| 15190974 | CV744724 | single nucleotide variant | NM_001039469.3(MARK2):c.55-5C>T | not provided [RCV000910109] | likely benign | 11 | 63895154 | 63895154 | Human | | name |
| 151717075 | CV1334846 | single nucleotide variant | NM_001039469.3(MARK2):c.404-1G>A | Developmental disorder [RCV001843802] | likely benign | 11 | 63898762 | 63898762 | Human | 1 | name |
| 156451082 | CV2402459 | single nucleotide variant | NM_001039469.3(MARK2):c.404-2A>C | not provided [RCV003123260] | uncertain significance | 11 | 63898761 | 63898761 | Human | | name |
| 407428223 | CV3412417 | single nucleotide variant | NM_001039469.3(MARK2):c.989-1G>A | Autism spectrum disorder [RCV004593557] | pathogenic | 11 | 63900956 | 63900956 | Human | 2 | name |
| 407428230 | CV3412423 | single nucleotide variant | NM_001039469.3(MARK2):c.235-2A>G | Autism spectrum disorder [RCV004593563] | likely pathogenic | 11 | 63895578 | 63895578 | Human | 2 | name |
| 407428246 | CV3412436 | single nucleotide variant | NM_001039469.3(MARK2):c.337+1G>T | Autism spectrum disorder [RCV004593576] | pathogenic | 11 | 63898281 | 63898281 | Human | 2 | name |
| 15190978 | CV777923 | single nucleotide variant | NM_001039469.3(MARK2):c.337+8C>G | not provided [RCV000954637] | likely benign | 11 | 63898288 | 63898288 | Human | | name |
| 407428224 | CV3412418 | single nucleotide variant | NM_001039469.3(MARK2):c.1101+1G>A | Autism spectrum disorder [RCV004593558] | pathogenic | 11 | 63901070 | 63901070 | Human | 2 | name |
| 407428226 | CV3412420 | single nucleotide variant | NM_001039469.3(MARK2):c.1514+2T>G | Autism spectrum disorder [RCV004593560] | likely pathogenic | 11 | 63903160 | 63903160 | Human | 2 | name |
| 407428234 | CV3412426 | single nucleotide variant | NM_001039469.3(MARK2):c.1934+1G>A | Autism spectrum disorder [RCV004593566]|MARK2-associated neurodevelopmental disorder [RCV005249702] | likely pathogenic | 11 | 63905044 | 63905044 | Human | 2 | name , trait |
| 596922065 | CV3529592 | single nucleotide variant | NM_001039469.3(MARK2):c.2007-1G>C | not provided [RCV004776468] | uncertain significance | 11 | 63908876 | 63908876 | Human | | name |
| 596922491 | CV3537248 | single nucleotide variant | NM_001039469.3(MARK2):c.1417-2A>G | not provided [RCV004787218] | uncertain significance | 11 | 63903059 | 63903059 | Human | | name |
| 8653158 | CV129733 | single nucleotide variant | NM_001039469.2(MARK2):c.54+6606A>T | Lung cancer [RCV000110220] | uncertain significance | 11 | 63846166 | 63846166 | Human | | name |
| 15137609 | CV768525 | single nucleotide variant | NM_001039469.3(MARK2):c.264A>G (p.Gln88=) | not provided [RCV000943267] | likely benign | 11 | 63895609 | 63895609 | Human | | name |
| 407428245 | CV3412435 | duplication | NM_001039469.3(MARK2):c.288dup (p.Leu97fs) | Autism spectrum disorder [RCV004593575] | pathogenic | 11 | 63895630 | 63895631 | Human | 2 | name |
| 15197660 | CV724547 | single nucleotide variant | NM_001039469.3(MARK2):c.924C>T (p.His308=) | not provided [RCV000890124] | benign | 11 | 63900815 | 63900815 | Human | | name |
| 15099211 | CV768526 | single nucleotide variant | NM_001039469.3(MARK2):c.783G>C (p.Arg261=) | not provided [RCV000936443] | likely benign | 11 | 63900573 | 63900573 | Human | | name |
| 156203261 | CV2399678 | single nucleotide variant | NM_001039469.3(MARK2):c.148A>G (p.Ile50Val) | not specified [RCV004245497] | uncertain significance | 11 | 63895252 | 63895252 | Human | | name |
| 405658425 | CV3281646 | single nucleotide variant | NM_001039469.3(MARK2):c.156C>G (p.Asn52Lys) | not specified [RCV004416467] | uncertain significance | 11 | 63895260 | 63895260 | Human | | name |
