| 15110226 | CV730708 | single nucleotide variant | NM_198597.3(SEC24C):c.1800-7T>C | not provided [RCV000894019] | benign | 10 | 73766753 | 73766753 | Human | | name |
| 15191149 | CV730709 | single nucleotide variant | NM_198597.3(SEC24C):c.3145-4G>A | not provided [RCV000888299] | benign | 10 | 73770951 | 73770951 | Human | | name |
| 15125937 | CV779643 | single nucleotide variant | NM_198597.3(SEC24C):c.850+10T>G | not provided [RCV000963662] | benign | 10 | 73760396 | 73760396 | Human | | name |
| 401899179 | CV2783731 | single nucleotide variant | NM_198597.3(SEC24C):c.40G>C (p.Gly14Arg) | not specified [RCV004360650] | uncertain significance | 10 | 73746872 | 73746872 | Human | | name |
| 597716685 | CV3605559 | single nucleotide variant | NM_198597.3(SEC24C):c.38T>C (p.Phe13Ser) | not specified [RCV004861587] | uncertain significance | 10 | 73746870 | 73746870 | Human | | name |
| 15177737 | CV701429 | single nucleotide variant | NM_198597.3(SEC24C):c.771C>G (p.Gly257=) | not provided [RCV000951110] | benign | 10 | 73760307 | 73760307 | Human | | name |
| 150337411 | CV1165954 | single nucleotide variant | NM_198597.3(SEC24C):c.2610G>A (p.Thr870=) | not provided [RCV001532606] | likely benign | 10 | 73769661 | 73769661 | Human | | name |
| 156116142 | CV2273502 | single nucleotide variant | NM_198597.3(SEC24C):c.284C>G (p.Pro95Arg) | not specified [RCV004132246] | uncertain significance | 10 | 73751219 | 73751219 | Human | | name |
| 405705229 | CV3310772 | single nucleotide variant | NM_198597.3(SEC24C):c.131A>G (p.Tyr44Cys) | not specified [RCV004447660] | uncertain significance | 10 | 73746963 | 73746963 | Human | | name |
| 405705340 | CV3310785 | single nucleotide variant | NM_198597.3(SEC24C):c.292A>G (p.Thr98Ala) | not specified [RCV004447673] | uncertain significance | 10 | 73751227 | 73751227 | Human | | name |
| 407425937 | CV3409685 | single nucleotide variant | NM_198597.3(SEC24C):c.2769C>G (p.Val923=) | not provided [RCV004585617] | likely benign | 10 | 73769922 | 73769922 | Human | | name |
| 407477144 | CV3476724 | single nucleotide variant | NM_198597.3(SEC24C):c.184G>A (p.Ala62Thr) | not specified [RCV004663649] | uncertain significance | 10 | 73751119 | 73751119 | Human | | name |
| 407477153 | CV3476726 | single nucleotide variant | NM_198597.3(SEC24C):c.128C>T (p.Ala43Val) | not specified [RCV004663651] | uncertain significance | 10 | 73746960 | 73746960 | Human | | name |
| 597716563 | CV3605544 | single nucleotide variant | NM_198597.3(SEC24C):c.164C>T (p.Pro55Leu) | not specified [RCV004861572] | uncertain significance | 10 | 73746996 | 73746996 | Human | | name |
| 597716617 | CV3605551 | single nucleotide variant | NM_198597.3(SEC24C):c.293C>G (p.Thr98Ser) | not specified [RCV004861579] | uncertain significance | 10 | 73751228 | 73751228 | Human | | name |
| 616937803 | CV3732964 | deletion | NM_198597.3(SEC24C):c.333del (p.Ser112fs) | Developmental and epileptic encephalopathy [RCV005412716] | likely pathogenic | 10 | 73759644 | 73759644 | Human | 1 | name |
| 598211203 | CV3907232 | single nucleotide variant | NM_198597.3(SEC24C):c.271G>C (p.Val91Leu) | not specified [RCV005270783] | uncertain significance | 10 | 73751206 | 73751206 | Human | | name |
| 15187578 | CV701430 | single nucleotide variant | NM_198597.3(SEC24C):c.1698C>T (p.Ala566=) | not provided [RCV000953631] | benign | 10 | 73766440 | 73766440 | Human | | name |
