| 153305669 | CV1688722 | single nucleotide variant | NM_014515.7(CNOT2):c.-9C>T | not specified [RCV002266461] | uncertain significance | 12 | 70278218 | 70278218 | Human | | name |
| 405283678 | CV3217228 | single nucleotide variant | NM_014516.4(CNOT3):c.*5G>A | CNOT3-related disorder [RCV003979315] | likely benign | 19 | 54155412 | 54155412 | Human | | name , trait , alternate_id |
| 150475664 | CV1279101 | single nucleotide variant | NM_016284.5(CNOT1):c.*82G>A | not provided [RCV001713873] | benign | 16 | 58520876 | 58520876 | Human | | name |
| 155955089 | CV1936289 | single nucleotide variant | NM_014516.4(CNOT3):c.-49G>A | not provided [RCV002511953] | benign|likely benign | 19 | 54142930 | 54142930 | Human | | name |
| 156136110 | CV2032728 | single nucleotide variant | NM_014516.4(CNOT3):c.25+4C>T | not provided [RCV002740735] | benign|likely benign | 19 | 54143007 | 54143007 | Human | | name |
| 243059114 | CV2415710 | single nucleotide variant | NM_014516.4(CNOT3):c.94-3C>G | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003148317] | uncertain significance | 19 | 54143439 | 54143439 | Human | 1 | name |
| 401929174 | CV2818741 | single nucleotide variant | NM_014516.4(CNOT3):c.93+4C>T | not provided [RCV003407102] | uncertain significance | 19 | 54143190 | 54143190 | Human | | name |
| 405264536 | CV3185333 | single nucleotide variant | NM_014515.7(CNOT2):c.48+7C>T | not provided [RCV003885897] | likely benign | 12 | 70278281 | 70278281 | Human | | name |
| 408394461 | CV3518279 | single nucleotide variant | NM_014516.4(CNOT3):c.26-7T>A | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004759602] | uncertain significance | 19 | 54143112 | 54143112 | Human | 1 | name |
| 596927655 | CV3532651 | single nucleotide variant | NM_014515.7(CNOT2):c.49-2A>C | not provided [RCV004778749] | uncertain significance | 12 | 70310893 | 70310893 | Human | | name |
| 596946886 | CV3546943 | single nucleotide variant | NM_014516.4(CNOT3):c.26-2A>G | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810749] | likely pathogenic | 19 | 54143117 | 54143117 | Human | 1 | name |
| 597656796 | CV3552338 | single nucleotide variant | NM_014516.4(CNOT3):c.94-6C>A | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004821196] | uncertain significance | 19 | 54143436 | 54143436 | Human | 1 | name |
| 151236096 | CV1319527 | single nucleotide variant | NM_016284.5(CNOT1):c.638-1G>A | not provided [RCV001797472] | pathogenic | 16 | 58585507 | 58585507 | Human | | name |
| 152980005 | CV1675831 | single nucleotide variant | NM_014516.4(CNOT3):c.-50-9T>G | not provided [RCV002244422] | uncertain significance | 19 | 54142920 | 54142920 | Human | | name |
| 155794888 | CV1861112 | single nucleotide variant | NM_016284.5(CNOT1):c.434-2A>G | Vissers-Bodmer syndrome [RCV002468825] | pathogenic | 16 | 58586750 | 58586750 | Human | 1 | name |
| 156132943 | CV2022820 | single nucleotide variant | NM_014516.4(CNOT3):c.93+13A>G | not provided [RCV002740632] | benign | 19 | 54143199 | 54143199 | Human | | name |
| 156054975 | CV2023812 | single nucleotide variant | NM_016284.5(CNOT1):c.638-4T>A | not provided [RCV002736634] | likely benign | 16 | 58585510 | 58585510 | Human | | name |
| 156255934 | CV2025934 | single nucleotide variant | NM_016284.5(CNOT1):c.806+4G>C | not provided [RCV002746147] | uncertain significance | 16 | 58585334 | 58585334 | Human | | name |
| 156136707 | CV2032751 | single nucleotide variant | NM_014516.4(CNOT3):c.387+9G>T | not provided [RCV002740755] | benign | 19 | 54144143 | 54144143 | Human | | name |
| 156136961 | CV2032761 | single nucleotide variant | NM_014516.4(CNOT3):c.895-4G>T | not provided [RCV002740764] | likely benign | 19 | 54148144 | 54148144 | Human | | name |
| 156181975 | CV2058698 | single nucleotide variant | NM_016284.5(CNOT1):c.103-1G>C | not provided [RCV002828333] | uncertain significance | 16 | 58588907 | 58588907 | Human | | name |
| 156068889 | CV2065688 | single nucleotide variant | NM_016284.5(CNOT1):c.806+4G>A | not provided [RCV002847012] | uncertain significance | 16 | 58585334 | 58585334 | Human | | name |
| 156351279 | CV2069632 | single nucleotide variant | NM_014516.4(CNOT3):c.704-8C>T | not provided [RCV002811806] | likely benign | 19 | 54145902 | 54145902 | Human | | name |
| 155984789 | CV2094721 | single nucleotide variant | NM_016284.5(CNOT1):c.637+3A>G | not provided [RCV002907872] | likely benign | 16 | 58586542 | 58586542 | Human | | name |
| 156224990 | CV2168602 | single nucleotide variant | NM_014516.4(CNOT3):c.895-6C>A | not provided [RCV003042866] | likely benign | 19 | 54148142 | 54148142 | Human | | name |
| 156435183 | CV2403433 | single nucleotide variant | NM_014516.4(CNOT3):c.483+5G>A | Autism spectrum disorder [RCV003127369] | likely benign | 19 | 54144337 | 54144337 | Human | 2 | name |
| 243058471 | CV2404909 | single nucleotide variant | NM_014516.4(CNOT3):c.894+9G>T | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005417573] | uncertain significance | 19 | 54146666 | 54146666 | Human | 1 | name |
| 401740344 | CV2738706 | single nucleotide variant | NM_016284.5(CNOT1):c.310-3C>G | not provided [RCV003318100] | uncertain significance | 16 | 58587416 | 58587416 | Human | | name |
| 404998018 | CV2849840 | single nucleotide variant | NM_014516.4(CNOT3):c.388-6C>T | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003492975] | uncertain significance | 19 | 54144231 | 54144231 | Human | 1 | name |
| 402503320 | CV2937755 | single nucleotide variant | NM_014516.4(CNOT3):c.704-5C>A | not provided [RCV003661807] | likely benign | 19 | 54145905 | 54145905 | Human | | name |
| 402503313 | CV3041750 | single nucleotide variant | NM_014516.4(CNOT3):c.484-8G>T | not provided [RCV003714965] | uncertain significance | 19 | 54145590 | 54145590 | Human | | name |
| 405219938 | CV3063317 | single nucleotide variant | NM_016284.5(CNOT1):c.807-4T>A | not provided [RCV003733066] | likely benign | 16 | 58583186 | 58583186 | Human | | name |
| 408389615 | CV3524658 | single nucleotide variant | NM_016284.5(CNOT1):c.434-2A>T | not provided [RCV004769553] | likely pathogenic | 16 | 58586750 | 58586750 | Human | | name |
| 596946896 | CV3546953 | single nucleotide variant | NM_014516.4(CNOT3):c.387+1G>A | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810759] | pathogenic | 19 | 54144135 | 54144135 | Human | 1 | name |
| 597632738 | CV3552894 | single nucleotide variant | NM_014516.4(CNOT3):c.258+3A>G | not provided [RCV004823724] | uncertain significance | 19 | 54143752 | 54143752 | Human | | name |
| 597647779 | CV3650474 | single nucleotide variant | NM_014516.4(CNOT3):c.387+5G>A | Inborn genetic diseases [RCV004974079] | uncertain significance | 19 | 54144139 | 54144139 | Human | 1 | name |
| 597937872 | CV3807940 | single nucleotide variant | NM_014516.4(CNOT3):c.94-10C>T | not provided [RCV005158319] | likely benign | 19 | 54143432 | 54143432 | Human | | name |
| 597866405 | CV3834456 | single nucleotide variant | NM_014516.4(CNOT3):c.484-8G>A | not provided [RCV005175823] | likely benign | 19 | 54145590 | 54145590 | Human | | name |
| 597887355 | CV3839051 | single nucleotide variant | NM_016284.5(CNOT1):c.637+6G>A | not provided [RCV005179136] | uncertain significance | 16 | 58586539 | 58586539 | Human | | name |
| 597887864 | CV3859397 | single nucleotide variant | NM_016284.5(CNOT1):c.934-8T>C | not provided [RCV005200053] | benign | 16 | 58582911 | 58582911 | Human | | name |
| 598257785 | CV3941288 | single nucleotide variant | NM_016284.5(CNOT1):c.378+2T>G | Inborn genetic diseases [RCV005324486] | uncertain significance | 16 | 58587343 | 58587343 | Human | 1 | name |
| 617151205 | CV4017785 | single nucleotide variant | NM_014516.4(CNOT3):c.168+8G>A | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005417571] | uncertain significance | 19 | 54143524 | 54143524 | Human | 1 | name |
| 40815859 | CV970508 | single nucleotide variant | NM_016284.5(CNOT1):c.102+2T>C | Vissers-Bodmer syndrome [RCV001261954] | likely pathogenic | 16 | 58599234 | 58599234 | Human | 1 | name |
| 150337110 | CV1173294 | variation | NM_014516.4(CNOT3):c.1606-694= | not provided [RCV001541419] | benign | 19 | 54151532 | 54151532 | Human | | name |
| 150458132 | CV1207356 | single nucleotide variant | NM_016284.5(CNOT1):c.5896-5C>T | Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588038]|Vissers-Bodmer syndrome [RCV001588039]|not provided [RCV001673225] | benign | 16 | 58532400 | 58532400 | Human | 5 | name |
| 150489034 | CV1250477 | single nucleotide variant | NM_016284.5(CNOT1):c.433+63T>C | not provided [RCV001674439] | benign | 16 | 58587138 | 58587138 | Human | | name |
| 150480015 | CV1258351 | single nucleotide variant | NM_016284.5(CNOT1):c.103-32C>G | not provided [RCV001685770] | benign | 16 | 58588938 | 58588938 | Human | | name |
| 150456401 | CV1260007 | single nucleotide variant | NM_016284.5(CNOT1):c.433+95A>G | not provided [RCV001681486] | benign | 16 | 58587106 | 58587106 | Human | | name |
| 150494137 | CV1267291 | single nucleotide variant | NM_016284.5(CNOT1):c.210+99C>T | not provided [RCV001688319] | benign | 16 | 58588700 | 58588700 | Human | | name |
| 150496262 | CV1272839 | single nucleotide variant | NM_016284.5(CNOT1):c.309+81G>A | not provided [RCV001688762] | benign | 16 | 58587699 | 58587699 | Human | | name |
| 150508873 | CV1284392 | duplication | NM_016284.5(CNOT1):c.933+53dup | not provided [RCV001720500] | benign | 16 | 58582994 | 58582995 | Human | | name |
| 150509322 | CV1284508 | single nucleotide variant | NM_016284.5(CNOT1):c.103-60C>T | not provided [RCV001720616] | benign | 16 | 58588966 | 58588966 | Human | | name |
| 151235068 | CV1318327 | single nucleotide variant | NM_016284.5(CNOT1):c.4575+5G>A | not provided [RCV001794650] | uncertain significance | 16 | 58542423 | 58542423 | Human | | name |
| 152141160 | CV1628894 | single nucleotide variant | NM_014516.4(CNOT3):c.703+18A>G | not provided [RCV002100795] | benign | 19 | 54145835 | 54145835 | Human | | name |
| 152071156 | CV1630730 | single nucleotide variant | NM_016284.5(CNOT1):c.637+14T>G | not provided [RCV002129635] | benign | 16 | 58586531 | 58586531 | Human | | name |
| 152982740 | CV1677658 | single nucleotide variant | NM_014516.4(CNOT3):c.1706-2A>G | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV002249370] | pathogenic | 19 | 54152426 | 54152426 | Human | 1 | name |
| 153301003 | CV1688843 | single nucleotide variant | NM_016284.5(CNOT1):c.-175+5G>A | Holoprosencephaly 12 with or without pancreatic agenesis [RCV002266571] | uncertain significance | 16 | 58629723 | 58629723 | Human | 1 | name |
| 153348439 | CV1692476 | single nucleotide variant | NM_016284.5(CNOT1):c.6178-2A>G | Neurodevelopmental delay [RCV002274329] | likely pathogenic | 16 | 58530349 | 58530349 | Human | 1 | name |
| 155642946 | CV1707586 | single nucleotide variant | NM_016284.5(CNOT1):c.3750+5G>A | Vissers-Bodmer syndrome [RCV002289047] | likely pathogenic | 16 | 58547181 | 58547181 | Human | 1 | name |
| 156324752 | CV1871083 | single nucleotide variant | NM_016284.5(CNOT1):c.3201+9A>C | not provided [RCV003063322] | likely benign | 16 | 58551580 | 58551580 | Human | | name |
| 156444982 | CV1949035 | single nucleotide variant | NM_016284.5(CNOT1):c.2332+9G>A | not provided [RCV003115916] | likely benign | 16 | 58558464 | 58558464 | Human | | name |
| 156030415 | CV2022633 | single nucleotide variant | NM_014516.4(CNOT3):c.703+16T>C | not provided [RCV002735784] | benign | 19 | 54145833 | 54145833 | Human | | name |
| 156130949 | CV2022736 | single nucleotide variant | NM_014516.4(CNOT3):c.703+20C>T | not provided [RCV002740561] | benign | 19 | 54145837 | 54145837 | Human | | name |
| 156133013 | CV2022822 | single nucleotide variant | NM_014516.4(CNOT3):c.258+18G>A | not provided [RCV002740634] | benign | 19 | 54143767 | 54143767 | Human | | name |
| 156177298 | CV2023147 | single nucleotide variant | NM_016284.5(CNOT1):c.6059+8T>C | not provided [RCV002765504] | likely benign | 16 | 58532224 | 58532224 | Human | | name |
| 156180870 | CV2023345 | single nucleotide variant | NM_016284.5(CNOT1):c.378+16A>G | not provided [RCV002765610] | benign | 16 | 58587329 | 58587329 | Human | | name |
| 156038858 | CV2026285 | single nucleotide variant | NM_016284.5(CNOT1):c.309+13A>G | not provided [RCV002736105] | likely benign | 16 | 58587767 | 58587767 | Human | | name |
| 156249674 | CV2029553 | single nucleotide variant | NM_014516.4(CNOT3):c.2164-7C>T | not provided [RCV002745946] | benign|likely benign | 19 | 54155302 | 54155302 | Human | | name |
| 156143020 | CV2033021 | single nucleotide variant | NM_016284.5(CNOT1):c.933+18A>G | not provided [RCV002740965] | likely benign | 16 | 58583038 | 58583038 | Human | | name |
| 156145028 | CV2033122 | single nucleotide variant | NM_016284.5(CNOT1):c.1828-9A>G | not provided [RCV002741034] | likely benign | 16 | 58574769 | 58574769 | Human | | name |
| 155915564 | CV2033428 | single nucleotide variant | NM_014516.4(CNOT3):c.388-13C>T | not provided [RCV002750446] | likely benign | 19 | 54144224 | 54144224 | Human | | name |
| 156152204 | CV2049142 | single nucleotide variant | NM_016284.5(CNOT1):c.2130+4A>G | not provided [RCV002801328] | uncertain significance | 16 | 58560208 | 58560208 | Human | | name |
| 155991597 | CV2049665 | single nucleotide variant | NM_016284.5(CNOT1):c.2131-3T>C | not provided [RCV002819230] | uncertain significance | 16 | 58558677 | 58558677 | Human | | name |
| 156032378 | CV2059208 | single nucleotide variant | NM_016284.5(CNOT1):c.6178-7C>T | not provided [RCV002796108] | likely benign | 16 | 58530354 | 58530354 | Human | | name |
| 155935908 | CV2064547 | single nucleotide variant | NM_016284.5(CNOT1):c.5895+4T>C | Inborn genetic diseases [RCV002829992]|not provided [RCV002861435] | uncertain significance | 16 | 58534143 | 58534143 | Human | 1 | name |
| 156190811 | CV2066374 | single nucleotide variant | NM_016284.5(CNOT1):c.6177+8T>G | not provided [RCV002828602] | likely benign | 16 | 58531950 | 58531950 | Human | | name |
| 156125110 | CV2090117 | single nucleotide variant | NM_016284.5(CNOT1):c.5415-8T>C | not provided [RCV002889719] | likely benign | 16 | 58537228 | 58537228 | Human | | name |
| 156237252 | CV2090255 | single nucleotide variant | NM_014516.4(CNOT3):c.259-18C>T | not provided [RCV002894782] | likely benign | 19 | 54143988 | 54143988 | Human | | name |
| 156150517 | CV2091048 | duplication | NM_016284.5(CNOT1):c.3202-3dup | not provided [RCV002890636] | benign | 16 | 58551274 | 58551275 | Human | | name |
| 156264332 | CV2100842 | single nucleotide variant | NM_016284.5(CNOT1):c.2480-4A>G | not provided [RCV002877383] | uncertain significance | 16 | 58555912 | 58555912 | Human | | name |
| 156205994 | CV2103721 | single nucleotide variant | NM_016284.5(CNOT1):c.4680+8T>C | not provided [RCV002931865] | benign | 16 | 58542223 | 58542223 | Human | | name |
| 156297120 | CV2108599 | single nucleotide variant | NM_016284.5(CNOT1):c.1344-5G>A | not provided [RCV002922398] | likely benign | 16 | 58578944 | 58578944 | Human | | name |
| 156307439 | CV2115682 | single nucleotide variant | NM_016284.5(CNOT1):c.2480-5A>G | CNOT1-related disorder [RCV003961226]|Inborn genetic diseases [RCV002922887]|not provided [RCV002922888] | benign|likely benign | 16 | 58555913 | 58555913 | Human | 2 | name , alternate_id |
| 155940437 | CV2119795 | single nucleotide variant | NM_016284.5(CNOT1):c.6917+7G>A | not provided [RCV002971244] | likely benign | 16 | 58523363 | 58523363 | Human | | name |
| 156149073 | CV2128531 | single nucleotide variant | NM_016284.5(CNOT1):c.5895+9T>C | CNOT1-related disorder [RCV003926585]|not provided [RCV002928837] | benign|likely benign | 16 | 58534138 | 58534138 | Human | 1 | name , alternate_id |
| 155908279 | CV2130953 | single nucleotide variant | NM_016284.5(CNOT1):c.310-14T>C | not provided [RCV002967854] | likely benign | 16 | 58587427 | 58587427 | Human | | name |
| 156025145 | CV2137713 | single nucleotide variant | NM_016284.5(CNOT1):c.1704+9A>C | not provided [RCV002976348] | benign | 16 | 58576454 | 58576454 | Human | | name |
| 156325177 | CV2159749 | single nucleotide variant | NM_016284.5(CNOT1):c.3202-5T>C | not provided [RCV003029441] | likely benign | 16 | 58551277 | 58551277 | Human | | name |
| 156356292 | CV2165942 | deletion | NM_016284.5(CNOT1):c.6785-8del | not provided [RCV003031257] | likely benign | 16 | 58523510 | 58523510 | Human | | name |
| 243050574 | CV2403881 | single nucleotide variant | NM_016284.5(CNOT1):c.1343+1G>T | Nuerodevelopment disorder [RCV003128552] | pathogenic | 16 | 58580632 | 58580632 | Human | | name |
| 401927005 | CV2796825 | single nucleotide variant | NM_016284.5(CNOT1):c.5136-4C>G | CNOT1-related disorder [RCV003406125] | uncertain significance | 16 | 58538270 | 58538270 | Human | | name , trait , alternate_id |
| 401913508 | CV2830425 | deletion | NM_014516.4(CNOT3):c.1606-3del | not provided [RCV003441640] | uncertain significance | 19 | 54152220 | 54152220 | Human | | name |