| 407428219 | CV3412414 | single nucleotide variant | NM_001039469.3(MARK2):c.211C>T (p.Arg71Ter) | Autism spectrum disorder [RCV004593554]|not provided [RCV005412669] | pathogenic|likely pathogenic | 11 | 63895315 | 63895315 | Human | 2 | name |
| 407428220 | CV3412415 | deletion | NM_001039469.3(MARK2):c.812del (p.Phe271fs) | Autism spectrum disorder [RCV004593555] | pathogenic | 11 | 63900601 | 63900601 | Human | 2 | name |
| 407428243 | CV3412433 | single nucleotide variant | NM_001039469.3(MARK2):c.239C>T (p.Ala80Val) | Autism spectrum disorder [RCV004593573] | likely pathogenic | 11 | 63895584 | 63895584 | Human | 2 | name |
| 596922456 | CV3537233 | deletion | NM_001039469.3(MARK2):c.370del (p.Thr124fs) | not provided [RCV004786229] | uncertain significance | 11 | 63898637 | 63898637 | Human | | name |
| 15171064 | CV712982 | single nucleotide variant | NM_001039469.3(MARK2):c.2175C>T (p.Ser725=) | not provided [RCV000972127] | benign | 11 | 63909045 | 63909045 | Human | | name |
| 15174947 | CV712983 | single nucleotide variant | NM_001039469.3(MARK2):c.2220G>A (p.Pro740=) | not provided [RCV000972830] | benign | 11 | 63909090 | 63909090 | Human | | name |
| 15169745 | CV724548 | single nucleotide variant | NM_001039469.3(MARK2):c.1377C>A (p.Pro459=) | not provided [RCV000883333] | benign | 11 | 63902743 | 63902743 | Human | | name |
| 156290097 | CV2299457 | single nucleotide variant | NM_001039469.3(MARK2):c.997G>A (p.Val333Met) | not specified [RCV004154536] | uncertain significance | 11 | 63900965 | 63900965 | Human | | name |
| 329391422 | CV2452328 | single nucleotide variant | NM_001039469.3(MARK2):c.398G>A (p.Ser133Asn) | not specified [RCV004272661] | uncertain significance | 11 | 63898668 | 63898668 | Human | | name |
| 401942674 | CV2839754 | single nucleotide variant | NM_001039469.3(MARK2):c.457C>T (p.Arg153Ter) | not provided [RCV003456618] | uncertain significance | 11 | 63898816 | 63898816 | Human | | name |
| 407428221 | CV3412416 | single nucleotide variant | NM_001039469.3(MARK2):c.905G>A (p.Arg302Gln) | Autism spectrum disorder [RCV004593556] | uncertain significance | 11 | 63900796 | 63900796 | Human | 2 | name |
| 407428225 | CV3412419 | duplication | NM_001039469.3(MARK2):c.1181dup (p.Val395fs) | Autism spectrum disorder [RCV004593559] | pathogenic | 11 | 63902275 | 63902276 | Human | 2 | name |
| 407428228 | CV3412421 | duplication | NM_001039469.3(MARK2):c.1516dup (p.Leu506fs) | Autism spectrum disorder [RCV004593561] | likely pathogenic | 11 | 63903985 | 63903986 | Human | 2 | name |
| 407428231 | CV3412424 | deletion | NM_001039469.3(MARK2):c.1769del (p.Gly590fs) | Autism spectrum disorder [RCV004593564] | pathogenic | 11 | 63904875 | 63904875 | Human | 2 | name |
| 407428232 | CV3412425 | duplication | NM_001039469.3(MARK2):c.1888dup (p.Ala630fs) | Autism spectrum disorder [RCV004593565]|not provided [RCV004787139] | pathogenic|uncertain significance | 11 | 63904991 | 63904992 | Human | 2 | name |
| 407428247 | CV3412437 | single nucleotide variant | NM_001039469.3(MARK2):c.403G>A (p.Gly135Arg) | Autism spectrum disorder [RCV004593577] | likely pathogenic | 11 | 63898673 | 63898673 | Human | 2 | name |
| 407428249 | CV3412438 | single nucleotide variant | NM_001039469.3(MARK2):c.757C>T (p.Gln253Ter) | Autism spectrum disorder [RCV004593578] | pathogenic | 11 | 63900099 | 63900099 | Human | 2 | name |
| 596922457 | CV3537234 | duplication | NM_001039469.3(MARK2):c.1765dup (p.Arg589fs) | not provided [RCV004786230] | uncertain significance | 11 | 63904869 | 63904870 | Human | | name |
