Gene Genetic Variant Protein Variant Variant type Biallelic Monoallelic Described >1 patient Functional studies Bibliography UNC13D c.32G>C p.Arg11Pro missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/25901543 UNC13D c.71G>A p.Arg24His missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.115dup p.Glu39Glyfs*33 frameshift - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.117+59C>T Unknown deep-intronic Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/18492689, https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.117+525G>T Unknown deep-intronic Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/18492689 UNC13D c.118-307G>A Unknown deep-intronic Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/23672263, https://www.ncbi.nlm.nih.gov/pubmed/24470399 UNC13D c.118-308C>T Unknown deep-intronic Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/21931115, https://www.ncbi.nlm.nih.gov/pubmed/24470399, https://www.ncbi.nlm.nih.gov/pubmed/18492689 UNC13D c.169G>T p.Glu57* nonsense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/24916509 UNC13D c.175G>A p.Ala59Thr missense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/16825436 UNC13D c.175G>C p.Ala59Pro missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/26377049 UNC13D c.177_178del p.Tyr61Hisfs*10 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/16278825 UNC13D c.182A>G p.Tyr61Cys missense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/21881043 UNC13D c.196C>T p.Arg66Cys missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.214del p.Asn73Thrfs*3 frameshift Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/14622600 UNC13D c.227C>T p.Thr76Met missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/24916509 UNC13D c.247C>T p.Arg83* nonsense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/17993578, https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.292C>T p.Gln98* nonsense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/20015888 UNC13D c.297_298del p.Leu100Alafs*7 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.299T>C p.Leu100Pro missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.322-1G>A Unknown splicing Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/15466010, https://www.ncbi.nlm.nih.gov/pubmed/21653941 UNC13D c.388+5G>A Unknown splicing Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/22736603 UNC13D c.403_404insC p.Tyr135Serfs*7 frameshift Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.407G>A p.Cys136Tyr missense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/29357941 UNC13D c.419T>C p.Ile140Thr missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.441del p.Gly149Alafs*13 frameshift Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/16825436 UNC13D c.460C>T p.Arg154Trp missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.478G>A p.Val160Met missense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/27781387 UNC13D c.518C>T p.Thr173Met missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/27781387 UNC13D c.532del p.Gln178Argfs*71 frameshift Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/16825436, https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.544C>T p.Pro182Ser missense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/23669735 UNC13D c.551G>A p.Trp184* nonsense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/19903216, https://www.ncbi.nlm.nih.gov/pubmed/21755595 UNC13D c.569+5G>A Unknown splicing Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/16278825, https://www.ncbi.nlm.nih.gov/pubmed/26684649 UNC13D c.570-2A>T Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/24470399 UNC13D c.570-1G>A Unknown splicing - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/26684649 UNC13D c.570_1055dup Unknown large rearrangement Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/29596912 UNC13D c.602A>G p.His201Arg missense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.604C>A p.Leu202Met missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/27781387 UNC13D c.610A>G p.Met204Val missense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/16825436 UNC13D c.627del p.Val210Trpfs*39 frameshift Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/16278825, https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.640C>T p.Arg214* nonsense Yes Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/15466010, https://www.ncbi.nlm.nih.gov/pubmed/21248318, https://www.ncbi.nlm.nih.gov/pubmed/21152410 UNC13D c.684-1G>A Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.751C>T p.Gln251* nonsense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.753+3G>A Unknown splicing - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/21881043 UNC13D c.753+1G>T Unknown splicing Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/14622600, https://www.ncbi.nlm.nih.gov/pubmed/16278825 UNC13D c.754-1G>C Unknown splicing Yes Yes Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/15466010, https://www.ncbi.nlm.nih.gov/pubmed/21653941 UNC13D c.754-2A>G Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21755595 UNC13D c.756_757insAC p.Leu253Thrfs*76 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/28353193 UNC13D c.762del p.Cys255Alafs*73 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/27408432 UNC13D c.766C>T p.Arg256* nonsense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/14622600 UNC13D c.817C>T p.Arg273* nonsense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/16278825, https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.823C>T p.Gln275* nonsense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/27408432 UNC13D c.847A>G p.Ile283Val missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/23264592 UNC13D c.856_857insG p.Arg287Glufs*174 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.859-1G>C Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/24470399 UNC13D c.859-3C>T Unknown splicing - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.859-3C>A Unknown splicing Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/19023578, https://www.ncbi.nlm.nih.gov/pubmed/26419432 UNC13D c.869C>T p.Ser290Leu missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/16278825 UNC13D c.952-1G>A Unknown splicing Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/18492689, https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.990G>C p.Gln330His missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21653941 UNC13D c.1036G>A p.Asp346Asn missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/24916509 UNC13D