| 152139164 | CV1549649 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1270-7A>G | not provided [RCV002156537] | benign | 19 | 45228273 | 45228273 | Human | | name |
| 152104519 | CV1622652 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1372-7C>G | not provided [RCV002214623] | benign | 19 | 45228081 | 45228081 | Human | | name |
| 155946322 | CV2139468 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1372-7C>T | not provided [RCV002994364] | benign | 19 | 45228081 | 45228081 | Human | | name |
| 152116839 | CV1535116 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1999-11C>G | not provided [RCV002097605] | benign | 19 | 45216205 | 45216205 | Human | | name |
| 152122453 | CV1631927 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1720-19C>T | not provided [RCV002118021] | benign | 19 | 45218338 | 45218338 | Human | | name |
| 152126188 | CV1665891 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1372-16G>A | not provided [RCV002198704] | benign | 19 | 45228090 | 45228090 | Human | | name |
| 156141003 | CV2002747 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1583+18G>A | not provided [RCV002663568] | likely benign | 19 | 45227644 | 45227644 | Human | | name |
| 156402077 | CV2010031 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1270-15C>T | not provided [RCV002726093] | likely benign | 19 | 45228281 | 45228281 | Human | | name |
| 156022672 | CV2111156 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1720-15C>T | not provided [RCV002909688] | likely benign | 19 | 45218334 | 45218334 | Human | | name |
| 405127326 | CV2958493 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1998+10G>A | not provided [RCV003667983] | likely benign | 19 | 45217518 | 45217518 | Human | | name |
| 405156647 | CV3028106 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1998+17G>C | not provided [RCV003703597] | likely benign | 19 | 45217511 | 45217511 | Human | | name |
| 405181430 | CV3147495 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1999-20G>A | not provided [RCV003842397] | likely benign | 19 | 45216214 | 45216214 | Human | | name |
| 407574384 | CV3499388 | single nucleotide variant | EXOC3L2, LEU41GLN | Brain malformation renal syndrome [RCV004719029] | pathogenic | | | | Human | 1 | name |
| 407574385 | CV3499389 | single nucleotide variant | EXOC3L2, ARG72TER | Brain malformation renal syndrome [RCV004719030] | pathogenic | | | | Human | 1 | name |
| 155995475 | CV2109278 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2265C>A (p.Asp755Glu) | EXOC3L2-related disorder [RCV003916639]|not provided [RCV002947537] | likely benign | 19 | 45213213 | 45213213 | Human | 1 | name , trait , alternate_id |
| 407574386 | CV3499391 | deletion | EXOC3L2, EX3-5DEL (SCV001519072) | Brain malformation renal syndrome [RCV004719031] | pathogenic | | | | Human | 1 | name |
| 401911724 | CV2808026 | single nucleotide variant | NM_178516.4(EXOC3L1):c.510G>A (p.Glu170=) | not provided [RCV003426739] | likely benign | 16 | 67187755 | 67187755 | Human | | name |
| 598210496 | CV3954778 | single nucleotide variant | NM_178516.4(EXOC3L1):c.29A>C (p.Gln10Pro) | not specified [RCV005338757] | uncertain significance | 16 | 67189648 | 67189648 | Human | | name |
| 598210541 | CV3954785 | single nucleotide variant | NM_178516.4(EXOC3L1):c.81G>C (p.Gln27His) | not specified [RCV005338764] | uncertain significance | 16 | 67189146 | 67189146 | Human | | name |
| 8627852 | CV82996 | single nucleotide variant | NM_178516.3(EXOC3L1):c.561C>T (p.Val187=) | Malignant melanoma [RCV000063076] | not provided | 16 | 67187704 | 67187704 | Human | | name |
| 156235709 | CV2193419 | single nucleotide variant | NM_178516.4(EXOC3L1):c.179G>A (p.Arg60His) | not specified [RCV004072915] | uncertain significance | 16 | 67189048 | 67189048 | Human | | name |
| 156113306 | CV2261331 | single nucleotide variant | NM_178516.4(EXOC3L1):c.218A>T (p.Gln73Leu) | not specified [RCV004129980] | uncertain significance | 16 | 67188930 | 67188930 | Human | | name |
| 155964537 | CV2282853 | single nucleotide variant | NM_178516.4(EXOC3L1):c.290G>A (p.Arg97Gln) | not specified [RCV004143509] | uncertain significance | 16 | 67188858 | 67188858 | Human | | name |
| 156111181 | CV2387759 | single nucleotide variant | NM_178516.4(EXOC3L1):c.118A>G (p.Ile40Val) | not specified [RCV004234289] | uncertain significance | 16 | 67189109 | 67189109 | Human | | name |
| 401758702 | CV2694234 | single nucleotide variant | NM_178516.4(EXOC3L1):c.199C>T (p.Arg67Cys) | not specified [RCV004302651] | uncertain significance | 16 | 67189028 | 67189028 | Human | | name |
| 401916576 | CV2808027 | single nucleotide variant | NM_178516.4(EXOC3L1):c.223T>A (p.Tyr75Asn) | not provided [RCV003429127] | likely benign | 16 | 67188925 | 67188925 | Human | | name |
| 405772884 | CV3252572 | single nucleotide variant | NM_178516.4(EXOC3L1):c.197C>T (p.Ser66Leu) | not specified [RCV004385456] | uncertain significance | 16 | 67189030 | 67189030 | Human | | name |
| 405772892 | CV3252573 | single nucleotide variant | NM_178516.4(EXOC3L1):c.289C>T (p.Arg97Trp) | not specified [RCV004385457] | uncertain significance | 16 | 67188859 | 67188859 | Human | | name |
| 407499952 | CV3438583 | single nucleotide variant | NM_178516.4(EXOC3L1):c.148C>G (p.Leu50Val) | not specified [RCV004622902] | uncertain significance | 16 | 67189079 | 67189079 | Human | | name |
| 407500414 | CV3438585 | single nucleotide variant | NM_178516.4(EXOC3L1):c.166C>A (p.Arg56Ser) | not specified [RCV004622904] | uncertain significance | 16 | 67189061 | 67189061 | Human | | name |
| 597715160 | CV3675137 | single nucleotide variant | NM_178516.4(EXOC3L1):c.178C>T (p.Arg60Cys) | not specified [RCV004918197] | uncertain significance | 16 | 67189049 | 67189049 | Human | | name |
| 597715170 | CV3675138 | single nucleotide variant | NM_178516.4(EXOC3L1):c.226C>A (p.Leu76Met) | not specified [RCV004918198] | uncertain significance | 16 | 67188922 | 67188922 | Human | | name |
| 597715181 | CV3675139 | single nucleotide variant | NM_178516.4(EXOC3L1):c.169G>A (p.Glu57Lys) | not specified [RCV004918199] | uncertain significance | 16 | 67189058 | 67189058 | Human | | name |
| 597715191 | CV3675140 | single nucleotide variant | NM_178516.4(EXOC3L1):c.259G>T (p.Ala87Ser) | not specified [RCV004918200] | uncertain significance | 16 | 67188889 | 67188889 | Human | | name |
| 597715243 | CV3675145 | single nucleotide variant | NM_178516.4(EXOC3L1):c.184T>C (p.Cys62Arg) | not specified [RCV004918205] | uncertain significance | 16 | 67189043 | 67189043 | Human | | name |
| 8627853 | CV82997 | single nucleotide variant | NM_178516.3(EXOC3L1):c.284G>A (p.Gly95Glu) | Malignant melanoma [RCV000063077] | not provided | 16 | 67188864 | 67188864 | Human | | name |
| 156397734 | CV2197498 | single nucleotide variant | NM_178516.4(EXOC3L1):c.641G>A (p.Arg214Gln) | not specified [RCV004081226] | uncertain significance | 16 | 67187624 | 67187624 | Human | | name |
| 155980386 | CV2223023 | single nucleotide variant | NM_178516.4(EXOC3L1):c.937C>T (p.His313Tyr) | not specified [RCV004103608] | uncertain significance | 16 | 67187328 | 67187328 | Human | | name |
