| 152981266 | CV1676724 | single nucleotide variant | NM_004947.5(DOCK3):c.162+5T>G | not specified [RCV002247788] | uncertain significance | 3 | 50841720 | 50841720 | Human | | name |
| 150494654 | CV1241439 | single nucleotide variant | NM_004947.5(DOCK3):c.1918-3T>C | DOCK3-related disorder [RCV003975809]|Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001658390]|not provided [RCV001655446] | benign | 3 | 51236342 | 51236342 | Human | 1 | name , trait , alternate_id |
| 401906379 | CV2799905 | single nucleotide variant | NM_004947.5(DOCK3):c.1037+1G>A | DOCK3-related disorder [RCV003421194] | likely pathogenic | 3 | 51160703 | 51160703 | Human | | name , trait , alternate_id |
| 405255849 | CV3208362 | single nucleotide variant | NM_004947.5(DOCK3):c.2548+6T>A | DOCK3-related disorder [RCV003939469] | benign | 3 | 51271013 | 51271013 | Human | | name , trait , alternate_id |
| 14349696 | CV583203 | single nucleotide variant | NM_004947.5(DOCK3):c.1038-2A>G | Global developmental delay [RCV001841880]|Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001253771] | pathogenic|likely pathogenic | 3 | 51208772 | 51208772 | Human | 4 | name |
| 14709974 | CV659969 | single nucleotide variant | NM_004947.5(DOCK3):c.1648-6C>T | DOCK3-related disorder [RCV003908123]|not provided [RCV000827575] | benign|likely benign | 3 | 51228655 | 51228655 | Human | 1 | name , trait , alternate_id |
| 39457155 | CV965833 | single nucleotide variant | NM_004947.5(DOCK3):c.5145+4C>T | DOCK3-related disorder [RCV003963159]|not specified [RCV001255572] | likely benign|uncertain significance | 3 | 51362001 | 51362001 | Human | 1 | name , trait , alternate_id |
| 405292478 | CV3196393 | single nucleotide variant | NM_004947.5(DOCK3):c.5412+10C>T | DOCK3-related disorder [RCV003964528] | likely benign | 3 | 51374597 | 51374597 | Human | | name , trait , alternate_id |
| 408371647 | CV3516882 | single nucleotide variant | NM_004947.5(DOCK3):c.3915+10A>G | DOCK3-related disorder [RCV004740913] | likely benign | 3 | 51341395 | 51341395 | Human | | name , trait , alternate_id |
| 8578680 | CV113068 | single nucleotide variant | NM_004947.4(DOCK3):c.1037+2657A>G | Lung cancer [RCV000093591] | uncertain significance | 3 | 51163359 | 51163359 | Human | | name |
| 156227778 | CV2212848 | deletion | NM_004947.5(DOCK3):c.5407_5412+16del | Inborn genetic diseases [RCV002712552] | uncertain significance | 3 | 51374580 | 51374601 | Human | 1 | name |
| 156278020 | CV2286699 | single nucleotide variant | NM_004947.5(DOCK3):c.7A>G (p.Thr3Ala) | Inborn genetic diseases [RCV002832729] | uncertain significance | 3 | 50675270 | 50675270 | Human | 1 | name |
| 405282258 | CV3216320 | single nucleotide variant | NM_004947.5(DOCK3):c.295T>C (p.Leu99=) | DOCK3-related disorder [RCV003956827] | likely benign | 3 | 50934057 | 50934057 | Human | | name , trait , alternate_id |
| 151353391 | CV1326497 | deletion | NM_004947.5(DOCK3):c.214del (p.Arg72fs) | not provided [RCV001816357] | pathogenic | 3 | 50890077 | 50890077 | Human | | name |
| 329361999 | CV2448201 | single nucleotide variant | NM_004947.5(DOCK3):c.41T>C (p.Ile14Thr) | Inborn genetic diseases [RCV003180687] | uncertain significance | 3 | 50778678 | 50778678 | Human | 1 | name |
| 401926443 | CV2827452 | single nucleotide variant | NM_004947.5(DOCK3):c.960G>A (p.Ala320=) | DOCK3-related disorder [RCV003980921]|not provided [RCV003437860] | likely benign | 3 | 51160625 | 51160625 | Human | 1 | name , trait , alternate_id |
| 405751090 | CV3237805 | single nucleotide variant | NM_004947.5(DOCK3):c.59C>T (p.Ser20Phe) | Inborn genetic diseases [RCV004381867] | uncertain significance | 3 | 50778696 | 50778696 | Human | 1 | name |
| 15139251 | CV734171 | single nucleotide variant | NM_004947.5(DOCK3):c.373C>T (p.Leu125=) | DOCK3-related disorder [RCV003895481]|not provided [RCV000899116] | benign | 3 | 51064505 | 51064505 | Human | 1 | name , trait , alternate_id |
| 153350003 | CV1693850 | single nucleotide variant | NM_004947.5(DOCK3):c.1116C>T (p.Ser372=) | DOCK3-related disorder [RCV003916438]|not provided [RCV002276439] | likely benign | 3 | 51208852 | 51208852 | Human | 1 | name , trait , alternate_id |
| 156081856 | CV2368847 | single nucleotide variant | NM_004947.5(DOCK3):c.271G>A (p.Ala91Thr) | Inborn genetic diseases [RCV003001341] | uncertain significance | 3 | 50934033 | 50934033 | Human | 1 | name |
| 401872317 | CV2779437 | single nucleotide variant | NM_004947.5(DOCK3):c.128A>T (p.Tyr43Phe) | Inborn genetic diseases [RCV003361615] | uncertain significance | 3 | 50841681 | 50841681 | Human | 1 | name |
| 401922272 | CV2827453 | single nucleotide variant | NM_004947.5(DOCK3):c.1584A>C (p.Ser528=) | not provided [RCV003433609] | likely benign | 3 | 51228025 | 51228025 | Human | | name |
| 401922273 | CV2827454 | single nucleotide variant | NM_004947.5(DOCK3):c.1977C>T (p.Tyr659=) | not provided [RCV003433610] | likely benign | 3 | 51236404 | 51236404 | Human | | name |
| 401926444 | CV2827455 | single nucleotide variant | NM_004947.5(DOCK3):c.2727C>T (p.Asp909=) | not provided [RCV003437861] | likely benign | 3 | 51277658 | 51277658 | Human | | name |
| 405290036 | CV3205878 | single nucleotide variant | NM_004947.5(DOCK3):c.2028C>T (p.Asp676=) | DOCK3-related disorder [RCV003962107] | likely benign | 3 | 51237516 | 51237516 | Human | | name , trait , alternate_id |
| 405853540 | CV3392830 | single nucleotide variant | NM_004947.5(DOCK3):c.1038G>A (p.Thr346=) | not specified [RCV004526556] | uncertain significance | 3 | 51208774 | 51208774 | Human | | name |
| 407456811 | CV3415984 | single nucleotide variant | NM_004947.5(DOCK3):c.1944C>G (p.Leu648=) | not provided [RCV004598861] | likely benign | 3 | 51236371 | 51236371 | Human | | name |