| 401943709 | CV2840158 | deletion | NM_016284.5(CNOT1):c.4434+1del | not provided [RCV003456933] | likely pathogenic | 16 | 58543606 | 58543606 | Human | | name |
| 405172249 | CV2854355 | single nucleotide variant | NM_016284.5(CNOT1):c.6454-9C>G | not provided [RCV003542120] | benign | 16 | 58526147 | 58526147 | Human | | name |
| 402482656 | CV2937482 | single nucleotide variant | NM_016284.5(CNOT1):c.2480-7C>A | not provided [RCV003659785] | benign | 16 | 58555915 | 58555915 | Human | | name |
| 405100528 | CV2938247 | single nucleotide variant | NM_016284.5(CNOT1):c.1216-8C>T | not provided [RCV003665877] | likely benign | 16 | 58580768 | 58580768 | Human | | name |
| 405063457 | CV2939787 | single nucleotide variant | NM_016284.5(CNOT1):c.3639+8T>C | not provided [RCV003658951] | likely benign | 16 | 58547558 | 58547558 | Human | | name |
| 402500063 | CV2943526 | single nucleotide variant | NM_014516.4(CNOT3):c.484-19G>A | not provided [RCV003661511] | likely benign | 19 | 54145579 | 54145579 | Human | | name |
| 405154720 | CV2949344 | deletion | NM_014516.4(CNOT3):c.703+20del | not provided [RCV003674190] | likely benign | 19 | 54145837 | 54145837 | Human | | name |
| 405242611 | CV2967380 | single nucleotide variant | NM_016284.5(CNOT1):c.4800+8T>G | not provided [RCV003684395] | likely benign | 16 | 58541493 | 58541493 | Human | | name |
| 405210477 | CV2970592 | single nucleotide variant | NM_016284.5(CNOT1):c.1215+5G>A | not provided [RCV003679322] | uncertain significance | 16 | 58581340 | 58581340 | Human | | name |
| 405065388 | CV3020770 | single nucleotide variant | NM_014516.4(CNOT3):c.894+19C>T | not provided [RCV003697936] | benign | 19 | 54146676 | 54146676 | Human | | name |
| 405121701 | CV3024529 | single nucleotide variant | NM_014516.4(CNOT3):c.483+17C>T | not provided [RCV003700751] | benign | 19 | 54144349 | 54144349 | Human | | name |
| 405173510 | CV3026899 | single nucleotide variant | NM_016284.5(CNOT1):c.378+18A>G | not provided [RCV003704894] | likely benign | 16 | 58587327 | 58587327 | Human | | name |
| 405120392 | CV3027148 | single nucleotide variant | NM_014516.4(CNOT3):c.1905-9C>A | not provided [RCV003700696] | likely benign | 19 | 54152858 | 54152858 | Human | | name |
| 405144477 | CV3027331 | single nucleotide variant | NM_014516.4(CNOT3):c.838-10C>G | not provided [RCV003702800] | likely benign | 19 | 54146591 | 54146591 | Human | | name |
| 405070105 | CV3037510 | single nucleotide variant | NM_014516.4(CNOT3):c.837+13G>A | not provided [RCV003698268] | likely benign | 19 | 54146056 | 54146056 | Human | | name |
| 405288500 | CV3193604 | single nucleotide variant | NM_014516.4(CNOT3):c.2164-9C>G | CNOT3-related disorder [RCV003982610] | uncertain significance | 19 | 54155300 | 54155300 | Human | | name , trait , alternate_id |
| 405272780 | CV3210206 | single nucleotide variant | NM_016284.5(CNOT1):c.2970+9C>G | CNOT1-related disorder [RCV003914442] | likely benign | 16 | 58553773 | 58553773 | Human | | name , trait , alternate_id |
| 405674181 | CV3304603 | single nucleotide variant | NM_014516.4(CNOT3):c.2037+3A>C | Inborn genetic diseases [RCV004441988] | likely pathogenic | 19 | 54153002 | 54153002 | Human | 1 | name |
| 405866707 | CV3401113 | single nucleotide variant | NM_016284.5(CNOT1):c.6603+3T>A | Vissers-Bodmer syndrome [RCV004577229] | uncertain significance | 16 | 58525986 | 58525986 | Human | 1 | name |
| 407425519 | CV3409573 | single nucleotide variant | NM_014515.7(CNOT2):c.1179-3C>T | not provided [RCV004585505] | likely benign | 12 | 70342104 | 70342104 | Human | | name |
| 408388229 | CV3527424 | single nucleotide variant | NM_016284.5(CNOT1):c.3639+5G>A | not provided [RCV004773727] | uncertain significance | 16 | 58547561 | 58547561 | Human | | name |
| 596921079 | CV3534696 | single nucleotide variant | NM_016284.5(CNOT1):c.4575+6T>G | not provided [RCV004784253] | uncertain significance | 16 | 58542422 | 58542422 | Human | | name |
| 596942864 | CV3544228 | single nucleotide variant | NM_014516.4(CNOT3):c.1905-7C>G | not provided [RCV005001478]|not specified [RCV004800221] | uncertain significance | 19 | 54152860 | 54152860 | Human | | name |
| 596946881 | CV3546938 | single nucleotide variant | NM_014516.4(CNOT3):c.1406+1G>A | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810744] | pathogenic | 19 | 54148744 | 54148744 | Human | 1 | name |
| 596946883 | CV3546940 | single nucleotide variant | NM_014516.4(CNOT3):c.1705+2T>G | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810746] | pathogenic | 19 | 54152327 | 54152327 | Human | 1 | name |
| 596946887 | CV3546944 | single nucleotide variant | NM_014516.4(CNOT3):c.1904+2T>C | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810750] | pathogenic|likely pathogenic | 19 | 54152628 | 54152628 | Human | 1 | name |
| 597647746 | CV3653954 | duplication | NM_016284.5(CNOT1):c.7052+2dup | Inborn genetic diseases [RCV004974072] | uncertain significance | 16 | 58521180 | 58521181 | Human | 1 | name |
| 597852444 | CV3758574 | single nucleotide variant | NM_016284.5(CNOT1):c.3343-7C>T | not provided [RCV005088133] | likely benign | 16 | 58549905 | 58549905 | Human | | name |
| 597875529 | CV3766298 | single nucleotide variant | NM_016284.5(CNOT1):c.2970+7G>A | not provided [RCV005108430] | benign | 16 | 58553775 | 58553775 | Human | | name |
| 597905980 | CV3773018 | single nucleotide variant | NM_016284.5(CNOT1):c.5896-4G>T | not provided [RCV005113082] | likely benign | 16 | 58532399 | 58532399 | Human | | name |
| 597960668 | CV3794717 | single nucleotide variant | NM_016284.5(CNOT1):c.210+17G>T | not provided [RCV005138622] | likely benign | 16 | 58588782 | 58588782 | Human | | name |
| 597951421 | CV3798328 | single nucleotide variant | NM_016284.5(CNOT1):c.5415-5G>A | not provided [RCV005136108] | likely benign | 16 | 58537225 | 58537225 | Human | | name |
| 597936276 | CV3807611 | single nucleotide variant | NM_016284.5(CNOT1):c.5896-4G>A | not provided [RCV005157989] | likely benign | 16 | 58532399 | 58532399 | Human | | name |
| 597891992 | CV3809755 | single nucleotide variant | NM_014516.4(CNOT3):c.894+12C>T | not provided [RCV005151475] | likely benign | 19 | 54146669 | 54146669 | Human | | name |
| 597948290 | CV3818279 | deletion | NM_016284.5(CNOT1):c.3202-3del | not provided [RCV005160540] | benign | 16 | 58551275 | 58551275 | Human | | name |
| 597939750 | CV3818713 | single nucleotide variant | NM_016284.5(CNOT1):c.6784+7G>A | not provided [RCV005158719] | likely benign | 16 | 58525172 | 58525172 | Human | | name |
| 597861896 | CV3822573 | duplication | NM_016284.5(CNOT1):c.378+18dup | not provided [RCV005175103] | benign | 16 | 58587326 | 58587327 | Human | | name |
| 597879506 | CV3826260 | duplication | NM_016284.5(CNOT1):c.1215+6dup | not provided [RCV005177956] | likely benign | 16 | 58581338 | 58581339 | Human | | name |
| 597972259 | CV3829542 | single nucleotide variant | NM_016284.5(CNOT1):c.2130+7G>A | not provided [RCV005167329] | likely benign | 16 | 58560205 | 58560205 | Human | | name |
| 597909879 | CV3830108 | single nucleotide variant | NM_016284.5(CNOT1):c.1343+8C>T | not provided [RCV005182678] | likely benign | 16 | 58580625 | 58580625 | Human | | name |
| 597954231 | CV3844373 | single nucleotide variant | NM_016284.5(CNOT1):c.1585-5T>C | not provided [RCV005191046] | likely benign | 16 | 58576587 | 58576587 | Human | | name |
| 598124073 | CV3884132 | duplication | NM_016284.5(CNOT1):c.3202-2dup | Holoprosencephaly 12 with or without pancreatic agenesis [RCV005234900] | likely pathogenic | 16 | 58551273 | 58551274 | Human | 1 | name |
| 598129292 | CV3888586 | single nucleotide variant | NM_014516.4(CNOT3):c.1606-6C>T | not provided [RCV005244760] | uncertain significance | 19 | 54152220 | 54152220 | Human | | name |
| 15170314 | CV731084 | single nucleotide variant | NM_016284.5(CNOT1):c.2892-8G>T | CNOT1-related disorder [RCV003930593]|not provided [RCV000883447] | benign | 16 | 58553868 | 58553868 | Human | 1 | name , alternate_id |
| 150336215 | CV1172874 | single nucleotide variant | NM_016284.5(CNOT1):c.2891+43C>T | not provided [RCV001540892] | benign | 16 | 58555208 | 58555208 | Human | | name |
| 150332245 | CV1172876 | deletion | NM_016284.5(CNOT1):c.102+185del | not provided [RCV001538949] | benign | 16 | 58599051 | 58599051 | Human | | name |
| 150458136 | CV1207360 | single nucleotide variant | NM_016284.5(CNOT1):c.4006+12A>G | Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588046]|Vissers-Bodmer syndrome [RCV001588047]|not provided [RCV001676066] | benign | 16 | 58546309 | 58546309 | Human | 2 | name |
| 150512153 | CV1212929 | single nucleotide variant | NM_016284.5(CNOT1):c.3828+57T>G | not provided [RCV001598161] | benign | 16 | 58546615 | 58546615 | Human | | name |
| 150500544 | CV1213177 | single nucleotide variant | NM_016284.5(CNOT1):c.4434+90G>A | not provided [RCV001594589] | benign | 16 | 58543517 | 58543517 | Human | | name |
| 150474647 | CV1217833 | single nucleotide variant | NM_016284.5(CNOT1):c.6784+94G>A | not provided [RCV001615844] | benign | 16 | 58525085 | 58525085 | Human | | name |
| 150495929 | CV1225197 | single nucleotide variant | NM_016284.5(CNOT1):c.3640-28G>A | not provided [RCV001619675] | benign | 16 | 58547324 | 58547324 | Human | | name |
| 150514069 | CV1228039 | single nucleotide variant | NM_016284.5(CNOT1):c.2891+92C>G | not provided [RCV001638317] | benign | 16 | 58555159 | 58555159 | Human | | name |
| 150514526 | CV1228545 | deletion | NM_016284.5(CNOT1):c.1980-75del | not provided [RCV001638533] | benign | 16 | 58560437 | 58560437 | Human | | name |
| 150510701 | CV1229223 | single nucleotide variant | NM_016284.5(CNOT1):c.1979+77T>C | not provided [RCV001637151] | benign | 16 | 58574532 | 58574532 | Human | | name |
| 150433764 | CV1230620 | single nucleotide variant | NM_016284.5(CNOT1):c.1216-79C>A | not provided [RCV001643566] | benign | 16 | 58580839 | 58580839 | Human | | name |
| 150460123 | CV1236199 | single nucleotide variant | NM_016284.5(CNOT1):c.5415-61G>A | not provided [RCV001649170] | benign | 16 | 58537281 | 58537281 | Human | | name |
| 150431815 | CV1236543 | single nucleotide variant | NM_016284.5(CNOT1):c.1215+26A>G | not provided [RCV001641947] | benign | 16 | 58581319 | 58581319 | Human | | name |
| 150465688 | CV1240283 | single nucleotide variant | NM_016284.5(CNOT1):c.5415-65A>G | not provided [RCV001650044] | benign | 16 | 58537285 | 58537285 | Human | | name |
| 150440593 | CV1246597 | single nucleotide variant | NM_016284.5(CNOT1):c.5245-46G>T | not provided [RCV001666250] | benign | 16 | 58538106 | 58538106 | Human | | name |
| 150458003 | CV1248868 | single nucleotide variant | NM_016284.5(CNOT1):c.4801-83G>A | not provided [RCV001669044] | benign | 16 | 58540042 | 58540042 | Human | | name |
| 150485468 | CV1250233 | single nucleotide variant | NM_016284.5(CNOT1):c.1216-69G>A | not provided [RCV001673846] | benign | 16 | 58580829 | 58580829 | Human | | name |
| 150490003 | CV1250952 | single nucleotide variant | NM_016284.5(CNOT1):c.433+110T>C | not provided [RCV001674619] | benign | 16 | 58587091 | 58587091 | Human | | name |
| 150459764 | CV1252999 | single nucleotide variant | NM_016284.5(CNOT1):c.3828+46A>G | not provided [RCV001669327] | benign | 16 | 58546626 | 58546626 | Human | | name |
| 150466348 | CV1255724 | deletion | NM_016284.5(CNOT1):c.210+106del | not provided [RCV001670358] | benign | 16 | 58588693 | 58588693 | Human | | name |
| 150443470 | CV1266400 | single nucleotide variant | NM_016284.5(CNOT1):c.2332+99G>A | not provided [RCV001690836] | benign | 16 | 58558374 | 58558374 | Human | | name |
| 150469557 | CV1268118 | duplication | NM_016284.5(CNOT1):c.1584+84dup | not provided [RCV001694981] | benign | 16 | 58578606 | 58578607 | Human | | name |
| 150456879 | CV1269136 | single nucleotide variant | NM_016284.5(CNOT1):c.4801-38C>T | not provided [RCV001692960] | benign | 16 | 58539997 | 58539997 | Human | | name |
| 150467758 | CV1269285 | duplication | NM_016284.5(CNOT1):c.6917+64dup | not provided [RCV001694693] | benign | 16 | 58523305 | 58523306 | Human | | name |
| 150509024 | CV1284431 | duplication | NM_016284.5(CNOT1):c.4992+88dup | not provided [RCV001720539] | benign | 16 | 58539679 | 58539680 | Human | | name |
| 152111358 | CV1640377 | single nucleotide variant | NM_016284.5(CNOT1):c.6059+17C>T | not provided [RCV002174374] | benign | 16 | 58532215 | 58532215 | Human | | name |
| 152091159 | CV1662135 | single nucleotide variant | NM_016284.5(CNOT1):c.1216-17A>G | not provided [RCV002132061] | benign | 16 | 58580777 | 58580777 | Human | | name |
| 155796388 | CV1861822 | deletion | NM_016284.5(CNOT1):c.1585-14del | not specified [RCV002470104] | uncertain significance | 16 | 58576596 | 58576596 | Human | | name |
| 156373513 | CV1901913 | single nucleotide variant | NM_016284.5(CNOT1):c.2971-10A>G | not provided [RCV003092664] | likely benign | 16 | 58551829 | 58551829 | Human | | name |
| 156030006 | CV2022613 | single nucleotide variant | NM_016284.5(CNOT1):c.6784+11C>T | not provided [RCV002735769] | benign | 16 | 58525168 | 58525168 | Human | | name |
| 156133527 | CV2022840 | single nucleotide variant | NM_016284.5(CNOT1):c.2970+14G>A | not provided [RCV002740650] | benign | 16 | 58553768 | 58553768 | Human | | name |
| 156134655 | CV2022890 | single nucleotide variant | NM_016284.5(CNOT1):c.5244+20G>T | not provided [RCV002740686] | likely benign | 16 | 58538138 | 58538138 | Human | | name |
| 156153173 | CV2023146 | single nucleotide variant | NM_016284.5(CNOT1):c.1584+13C>T | not provided [RCV002741288] | likely benign | 16 | 58578686 | 58578686 | Human | | name |
| 156156283 | CV2023361 | single nucleotide variant | NM_016284.5(CNOT1):c.6178-16C>T | not provided [RCV002741388] | benign | 16 | 58530363 | 58530363 | Human | | name |
| 156274106 | CV2023379 | single nucleotide variant | NM_016284.5(CNOT1):c.4007-18T>C | not provided [RCV002746739] | likely benign | 16 | 58545509 | 58545509 | Human | | name |
| 155961733 | CV2023711 | single nucleotide variant | NM_016284.5(CNOT1):c.5896-16T>C | not provided [RCV002731207] | likely benign | 16 | 58532411 | 58532411 | Human | | name |
| 156242061 | CV2024548 | single nucleotide variant | NM_016284.5(CNOT1):c.4137+10C>T | not provided [RCV002745695] | likely benign | 16 | 58545351 | 58545351 | Human | | name |
| 156027589 | CV2025795 | duplication | NM_016284.5(CNOT1):c.4435-19dup | not provided [RCV002735666] | benign | 16 | 58542586 | 58542587 | Human | | name |
| 155913134 | CV2025862 | single nucleotide variant | NM_016284.5(CNOT1):c.6279+19T>C | not provided [RCV002750282] | likely benign | 16 | 58530227 | 58530227 | Human | | name |
| 156258212 | CV2026019 | single nucleotide variant | NM_014516.4(CNOT3):c.1406+12G>A | not provided [RCV002746216] | likely benign | 19 | 54148755 | 54148755 | Human | | name |
| 156042541 | CV2026454 | single nucleotide variant | NM_016284.5(CNOT1):c.4992+16A>G | not provided [RCV002736239] | benign | 16 | 58539752 | 58539752 | Human | | name |
| 156174086 | CV2026550 | deletion | NM_016284.5(CNOT1):c.4435-19del | not provided [RCV002765408] | benign | 16 | 58542587 | 58542587 | Human | | name |
| 156145535 | CV2026592 | single nucleotide variant | NM_016284.5(CNOT1):c.4435-19C>G | not provided [RCV002741052] | likely benign | 16 | 58542587 | 58542587 | Human | | name |
| 156145809 | CV2026602 | single nucleotide variant | NM_016284.5(CNOT1):c.3751-18A>G | not provided [RCV002741061] | likely benign | 16 | 58546767 | 58546767 | Human | | name |
| 156273385 | CV2027095 | deletion | NM_016284.5(CNOT1):c.6279+11del | not provided [RCV002746716] | likely benign | 16 | 58530235 | 58530235 | Human | | name |
| 156249227 | CV2029538 | single nucleotide variant | NM_016284.5(CNOT1):c.6453+12A>G | not provided [RCV002745933] | benign | 16 | 58528463 | 58528463 | Human | | name |
| 156032469 | CV2029840 | single nucleotide variant | NM_014516.4(CNOT3):c.1282+18G>A | not provided [RCV002735863] | likely benign | 19 | 54148553 | 54148553 | Human | | name |
| 156036563 | CV2030048 | single nucleotide variant | NM_016284.5(CNOT1):c.6603+18A>C | not provided [RCV002736020] | likely benign | 16 | 58525971 | 58525971 | Human | | name |
| 156262071 | CV2030171 | single nucleotide variant | NM_016284.5(CNOT1):c.5135+16C>T | not provided [RCV002746345] | likely benign | 16 | 58538756 | 58538756 | Human | | name |
| 155986380 | CV2030467 | single nucleotide variant | NM_016284.5(CNOT1):c.2130+11G>A | not provided [RCV002755556] | likely benign | 16 | 58560201 | 58560201 | Human | | name |
| 156095714 | CV2030920 | single nucleotide variant | NM_016284.5(CNOT1):c.4006+15T>G | not provided [RCV002761117] | likely benign | 16 | 58546306 | 58546306 | Human | | name |
| 156136324 | CV2032736 | single nucleotide variant | NM_016284.5(CNOT1):c.4434+15T>C | not provided [RCV002740742] | likely benign | 16 | 58543592 | 58543592 | Human | | name |