| 15105402 | CV712467 | single nucleotide variant | NM_198597.3(SEC24C):c.2988C>T (p.Ser996=) | not provided [RCV000959878] | likely benign | 10 | 73770405 | 73770405 | Human | | name |
| 15169726 | CV752261 | single nucleotide variant | NM_198597.3(SEC24C):c.2874C>T (p.Pro958=) | not provided [RCV000927557] | likely benign | 10 | 73770291 | 73770291 | Human | | name |
| 8626852 | CV81996 | single nucleotide variant | NM_004922.3(SEC24C):c.1143C>T (p.Ile381=) | Malignant melanoma [RCV000062075] | not provided | 10 | 73763899 | 73763899 | Human | | name |
| 156027040 | CV2242409 | single nucleotide variant | NM_198597.3(SEC24C):c.872G>T (p.Gly291Val) | not specified [RCV004111409] | uncertain significance | 10 | 73760734 | 73760734 | Human | | name |
| 155916627 | CV2336178 | single nucleotide variant | NM_198597.3(SEC24C):c.526T>A (p.Ser176Thr) | not specified [RCV004189770] | uncertain significance | 10 | 73760062 | 73760062 | Human | | name |
| 155918960 | CV2360113 | single nucleotide variant | NM_198597.3(SEC24C):c.542C>G (p.Ser181Cys) | not specified [RCV004215388] | uncertain significance | 10 | 73760078 | 73760078 | Human | | name |
| 156383936 | CV2361754 | single nucleotide variant | NM_198597.3(SEC24C):c.439G>A (p.Gly147Ser) | not provided [RCV005425089]|not specified [RCV004223229] | likely benign|uncertain significance | 10 | 73759752 | 73759752 | Human | | name |
| 156247019 | CV2396857 | single nucleotide variant | NM_198597.3(SEC24C):c.317G>A (p.Gly106Glu) | not specified [RCV004233985] | uncertain significance | 10 | 73759630 | 73759630 | Human | | name |
| 329359292 | CV2435384 | single nucleotide variant | NM_198597.3(SEC24C):c.941A>C (p.Gln314Pro) | not specified [RCV004253039] | uncertain significance | 10 | 73760803 | 73760803 | Human | | name |
| 401740439 | CV2681415 | single nucleotide variant | NM_198597.3(SEC24C):c.463T>C (p.Ser155Pro) | not specified [RCV004291960] | likely benign | 10 | 73759776 | 73759776 | Human | | name |
| 401881724 | CV2783935 | single nucleotide variant | NM_198597.3(SEC24C):c.430C>G (p.Gln144Glu) | not specified [RCV004362357] | uncertain significance | 10 | 73759743 | 73759743 | Human | | name |
| 405705385 | CV3310790 | single nucleotide variant | NM_198597.3(SEC24C):c.422C>A (p.Ser141Tyr) | not specified [RCV004447678] | uncertain significance | 10 | 73759735 | 73759735 | Human | | name |
| 405705393 | CV3310791 | single nucleotide variant | NM_198597.3(SEC24C):c.491C>T (p.Thr164Ile) | not specified [RCV004447679] | uncertain significance | 10 | 73760027 | 73760027 | Human | | name |
| 405705402 | CV3310792 | single nucleotide variant | NM_198597.3(SEC24C):c.611G>A (p.Arg204Gln) | not specified [RCV004447680] | uncertain significance | 10 | 73760147 | 73760147 | Human | | name |
| 407477176 | CV3476732 | single nucleotide variant | NM_198597.3(SEC24C):c.986C>T (p.Pro329Leu) | not specified [RCV004663656] | uncertain significance | 10 | 73760848 | 73760848 | Human | | name |
| 597716572 | CV3605545 | single nucleotide variant | NM_198597.3(SEC24C):c.859G>A (p.Gly287Arg) | not specified [RCV004861573] | uncertain significance | 10 | 73760721 | 73760721 | Human | | name |
| 597716579 | CV3605546 | single nucleotide variant | NM_198597.3(SEC24C):c.748C>A (p.Pro250Thr) | not specified [RCV004861574] | uncertain significance | 10 | 73760284 | 73760284 | Human | | name |
| 597716586 | CV3605547 | single nucleotide variant | NM_198597.3(SEC24C):c.868C>T (p.Arg290Trp) | not specified [RCV004861575] | uncertain significance | 10 | 73760730 | 73760730 | Human | | name |