| 407505611 | CV3437776 | single nucleotide variant | NM_004947.5(DOCK3):c.228A>C (p.Glu76Asp) | Inborn genetic diseases [RCV004624419] | uncertain significance | 3 | 50933990 | 50933990 | Human | 1 | name |
| 596947361 | CV3548914 | single nucleotide variant | NM_004947.5(DOCK3):c.2766G>A (p.Ser922=) | not provided [RCV004811238] | likely benign | 3 | 51277697 | 51277697 | Human | | name |
| 596948185 | CV3549265 | single nucleotide variant | NM_004947.5(DOCK3):c.2034G>A (p.Lys678=) | not provided [RCV004812085] | likely benign | 3 | 51237522 | 51237522 | Human | | name |
| 597649784 | CV3659532 | single nucleotide variant | NM_004947.5(DOCK3):c.187C>T (p.His63Tyr) | Inborn genetic diseases [RCV004974429] | uncertain significance | 3 | 50890050 | 50890050 | Human | 1 | name |
| 597649804 | CV3659535 | single nucleotide variant | NM_004947.5(DOCK3):c.297G>C (p.Leu99Phe) | Inborn genetic diseases [RCV004974432] | uncertain significance | 3 | 50934059 | 50934059 | Human | 1 | name |
| 15126944 | CV734172 | single nucleotide variant | NM_004947.5(DOCK3):c.2277T>C (p.Ser759=) | DOCK3-related disorder [RCV003922887]|not provided [RCV000897019] | likely benign | 3 | 51260248 | 51260248 | Human | 1 | name , trait , alternate_id |
| 151353392 | CV1326498 | single nucleotide variant | NM_004947.5(DOCK3):c.5064G>A (p.Ala1688=) | DOCK3-related disorder [RCV003968569]|not provided [RCV001816358] | likely benign | 3 | 51361916 | 51361916 | Human | 1 | name , trait , alternate_id |
| 155641935 | CV1709992 | single nucleotide variant | NM_004947.5(DOCK3):c.5124G>A (p.Glu1708=) | DOCK3-related disorder [RCV003943350]|not provided [RCV002293092] | likely benign | 3 | 51361976 | 51361976 | Human | 1 | name , trait , alternate_id |
| 155976153 | CV2235998 | single nucleotide variant | NM_004947.5(DOCK3):c.514T>C (p.Ser172Pro) | Inborn genetic diseases [RCV002777290] | uncertain significance | 3 | 51075405 | 51075405 | Human | 1 | name |
| 156299313 | CV2244732 | single nucleotide variant | NM_004947.5(DOCK3):c.431G>A (p.Arg144Gln) | Inborn genetic diseases [RCV002748401] | uncertain significance | 3 | 51064563 | 51064563 | Human | 1 | name |
| 156260823 | CV2395577 | single nucleotide variant | NM_004947.5(DOCK3):c.406C>G (p.Gln136Glu) | Inborn genetic diseases [RCV002769435] | uncertain significance | 3 | 51064538 | 51064538 | Human | 1 | name |
| 243051115 | CV2415661 | single nucleotide variant | NM_004947.5(DOCK3):c.442G>A (p.Val148Met) | Inborn genetic diseases [RCV004621768]|Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV003148263] | uncertain significance | 3 | 51064574 | 51064574 | Human | 2 | name |
| 401719843 | CV2675699 | single nucleotide variant | NM_004947.5(DOCK3):c.505G>A (p.Val169Ile) | Inborn genetic diseases [RCV003243837] | uncertain significance | 3 | 51075396 | 51075396 | Human | 1 | name |
| 401766247 | CV2679621 | single nucleotide variant | NM_004947.5(DOCK3):c.868G>A (p.Val290Ile) | Inborn genetic diseases [RCV003259420] | uncertain significance | 3 | 51159283 | 51159283 | Human | 1 | name |
| 401720228 | CV2737201 | single nucleotide variant | NM_004947.5(DOCK3):c.602T>C (p.Met201Thr) | not provided [RCV003314140] | uncertain significance | 3 | 51090240 | 51090240 | Human | | name |
| 401720249 | CV2737205 | single nucleotide variant | NM_004947.5(DOCK3):c.3801G>A (p.Leu1267=) | not provided [RCV003314144] | uncertain significance | 3 | 51341271 | 51341271 | Human | | name |
| 401857918 | CV2763063 | single nucleotide variant | NM_004947.5(DOCK3):c.785C>T (p.Pro262Leu) | Inborn genetic diseases [RCV003341435] | uncertain significance | 3 | 51146587 | 51146587 | Human | 1 | name |
| 401926445 | CV2827456 | single nucleotide variant | NM_004947.5(DOCK3):c.3486A>G (p.Leu1162=) | not provided [RCV003437862] | likely benign | 3 | 51330221 | 51330221 | Human | | name |
| 401922274 | CV2827457 | single nucleotide variant | NM_004947.5(DOCK3):c.3549C>T (p.Arg1183=) | not provided [RCV003433611] | likely benign | 3 | 51333191 | 51333191 | Human | | name |
| 405264580 | CV3185341 | single nucleotide variant | NM_004947.5(DOCK3):c.4341C>T (p.Arg1447=) | not provided [RCV003885905] | likely benign | 3 | 51356180 | 51356180 | Human | | name |
| 405256795 | CV3186036 | single nucleotide variant | NM_004947.5(DOCK3):c.4089G>A (p.Lys1363=) | DOCK3-related disorder [RCV003968900]|not provided [RCV003885112] | likely benign | 3 | 51350374 | 51350374 | Human | 1 | name , trait , alternate_id |
| 405280901 | CV3190633 | single nucleotide variant | NM_004947.5(DOCK3):c.5175C>T (p.Gly1725=) | DOCK3-related disorder [RCV003907071] | likely benign | 3 | 51362556 | 51362556 | Human | | name , trait , alternate_id |
| 405292493 | CV3196473 | single nucleotide variant | NM_004947.5(DOCK3):c.5556A>C (p.Pro1852=) | DOCK3-related disorder [RCV003964542] | likely benign | 3 | 51380180 | 51380180 | Human | | name , trait , alternate_id |
| 405294081 | CV3203472 | single nucleotide variant | NM_004947.5(DOCK3):c.4086G>A (p.Arg1362=) | DOCK3-related disorder [RCV003934005]|not provided [RCV004598296] | likely benign | 3 | 51350371 | 51350371 | Human | 1 | name , trait , alternate_id |
| 405278968 | CV3212685 | single nucleotide variant | NM_004947.5(DOCK3):c.5610C>T (p.Ser1870=) | DOCK3-related disorder [RCV003954712] | likely benign | 3 | 51381076 | 51381076 | Human | | name , trait , alternate_id |
| 405258874 | CV3215132 | single nucleotide variant | NM_004947.5(DOCK3):c.5523C>T (p.Asp1841=) | DOCK3-related disorder [RCV003942186] | likely benign | 3 | 51380147 | 51380147 | Human | | name , trait , alternate_id |
| 405279797 | CV3217647 | single nucleotide variant | NM_004947.5(DOCK3):c.4788G>A (p.Gly1596=) | DOCK3-related disorder [RCV003977009]|not provided [RCV003992824] | likely benign | 3 | 51357981 | 51357981 | Human | 1 | name , trait , alternate_id |