| 156137720 | CV2032788 | single nucleotide variant | NM_016284.5(CNOT1):c.6453+19A>T | not provided [RCV002740788] | benign | 16 | 58528456 | 58528456 | Human | | name |
| 155911079 | CV2033072 | single nucleotide variant | NM_014516.4(CNOT3):c.2038-18C>T | not provided [RCV002750141] | benign | 19 | 54153697 | 54153697 | Human | | name |
| 155955148 | CV2033353 | single nucleotide variant | NM_016284.5(CNOT1):c.4993-19C>T | not provided [RCV002730888] | likely benign | 16 | 58538933 | 58538933 | Human | | name |
| 156260616 | CV2033949 | single nucleotide variant | NM_016284.5(CNOT1):c.3829-11G>A | not provided [RCV002746295] | benign | 16 | 58546509 | 58546509 | Human | | name |
| 155967461 | CV2034389 | single nucleotide variant | NM_016284.5(CNOT1):c.4993-18G>A | not provided [RCV002731461] | likely benign | 16 | 58538932 | 58538932 | Human | | name |
| 155927811 | CV2041579 | duplication | NM_016284.5(CNOT1):c.1585-20dup | not provided [RCV002751014] | likely benign | 16 | 58576601 | 58576602 | Human | | name |
| 156101188 | CV2051123 | single nucleotide variant | NM_016284.5(CNOT1):c.5136-15T>C | not provided [RCV002824565] | likely benign | 16 | 58538281 | 58538281 | Human | | name |
| 156228793 | CV2077381 | single nucleotide variant | NM_016284.5(CNOT1):c.6178-17A>G | not provided [RCV002853492] | likely benign | 16 | 58530364 | 58530364 | Human | | name |
| 156234233 | CV2085493 | single nucleotide variant | NM_016284.5(CNOT1):c.6918-16T>G | not provided [RCV002876354] | likely benign | 16 | 58521333 | 58521333 | Human | | name |
| 156014614 | CV2086887 | single nucleotide variant | NM_014516.4(CNOT3):c.1705+13G>C | not provided [RCV002866287] | likely benign | 19 | 54152338 | 54152338 | Human | | name |
| 156213794 | CV2087352 | single nucleotide variant | NM_016284.5(CNOT1):c.1585-19T>C | not provided [RCV002852931] | likely benign | 16 | 58576601 | 58576601 | Human | | name |
| 155928161 | CV2095850 | single nucleotide variant | NM_016284.5(CNOT1):c.2971-18C>T | not provided [RCV002903679] | likely benign | 16 | 58551837 | 58551837 | Human | | name |
| 156342378 | CV2103434 | single nucleotide variant | NM_016284.5(CNOT1):c.6177+11A>G | not provided [RCV002900549] | likely benign | 16 | 58531947 | 58531947 | Human | | name |
| 155944400 | CV2143200 | single nucleotide variant | NM_016284.5(CNOT1):c.1585-18C>T | not provided [RCV002994258] | likely benign | 16 | 58576600 | 58576600 | Human | | name |
| 156022678 | CV2145384 | single nucleotide variant | NM_016284.5(CNOT1):c.3829-20C>A | not provided [RCV003018305] | likely benign | 16 | 58546518 | 58546518 | Human | | name |
| 156319093 | CV2155261 | single nucleotide variant | NM_016284.5(CNOT1):c.1980-11C>T | not provided [RCV003011573] | likely benign | 16 | 58560373 | 58560373 | Human | | name |
| 155982308 | CV2163175 | single nucleotide variant | NM_016284.5(CNOT1):c.6178-11C>A | not provided [RCV003033937] | likely benign | 16 | 58530358 | 58530358 | Human | | name |
| 156294390 | CV2166481 | single nucleotide variant | NM_016284.5(CNOT1):c.6603+17T>A | not provided [RCV003045272] | likely benign | 16 | 58525972 | 58525972 | Human | | name |
| 156169354 | CV2184920 | single nucleotide variant | NM_016284.5(CNOT1):c.2332+11G>A | not provided [RCV003057171] | likely benign | 16 | 58558462 | 58558462 | Human | | name |
| 156126314 | CV2185659 | single nucleotide variant | NM_016284.5(CNOT1):c.4575+12G>A | not provided [RCV003055665] | likely benign | 16 | 58542416 | 58542416 | Human | | name |
| 405218317 | CV2873688 | single nucleotide variant | NM_016284.5(CNOT1):c.4680+16C>G | not provided [RCV003553511] | likely benign | 16 | 58542215 | 58542215 | Human | | name |
| 402491679 | CV2877737 | single nucleotide variant | NM_016284.5(CNOT1):c.5415-14A>G | not provided [RCV003545005] | likely benign | 16 | 58537234 | 58537234 | Human | | name |
| 402474213 | CV2919663 | deletion | NM_016284.5(CNOT1):c.5895+14del | not provided [RCV003571145] | likely benign | 16 | 58534133 | 58534133 | Human | | name |
| 405064219 | CV2939874 | single nucleotide variant | NM_016284.5(CNOT1):c.4435-20C>G | not provided [RCV003659005] | likely benign | 16 | 58542588 | 58542588 | Human | | name |
| 405075409 | CV2940734 | single nucleotide variant | NM_014516.4(CNOT3):c.1406+19G>A | not provided [RCV003659673] | likely benign | 19 | 54148762 | 54148762 | Human | | name |
| 405123518 | CV2942567 | single nucleotide variant | NM_016284.5(CNOT1):c.3522+11G>A | not provided [RCV003671727] | likely benign | 16 | 58549708 | 58549708 | Human | | name |
| 402501329 | CV2943717 | single nucleotide variant | NM_014516.4(CNOT3):c.2164-18G>A | not provided [RCV003661639] | likely benign | 19 | 54155291 | 54155291 | Human | | name |
| 405094700 | CV2947349 | single nucleotide variant | NM_016284.5(CNOT1):c.5647-19T>C | not provided [RCV003665546] | likely benign | 16 | 58534414 | 58534414 | Human | | name |
| 405155399 | CV2950815 | single nucleotide variant | NM_016284.5(CNOT1):c.1045-19C>G | not provided [RCV003670336] | likely benign | 16 | 58581534 | 58581534 | Human | | name |
| 405116254 | CV2953288 | single nucleotide variant | NM_016284.5(CNOT1):c.1980-18T>G | not provided [RCV003666951] | likely benign | 16 | 58560380 | 58560380 | Human | | name |
| 405143437 | CV2958957 | single nucleotide variant | NM_016284.5(CNOT1):c.4137+15C>T | not provided [RCV003673435] | likely benign | 16 | 58545346 | 58545346 | Human | | name |
| 402507245 | CV2978847 | single nucleotide variant | NM_016284.5(CNOT1):c.3639+13T>G | not provided [RCV003689183] | likely benign | 16 | 58547553 | 58547553 | Human | | name |
| 405062815 | CV3020570 | single nucleotide variant | NM_014516.4(CNOT3):c.1283-17T>C | not provided [RCV003697809] | benign | 19 | 54148603 | 54148603 | Human | | name |
| 405146028 | CV3023947 | single nucleotide variant | NM_014516.4(CNOT3):c.1605+15C>T | not provided [RCV003702937] | likely benign | 19 | 54149773 | 54149773 | Human | | name |
| 405170938 | CV3029381 | single nucleotide variant | NM_016284.5(CNOT1):c.1585-14C>G | not provided [RCV003704603] | likely benign | 16 | 58576596 | 58576596 | Human | | name |
| 405069185 | CV3030928 | single nucleotide variant | NM_014516.4(CNOT3):c.1605+11C>T | not provided [RCV003698131] | likely benign | 19 | 54149769 | 54149769 | Human | | name |
| 405183262 | CV3031955 | single nucleotide variant | NM_016284.5(CNOT1):c.4435-15C>T | not provided [RCV003705754] | likely benign | 16 | 58542583 | 58542583 | Human | | name |
| 402479002 | CV3033094 | single nucleotide variant | NM_016284.5(CNOT1):c.3829-20C>G | not provided [RCV003712630] | likely benign | 16 | 58546518 | 58546518 | Human | | name |
| 402479131 | CV3033113 | single nucleotide variant | NM_016284.5(CNOT1):c.4575+20C>A | not provided [RCV003712645] | likely benign | 16 | 58542408 | 58542408 | Human | | name |
| 405235589 | CV3040797 | single nucleotide variant | NM_016284.5(CNOT1):c.2480-19C>A | not provided [RCV003712202] | likely benign | 16 | 58555927 | 58555927 | Human | | name |
| 405225185 | CV3042111 | single nucleotide variant | NM_016284.5(CNOT1):c.3751-15A>T | not provided [RCV003710574] | likely benign | 16 | 58546764 | 58546764 | Human | | name |
| 405236113 | CV3079641 | single nucleotide variant | NM_016284.5(CNOT1):c.3342+10C>G | not provided [RCV003735931] | benign | 16 | 58551122 | 58551122 | Human | | name |
| 405049411 | CV3080128 | microsatellite | NM_016284.5(CNOT1):c.638-8TC[2] | not provided [RCV003740485] | likely benign | 16 | 58585509 | 58585510 | Human | | name |
| 405285201 | CV3202568 | single nucleotide variant | NM_016284.5(CNOT1):c.4434+79T>C | CNOT1-related disorder [RCV003909825] | likely benign | 16 | 58543528 | 58543528 | Human | | name , trait , alternate_id |
| 405293061 | CV3207217 | single nucleotide variant | NM_016284.5(CNOT1):c.4434+44G>C | CNOT1-related disorder [RCV003931616] | benign | 16 | 58543563 | 58543563 | Human | | name , trait , alternate_id |
| 405270701 | CV3212093 | single nucleotide variant | NM_014516.4(CNOT3):c.2038-10C>T | CNOT3-related disorder [RCV003949466] | likely benign | 19 | 54153705 | 54153705 | Human | | name , trait , alternate_id |
| 405854309 | CV3392969 | single nucleotide variant | NM_016284.5(CNOT1):c.4575+10T>C | not specified [RCV004527126] | likely benign | 16 | 58542418 | 58542418 | Human | | name |
| 408366207 | CV3516873 | single nucleotide variant | NM_016284.5(CNOT1):c.4434+12A>G | CNOT1-related disorder [RCV004755688] | likely benign | 16 | 58543595 | 58543595 | Human | | name , trait , alternate_id |
| 597887618 | CV3787517 | single nucleotide variant | NM_016284.5(CNOT1):c.4801-10T>C | not provided [RCV005125083] | likely benign | 16 | 58539969 | 58539969 | Human | | name |
| 597894529 | CV3810069 | single nucleotide variant | NM_016284.5(CNOT1):c.1584+14G>T | not provided [RCV005151790] | likely benign | 16 | 58578685 | 58578685 | Human | | name |
| 597957251 | CV3814302 | single nucleotide variant | NM_016284.5(CNOT1):c.1979+16A>G | not provided [RCV005162633] | likely benign | 16 | 58574593 | 58574593 | Human | | name |
| 597940055 | CV3818776 | single nucleotide variant | NM_016284.5(CNOT1):c.3201+13A>G | not provided [RCV005158782] | likely benign | 16 | 58551576 | 58551576 | Human | | name |
| 597882652 | CV3822977 | single nucleotide variant | NM_014516.4(CNOT3):c.1905-20C>A | not provided [RCV005178303] | likely benign | 19 | 54152847 | 54152847 | Human | | name |
| 597972553 | CV3823400 | single nucleotide variant | NM_016284.5(CNOT1):c.6918-18C>G | not provided [RCV005167496] | likely benign | 16 | 58521335 | 58521335 | Human | | name |
| 597876902 | CV3825701 | single nucleotide variant | NM_016284.5(CNOT1):c.1979+14A>G | not provided [RCV005177575] | likely benign | 16 | 58574595 | 58574595 | Human | | name |
| 597909550 | CV3830037 | single nucleotide variant | NM_016284.5(CNOT1):c.1828-17A>T | not provided [RCV005182606] | likely benign | 16 | 58574777 | 58574777 | Human | | name |
| 597893842 | CV3833485 | single nucleotide variant | NM_016284.5(CNOT1):c.6280-13T>G | not provided [RCV005180177] | likely benign | 16 | 58528661 | 58528661 | Human | | name |
| 598124950 | CV3885492 | single nucleotide variant | NM_016284.5(CNOT1):c.3640-10C>G | not specified [RCV005240070] | likely benign | 16 | 58547306 | 58547306 | Human | | name |
| 15177679 | CV731083 | single nucleotide variant | NM_016284.5(CNOT1):c.2971-10A>T | CNOT1-related disorder [RCV003920616]|not provided [RCV000884884]|not specified [RCV001817092] | benign | 16 | 58551829 | 58551829 | Human | 1 | name , alternate_id |
| 150336290 | CV1172875 | single nucleotide variant | NM_016284.5(CNOT1):c.1585-151C>T | not provided [RCV001540926] | benign | 16 | 58576733 | 58576733 | Human | | name |
| 150443766 | CV1216539 | single nucleotide variant | NM_016284.5(CNOT1):c.1343+200T>G | not provided [RCV001610838] | benign | 16 | 58580433 | 58580433 | Human | | name |
| 150467836 | CV1220083 | duplication | NM_016284.5(CNOT1):c.4992+132dup | not provided [RCV001614574] | benign | 16 | 58539624 | 58539625 | Human | | name |
| 150499691 | CV1224636 | single nucleotide variant | NM_016284.5(CNOT1):c.1045-164A>T | not provided [RCV001620467] | benign | 16 | 58581679 | 58581679 | Human | | name |
| 150506984 | CV1226479 | single nucleotide variant | NM_016284.5(CNOT1):c.3343-173T>C | not provided [RCV001635847] | benign | 16 | 58550071 | 58550071 | Human | | name |
| 150509780 | CV1228788 | single nucleotide variant | NM_016284.5(CNOT1):c.6604-151G>A | not provided [RCV001636573] | benign | 16 | 58525510 | 58525510 | Human | | name |
| 150430097 | CV1231972 | single nucleotide variant | NM_016284.5(CNOT1):c.3523-135G>A | not provided [RCV001641234] | benign | 16 | 58547817 | 58547817 | Human | | name |
| 150493587 | CV1238699 | single nucleotide variant | NM_016284.5(CNOT1):c.3201+124G>T | not provided [RCV001655243] | benign | 16 | 58551465 | 58551465 | Human | | name |
| 150494800 | CV1241463 | single nucleotide variant | NM_016284.5(CNOT1):c.1704+110G>A | not provided [RCV001655470] | benign | 16 | 58576353 | 58576353 | Human | | name |
| 150502924 | CV1241681 | single nucleotide variant | NM_016284.5(CNOT1):c.4434+373T>G | not provided [RCV001657272] | benign | 16 | 58543234 | 58543234 | Human | | name |
| 150457437 | CV1248784 | duplication | NM_016284.5(CNOT1):c.6604-204dup | not provided [RCV001668960] | benign | 16 | 58525562 | 58525563 | Human | | name |
| 150460099 | CV1253054 | single nucleotide variant | NM_016284.5(CNOT1):c.4992+101A>T | not provided [RCV001669382] | benign | 16 | 58539667 | 58539667 | Human | | name |
| 150491858 | CV1253830 | single nucleotide variant | NM_016284.5(CNOT1):c.5415-185T>C | not provided [RCV001674926] | benign | 16 | 58537405 | 58537405 | Human | | name |
| 150474282 | CV1263336 | single nucleotide variant | NM_016284.5(CNOT1):c.4137+107T>G | not provided [RCV001684858] | benign | 16 | 58545254 | 58545254 | Human | | name |
| 150499045 | CV1270755 | single nucleotide variant | NM_016284.5(CNOT1):c.1045-159A>T | not provided [RCV001689304] | benign | 16 | 58581674 | 58581674 | Human | | name |
| 150479465 | CV1273472 | single nucleotide variant | NM_016284.5(CNOT1):c.6454-163C>G | not provided [RCV001696676] | benign | 16 | 58526301 | 58526301 | Human | | name |
| 150493140 | CV1281695 | single nucleotide variant | NM_016284.5(CNOT1):c.1045-163A>G | not provided [RCV001716947] | benign | 16 | 58581678 | 58581678 | Human | | name |
| 150509025 | CV1284432 | single nucleotide variant | NM_016284.5(CNOT1):c.4680+204G>C | not provided [RCV001720540] | benign | 16 | 58542027 | 58542027 | Human | | name |
| 152999862 | CV1683409 | single nucleotide variant | NM_016284.5(CNOT1):c.4434+161G>A | See cases [RCV002252593] | uncertain significance | 16 | 58543446 | 58543446 | Human | | name |
| 329954435 | CV2669119 | duplication | NM_016284.5(CNOT1):c.4434+196dup | See cases [RCV003232952] | uncertain significance | 16 | 58543410 | 58543411 | Human | | name |
| 401934492 | CV2807989 | single nucleotide variant | NM_016284.5(CNOT1):c.4434+196C>T | not provided [RCV003411361] | likely benign | 16 | 58543411 | 58543411 | Human | | name |
| 405292601 | CV3192917 | single nucleotide variant | NM_016284.5(CNOT1):c.4434+153T>C | CNOT1-related disorder [RCV003964638] | likely benign | 16 | 58543454 | 58543454 | Human | | name , trait , alternate_id |
| 405295471 | CV3204814 | single nucleotide variant | NM_016284.5(CNOT1):c.4434+148T>G | CNOT1-related disorder [RCV003937374] | likely benign | 16 | 58543459 | 58543459 | Human | | name , trait , alternate_id |
| 12896977 | CV390165 | deletion | NM_016284.5(CNOT1):c.4434+195del | not provided [RCV001643146]|not specified [RCV000456075] | benign | 16 | 58543412 | 58543412 | Human | | name |
| 13827758 | CV578534 | duplication | NM_016284.5(CNOT1):c.4434+183dup | not provided [RCV000714767] | benign | 16 | 58543411 | 58543412 | Human | | name |
| 156179437 | CV2155324 | microsatellite | NM_014516.4(CNOT3):c.1407-12CT[3] | not provided [RCV003005658] | likely benign | 19 | 54149548 | 54149549 | Human | | name |
| 597878644 | CV3825956 | microsatellite | NM_014516.4(CNOT3):c.2163+17CT[2] | not provided [RCV005177830] | likely benign | 19 | 54153857 | 54153858 | Human | | name |
| 8590428 | CV125120 | single nucleotide variant | NM_001008225.2(CNOT4):c.-92-8056T>G | Lung cancer [RCV000105639] | uncertain significance | 7 | 135446479 | 135446479 | Human | | name |
| 156271579 | CV2136566 | microsatellite | NM_016284.5(CNOT1):c.6178-14TTTC[2] | not provided [RCV003009285] | likely benign | 16 | 58530350 | 58530353 | Human | | name |
| 405239058 | CV2983286 | duplication | NM_016284.5(CNOT1):c.1216-8_1216-5dup | not provided [RCV003683624] | likely benign | 16 | 58580764 | 58580765 | Human | | name |
| 405206974 | CV3041943 | deletion | NM_016284.5(CNOT1):c.309+17_309+22del | not provided [RCV003708034] | likely benign | 16 | 58587758 | 58587763 | Human | | name |
| 597953655 | CV3776463 | duplication | NM_016284.5(CNOT1):c.6060-23_6060-9dup | not provided [RCV005121591] | uncertain significance | 16 | 58532083 | 58532084 | Human | | name |
| 597875374 | CV3813109 | insertion | NM_016284.5(CNOT1):c.1585-5_1585-4insG | not provided [RCV005149045] | likely benign | 16 | 58576586 | 58576587 | Human | | name |
| 597963810 | CV3841419 | deletion | NM_016284.5(CNOT1):c.6918-12_6918-9del | not provided [RCV005193522] | likely benign | 16 | 58521326 | 58521329 | Human | | name |
| 150331068 | CV1169682 | duplication | NM_016284.5(CNOT1):c.102+166_102+168dup | not provided [RCV001536308] | benign | 16 | 58599050 | 58599051 | Human | | name |
| 150516323 | CV1228308 | deletion | NM_016284.5(CNOT1):c.1980-76_1980-75del | not provided [RCV001639114] | benign | 16 | 58560437 | 58560438 | Human | | name |
| 150456895 | CV1269138 | deletion | NM_016284.5(CNOT1):c.5415-43_5415-38del | not provided [RCV001692962] | benign | 16 | 58537258 | 58537263 | Human | | name |