| 156197858 | CV2237345 | single nucleotide variant | NM_178516.4(EXOC3L1):c.475T>C (p.Phe159Leu) | not specified [RCV004104540] | likely benign | 16 | 67187790 | 67187790 | Human | | name |
| 155985127 | CV2270654 | single nucleotide variant | NM_178516.4(EXOC3L1):c.520G>A (p.Glu174Lys) | not specified [RCV004137868] | uncertain significance | 16 | 67187745 | 67187745 | Human | | name |
| 156203457 | CV2313310 | single nucleotide variant | NM_178516.4(EXOC3L1):c.461T>C (p.Ile154Thr) | not specified [RCV004161552] | uncertain significance | 16 | 67187804 | 67187804 | Human | | name |
| 329378148 | CV2450129 | single nucleotide variant | NM_178516.4(EXOC3L1):c.853G>A (p.Val285Ile) | not specified [RCV004270954] | uncertain significance | 16 | 67187412 | 67187412 | Human | | name |
| 401733380 | CV2691285 | single nucleotide variant | NM_178516.4(EXOC3L1):c.508G>A (p.Glu170Lys) | not specified [RCV004303045] | uncertain significance | 16 | 67187757 | 67187757 | Human | | name |
| 401772773 | CV2712899 | single nucleotide variant | NM_178516.4(EXOC3L1):c.323A>C (p.Gln108Pro) | not specified [RCV004314302] | uncertain significance | 16 | 67188825 | 67188825 | Human | | name |
| 401870146 | CV2772631 | single nucleotide variant | NM_178516.4(EXOC3L1):c.415C>T (p.Arg139Trp) | not specified [RCV004355379] | uncertain significance | 16 | 67188733 | 67188733 | Human | | name |
| 405772897 | CV3252574 | single nucleotide variant | NM_178516.4(EXOC3L1):c.367C>G (p.Arg123Gly) | not specified [RCV004385458] | uncertain significance | 16 | 67188781 | 67188781 | Human | | name |
| 405772901 | CV3252575 | single nucleotide variant | NM_178516.4(EXOC3L1):c.383A>G (p.Lys128Arg) | not specified [RCV004385459] | uncertain significance | 16 | 67188765 | 67188765 | Human | | name |
| 405772907 | CV3252576 | single nucleotide variant | NM_178516.4(EXOC3L1):c.431C>T (p.Pro144Leu) | not specified [RCV004385460] | uncertain significance | 16 | 67187834 | 67187834 | Human | | name |
| 405772914 | CV3252577 | single nucleotide variant | NM_178516.4(EXOC3L1):c.445C>G (p.His149Asp) | not specified [RCV004385461] | uncertain significance | 16 | 67187820 | 67187820 | Human | | name |
| 405772921 | CV3252578 | single nucleotide variant | NM_178516.4(EXOC3L1):c.587A>G (p.Glu196Gly) | not specified [RCV004385462] | uncertain significance | 16 | 67187678 | 67187678 | Human | | name |
| 405772928 | CV3252579 | single nucleotide variant | NM_178516.4(EXOC3L1):c.601G>T (p.Ala201Ser) | not specified [RCV004385463] | uncertain significance | 16 | 67187664 | 67187664 | Human | | name |
| 405772934 | CV3252580 | single nucleotide variant | NM_178516.4(EXOC3L1):c.698G>A (p.Arg233Gln) | not specified [RCV004385464] | uncertain significance | 16 | 67187567 | 67187567 | Human | | name |
| 405772941 | CV3252581 | single nucleotide variant | NM_178516.4(EXOC3L1):c.751G>A (p.Ala251Thr) | not specified [RCV004385465] | uncertain significance | 16 | 67187514 | 67187514 | Human | | name |
| 405773269 | CV3252582 | single nucleotide variant | NM_178516.4(EXOC3L1):c.799C>T (p.Pro267Ser) | not specified [RCV004385466] | uncertain significance | 16 | 67187466 | 67187466 | Human | | name |
| 405772949 | CV3252583 | single nucleotide variant | NM_178516.4(EXOC3L1):c.827T>C (p.Leu276Pro) | not specified [RCV004385467] | uncertain significance | 16 | 67187438 | 67187438 | Human | | name |
| 407499956 | CV3438584 | single nucleotide variant | NM_178516.4(EXOC3L1):c.680C>T (p.Ala227Val) | not specified [RCV004622903] | uncertain significance | 16 | 67187585 | 67187585 | Human | | name |
| 597715222 | CV3675143 | single nucleotide variant | NM_178516.4(EXOC3L1):c.694G>A (p.Gly232Arg) | not specified [RCV004918203] | uncertain significance | 16 | 67187571 | 67187571 | Human | | name |
| 597715232 | CV3675144 | single nucleotide variant | NM_178516.4(EXOC3L1):c.421C>G (p.Arg141Gly) | not specified [RCV004918204] | uncertain significance | 16 | 67188727 | 67188727 | Human | | name |
| 597715329 | CV3675153 | single nucleotide variant | NM_178516.4(EXOC3L1):c.791C>T (p.Pro264Leu) | not specified [RCV004918213] | uncertain significance | 16 | 67187474 | 67187474 | Human | | name |
| 598210509 | CV3954780 | single nucleotide variant | NM_178516.4(EXOC3L1):c.841G>C (p.Val281Leu) | not specified [RCV005338759] | uncertain significance | 16 | 67187424 | 67187424 | Human | | name |
| 598210515 | CV3954781 | single nucleotide variant | NM_178516.4(EXOC3L1):c.310C>T (p.Arg104Cys) | not specified [RCV005338760] | uncertain significance | 16 | 67188838 | 67188838 | Human | | name |
| 598210534 | CV3954784 | single nucleotide variant | NM_178516.4(EXOC3L1):c.821G>C (p.Gly274Ala) | not specified [RCV005338763] | uncertain significance | 16 | 67187444 | 67187444 | Human | | name |
| 598210548 | CV3954786 | single nucleotide variant | NM_178516.4(EXOC3L1):c.760G>A (p.Glu254Lys) | not specified [RCV005338765] | uncertain significance | 16 | 67187505 | 67187505 | Human | | name |
| 598210567 | CV3954789 | single nucleotide variant | NM_178516.4(EXOC3L1):c.425C>A (p.Ala142Glu) | not specified [RCV005338768] | uncertain significance | 16 | 67188723 | 67188723 | Human | | name |
| 598210574 | CV3954790 | single nucleotide variant | NM_178516.4(EXOC3L1):c.490G>A (p.Val164Met) | not specified [RCV005338769] | likely benign | 16 | 67187775 | 67187775 | Human | | name |
| 598210581 | CV3954791 | single nucleotide variant | NM_178516.4(EXOC3L1):c.326G>A (p.Gly109Asp) | not specified [RCV005338770] | likely benign | 16 | 67188822 | 67188822 | Human | | name |
| 150459827 | CV1268397 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.687C>G (p.Pro229=) | not provided [RCV001693394] | benign | 14 | 103102410 | 103102410 | Human | | name |
| 156369538 | CV2194010 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1646C>T (p.Pro549Leu) | not specified [RCV004076776] | uncertain significance | 16 | 67185239 | 67185239 | Human | | name |
| 156398442 | CV2200800 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1205C>G (p.Ala402Gly) | not specified [RCV004081436] | uncertain significance | 16 | 67186838 | 67186838 | Human | | name |
| 156398473 | CV2200824 | single nucleotide variant | NM_178516.4(EXOC3L1):c.2068G>T (p.Asp690Tyr) | not specified [RCV004081454] | uncertain significance | 16 | 67184567 | 67184567 | Human | | name |
| 156068578 | CV2203692 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1837G>A (p.Glu613Lys) | not specified [RCV004074343] | uncertain significance | 16 | 67184970 | 67184970 | Human | | name |
| 156379160 | CV2207897 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1304G>A (p.Arg435His) | not specified [RCV004084323] | uncertain significance | 16 | 67186638 | 67186638 | Human | | name |
| 156400786 | CV2217175 | single nucleotide variant | NM_178516.4(EXOC3L1):c.2161C>G (p.Leu721Val) | not specified [RCV004087632] | uncertain significance | 16 | 67184474 | 67184474 | Human | | name |
| 156018194 | CV2263131 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1000G>C (p.Ala334Pro) | not specified [RCV004131372] | uncertain significance | 16 | 67187265 | 67187265 | Human | | name |
| 155928294 | CV2281074 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1498T>C (p.Ser500Pro) | not specified [RCV004147347] | uncertain significance | 16 | 67185489 | 67185489 | Human | | name |