| 405266152 | CV3221065 | single nucleotide variant | NM_004947.5(DOCK3):c.324A>C (p.Lys108Asn) | DOCK3-related disorder [RCV003969192]|Inborn genetic diseases [RCV004981150] | likely benign | 3 | 51064456 | 51064456 | Human | 2 | name , trait , alternate_id |
| 405701696 | CV3225948 | single nucleotide variant | NM_004947.5(DOCK3):c.551A>G (p.His184Arg) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV003989387] | uncertain significance | 3 | 51089244 | 51089244 | Human | 1 | name |
| 405751070 | CV3237809 | single nucleotide variant | NM_004947.5(DOCK3):c.628C>T (p.Arg210Trp) | Inborn genetic diseases [RCV004381871] | uncertain significance | 3 | 51090266 | 51090266 | Human | 1 | name |
| 407456003 | CV3415798 | single nucleotide variant | NM_004947.5(DOCK3):c.4185G>A (p.Pro1395=) | not provided [RCV004598675] | likely benign | 3 | 51354959 | 51354959 | Human | | name |
| 407453865 | CV3416406 | single nucleotide variant | NM_004947.5(DOCK3):c.633G>C (p.Met211Ile) | not provided [RCV004597664] | uncertain significance | 3 | 51090271 | 51090271 | Human | | name |
| 407505614 | CV3437777 | single nucleotide variant | NM_004947.5(DOCK3):c.347G>A (p.Arg116His) | Inborn genetic diseases [RCV004624420] | uncertain significance | 3 | 51064479 | 51064479 | Human | 1 | name |
| 408380657 | CV3501232 | single nucleotide variant | NM_004947.5(DOCK3):c.399C>G (p.His133Gln) | not provided [RCV004727321] | uncertain significance | 3 | 51064531 | 51064531 | Human | | name |
| 408370675 | CV3512238 | single nucleotide variant | NM_004947.5(DOCK3):c.3753C>T (p.Ala1251=) | DOCK3-related disorder [RCV004739954] | likely benign | 3 | 51339015 | 51339015 | Human | | name , trait , alternate_id |
| 597649713 | CV3659520 | single nucleotide variant | NM_004947.5(DOCK3):c.809G>A (p.Arg270Gln) | Inborn genetic diseases [RCV004974418] | uncertain significance | 3 | 51146611 | 51146611 | Human | 1 | name |
| 597649761 | CV3659528 | single nucleotide variant | NM_004947.5(DOCK3):c.598A>G (p.Thr200Ala) | Inborn genetic diseases [RCV004974425] | uncertain significance | 3 | 51090236 | 51090236 | Human | 1 | name |
| 597649808 | CV3659536 | single nucleotide variant | NM_004947.5(DOCK3):c.812T>C (p.Met271Thr) | Inborn genetic diseases [RCV004974433] | uncertain significance | 3 | 51146614 | 51146614 | Human | 1 | name |
| 597649836 | CV3659540 | single nucleotide variant | NM_004947.5(DOCK3):c.332T>C (p.Leu111Pro) | Inborn genetic diseases [RCV004974437] | uncertain significance | 3 | 51064464 | 51064464 | Human | 1 | name |
| 597649848 | CV3659542 | single nucleotide variant | NM_004947.5(DOCK3):c.779G>T (p.Gly260Val) | Inborn genetic diseases [RCV004974439] | uncertain significance | 3 | 51146581 | 51146581 | Human | 1 | name |
| 598174973 | CV3964448 | single nucleotide variant | NM_004947.5(DOCK3):c.610C>T (p.Arg204Cys) | Inborn genetic diseases [RCV005331767] | uncertain significance | 3 | 51090248 | 51090248 | Human | 1 | name |
| 598174981 | CV3964450 | single nucleotide variant | NM_004947.5(DOCK3):c.470T>C (p.Leu157Ser) | Inborn genetic diseases [RCV005331769] | uncertain significance | 3 | 51075361 | 51075361 | Human | 1 | name |
| 598174987 | CV3964451 | single nucleotide variant | NM_004947.5(DOCK3):c.599C>T (p.Thr200Ile) | Inborn genetic diseases [RCV005331770] | uncertain significance | 3 | 51090237 | 51090237 | Human | 1 | name |
| 13532592 | CV511504 | single nucleotide variant | NM_004947.5(DOCK3):c.382C>T (p.Gln128Ter) | Inborn genetic diseases [RCV000624345]|Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV000754620] | pathogenic|likely pathogenic | 3 | 51064514 | 51064514 | Human | 2 | name |
| 15174187 | CV679053 | single nucleotide variant | NM_004947.5(DOCK3):c.400C>G (p.Leu134Val) | Esophageal atresia [RCV000984735] | uncertain significance | 3 | 51064532 | 51064532 | Human | 1 | name |
| 15111100 | CV708948 | single nucleotide variant | NM_004947.5(DOCK3):c.5301C>T (p.Pro1767=) | DOCK3-related disorder [RCV003916038]|not provided [RCV000961036] | benign|likely benign | 3 | 51374476 | 51374476 | Human | 1 | name , trait , alternate_id |
| 15169695 | CV748394 | single nucleotide variant | NM_004947.5(DOCK3):c.5556A>T (p.Pro1852=) | not provided [RCV000927551] | likely benign | 3 | 51380180 | 51380180 | Human | | name |
| 126742542 | CV1016292 | single nucleotide variant | NM_004947.5(DOCK3):c.1394G>C (p.Gly465Ala) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001329976] | uncertain significance | 3 | 51227299 | 51227299 | Human | 1 | name |
| 126742548 | CV1016293 | single nucleotide variant | NM_004947.5(DOCK3):c.2249G>T (p.Gly750Val) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001329977] | uncertain significance | 3 | 51260220 | 51260220 | Human | 1 | name |
| 126911737 | CV1037417 | single nucleotide variant | NM_004947.5(DOCK3):c.2048G>A (p.Arg683Gln) | not provided [RCV001355698] | uncertain significance | 3 | 51237536 | 51237536 | Human | | name |
| 150335556 | CV1165685 | single nucleotide variant | NM_004947.5(DOCK3):c.1457G>A (p.Arg486His) | Inborn genetic diseases [RCV004980585]|not provided [RCV001531568] | uncertain significance | 3 | 51227362 | 51227362 | Human | 1 | name |
| 150529226 | CV1288780 | single nucleotide variant | NM_004947.5(DOCK3):c.2557C>T (p.Arg853Cys) | DOCK3-related disorder [RCV003931299]|not provided [RCV001727248] | likely benign | 3 | 51275087 | 51275087 | Human | 1 | name , trait , alternate_id |
| 150545560 | CV1315756 | single nucleotide variant | NM_004947.5(DOCK3):c.2002G>A (p.Val668Met) | Inborn genetic diseases [RCV004616779]|Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001784087] | uncertain significance | 3 | 51237490 | 51237490 | Human | 2 | name |
| 9589482 | CV166003 | single nucleotide variant | NM_004947.5(DOCK3):c.1153C>T (p.Arg385Cys) | not provided [RCV000144226] | uncertain significance|not provided | 3 | 51214148 | 51214148 | Human | | name |