| 596922484 | CV3537240 | single nucleotide variant | NM_001039469.3(MARK2):c.746C>A (p.Pro249His) | not provided [RCV004787210] | uncertain significance | 11 | 63900088 | 63900088 | Human | | name |
| 596922532 | CV3537268 | deletion | NM_001039469.3(MARK2):c.1027del (p.Gln343fs) | not provided [RCV004787238] | uncertain significance | 11 | 63900994 | 63900994 | Human | | name |
| 596922552 | CV3537278 | duplication | NM_001039469.3(MARK2):c.1036dup (p.Leu346fs) | not provided [RCV004787248] | uncertain significance | 11 | 63901003 | 63901004 | Human | | name |
| 596922562 | CV3537283 | duplication | NM_001039469.3(MARK2):c.1644dup (p.Thr549fs) | not provided [RCV004787253] | uncertain significance | 11 | 63904109 | 63904110 | Human | | name |
| 596922578 | CV3537292 | single nucleotide variant | NM_001039469.3(MARK2):c.433G>A (p.Gly145Ser) | not provided [RCV004787262] | uncertain significance | 11 | 63898792 | 63898792 | Human | | name |
| 616935817 | CV4015967 | single nucleotide variant | NM_001039469.3(MARK2):c.782G>A (p.Arg261Gln) | not provided [RCV005414831] | uncertain significance | 11 | 63900572 | 63900572 | Human | | name |
| 13706571 | CV538426 | deletion | NM_001039469.3(MARK2):c.1120del (p.Thr374fs) | Autism spectrum disorder [RCV004588086]|not provided [RCV000660627] | pathogenic|uncertain significance | 11 | 63902216 | 63902216 | Human | 2 | name |
| 40815844 | CV970414 | single nucleotide variant | NM_001039469.3(MARK2):c.581T>C (p.Phe194Ser) | Autism spectrum disorder [RCV004590287]|not provided [RCV001261929] | likely pathogenic|uncertain significance | 11 | 63899923 | 63899923 | Human | 2 | name |
| 40815843 | CV970415 | single nucleotide variant | NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter) | Autism spectrum disorder [RCV004590286]|not provided [RCV001261928] | pathogenic|uncertain significance | 11 | 63900795 | 63900795 | Human | 2 | name |
| 156238194 | CV2193616 | single nucleotide variant | NM_001039469.3(MARK2):c.1714G>A (p.Ala572Thr) | not specified [RCV004074221] | uncertain significance | 11 | 63904823 | 63904823 | Human | | name |
| 156322348 | CV2205007 | single nucleotide variant | NM_001039469.3(MARK2):c.2002C>T (p.Leu668Phe) | not specified [RCV004077624] | uncertain significance | 11 | 63908300 | 63908300 | Human | | name |
| 156077587 | CV2251569 | single nucleotide variant | NM_001039469.3(MARK2):c.1151C>A (p.Thr384Asn) | not specified [RCV004117522] | uncertain significance | 11 | 63902247 | 63902247 | Human | | name |
| 156193501 | CV2296983 | single nucleotide variant | NM_001039469.3(MARK2):c.1184T>C (p.Val395Ala) | not specified [RCV004150912] | uncertain significance | 11 | 63902280 | 63902280 | Human | | name |
| 156002303 | CV2347666 | single nucleotide variant | NM_001039469.3(MARK2):c.1166C>T (p.Pro389Leu) | not specified [RCV004200599] | uncertain significance | 11 | 63902262 | 63902262 | Human | | name |
| 156254518 | CV2359248 | single nucleotide variant | NM_001039469.3(MARK2):c.2361G>T (p.Lys787Asn) | not specified [RCV004212540] | uncertain significance | 11 | 63909231 | 63909231 | Human | | name |
| 155930889 | CV2361282 | single nucleotide variant | NM_001039469.3(MARK2):c.1294G>A (p.Ala432Thr) | not specified [RCV004218499] | uncertain significance | 11 | 63902660 | 63902660 | Human | | name |
| 155932454 | CV2400027 | single nucleotide variant | NM_001039469.3(MARK2):c.1898G>A (p.Ser633Asn) | not specified [RCV004246950] | uncertain significance | 11 | 63905007 | 63905007 | Human | | name |
| 329389226 | CV2448816 | single nucleotide variant | NM_001039469.3(MARK2):c.1544C>T (p.Thr515Met) | not specified [RCV004261504] | uncertain significance | 11 | 63904015 | 63904015 | Human | | name |