| 155945526 | CV2292149 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1736A>G (p.Asn579Ser) | not specified [RCV004160405] | uncertain significance | 16 | 67185149 | 67185149 | Human | | name |
| 155999499 | CV2296203 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1855G>A (p.Glu619Lys) | not specified [RCV004154122] | uncertain significance | 16 | 67184952 | 67184952 | Human | | name |
| 156257620 | CV2322078 | single nucleotide variant | NM_178516.4(EXOC3L1):c.2077C>T (p.Arg693Trp) | not specified [RCV004173821] | uncertain significance | 16 | 67184558 | 67184558 | Human | | name |
| 155994409 | CV2379540 | single nucleotide variant | NM_178516.4(EXOC3L1):c.2002G>A (p.Gly668Ser) | not specified [RCV004217249] | uncertain significance | 16 | 67184714 | 67184714 | Human | | name |
| 329360944 | CV2439920 | single nucleotide variant | NM_178516.4(EXOC3L1):c.2050C>T (p.Leu684Phe) | not specified [RCV004257954] | uncertain significance | 16 | 67184585 | 67184585 | Human | | name |
| 329363387 | CV2446218 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1333C>A (p.Gln445Lys) | not specified [RCV004264617] | uncertain significance | 16 | 67186609 | 67186609 | Human | | name |
| 401736940 | CV2679186 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1453G>A (p.Val485Met) | not specified [RCV004285746] | uncertain significance | 16 | 67186280 | 67186280 | Human | | name |
| 401721883 | CV2680722 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1505T>C (p.Val502Ala) | not specified [RCV004291332] | uncertain significance | 16 | 67185482 | 67185482 | Human | | name |
| 401760692 | CV2715902 | single nucleotide variant | NM_178516.4(EXOC3L1):c.2210C>G (p.Ser737Cys) | not specified [RCV004329009] | uncertain significance | 16 | 67184425 | 67184425 | Human | | name |
| 401863010 | CV2755777 | single nucleotide variant | NM_178516.4(EXOC3L1):c.2093C>T (p.Ala698Val) | not specified [RCV004342153] | uncertain significance | 16 | 67184542 | 67184542 | Human | | name |
| 401911721 | CV2808024 | single nucleotide variant | NM_178516.4(EXOC3L1):c.2147G>A (p.Arg716His) | not provided [RCV003426737] | likely benign | 16 | 67184488 | 67184488 | Human | | name |
| 401911722 | CV2808025 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1346A>G (p.His449Arg) | not provided [RCV003426738] | likely benign | 16 | 67186596 | 67186596 | Human | | name |
| 405772815 | CV3252561 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1010T>C (p.Leu337Ser) | not specified [RCV004385445] | uncertain significance | 16 | 67187255 | 67187255 | Human | | name |
| 405772823 | CV3252562 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1216C>T (p.Arg406Trp) | not specified [RCV004385446] | uncertain significance | 16 | 67186827 | 67186827 | Human | | name |
| 405772828 | CV3252563 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1241C>T (p.Pro414Leu) | not specified [RCV004385447] | uncertain significance | 16 | 67186802 | 67186802 | Human | | name |
| 405772841 | CV3252565 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1337A>G (p.Gln446Arg) | not specified [RCV004385449] | likely benign | 16 | 67186605 | 67186605 | Human | | name |
| 405772847 | CV3252566 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1574T>G (p.Leu525Trp) | not specified [RCV004385450] | uncertain significance | 16 | 67185413 | 67185413 | Human | | name |
| 405772853 | CV3252567 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1700C>T (p.Thr567Met) | not specified [RCV004385451] | uncertain significance | 16 | 67185185 | 67185185 | Human | | name |
| 405772859 | CV3252568 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1765G>A (p.Ala589Thr) | not specified [RCV004385452] | uncertain significance | 16 | 67185042 | 67185042 | Human | | name |
| 405772865 | CV3252569 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1780G>C (p.Val594Leu) | not specified [RCV004385453] | uncertain significance | 16 | 67185027 | 67185027 | Human | | name |
| 405772873 | CV3252570 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1883T>C (p.Leu628Pro) | not specified [RCV004385454] | uncertain significance | 16 | 67184924 | 67184924 | Human | | name |
| 405772878 | CV3252571 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1961T>C (p.Leu654Pro) | not specified [RCV004385455] | uncertain significance | 16 | 67184755 | 67184755 | Human | | name |
| 407500364 | CV3438597 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.37C>A (p.Leu13Met) | not specified [RCV004622916] | uncertain significance | 14 | 103100256 | 103100256 | Human | | name |
| 597715201 | CV3675141 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1858C>T (p.Arg620Cys) | not specified [RCV004918201] | uncertain significance | 16 | 67184949 | 67184949 | Human | | name |
| 597715211 | CV3675142 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1591C>A (p.Arg531Ser) | not specified [RCV004918202] | uncertain significance | 16 | 67185396 | 67185396 | Human | | name |
| 597715253 | CV3675146 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1349G>A (p.Gly450Asp) | not specified [RCV004918206] | uncertain significance | 16 | 67186593 | 67186593 | Human | | name |
| 597715263 | CV3675147 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1613A>G (p.Gln538Arg) | not specified [RCV004918207] | uncertain significance | 16 | 67185374 | 67185374 | Human | | name |
| 597715276 | CV3675148 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1529C>T (p.Ala510Val) | not specified [RCV004918208] | likely benign | 16 | 67185458 | 67185458 | Human | | name |
| 597715285 | CV3675149 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1240C>T (p.Pro414Ser) | not specified [RCV004918209] | uncertain significance | 16 | 67186803 | 67186803 | Human | | name |
| 597715296 | CV3675150 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1906G>C (p.Gly636Arg) | not specified [RCV004918210] | uncertain significance | 16 | 67184810 | 67184810 | Human | | name |
| 597715306 | CV3675151 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1859G>A (p.Arg620His) | not specified [RCV004918211] | uncertain significance | 16 | 67184948 | 67184948 | Human | | name |
| 597715317 | CV3675152 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1255T>G (p.Tyr419Asp) | not specified [RCV004918212] | uncertain significance | 16 | 67186788 | 67186788 | Human | | name |
| 598210522 | CV3954782 | single nucleotide variant | NM_178516.4(EXOC3L1):c.2128T>C (p.Ser710Pro) | not specified [RCV005338761] | uncertain significance | 16 | 67184507 | 67184507 | Human | | name |
| 598210528 | CV3954783 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1729G>A (p.Val577Met) | not specified [RCV005338762] | uncertain significance | 16 | 67185156 | 67185156 | Human | | name |
| 598210555 | CV3954787 | single nucleotide variant | NM_178516.4(EXOC3L1):c.1712G>A (p.Cys571Tyr) | not specified [RCV005338766] | uncertain significance | 16 | 67185173 | 67185173 | Human | | name |
| 151845256 | CV1345987 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1449C>T (p.Gly483=) | not provided [RCV001936622] | uncertain significance | 19 | 45227997 | 45227997 | Human | | name |
| 152053720 | CV1523764 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1279C>A (p.Arg427=) | not provided [RCV002127529] | benign | 19 | 45228257 | 45228257 | Human | | name |