| 156063160 | CV2199852 | single nucleotide variant | NM_004947.5(DOCK3):c.2148A>T (p.Glu716Asp) | Inborn genetic diseases [RCV002659801] | uncertain significance | 3 | 51246771 | 51246771 | Human | 1 | name |
| 155916869 | CV2202055 | single nucleotide variant | NM_004947.5(DOCK3):c.1709A>T (p.Glu570Val) | Inborn genetic diseases [RCV002682263] | uncertain significance | 3 | 51228722 | 51228722 | Human | 1 | name |
| 155973707 | CV2211082 | single nucleotide variant | NM_004947.5(DOCK3):c.1490T>C (p.Ile497Thr) | Inborn genetic diseases [RCV002687730] | uncertain significance | 3 | 51227395 | 51227395 | Human | 1 | name |
| 156058372 | CV2239207 | single nucleotide variant | NM_004947.5(DOCK3):c.1072G>A (p.Glu358Lys) | Inborn genetic diseases [RCV002782445] | uncertain significance | 3 | 51208808 | 51208808 | Human | 1 | name |
| 155963239 | CV2254531 | single nucleotide variant | NM_004947.5(DOCK3):c.2770G>A (p.Ala924Thr) | Inborn genetic diseases [RCV002817036] | uncertain significance | 3 | 51277701 | 51277701 | Human | 1 | name |
| 156364289 | CV2271884 | single nucleotide variant | NM_004947.5(DOCK3):c.1597G>A (p.Asp533Asn) | Inborn genetic diseases [RCV002813301] | uncertain significance | 3 | 51228038 | 51228038 | Human | 1 | name |
| 156186778 | CV2292416 | single nucleotide variant | NM_004947.5(DOCK3):c.1784C>G (p.Ser595Cys) | Inborn genetic diseases [RCV002873998] | uncertain significance | 3 | 51228797 | 51228797 | Human | 1 | name |
| 155941757 | CV2300912 | single nucleotide variant | NM_004947.5(DOCK3):c.2143G>A (p.Ala715Thr) | Inborn genetic diseases [RCV002879738] | uncertain significance | 3 | 51246766 | 51246766 | Human | 1 | name |
| 156049010 | CV2319279 | single nucleotide variant | NM_004947.5(DOCK3):c.2051C>A (p.Pro684His) | Inborn genetic diseases [RCV002949996] | uncertain significance | 3 | 51237539 | 51237539 | Human | 1 | name |
| 156335784 | CV2333577 | single nucleotide variant | NM_004947.5(DOCK3):c.2531G>A (p.Arg844His) | Inborn genetic diseases [RCV002964713] | uncertain significance | 3 | 51270990 | 51270990 | Human | 1 | name |
| 156073682 | CV2365469 | single nucleotide variant | NM_004947.5(DOCK3):c.1028A>G (p.Lys343Arg) | Inborn genetic diseases [RCV003000881] | uncertain significance | 3 | 51160693 | 51160693 | Human | 1 | name |
| 243058416 | CV2412271 | single nucleotide variant | NM_004947.5(DOCK3):c.1868T>C (p.Met623Thr) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV003146813] | uncertain significance | 3 | 51229560 | 51229560 | Human | 1 | name |
| 329367181 | CV2438833 | single nucleotide variant | NM_004947.5(DOCK3):c.2725G>A (p.Asp909Asn) | Inborn genetic diseases [RCV003208178] | uncertain significance | 3 | 51277656 | 51277656 | Human | 1 | name |
| 329393796 | CV2449864 | single nucleotide variant | NM_004947.5(DOCK3):c.1595G>A (p.Arg532His) | Inborn genetic diseases [RCV003193352] | uncertain significance | 3 | 51228036 | 51228036 | Human | 1 | name |
| 329390499 | CV2459295 | single nucleotide variant | NM_004947.5(DOCK3):c.1409A>G (p.Asn470Ser) | Inborn genetic diseases [RCV003216843] | uncertain significance | 3 | 51227314 | 51227314 | Human | 1 | name |
| 401781202 | CV2726455 | single nucleotide variant | NM_004947.5(DOCK3):c.1210G>T (p.Ala404Ser) | Inborn genetic diseases [RCV003308503] | uncertain significance | 3 | 51214205 | 51214205 | Human | 1 | name |
| 401724209 | CV2738030 | single nucleotide variant | NM_004947.5(DOCK3):c.2221C>T (p.Arg741Trp) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV003315202] | uncertain significance | 3 | 51260192 | 51260192 | Human | 1 | name |
| 401860739 | CV2776169 | single nucleotide variant | NM_004947.5(DOCK3):c.1854C>G (p.Phe618Leu) | Inborn genetic diseases [RCV003357521] | uncertain significance | 3 | 51229546 | 51229546 | Human | 1 | name |
| 401898988 | CV2785918 | single nucleotide variant | NM_004947.5(DOCK3):c.1715A>G (p.Tyr572Cys) | Inborn genetic diseases [RCV003377147] | uncertain significance | 3 | 51228728 | 51228728 | Human | 1 | name |
| 401938057 | CV2797554 | deletion | NM_004947.5(DOCK3):c.5941del (p.Arg1981fs) | DOCK3-related disorder [RCV003417161] | uncertain significance | 3 | 51381403 | 51381403 | Human | | name , trait , alternate_id |
| 401913576 | CV2797564 | deletion | NM_004947.5(DOCK3):c.4217del (p.Pro1406fs) | DOCK3-related disorder [RCV003427887] | likely pathogenic | 3 | 51354990 | 51354990 | Human | | name , trait , alternate_id |
| 401907511 | CV2800109 | single nucleotide variant | NM_004947.5(DOCK3):c.1084C>T (p.Arg362Ter) | DOCK3-related disorder [RCV003397245] | likely pathogenic | 3 | 51208820 | 51208820 | Human | | name , trait , alternate_id |
| 405867521 | CV2842292 | single nucleotide variant | NM_004947.5(DOCK3):c.2434G>A (p.Val812Met) | EBV-positive nodal T- and NK-cell lymphoma [RCV004560241] | likely benign | 3 | 51270893 | 51270893 | Human | | name |
| 405750285 | CV3237786 | single nucleotide variant | NM_004947.5(DOCK3):c.1318G>A (p.Val440Ile) | Inborn genetic diseases [RCV004381848] | uncertain significance | 3 | 51225714 | 51225714 | Human | 1 | name |
| 405750292 | CV3237787 | single nucleotide variant | NM_004947.5(DOCK3):c.1370T>C (p.Ile457Thr) | Inborn genetic diseases [RCV004381849] | uncertain significance | 3 | 51225766 | 51225766 | Human | 1 | name |
| 405750297 | CV3237788 | single nucleotide variant | NM_004947.5(DOCK3):c.1504G>T (p.Gly502Cys) | Inborn genetic diseases [RCV004381850] | uncertain significance | 3 | 51227409 | 51227409 | Human | 1 | name |
| 405750301 | CV3237789 | single nucleotide variant | NM_004947.5(DOCK3):c.1834C>G (p.Leu612Val) | Inborn genetic diseases [RCV004381851] | uncertain significance | 3 | 51229526 | 51229526 | Human | 1 | name |