| 597716608 | CV3605550 | single nucleotide variant | NM_198597.3(SEC24C):c.664C>T (p.Arg222Trp) | not specified [RCV004861578] | uncertain significance | 10 | 73760200 | 73760200 | Human | | name |
| 597716638 | CV3605553 | single nucleotide variant | NM_198597.3(SEC24C):c.971A>G (p.Asp324Gly) | not specified [RCV004861581] | uncertain significance | 10 | 73760833 | 73760833 | Human | | name |
| 597716643 | CV3605554 | single nucleotide variant | NM_198597.3(SEC24C):c.623C>T (p.Ser208Leu) | not specified [RCV004861582] | uncertain significance | 10 | 73760159 | 73760159 | Human | | name |
| 597716654 | CV3605555 | single nucleotide variant | NM_198597.3(SEC24C):c.370C>T (p.Leu124Phe) | not specified [RCV004861583] | uncertain significance | 10 | 73759683 | 73759683 | Human | | name |
| 597716661 | CV3605556 | single nucleotide variant | NM_198597.3(SEC24C):c.304C>G (p.Gln102Glu) | not specified [RCV004861584] | uncertain significance | 10 | 73751239 | 73751239 | Human | | name |
| 598211116 | CV3907217 | single nucleotide variant | NM_198597.3(SEC24C):c.320C>T (p.Ser107Phe) | not specified [RCV005270768] | uncertain significance | 10 | 73759633 | 73759633 | Human | | name |
| 598211128 | CV3907219 | single nucleotide variant | NM_198597.3(SEC24C):c.641C>T (p.Thr214Ile) | not specified [RCV005270770] | uncertain significance | 10 | 73760177 | 73760177 | Human | | name |
| 598211143 | CV3907222 | single nucleotide variant | NM_198597.3(SEC24C):c.923G>A (p.Ser308Asn) | not specified [RCV005270773] | uncertain significance | 10 | 73760785 | 73760785 | Human | | name |
| 598211155 | CV3907224 | single nucleotide variant | NM_198597.3(SEC24C):c.725G>C (p.Ser242Thr) | not specified [RCV005270775] | uncertain significance | 10 | 73760261 | 73760261 | Human | | name |
| 598211162 | CV3907225 | single nucleotide variant | NM_198597.3(SEC24C):c.704G>A (p.Ser235Asn) | not specified [RCV005270776] | uncertain significance | 10 | 73760240 | 73760240 | Human | | name |
| 598211180 | CV3907228 | single nucleotide variant | NM_198597.3(SEC24C):c.832T>C (p.Tyr278His) | not specified [RCV005270779] | uncertain significance | 10 | 73760368 | 73760368 | Human | | name |
| 15202399 | CV724063 | single nucleotide variant | NM_198597.3(SEC24C):c.763C>G (p.Pro255Ala) | not provided [RCV000891462] | benign | 10 | 73760299 | 73760299 | Human | | name |
| 156185352 | CV2195556 | single nucleotide variant | NM_198597.3(SEC24C):c.1637G>A (p.Arg546His) | not specified [RCV004082770] | uncertain significance | 10 | 73766379 | 73766379 | Human | | name |
| 155928967 | CV2224472 | single nucleotide variant | NM_198597.3(SEC24C):c.1529T>C (p.Val510Ala) | not specified [RCV004098067] | uncertain significance | 10 | 73766132 | 73766132 | Human | | name |
| 156178517 | CV2258248 | single nucleotide variant | NM_198597.3(SEC24C):c.1655A>G (p.Tyr552Cys) | not specified [RCV004121619] | uncertain significance | 10 | 73766397 | 73766397 | Human | | name |
| 156089510 | CV2259129 | single nucleotide variant | NM_198597.3(SEC24C):c.2398A>G (p.Asn800Asp) | not specified [RCV004120380] | uncertain significance | 10 | 73769126 | 73769126 | Human | | name |
| 156055409 | CV2269644 | single nucleotide variant | NM_198597.3(SEC24C):c.2602C>A (p.Arg868Ser) | not specified [RCV004126645] | uncertain significance | 10 | 73769653 | 73769653 | Human | | name |