| 329395129 | CV2457885 | single nucleotide variant | NM_001039469.3(MARK2):c.1742C>G (p.Ala581Gly) | not specified [RCV004271478] | uncertain significance | 11 | 63904851 | 63904851 | Human | | name |
| 329393610 | CV2471998 | single nucleotide variant | NM_001039469.3(MARK2):c.1567T>A (p.Ser523Thr) | not specified [RCV004283153] | uncertain significance | 11 | 63904038 | 63904038 | Human | | name |
| 401756444 | CV2687152 | single nucleotide variant | NM_001039469.3(MARK2):c.2230G>A (p.Asp744Asn) | not specified [RCV004304452] | likely benign | 11 | 63909100 | 63909100 | Human | | name |
| 401720177 | CV2735651 | single nucleotide variant | NM_001039469.3(MARK2):c.1931G>T (p.Arg644Leu) | Seizure [RCV003311623] | uncertain significance | 11 | 63905040 | 63905040 | Human | 2 | name |
| 401878721 | CV2754797 | single nucleotide variant | NM_001039469.3(MARK2):c.2171A>C (p.Gln724Pro) | not specified [RCV004341276] | uncertain significance | 11 | 63909041 | 63909041 | Human | | name |
| 401893168 | CV2755927 | single nucleotide variant | NM_001039469.3(MARK2):c.2023A>G (p.Ser675Gly) | not specified [RCV004336016] | likely benign | 11 | 63908893 | 63908893 | Human | | name |
| 401891515 | CV2779225 | single nucleotide variant | NM_001039469.3(MARK2):c.1564G>C (p.Val522Leu) | not specified [RCV004350913] | uncertain significance | 11 | 63904035 | 63904035 | Human | | name |
| 405658427 | CV3281647 | single nucleotide variant | NM_001039469.3(MARK2):c.1639C>T (p.Pro547Ser) | not specified [RCV004416468] | uncertain significance | 11 | 63904110 | 63904110 | Human | | name |
| 407428229 | CV3412422 | single nucleotide variant | NM_001039469.3(MARK2):c.1750C>T (p.Arg584Ter) | Autism spectrum disorder [RCV004593562] | pathogenic | 11 | 63904859 | 63904859 | Human | 2 | name |
| 407428236 | CV3412428 | single nucleotide variant | NM_001039469.3(MARK2):c.1990C>T (p.Arg664Ter) | Autism spectrum disorder [RCV004593568] | likely pathogenic | 11 | 63908288 | 63908288 | Human | 2 | name |
| 407428239 | CV3412430 | single nucleotide variant | NM_001039469.3(MARK2):c.2239C>T (p.Gln747Ter) | Autism spectrum disorder [RCV004593570] | pathogenic | 11 | 63909109 | 63909109 | Human | 2 | name |
| 407428240 | CV3412431 | single nucleotide variant | NM_001039469.3(MARK2):c.2255T>C (p.Val752Ala) | Autism spectrum disorder [RCV004593571] | likely pathogenic | 11 | 63909125 | 63909125 | Human | 2 | name |
| 407428241 | CV3412432 | single nucleotide variant | NM_001039469.3(MARK2):c.2291G>C (p.Arg764Pro) | Autism spectrum disorder [RCV004593572] | likely pathogenic | 11 | 63909161 | 63909161 | Human | 2 | name |
| 407469250 | CV3456892 | single nucleotide variant | NM_001039469.3(MARK2):c.1771G>A (p.Val591Met) | not specified [RCV004636561] | uncertain significance | 11 | 63904880 | 63904880 | Human | | name |
| 596922482 | CV3537238 | single nucleotide variant | NM_001039469.3(MARK2):c.1180A>T (p.Lys394Ter) | not provided [RCV004787208] | uncertain significance | 11 | 63902276 | 63902276 | Human | | name |
| 596922553 | CV3537279 | single nucleotide variant | NM_001039469.3(MARK2):c.1801C>T (p.Gln601Ter) | not provided [RCV004787249] | uncertain significance | 11 | 63904910 | 63904910 | Human | | name |
| 596922558 | CV3537281 | duplication | NM_001039469.3(MARK2):c.1260dup (p.Asn421Ter) | not provided [RCV004787251] | uncertain significance | 11 | 63902625 | 63902626 | Human | | name |
| 596922564 | CV3537284 | single nucleotide variant | NM_001039469.3(MARK2):c.2081G>T (p.Arg694Leu) | not provided [RCV004787254] | uncertain significance | 11 | 63908951 | 63908951 | Human | | name |