| 405750309 | CV3237790 | single nucleotide variant | NM_004947.5(DOCK3):c.1888C>T (p.Arg630Trp) | Inborn genetic diseases [RCV004381852] | uncertain significance | 3 | 51229580 | 51229580 | Human | 1 | name |
| 405750316 | CV3237791 | single nucleotide variant | NM_004947.5(DOCK3):c.2183G>A (p.Arg728Gln) | Inborn genetic diseases [RCV004381853] | uncertain significance | 3 | 51246806 | 51246806 | Human | 1 | name |
| 405750322 | CV3237792 | single nucleotide variant | NM_004947.5(DOCK3):c.2237G>A (p.Arg746Gln) | Inborn genetic diseases [RCV004381854] | uncertain significance | 3 | 51260208 | 51260208 | Human | 1 | name |
| 407505625 | CV3437782 | single nucleotide variant | NM_004947.5(DOCK3):c.1936G>C (p.Asp646His) | Inborn genetic diseases [RCV004624425] | uncertain significance | 3 | 51236363 | 51236363 | Human | 1 | name |
| 597649681 | CV3659514 | single nucleotide variant | NM_004947.5(DOCK3):c.2179A>C (p.Met727Leu) | Inborn genetic diseases [RCV004974412] | uncertain significance | 3 | 51246802 | 51246802 | Human | 1 | name |
| 597649765 | CV3659529 | single nucleotide variant | NM_004947.5(DOCK3):c.2663A>G (p.Lys888Arg) | Inborn genetic diseases [RCV004974426] | uncertain significance | 3 | 51275193 | 51275193 | Human | 1 | name |
| 597649790 | CV3659533 | single nucleotide variant | NM_004947.5(DOCK3):c.1261C>T (p.Arg421Cys) | Inborn genetic diseases [RCV004974430] | uncertain significance | 3 | 51225657 | 51225657 | Human | 1 | name |
| 597649842 | CV3659541 | single nucleotide variant | NM_004947.5(DOCK3):c.2555G>A (p.Arg852His) | Inborn genetic diseases [RCV004974438] | uncertain significance | 3 | 51275085 | 51275085 | Human | 1 | name |
| 598174958 | CV3964445 | single nucleotide variant | NM_004947.5(DOCK3):c.1483A>G (p.Ile495Val) | Inborn genetic diseases [RCV005331764] | uncertain significance | 3 | 51227388 | 51227388 | Human | 1 | name |
| 598174964 | CV3964446 | single nucleotide variant | NM_004947.5(DOCK3):c.2659G>A (p.Val887Ile) | Inborn genetic diseases [RCV005331765] | uncertain significance | 3 | 51275189 | 51275189 | Human | 1 | name |
| 598174978 | CV3964449 | single nucleotide variant | NM_004947.5(DOCK3):c.2266T>G (p.Phe756Val) | Inborn genetic diseases [RCV005331768] | uncertain significance | 3 | 51260237 | 51260237 | Human | 1 | name |
| 598174992 | CV3964452 | single nucleotide variant | NM_004947.5(DOCK3):c.1700G>A (p.Cys567Tyr) | Inborn genetic diseases [RCV005331771] | uncertain significance | 3 | 51228713 | 51228713 | Human | 1 | name |
| 598174996 | CV3964453 | single nucleotide variant | NM_004947.5(DOCK3):c.2170C>G (p.Gln724Glu) | Inborn genetic diseases [RCV005331772] | uncertain significance | 3 | 51246793 | 51246793 | Human | 1 | name |
| 15113281 | CV720541 | single nucleotide variant | NM_004947.5(DOCK3):c.1862G>A (p.Arg621Gln) | not provided [RCV000894634] | benign | 3 | 51229554 | 51229554 | Human | | name |
| 8630891 | CV86046 | single nucleotide variant | NM_004947.4(DOCK3):c.1792C>T (p.Leu598Phe) | Malignant melanoma [RCV000066130] | not provided | 3 | 51228805 | 51228805 | Human | | name |
| 8630892 | CV86047 | single nucleotide variant | NM_004947.4(DOCK3):c.1903G>A (p.Glu635Lys) | Malignant melanoma [RCV000066131] | not provided | 3 | 51229595 | 51229595 | Human | | name |
| 38597135 | CV964724 | single nucleotide variant | NM_004947.5(DOCK3):c.1175G>A (p.Arg392Gln) | Inborn genetic diseases [RCV002570541]|Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001253774]|not provided [RCV001531398]|not specified [RCV002246241] | pathogenic|uncertain significance | 3 | 51214170 | 51214170 | Human | 2 | name |
| 126742551 | CV1016294 | single nucleotide variant | NM_004947.5(DOCK3):c.3637G>A (p.Glu1213Lys) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001329978] | uncertain significance | 3 | 51338384 | 51338384 | Human | 1 | name |
| 126742556 | CV1016295 | single nucleotide variant | NM_004947.5(DOCK3):c.4702T>G (p.Tyr1568Asp) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001329979] | likely pathogenic | 3 | 51357776 | 51357776 | Human | | name |
| 151353390 | CV1326496 | duplication | NM_004947.5(DOCK3):c.152_158dup (p.Gly55fs) | not provided [RCV001816356] | pathogenic | 3 | 50841704 | 50841705 | Human | | name |
| 155265274 | CV1695486 | single nucleotide variant | NM_004947.5(DOCK3):c.3770C>G (p.Ala1257Gly) | not provided [RCV002280218] | uncertain significance | 3 | 51341240 | 51341240 | Human | | name |
| 156170775 | CV2197937 | single nucleotide variant | NM_004947.5(DOCK3):c.6082G>C (p.Gly2028Arg) | Inborn genetic diseases [RCV002664710] | uncertain significance | 3 | 51381548 | 51381548 | Human | 1 | name |
| 156144864 | CV2208801 | single nucleotide variant | NM_004947.5(DOCK3):c.3746T>C (p.Leu1249Ser) | Inborn genetic diseases [RCV002697281] | uncertain significance | 3 | 51339008 | 51339008 | Human | 1 | name |
| 156068330 | CV2237043 | single nucleotide variant | NM_004947.5(DOCK3):c.6013C>T (p.Arg2005Cys) | Inborn genetic diseases [RCV002783019] | uncertain significance | 3 | 51381479 | 51381479 | Human | 1 | name |
| 156197799 | CV2237340 | single nucleotide variant | NM_004947.5(DOCK3):c.4007T>C (p.Met1336Thr) | Inborn genetic diseases [RCV002743244] | uncertain significance | 3 | 51350292 | 51350292 | Human | 1 | name |
| 155984730 | CV2247789 | single nucleotide variant | NM_004947.5(DOCK3):c.3464G>A (p.Ser1155Asn) | Inborn genetic diseases [RCV002778034] | uncertain significance | 3 | 51330199 | 51330199 | Human | 1 | name |
| 155989618 | CV2259718 | single nucleotide variant | NM_004947.5(DOCK3):c.4364G>A (p.Arg1455Gln) | Inborn genetic diseases [RCV002793565] | uncertain significance | 3 | 51356203 | 51356203 | Human | 1 | name |
| 156157952 | CV2262439 | single nucleotide variant | NM_004947.5(DOCK3):c.4418G>A (p.Ser1473Asn) | Inborn genetic diseases [RCV002827189] | uncertain significance | 3 | 51356408 | 51356408 | Human | 1 | name |