| 9831918 | CV167116 | deletion | NM_014515.7(CNOT2):c.48+7810_48+9760del | Normal pregnancy [RCV000161682] | not provided | 12 | 70286084 | 70288034 | Human | | name |
| 9831919 | CV167117 | deletion | NM_014515.7(CNOT2):c.48+8340_48+9761del | Normal pregnancy [RCV000161683] | not provided | 12 | 70286613 | 70288034 | Human | | name |
| 156340698 | CV2179795 | deletion | NM_016284.5(CNOT1):c.4006+12_4006+14del | not provided [RCV003030268] | likely benign | 16 | 58546307 | 58546309 | Human | | name |
| 405150690 | CV3031326 | deletion | NM_014516.4(CNOT3):c.1606-15_1606-14del | not provided [RCV003703273] | likely benign | 19 | 54152211 | 54152212 | Human | | name |
| 597930962 | CV3827035 | microsatellite | NM_016284.5(CNOT1):c.4801-22_4801-19del | not provided [RCV005157048] | likely benign | 16 | 58539978 | 58539981 | Human | | name |
| 401911703 | CV2807990 | deletion | NM_016284.5(CNOT1):c.4434+194_4434+195del | CNOT1-related disorder [RCV003919128]|Holoprosencephaly 12 with or without pancreatic agenesis [RCV005356431]|not provided [RCV003426724] | benign|likely benign|uncertain significance | 16 | 58543412 | 58543413 | Human | 2 | name , alternate_id |
| 405290866 | CV3197150 | duplication | NM_016284.5(CNOT1):c.4434+194_4434+195dup | CNOT1-related disorder [RCV003984712] | likely benign | 16 | 58543411 | 58543412 | Human | | name , trait , alternate_id |
| 150453727 | CV1207357 | single nucleotide variant | NM_016284.5(CNOT1):c.4716C>T (p.Tyr1572=) | CNOT1-related disorder [RCV003983989]|Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588040]|Vissers-Bodmer syndrome [RCV001588041]|not provided [RCV001717835] | benign | 16 | 58541585 | 58541585 | Human | 2 | name , alternate_id |
| 150458141 | CV1207362 | single nucleotide variant | NM_016284.5(CNOT1):c.2919G>A (p.Gln973=) | CNOT1-related disorder [RCV003980731]|Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588049]|Vissers-Bodmer syndrome [RCV001588050]|not provided [RCV001655924] | benign | 16 | 58553833 | 58553833 | Human | 2 | name , alternate_id |
| 150481105 | CV1279663 | single nucleotide variant | NM_016284.5(CNOT1):c.2859C>T (p.Phe953=) | CNOT1-related disorder [RCV003976067]|not provided [RCV001714780] | benign | 16 | 58555283 | 58555283 | Human | 1 | name , alternate_id |
| 152128616 | CV1549072 | single nucleotide variant | NM_016284.5(CNOT1):c.896G>A (p.Arg299Gln) | CNOT1-related disorder [RCV003978787]|not provided [RCV002099176] | benign | 16 | 58583093 | 58583093 | Human | 1 | name , alternate_id |
| 152137692 | CV1603779 | single nucleotide variant | NM_016284.5(CNOT1):c.6849C>T (p.Tyr2283=) | CNOT1-related disorder [RCV003978577]|not provided [RCV002218945] | benign | 16 | 58523438 | 58523438 | Human | 1 | name , alternate_id |
| 152121741 | CV1628653 | single nucleotide variant | NM_014516.4(CNOT3):c.940C>T (p.Pro314Ser) | CNOT3-related disorder [RCV003926279]|not provided [RCV002175673] | benign|likely benign | 19 | 54148193 | 54148193 | Human | 1 | name , alternate_id |
| 152101811 | CV1667142 | single nucleotide variant | NM_014516.4(CNOT3):c.207C>T (p.Asn69=) | CNOT3-related disorder [RCV003960944]|not provided [RCV002214128] | likely benign | 19 | 54143698 | 54143698 | Human | 1 | name , alternate_id |
| 153304926 | CV1687373 | single nucleotide variant | NM_014516.4(CNOT3):c.1277C>T (p.Ala426Val) | CNOT3-related disorder [RCV003933730]|not provided [RCV002263191] | benign|likely benign | 19 | 54148530 | 54148530 | Human | 1 | alternate_id |
| 155644794 | CV1708805 | single nucleotide variant | NM_016284.5(CNOT1):c.3811C>T (p.Gln1271Ter) | CNOT1-related disorder [RCV004529123] | likely pathogenic | 16 | 58546689 | 58546689 | Human | | trait , alternate_id |
| 156414444 | CV1912297 | single nucleotide variant | NM_016284.5(CNOT1):c.4497T>C (p.Asn1499=) | CNOT1-related disorder [RCV003898829]|not provided [RCV002588615] | likely benign | 16 | 58542506 | 58542506 | Human | 1 | name , alternate_id |
| 156133495 | CV2022839 | single nucleotide variant | NM_016284.5(CNOT1):c.4734T>C (p.Asn1578=) | CNOT1-related disorder [RCV003936303]|not provided [RCV002740649] | likely benign | 16 | 58541567 | 58541567 | Human | 1 | name , alternate_id |
| 155913587 | CV2026002 | single nucleotide variant | NM_014516.4(CNOT3):c.1606G>A (p.Ala536Thr) | CNOT3-related disorder [RCV003943491]|Inborn genetic diseases [RCV002750314]|not provided [RCV002746199] | benign|likely benign | 19 | 54152226 | 54152226 | Human | 2 | alternate_id |
| 156136389 | CV2032738 | single nucleotide variant | NM_014516.4(CNOT3):c.1471T>G (p.Ser491Ala) | CNOT3-related disorder [RCV003903765]|Inborn genetic diseases [RCV002740745]|not provided [RCV002740744] | benign|likely benign | 19 | 54149624 | 54149624 | Human | 2 | name , alternate_id |
| 155953850 | CV2033270 | single nucleotide variant | NM_014516.4(CNOT3):c.939C>T (p.His313=) | CNOT3-related disorder [RCV003926441]|not provided [RCV002730822] | likely benign | 19 | 54148192 | 54148192 | Human | 1 | name , alternate_id |
| 155956606 | CV2033451 | single nucleotide variant | NM_014516.4(CNOT3):c.1188C>T (p.Ser396=) | CNOT3-related disorder [RCV003936306]|not provided [RCV002730960] | benign|likely benign | 19 | 54148441 | 54148441 | Human | 1 | name , alternate_id |
| 156160344 | CV2033804 | single nucleotide variant | NM_014516.4(CNOT3):c.1527G>A (p.Thr509=) | CNOT3-related disorder [RCV003916526]|not provided [RCV002741522] | likely benign | 19 | 54149680 | 54149680 | Human | 1 | name , alternate_id |
| 156170299 | CV2075516 | single nucleotide variant | NM_016284.5(CNOT1):c.4103C>T (p.Ala1368Val) | CNOT1-related disorder [RCV003395523]|not provided [RCV002851508] | uncertain significance | 16 | 58545395 | 58545395 | Human | 1 | alternate_id |
| 156164574 | CV2091624 | single nucleotide variant | NM_016284.5(CNOT1):c.6611A>G (p.Asn2204Ser) | CNOT1-related disorder [RCV003926469]|not provided [RCV002891126] | benign | 16 | 58525352 | 58525352 | Human | 1 | alternate_id |
| 156204648 | CV2110215 | single nucleotide variant | NM_016284.5(CNOT1):c.4857G>A (p.Leu1619=) | CNOT1-related disorder [RCV003984289]|not provided [RCV002957508] | benign | 16 | 58539903 | 58539903 | Human | 1 | name , alternate_id |
| 156196772 | CV2113719 | single nucleotide variant | NM_016284.5(CNOT1):c.2841A>C (p.Gly947=) | CNOT1-related disorder [RCV003916646]|not provided [RCV002957238] | likely benign | 16 | 58555301 | 58555301 | Human | 1 | name , alternate_id |
| 156223018 | CV2115221 | single nucleotide variant | NM_016284.5(CNOT1):c.2613A>G (p.Glu871=) | CNOT1-related disorder [RCV003961214]|not provided [RCV002932532] | benign|likely benign | 16 | 58555529 | 58555529 | Human | 1 | name , alternate_id |
| 155905424 | CV2134495 | single nucleotide variant | NM_016284.5(CNOT1):c.432C>T (p.Phe144=) | CNOT1-related disorder [RCV003916687]|not provided [RCV002967682] | benign|likely benign | 16 | 58587202 | 58587202 | Human | 1 | name , alternate_id |
| 401919748 | CV2798382 | single nucleotide variant | NM_014516.4(CNOT3):c.428A>C (p.Glu143Ala) | CNOT3-related disorder [RCV003402351] | uncertain significance | 19 | 54144277 | 54144277 | Human | | name , trait , alternate_id |
| 401937616 | CV2798823 | single nucleotide variant | NM_014516.4(CNOT3):c.1499T>C (p.Leu500Pro) | CNOT3-related disorder [RCV003416680] | uncertain significance | 19 | 54149652 | 54149652 | Human | | name , trait , alternate_id |
| 401902872 | CV2799748 | single nucleotide variant | NM_014516.4(CNOT3):c.1685C>T (p.Thr562Met) | CNOT3-related disorder [RCV003419121] | uncertain significance | 19 | 54152305 | 54152305 | Human | | name , trait , alternate_id |
| 401906065 | CV2802296 | duplication | NM_016284.5(CNOT1):c.2751dup (p.Gly918fs) | CNOT1-related disorder [RCV003421002] | likely pathogenic | 16 | 58555390 | 58555391 | Human | | name , trait , alternate_id |
| 401936187 | CV2802806 | single nucleotide variant | NM_014516.4(CNOT3):c.169C>G (p.Arg57Gly) | CNOT3-related disorder [RCV003414162] | likely pathogenic | 19 | 54143660 | 54143660 | Human | | name , trait , alternate_id |
| 401926239 | CV2803506 | single nucleotide variant | NM_016284.5(CNOT1):c.115C>T (p.His39Tyr) | CNOT1-related disorder [RCV003405890] | uncertain significance | 16 | 58588894 | 58588894 | Human | | name , trait , alternate_id |
| 401901745 | CV2804569 | single nucleotide variant | NM_014515.7(CNOT2):c.40A>C (p.Asn14His) | CNOT2-related disorder [RCV003393179] | uncertain significance | 12 | 70278266 | 70278266 | Human | | name , trait , alternate_id |
| 401902997 | CV2804778 | single nucleotide variant | NM_014516.4(CNOT3):c.2128G>A (p.Glu710Lys) | CNOT3-related disorder [RCV003394317] | uncertain significance | 19 | 54153805 | 54153805 | Human | | name , trait , alternate_id |
| 404984877 | CV2849839 | single nucleotide variant | NM_014516.4(CNOT3):c.1752G>A (p.Pro584=) | CNOT3-related disorder [RCV003966451]|Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003492974]|not provided [RCV003708826] | likely benign|uncertain significance | 19 | 54152474 | 54152474 | Human | 1 | name , alternate_id |
| 405022386 | CV2877516 | single nucleotide variant | NM_016284.5(CNOT1):c.1525A>G (p.Ile509Val) | CNOT1-related disorder [RCV003946647]|Inborn genetic diseases [RCV004368985]|not provided [RCV003577714] | likely benign|uncertain significance | 16 | 58578758 | 58578758 | Human | 2 | name , alternate_id |
| 405235889 | CV2887740 | single nucleotide variant | NM_016284.5(CNOT1):c.4434T>A (p.Arg1478=) | CNOT1-related disorder [RCV003939091]|not provided [RCV003556387] | benign | 16 | 58543607 | 58543607 | Human | 1 | name , alternate_id |
| 405165351 | CV3018768 | single nucleotide variant | NM_014516.4(CNOT3):c.1962C>T (p.Pro654=) | CNOT3-related disorder [RCV003929294]|not provided [RCV003704264] | benign|likely benign | 19 | 54152924 | 54152924 | Human | 1 | name , alternate_id |
| 405123099 | CV3020842 | single nucleotide variant | NM_014516.4(CNOT3):c.201G>A (p.Ala67=) | CNOT3-related disorder [RCV003909095]|not provided [RCV003700867] | likely benign | 19 | 54143692 | 54143692 | Human | 1 | name , alternate_id |
| 405177735 | CV3027480 | single nucleotide variant | NM_014516.4(CNOT3):c.1686G>A (p.Thr562=) | CNOT3-related disorder [RCV003919323]|not provided [RCV003705245] | likely benign | 19 | 54152306 | 54152306 | Human | 1 | name , alternate_id |
| 405179256 | CV3027664 | single nucleotide variant | NM_014516.4(CNOT3):c.1473A>G (p.Ser491=) | CNOT3-related disorder [RCV003909093]|not provided [RCV003705374] | benign|likely benign | 19 | 54149626 | 54149626 | Human | 1 | name , alternate_id |
| 405134040 | CV3051854 | single nucleotide variant | NM_016284.5(CNOT1):c.2520T>C (p.Phe840=) | CNOT1-related disorder [RCV003948966]|not provided [RCV003725083] | likely benign | 16 | 58555868 | 58555868 | Human | 1 | name , alternate_id |
| 405283266 | CV3191309 | single nucleotide variant | NM_016284.5(CNOT1):c.6673C>G (p.Gln2225Glu) | CNOT1-related disorder [RCV003921707] | uncertain significance | 16 | 58525290 | 58525290 | Human | | trait , alternate_id |
| 405259380 | CV3194793 | single nucleotide variant | NM_014516.4(CNOT3):c.882T>G (p.Ser294Arg) | CNOT3-related disorder [RCV003894181] | uncertain significance | 19 | 54146645 | 54146645 | Human | | name , trait , alternate_id |
| 405274117 | CV3195037 | single nucleotide variant | NM_014516.4(CNOT3):c.438G>A (p.Val146=) | CNOT3-related disorder [RCV003902278] | likely benign | 19 | 54144287 | 54144287 | Human | | name , trait , alternate_id |
| 405288318 | CV3197326 | single nucleotide variant | NM_014516.4(CNOT3):c.1698C>G (p.Thr566=) | CNOT3-related disorder [RCV003982422] | likely benign | 19 | 54152318 | 54152318 | Human | | name , trait , alternate_id |
| 405258302 | CV3203233 | single nucleotide variant | NM_014516.4(CNOT3):c.537C>T (p.His179=) | CNOT3-related disorder [RCV003941830] | likely benign | 19 | 54145651 | 54145651 | Human | | name , trait , alternate_id |
| 405274405 | CV3211746 | single nucleotide variant | NM_014516.4(CNOT3):c.819C>T (p.Ser273=) | CNOT3-related disorder [RCV003951545] | likely benign | 19 | 54146025 | 54146025 | Human | | name , trait , alternate_id |
| 405265974 | CV3215827 | single nucleotide variant | NM_014516.4(CNOT3):c.1154C>T (p.Thr385Met) | CNOT3-related disorder [RCV003946974]|not provided [RCV005101864] | likely benign | 19 | 54148407 | 54148407 | Human | 1 | name , alternate_id |
| 405295465 | CV3216095 | microsatellite | NM_014516.4(CNOT3):c.1191AGGCGG[3] (p.Gly402_Ser403insGlyGly) | CNOT3-related disorder [RCV003937414]|Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004794668]|not provided [RCV005102904] | benign|uncertain significance | 19 | 54148439 | 54148440 | Human | | alternate_id |
| 405278581 | CV3216684 | single nucleotide variant | NM_016284.5(CNOT1):c.3560C>T (p.Ser1187Leu) | CNOT1-related disorder [RCV003954575] | uncertain significance | 16 | 58547645 | 58547645 | Human | | trait , alternate_id |
| 405279366 | CV3217433 | single nucleotide variant | NM_014515.7(CNOT2):c.285G>A (p.Gln95=) | CNOT2-related disorder [RCV003976851] | likely benign | 12 | 70329469 | 70329469 | Human | | name , trait , alternate_id |
| 405283378 | CV3218592 | single nucleotide variant | NM_014516.4(CNOT3):c.1935G>A (p.Thr645=) | CNOT3-related disorder [RCV003957370] | likely benign | 19 | 54152897 | 54152897 | Human | | name , trait , alternate_id |
| 405289877 | CV3219131 | single nucleotide variant | NM_016284.5(CNOT1):c.162T>C (p.His54=) | CNOT1-related disorder [RCV003962061] | likely benign | 16 | 58588847 | 58588847 | Human | | name , trait , alternate_id |
| 408384817 | CV3503651 | single nucleotide variant | NM_016284.5(CNOT1):c.6637C>T (p.Gln2213Ter) | CNOT1-related disorder [RCV004732138] | likely pathogenic | 16 | 58525326 | 58525326 | Human | | trait , alternate_id |
| 408383673 | CV3507072 | microsatellite | NM_014516.4(CNOT3):c.2014TTC[1] (p.Phe673del) | CNOT3-related disorder [RCV004730802] | pathogenic | 19 | 54152974 | 54152976 | Human | | trait , alternate_id |
| 408365599 | CV3507479 | single nucleotide variant | NM_016284.5(CNOT1):c.681A>C (p.Leu227Phe) | CNOT1-related disorder [RCV004755075] | uncertain significance | 16 | 58585463 | 58585463 | Human | | name , trait , alternate_id |
| 408365613 | CV3508490 | single nucleotide variant | NM_016284.5(CNOT1):c.568T>G (p.Phe190Val) | CNOT1-related disorder [RCV004755143] | uncertain significance | 16 | 58586614 | 58586614 | Human | | name , trait , alternate_id |
| 408377567 | CV3509385 | single nucleotide variant | NM_014516.4(CNOT3):c.1406C>G (p.Ser469Trp) | CNOT3-related disorder [RCV004751085] | uncertain significance | 19 | 54148743 | 54148743 | Human | | name , trait , alternate_id |
| 408378651 | CV3515001 | single nucleotide variant | NM_014516.4(CNOT3):c.242G>A (p.Arg81His) | CNOT3-related disorder [RCV004752372] | uncertain significance | 19 | 54143733 | 54143733 | Human | | name , trait , alternate_id |
| 408366793 | CV3516871 | single nucleotide variant | NM_014515.7(CNOT2):c.269G>A (p.Ser90Asn) | CNOT2-related disorder [RCV004757033] | uncertain significance | 12 | 70329453 | 70329453 | Human | | name , trait , alternate_id |
| 408380509 | CV3517997 | single nucleotide variant | NM_016284.5(CNOT1):c.6610A>G (p.Asn2204Asp) | CNOT1-related disorder [RCV004754222] | uncertain significance | 16 | 58525353 | 58525353 | Human | | trait , alternate_id |
| 15040335 | CV682788 | indel | NM_014516.4(CNOT3):c.732dup (p.Ser245fs) | CNOT3-related disorder [RCV004751757]|Inborn genetic diseases [RCV004973028]|Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV000856720] | pathogenic|likely pathogenic|uncertain significance | 19 | 54145930 | 54145931 | Human | | name , alternate_id |
| 15173653 | CV703763 | single nucleotide variant | NM_016284.5(CNOT1):c.4439C>T (p.Ala1480Val) | CNOT1-related disorder [RCV003943022]|Inborn genetic diseases [RCV002546021]|not provided [RCV000950252] | benign|likely benign | 16 | 58542564 | 58542564 | Human | 2 | alternate_id |
| 15156318 | CV715002 | single nucleotide variant | NM_016284.5(CNOT1):c.5829T>C (p.Ile1943=) | CNOT1-related disorder [RCV003928455]|not provided [RCV000969090] | benign | 16 | 58534213 | 58534213 | Human | 1 | name , alternate_id |
| 15170319 | CV726720 | single nucleotide variant | NM_016284.5(CNOT1):c.1029C>T (p.Asp343=) | CNOT1-related disorder [RCV003940473]|not provided [RCV000883448] | benign | 16 | 58582808 | 58582808 | Human | 1 | name , alternate_id |
| 38463943 | CV961328 | single nucleotide variant | NM_016284.5(CNOT1):c.3265G>C (p.Val1089Leu) | CNOT1-related disorder [RCV004545818]|not provided [RCV001773568] | uncertain significance|not provided | 16 | 58551209 | 58551209 | Human | 1 | alternate_id |
| 38463940 | CV961329 | single nucleotide variant | NM_016284.5(CNOT1):c.3113C>T (p.Thr1038Ile) | CNOT1-related disorder [RCV004545817]|not provided [RCV001773567] | uncertain significance|not provided | 16 | 58551677 | 58551677 | Human | 1 | alternate_id |