| 152110461 | CV1581528 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1254C>T (p.Cys418=) | not provided [RCV002096779] | likely benign | 19 | 45231778 | 45231778 | Human | | name |
| 152157686 | CV1615980 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1632G>A (p.Pro544=) | not provided [RCV002159072] | benign | 19 | 45224865 | 45224865 | Human | | name |
| 152092928 | CV1631882 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2025C>T (p.Ala675=) | not provided [RCV002132270] | benign | 19 | 45216168 | 45216168 | Human | | name |
| 152068214 | CV1660222 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1932C>T (p.Thr644=) | not provided [RCV002147716] | likely benign | 19 | 45217594 | 45217594 | Human | | name |
| 156411592 | CV1889443 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1689C>T (p.Val563=) | not provided [RCV003072543] | likely benign | 19 | 45224808 | 45224808 | Human | | name |
| 156363567 | CV1901465 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1749G>A (p.Lys583=) | not provided [RCV002602665] | likely benign | 19 | 45218290 | 45218290 | Human | | name |
| 156052158 | CV1931974 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1425G>A (p.Glu475=) | not provided [RCV002620647] | likely benign | 19 | 45228021 | 45228021 | Human | | name |
| 156213502 | CV1963125 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1404C>T (p.Arg468=) | not provided [RCV002575242] | likely benign | 19 | 45228042 | 45228042 | Human | | name |
| 156007466 | CV2042460 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1200G>A (p.Gly400=) | not provided [RCV002794917] | likely benign | 19 | 45231832 | 45231832 | Human | | name |
| 156113381 | CV2154330 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2328C>A (p.Leu776=) | not provided [RCV003021505] | likely benign | 19 | 45213150 | 45213150 | Human | | name |
| 156361329 | CV2158849 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1704G>C (p.Leu568=) | not provided [RCV003031585] | likely benign | 19 | 45224793 | 45224793 | Human | | name |
| 329358564 | CV2425210 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.254G>A (p.Arg85Gln) | not specified [RCV004250885] | uncertain significance | 14 | 103100473 | 103100473 | Human | | name |
| 402498580 | CV2871880 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2388G>A (p.Ala796=) | not provided [RCV003545668] | benign | 19 | 45213090 | 45213090 | Human | | name |
| 405156725 | CV3065006 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1353G>T (p.Leu451=) | not provided [RCV003726809] | likely benign | 19 | 45228183 | 45228183 | Human | | name |
| 405035722 | CV3072455 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1311C>T (p.Asp437=) | not provided [RCV003739417] | benign | 19 | 45228225 | 45228225 | Human | | name |
| 405773083 | CV3252605 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.262C>T (p.Arg88Trp) | not specified [RCV004385489] | uncertain significance | 14 | 103100481 | 103100481 | Human | | name |
| 405773091 | CV3252606 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.297T>G (p.His99Gln) | not specified [RCV004385490] | likely benign | 14 | 103100516 | 103100516 | Human | | name |
| 407500372 | CV3438595 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.278A>C (p.Asp93Ala) | not specified [RCV004622914] | uncertain significance | 14 | 103100497 | 103100497 | Human | | name |
| 407500344 | CV3438602 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.161G>A (p.Arg54Lys) | not specified [RCV004622921] | uncertain significance | 14 | 103100380 | 103100380 | Human | | name |
| 597969746 | CV3753442 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2013G>C (p.Ser671=) | not provided [RCV005083927] | likely benign | 19 | 45216180 | 45216180 | Human | | name |
| 8635108 | CV90330 | single nucleotide variant | NM_001077594.1(EXOC3L4):c.1638C>T (p.Pro546=) | Malignant melanoma [RCV000070428] | not provided | 14 | 103107480 | 103107480 | Human | | name |
| 34890905 | CV904680 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2379G>A (p.Pro793=) | not provided [RCV001171806] | likely benign | 19 | 45213099 | 45213099 | Human | | name |
| 150466384 | CV1255730 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.889G>A (p.Val297Met) | not provided [RCV001670364] | benign | 14 | 103102612 | 103102612 | Human | | name |
| 151663366 | CV1333904 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.561C>G (p.Asp187Glu) | not provided [RCV004799675] | uncertain significance | 14 | 103102284 | 103102284 | Human | | name |
| 155972061 | CV2214237 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.358A>G (p.Thr120Ala) | not specified [RCV004086230] | uncertain significance | 14 | 103100577 | 103100577 | Human | | name |
| 156387876 | CV2221640 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.918C>G (p.Phe306Leu) | not specified [RCV004096888] | uncertain significance | 14 | 103102641 | 103102641 | Human | | name |
| 156277231 | CV2287824 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.527C>G (p.Ala176Gly) | not specified [RCV004143266] | uncertain significance | 14 | 103102250 | 103102250 | Human | | name |
| 156291795 | CV2321155 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.923C>T (p.Ala308Val) | not specified [RCV004175281] | uncertain significance | 14 | 103102646 | 103102646 | Human | | name |
| 156355872 | CV2324566 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.941G>A (p.Arg314His) | not specified [RCV004179039] | uncertain significance | 14 | 103102664 | 103102664 | Human | | name |
| 156181912 | CV2338160 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.689A>G (p.Asp230Gly) | not specified [RCV004184190] | uncertain significance | 14 | 103102412 | 103102412 | Human | | name |
| 155983809 | CV2348103 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.682C>A (p.Pro228Thr) | not specified [RCV004197781] | uncertain significance | 14 | 103102405 | 103102405 | Human | | name |
| 155936213 | CV2379785 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.593G>T (p.Arg198Leu) | not specified [RCV004219900] | uncertain significance | 14 | 103102316 | 103102316 | Human | | name |
| 156222626 | CV2394701 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.931G>A (p.Val311Ile) | not specified [RCV004234380] | uncertain significance | 14 | 103102654 | 103102654 | Human | | name |
| 155933860 | CV2399400 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.647G>A (p.Arg216His) | not specified [RCV004242681] | uncertain significance | 14 | 103102370 | 103102370 | Human | | name |
| 329360084 | CV2458504 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.817T>A (p.Ser273Thr) | not specified [RCV004268201] | uncertain significance | 14 | 103102540 | 103102540 | Human | | name |
| 329375654 | CV2468741 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.946T>G (p.Phe316Val) | not specified [RCV004280064] | uncertain significance | 14 | 103102669 | 103102669 | Human | | name |
| 401747591 | CV2688954 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.776G>T (p.Arg259Leu) | not specified [RCV004303954] | uncertain significance | 14 | 103102499 | 103102499 | Human | | name |