| 155923838 | CV2280396 | single nucleotide variant | NM_198597.3(SEC24C):c.2379C>A (p.Phe793Leu) | not specified [RCV004140578] | uncertain significance | 10 | 73769107 | 73769107 | Human | | name |
| 156089898 | CV2295624 | single nucleotide variant | NM_198597.3(SEC24C):c.2257A>G (p.Met753Val) | not specified [RCV004160707] | uncertain significance | 10 | 73768885 | 73768885 | Human | | name |
| 156155153 | CV2359698 | single nucleotide variant | NM_198597.3(SEC24C):c.1327A>G (p.Arg443Gly) | not specified [RCV004210521] | uncertain significance | 10 | 73765550 | 73765550 | Human | | name |
| 156339950 | CV2367762 | single nucleotide variant | NM_198597.3(SEC24C):c.1486A>G (p.Asn496Asp) | not specified [RCV004213717] | uncertain significance | 10 | 73766089 | 73766089 | Human | | name |
| 156040038 | CV2384323 | single nucleotide variant | NM_198597.3(SEC24C):c.2219G>A (p.Arg740His) | not specified [RCV004227705] | uncertain significance | 10 | 73768847 | 73768847 | Human | | name |
| 329368122 | CV2424190 | single nucleotide variant | NM_198597.3(SEC24C):c.1330C>T (p.Arg444Cys) | not specified [RCV004250317] | uncertain significance | 10 | 73765553 | 73765553 | Human | | name |
| 401771600 | CV2686251 | single nucleotide variant | NM_198597.3(SEC24C):c.2494T>G (p.Cys832Gly) | not specified [RCV004297337] | uncertain significance | 10 | 73769416 | 73769416 | Human | | name |
| 401725203 | CV2697311 | single nucleotide variant | NM_198597.3(SEC24C):c.2201G>A (p.Arg734Gln) | not specified [RCV004304069] | uncertain significance | 10 | 73768829 | 73768829 | Human | | name |
| 401781596 | CV2722179 | single nucleotide variant | NM_198597.3(SEC24C):c.2494T>C (p.Cys832Arg) | not specified [RCV004328748] | uncertain significance | 10 | 73769416 | 73769416 | Human | | name |
| 401860664 | CV2758564 | single nucleotide variant | NM_198597.3(SEC24C):c.2587C>T (p.Pro863Ser) | not specified [RCV004337652] | uncertain significance | 10 | 73769638 | 73769638 | Human | | name |
| 401862474 | CV2775320 | single nucleotide variant | NM_198597.3(SEC24C):c.1960A>G (p.Lys654Glu) | not specified [RCV004348432] | uncertain significance | 10 | 73767120 | 73767120 | Human | | name |
| 401876410 | CV2785885 | single nucleotide variant | NM_198597.3(SEC24C):c.2393G>A (p.Arg798Gln) | not specified [RCV004365406] | uncertain significance | 10 | 73769121 | 73769121 | Human | | name |
| 405705242 | CV3310773 | single nucleotide variant | NM_198597.3(SEC24C):c.1321G>A (p.Gly441Arg) | not specified [RCV004447661] | uncertain significance | 10 | 73765544 | 73765544 | Human | | name |
| 405705251 | CV3310774 | single nucleotide variant | NM_198597.3(SEC24C):c.1469T>C (p.Val490Ala) | not specified [RCV004447662] | uncertain significance | 10 | 73765902 | 73765902 | Human | | name |
| 405705258 | CV3310775 | single nucleotide variant | NM_198597.3(SEC24C):c.1563G>C (p.Arg521Ser) | not specified [RCV004447663] | uncertain significance | 10 | 73766166 | 73766166 | Human | | name |
| 405705265 | CV3310776 | single nucleotide variant | NM_198597.3(SEC24C):c.1616G>A (p.Gly539Glu) | not specified [RCV004447664] | uncertain significance | 10 | 73766358 | 73766358 | Human | | name |
| 405705283 | CV3310778 | single nucleotide variant | NM_198597.3(SEC24C):c.1771G>A (p.Val591Ile) | not specified [RCV004447666] | uncertain significance | 10 | 73766513 | 73766513 | Human | | name |
