| 598198711 | CV4007214 | single nucleotide variant | NM_018303.6(EXOC2):c.1932+4A>C | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV005398044] | uncertain significance | 6 | 556480 | 556480 | Human | 1 | name |
| 408394098 | CV3526347 | single nucleotide variant | NM_018303.6(EXOC2):c.1443+10C>T | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV004771779] | uncertain significance | 6 | 572510 | 572510 | Human | 1 | name |
| 8581956 | CV116405 | single nucleotide variant | NM_018303.5(EXOC2):c.2381-509A>G | Lung cancer [RCV000096928] | uncertain significance | 6 | 500209 | 500209 | Human | | name |
| 8582013 | CV116465 | single nucleotide variant | NM_018303.5(EXOC2):c.1667+125G>A | Lung cancer [RCV000096988] | uncertain significance | 6 | 564420 | 564420 | Human | | name |
| 150340263 | CV1168088 | single nucleotide variant | NM_018303.6(EXOC2):c.-43-18694C>A | not provided [RCV001535173] | benign | 6 | 656555 | 656555 | Human | | name |
| 401918212 | CV2825662 | single nucleotide variant | NM_018303.6(EXOC2):c.24C>G (p.Pro8=) | not provided [RCV003430066] | likely benign | 6 | 637795 | 637795 | Human | | name |
| 401918211 | CV2825661 | single nucleotide variant | NM_018303.6(EXOC2):c.33C>T (p.Thr11=) | not provided [RCV003430065] | likely benign | 6 | 637786 | 637786 | Human | | name |
| 152103106 | CV1667383 | single nucleotide variant | NM_018303.6(EXOC2):c.639C>T (p.Phe213=) | not provided [RCV002214370] | likely benign | 6 | 617733 | 617733 | Human | | name |
| 152103112 | CV1667384 | single nucleotide variant | NM_018303.6(EXOC2):c.459C>T (p.Phe153=) | not provided [RCV002214371] | likely benign | 6 | 619507 | 619507 | Human | | name |
| 401918355 | CV2825660 | single nucleotide variant | NM_018303.6(EXOC2):c.942G>A (p.Gly314=) | not provided [RCV003430064] | likely benign | 6 | 598888 | 598888 | Human | | name |
| 15197044 | CV699639 | single nucleotide variant | NM_018303.6(EXOC2):c.999A>G (p.Glu333=) | not provided [RCV000956357] | benign | 6 | 598095 | 598095 | Human | | name |
| 401918208 | CV2825656 | single nucleotide variant | NM_018303.6(EXOC2):c.2727G>A (p.Leu909=) | not provided [RCV003430062] | likely benign | 6 | 486719 | 486719 | Human | | name |
| 401918209 | CV2825657 | single nucleotide variant | NM_018303.6(EXOC2):c.2448T>C (p.Ile816=) | not provided [RCV003430063] | likely benign | 6 | 497478 | 497478 | Human | | name |
| 401915654 | CV2825658 | single nucleotide variant | NM_018303.6(EXOC2):c.1632C>T (p.Ser544=) | not provided [RCV003428749] | uncertain significance | 6 | 564580 | 564580 | Human | | name |
| 401915651 | CV2825659 | single nucleotide variant | NM_018303.6(EXOC2):c.1374C>T (p.Leu458=) | not provided [RCV003428750] | likely benign | 6 | 572589 | 572589 | Human | | name |
| 407499904 | CV3438570 | single nucleotide variant | NM_018303.6(EXOC2):c.152C>T (p.Thr51Met) | not specified [RCV004622889] | uncertain significance | 6 | 633084 | 633084 | Human | | name |
| 15172521 | CV710552 | single nucleotide variant | NM_018303.6(EXOC2):c.2409G>T (p.Leu803=) | not provided [RCV000972421] | benign | 6 | 499672 | 499672 | Human | | name |