| 401764735 | CV2728053 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.968G>A (p.Arg323His) | not specified [RCV004324167] | uncertain significance | 14 | 103102691 | 103102691 | Human | | name |
| 401887603 | CV2772041 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.478G>C (p.Val160Leu) | not specified [RCV004344715] | uncertain significance | 14 | 103102201 | 103102201 | Human | | name |
| 401928963 | CV2808893 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.326G>A (p.Arg109Gln) | not provided [RCV003407030] | uncertain significance | 19 | 45238720 | 45238720 | Human | | name |
| 405773095 | CV3252607 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.715C>A (p.Arg239Ser) | not specified [RCV004385491] | uncertain significance | 14 | 103102438 | 103102438 | Human | | name |
| 405773099 | CV3252608 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.736G>C (p.Glu246Gln) | not specified [RCV004385492] | uncertain significance | 14 | 103102459 | 103102459 | Human | | name |
| 405773105 | CV3252609 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.979C>T (p.Leu327Phe) | not specified [RCV004385493] | uncertain significance | 14 | 103102702 | 103102702 | Human | | name |
| 405854902 | CV3395028 | duplication | NM_001382422.1(EXOC3L2):c.1972dup (p.Gln658fs) | EXOC3L2-related brain malformations and/or renal disease [RCV004555170] | likely pathogenic | 19 | 45217553 | 45217554 | Human | | name , trait |
| 407500381 | CV3438593 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.325G>T (p.Gly109Trp) | not specified [RCV004622912] | uncertain significance | 14 | 103100544 | 103100544 | Human | | name |
| 407500352 | CV3438600 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.316G>A (p.Val106Met) | not specified [RCV004622919] | uncertain significance | 14 | 103100535 | 103100535 | Human | | name |
| 407500348 | CV3438601 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.418A>C (p.Ile140Leu) | not specified [RCV004622920] | uncertain significance | 14 | 103102141 | 103102141 | Human | | name |
| 597715459 | CV3675165 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.712C>T (p.Pro238Ser) | not specified [RCV004918225] | uncertain significance | 14 | 103102435 | 103102435 | Human | | name |
| 597715470 | CV3675166 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.802G>A (p.Glu268Lys) | not specified [RCV004918226] | uncertain significance | 14 | 103102525 | 103102525 | Human | | name |
| 597715516 | CV3675171 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.373G>A (p.Glu125Lys) | not specified [RCV004918231] | uncertain significance | 14 | 103100592 | 103100592 | Human | | name |
| 597715529 | CV3675172 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.613G>A (p.Gly205Ser) | not specified [RCV004918232] | uncertain significance | 14 | 103102336 | 103102336 | Human | | name |
| 597715539 | CV3675173 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.388G>C (p.Glu130Gln) | not specified [RCV004918233] | uncertain significance | 14 | 103100607 | 103100607 | Human | | name |
| 597715575 | CV3675176 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.658G>A (p.Ala220Thr) | not specified [RCV004918236] | uncertain significance | 14 | 103102381 | 103102381 | Human | | name |
| 598210607 | CV3954795 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.549C>G (p.Cys183Trp) | not specified [RCV005338774] | uncertain significance | 14 | 103102272 | 103102272 | Human | | name |
| 598194679 | CV3954798 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.706C>T (p.Arg236Cys) | not specified [RCV005335438] | uncertain significance | 14 | 103102429 | 103102429 | Human | | name |
| 150516429 | CV1227060 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1126G>T (p.Ala376Ser) | not provided [RCV001639158] | benign | 14 | 103104017 | 103104017 | Human | | name |
| 151727621 | CV1241975 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1301T>A (p.Leu434Gln) | Meckel-like syndrome [RCV001844343] | pathogenic | 19 | 45228235 | 45228235 | Human | | name |
| 151846126 | CV1353674 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2269C>G (p.Pro757Ala) | not provided [RCV001957351]|not specified [RCV004044262] | uncertain significance | 19 | 45213209 | 45213209 | Human | | name |
| 151773656 | CV1424061 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2390G>A (p.Arg797Gln) | not provided [RCV002045485]|not specified [RCV004917766] | uncertain significance | 19 | 45213088 | 45213088 | Human | | name |
| 151872077 | CV1480607 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2176C>T (p.Arg726Cys) | not provided [RCV001906621] | uncertain significance | 19 | 45213302 | 45213302 | Human | | name |
| 152028828 | CV1555543 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2372G>A (p.Arg791Gln) | not provided [RCV002185966] | benign | 19 | 45213106 | 45213106 | Human | | name |
| 152042475 | CV1621708 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1696A>G (p.Asn566Asp) | not provided [RCV002107933] | benign | 19 | 45224801 | 45224801 | Human | | name |
| 152039604 | CV1658129 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2347A>G (p.Ser783Gly) | not provided [RCV002206143] | benign | 19 | 45213131 | 45213131 | Human | | name |
| 156054864 | CV1869847 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1690G>A (p.Val564Met) | not provided [RCV003053127] | uncertain significance | 19 | 45224807 | 45224807 | Human | | name |
| 156046222 | CV1927115 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1744C>T (p.Arg582Trp) | not provided [RCV002637768]|not specified [RCV004070793] | uncertain significance | 19 | 45218295 | 45218295 | Human | | name |
| 156300080 | CV2002009 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1684C>G (p.Arg562Gly) | not provided [RCV002671120]|not specified [RCV005343457] | uncertain significance | 19 | 45224813 | 45224813 | Human | | name |
| 155940722 | CV2054944 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2001G>C (p.Glu667Asp) | not provided [RCV002815678] | uncertain significance | 19 | 45216192 | 45216192 | Human | | name |
| 156006087 | CV2099747 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1399C>T (p.Pro467Ser) | not provided [RCV002908863] | benign | 19 | 45228047 | 45228047 | Human | | name |
| 156204961 | CV2103653 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1673G>A (p.Arg558Gln) | not provided [RCV002931828] | likely benign | 19 | 45224824 | 45224824 | Human | | name |
| 156136636 | CV2105802 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1741C>T (p.Arg581Cys) | not provided [RCV002914749] | uncertain significance | 19 | 45218298 | 45218298 | Human | | name |
| 155902146 | CV2127009 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2215T>C (p.Ser739Pro) | not provided [RCV002967486] | benign|likely benign | 19 | 45213263 | 45213263 | Human | | name |
| 155963669 | CV2134629 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1685G>A (p.Arg562His) | not provided [RCV002972505]|not specified [RCV004065132] | uncertain significance | 19 | 45224812 | 45224812 | Human | | name |
| 156368111 | CV2199771 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2027G>A (p.Arg676Gln) | not specified [RCV004073975] | uncertain significance | 14 | 103110081 | 103110081 | Human | | name |