| 156274386 | CV2293803 | single nucleotide variant | NM_004947.5(DOCK3):c.4762G>A (p.Glu1588Lys) | Inborn genetic diseases [RCV002896110] | uncertain significance | 3 | 51357836 | 51357836 | Human | 1 | name |
| 156091173 | CV2300025 | single nucleotide variant | NM_004947.5(DOCK3):c.3442T>G (p.Ser1148Ala) | Inborn genetic diseases [RCV002869832] | uncertain significance | 3 | 51330177 | 51330177 | Human | 1 | name |
| 155906810 | CV2303385 | single nucleotide variant | NM_004947.5(DOCK3):c.4866G>A (p.Met1622Ile) | Inborn genetic diseases [RCV002901926] | uncertain significance | 3 | 51358059 | 51358059 | Human | 1 | name |
| 155918127 | CV2332942 | single nucleotide variant | NM_004947.5(DOCK3):c.5517C>G (p.His1839Gln) | Inborn genetic diseases [RCV002968991] | uncertain significance | 3 | 51380141 | 51380141 | Human | 1 | name |
| 155972712 | CV2335835 | single nucleotide variant | NM_004947.5(DOCK3):c.5330G>A (p.Arg1777His) | Inborn genetic diseases [RCV002973126] | uncertain significance | 3 | 51374505 | 51374505 | Human | 1 | name |
| 156383874 | CV2361716 | single nucleotide variant | NM_004947.5(DOCK3):c.5840C>G (p.Ser1947Cys) | Inborn genetic diseases [RCV002679281] | uncertain significance | 3 | 51381306 | 51381306 | Human | 1 | name |
| 156385633 | CV2364525 | single nucleotide variant | NM_004947.5(DOCK3):c.5884G>A (p.Val1962Ile) | Inborn genetic diseases [RCV002679692] | uncertain significance | 3 | 51381350 | 51381350 | Human | 1 | name |
| 156053691 | CV2388553 | single nucleotide variant | NM_004947.5(DOCK3):c.4577G>A (p.Ser1526Asn) | Inborn genetic diseases [RCV002759493] | uncertain significance | 3 | 51357035 | 51357035 | Human | 1 | name |
| 156063730 | CV2389405 | single nucleotide variant | NM_004947.5(DOCK3):c.5149G>A (p.Ala1717Thr) | Inborn genetic diseases [RCV002760077] | uncertain significance | 3 | 51362530 | 51362530 | Human | 1 | name |
| 156108274 | CV2390220 | single nucleotide variant | NM_004947.5(DOCK3):c.3164C>T (p.Thr1055Ile) | Inborn genetic diseases [RCV002739538] | uncertain significance | 3 | 51312546 | 51312546 | Human | 1 | name |
| 155964787 | CV2395878 | single nucleotide variant | NM_004947.5(DOCK3):c.5729G>A (p.Arg1910His) | Inborn genetic diseases [RCV002754344] | uncertain significance | 3 | 51381195 | 51381195 | Human | 1 | name |
| 156113568 | CV2397067 | single nucleotide variant | NM_004947.5(DOCK3):c.4445C>G (p.Thr1482Ser) | Inborn genetic diseases [RCV002739874] | likely benign|uncertain significance | 3 | 51356435 | 51356435 | Human | 1 | name |
| 329354750 | CV2448967 | single nucleotide variant | NM_004947.5(DOCK3):c.5962G>A (p.Asp1988Asn) | Inborn genetic diseases [RCV003202524] | uncertain significance | 3 | 51381428 | 51381428 | Human | 1 | name |
| 401718786 | CV2679307 | single nucleotide variant | NM_004947.5(DOCK3):c.5407G>A (p.Gly1803Arg) | Inborn genetic diseases [RCV003243485] | uncertain significance | 3 | 51374582 | 51374582 | Human | 1 | name |
| 401725729 | CV2687219 | single nucleotide variant | NM_004947.5(DOCK3):c.3967A>C (p.Ser1323Arg) | Inborn genetic diseases [RCV003245956] | uncertain significance | 3 | 51348903 | 51348903 | Human | 1 | name |
| 401782823 | CV2707503 | single nucleotide variant | NM_004947.5(DOCK3):c.5552C>T (p.Pro1851Leu) | Inborn genetic diseases [RCV003265959] | uncertain significance | 3 | 51380176 | 51380176 | Human | 1 | name |
| 401752998 | CV2720592 | single nucleotide variant | NM_004947.5(DOCK3):c.5095G>T (p.Gly1699Cys) | Inborn genetic diseases [RCV003296026]|not provided [RCV003883977] | uncertain significance | 3 | 51361947 | 51361947 | Human | 1 | name |
| 401881285 | CV2763246 | single nucleotide variant | NM_004947.5(DOCK3):c.5789C>A (p.Pro1930Gln) | Inborn genetic diseases [RCV003349920] | uncertain significance | 3 | 51381255 | 51381255 | Human | 1 | name |
| 401875312 | CV2789013 | single nucleotide variant | NM_004947.5(DOCK3):c.4861A>G (p.Met1621Val) | Inborn genetic diseases [RCV003383013] | uncertain significance | 3 | 51358054 | 51358054 | Human | 1 | name |
| 401881073 | CV2789483 | single nucleotide variant | NM_004947.5(DOCK3):c.6083G>C (p.Gly2028Ala) | Inborn genetic diseases [RCV003385225] | uncertain significance | 3 | 51381549 | 51381549 | Human | 1 | name |
| 401926447 | CV2827459 | single nucleotide variant | NM_004947.5(DOCK3):c.6058C>T (p.Arg2020Cys) | not provided [RCV003437863] | uncertain significance | 3 | 51381524 | 51381524 | Human | | name |
| 405709959 | CV3225642 | single nucleotide variant | NM_004947.5(DOCK3):c.3050C>G (p.Ser1017Cys) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV003990700] | uncertain significance | 3 | 51312036 | 51312036 | Human | 1 | name |
| 405750326 | CV3237793 | single nucleotide variant | NM_004947.5(DOCK3):c.3284T>C (p.Met1095Thr) | Inborn genetic diseases [RCV004381855] | uncertain significance | 3 | 51315010 | 51315010 | Human | 1 | name |
| 405750333 | CV3237794 | single nucleotide variant | NM_004947.5(DOCK3):c.3349A>T (p.Ile1117Phe) | Inborn genetic diseases [RCV004381856] | uncertain significance | 3 | 51315075 | 51315075 | Human | 1 | name |
| 405750339 | CV3237795 | single nucleotide variant | NM_004947.5(DOCK3):c.3381A>T (p.Arg1127Ser) | Inborn genetic diseases [RCV004381857] | uncertain significance | 3 | 51315107 | 51315107 | Human | 1 | name |
| 405751152 | CV3237796 | single nucleotide variant | NM_004947.5(DOCK3):c.3412G>A (p.Glu1138Lys) | Inborn genetic diseases [RCV004381858] | uncertain significance | 3 | 51330147 | 51330147 | Human | 1 | name |
| 405751145 | CV3237797 | single nucleotide variant | NM_004947.5(DOCK3):c.3835C>T (p.Leu1279Phe) | Inborn genetic diseases [RCV004381859] | uncertain significance | 3 | 51341305 | 51341305 | Human | 1 | name |