| 15151544 | CV735712 | single nucleotide variant | NM_018303.6(EXOC2):c.1554C>T (p.Arg518=) | not provided [RCV000901385] | benign | 6 | 564658 | 564658 | Human | | name |
| 127261497 | CV1065563 | single nucleotide variant | NM_018303.6(EXOC2):c.389G>A (p.Arg130His) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV001387536] | pathogenic|no classifications from unflagged records | 6 | 629868 | 629868 | Human | 1 | name |
| 156019317 | CV2229989 | single nucleotide variant | NM_018303.6(EXOC2):c.587A>G (p.Lys196Arg) | not specified [RCV004105797] | uncertain significance | 6 | 617785 | 617785 | Human | | name |
| 329356089 | CV2430574 | single nucleotide variant | NM_018303.6(EXOC2):c.716C>T (p.Thr239Met) | not specified [RCV004252153] | uncertain significance | 6 | 610124 | 610124 | Human | | name |
| 401726422 | CV2695677 | single nucleotide variant | NM_018303.6(EXOC2):c.934C>G (p.Leu312Val) | not specified [RCV004299486] | uncertain significance | 6 | 598896 | 598896 | Human | | name |
| 405773252 | CV3252537 | single nucleotide variant | NM_018303.6(EXOC2):c.397A>C (p.Asn133His) | not specified [RCV004385421] | uncertain significance | 6 | 629860 | 629860 | Human | | name |
| 405773246 | CV3252538 | single nucleotide variant | NM_018303.6(EXOC2):c.434C>T (p.Ser145Leu) | not specified [RCV004385422] | uncertain significance | 6 | 619532 | 619532 | Human | | name |
| 405773241 | CV3252539 | single nucleotide variant | NM_018303.6(EXOC2):c.700G>A (p.Val234Ile) | not specified [RCV004385423] | uncertain significance | 6 | 610140 | 610140 | Human | | name |
| 407499915 | CV3438573 | single nucleotide variant | NM_018303.6(EXOC2):c.533C>A (p.Thr178Asn) | not specified [RCV004622892] | uncertain significance | 6 | 619433 | 619433 | Human | | name |
| 407499918 | CV3438574 | single nucleotide variant | NM_018303.6(EXOC2):c.893A>G (p.Asp298Gly) | not specified [RCV004622893] | uncertain significance | 6 | 598937 | 598937 | Human | | name |
| 597714953 | CV3675117 | single nucleotide variant | NM_018303.6(EXOC2):c.668A>C (p.His223Pro) | not specified [RCV004918177] | uncertain significance | 6 | 610172 | 610172 | Human | | name |
| 597715007 | CV3675122 | single nucleotide variant | NM_018303.6(EXOC2):c.341A>G (p.Tyr114Cys) | not specified [RCV004918182] | uncertain significance | 6 | 629916 | 629916 | Human | | name |
| 597715028 | CV3675124 | single nucleotide variant | NM_018303.6(EXOC2):c.896A>G (p.Tyr299Cys) | not specified [RCV004918184] | uncertain significance | 6 | 598934 | 598934 | Human | | name |
| 597715038 | CV3675125 | single nucleotide variant | NM_018303.6(EXOC2):c.824A>G (p.Asn275Ser) | not specified [RCV004918185] | uncertain significance | 6 | 599144 | 599144 | Human | | name |
| 597715049 | CV3675126 | single nucleotide variant | NM_018303.6(EXOC2):c.417T>G (p.Ile139Met) | not specified [RCV004918186] | uncertain significance | 6 | 629840 | 629840 | Human | | name |
| 598210386 | CV3954761 | single nucleotide variant | NM_018303.6(EXOC2):c.743G>A (p.Arg248Lys) | not specified [RCV005338741] | uncertain significance | 6 | 599225 | 599225 | Human | | name |