| 156248622 | CV2203169 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1634A>G (p.His545Arg) | not specified [RCV004070867] | likely benign | 14 | 103107476 | 103107476 | Human | | name |
| 156379044 | CV2207868 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1150A>C (p.Ser384Arg) | not specified [RCV004084297] | uncertain significance | 14 | 103104041 | 103104041 | Human | | name |
| 155921380 | CV2212285 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2021G>A (p.Arg674His) | not specified [RCV004090947] | uncertain significance | 14 | 103110075 | 103110075 | Human | | name |
| 155969679 | CV2213374 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1663G>A (p.Ala555Thr) | not specified [RCV004087362] | likely benign | 14 | 103107505 | 103107505 | Human | | name |
| 156400788 | CV2217176 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1936C>T (p.Arg646Trp) | not specified [RCV004087633] | uncertain significance | 14 | 103108477 | 103108477 | Human | | name |
| 155941065 | CV2232408 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1645T>A (p.Ser549Thr) | not specified [RCV004099035] | uncertain significance | 19 | 45224852 | 45224852 | Human | | name |
| 155951274 | CV2238753 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1073G>A (p.Gly358Glu) | not specified [RCV004109681] | uncertain significance | 14 | 103103964 | 103103964 | Human | | name |
| 156232817 | CV2245199 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1367G>T (p.Cys456Phe) | not specified [RCV004106977] | uncertain significance | 19 | 45228169 | 45228169 | Human | | name |
| 156208219 | CV2250100 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2102G>A (p.Arg701His) | not specified [RCV004116921] | uncertain significance | 19 | 45216091 | 45216091 | Human | | name |
| 156135399 | CV2256889 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1688T>C (p.Val563Ala) | not specified [RCV004121094] | uncertain significance | 19 | 45224809 | 45224809 | Human | | name |
| 155963721 | CV2261515 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1925A>G (p.Asp642Gly) | not specified [RCV004123946] | uncertain significance | 14 | 103108466 | 103108466 | Human | | name |
| 156021879 | CV2264507 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1794G>T (p.Met598Ile) | not specified [RCV004138396] | uncertain significance | 14 | 103107723 | 103107723 | Human | | name |
| 156026428 | CV2271065 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2018G>C (p.Gly673Ala) | not specified [RCV004134456] | uncertain significance | 14 | 103110072 | 103110072 | Human | | name |
| 156262701 | CV2287643 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1370G>A (p.Gly457Asp) | not specified [RCV004141076] | uncertain significance | 14 | 103104823 | 103104823 | Human | | name |
| 156181328 | CV2298525 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2101C>T (p.Arg701Cys) | not specified [RCV004162182] | uncertain significance | 19 | 45216092 | 45216092 | Human | | name |
| 156198024 | CV2334451 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1912G>A (p.Glu638Lys) | not specified [RCV004188423] | uncertain significance | 14 | 103108453 | 103108453 | Human | | name |
| 155921850 | CV2340521 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2077G>A (p.Gly693Arg) | not specified [RCV004197240] | uncertain significance | 14 | 103110131 | 103110131 | Human | | name |
| 156341766 | CV2344947 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1483C>T (p.Arg495Cys) | not specified [RCV004193242] | uncertain significance | 19 | 45227762 | 45227762 | Human | | name |
| 156280585 | CV2348459 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2396G>A (p.Arg799Gln) | not provided [RCV005098981]|not specified [RCV004193649] | likely benign|uncertain significance | 19 | 45213082 | 45213082 | Human | | name |
| 156139607 | CV2354791 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1607G>A (p.Arg536Gln) | not specified [RCV004204776] | uncertain significance | 19 | 45224890 | 45224890 | Human | | name |
| 156106057 | CV2361385 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1394G>A (p.Arg465Gln) | not specified [RCV004218587] | uncertain significance | 19 | 45228052 | 45228052 | Human | | name |
| 156073695 | CV2365470 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2068C>G (p.Pro690Ala) | not specified [RCV004209542] | uncertain significance | 19 | 45216125 | 45216125 | Human | | name |
| 155929879 | CV2369940 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1831G>A (p.Glu611Lys) | not specified [RCV004208405] | uncertain significance | 19 | 45218208 | 45218208 | Human | | name |
| 156401957 | CV2371244 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1777C>T (p.Arg593Trp) | not specified [RCV004220982] | likely benign | 14 | 103107706 | 103107706 | Human | | name |
| 156346081 | CV2377882 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1867A>G (p.Thr623Ala) | not specified [RCV004230453] | uncertain significance | 14 | 103108408 | 103108408 | Human | | name |
| 156211626 | CV2378310 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1729G>A (p.Val577Met) | not specified [RCV004226340] | uncertain significance | 14 | 103107658 | 103107658 | Human | | name |
| 156000716 | CV2378732 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1687C>T (p.Arg563Trp) | not specified [RCV004231189] | uncertain significance | 14 | 103107529 | 103107529 | Human | | name |
| 156190658 | CV2391147 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2371C>T (p.Arg791Trp) | not specified [RCV004235123] | uncertain significance | 19 | 45213107 | 45213107 | Human | | name |
| 155969124 | CV2391544 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2261C>T (p.Ala754Val) | not specified [RCV004239927] | uncertain significance | 19 | 45213217 | 45213217 | Human | | name |
| 156228586 | CV2393022 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2194G>A (p.Val732Met) | not specified [RCV004242874] | uncertain significance | 19 | 45213284 | 45213284 | Human | | name |
| 329372977 | CV2434059 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1592C>T (p.Ala531Val) | not specified [RCV004249959] | uncertain significance | 19 | 45224905 | 45224905 | Human | | name |
| 329361209 | CV2436787 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1426C>T (p.Arg476Trp) | not specified [RCV004260190] | uncertain significance | 19 | 45228020 | 45228020 | Human | | name |
| 329365256 | CV2440192 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1291C>G (p.Leu431Val) | not specified [RCV004260643] | uncertain significance | 19 | 45228245 | 45228245 | Human | | name |
| 329380269 | CV2466521 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1271C>T (p.Ala424Val) | not specified [RCV004274064] | uncertain significance | 19 | 45228265 | 45228265 | Human | | name |
| 401729079 | CV2673145 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1742G>A (p.Arg581His) | not specified [RCV004284128] | uncertain significance | 19 | 45218297 | 45218297 | Human | | name |
| 401731495 | CV2674393 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1538A>G (p.Tyr513Cys) | not specified [RCV004289263] | uncertain significance | 19 | 45227707 | 45227707 | Human | | name |