| 405705291 | CV3310779 | single nucleotide variant | NM_198597.3(SEC24C):c.2191G>A (p.Asp731Asn) | not specified [RCV004447667] | uncertain significance | 10 | 73768819 | 73768819 | Human | | name |
| 405705298 | CV3310780 | single nucleotide variant | NM_198597.3(SEC24C):c.2392C>T (p.Arg798Trp) | not specified [RCV004447668] | uncertain significance | 10 | 73769120 | 73769120 | Human | | name |
| 405705309 | CV3310781 | single nucleotide variant | NM_198597.3(SEC24C):c.2602C>T (p.Arg868Cys) | not specified [RCV004447669] | uncertain significance | 10 | 73769653 | 73769653 | Human | | name |
| 405705317 | CV3310782 | single nucleotide variant | NM_198597.3(SEC24C):c.2614A>T (p.Ile872Phe) | not specified [RCV004447670] | uncertain significance | 10 | 73769665 | 73769665 | Human | | name |
| 405705327 | CV3310783 | single nucleotide variant | NM_198597.3(SEC24C):c.2836T>G (p.Phe946Val) | not specified [RCV004447671] | uncertain significance | 10 | 73769989 | 73769989 | Human | | name |
| 405705350 | CV3310786 | single nucleotide variant | NM_198597.3(SEC24C):c.2930A>T (p.Asn977Ile) | not specified [RCV004447674] | uncertain significance | 10 | 73770347 | 73770347 | Human | | name |
| 407477140 | CV3476723 | single nucleotide variant | NM_198597.3(SEC24C):c.2371G>T (p.Val791Leu) | not specified [RCV004663648] | uncertain significance | 10 | 73769099 | 73769099 | Human | | name |
| 407477148 | CV3476725 | single nucleotide variant | NM_198597.3(SEC24C):c.2994A>C (p.Gln998His) | not specified [RCV004663650] | uncertain significance | 10 | 73770411 | 73770411 | Human | | name |
| 407477157 | CV3476727 | single nucleotide variant | NM_198597.3(SEC24C):c.2126T>A (p.Leu709His) | not specified [RCV004663652] | uncertain significance | 10 | 73767952 | 73767952 | Human | | name |
| 407477161 | CV3476728 | single nucleotide variant | NM_198597.3(SEC24C):c.2602C>G (p.Arg868Gly) | not specified [RCV004663653] | uncertain significance | 10 | 73769653 | 73769653 | Human | | name |
| 407477166 | CV3476729 | single nucleotide variant | NM_198597.3(SEC24C):c.2281A>G (p.Ile761Val) | not specified [RCV004663654] | uncertain significance | 10 | 73769009 | 73769009 | Human | | name |
| 407477171 | CV3476730 | single nucleotide variant | NM_198597.3(SEC24C):c.2385T>G (p.His795Gln) | not specified [RCV004663655] | uncertain significance | 10 | 73769113 | 73769113 | Human | | name |
| 407492116 | CV3476731 | single nucleotide variant | NM_198597.3(SEC24C):c.1024A>G (p.Thr342Ala) | not specified [RCV004667030] | uncertain significance | 10 | 73763526 | 73763526 | Human | | name |
| 407477183 | CV3476734 | single nucleotide variant | NM_198597.3(SEC24C):c.2930A>G (p.Asn977Ser) | not specified [RCV004663658] | uncertain significance | 10 | 73770347 | 73770347 | Human | | name |
| 597716593 | CV3605548 | single nucleotide variant | NM_198597.3(SEC24C):c.2440A>T (p.Thr814Ser) | not specified [RCV004861576] | uncertain significance | 10 | 73769362 | 73769362 | Human | | name |
| 597716602 | CV3605549 | single nucleotide variant | NM_198597.3(SEC24C):c.1928A>G (p.His643Arg) | not specified [RCV004861577] | uncertain significance | 10 | 73767088 | 73767088 | Human | | name |
| 597716626 | CV3605552 | single nucleotide variant | NM_198597.3(SEC24C):c.2447G>C (p.Cys816Ser) | not specified [RCV004861580] | uncertain significance | 10 | 73769369 | 73769369 | Human | | name |
| 597716668 | CV3605557 | single nucleotide variant | NM_198597.3(SEC24C):c.1550C>T (p.Thr517Ile) | not specified [RCV004861585] | uncertain significance | 10 | 73766153 | 73766153 | Human | | name |