| 598210392 | CV3954762 | single nucleotide variant | NM_018303.6(EXOC2):c.722A>T (p.Lys241Ile) | not specified [RCV005338742] | uncertain significance | 6 | 610118 | 610118 | Human | | name |
| 598210406 | CV3954764 | single nucleotide variant | NM_018303.6(EXOC2):c.682G>A (p.Ala228Thr) | not specified [RCV005338744] | uncertain significance | 6 | 610158 | 610158 | Human | | name |
| 598210428 | CV3954768 | single nucleotide variant | NM_018303.6(EXOC2):c.823A>T (p.Asn275Tyr) | not specified [RCV005338747] | uncertain significance | 6 | 599145 | 599145 | Human | | name |
| 127261496 | CV1065562 | single nucleotide variant | NM_018303.6(EXOC2):c.1309C>T (p.Arg437Ter) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV001387535] | pathogenic|no classifications from unflagged records | 6 | 576766 | 576766 | Human | 1 | name |
| 127261499 | CV1065564 | single nucleotide variant | NM_018303.6(EXOC2):c.1739T>C (p.Leu580Ser) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV001387537] | pathogenic | 6 | 564083 | 564083 | Human | 1 | name |
| 9687031 | CV171424 | single nucleotide variant | NM_018303.6(EXOC2):c.1241G>A (p.Arg414His) | Prostate cancer [RCV000149250]|not provided [RCV004691769] | uncertain significance | 6 | 576834 | 576834 | Human | 2 | name |
| 156397346 | CV2200333 | single nucleotide variant | NM_018303.6(EXOC2):c.2771C>T (p.Thr924Ile) | not specified [RCV004076665] | uncertain significance | 6 | 486675 | 486675 | Human | | name |
| 156113008 | CV2228610 | single nucleotide variant | NM_018303.6(EXOC2):c.1990C>A (p.Gln664Lys) | not specified [RCV004092838] | uncertain significance | 6 | 555956 | 555956 | Human | | name |
| 155994455 | CV2249189 | single nucleotide variant | NM_018303.6(EXOC2):c.2338T>A (p.Tyr780Asn) | not specified [RCV004118236] | uncertain significance | 6 | 532511 | 532511 | Human | | name |
| 156039226 | CV2261192 | single nucleotide variant | NM_018303.6(EXOC2):c.1989G>A (p.Met663Ile) | not specified [RCV004128077] | uncertain significance | 6 | 555957 | 555957 | Human | | name |
| 155965589 | CV2261813 | single nucleotide variant | NM_018303.6(EXOC2):c.1274C>T (p.Ala425Val) | not specified [RCV004126088] | uncertain significance | 6 | 576801 | 576801 | Human | | name |
| 155929435 | CV2278111 | single nucleotide variant | NM_018303.6(EXOC2):c.1832A>G (p.Asn611Ser) | not specified [RCV004141322] | uncertain significance | 6 | 562803 | 562803 | Human | | name |
| 155967153 | CV2280264 | single nucleotide variant | NM_018303.6(EXOC2):c.1743T>A (p.Asp581Glu) | not specified [RCV004140469] | uncertain significance | 6 | 564079 | 564079 | Human | | name |
| 156185420 | CV2292320 | single nucleotide variant | NM_018303.6(EXOC2):c.1750G>A (p.Val584Ile) | not specified [RCV004150137] | uncertain significance | 6 | 564072 | 564072 | Human | | name |
| 156037353 | CV2313487 | single nucleotide variant | NM_018303.6(EXOC2):c.2167C>T (p.Arg723Cys) | not specified [RCV004163793] | uncertain significance | 6 | 549246 | 549246 | Human | | name |
| 156169951 | CV2317110 | single nucleotide variant | NM_018303.6(EXOC2):c.2176T>G (p.Phe726Val) | not specified [RCV004174590] | uncertain significance | 6 | 549237 | 549237 | Human | | name |