| 401719986 | CV2675741 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2403G>C (p.Gln801His) | not specified [RCV004287986] | uncertain significance | 19 | 45213075 | 45213075 | Human | | name |
| 401746330 | CV2694836 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1990C>G (p.Arg664Gly) | not specified [RCV004300913] | uncertain significance | 19 | 45217536 | 45217536 | Human | | name |
| 401726207 | CV2695605 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2149G>A (p.Val717Met) | not specified [RCV004299425] | uncertain significance | 14 | 103110203 | 103110203 | Human | | name |
| 401763175 | CV2707562 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1285G>A (p.Ala429Thr) | not specified [RCV004312928] | uncertain significance | 19 | 45228251 | 45228251 | Human | | name |
| 401749829 | CV2711023 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2054A>G (p.Gln685Arg) | not specified [RCV004310723] | uncertain significance | 14 | 103110108 | 103110108 | Human | | name |
| 401762689 | CV2711112 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2030A>C (p.Asn677Thr) | not specified [RCV004310795] | uncertain significance | 14 | 103110084 | 103110084 | Human | | name |
| 401724454 | CV2714848 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1240C>A (p.Leu414Met) | not specified [RCV004320401] | uncertain significance | 14 | 103104345 | 103104345 | Human | | name |
| 401778791 | CV2735504 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1891T>C (p.Cys631Arg) | not specified [RCV004331061] | uncertain significance | 14 | 103108432 | 103108432 | Human | | name |
| 401866744 | CV2758993 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1745G>A (p.Arg582Gln) | not specified [RCV004342304] | uncertain significance | 19 | 45218294 | 45218294 | Human | | name |
| 401870296 | CV2765815 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1694G>A (p.Arg565Gln) | not specified [RCV004335809] | uncertain significance | 14 | 103107536 | 103107536 | Human | | name |
| 401883935 | CV2785809 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2131G>A (p.Val711Met) | not specified [RCV004365055] | uncertain significance | 19 | 45213347 | 45213347 | Human | | name |
| 401895079 | CV2792772 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2003C>A (p.Ala668Glu) | not specified [RCV004365528] | uncertain significance | 14 | 103110057 | 103110057 | Human | | name |
| 401910674 | CV2808892 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2366G>A (p.Arg789Gln) | not provided [RCV003425257] | uncertain significance | 19 | 45213112 | 45213112 | Human | | name |
| 405181233 | CV3060590 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2365C>T (p.Arg789Trp) | not provided [RCV003728723] | uncertain significance | 19 | 45213113 | 45213113 | Human | | name |
| 405772957 | CV3252584 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2188C>G (p.Leu730Val) | not specified [RCV004385468] | uncertain significance | 19 | 45213290 | 45213290 | Human | | name |
| 405772964 | CV3252585 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2326C>G (p.Leu776Val) | not specified [RCV004385469] | uncertain significance | 19 | 45213152 | 45213152 | Human | | name |
| 405772969 | CV3252586 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1305G>T (p.Gln435His) | not specified [RCV004385470] | uncertain significance | 19 | 45228231 | 45228231 | Human | | name |
| 405772975 | CV3252587 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1402C>T (p.Arg468Cys) | not specified [RCV004385471] | uncertain significance | 19 | 45228044 | 45228044 | Human | | name |
| 405772982 | CV3252588 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1427G>A (p.Arg476Gln) | not specified [RCV004385472] | uncertain significance | 19 | 45228019 | 45228019 | Human | | name |
| 405772988 | CV3252589 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1627G>A (p.Glu543Lys) | not specified [RCV004385473] | uncertain significance | 19 | 45224870 | 45224870 | Human | | name |
| 405772994 | CV3252590 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2005C>G (p.Gln669Glu) | not specified [RCV004385474] | uncertain significance | 19 | 45216188 | 45216188 | Human | | name |
| 405772998 | CV3252591 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2146G>A (p.Asp716Asn) | not specified [RCV004385475] | uncertain significance | 19 | 45213332 | 45213332 | Human | | name |
| 405773003 | CV3252592 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2162G>A (p.Arg721His) | not specified [RCV004385476] | uncertain significance | 19 | 45213316 | 45213316 | Human | | name |
| 405773009 | CV3252593 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1157T>C (p.Leu386Pro) | not specified [RCV004385477] | uncertain significance | 14 | 103104048 | 103104048 | Human | | name |
| 405773015 | CV3252594 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1252T>C (p.Tyr418His) | not specified [RCV004385478] | uncertain significance | 14 | 103104357 | 103104357 | Human | | name |
| 405773022 | CV3252595 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1276G>A (p.Val426Ile) | not specified [RCV004385479] | uncertain significance | 14 | 103104381 | 103104381 | Human | | name |
| 405773029 | CV3252596 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1306G>A (p.Ala436Thr) | not specified [RCV004385480] | uncertain significance | 14 | 103104759 | 103104759 | Human | | name |
| 405773035 | CV3252597 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1414G>C (p.Ala472Pro) | not specified [RCV004385481] | uncertain significance | 14 | 103105020 | 103105020 | Human | | name |
| 405773041 | CV3252598 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1607G>A (p.Arg536Lys) | not specified [RCV004385482] | likely benign | 14 | 103107449 | 103107449 | Human | | name |
| 405773048 | CV3252599 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1772G>A (p.Arg591Gln) | not specified [RCV004385483] | uncertain significance | 14 | 103107701 | 103107701 | Human | | name |
| 405773061 | CV3252601 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1848G>C (p.Gln616His) | not specified [RCV004385485] | uncertain significance | 14 | 103107777 | 103107777 | Human | | name |
| 405773066 | CV3252602 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2036A>G (p.His679Arg) | not specified [RCV004385486] | likely benign | 14 | 103110090 | 103110090 | Human | | name |
| 405773072 | CV3252603 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2105G>A (p.Gly702Asp) | not specified [RCV004385487] | uncertain significance | 14 | 103110159 | 103110159 | Human | | name |
| 405773079 | CV3252604 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2108G>T (p.Arg703Leu) | not specified [RCV004385488] | uncertain significance | 14 | 103110162 | 103110162 | Human | | name |
| 407500411 | CV3438586 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1517G>A (p.Arg506Gln) | not specified [RCV004622905] | uncertain significance | 19 | 45227728 | 45227728 | Human | | name |
| 407500403 | CV3438588 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1598G>A (p.Arg533His) | not specified [RCV004622907] | uncertain significance | 19 | 45224899 | 45224899 | Human | | name |
