17 | 2065075 | 2065075 | Human | | name |
| 401745202 | CV2693205 | single nucleotide variant | NM_017575.5(SMG6):c.3067C>T (p.Leu1023Phe) | not specified [RCV004293133] | uncertain significance | 17 | 2186751 | 2186751 | Human | | name |
| 401761093 | CV2706212 | single nucleotide variant | NM_017575.5(SMG6):c.3352G>A (p.Asp1118Asn) | not specified [RCV004314887] | uncertain significance | 17 | 2172663 | 2172663 | Human | | name |
| 401773302 | CV2716520 | single nucleotide variant | NM_017575.5(SMG6):c.3610G>C (p.Glu1204Gln) | not specified [RCV004327604] | uncertain significance | 17 | 2081881 | 2081881 | Human | | name |
| 401761615 | CV2726838 | single nucleotide variant | NM_017575.5(SMG6):c.3961C>T (p.Arg1321Trp) | not specified [RCV004323142] | uncertain significance | 17 | 2065554 | 2065554 | Human | | name |
| 401879886 | CV2755313 | single nucleotide variant | NM_017575.5(SMG6):c.4120G>A (p.Ala1374Thr) | not specified [RCV004337484] | likely benign | 17 | 2065082 | 2065082 | Human | | name |
| 401860853 | CV2772274 | single nucleotide variant | NM_017575.5(SMG6):c.3788C>T (p.Ala1263Val) | not specified [RCV004353298] | uncertain significance | 17 | 2068825 | 2068825 | Human | | name |
| 401867049 | CV2780045 | single nucleotide variant | NM_017575.5(SMG6):c.3225G>C (p.Glu1075Asp) | not specified [RCV004355714] | uncertain significance | 17 | 2172790 | 2172790 | Human | | name |
| 405787802 | CV3329692 | single nucleotide variant | NM_017575.5(SMG6):c.3025G>A (p.Asp1009Asn) | not specified [RCV004459910] | uncertain significance | 17 | 2186793 | 2186793 | Human | | name |
| 405787806 | CV3329693 | single nucleotide variant | NM_017575.5(SMG6):c.3038C>T (p.Ser1013Phe) | not specified [RCV004459911] | uncertain significance | 17 | 2186780 | 2186780 | Human | | name |
| 405787811 | CV3329694 | single nucleotide variant | NM_017575.5(SMG6):c.3121A>T (p.Asn1041Tyr) | not specified [RCV004459912] | uncertain significance | 17 | 2186697 | 2186697 | Human | | name |
| 405787816 | CV3329695 | single nucleotide variant | NM_017575.5(SMG6):c.3269T>C (p.Ile1090Thr) | not specified [RCV004459913] | uncertain significance | 17 | 2172746 | 2172746 | Human | | name |
| 405787821 | CV3329696 | single nucleotide variant | NM_017575.5(SMG6):c.3488T>C (p.Met1163Thr) | not specified [RCV004459914] | uncertain significance | 17 | 2085771 | 2085771 | Human | | name |
| 405787824 | CV3329697 | single nucleotide variant | NM_017575.5(SMG6):c.3657G>T (p.Gln1219His) | not specified [RCV004459915] | uncertain significance | 17 | 2081834 | 2081834 | Human | | name |
| 405787829 | CV3329698 | single nucleotide variant | NM_017575.5(SMG6):c.3686T>C (p.Val1229Ala) | not specified [RCV004459916] | uncertain significance | 17 | 2068927 | 2068927 | Human | | name |
| 405787834 | CV3329699 | single nucleotide variant | NM_017575.5(SMG6):c.3853G>A (p.Gly1285Ser) | not specified [RCV004459917] | uncertain significance | 17 | 2065662 | 2065662 | Human | | name |
| 405787838 | CV3329700 | single nucleotide variant | NM_017575.5(SMG6):c.3873G>C (p.Glu1291Asp) | not specified [RCV004459918] | uncertain significance | 17 | 2065642 | 2065642 | Human | | name |