| 405236641 | CV2973491 | single nucleotide variant | NM_016284.5(CNOT1):c.21G>T (p.Ser7=) | not provided [RCV003683192] | likely benign | 16 | 58599317 | 58599317 | Human | | name |
| 152158861 | CV1544289 | variation | NM_014516.4(CNOT3):c.729= (p.Pro243=) | not provided [RCV002122838] | benign | 19 | 54145935 | 54145935 | Human | | name |
| 155955102 | CV1936290 | single nucleotide variant | NM_014516.4(CNOT3):c.96C>T (p.Leu32=) | not provided [RCV002511954] | likely benign | 19 | 54143444 | 54143444 | Human | | name |
| 156149620 | CV2128607 | single nucleotide variant | NM_016284.5(CNOT1):c.84C>T (p.Ser28=) | not provided [RCV002928856] | benign | 16 | 58599254 | 58599254 | Human | | name |
| 405144926 | CV3027387 | single nucleotide variant | NM_014516.4(CNOT3):c.57C>T (p.Ser19=) | not provided [RCV003702836] | likely benign | 19 | 54143150 | 54143150 | Human | | name |
| 408391292 | CV3521283 | single nucleotide variant | NM_014515.7(CNOT2):c.7A>G (p.Arg3Gly) | not provided [RCV004763105] | uncertain significance | 12 | 70278233 | 70278233 | Human | | name |
| 38598868 | CV964893 | single nucleotide variant | NM_014516.4(CNOT3):c.93G>A (p.Lys31=) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV001254143] | likely pathogenic | 19 | 54143186 | 54143186 | Human | 1 | name |
| 150505140 | CV1213456 | single nucleotide variant | NM_014516.4(CNOT3):c.1215= (p.Gly405=) | not provided [RCV001595712] | benign | 19 | 54148468 | 54148468 | Human | | name |
| 156217392 | CV1910727 | single nucleotide variant | NM_016284.5(CNOT1):c.159G>A (p.Ser53=) | not provided [RCV002596325] | likely benign | 16 | 58588850 | 58588850 | Human | | name |
| 156078403 | CV2025824 | single nucleotide variant | NM_014516.4(CNOT3):c.114G>A (p.Ala38=) | not provided [RCV002760544] | benign|likely benign | 19 | 54143462 | 54143462 | Human | | name |
| 156393692 | CV2181637 | single nucleotide variant | NM_014516.4(CNOT3):c.174G>A (p.Leu58=) | not provided [RCV003051609] | likely benign | 19 | 54143665 | 54143665 | Human | | name |
| 155990838 | CV2276514 | single nucleotide variant | NM_013354.7(CNOT7):c.19G>T (p.Asp7Tyr) | not specified [RCV004144227] | uncertain significance | 8 | 17245134 | 17245134 | Human | | name |
| 156319993 | CV2400229 | single nucleotide variant | NM_013354.7(CNOT7):c.14C>T (p.Thr5Ile) | not specified [RCV004243021] | uncertain significance | 8 | 17245139 | 17245139 | Human | | name |
| 401772218 | CV2687452 | duplication | NM_014516.4(CNOT3):c.76dup (p.Glu26fs) | Inborn genetic diseases [RCV003284968] | pathogenic | 19 | 54143168 | 54143169 | Human | 1 | name |
| 405267861 | CV3186924 | single nucleotide variant | NM_014516.4(CNOT3):c.213C>A (p.Ile71=) | not provided [RCV003887007] | likely benign | 19 | 54143704 | 54143704 | Human | | name |
| 405674111 | CV3304588 | single nucleotide variant | NM_017546.5(CNOT11):c.5C>T (p.Pro2Leu) | not specified [RCV004441973] | uncertain significance | 2 | 101252969 | 101252969 | Human | | name |
| 407495945 | CV3496583 | single nucleotide variant | NM_014516.4(CNOT3):c.26G>A (p.Gly9Asp) | not provided [RCV004696784] | uncertain significance | 19 | 54143119 | 54143119 | Human | | name |
| 596946876 | CV3546933 | single nucleotide variant | NM_014516.4(CNOT3):c.25G>C (p.Gly9Arg) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810739] | likely pathogenic | 19 | 54143003 | 54143003 | Human | 1 | name |
| 596946894 | CV3546951 | single nucleotide variant | NM_014516.4(CNOT3):c.258G>A (p.Thr86=) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810757] | likely pathogenic | 19 | 54143749 | 54143749 | Human | 1 | name |
| 597798987 | CV3653963 | single nucleotide variant | NM_015442.3(CNOT10):c.4G>A (p.Ala2Thr) | not specified [RCV004904977] | uncertain significance | 3 | 32685464 | 32685464 | Human | | name |
| 597863102 | CV3813574 | single nucleotide variant | NM_016284.5(CNOT1):c.159G>T (p.Ser53=) | not provided [RCV005146836] | likely benign | 16 | 58588850 | 58588850 | Human | | name |
| 597976357 | CV3829575 | single nucleotide variant | NM_014516.4(CNOT3):c.111C>T (p.Asn37=) | not provided [RCV005169842] | likely benign | 19 | 54143459 | 54143459 | Human | | name |
| 150468093 | CV1207363 | single nucleotide variant | NM_016284.5(CNOT1):c.909A>G (p.Gly303=) | Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588051]|Vissers-Bodmer syndrome [RCV001588052]|not provided [RCV001619991] | benign | 16 | 58583080 | 58583080 | Human | 2 | name |
| 150528623 | CV1288412 | single nucleotide variant | NM_014515.7(CNOT2):c.95G>A (p.Gly32Glu) | Inborn genetic diseases [RCV002539758]|not provided [RCV001726880] | likely benign | 12 | 70310941 | 70310941 | Human | 1 | name |
| 152093383 | CV1593430 | single nucleotide variant | NM_016284.5(CNOT1):c.660C>T (p.Pro220=) | not provided [RCV002094502] | likely benign | 16 | 58585484 | 58585484 | Human | | name |
| 155265107 | CV1695478 | single nucleotide variant | NM_016284.5(CNOT1):c.83G>C (p.Ser28Thr) | not provided [RCV002280041] | uncertain significance | 16 | 58599255 | 58599255 | Human | | name |
| 156353893 | CV1933118 | single nucleotide variant | NM_016284.5(CNOT1):c.927A>G (p.Pro309=) | not provided [RCV002651114] | likely benign | 16 | 58583062 | 58583062 | Human | | name |
| 156030349 | CV2022629 | single nucleotide variant | NM_014516.4(CNOT3):c.594C>T (p.Asp198=) | not provided [RCV002735782] | benign|likely benign | 19 | 54145708 | 54145708 | Human | | name |
| 156134244 | CV2022870 | single nucleotide variant | NM_014516.4(CNOT3):c.657C>T (p.Phe219=) | not provided [RCV002740674] | benign|likely benign | 19 | 54145771 | 54145771 | Human | | name |
| 156179757 | CV2023284 | single nucleotide variant | NM_014516.4(CNOT3):c.975C>T (p.Ser325=) | not provided [RCV002765579] | likely benign | 19 | 54148228 | 54148228 | Human | | name |
| 156028058 | CV2025825 | single nucleotide variant | NM_014516.4(CNOT3):c.726C>A (p.Ser242=) | not provided [RCV002735685] | benign|likely benign | 19 | 54145932 | 54145932 | Human | | name |
| 155913721 | CV2026050 | single nucleotide variant | NM_014516.4(CNOT3):c.474C>T (p.Gly158=) | not provided [RCV002750323] | benign | 19 | 54144323 | 54144323 | Human | | name |
| 156249319 | CV2029541 | single nucleotide variant | NM_016284.5(CNOT1):c.948G>A (p.Pro316=) | not provided [RCV002745936] | uncertain significance | 16 | 58582889 | 58582889 | Human | | name |
| 156138282 | CV2032812 | single nucleotide variant | NM_014516.4(CNOT3):c.729C>T (p.Pro243=) | not provided [RCV002740807] | uncertain significance | 19 | 54145935 | 54145935 | Human | | name |
| 155963896 | CV2034094 | single nucleotide variant | NM_014516.4(CNOT3):c.693C>T (p.Leu231=) | not provided [RCV002731303] | benign | 19 | 54145807 | 54145807 | Human | | name |
| 156090320 | CV2034374 | single nucleotide variant | NM_014516.4(CNOT3):c.417G>A (p.Val139=) | not provided [RCV002760920] | likely benign | 19 | 54144266 | 54144266 | Human | | name |
| 156060738 | CV2034523 | single nucleotide variant | NM_014516.4(CNOT3):c.711G>A (p.Ala237=) | not provided [RCV002736829] | likely benign | 19 | 54145917 | 54145917 | Human | | name |
| 155927870 | CV2041583 | single nucleotide variant | NM_014516.4(CNOT3):c.489G>A (p.Gln163=) | not provided [RCV002751016] | likely benign | 19 | 54145603 | 54145603 | Human | | name |
| 155951051 | CV2084508 | single nucleotide variant | NM_014516.4(CNOT3):c.732C>A (p.Pro244=) | not provided [RCV002880503] | likely benign | 19 | 54145938 | 54145938 | Human | | name |
| 156106407 | CV2089111 | single nucleotide variant | NM_016284.5(CNOT1):c.94A>G (p.Ile32Val) | not provided [RCV002848272] | uncertain significance | 16 | 58599244 | 58599244 | Human | | name |
| 156199214 | CV2092413 | single nucleotide variant | NM_016284.5(CNOT1):c.630G>A (p.Leu210=) | not provided [RCV002917726] | likely benign | 16 | 58586552 | 58586552 | Human | | name |
| 156370395 | CV2171096 | single nucleotide variant | NM_014516.4(CNOT3):c.561G>C (p.Leu187=) | not provided [RCV003032180] | likely benign | 19 | 54145675 | 54145675 | Human | | name |
| 401911706 | CV2807994 | single nucleotide variant | NM_016284.5(CNOT1):c.858A>T (p.Thr286=) | not provided [RCV003426726] | likely benign | 16 | 58583131 | 58583131 | Human | | name |
| 401911707 | CV2807995 | single nucleotide variant | NM_016284.5(CNOT1):c.669C>T (p.Leu223=) | not provided [RCV003426727] | likely benign | 16 | 58585475 | 58585475 | Human | | name |
| 401903315 | CV2807996 | single nucleotide variant | NM_016284.5(CNOT1):c.480C>T (p.Tyr160=) | not provided [RCV003419350] | likely benign | 16 | 58586702 | 58586702 | Human | | name |
| 401929176 | CV2818742 | single nucleotide variant | NM_014516.4(CNOT3):c.519C>T (p.Ile173=) | not provided [RCV003407103] | likely benign | 19 | 54145633 | 54145633 | Human | | name |
| 405057690 | CV3019672 | single nucleotide variant | NM_014516.4(CNOT3):c.651C>T (p.Pro217=) | not provided [RCV003697457] | benign | 19 | 54145765 | 54145765 | Human | | name |
| 405145667 | CV3023905 | single nucleotide variant | NM_014516.4(CNOT3):c.780G>A (p.Thr260=) | not provided [RCV003702909] | likely benign | 19 | 54145986 | 54145986 | Human | | name |
| 405068468 | CV3030992 | single nucleotide variant | NM_016284.5(CNOT1):c.486C>T (p.Asp162=) | not provided [RCV003698176] | likely benign | 16 | 58586696 | 58586696 | Human | | name |
| 402486646 | CV3033987 | single nucleotide variant | NM_014516.4(CNOT3):c.396C>T (p.Ile132=) | not provided [RCV003713359] | likely benign | 19 | 54144245 | 54144245 | Human | | name |
| 405225588 | CV3058483 | single nucleotide variant | NM_016284.5(CNOT1):c.621T>C (p.Leu207=) | not provided [RCV003733985] | likely benign | 16 | 58586561 | 58586561 | Human | | name |
| 407470665 | CV3425728 | single nucleotide variant | NM_013354.7(CNOT7):c.88G>A (p.Val30Ile) | not specified [RCV004615504] | uncertain significance | 8 | 17245065 | 17245065 | Human | | name |
| 408383774 | CV3519984 | single nucleotide variant | NM_014516.4(CNOT3):c.37C>T (p.Arg13Cys) | not provided [RCV004759805] | uncertain significance | 19 | 54143130 | 54143130 | Human | | name |
| 408380712 | CV3523636 | single nucleotide variant | NM_016284.5(CNOT1):c.59T>C (p.Leu20Ser) | not provided [RCV004766034] | uncertain significance | 16 | 58599279 | 58599279 | Human | | name |
| 596946892 | CV3546949 | single nucleotide variant | NM_014516.4(CNOT3):c.70C>T (p.Gln24Ter) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810755] | pathogenic | 19 | 54143163 | 54143163 | Human | 1 | name |
| 596946893 | CV3546950 | single nucleotide variant | NM_014516.4(CNOT3):c.91A>T (p.Lys31Ter) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810756] | pathogenic | 19 | 54143184 | 54143184 | Human | 1 | name |
| 597858110 | CV3822356 | single nucleotide variant | NM_014516.4(CNOT3):c.720C>T (p.Ala240=) | not provided [RCV005174654] | likely benign | 19 | 54145926 | 54145926 | Human | | name |
| 597892481 | CV3822850 | single nucleotide variant | NM_016284.5(CNOT1):c.357C>T (p.Leu119=) | not provided [RCV005179926] | likely benign | 16 | 58587366 | 58587366 | Human | | name |
| 597881830 | CV3822951 | single nucleotide variant | NM_014516.4(CNOT3):c.729C>A (p.Pro243=) | not provided [RCV005178277] | uncertain significance | 19 | 54145935 | 54145935 | Human | | name |
| 597903346 | CV3845931 | single nucleotide variant | NM_016284.5(CNOT1):c.874A>C (p.Arg292=) | not provided [RCV005181553] | likely benign | 16 | 58583115 | 58583115 | Human | | name |
| 597831629 | CV3863882 | duplication | NM_014515.7(CNOT2):c.*23dup (p.Ter541=) | Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [RCV005208296] | uncertain significance | 12 | 70353913 | 70353914 | Human | 1 | name |
| 617153614 | CV4016688 | single nucleotide variant | NM_014516.4(CNOT3):c.97C>T (p.His33Tyr) | not provided [RCV005415785] | uncertain significance | 19 | 54143445 | 54143445 | Human | | name |
| 40816260 | CV966898 | single nucleotide variant | NM_016284.5(CNOT1):c.76C>T (p.Arg26Ter) | Inborn genetic diseases [RCV003382493]|See cases [RCV001420342]|Vissers-Bodmer syndrome [RCV001257577] | pathogenic | 16 | 58599262 | 58599262 | Human | 2 | name |
| 40816261 | CV966899 | single nucleotide variant | NM_016284.5(CNOT1):c.97C>T (p.Gln33Ter) | Vissers-Bodmer syndrome [RCV001257578] | pathogenic | 16 | 58599241 | 58599241 | Human | 1 | name |
| 152159086 | CV1544333 | single nucleotide variant | NM_014516.4(CNOT3):c.2010A>T (p.Thr670=) | not provided [RCV002122874] | benign | 19 | 54152972 | 54152972 | Human | | name |
| 152043853 | CV1637751 | single nucleotide variant | NM_014516.4(CNOT3):c.1698C>T (p.Thr566=) | not provided [RCV002144852] | likely benign | 19 | 54152318 | 54152318 | Human | | name |
| 152154531 | CV1667925 | single nucleotide variant | NM_016284.5(CNOT1):c.158C>T (p.Ser53Leu) | not provided [RCV002221818] | uncertain significance | 16 | 58588851 | 58588851 | Human | | name |
| 155268654 | CV1705481 | single nucleotide variant | NM_016284.5(CNOT1):c.281C>T (p.Ala94Val) | not provided [RCV002286086] | uncertain significance | 16 | 58587808 | 58587808 | Human | | name |
| 155268974 | CV1705804 | single nucleotide variant | NM_005444.3(CNOT9):c.136C>G (p.Arg46Gly) | CNOT9-associated neurodevelopmental disorder [RCV002286459] | likely pathogenic | 2 | 218580672 | 218580672 | Human | | name |
| 155710450 | CV1770635 | single nucleotide variant | NM_014516.4(CNOT3):c.241C>A (p.Arg81Ser) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV002302842] | likely pathogenic | 19 | 54143732 | 54143732 | Human | 1 | name |
| 155794887 | CV1861111 | deletion | NM_016284.5(CNOT1):c.550del (p.Leu184fs) | Vissers-Bodmer syndrome [RCV002468824] | likely pathogenic | 16 | 58586632 | 58586632 | Human | 1 | name |
| 156154178 | CV2023218 | single nucleotide variant | NM_016284.5(CNOT1):c.2382T>A (p.Leu794=) | not provided [RCV002741319] | likely benign | 16 | 58556944 | 58556944 | Human | | name |
| 155918371 | CV2030130 | single nucleotide variant | NM_016284.5(CNOT1):c.2991G>A (p.Gln997=) | not provided [RCV002750581] | likely benign | 16 | 58551799 | 58551799 | Human | | name |
| 156136053 | CV2032726 | single nucleotide variant | NM_014516.4(CNOT3):c.1275C>T (p.Gly425=) | not provided [RCV002740733] | likely benign | 19 | 54148528 | 54148528 | Human | | name |
| 156218486 | CV2035603 | single nucleotide variant | NM_016284.5(CNOT1):c.112C>T (p.Arg38Trp) | not provided [RCV002766898] | uncertain significance | 16 | 58588897 | 58588897 | Human | | name |
| 156194310 | CV2038144 | single nucleotide variant | NM_016284.5(CNOT1):c.1998A>G (p.Leu666=) | not provided [RCV002766011] | likely benign | 16 | 58560344 | 58560344 | Human | | name |
| 156061249 | CV2044856 | single nucleotide variant | NM_016284.5(CNOT1):c.1773T>G (p.Arg591=) | not provided [RCV002736846] | likely benign | 16 | 58575061 | 58575061 | Human | | name |
| 155925935 | CV2045180 | single nucleotide variant | NM_016284.5(CNOT1):c.2079A>G (p.Pro693=) | not provided [RCV002750930] | likely benign | 16 | 58560263 | 58560263 | Human | | name |
| 156337327 | CV2095942 | single nucleotide variant | NM_014516.4(CNOT3):c.1038C>T (p.Pro346=) | not provided [RCV002900279] | likely benign | 19 | 54148291 | 54148291 | Human | | name |
| 156250603 | CV2098017 | single nucleotide variant | NM_014516.4(CNOT3):c.1665C>T (p.Gly555=) | not provided [RCV002895245] | likely benign | 19 | 54152285 | 54152285 | Human | | name |
| 156303699 | CV2105111 | single nucleotide variant | NM_016284.5(CNOT1):c.2949A>G (p.Gln983=) | not provided [RCV002922709] | likely benign | 16 | 58553803 | 58553803 | Human | | name |
| 156021503 | CV2105741 | single nucleotide variant | NM_016284.5(CNOT1):c.2892A>G (p.Arg964=) | not provided [RCV002923087] | uncertain significance | 16 | 58553860 | 58553860 | Human | | name |
| 156227394 | CV2115410 | single nucleotide variant | NM_014516.4(CNOT3):c.1176C>T (p.Ser392=) | not provided [RCV002918801] | likely benign | 19 | 54148429 | 54148429 | Human | | name |
| 156272168 | CV2136603 | single nucleotide variant | NM_014516.4(CNOT3):c.1281C>T (p.Thr427=) | not provided [RCV003009306] | uncertain significance | 19 | 54148534 | 54148534 | Human | | name |
| 155966401 | CV2142567 | single nucleotide variant | NM_016284.5(CNOT1):c.236C>T (p.Ala79Val) | Inborn genetic diseases [RCV004065220]|not provided [RCV002995408] | likely benign|uncertain significance | 16 | 58587853 | 58587853 | Human | 1 | name |
| 156031454 | CV2156459 | single nucleotide variant | NM_016284.5(CNOT1):c.2070A>G (p.Gly690=) | not provided [RCV003018693] | likely benign | 16 | 58560272 | 58560272 | Human | | name |
| 155931680 | CV2156686 | single nucleotide variant | NM_016284.5(CNOT1):c.2985A>G (p.Gly995=) | not provided [RCV003013667] | likely benign | 16 | 58551805 | 58551805 | Human | | name |