| 596922566 | CV3537285 | single nucleotide variant | NM_001039469.3(MARK2):c.1807C>T (p.Arg603Ter) | not provided [RCV004787255] | uncertain significance | 11 | 63904916 | 63904916 | Human | | name |
| 597636580 | CV3697613 | single nucleotide variant | NM_001039469.3(MARK2):c.2353G>A (p.Glu785Lys) | not specified [RCV004940810] | uncertain significance | 11 | 63909223 | 63909223 | Human | | name |
| 597636585 | CV3697614 | single nucleotide variant | NM_001039469.3(MARK2):c.1007G>A (p.Gly336Asp) | not specified [RCV004940811] | uncertain significance | 11 | 63900975 | 63900975 | Human | | name |
| 598198929 | CV3985505 | single nucleotide variant | NM_001039469.3(MARK2):c.1946T>G (p.Phe649Cys) | not specified [RCV005375623] | uncertain significance | 11 | 63906099 | 63906099 | Human | | name |
| 598176949 | CV3985506 | single nucleotide variant | NM_001039469.3(MARK2):c.1000T>A (p.Ser334Thr) | not specified [RCV005371509] | uncertain significance | 11 | 63900968 | 63900968 | Human | | name |
| 598176955 | CV3985507 | single nucleotide variant | NM_001039469.3(MARK2):c.1559C>G (p.Ala520Gly) | not specified [RCV005371510] | uncertain significance | 11 | 63904030 | 63904030 | Human | | name |
| 598198939 | CV3985508 | single nucleotide variant | NM_001039469.3(MARK2):c.2072G>T (p.Arg691Leu) | not specified [RCV005375624] | uncertain significance | 11 | 63908942 | 63908942 | Human | | name |
| 598176960 | CV3985509 | single nucleotide variant | NM_001039469.3(MARK2):c.1706C>T (p.Ser569Phe) | not specified [RCV005371511] | uncertain significance | 11 | 63904815 | 63904815 | Human | | name |
| 15174203 | CV679106 | single nucleotide variant | NM_001163296.2(MARK2):c.1726G>C (p.Ala576Pro) | Esophageal atresia [RCV000984750] | uncertain significance | 11 | 63904997 | 63904997 | Human | 1 | name |
| 407428244 | CV3412434 | duplication | NM_001039469.3(MARK2):c.258_259dup (p.Thr87fs) | Autism spectrum disorder [RCV004593574] | likely pathogenic | 11 | 63895601 | 63895602 | Human | 2 | name |
| 596922504 | CV3537259 | deletion | NM_001039469.3(MARK2):c.530_531del (p.Lys177fs) | not provided [RCV004787229] | uncertain significance | 11 | 63899107 | 63899108 | Human | | name |
| 617153744 | CV4016829 | insertion | NM_001039469.3(MARK2):c.645_646insA (p.Ala216fs) | Autism [RCV005415921] | uncertain significance | 11 | 63899987 | 63899988 | Human | 2 | name |
| 407428235 | CV3412427 | deletion | NM_001039469.3(MARK2):c.1939_1940del (p.Leu647fs) | Autism spectrum disorder [RCV004593567]|Intellectual disability [RCV005410971] | likely pathogenic | 11 | 63906091 | 63906092 | Human | 4 | name |
| 407428237 | CV3412429 | deletion | NM_001039469.3(MARK2):c.2168_2169del (p.Cys723fs) | Autism spectrum disorder [RCV004593569] | pathogenic | 11 | 63909038 | 63909039 | Human | 2 | name |
| 596922536 | CV3537270 | microsatellite | NM_001039469.3(MARK2):c.1773_1774del (p.Ser592fs) | not provided [RCV004787240] | uncertain significance | 11 | 63904878 | 63904879 | Human | | name |
| 617148346 | CV4017143 | microsatellite | NM_001039469.3(MARK2):c.2277_2280del (p.Leu760fs) | not provided [RCV005416308] | not provided | 11 | 63909142 | 63909145 | Human | | name |
| 617154435 | CV4022536 | deletion | NM_001039469.3(MARK2):c.2296_2297del (p.Lys766fs) | not provided [RCV005429893] | uncertain significance | 11 | 63909166 | 63909167 | Human | | name |
| 596922523 | CV3537263 | microsatellite | NM_001039469.3(MARK2):c.1659_1660del (p.Cys553_Glu554delinsTer) | not provided [RCV004787233] | uncertain significance | 11 | 63904128 | 63904129 | Human | | name |