c.1055+1G>A Unknown splicing Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.1061G>T p.Trp354Leu missense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/19466974 UNC13D c.1090del p.Leu364Trpfs*40 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/28750028 UNC13D c.1120C>A p.Pro374Thr missense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/25233452 UNC13D c.1145G>A p.Trp382* nonsense Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/17525286 UNC13D c.1148_1149insGG p.Ile383Metfs*22 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21755595 UNC13D c.1174-3C>G Unknown splicing - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.1193C>T p.Ser398Leu missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.1201T>A p.Ser401Thr missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.1202C>A p.Ser401Tyr missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.1208T>C p.Leu403Pro missense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/16278825 UNC13D c.1215C>G p.Tyr405* nonsense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21674762 UNC13D c.1225del p.Leu409Serfs*33 frameshift Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.1228A>C p.Ile410Leu missense - - - - https://www.ncbi.nlm.nih.gov/pubmed/21600143 UNC13D c.1232G>A p.Arg411Gln missense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/21600143, https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.1240C>T p.Arg414Cys missense Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/23560006, https://www.ncbi.nlm.nih.gov/pubmed/28848550 UNC13D c.1241G>T p.Arg414Leu missense Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/16825436 UNC13D c.1280G>A p.Arg427Gln missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29357941, https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.1299+1G>A Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29157204 UNC13D c.1369C>A p.Leu457Met missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21881043 UNC13D c.1387C>T p.Gln463* nonsense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.1388A>C p.Gln463Pro missense Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/23672263 UNC13D c.1389G>T p.Gln463His missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.1389+1G>A Unknown splicing Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/14622600 UNC13D c.1454C>T p.Pro485Leu missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.1545-1G>T Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/16278825 UNC13D c.1545-2A>G Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21152410 UNC13D c.1579C>T p.Arg527Trp missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/21881043 UNC13D c.1596+1G>C Unknown splicing Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/15466010, https://www.ncbi.nlm.nih.gov/pubmed/21653941 UNC13D c.1596+1del Unknown splicing - - - - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.1607G>T p.Arg536Leu missense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.1693del p.Glu565Serfs*7 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/20015888 UNC13D c.1723_1724insA p.Arg576Glufs*9 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/15466010 UNC13D c.1755_1756insT p.His586Serfs*31 frameshift - Yes - Yes https://www.ncbi.nlm.nih.gov/pubmed/14622600 UNC13D c.1760G>A p.Arg587His missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/16278825 UNC13D c.1787G>T p.Trp596Leu missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/28353193 UNC13D c.1799C>T p.Thr600Met missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21653941 UNC13D c.1803C>A p.Tyr601* nonsense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/21653941 UNC13D c.1807G>T p.Glu603* nonsense - - - - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.1820G>C p.Arg607Pro missense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/20823128 UNC13D c.1822_1833del p.Val608_Ala611del in-frame deletion Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/14622600 UNC13D c.1825C>T p.Gln609* nonsense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/24470399 UNC13D c.1828_1829insA p.Arg610Glnfs*7 frameshift - - - - https://www.ncbi.nlm.nih.gov/pubmed/19484379 UNC13D c.1845_1847dup p.Asp615dup duplication Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.1847A>G p.Glu616Gly missense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/16825436 UNC13D c.1848+1G>C Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/24470399 UNC13D c.1940T>C p.Leu647Pro missense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.1978_1979insATTACCG p.Val660Aspfs*47 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/31388699 UNC13D c.1982A>G p.Lys661Arg missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.1992+1G>C Unknown splicing - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/26684649 UNC13D c.1993-2A>G Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/20015888 UNC13D c.2030T>C p.Ile677Thr missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/24916509 UNC13D c.2037_2038insG p.Arg680Alafs*25 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/24470399 UNC13D c.2039G>C p.Arg680Pro missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/16825436, https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.2057C>A p.Ser686* nonsense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.2077C>T p.Gln693* nonsense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/31388699 UNC13D c.2135_2137del p.Ile712_Gly713delinsSer deletion-insertion - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/26684649 UNC13D c.2163G>A p.Trp721* nonsense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/16416131 UNC13D c.2174A>G p.Glu725Gly missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/21881043 UNC13D c.2176C>T p.Gln726* nonsense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/21931115 UNC13D c.2180G>A p.Arg727Gln missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.2191G>A p.Val731Met missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/16278825 UNC13D c.2206C>T p.Gln736* nonsense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29783935 UNC13D c.2212C>T p.Gln738* nonsense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/22736603, https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.2216_2239del p.Asn739_Gln746del in-frame deletion - - - - https://www.ncbi.nlm.nih.gov/pubmed/19484379 UNC13D c.2236C>T p.Gln746* nonsense - Yes - Yes https://www.ncbi.nlm.nih.gov/pubmed/26684649 UNC13D c.2240G>A p.Ser747Asn missense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/21881043 