| 405787842 | CV3329701 | single nucleotide variant | NM_017575.5(SMG6):c.3923G>A (p.Arg1308His) | not specified [RCV004459919] | uncertain significance | 17 | 2065592 | 2065592 | Human | | name |
| 405787846 | CV3329702 | single nucleotide variant | NM_017575.5(SMG6):c.4040G>A (p.Gly1347Asp) | not specified [RCV004459920] | uncertain significance | 17 | 2065475 | 2065475 | Human | | name |
| 405787855 | CV3329704 | single nucleotide variant | NM_017575.5(SMG6):c.4220G>A (p.Arg1407Gln) | not specified [RCV004459922] | uncertain significance | 17 | 2061532 | 2061532 | Human | | name |
| 405787860 | CV3329705 | single nucleotide variant | NM_017575.5(SMG6):c.4231G>C (p.Ala1411Pro) | not specified [RCV004459923] | uncertain significance | 17 | 2061521 | 2061521 | Human | | name |
| 405787865 | CV3329706 | single nucleotide variant | NM_017575.5(SMG6):c.4241C>T (p.Thr1414Met) | not specified [RCV004459924] | uncertain significance | 17 | 2061511 | 2061511 | Human | | name |
| 407495271 | CV3474379 | single nucleotide variant | NM_017575.5(SMG6):c.3530A>T (p.Asp1177Val) | not specified [RCV004667836] | uncertain significance | 17 | 2085729 | 2085729 | Human | | name |
| 407495288 | CV3474383 | single nucleotide variant | NM_017575.5(SMG6):c.3695A>G (p.Asp1232Gly) | not specified [RCV004667840] | uncertain significance | 17 | 2068918 | 2068918 | Human | | name |
| 407489421 | CV3474384 | single nucleotide variant | NM_017575.5(SMG6):c.4132G>A (p.Glu1378Lys) | not specified [RCV004684040] | uncertain significance | 17 | 2061620 | 2061620 | Human | | name |
| 407495292 | CV3474385 | single nucleotide variant | NM_017575.5(SMG6):c.3898G>A (p.Ala1300Thr) | not specified [RCV004667841] | uncertain significance | 17 | 2065617 | 2065617 | Human | | name |
| 407495305 | CV3474388 | single nucleotide variant | NM_017575.5(SMG6):c.3850G>A (p.Asp1284Asn) | not specified [RCV004667844] | uncertain significance | 17 | 2065665 | 2065665 | Human | | name |
| 407495322 | CV3474392 | single nucleotide variant | NM_017575.5(SMG6):c.3560T>C (p.Phe1187Ser) | not specified [RCV004667848] | uncertain significance | 17 | 2081931 | 2081931 | Human | | name |
| 597743785 | CV3597110 | single nucleotide variant | NM_017575.5(SMG6):c.3007G>A (p.Asp1003Asn) | not specified [RCV004865331] | uncertain significance | 17 | 2186811 | 2186811 | Human | | name |
| 597743790 | CV3597113 | single nucleotide variant | NM_017575.5(SMG6):c.3934G>A (p.Glu1312Lys) | not specified [RCV004865332] | uncertain significance | 17 | 2065581 | 2065581 | Human | | name |
| 597727046 | CV3597114 | single nucleotide variant | NM_017575.5(SMG6):c.3998A>G (p.Asn1333Ser) | not specified [RCV004862637] | uncertain significance | 17 | 2065517 | 2065517 | Human | | name |
| 597743808 | CV3597117 | single nucleotide variant | NM_017575.5(SMG6):c.3142G>C (p.Asp1048His) | not specified [RCV004865335] | uncertain significance | 17 | 2186676 | 2186676 | Human | | name |
| 597743823 | CV3597120 | single nucleotide variant | NM_017575.5(SMG6):c.3740T>C (p.Phe1247Ser) | not specified [RCV004865338] | uncertain significance | 17 | 2068873 | 2068873 | Human | | name |