| 156352627 | CV2157714 | single nucleotide variant | NM_016284.5(CNOT1):c.1875T>G (p.Pro625=) | not provided [RCV003030991] | likely benign | 16 | 58574713 | 58574713 | Human | | name |
| 156247033 | CV2174335 | single nucleotide variant | NM_014516.4(CNOT3):c.2169C>G (p.Thr723=) | not provided [RCV003043653] | likely benign | 19 | 54155314 | 54155314 | Human | | name |
| 156110498 | CV2177326 | single nucleotide variant | NM_016284.5(CNOT1):c.1686T>C (p.Asp562=) | not provided [RCV003055072] | likely benign | 16 | 58576481 | 58576481 | Human | | name |
| 156334332 | CV2191622 | single nucleotide variant | NM_016284.5(CNOT1):c.1671G>A (p.Leu557=) | not provided [RCV003063876] | likely benign | 16 | 58576496 | 58576496 | Human | | name |
| 156334564 | CV2191670 | single nucleotide variant | NM_014516.4(CNOT3):c.1407G>A (p.Ser469=) | not provided [RCV003063889] | uncertain significance | 19 | 54149560 | 54149560 | Human | | name |
| 156246941 | CV2196306 | single nucleotide variant | NM_144571.3(CNOT6L):c.89A>C (p.Asn30Thr) | not specified [RCV004073651] | uncertain significance | 4 | 77776309 | 77776309 | Human | | name |
| 156283195 | CV2288880 | single nucleotide variant | NM_014516.4(CNOT3):c.137C>G (p.Ala46Gly) | Inborn genetic diseases [RCV002878331] | uncertain significance | 19 | 54143485 | 54143485 | Human | 1 | name |
| 329953729 | CV2668548 | single nucleotide variant | NM_005444.3(CNOT9):c.137G>A (p.Arg46Gln) | not provided [RCV003230201] | uncertain significance | 2 | 218580673 | 218580673 | Human | | name |
| 401720171 | CV2737189 | deletion | NM_014516.4(CNOT3):c.566del (p.Met189fs) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003314128] | pathogenic | 19 | 54145680 | 54145680 | Human | 1 | name |
| 401865557 | CV2749269 | single nucleotide variant | NM_016284.5(CNOT1):c.225T>G (p.Ile75Met) | not specified [RCV003330467] | uncertain significance | 16 | 58587864 | 58587864 | Human | | name |
| 401879317 | CV2791394 | single nucleotide variant | NM_013354.7(CNOT7):c.170A>G (p.Asn57Ser) | not specified [RCV004358793] | uncertain significance | 8 | 17243133 | 17243133 | Human | | name |
| 401929182 | CV2818746 | single nucleotide variant | NM_014516.4(CNOT3):c.1959A>C (p.Pro653=) | not provided [RCV003407105] | likely benign | 19 | 54152921 | 54152921 | Human | | name |
| 401943408 | CV2840031 | single nucleotide variant | NM_014515.7(CNOT2):c.145A>G (p.Met49Val) | Inborn genetic diseases [RCV004364725]|not provided [RCV003456818] | likely benign | 12 | 70310991 | 70310991 | Human | 1 | name |
| 404983403 | CV2849836 | single nucleotide variant | NM_016284.5(CNOT1):c.287A>G (p.Asp96Gly) | not provided [RCV003490578] | uncertain significance | 16 | 58587802 | 58587802 | Human | | name |
| 405192748 | CV2872103 | single nucleotide variant | NM_016284.5(CNOT1):c.2811T>C (p.Tyr937=) | not provided [RCV003550489] | likely benign | 16 | 58555331 | 58555331 | Human | | name |
| 405227055 | CV2888972 | single nucleotide variant | NM_014516.4(CNOT3):c.1128C>T (p.Ala376=) | not provided [RCV003554845] | likely benign | 19 | 54148381 | 54148381 | Human | | name |
| 402521168 | CV2902631 | single nucleotide variant | NM_014516.4(CNOT3):c.1590C>A (p.Thr530=) | not provided [RCV003575787] | likely benign | 19 | 54149743 | 54149743 | Human | | name |
| 405065449 | CV2939913 | single nucleotide variant | NM_016284.5(CNOT1):c.193G>T (p.Gly65Cys) | not provided [RCV003659023] | uncertain significance | 16 | 58588816 | 58588816 | Human | | name |
| 405072115 | CV2940941 | single nucleotide variant | NM_014516.4(CNOT3):c.1932G>A (p.Pro644=) | not provided [RCV003663938] | likely benign | 19 | 54152894 | 54152894 | Human | | name |
| 402496994 | CV2942829 | single nucleotide variant | NM_014516.4(CNOT3):c.1611T>C (p.Pro537=) | not provided [RCV003661169] | likely benign | 19 | 54152231 | 54152231 | Human | | name |
| 404993615 | CV2995940 | single nucleotide variant | NM_016284.5(CNOT1):c.2955A>G (p.Pro985=) | not provided [RCV003692526] | likely benign | 16 | 58553797 | 58553797 | Human | | name |
| 402522823 | CV3011384 | single nucleotide variant | NM_014516.4(CNOT3):c.153G>T (p.Glu51Asp) | not provided [RCV003716562] | uncertain significance | 19 | 54143501 | 54143501 | Human | | name |
| 405124139 | CV3021118 | single nucleotide variant | NM_014516.4(CNOT3):c.1914C>T (p.Leu638=) | Inborn genetic diseases [RCV005323532]|not provided [RCV003701070] | likely benign | 19 | 54152876 | 54152876 | Human | 1 | name |
| 405125869 | CV3021253 | single nucleotide variant | NM_014516.4(CNOT3):c.1434G>A (p.Thr478=) | not provided [RCV003701159] | likely benign | 19 | 54149587 | 54149587 | Human | | name |
| 405147627 | CV3024051 | single nucleotide variant | NM_016284.5(CNOT1):c.1761A>G (p.Ala587=) | not provided [RCV003702998] | likely benign | 16 | 58575073 | 58575073 | Human | | name |
| 405144091 | CV3027267 | single nucleotide variant | NM_014516.4(CNOT3):c.1860C>T (p.Ala620=) | not provided [RCV003702769] | likely benign | 19 | 54152582 | 54152582 | Human | | name |
| 405150506 | CV3031311 | single nucleotide variant | NM_014516.4(CNOT3):c.2001G>A (p.Ser667=) | not provided [RCV003703260] | likely benign | 19 | 54152963 | 54152963 | Human | | name |
| 405197751 | CV3032579 | single nucleotide variant | NM_014516.4(CNOT3):c.1422G>A (p.Ala474=) | not provided [RCV003707064] | likely benign | 19 | 54149575 | 54149575 | Human | | name |
| 405197382 | CV3032599 | single nucleotide variant | NM_016284.5(CNOT1):c.2655A>G (p.Arg885=) | not provided [RCV003707076] | likely benign | 16 | 58555487 | 58555487 | Human | | name |
| 405221592 | CV3038592 | single nucleotide variant | NM_014516.4(CNOT3):c.2181T>C (p.Phe727=) | not provided [RCV003710054] | likely benign | 19 | 54155326 | 54155326 | Human | | name |
| 405185147 | CV3040351 | single nucleotide variant | NM_014516.4(CNOT3):c.1464G>C (p.Gly488=) | not provided [RCV003705945] | likely benign | 19 | 54149617 | 54149617 | Human | | name |
| 405185648 | CV3040416 | single nucleotide variant | NM_016284.5(CNOT1):c.2895G>A (p.Leu965=) | not provided [RCV003705989] | likely benign | 16 | 58553857 | 58553857 | Human | | name |
| 405212306 | CV3063196 | single nucleotide variant | NM_016284.5(CNOT1):c.1578T>C (p.His526=) | not provided [RCV003732181] | likely benign | 16 | 58578705 | 58578705 | Human | | name |
| 405214406 | CV3078466 | single nucleotide variant | NM_016284.5(CNOT1):c.1869G>A (p.Arg623=) | not provided [RCV003732444] | likely benign | 16 | 58574719 | 58574719 | Human | | name |
| 405234345 | CV3155499 | single nucleotide variant | NM_016284.5(CNOT1):c.1977A>G (p.Ala659=) | not provided [RCV003853477] | likely benign | 16 | 58574611 | 58574611 | Human | | name |
| 405674083 | CV3304581 | single nucleotide variant | NM_015442.3(CNOT10):c.29G>A (p.Gly10Glu) | not specified [RCV004441966] | uncertain significance | 3 | 32703874 | 32703874 | Human | | name |
| 405674120 | CV3304590 | single nucleotide variant | NM_014515.7(CNOT2):c.158G>A (p.Arg53Gln) | Inborn genetic diseases [RCV004441975] | uncertain significance | 12 | 70311004 | 70311004 | Human | 1 | name |
| 405674124 | CV3304591 | single nucleotide variant | NM_014515.7(CNOT2):c.253C>G (p.Pro85Ala) | Inborn genetic diseases [RCV004441976] | uncertain significance | 12 | 70329437 | 70329437 | Human | 1 | name |
| 405674238 | CV3304616 | single nucleotide variant | NM_001370472.1(CNOT6):c.5C>T (p.Pro2Leu) | not specified [RCV004442001] | uncertain significance | 5 | 180529281 | 180529281 | Human | | name |
| 405867788 | CV3396608 | single nucleotide variant | NM_014516.4(CNOT3):c.1116C>G (p.Ala372=) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004560479] | uncertain significance | 19 | 54148369 | 54148369 | Human | 1 | name |
| 407425112 | CV3409358 | single nucleotide variant | NM_014516.4(CNOT3):c.2127C>T (p.His709=) | not provided [RCV004585289] | likely benign | 19 | 54153804 | 54153804 | Human | | name |
| 407425179 | CV3409392 | single nucleotide variant | NM_014516.4(CNOT3):c.1788G>A (p.Ser596=) | not provided [RCV004585323] | likely benign | 19 | 54152510 | 54152510 | Human | | name |
| 407427276 | CV3410573 | single nucleotide variant | NM_016284.5(CNOT1):c.259T>C (p.Phe87Leu) | not specified [RCV004586220] | uncertain significance | 16 | 58587830 | 58587830 | Human | | name |
| 407470642 | CV3425723 | single nucleotide variant | NM_001190850.2(CNOT4):c.7C>T (p.Arg3Cys) | not specified [RCV004615499] | uncertain significance | 7 | 135438325 | 135438325 | Human | | name |
| 407573912 | CV3498261 | single nucleotide variant | NM_014516.4(CNOT3):c.1122T>C (p.Ala374=) | not specified [RCV004702735] | likely benign | 19 | 54148375 | 54148375 | Human | | name |
| 408369599 | CV3502818 | single nucleotide variant | NM_014516.4(CNOT3):c.215A>G (p.Lys72Arg) | not provided [RCV004723939] | uncertain significance | 19 | 54143706 | 54143706 | Human | | name |
| 408381945 | CV3526652 | single nucleotide variant | NM_014516.4(CNOT3):c.206A>C (p.Asn69Thr) | not provided [RCV004771965] | uncertain significance | 19 | 54143697 | 54143697 | Human | | name |
| 596931682 | CV3531939 | single nucleotide variant | NM_005444.3(CNOT9):c.171G>T (p.Trp57Cys) | not provided [RCV004781501] | uncertain significance | 2 | 218580707 | 218580707 | Human | | name |
| 596946877 | CV3546934 | deletion | NM_014516.4(CNOT3):c.586del (p.Leu196fs) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810740] | pathogenic | 19 | 54145699 | 54145699 | Human | 1 | name |
| 596946895 | CV3546952 | single nucleotide variant | NM_014516.4(CNOT3):c.286C>T (p.Arg96Ter) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810758] | pathogenic|likely pathogenic | 19 | 54144033 | 54144033 | Human | 1 | name |
| 596947753 | CV3547336 | single nucleotide variant | NM_016284.5(CNOT1):c.2586A>G (p.Pro862=) | not provided [RCV004811640] | benign|likely benign | 16 | 58555802 | 58555802 | Human | | name |
| 12835402 | CV363405 | single nucleotide variant | NM_005444.3(CNOT9):c.259T>C (p.Ser87Pro) | Gastric adenocarcinoma [RCV000422236]|Hepatocellular carcinoma [RCV000431838]|Malignant melanoma of skin [RCV000431636]|Prostate adenocarcinoma [RCV000438382]|Transitional cell carcinoma of the bladder [RCV000421602] | likely pathogenic | 2 | 218583025 | 218583025 | Human | 4 | name |
| 12838083 | CV363406 | single nucleotide variant | NM_005444.3(CNOT9):c.260C>G (p.Ser87Cys) | Gastric adenocarcinoma [RCV000434591]|Hepatocellular carcinoma [RCV000444398]|Malignant melanoma of skin [RCV000443624]|Prostate adenocarcinoma [RCV000427048]|Transitional cell carcinoma of the bladder [RCV000426322] | likely pathogenic | 2 | 218583026 | 218583026 | Human | 4 | name |
| 597647695 | CV3653943 | single nucleotide variant | NM_016284.5(CNOT1):c.283A>G (p.Ile95Val) | Inborn genetic diseases [RCV004974062] | uncertain significance | 16 | 58587806 | 58587806 | Human | 1 | name |
| 597798982 | CV3653960 | single nucleotide variant | NM_015442.3(CNOT10):c.71C>G (p.Thr24Ser) | not specified [RCV004904974] | uncertain significance | 3 | 32703916 | 32703916 | Human | | name |
| 597798985 | CV3653962 | single nucleotide variant | NM_015442.3(CNOT10):c.549C>T (p.Asn183=) | not specified [RCV004904976] | likely benign | 3 | 32713345 | 32713345 | Human | | name |
| 597719366 | CV3733503 | single nucleotide variant | NM_014515.7(CNOT2):c.293G>A (p.Arg98His) | not provided [RCV005052693] | uncertain significance | 12 | 70329477 | 70329477 | Human | | name |
| 597918787 | CV3764885 | single nucleotide variant | NM_014516.4(CNOT3):c.2013C>G (p.Leu671=) | not provided [RCV005114900] | likely benign | 19 | 54152975 | 54152975 | Human | | name |
| 597916387 | CV3779358 | single nucleotide variant | NM_014516.4(CNOT3):c.119A>G (p.Gln40Arg) | not provided [RCV005129499] | likely pathogenic | 19 | 54143467 | 54143467 | Human | | name |
| 597905814 | CV3803893 | single nucleotide variant | NM_016284.5(CNOT1):c.1887C>T (p.Gly629=) | not provided [RCV005153438] | likely benign | 16 | 58574701 | 58574701 | Human | | name |
| 597926355 | CV3819695 | single nucleotide variant | NM_016284.5(CNOT1):c.182G>A (p.Gly61Asp) | not provided [RCV005156395] | uncertain significance | 16 | 58588827 | 58588827 | Human | | name |
| 597861503 | CV3822519 | single nucleotide variant | NM_014516.4(CNOT3):c.1200C>T (p.Gly400=) | not provided [RCV005175049] | likely benign | 19 | 54148453 | 54148453 | Human | | name |
| 597877351 | CV3825776 | single nucleotide variant | NM_014516.4(CNOT3):c.1872C>T (p.His624=) | not provided [RCV005177650] | likely benign | 19 | 54152594 | 54152594 | Human | | name |
| 597878409 | CV3825928 | single nucleotide variant | NM_016284.5(CNOT1):c.1089T>C (p.His363=) | not provided [RCV005177802] | likely benign | 16 | 58581471 | 58581471 | Human | | name |
| 597908570 | CV3829932 | single nucleotide variant | NM_016284.5(CNOT1):c.1035T>G (p.Leu345=) | not provided [RCV005182501] | likely benign | 16 | 58582802 | 58582802 | Human | | name |
| 597966227 | CV3859076 | single nucleotide variant | NM_016284.5(CNOT1):c.1392G>A (p.Gly464=) | not provided [RCV005194471] | likely benign | 16 | 58578891 | 58578891 | Human | | name |
| 597887950 | CV3859414 | single nucleotide variant | NM_016284.5(CNOT1):c.2403C>T (p.Asn801=) | not provided [RCV005200070] | likely benign | 16 | 58556923 | 58556923 | Human | | name |
| 598230990 | CV3886400 | duplication | NM_016284.5(CNOT1):c.445dup (p.Ile149fs) | Vissers-Bodmer syndrome [RCV005255844] | pathogenic | 16 | 58586736 | 58586737 | Human | 1 | name |
| 598129190 | CV3888483 | single nucleotide variant | NM_014516.4(CNOT3):c.1974C>T (p.Asp658=) | not provided [RCV005244657] | likely benign | 19 | 54152936 | 54152936 | Human | | name |
| 598257801 | CV3941293 | single nucleotide variant | NM_015442.3(CNOT10):c.32C>G (p.Ala11Gly) | not specified [RCV005324491] | uncertain significance | 3 | 32703877 | 32703877 | Human | | name |
| 598257807 | CV3941295 | single nucleotide variant | NM_015442.3(CNOT10):c.41A>G (p.His14Arg) | not specified [RCV005324492] | uncertain significance | 3 | 32703886 | 32703886 | Human | | name |
| 616935958 | CV4015895 | single nucleotide variant | NM_014515.7(CNOT2):c.260G>A (p.Arg87Lys) | not provided [RCV005414759] | uncertain significance | 12 | 70329444 | 70329444 | Human | | name |
| 617151190 | CV4017783 | single nucleotide variant | NM_014516.4(CNOT3):c.113C>T (p.Ala38Val) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005417568] | uncertain significance | 19 | 54143461 | 54143461 | Human | 1 | name |
| 617151200 | CV4017784 | single nucleotide variant | NM_014516.4(CNOT3):c.157A>C (p.Lys53Gln) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005417570] | uncertain significance | 19 | 54143505 | 54143505 | Human | 1 | name |
| 21066817 | CV797925 | deletion | NM_014516.4(CNOT3):c.732del (p.Ser245fs) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005410918]|not provided [RCV000997012] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 19 | 54145931 | 54145931 | Human | 1 | name |
| 38463778 | CV961350 | single nucleotide variant | NM_014516.4(CNOT3):c.169C>T (p.Arg57Trp) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV002286829]|not provided [RCV001249291] | pathogenic|not provided | 19 | 54143660 | 54143660 | Human | 1 | name |
| 126912274 | CV1038181 | single nucleotide variant | NM_014515.7(CNOT2):c.710A>G (p.Asn237Ser) | Inborn genetic diseases [RCV002548512]|not provided [RCV001356344] | likely benign | 12 | 70335498 | 70335498 | Human | 1 | name |
| 150452594 | CV1207358 | single nucleotide variant | NM_016284.5(CNOT1):c.4524G>A (p.Gln1508=) | Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588042]|Vissers-Bodmer syndrome [RCV001588043] | benign | 16 | 58542479 | 58542479 | Human | 2 | name |
| 150435811 | CV1207359 | single nucleotide variant | NM_016284.5(CNOT1):c.4128G>A (p.Leu1376=) | Holoprosencephaly 12 with or without pancreatic agenesis [RCV001588044]|Vissers-Bodmer syndrome [RCV001588045]|not provided [RCV001694140] | benign | 16 | 58545370 | 58545370 | Human | 2 | name |
| 150452507 | CV1275273 | single nucleotide variant | NM_014516.4(CNOT3):c.563G>A (p.Arg188His) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV001706786] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 19 | 54145677 | 54145677 | Human | 1 | name |
| 150554308 | CV1295727 | single nucleotide variant | NM_014516.4(CNOT3):c.559C>G (p.Leu187Val) | not provided [RCV001770957] | uncertain significance | 19 | 54145673 | 54145673 | Human | | name |
| 150555031 | CV1310031 | single nucleotide variant | NM_014516.4(CNOT3):c.602G>A (p.Arg201His) | not provided [RCV003238037] | uncertain significance | 19 | 54145716 | 54145716 | Human | | name |
| 150555032 | CV1310032 | single nucleotide variant | NM_014516.4(CNOT3):c.575A>G (p.Asn192Ser) | not provided [RCV003238038] | likely pathogenic | 19 | 54145689 | 54145689 | Human | | name |
| 151785712 | CV1348822 | single nucleotide variant | NM_014516.4(CNOT3):c.937C>T (p.His313Tyr) | Inborn genetic diseases [RCV004041325]|not provided [RCV001897664] | likely benign|uncertain significance | 19 | 54148190 | 54148190 | Human | 1 | name |