UNC13D c.2243C>T p.Ala748Val missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/24916509 UNC13D c.2258_2298del p.Gly753Valfs*22 frameshift - - - Yes https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.2295G>T p.Glu765Asp missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/27781387 UNC13D c.2295_2298del p.Glu765Aspfs*29 frameshift Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/23709445 UNC13D c.2296C>T p.Gln766* nonsense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/24470399 UNC13D c.2346_2349del p.Arg782Serfs*12 frameshift Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/16278825, https://www.ncbi.nlm.nih.gov/pubmed/17993578 UNC13D c.2367+1G>A Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/20015888 UNC13D c.2368-2A>G Unknown splicing - Yes - Yes https://www.ncbi.nlm.nih.gov/pubmed/20823128 UNC13D c.2381del p.Leu794Argfs*2 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21931115 UNC13D c.2436_2437insTTGA p.Asn813Leufs*49 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/28750028 UNC13D c.2437_2439delinsT p.Asn813Phefs*47 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.2447+61_2447+150del Unknown deep-intronic Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21881043 UNC13D c.2448-13G>A Unknown splicing Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/24825797 UNC13D c.2459T>G p.Leu820Arg missense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/22970278 UNC13D c.2473A>C p.Thr825Pro missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/19903216 UNC13D c.2477_2480del p.Leu826Glnfs*20 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.2485del p.Leu829Trpfs*18 frameshift Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/21653941 UNC13D c.2495C>T p.Ala832Val missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.2544del p.Ile848Metfs*67 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/26684649 UNC13D c.2553+5C>G Unknown splicing Yes Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/21881043, https://www.ncbi.nlm.nih.gov/pubmed/29357941, https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.2553+5C>T Unknown splicing - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/27781387 UNC13D c.2570T>G p.Phe857Cys missense - - - - https://www.ncbi.nlm.nih.gov/pubmed/16825436 UNC13D c.2575G>A p.Ala859Thr missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.2588G>A p.Gly863Asp missense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/21600143, https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.2599A>G p.Lys867Glu missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29754257 UNC13D c.2626-1G>A Unknown splicing Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/17993578 UNC13D c.2642T>C p.Leu881Pro missense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/21931115 UNC13D c.2650C>T p.Gln884* nonsense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/16825436 UNC13D c.2672T>C p.Leu891Pro missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/16278825 UNC13D c.2695C>T p.Arg899* nonsense Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/21248318, https://www.ncbi.nlm.nih.gov/pubmed/21755595 UNC13D c.2709+1G>A Unknown splicing Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/21674762, https://www.ncbi.nlm.nih.gov/pubmed/28353193, https://www.ncbi.nlm.nih.gov/pubmed/29157204 UNC13D c.2709+6G>T Unknown splicing - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/24916509 UNC13D c.2709+2T>A Unknown splicing Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/26684649 UNC13D c.2719_2722dup p.Ser908Tyrfs*3 frameshift - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/26684649 UNC13D c.2753C>A p.Ala918Asp missense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/28848550 UNC13D c.2782C>T p.Arg928Cys missense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/16825436 UNC13D c.2783G>C p.Arg928Pro missense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/17993578, https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.2828A>G p.Asn943Ser missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/24916509 UNC13D c.2831-13G>A Unknown splicing Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/24470399 UNC13D c.2896C>T p.Arg966Trp missense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/24916509 UNC13D c.2954+5G>A Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/20015888 UNC13D c.2955-2A>G Unknown splicing Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/26419432 UNC13D c.2955-4G>A Unknown splicing - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.2986G>A p.Gly996Arg missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/27781387 UNC13D c.2988_3013del p.Ala997Leufs*19 frameshift Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21755595 UNC13D c.2999T>C p.Leu1000Pro missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.3037dup p.Asp1013Glyfs*12 frameshift - - - - https://www.ncbi.nlm.nih.gov/pubmed/19484379 UNC13D c.3049G>A p.Glu1017Lys missense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.3067C>T p.Arg1023Cys missense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.3082del p.Leu1028* nonsense Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/16825436 UNC13D c.3131T>G p.Leu1044Arg missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/16278825 UNC13D c.3134C>T p.Thr1045Met missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29357941, https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.3151+431del Unknown deep-intronic Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/18492689 UNC13D c.3160A>G p.Ile1054Val missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/24916509 UNC13D c.3173T>C p.Leu1058Pro missense Yes - - - https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.3193C>T p.Arg1065* nonsense Yes - Yes - https://www.ncbi.nlm.nih.gov/pubmed/16278825, https://www.ncbi.nlm.nih.gov/pubmed/21248318 UNC13D c.3226_3227insG p.His1076Argfs*263 frameshift Yes - - Yes https://www.ncbi.nlm.nih.gov/pubmed/16825436 UNC13D c.3229C>T p.Arg1077Trp missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.3229_3235del p.Arg1077Serfs*48 frameshift - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D c.3232G>C p.Ala1078Pro missense - Yes - - https://www.ncbi.nlm.nih.gov/pubmed/24916509 UNC13D c.3259C>T p.Arg1087Trp missense - Yes Yes - https://www.ncbi.nlm.nih.gov/pubmed/27781387, https://www.ncbi.nlm.nih.gov/pubmed/29665027 UNC13D g.(73825638_73825663)_(73573065_73573090)inv Unknown large rearrangement Yes - Yes Yes https://www.ncbi.nlm.nih.gov/pubmed/21931115