| 155980051 | CV2336866 | single nucleotide variant | NM_018303.6(EXOC2):c.1603G>A (p.Gly535Arg) | not specified [RCV004190485] | uncertain significance | 6 | 564609 | 564609 | Human | | name |
| 156242509 | CV2347004 | single nucleotide variant | NM_018303.6(EXOC2):c.1237A>G (p.Thr413Ala) | not specified [RCV004204493] | uncertain significance | 6 | 576838 | 576838 | Human | | name |
| 155922808 | CV2347385 | single nucleotide variant | NM_018303.6(EXOC2):c.1624G>A (p.Glu542Lys) | not specified [RCV004207225] | uncertain significance | 6 | 564588 | 564588 | Human | | name |
| 156084895 | CV2366117 | single nucleotide variant | NM_018303.6(EXOC2):c.2214C>G (p.Phe738Leu) | not specified [RCV004210151] | uncertain significance | 6 | 549199 | 549199 | Human | | name |
| 155935495 | CV2371810 | single nucleotide variant | NM_018303.6(EXOC2):c.1319C>T (p.Thr440Met) | not specified [RCV004219467] | uncertain significance | 6 | 572644 | 572644 | Human | | name |
| 156345106 | CV2372869 | single nucleotide variant | NM_018303.6(EXOC2):c.1876G>A (p.Val626Met) | not specified [RCV004223918] | uncertain significance | 6 | 556540 | 556540 | Human | | name |
| 156390096 | CV2375902 | single nucleotide variant | NM_018303.6(EXOC2):c.2236C>A (p.Gln746Lys) | not specified [RCV004217743] | uncertain significance | 6 | 549177 | 549177 | Human | | name |
| 155930065 | CV2389301 | single nucleotide variant | NM_018303.6(EXOC2):c.1645G>A (p.Ala549Thr) | not specified [RCV004235614] | uncertain significance | 6 | 564567 | 564567 | Human | | name |
| 329377309 | CV2435878 | single nucleotide variant | NM_018303.6(EXOC2):c.1753C>T (p.Arg585Cys) | not specified [RCV004255111] | uncertain significance | 6 | 564069 | 564069 | Human | | name |
| 329387637 | CV2446739 | single nucleotide variant | NM_018303.6(EXOC2):c.2173A>G (p.Thr725Ala) | not specified [RCV004257613] | uncertain significance | 6 | 549240 | 549240 | Human | | name |
| 329358833 | CV2450731 | single nucleotide variant | NM_018303.6(EXOC2):c.1222G>A (p.Asp408Asn) | not specified [RCV004267671] | uncertain significance | 6 | 576853 | 576853 | Human | | name |
| 329377925 | CV2460863 | single nucleotide variant | NM_018303.6(EXOC2):c.1009G>A (p.Glu337Lys) | not specified [RCV004271169] | uncertain significance | 6 | 598085 | 598085 | Human | | name |
| 401722423 | CV2676979 | single nucleotide variant | NM_018303.6(EXOC2):c.1302G>T (p.Gln434His) | not specified [RCV004293581] | uncertain significance | 6 | 576773 | 576773 | Human | | name |
| 401767425 | CV2681659 | single nucleotide variant | NM_018303.6(EXOC2):c.2026A>G (p.Lys676Glu) | not specified [RCV004294214] | uncertain significance | 6 | 555255 | 555255 | Human | | name |
| 401776516 | CV2703259 | single nucleotide variant | NM_018303.6(EXOC2):c.1175A>G (p.Tyr392Cys) | not specified [RCV004315625] | uncertain significance | 6 | 592486 | 592486 | Human | | name |
| 401763245 | CV2720247 | single nucleotide variant | NM_018303.6(EXOC2):c.1756T>A (p.Cys586Ser) | not specified [RCV004325580] | uncertain significance | 6 | 564066 | 564066 | Human | | name |
| 401763778 | CV2725294 | single nucleotide variant | NM_018303.6(EXOC2):c.1327T>C (p.Tyr443His) | not specified [RCV004319959] | uncertain significance | 6 | 572636 | 572636 | Human | | name |