| 407500398 | CV3438589 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1576C>T (p.Pro526Ser) | not specified [RCV004622908] | uncertain significance | 19 | 45227669 | 45227669 | Human | | name |
| 407500395 | CV3438590 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2198C>T (p.Ala733Val) | not specified [RCV004622909] | uncertain significance | 19 | 45213280 | 45213280 | Human | | name |
| 407500389 | CV3438591 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2276C>T (p.Pro759Leu) | not specified [RCV004622910] | uncertain significance | 19 | 45213202 | 45213202 | Human | | name |
| 407500385 | CV3438592 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1255G>T (p.Val419Phe) | not specified [RCV004622911] | uncertain significance | 19 | 45231777 | 45231777 | Human | | name |
| 407500376 | CV3438594 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2095G>A (p.Ala699Thr) | not specified [RCV004622913] | uncertain significance | 14 | 103110149 | 103110149 | Human | | name |
| 407500368 | CV3438596 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1583C>T (p.Pro528Leu) | not specified [RCV004622915] | uncertain significance | 14 | 103107425 | 103107425 | Human | | name |
| 597715339 | CV3675154 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1672C>T (p.Arg558Trp) | not specified [RCV004918214] | uncertain significance | 19 | 45224825 | 45224825 | Human | | name |
| 597715350 | CV3675155 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2278C>T (p.Arg760Cys) | not specified [RCV004918215] | uncertain significance | 19 | 45213200 | 45213200 | Human | | name |
| 597715361 | CV3675156 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1612G>T (p.Gly538Trp) | not specified [RCV004918216] | uncertain significance | 19 | 45224885 | 45224885 | Human | | name |
| 597715373 | CV3675157 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1594G>A (p.Glu532Lys) | not specified [RCV004918217] | uncertain significance | 19 | 45224903 | 45224903 | Human | | name |
| 597715385 | CV3675158 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2396G>C (p.Arg799Pro) | not specified [RCV004918218] | uncertain significance | 19 | 45213082 | 45213082 | Human | | name |
| 597715395 | CV3675159 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2377C>G (p.Pro793Ala) | not specified [RCV004918219] | uncertain significance | 19 | 45213101 | 45213101 | Human | | name |
| 597715407 | CV3675160 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1235G>A (p.Arg412Gln) | not specified [RCV004918220] | uncertain significance | 19 | 45231797 | 45231797 | Human | | name |
| 597715416 | CV3675161 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1229C>A (p.Thr410Asn) | not specified [RCV004918221] | uncertain significance | 19 | 45231803 | 45231803 | Human | | name |
| 597715429 | CV3675162 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1199G>A (p.Gly400Glu) | not specified [RCV004918222] | uncertain significance | 19 | 45231833 | 45231833 | Human | | name |
| 597715438 | CV3675163 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1666G>A (p.Gly556Ser) | not specified [RCV004918223] | uncertain significance | 14 | 103107508 | 103107508 | Human | | name |
| 597715450 | CV3675164 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2081C>T (p.Ala694Val) | not specified [RCV004918224] | likely benign | 14 | 103110135 | 103110135 | Human | | name |
| 597715479 | CV3675167 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1072G>A (p.Gly358Arg) | not specified [RCV004918227] | uncertain significance | 14 | 103103963 | 103103963 | Human | | name |
| 597715498 | CV3675169 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1166A>G (p.Lys389Arg) | not specified [RCV004918229] | uncertain significance | 14 | 103104271 | 103104271 | Human | | name |
| 597715506 | CV3675170 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1429C>G (p.His477Asp) | not specified [RCV004918230] | uncertain significance | 14 | 103105035 | 103105035 | Human | | name |
| 597715550 | CV3675174 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1598T>C (p.Val533Ala) | not specified [RCV004918234] | uncertain significance | 14 | 103107440 | 103107440 | Human | | name |
| 597715563 | CV3675175 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1313G>T (p.Gly438Val) | not specified [RCV004918235] | uncertain significance | 14 | 103104766 | 103104766 | Human | | name |
| 597886821 | CV3855214 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2392C>G (p.Pro798Ala) | not provided [RCV005199859] | uncertain significance | 19 | 45213086 | 45213086 | Human | | name |
| 598210588 | CV3954792 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2104G>A (p.Asp702Asn) | not specified [RCV005338771] | uncertain significance | 19 | 45216089 | 45216089 | Human | | name |
| 598210595 | CV3954793 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.1492C>G (p.Arg498Gly) | not specified [RCV005338772] | uncertain significance | 19 | 45227753 | 45227753 | Human | | name |
| 598210602 | CV3954794 | single nucleotide variant | NM_001382422.1(EXOC3L2):c.2161C>T (p.Arg721Cys) | not specified [RCV005338773] | uncertain significance | 19 | 45213317 | 45213317 | Human | | name |
| 598210614 | CV3954796 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1679G>A (p.Arg560His) | not specified [RCV005338775] | likely benign | 14 | 103107521 | 103107521 | Human | | name |
| 598210620 | CV3954799 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1778G>A (p.Arg593Gln) | not specified [RCV005338776] | uncertain significance | 14 | 103107707 | 103107707 | Human | | name |
| 598210628 | CV3954800 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2084C>A (p.Ala695Glu) | not specified [RCV005338777] | uncertain significance | 14 | 103110138 | 103110138 | Human | | name |
| 598210637 | CV3954801 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2020C>T (p.Arg674Cys) | not specified [RCV005338778] | likely benign | 14 | 103110074 | 103110074 | Human | | name |
| 598210644 | CV3954802 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1910G>A (p.Gly637Asp) | not specified [RCV005338779] | uncertain significance | 14 | 103108451 | 103108451 | Human | | name |
| 598210651 | CV3954803 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1966C>G (p.Pro656Ala) | not specified [RCV005338780] | uncertain significance | 14 | 103108507 | 103108507 | Human | | name |
| 598210660 | CV3954804 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1974C>G (p.Ile658Met) | not specified [RCV005338781] | uncertain significance | 14 | 103108515 | 103108515 | Human | | name |
| 598210667 | CV3954805 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1789C>T (p.Arg597Cys) | not specified [RCV005338782] | uncertain significance | 14 | 103107718 | 103107718 | Human | | name |
| 598210675 | CV3954806 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.1446C>G (p.Ile482Met) | not specified [RCV005338783] | uncertain significance | 14 | 103105052 | 103105052 | Human | | name |
| 598210682 | CV3954807 | single nucleotide variant | NM_001077594.2(EXOC3L4):c.2071G>T (p.Ala691Ser) | not specified [RCV005338784] | uncertain significance | 14 | 103110125 | 103110125 | Human | | name |