| 405751134 | CV3237798 | single nucleotide variant | NM_004947.5(DOCK3):c.4273C>G (p.Pro1425Ala) | Inborn genetic diseases [RCV004381860] | uncertain significance | 3 | 51356112 | 51356112 | Human | 1 | name |
| 405751126 | CV3237799 | single nucleotide variant | NM_004947.5(DOCK3):c.5360G>A (p.Arg1787Gln) | Inborn genetic diseases [RCV004381861] | uncertain significance | 3 | 51374535 | 51374535 | Human | 1 | name |
| 405751121 | CV3237800 | single nucleotide variant | NM_004947.5(DOCK3):c.5365C>T (p.Arg1789Cys) | Inborn genetic diseases [RCV004381862] | uncertain significance | 3 | 51374540 | 51374540 | Human | 1 | name |
| 405751114 | CV3237801 | single nucleotide variant | NM_004947.5(DOCK3):c.5578C>T (p.Arg1860Cys) | Inborn genetic diseases [RCV004381863] | uncertain significance | 3 | 51380202 | 51380202 | Human | 1 | name |
| 405751109 | CV3237802 | single nucleotide variant | NM_004947.5(DOCK3):c.5792C>T (p.Pro1931Leu) | Inborn genetic diseases [RCV004381864] | uncertain significance | 3 | 51381258 | 51381258 | Human | 1 | name |
| 405751102 | CV3237803 | single nucleotide variant | NM_004947.5(DOCK3):c.5945T>G (p.Leu1982Arg) | Inborn genetic diseases [RCV004381865] | uncertain significance | 3 | 51381411 | 51381411 | Human | 1 | name |
| 405751096 | CV3237804 | single nucleotide variant | NM_004947.5(DOCK3):c.5981G>C (p.Arg1994Pro) | Inborn genetic diseases [RCV004381866] | uncertain significance | 3 | 51381447 | 51381447 | Human | 1 | name |
| 405751084 | CV3237806 | single nucleotide variant | NM_004947.5(DOCK3):c.6014G>A (p.Arg2005His) | Inborn genetic diseases [RCV004381868] | uncertain significance | 3 | 51381480 | 51381480 | Human | 1 | name |
| 405751079 | CV3237807 | single nucleotide variant | NM_004947.5(DOCK3):c.6040G>A (p.Ala2014Thr) | Inborn genetic diseases [RCV004381869] | likely benign | 3 | 51381506 | 51381506 | Human | 1 | name |
| 405751073 | CV3237808 | single nucleotide variant | NM_004947.5(DOCK3):c.6080G>A (p.Arg2027Gln) | Inborn genetic diseases [RCV004381870] | uncertain significance | 3 | 51381546 | 51381546 | Human | 1 | name |
| 407505604 | CV3437773 | single nucleotide variant | NM_004947.5(DOCK3):c.3763A>G (p.Thr1255Ala) | Inborn genetic diseases [RCV004624416] | uncertain significance | 3 | 51339025 | 51339025 | Human | 1 | name |
| 407505607 | CV3437774 | single nucleotide variant | NM_004947.5(DOCK3):c.5948C>T (p.Pro1983Leu) | Inborn genetic diseases [RCV004624417] | uncertain significance | 3 | 51381414 | 51381414 | Human | 1 | name |
| 407505609 | CV3437775 | single nucleotide variant | NM_004947.5(DOCK3):c.5972T>A (p.Val1991Glu) | Inborn genetic diseases [RCV004624418] | uncertain significance | 3 | 51381438 | 51381438 | Human | 1 | name |
| 407505617 | CV3437778 | single nucleotide variant | NM_004947.5(DOCK3):c.5560C>A (p.Leu1854Ile) | Inborn genetic diseases [RCV004624421] | uncertain significance | 3 | 51380184 | 51380184 | Human | 1 | name |
| 407505619 | CV3437779 | single nucleotide variant | NM_004947.5(DOCK3):c.4402G>A (p.Glu1468Lys) | Inborn genetic diseases [RCV004624422] | uncertain significance | 3 | 51356241 | 51356241 | Human | 1 | name |
| 407505621 | CV3437780 | single nucleotide variant | NM_004947.5(DOCK3):c.5848G>A (p.Ala1950Thr) | Inborn genetic diseases [RCV004624423] | uncertain significance | 3 | 51381314 | 51381314 | Human | 1 | name |
| 407505623 | CV3437781 | single nucleotide variant | NM_004947.5(DOCK3):c.5795A>G (p.Tyr1932Cys) | Inborn genetic diseases [RCV004624424] | uncertain significance | 3 | 51381261 | 51381261 | Human | 1 | name |
| 407505628 | CV3437783 | single nucleotide variant | NM_004947.5(DOCK3):c.5915C>T (p.Ala1972Val) | Inborn genetic diseases [RCV004624426] | uncertain significance | 3 | 51381381 | 51381381 | Human | 1 | name |
| 597649687 | CV3659515 | single nucleotide variant | NM_004947.5(DOCK3):c.3583C>T (p.Arg1195Cys) | Inborn genetic diseases [RCV004974413] | uncertain significance | 3 | 51333225 | 51333225 | Human | 1 | name |
| 597649695 | CV3659516 | single nucleotide variant | NM_004947.5(DOCK3):c.5033G>A (p.Arg1678His) | Inborn genetic diseases [RCV004974414] | uncertain significance | 3 | 51361885 | 51361885 | Human | 1 | name |
| 597649703 | CV3659518 | single nucleotide variant | NM_004947.5(DOCK3):c.3968G>A (p.Ser1323Asn) | Inborn genetic diseases [RCV004974416] | uncertain significance | 3 | 51348904 | 51348904 | Human | 1 | name |
| 597649709 | CV3659519 | single nucleotide variant | NM_004947.5(DOCK3):c.6028C>G (p.Pro2010Ala) | Inborn genetic diseases [RCV004974417] | uncertain significance | 3 | 51381494 | 51381494 | Human | 1 | name |
| 597649720 | CV3659521 | single nucleotide variant | NM_004947.5(DOCK3):c.3548G>A (p.Arg1183His) | Inborn genetic diseases [RCV004974419] | uncertain significance | 3 | 51333190 | 51333190 | Human | 1 | name |
| 597649728 | CV3659522 | single nucleotide variant | NM_004947.5(DOCK3):c.4868G>A (p.Arg1623Gln) | Inborn genetic diseases [RCV004974420] | uncertain significance | 3 | 51358061 | 51358061 | Human | 1 | name |
| 597649736 | CV3659523 | single nucleotide variant | NM_004947.5(DOCK3):c.5266A>G (p.Ile1756Val) | Inborn genetic diseases [RCV004974421] | uncertain significance | 3 | 51362647 | 51362647 | Human | 1 | name |
| 597649742 | CV3659524 | single nucleotide variant | NM_004947.5(DOCK3):c.5821G>C (p.Glu1941Gln) | Inborn genetic diseases [RCV004974422] | uncertain significance | 3 | 51381287 | 51381287 | Human | 1 | name |
| 597649747 | CV3659525 | single nucleotide variant | NM_004947.5(DOCK3):c.4729G>A (p.Glu1577Lys) | Inborn genetic diseases [RCV004974423] | uncertain significance | 3 | 51357803 | 51357803 | Human | 1 | name |
| 597649772 | CV3659530 | single nucleotide variant | NM_004947.5(DOCK3):c.3085G>A (p.Asp1029Asn) | Inborn genetic diseases [RCV004974427] | uncertain significance | 3 | 51312071 | 51312071 | Human | 1 | name |