| 401886754 | CV2767898 | single nucleotide variant | NM_018303.6(EXOC2):c.1532A>T (p.His511Leu) | not specified [RCV004348153] | uncertain significance | 6 | 564680 | 564680 | Human | | name |
| 401936609 | CV2798557 | single nucleotide variant | NM_018303.6(EXOC2):c.2188G>A (p.Ala730Thr) | EXOC2-related disorder [RCV003414487]|not specified [RCV004621778] | uncertain significance | 6 | 549225 | 549225 | Human | 1 | name , trait , alternate_id |
| 405772769 | CV3252529 | single nucleotide variant | NM_018303.6(EXOC2):c.1726C>A (p.Gln576Lys) | not specified [RCV004385413] | uncertain significance | 6 | 564096 | 564096 | Human | | name |
| 405772775 | CV3252530 | single nucleotide variant | NM_018303.6(EXOC2):c.1882T>G (p.Ser628Ala) | not specified [RCV004385414] | uncertain significance | 6 | 556534 | 556534 | Human | | name |
| 405772781 | CV3252531 | single nucleotide variant | NM_018303.6(EXOC2):c.2042T>C (p.Ile681Thr) | not specified [RCV004385415] | uncertain significance | 6 | 555239 | 555239 | Human | | name |
| 405772788 | CV3252532 | single nucleotide variant | NM_018303.6(EXOC2):c.2168G>A (p.Arg723His) | not specified [RCV004385416] | uncertain significance | 6 | 549245 | 549245 | Human | | name |
| 405772798 | CV3252534 | single nucleotide variant | NM_018303.6(EXOC2):c.2333G>A (p.Gly778Glu) | not specified [RCV004385418] | uncertain significance | 6 | 532516 | 532516 | Human | | name |
| 405773264 | CV3252535 | single nucleotide variant | NM_018303.6(EXOC2):c.2431G>A (p.Ala811Thr) | not specified [RCV004385419] | uncertain significance | 6 | 499650 | 499650 | Human | | name |
| 405773258 | CV3252536 | single nucleotide variant | NM_018303.6(EXOC2):c.2471T>C (p.Val824Ala) | not specified [RCV004385420] | uncertain significance | 6 | 497455 | 497455 | Human | | name |
| 407499893 | CV3438567 | single nucleotide variant | NM_018303.6(EXOC2):c.1553G>A (p.Arg518His) | not specified [RCV004622886] | uncertain significance | 6 | 564659 | 564659 | Human | | name |
| 407499900 | CV3438569 | single nucleotide variant | NM_018303.6(EXOC2):c.2551G>A (p.Ala851Thr) | not specified [RCV004622888] | uncertain significance | 6 | 497375 | 497375 | Human | | name |
| 407499908 | CV3438571 | single nucleotide variant | NM_018303.6(EXOC2):c.1706A>G (p.Asn569Ser) | not specified [RCV004622890] | uncertain significance | 6 | 564116 | 564116 | Human | | name |
| 407499911 | CV3438572 | single nucleotide variant | NM_018303.6(EXOC2):c.2093G>A (p.Ser698Asn) | not specified [RCV004622891] | uncertain significance | 6 | 553882 | 553882 | Human | | name |
| 408394096 | CV3526346 | single nucleotide variant | NM_018303.6(EXOC2):c.1049T>C (p.Leu350Ser) | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV004771778] | uncertain significance | 6 | 598045 | 598045 | Human | 1 | name |
| 597714916 | CV3675113 | single nucleotide variant | NM_018303.6(EXOC2):c.2676T>G (p.Asp892Glu) | not specified [RCV004918173] | uncertain significance | 6 | 488984 | 488984 | Human | | name |
| 597714925 | CV3675114 | single nucleotide variant | NM_018303.6(EXOC2):c.2468G>A (p.Arg823Gln) | not specified [RCV004918174] | uncertain significance | 6 | 497458 | 497458 | Human | | name |