| 597743830 | CV3597122 | single nucleotide variant | NM_017575.5(SMG6):c.3350C>T (p.Ser1117Leu) | not specified [RCV004865339] | uncertain significance | 17 | 2172665 | 2172665 | Human | | name |
| 597743840 | CV3597124 | single nucleotide variant | NM_017575.5(SMG6):c.3670G>C (p.Glu1224Gln) | not specified [RCV004865341] | uncertain significance | 17 | 2081821 | 2081821 | Human | | name |
| 597743846 | CV3597125 | single nucleotide variant | NM_017575.5(SMG6):c.3113A>T (p.Asp1038Val) | not specified [RCV004865342] | uncertain significance | 17 | 2186705 | 2186705 | Human | | name |
| 597727066 | CV3597126 | single nucleotide variant | NM_017575.5(SMG6):c.3110C>T (p.Pro1037Leu) | not specified [RCV004862639] | uncertain significance | 17 | 2186708 | 2186708 | Human | | name |
| 597727075 | CV3597127 | single nucleotide variant | NM_017575.5(SMG6):c.3361A>G (p.Ile1121Val) | not specified [RCV004862640] | uncertain significance | 17 | 2085898 | 2085898 | Human | | name |
| 597743875 | CV3597132 | single nucleotide variant | NM_017575.5(SMG6):c.3635T>A (p.Leu1212Gln) | not specified [RCV004865347] | uncertain significance | 17 | 2081856 | 2081856 | Human | | name |
| 598271948 | CV3915079 | single nucleotide variant | NM_017575.5(SMG6):c.4151G>A (p.Arg1384Gln) | not specified [RCV005282497] | uncertain significance | 17 | 2061601 | 2061601 | Human | | name |
| 598271982 | CV3915085 | single nucleotide variant | NM_017575.5(SMG6):c.3544G>T (p.Val1182Leu) | not specified [RCV005282503] | uncertain significance | 17 | 2081947 | 2081947 | Human | | name |
| 598272004 | CV3915090 | single nucleotide variant | NM_017575.5(SMG6):c.3283C>T (p.Arg1095Trp) | not specified [RCV005282507] | uncertain significance | 17 | 2172732 | 2172732 | Human | | name |
| 598272023 | CV3915094 | single nucleotide variant | NM_017575.5(SMG6):c.3168T>G (p.Asp1056Glu) | not specified [RCV005282511] | uncertain significance | 17 | 2172847 | 2172847 | Human | | name |
| 598272046 | CV3915098 | single nucleotide variant | NM_017575.5(SMG6):c.3545T>G (p.Val1182Gly) | not specified [RCV005282515] | uncertain significance | 17 | 2081946 | 2081946 | Human | | name |
| 598272050 | CV3915099 | single nucleotide variant | NM_017575.5(SMG6):c.3239A>G (p.Lys1080Arg) | not specified [RCV005282516] | uncertain significance | 17 | 2172776 | 2172776 | Human | | name |
| 598272060 | CV3915101 | single nucleotide variant | NM_017575.5(SMG6):c.3884G>A (p.Arg1295Gln) | not specified [RCV005282518] | uncertain significance | 17 | 2065631 | 2065631 | Human | | name |
| 15172046 | CV715295 | single nucleotide variant | NM_017575.5(SMG6):c.3565G>A (p.Glu1189Lys) | not provided [RCV000972322] | benign | 17 | 2081926 | 2081926 | Human | | name |
| 15196756 | CV771317 | single nucleotide variant | NM_017575.5(SMG6):c.3724G>A (p.Glu1242Lys) | not provided [RCV000934310] | benign | 17 | 2068889 | 2068889 | Human | | name |
| 596945089 | CV3544491 | duplication | NM_017575.5(SMG6):c.1753_1765dup (p.Asp589delinsAlaProGlyGlyTer) | Corpus callosum agenesis-abnormal genitalia syndrome [RCV004801973] | uncertain significance | 17 | 2298987 | 2298988 | Human | 1 | name |