| 597716676 | CV3605558 | single nucleotide variant | NM_198597.3(SEC24C):c.2410G>A (p.Gly804Arg) | not specified [RCV004861586] | uncertain significance | 10 | 73769138 | 73769138 | Human | | name |
| 598211122 | CV3907218 | single nucleotide variant | NM_198597.3(SEC24C):c.1982G>A (p.Arg661Lys) | not specified [RCV005270769] | uncertain significance | 10 | 73767142 | 73767142 | Human | | name |
| 598211137 | CV3907221 | single nucleotide variant | NM_198597.3(SEC24C):c.1636C>T (p.Arg546Cys) | not specified [RCV005270772] | uncertain significance | 10 | 73766378 | 73766378 | Human | | name |
| 598211148 | CV3907223 | single nucleotide variant | NM_198597.3(SEC24C):c.1223A>T (p.Glu408Val) | not specified [RCV005270774] | uncertain significance | 10 | 73763979 | 73763979 | Human | | name |
| 598211168 | CV3907226 | single nucleotide variant | NM_198597.3(SEC24C):c.2119G>A (p.Ala707Thr) | not specified [RCV005270777] | uncertain significance | 10 | 73767945 | 73767945 | Human | | name |
| 598211174 | CV3907227 | single nucleotide variant | NM_198597.3(SEC24C):c.2921G>A (p.Arg974His) | not specified [RCV005270778] | uncertain significance | 10 | 73770338 | 73770338 | Human | | name |
| 598211184 | CV3907229 | single nucleotide variant | NM_198597.3(SEC24C):c.2662A>G (p.Ser888Gly) | not specified [RCV005270780] | uncertain significance | 10 | 73769713 | 73769713 | Human | | name |
| 598211192 | CV3907230 | single nucleotide variant | NM_198597.3(SEC24C):c.2567A>G (p.Tyr856Cys) | not specified [RCV005270781] | uncertain significance | 10 | 73769618 | 73769618 | Human | | name |
| 598211197 | CV3907231 | single nucleotide variant | NM_198597.3(SEC24C):c.1108A>G (p.Ser370Gly) | not specified [RCV005270782] | uncertain significance | 10 | 73763864 | 73763864 | Human | | name |
| 38597102 | CV801868 | single nucleotide variant | NM_198597.3(SEC24C):c.1500C>A (p.Ser500Arg) | Microcephaly [RCV001252937] | uncertain significance | 10 | 73766103 | 73766103 | Human | 2 | name |
| 8626851 | CV81995 | single nucleotide variant | NM_004922.3(SEC24C):c.1030C>T (p.Pro344Ser) | Malignant melanoma [RCV000062074] | not provided | 10 | 73763532 | 73763532 | Human | | name |
| 155919438 | CV2279418 | single nucleotide variant | NM_198597.3(SEC24C):c.3168C>G (p.Asp1056Glu) | not specified [RCV004141960] | uncertain significance | 10 | 73770978 | 73770978 | Human | | name |
| 156182407 | CV2298612 | single nucleotide variant | NM_198597.3(SEC24C):c.3220G>T (p.Gly1074Trp) | not specified [RCV004162259] | uncertain significance | 10 | 73771030 | 73771030 | Human | | name |
| 329400354 | CV2441560 | single nucleotide variant | NM_198597.3(SEC24C):c.3154G>T (p.Val1052Leu) | not specified [RCV004257344] | uncertain significance | 10 | 73770964 | 73770964 | Human | | name |
| 401883698 | CV2785739 | single nucleotide variant | NM_198597.3(SEC24C):c.3026C>G (p.Ser1009Cys) | not specified [RCV004364994] | uncertain significance | 10 | 73770443 | 73770443 | Human | | name |
| 405705357 | CV3310787 | single nucleotide variant | NM_198597.3(SEC24C):c.3068T>G (p.Val1023Gly) | not specified [RCV004447675] | uncertain significance | 10 | 73770722 | 73770722 | Human | | name |
| 405705369 | CV3310788 | single nucleotide variant | NM_198597.3(SEC24C):c.3196C>G (p.Leu1066Val) | not specified [RCV004447676] | uncertain significance | 10 | 73771006 | 73771006 | Human | | name |