| 597714933 | CV3675115 | single nucleotide variant | NM_018303.6(EXOC2):c.1673C>A (p.Thr558Asn) | not specified [RCV004918175] | uncertain significance | 6 | 564149 | 564149 | Human | | name |
| 597714942 | CV3675116 | single nucleotide variant | NM_018303.6(EXOC2):c.1091A>G (p.His364Arg) | not specified [RCV004918176] | uncertain significance | 6 | 592570 | 592570 | Human | | name |
| 597714963 | CV3675118 | single nucleotide variant | NM_018303.6(EXOC2):c.2260G>C (p.Glu754Gln) | not specified [RCV004918178] | uncertain significance | 6 | 532589 | 532589 | Human | | name |
| 597714974 | CV3675119 | single nucleotide variant | NM_018303.6(EXOC2):c.2749G>A (p.Ala917Thr) | not specified [RCV004918179] | uncertain significance | 6 | 486697 | 486697 | Human | | name |
| 597714985 | CV3675120 | single nucleotide variant | NM_018303.6(EXOC2):c.2363A>G (p.Asp788Gly) | not specified [RCV004918180] | uncertain significance | 6 | 532486 | 532486 | Human | | name |
| 597714996 | CV3675121 | single nucleotide variant | NM_018303.6(EXOC2):c.2107T>C (p.Phe703Leu) | not specified [RCV004918181] | uncertain significance | 6 | 553868 | 553868 | Human | | name |
| 598126513 | CV3881962 | single nucleotide variant | NM_018303.6(EXOC2):c.1205T>G (p.Leu402Arg) | not provided [RCV005233514] | uncertain significance | 6 | 576870 | 576870 | Human | | name |
| 598210367 | CV3954758 | single nucleotide variant | NM_018303.6(EXOC2):c.1050A>C (p.Leu350Phe) | not specified [RCV005338738] | uncertain significance | 6 | 598044 | 598044 | Human | | name |
| 598210374 | CV3954759 | single nucleotide variant | NM_018303.6(EXOC2):c.1982A>G (p.Asn661Ser) | not specified [RCV005338739] | uncertain significance | 6 | 555964 | 555964 | Human | | name |
| 598210400 | CV3954763 | single nucleotide variant | NM_018303.6(EXOC2):c.1763T>C (p.Met588Thr) | not specified [RCV005338743] | uncertain significance | 6 | 564059 | 564059 | Human | | name |
| 598210415 | CV3954765 | single nucleotide variant | NM_018303.6(EXOC2):c.1091A>C (p.His364Pro) | not specified [RCV005338745] | uncertain significance | 6 | 592570 | 592570 | Human | | name |
| 598210422 | CV3954766 | single nucleotide variant | NM_018303.6(EXOC2):c.1352T>G (p.Phe451Cys) | not specified [RCV005338746] | uncertain significance | 6 | 572611 | 572611 | Human | | name |
| 598194667 | CV3954767 | single nucleotide variant | NM_018303.6(EXOC2):c.1651G>A (p.Ala551Thr) | not specified [RCV005335436] | uncertain significance | 6 | 564561 | 564561 | Human | | name |
| 598210435 | CV3954769 | single nucleotide variant | NM_018303.6(EXOC2):c.1264A>T (p.Ser422Cys) | not specified [RCV005338748] | uncertain significance | 6 | 576811 | 576811 | Human | | name |
| 15176342 | CV722081 | single nucleotide variant | NM_018303.6(EXOC2):c.1759G>A (p.Val587Ile) | not provided [RCV000884562] | benign | 6 | 564063 | 564063 | Human | | name |
| 153301068 | CV1688911 | deletion | NM_018303.6(EXOC2):c.-43-18972_-43-18956del | Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia [RCV002266639] | uncertain significance | 6 | 656817 | 656833 | Human | 1 | name |