| 153001007 | CV1684040 | single nucleotide variant | NM_016284.5(CNOT1):c.608T>C (p.Ile203Thr) | See cases [RCV002254890]|Vissers-Bodmer syndrome [RCV004555634] | likely pathogenic|uncertain significance | 16 | 58586574 | 58586574 | Human | 1 | name |
| 153304927 | CV1687374 | deletion | NM_014516.4(CNOT3):c.1373del (p.Pro458fs) | not provided [RCV002263192] | pathogenic | 19 | 54148705 | 54148705 | Human | | name |
| 153349439 | CV1693324 | single nucleotide variant | NM_014516.4(CNOT3):c.794C>T (p.Thr265Ile) | not provided [RCV002275843]|not specified [RCV005406423] | uncertain significance | 19 | 54146000 | 54146000 | Human | | name |
| 155268954 | CV1704786 | single nucleotide variant | NM_005444.3(CNOT9):c.874C>T (p.Arg292Trp) | CNOT9-associated neurodevelopmental disorder [RCV002286439]|See cases [RCV005255508]|not provided [RCV003155474] | pathogenic | 2 | 218594250 | 218594250 | Human | 1 | name |
| 155268957 | CV1705781 | duplication | NM_014516.4(CNOT3):c.1242dup (p.Ser415fs) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV002286442] | pathogenic | 19 | 54148494 | 54148495 | Human | 1 | name |
| 155268975 | CV1705805 | single nucleotide variant | NM_005444.3(CNOT9):c.680G>A (p.Arg227His) | CNOT9-associated neurodevelopmental disorder [RCV002286460]|not provided [RCV003321920] | likely pathogenic | 2 | 218592656 | 218592656 | Human | 1 | name |
| 155643289 | CV1706646 | duplication | NM_014516.4(CNOT3):c.1941dup (p.Tyr648fs) | See cases [RCV004584522]|not provided [RCV004572123] | pathogenic | 19 | 54152897 | 54152898 | Human | | name |
| 155730388 | CV1780794 | single nucleotide variant | NM_016284.5(CNOT1):c.326C>A (p.Pro109His) | not specified [RCV002308579] | uncertain significance | 16 | 58587397 | 58587397 | Human | | name |
| 155800299 | CV1862881 | single nucleotide variant | NM_014516.4(CNOT3):c.943C>G (p.Gln315Glu) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV002472289] | uncertain significance | 19 | 54148196 | 54148196 | Human | 1 | name |
| 156378914 | CV1876769 | single nucleotide variant | NM_016284.5(CNOT1):c.3442C>T (p.Leu1148=) | not provided [RCV003066991] | benign | 16 | 58549799 | 58549799 | Human | | name |
| 156251088 | CV1887133 | single nucleotide variant | NM_016284.5(CNOT1):c.3363G>A (p.Thr1121=) | not provided [RCV003086103] | likely benign | 16 | 58549878 | 58549878 | Human | | name |
| 156292354 | CV1887157 | single nucleotide variant | NM_016284.5(CNOT1):c.3786T>C (p.Ile1262=) | not provided [RCV003087538] | likely benign | 16 | 58546714 | 58546714 | Human | | name |
| 156406640 | CV1891238 | single nucleotide variant | NM_016284.5(CNOT1):c.5106G>A (p.Gly1702=) | not provided [RCV003070439] | likely benign | 16 | 58538801 | 58538801 | Human | | name |
| 156175312 | CV1891613 | single nucleotide variant | NM_016284.5(CNOT1):c.866A>G (p.Gln289Arg) | Inborn genetic diseases [RCV003083373]|not provided [RCV003067466] | uncertain significance | 16 | 58583123 | 58583123 | Human | 1 | name |
| 156362231 | CV1905070 | single nucleotide variant | NM_016284.5(CNOT1):c.6891G>C (p.Thr2297=) | not provided [RCV002602581] | likely benign | 16 | 58523396 | 58523396 | Human | | name |
| 156408385 | CV1911592 | single nucleotide variant | NM_016284.5(CNOT1):c.5610C>T (p.Arg1870=) | not provided [RCV002607215] | likely benign | 16 | 58537025 | 58537025 | Human | | name |
| 156406903 | CV1917911 | single nucleotide variant | NM_016284.5(CNOT1):c.5887C>T (p.Leu1963=) | not provided [RCV002606737] | likely benign | 16 | 58534155 | 58534155 | Human | | name |
| 156405326 | CV1919288 | single nucleotide variant | NM_016284.5(CNOT1):c.3666A>G (p.Leu1222=) | not provided [RCV002585622] | likely benign | 16 | 58547270 | 58547270 | Human | | name |
| 156092017 | CV1919783 | single nucleotide variant | NM_016284.5(CNOT1):c.466C>A (p.Leu156Ile) | not provided [RCV002591946] | uncertain significance | 16 | 58586716 | 58586716 | Human | | name |
| 156368947 | CV1922676 | single nucleotide variant | NM_016284.5(CNOT1):c.4662A>G (p.Pro1554=) | not provided [RCV002633221] | likely benign | 16 | 58542249 | 58542249 | Human | | name |
| 155963043 | CV1931717 | single nucleotide variant | NM_016284.5(CNOT1):c.7068C>T (p.Val2356=) | not provided [RCV002616826] | benign | 16 | 58521021 | 58521021 | Human | | name |
| 156437237 | CV1937070 | single nucleotide variant | NM_016284.5(CNOT1):c.4296G>A (p.Ser1432=) | not provided [RCV003106768] | likely benign | 16 | 58543745 | 58543745 | Human | | name |
| 156436783 | CV1940384 | single nucleotide variant | NM_016284.5(CNOT1):c.6405C>T (p.Ala2135=) | not provided [RCV003106307] | likely benign | 16 | 58528523 | 58528523 | Human | | name |
| 156400278 | CV1940463 | single nucleotide variant | NM_016284.5(CNOT1):c.631C>T (p.Arg211Cys) | Inborn genetic diseases [RCV002656431]|not provided [RCV003108159] | uncertain significance | 16 | 58586551 | 58586551 | Human | 1 | name |
| 156439198 | CV1944062 | single nucleotide variant | NM_016284.5(CNOT1):c.3873A>G (p.Ala1291=) | not provided [RCV003109154] | likely benign | 16 | 58546454 | 58546454 | Human | | name |
| 156437755 | CV1947770 | single nucleotide variant | NM_016284.5(CNOT1):c.5040T>G (p.Leu1680=) | not provided [RCV003107297] | uncertain significance | 16 | 58538867 | 58538867 | Human | | name |
| 156446560 | CV1947905 | single nucleotide variant | NM_016284.5(CNOT1):c.4656G>A (p.Arg1552=) | not provided [RCV003118069] | likely benign | 16 | 58542255 | 58542255 | Human | | name |
| 156118333 | CV1952519 | single nucleotide variant | NM_016284.5(CNOT1):c.6111C>T (p.Ala2037=) | not provided [RCV002571762] | likely benign | 16 | 58532024 | 58532024 | Human | | name |
| 156410574 | CV1958437 | single nucleotide variant | NM_016284.5(CNOT1):c.6165G>C (p.Thr2055=) | not provided [RCV002587197] | likely benign | 16 | 58531970 | 58531970 | Human | | name |
| 155978318 | CV1972279 | single nucleotide variant | NM_016284.5(CNOT1):c.895C>G (p.Arg299Gly) | not provided [RCV002617486] | uncertain significance | 16 | 58583094 | 58583094 | Human | | name |
| 156097595 | CV1981052 | single nucleotide variant | NM_016284.5(CNOT1):c.6006T>C (p.Asn2002=) | not provided [RCV002622092] | likely benign | 16 | 58532285 | 58532285 | Human | | name |
| 156124719 | CV1992877 | single nucleotide variant | NM_016284.5(CNOT1):c.727T>A (p.Ser243Thr) | not provided [RCV002623081] | uncertain significance | 16 | 58585417 | 58585417 | Human | | name |
| 156153134 | CV2023145 | single nucleotide variant | NM_016284.5(CNOT1):c.7089G>A (p.Gln2363=) | not provided [RCV002741287] | likely benign | 16 | 58521000 | 58521000 | Human | | name |
| 155994156 | CV2023470 | single nucleotide variant | NM_014516.4(CNOT3):c.929G>A (p.Ser310Asn) | Inborn genetic diseases [RCV004067861]|not provided [RCV002755883] | likely benign|uncertain significance | 19 | 54148182 | 54148182 | Human | 1 | name |
| 156270265 | CV2026873 | single nucleotide variant | NM_016284.5(CNOT1):c.706A>G (p.Met236Val) | not provided [RCV002746613] | uncertain significance | 16 | 58585438 | 58585438 | Human | | name |
| 156050499 | CV2027289 | single nucleotide variant | NM_016284.5(CNOT1):c.4641A>G (p.Thr1547=) | not provided [RCV002736494] | likely benign | 16 | 58542270 | 58542270 | Human | | name |
| 155912537 | CV2029562 | single nucleotide variant | NM_014516.4(CNOT3):c.730C>G (p.Pro244Ala) | Inborn genetic diseases [RCV002750245]|not provided [RCV002745953] | uncertain significance | 19 | 54145936 | 54145936 | Human | 1 | name |
| 156093931 | CV2030779 | single nucleotide variant | NM_016284.5(CNOT1):c.5574A>G (p.Glu1858=) | not provided [RCV002761052] | likely benign | 16 | 58537061 | 58537061 | Human | | name |
| 156046623 | CV2030902 | single nucleotide variant | NM_016284.5(CNOT1):c.4893C>T (p.Ala1631=) | not provided [RCV002736371] | likely benign | 16 | 58539867 | 58539867 | Human | | name |
| 155953358 | CV2033242 | single nucleotide variant | NM_016284.5(CNOT1):c.3456C>T (p.Phe1152=) | not provided [RCV002730798] | likely benign | 16 | 58549785 | 58549785 | Human | | name |
| 155957969 | CV2033542 | single nucleotide variant | NM_016284.5(CNOT1):c.7047C>T (p.Ile2349=) | not provided [RCV002731032] | likely benign | 16 | 58521188 | 58521188 | Human | | name |
| 156260711 | CV2033955 | single nucleotide variant | NM_016284.5(CNOT1):c.4344G>A (p.Leu1448=) | not provided [RCV002746298] | likely benign | 16 | 58543697 | 58543697 | Human | | name |
| 155926603 | CV2041407 | single nucleotide variant | NM_016284.5(CNOT1):c.5241G>A (p.Ala1747=) | not provided [RCV002750959] | likely benign | 16 | 58538161 | 58538161 | Human | | name |
| 155939171 | CV2041592 | single nucleotide variant | NM_016284.5(CNOT1):c.397C>G (p.Leu133Val) | not provided [RCV002775076] | uncertain significance | 16 | 58587237 | 58587237 | Human | | name |
| 156195234 | CV2066563 | single nucleotide variant | NM_016284.5(CNOT1):c.5838C>T (p.Leu1946=) | not provided [RCV002828748] | likely benign | 16 | 58534204 | 58534204 | Human | | name |
| 156159818 | CV2074044 | single nucleotide variant | NM_016284.5(CNOT1):c.3072C>G (p.Ala1024=) | not provided [RCV002851169] | likely benign | 16 | 58551718 | 58551718 | Human | | name |
| 156308669 | CV2076123 | single nucleotide variant | NM_014516.4(CNOT3):c.311G>A (p.Ser104Asn) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003314045]|not provided [RCV002857535] | conflicting interpretations of pathogenicity|uncertain significance | 19 | 54144058 | 54144058 | Human | 1 | name |
| 156310258 | CV2082276 | single nucleotide variant | NM_016284.5(CNOT1):c.622A>C (p.Lys208Gln) | not provided [RCV002898672] | uncertain significance | 16 | 58586560 | 58586560 | Human | | name |
| 156079243 | CV2098544 | single nucleotide variant | NM_016284.5(CNOT1):c.6852C>T (p.Phe2284=) | not provided [RCV002912643] | likely benign | 16 | 58523435 | 58523435 | Human | | name |
| 156203741 | CV2110174 | single nucleotide variant | NM_016284.5(CNOT1):c.5673C>T (p.Thr1891=) | not provided [RCV002957476] | likely benign | 16 | 58534369 | 58534369 | Human | | name |
| 156134518 | CV2113229 | single nucleotide variant | NM_016284.5(CNOT1):c.3966T>C (p.Asp1322=) | not provided [RCV002928328] | likely benign | 16 | 58546361 | 58546361 | Human | | name |
| 156214576 | CV2114715 | single nucleotide variant | NM_016284.5(CNOT1):c.6228G>A (p.Ala2076=) | not provided [RCV002932206] | likely benign | 16 | 58530297 | 58530297 | Human | | name |
| 156235473 | CV2118396 | single nucleotide variant | NM_016284.5(CNOT1):c.6525G>A (p.Gln2175=) | not provided [RCV002958672] | likely benign | 16 | 58526067 | 58526067 | Human | | name |
| 156227345 | CV2121872 | single nucleotide variant | NM_016284.5(CNOT1):c.7008G>A (p.Lys2336=) | not provided [RCV002958375] | likely benign | 16 | 58521227 | 58521227 | Human | | name |
| 155994473 | CV2122487 | single nucleotide variant | NM_016284.5(CNOT1):c.4686T>C (p.Gly1562=) | not provided [RCV002974884] | likely benign | 16 | 58541615 | 58541615 | Human | | name |
| 155965569 | CV2134800 | single nucleotide variant | NM_016284.5(CNOT1):c.3210T>C (p.Ile1070=) | not provided [RCV002972596] | likely benign | 16 | 58551264 | 58551264 | Human | | name |
| 156029447 | CV2135386 | single nucleotide variant | NM_016284.5(CNOT1):c.788G>C (p.Gly263Ala) | not provided [RCV002999074] | uncertain significance | 16 | 58585356 | 58585356 | Human | | name |
| 156245664 | CV2145382 | single nucleotide variant | NM_014516.4(CNOT3):c.836C>T (p.Thr279Met) | not provided [RCV003008260] | uncertain significance | 19 | 54146042 | 54146042 | Human | | name |
| 156302195 | CV2146315 | single nucleotide variant | NM_016284.5(CNOT1):c.5058A>G (p.Glu1686=) | not provided [RCV003028147] | likely benign | 16 | 58538849 | 58538849 | Human | | name |
| 156034768 | CV2150092 | single nucleotide variant | NM_016284.5(CNOT1):c.821G>A (p.Arg274His) | not provided [RCV003018828] | uncertain significance | 16 | 58583168 | 58583168 | Human | | name |
| 155971150 | CV2158141 | single nucleotide variant | NM_016284.5(CNOT1):c.5847C>T (p.His1949=) | not provided [RCV003033441] | likely benign | 16 | 58534195 | 58534195 | Human | | name |
| 155948630 | CV2162288 | single nucleotide variant | NM_016284.5(CNOT1):c.5556A>G (p.Ala1852=) | not provided [RCV003014720] | likely benign | 16 | 58537079 | 58537079 | Human | | name |
| 156359188 | CV2162323 | single nucleotide variant | NM_016284.5(CNOT1):c.4644T>C (p.Tyr1548=) | not provided [RCV003031442] | likely benign | 16 | 58542267 | 58542267 | Human | | name |
| 156006662 | CV2163001 | single nucleotide variant | NM_016284.5(CNOT1):c.6705C>T (p.Ser2235=) | not provided [RCV003017528] | likely benign | 16 | 58525258 | 58525258 | Human | | name |
| 156050596 | CV2165197 | single nucleotide variant | NM_016284.5(CNOT1):c.4059A>G (p.Pro1353=) | not provided [RCV003019381] | likely benign | 16 | 58545439 | 58545439 | Human | | name |
| 156190557 | CV2165960 | single nucleotide variant | NM_016284.5(CNOT1):c.743A>G (p.Lys248Arg) | Inborn genetic diseases [RCV003041637]|not provided [RCV003041636] | uncertain significance | 16 | 58585401 | 58585401 | Human | 1 | name |
| 156049364 | CV2169026 | single nucleotide variant | NM_016284.5(CNOT1):c.6549T>C (p.Tyr2183=) | not provided [RCV003019344] | likely benign | 16 | 58526043 | 58526043 | Human | | name |
| 156333922 | CV2172083 | single nucleotide variant | NM_016284.5(CNOT1):c.6675G>A (p.Gln2225=) | not provided [RCV003029920] | likely benign | 16 | 58525288 | 58525288 | Human | | name |
| 156196215 | CV2175536 | single nucleotide variant | NM_016284.5(CNOT1):c.5211T>G (p.Val1737=) | not provided [RCV003058002] | likely benign | 16 | 58538191 | 58538191 | Human | | name |
| 156327649 | CV2184515 | single nucleotide variant | NM_016284.5(CNOT1):c.737T>C (p.Val246Ala) | not provided [RCV003047024] | uncertain significance | 16 | 58585407 | 58585407 | Human | | name |
| 156129177 | CV2185873 | single nucleotide variant | NM_014516.4(CNOT3):c.731C>T (p.Pro244Leu) | not provided [RCV003055773] | uncertain significance | 19 | 54145937 | 54145937 | Human | | name |
| 156398814 | CV2194802 | single nucleotide variant | NM_016284.5(CNOT1):c.758G>A (p.Ser253Asn) | Inborn genetic diseases [RCV002655738]|not provided [RCV005099477] | likely benign|uncertain significance | 16 | 58585386 | 58585386 | Human | 1 | name |
| 156370176 | CV2204129 | single nucleotide variant | NM_014515.7(CNOT2):c.320C>T (p.Pro107Leu) | Inborn genetic diseases [RCV002652699] | uncertain significance | 12 | 70329504 | 70329504 | Human | 1 | name |
| 156254095 | CV2209616 | single nucleotide variant | NM_014516.4(CNOT3):c.907A>C (p.Asn303His) | Inborn genetic diseases [RCV002702624] | uncertain significance | 19 | 54148160 | 54148160 | Human | 1 | name |
| 156233626 | CV2227780 | single nucleotide variant | NM_014515.7(CNOT2):c.721G>A (p.Gly241Arg) | Inborn genetic diseases [RCV002712923] | uncertain significance | 12 | 70335509 | 70335509 | Human | 1 | name |
| 156028569 | CV2278541 | single nucleotide variant | NM_144571.3(CNOT6L):c.140G>A (p.Ser47Asn) | not specified [RCV004132975] | uncertain significance | 4 | 77774704 | 77774704 | Human | | name |
| 155956724 | CV2304066 | single nucleotide variant | NM_014516.4(CNOT3):c.436G>T (p.Val146Leu) | Inborn genetic diseases [RCV002905629] | uncertain significance | 19 | 54144285 | 54144285 | Human | 1 | name |
| 156050304 | CV2304568 | single nucleotide variant | NM_014515.7(CNOT2):c.797C>G (p.Ala266Gly) | Inborn genetic diseases [RCV002911162] | uncertain significance | 12 | 70337410 | 70337410 | Human | 1 | name |
| 156065410 | CV2317761 | single nucleotide variant | NM_013354.7(CNOT7):c.523C>T (p.Pro175Ser) | not specified [RCV004175012] | uncertain significance | 8 | 17234811 | 17234811 | Human | | name |
| 156335119 | CV2333482 | single nucleotide variant | NM_144571.3(CNOT6L):c.179C>T (p.Ala60Val) | not specified [RCV004190179] | uncertain significance | 4 | 77774665 | 77774665 | Human | | name |
| 156106219 | CV2387064 | single nucleotide variant | NM_144571.3(CNOT6L):c.160T>G (p.Ser54Ala) | not specified [RCV004226808] | uncertain significance | 4 | 77774684 | 77774684 | Human | | name |
| 243055607 | CV2407518 | single nucleotide variant | NM_014515.7(CNOT2):c.406C>T (p.Pro136Ser) | Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [RCV003145068] | uncertain significance | 12 | 70330306 | 70330306 | Human | 1 | name |
| 329395260 | CV2458248 | single nucleotide variant | NM_014516.4(CNOT3):c.557T>C (p.Ile186Thr) | Inborn genetic diseases [RCV003194276] | uncertain significance | 19 | 54145671 | 54145671 | Human | 1 | name |
| 329399639 | CV2470179 | single nucleotide variant | NM_016284.5(CNOT1):c.529G>A (p.Ala177Thr) | Inborn genetic diseases [RCV003221007] | uncertain significance | 16 | 58586653 | 58586653 | Human | 1 | name |