| 597649778 | CV3659531 | single nucleotide variant | NM_004947.5(DOCK3):c.5545G>A (p.Asp1849Asn) | Inborn genetic diseases [RCV004974428] | uncertain significance | 3 | 51380169 | 51380169 | Human | 1 | name |
| 597649798 | CV3659534 | single nucleotide variant | NM_004947.5(DOCK3):c.5521G>A (p.Asp1841Asn) | Inborn genetic diseases [RCV004974431] | uncertain significance | 3 | 51380145 | 51380145 | Human | 1 | name |
| 597649814 | CV3659537 | single nucleotide variant | NM_004947.5(DOCK3):c.4976C>T (p.Pro1659Leu) | Inborn genetic diseases [RCV004974434] | uncertain significance | 3 | 51360602 | 51360602 | Human | 1 | name |
| 597649830 | CV3659539 | single nucleotide variant | NM_004947.5(DOCK3):c.3278C>T (p.Pro1093Leu) | Inborn genetic diseases [RCV004974436] | uncertain significance | 3 | 51315004 | 51315004 | Human | 1 | name |
| 597650253 | CV3659543 | single nucleotide variant | NM_004947.5(DOCK3):c.4142A>G (p.Glu1381Gly) | Inborn genetic diseases [RCV004974440] | uncertain significance | 3 | 51354916 | 51354916 | Human | 1 | name |
| 597650245 | CV3659544 | single nucleotide variant | NM_004947.5(DOCK3):c.4069G>A (p.Val1357Ile) | Inborn genetic diseases [RCV004974441] | uncertain significance | 3 | 51350354 | 51350354 | Human | 1 | name |
| 598174953 | CV3964444 | single nucleotide variant | NM_004947.5(DOCK3):c.6043A>G (p.Lys2015Glu) | Inborn genetic diseases [RCV005331763] | uncertain significance | 3 | 51381509 | 51381509 | Human | 1 | name |
| 598174968 | CV3964447 | single nucleotide variant | NM_004947.5(DOCK3):c.4034T>C (p.Met1345Thr) | Inborn genetic diseases [RCV005331766] | uncertain significance | 3 | 51350319 | 51350319 | Human | 1 | name |
| 598174999 | CV3964454 | single nucleotide variant | NM_004947.5(DOCK3):c.3642T>G (p.Asn1214Lys) | Inborn genetic diseases [RCV005331773] | uncertain significance | 3 | 51338389 | 51338389 | Human | 1 | name |
| 598175005 | CV3964455 | single nucleotide variant | NM_004947.5(DOCK3):c.5452G>A (p.Gly1818Arg) | Inborn genetic diseases [RCV005331774] | uncertain significance | 3 | 51375787 | 51375787 | Human | 1 | name |
| 598175010 | CV3964456 | single nucleotide variant | NM_004947.5(DOCK3):c.5915C>A (p.Ala1972Glu) | Inborn genetic diseases [RCV005331775] | uncertain significance | 3 | 51381381 | 51381381 | Human | 1 | name |
| 598175013 | CV3964457 | single nucleotide variant | NM_004947.5(DOCK3):c.3593A>C (p.Glu1198Ala) | Inborn genetic diseases [RCV005331776] | uncertain significance | 3 | 51333235 | 51333235 | Human | 1 | name |
| 598175018 | CV3964458 | single nucleotide variant | NM_004947.5(DOCK3):c.3094G>C (p.Val1032Leu) | Inborn genetic diseases [RCV005331777] | uncertain significance | 3 | 51312476 | 51312476 | Human | 1 | name |
| 598175023 | CV3964459 | single nucleotide variant | NM_004947.5(DOCK3):c.4514G>A (p.Ser1505Asn) | Inborn genetic diseases [RCV005331778] | uncertain significance | 3 | 51356972 | 51356972 | Human | 1 | name |
| 13706565 | CV538359 | single nucleotide variant | NM_004947.5(DOCK3):c.5020A>T (p.Met1674Leu) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001253775]|not provided [RCV000660577] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 3 | 51361872 | 51361872 | Human | 1 | name |
| 38496381 | CV953560 | single nucleotide variant | NM_004947.5(DOCK3):c.4801G>A (p.Glu1601Lys) | not provided [RCV001242528] | uncertain significance | 3 | 51357994 | 51357994 | Human | | name |
| 38496383 | CV953561 | single nucleotide variant | NM_004947.5(DOCK3):c.4958C>T (p.Ser1653Phe) | not provided [RCV001242529] | uncertain significance | 3 | 51360584 | 51360584 | Human | | name |
| 38597134 | CV964723 | single nucleotide variant | NM_004947.5(DOCK3):c.3887A>G (p.Lys1296Arg) | Inborn genetic diseases [RCV002570540]|Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001253773]|not provided [RCV001531569] | pathogenic|uncertain significance | 3 | 51341357 | 51341357 | Human | 2 | name |
| 39457154 | CV965832 | single nucleotide variant | NM_004947.5(DOCK3):c.4825C>T (p.Arg1609Trp) | Inborn genetic diseases [RCV004035351]|not specified [RCV001255571] | uncertain significance | 3 | 51358018 | 51358018 | Human | 1 | name |
| 40815534 | CV970775 | single nucleotide variant | NM_004947.5(DOCK3):c.3740T>C (p.Met1247Thr) | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001262981] | uncertain significance | 3 | 51339002 | 51339002 | Human | 1 | name |
| 40888017 | CV973381 | single nucleotide variant | NM_004947.5(DOCK3):c.3216G>A (p.Met1072Ile) | Inborn genetic diseases [RCV001267542] | uncertain significance | 3 | 51312865 | 51312865 | Human | 1 | name |
| 401922275 | CV2827458 | microsatellite | NM_004947.5(DOCK3):c.5341TTG[1] (p.Leu1783del) | DOCK3-related disorder [RCV003929130]|not provided [RCV003433612] | likely benign|uncertain significance | 3 | 51374514 | 51374516 | Human | | name , trait , alternate_id |
| 408370312 | CV3509723 | duplication | NM_004947.5(DOCK3):c.2535_2538dup (p.Ser847fs) | DOCK3-related disorder [RCV004739259] | likely pathogenic | 3 | 51270992 | 51270993 | Human | | name , trait , alternate_id |
| 597649698 | CV3659517 | deletion | NM_004947.5(DOCK3):c.1766_1767del (p.Lys589fs) | Inborn genetic diseases [RCV004974415] | pathogenic | 3 | 51228778 | 51228779 | Human | 1 | name |
| 14349694 | CV583204 | deletion | NM_004947.5(DOCK3):c.3107_3110del (p.Tyr1036fs) | Global developmental delay [RCV001841879]|Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia [RCV001253772] | pathogenic | 3 | 51312486 | 51312489 | Human | 4 | name |
| 401919510 | CV2798264 | deletion | NM_004947.5(DOCK3):c.33del (p.Gly11_Val12insTer) | DOCK3-related disorder [RCV003402286] | uncertain significance | 3 | 50675296 | 50675296 | Human | | name , trait , alternate_id |