| 329952135 | CV2671593 | single nucleotide variant | NM_014515.7(CNOT2):c.758C>T (p.Ala253Val) | not provided [RCV003236989] | uncertain significance | 12 | 70335546 | 70335546 | Human | | name |
| 401720843 | CV2673510 | single nucleotide variant | NM_016284.5(CNOT1):c.974A>G (p.Lys325Arg) | Inborn genetic diseases [RCV003244214] | uncertain significance | 16 | 58582863 | 58582863 | Human | 1 | name |
| 401737636 | CV2679931 | single nucleotide variant | NM_014515.7(CNOT2):c.548G>A (p.Arg183Gln) | Inborn genetic diseases [RCV003239898] | uncertain significance | 12 | 70330448 | 70330448 | Human | 1 | name |
| 401798756 | CV2742555 | single nucleotide variant | NM_016284.5(CNOT1):c.875G>T (p.Arg292Met) | not provided [RCV003324999] | uncertain significance | 16 | 58583114 | 58583114 | Human | | name |
| 401873256 | CV2749734 | single nucleotide variant | NM_014516.4(CNOT3):c.672T>G (p.Phe224Leu) | not provided [RCV003332863] | uncertain significance | 19 | 54145786 | 54145786 | Human | | name |
| 401875733 | CV2750085 | single nucleotide variant | NM_014516.4(CNOT3):c.913T>A (p.Ser305Thr) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003333502] | uncertain significance | 19 | 54148166 | 54148166 | Human | 1 | name |
| 401882270 | CV2781554 | single nucleotide variant | NM_016284.5(CNOT1):c.958A>G (p.Ile320Val) | Inborn genetic diseases [RCV003365205] | uncertain significance | 16 | 58582879 | 58582879 | Human | 1 | name |
| 401897366 | CV2786945 | single nucleotide variant | NM_014516.4(CNOT3):c.544A>G (p.Met182Val) | Inborn genetic diseases [RCV003374986] | uncertain significance | 19 | 54145658 | 54145658 | Human | 1 | name |
| 401916211 | CV2795380 | single nucleotide variant | NM_016284.5(CNOT1):c.820C>T (p.Arg274Cys) | Neurodevelopmental disorder [RCV003389215] | uncertain significance | 16 | 58583169 | 58583169 | Human | 1 | name |
| 401911700 | CV2807986 | single nucleotide variant | NM_016284.5(CNOT1):c.6429C>T (p.Pro2143=) | not provided [RCV003426722] | likely benign | 16 | 58528499 | 58528499 | Human | | name |
| 401903311 | CV2807988 | single nucleotide variant | NM_016284.5(CNOT1):c.5586C>G (p.Leu1862=) | not provided [RCV003419347] | likely benign | 16 | 58537049 | 58537049 | Human | | name |
| 401911704 | CV2807992 | single nucleotide variant | NM_016284.5(CNOT1):c.3474T>C (p.Asn1158=) | not provided [RCV003426725] | benign|likely benign | 16 | 58549767 | 58549767 | Human | | name |
| 401916781 | CV2829486 | single nucleotide variant | NM_014515.7(CNOT2):c.335C>T (p.Pro112Leu) | not provided [RCV003443530] | uncertain significance | 12 | 70329519 | 70329519 | Human | | name |
| 401913370 | CV2830349 | single nucleotide variant | NM_014515.7(CNOT2):c.917G>T (p.Gly306Val) | not provided [RCV003441564] | uncertain significance | 12 | 70338459 | 70338459 | Human | | name |
| 401905280 | CV2831422 | single nucleotide variant | NM_014516.4(CNOT3):c.658G>A (p.Glu220Lys) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003444414] | uncertain significance | 19 | 54145772 | 54145772 | Human | 1 | name |
| 401943711 | CV2840159 | single nucleotide variant | NM_016284.5(CNOT1):c.3984A>G (p.Glu1328=) | not provided [RCV003456934] | likely benign | 16 | 58546343 | 58546343 | Human | | name |
| 405170426 | CV2854356 | single nucleotide variant | NM_016284.5(CNOT1):c.6381G>A (p.Gln2127=) | not provided [RCV003542121] | benign | 16 | 58528547 | 58528547 | Human | | name |
| 402493608 | CV2874219 | single nucleotide variant | NM_016284.5(CNOT1):c.394G>A (p.Ala132Thr) | not provided [RCV003545166] | uncertain significance | 16 | 58587240 | 58587240 | Human | | name |
| 405121517 | CV2888141 | single nucleotide variant | NM_016284.5(CNOT1):c.6576C>T (p.Phe2192=) | not provided [RCV003559143] | likely benign | 16 | 58526016 | 58526016 | Human | | name |
| 405158495 | CV2898187 | single nucleotide variant | NM_016284.5(CNOT1):c.6546C>T (p.Ser2182=) | not provided [RCV003562224] | likely benign | 16 | 58526046 | 58526046 | Human | | name |
| 402465686 | CV2913815 | single nucleotide variant | NM_016284.5(CNOT1):c.3516C>T (p.Asn1172=) | not provided [RCV003569287] | likely benign | 16 | 58549725 | 58549725 | Human | | name |
| 405194433 | CV2925725 | single nucleotide variant | NM_016284.5(CNOT1):c.947C>T (p.Pro316Leu) | not provided [RCV003565218] | uncertain significance | 16 | 58582890 | 58582890 | Human | | name |
| 402504086 | CV2933497 | single nucleotide variant | NM_016284.5(CNOT1):c.3708G>T (p.Val1236=) | not provided [RCV003574291] | likely benign | 16 | 58547228 | 58547228 | Human | | name |
| 405127679 | CV2939599 | single nucleotide variant | NM_016284.5(CNOT1):c.4080C>T (p.His1360=) | not provided [RCV003672048] | likely benign | 16 | 58545418 | 58545418 | Human | | name |
| 402522690 | CV2940289 | single nucleotide variant | NM_016284.5(CNOT1):c.4107C>T (p.Gly1369=) | not provided [RCV003663427] | likely benign | 16 | 58545391 | 58545391 | Human | | name |
| 405088740 | CV2943319 | single nucleotide variant | NM_016284.5(CNOT1):c.695G>A (p.Arg232Gln) | not provided [RCV003665058] | uncertain significance | 16 | 58585449 | 58585449 | Human | | name |
| 405172322 | CV2961318 | single nucleotide variant | NM_016284.5(CNOT1):c.3372A>G (p.Glu1124=) | not provided [RCV003675440] | likely benign | 16 | 58549869 | 58549869 | Human | | name |
| 405241774 | CV2970864 | single nucleotide variant | NM_016284.5(CNOT1):c.5898C>T (p.Val1966=) | not provided [RCV003684187] | likely benign | 16 | 58532393 | 58532393 | Human | | name |
| 405229014 | CV2977101 | single nucleotide variant | NM_014516.4(CNOT3):c.800G>A (p.Ser267Asn) | not provided [RCV003711195] | uncertain significance | 19 | 54146006 | 54146006 | Human | | name |
| 405127744 | CV3013888 | single nucleotide variant | NM_016284.5(CNOT1):c.3435T>C (p.Phe1145=) | not provided [RCV003701378] | likely benign | 16 | 58549806 | 58549806 | Human | | name |
| 405145263 | CV3023847 | single nucleotide variant | NM_014516.4(CNOT3):c.512G>A (p.Arg171Gln) | Inborn genetic diseases [RCV004980934]|not provided [RCV003702868] | uncertain significance | 19 | 54145626 | 54145626 | Human | 1 | name |
| 405180478 | CV3027805 | single nucleotide variant | NM_014516.4(CNOT3):c.983C>T (p.Pro328Leu) | Inborn genetic diseases [RCV004963765]|not provided [RCV003705479] | likely benign|uncertain significance | 19 | 54148236 | 54148236 | Human | 1 | name |
| 402486879 | CV3033933 | single nucleotide variant | NM_016284.5(CNOT1):c.6168A>G (p.Pro2056=) | not provided [RCV003713321] | likely benign | 16 | 58531967 | 58531967 | Human | | name |
| 405194689 | CV3062873 | single nucleotide variant | NM_016284.5(CNOT1):c.4533A>G (p.Ala1511=) | not provided [RCV003730063] | likely benign | 16 | 58542470 | 58542470 | Human | | name |
| 405151114 | CV3063639 | single nucleotide variant | NM_016284.5(CNOT1):c.5727C>T (p.Ile1909=) | not provided [RCV003726348] | likely benign | 16 | 58534315 | 58534315 | Human | | name |
| 405150006 | CV3063640 | single nucleotide variant | NM_016284.5(CNOT1):c.5607C>T (p.Gly1869=) | not provided [RCV003726349] | likely benign | 16 | 58537028 | 58537028 | Human | | name |
| 405030723 | CV3129997 | single nucleotide variant | NM_016284.5(CNOT1):c.4788C>T (p.Ala1596=) | not provided [RCV003830596] | likely benign | 16 | 58541513 | 58541513 | Human | | name |
| 405268362 | CV3187021 | single nucleotide variant | NM_014516.4(CNOT3):c.872C>A (p.Ser291Tyr) | not provided [RCV003887104] | uncertain significance | 19 | 54146635 | 54146635 | Human | | name |
| 405270209 | CV3187649 | single nucleotide variant | NM_016284.5(CNOT1):c.613G>A (p.Ala205Thr) | not provided [RCV003887733] | uncertain significance | 16 | 58586569 | 58586569 | Human | | name |
| 405281744 | CV3224321 | duplication | NM_014516.4(CNOT3):c.1373dup (p.Ser459fs) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003988703] | pathogenic | 19 | 54148704 | 54148705 | Human | 1 | name |
| 405692241 | CV3227788 | single nucleotide variant | NM_014516.4(CNOT3):c.461G>T (p.Arg154Leu) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003992123] | uncertain significance | 19 | 54144310 | 54144310 | Human | 1 | name |
| 405673946 | CV3304571 | single nucleotide variant | NM_016284.5(CNOT1):c.487G>A (p.Ala163Thr) | Inborn genetic diseases [RCV004441956] | uncertain significance | 16 | 58586695 | 58586695 | Human | 1 | name |
| 405673959 | CV3304574 | single nucleotide variant | NM_016284.5(CNOT1):c.610G>C (p.Asp204His) | Inborn genetic diseases [RCV004441959]|not provided [RCV005104616] | uncertain significance | 16 | 58586572 | 58586572 | Human | 1 | name |
| 405674106 | CV3304587 | single nucleotide variant | NM_017546.5(CNOT11):c.158G>C (p.Gly53Ala) | not specified [RCV004441972] | uncertain significance | 2 | 101253122 | 101253122 | Human | | name |
| 405674129 | CV3304592 | single nucleotide variant | NM_014515.7(CNOT2):c.683C>A (p.Ser228Ter) | Inborn genetic diseases [RCV004441977] | pathogenic | 12 | 70335471 | 70335471 | Human | 1 | name |
| 405674133 | CV3304593 | single nucleotide variant | NM_014515.7(CNOT2):c.750C>A (p.Asn250Lys) | Inborn genetic diseases [RCV004441978] | uncertain significance | 12 | 70335538 | 70335538 | Human | 1 | name |
| 405674137 | CV3304594 | single nucleotide variant | NM_014515.7(CNOT2):c.928T>G (p.Ser310Ala) | Inborn genetic diseases [RCV004441979] | uncertain significance | 12 | 70338470 | 70338470 | Human | 1 | name |
| 405674190 | CV3304605 | single nucleotide variant | NM_014516.4(CNOT3):c.718G>A (p.Ala240Thr) | Inborn genetic diseases [RCV004441990] | uncertain significance | 19 | 54145924 | 54145924 | Human | 1 | name |
| 405674264 | CV3304623 | single nucleotide variant | NM_013354.7(CNOT7):c.830A>G (p.Tyr277Cys) | not specified [RCV004442008] | uncertain significance | 8 | 17230748 | 17230748 | Human | | name |
| 405854398 | CV3393903 | single nucleotide variant | NM_014516.4(CNOT3):c.766C>T (p.Gln256Ter) | not provided [RCV004547129] | pathogenic | 19 | 54145972 | 54145972 | Human | | name |
| 405855244 | CV3394006 | single nucleotide variant | NM_014516.4(CNOT3):c.511C>T (p.Arg171Trp) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004547232] | uncertain significance | 19 | 54145625 | 54145625 | Human | 1 | name |
| 407427797 | CV3412095 | single nucleotide variant | NM_014516.4(CNOT3):c.403C>T (p.Leu135Phe) | not provided [RCV004592266] | uncertain significance | 19 | 54144252 | 54144252 | Human | | name |
| 407470508 | CV3425686 | single nucleotide variant | NM_016284.5(CNOT1):c.736G>T (p.Val246Leu) | Inborn genetic diseases [RCV004615462] | likely benign | 16 | 58585408 | 58585408 | Human | 1 | name |
| 407470518 | CV3425689 | single nucleotide variant | NM_016284.5(CNOT1):c.901C>T (p.His301Tyr) | Inborn genetic diseases [RCV004615465] | uncertain significance | 16 | 58583088 | 58583088 | Human | 1 | name |
| 407470563 | CV3425701 | single nucleotide variant | NM_014515.7(CNOT2):c.328G>A (p.Val110Ile) | Inborn genetic diseases [RCV004615477] | uncertain significance | 12 | 70329512 | 70329512 | Human | 1 | name |
| 407470570 | CV3425703 | single nucleotide variant | NM_014515.7(CNOT2):c.711C>G (p.Asn237Lys) | Inborn genetic diseases [RCV004615479] | uncertain significance | 12 | 70335499 | 70335499 | Human | 1 | name |
| 407470573 | CV3425704 | single nucleotide variant | NM_014515.7(CNOT2):c.446T>C (p.Ile149Thr) | Inborn genetic diseases [RCV004615480] | uncertain significance | 12 | 70330346 | 70330346 | Human | 1 | name |
| 407470660 | CV3425727 | single nucleotide variant | NM_144571.3(CNOT6L):c.209G>A (p.Arg70His) | not specified [RCV004615503] | uncertain significance | 4 | 77774635 | 77774635 | Human | | name |
| 407495954 | CV3496584 | single nucleotide variant | NM_014516.4(CNOT3):c.529C>G (p.Arg177Gly) | not provided [RCV004696785] | uncertain significance | 19 | 54145643 | 54145643 | Human | | name |
| 407572905 | CV3497306 | deletion | NM_014515.7(CNOT2):c.1369del (p.Gln457fs) | Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [RCV004699154] | likely pathogenic | 12 | 70344206 | 70344206 | Human | 1 | name |
| 408377551 | CV3500766 | single nucleotide variant | NM_016284.5(CNOT1):c.3528C>T (p.Leu1176=) | not provided [RCV004722416] | likely benign | 16 | 58547677 | 58547677 | Human | | name |
| 408369049 | CV3502732 | single nucleotide variant | NM_005444.3(CNOT9):c.680G>C (p.Arg227Pro) | not provided [RCV004723853] | uncertain significance | 2 | 218592656 | 218592656 | Human | | name |
| 408369924 | CV3502895 | single nucleotide variant | NM_014515.7(CNOT2):c.583G>A (p.Gly195Arg) | not provided [RCV004724016] | uncertain significance | 12 | 70332780 | 70332780 | Human | | name |
| 408387436 | CV3518849 | single nucleotide variant | NM_014516.4(CNOT3):c.629A>G (p.Tyr210Cys) | not provided [RCV004761168] | uncertain significance | 19 | 54145743 | 54145743 | Human | | name |
| 408394763 | CV3522062 | single nucleotide variant | NM_016284.5(CNOT1):c.334T>C (p.Phe112Leu) | Vissers-Bodmer syndrome [RCV004764889] | uncertain significance | 16 | 58587389 | 58587389 | Human | 1 | name |
| 408380716 | CV3523637 | single nucleotide variant | NM_016284.5(CNOT1):c.668T>C (p.Leu223Pro) | not provided [RCV004766035] | uncertain significance | 16 | 58585476 | 58585476 | Human | | name |
| 408390658 | CV3527665 | single nucleotide variant | NM_014516.4(CNOT3):c.635A>C (p.Asp212Ala) | not provided [RCV004774933] | uncertain significance | 19 | 54145749 | 54145749 | Human | | name |
| 408392642 | CV3528205 | single nucleotide variant | NM_005444.3(CNOT9):c.608A>G (p.Tyr203Cys) | not provided [RCV004775973] | uncertain significance | 2 | 218592371 | 218592371 | Human | | name |
| 408385829 | CV3528701 | single nucleotide variant | NM_014516.4(CNOT3):c.644A>G (p.Gln215Arg) | not provided [RCV004772534] | uncertain significance | 19 | 54145758 | 54145758 | Human | | name |
| 408389001 | CV3529172 | single nucleotide variant | NM_014516.4(CNOT3):c.407A>G (p.Asn136Ser) | not provided [RCV004773994] | uncertain significance | 19 | 54144256 | 54144256 | Human | | name |
| 596930969 | CV3529811 | single nucleotide variant | NM_014516.4(CNOT3):c.628T>C (p.Tyr210His) | not provided [RCV004780861] | uncertain significance | 19 | 54145742 | 54145742 | Human | | name |
| 596923406 | CV3530390 | single nucleotide variant | NM_016284.5(CNOT1):c.342G>C (p.Gln114His) | not provided [RCV004776989] | uncertain significance | 16 | 58587381 | 58587381 | Human | | name |
| 596923430 | CV3530415 | single nucleotide variant | NM_016284.5(CNOT1):c.301T>C (p.Tyr101His) | not provided [RCV004777014] | uncertain significance | 16 | 58587788 | 58587788 | Human | | name |
| 596926268 | CV3530752 | single nucleotide variant | NM_016284.5(CNOT1):c.800G>C (p.Cys267Ser) | not provided [RCV004778337] | uncertain significance | 16 | 58585344 | 58585344 | Human | | name |
| 596926939 | CV3530916 | single nucleotide variant | NM_005444.3(CNOT9):c.376G>T (p.Val126Phe) | not provided [RCV004778501] | uncertain significance | 2 | 218584667 | 218584667 | Human | | name |
| 596930016 | CV3531303 | single nucleotide variant | NM_005444.3(CNOT9):c.604A>C (p.Thr202Pro) | not provided [RCV004779877] | uncertain significance | 2 | 218592367 | 218592367 | Human | | name |
| 596931655 | CV3531923 | single nucleotide variant | NM_014516.4(CNOT3):c.868C>T (p.Arg290Cys) | not provided [RCV004781485] | uncertain significance | 19 | 54146631 | 54146631 | Human | | name |
| 596921304 | CV3534948 | single nucleotide variant | NM_014516.4(CNOT3):c.694G>A (p.Glu232Lys) | not provided [RCV004784506] | uncertain significance | 19 | 54145808 | 54145808 | Human | | name |
| 596921522 | CV3535144 | single nucleotide variant | NM_005444.3(CNOT9):c.712C>T (p.Arg238Ter) | not provided [RCV004784703] | uncertain significance | 2 | 218592688 | 218592688 | Human | | name |
| 596921816 | CV3535442 | single nucleotide variant | NM_016284.5(CNOT1):c.954T>A (p.Ser318Arg) | Vissers-Bodmer syndrome [RCV004784997] | uncertain significance | 16 | 58582883 | 58582883 | Human | 1 | name |
| 596928173 | CV3541396 | deletion | NM_014516.4(CNOT3):c.1149del (p.Ser384fs) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004797268] | likely pathogenic | 19 | 54148400 | 54148400 | Human | 1 | name |
| 596943629 | CV3542833 | single nucleotide variant | NM_005444.3(CNOT9):c.679C>A (p.Arg227Ser) | not provided [RCV004798417] | uncertain significance | 2 | 218592655 | 218592655 | Human | | name |
| 596944547 | CV3543427 | single nucleotide variant | NM_014516.4(CNOT3):c.620T>C (p.Val207Ala) | not provided [RCV004801548] | uncertain significance | 19 | 54145734 | 54145734 | Human | | name |
| 596944943 | CV3543597 | single nucleotide variant | NM_005444.3(CNOT9):c.583G>C (p.Gly195Arg) | not provided [RCV004801719] | uncertain significance | 2 | 218592346 | 218592346 | Human | | name |
| 596946879 | CV3546936 | deletion | NM_014516.4(CNOT3):c.1232del (p.Ser411fs) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810742] | pathogenic | 19 | 54148485 | 54148485 | Human | 1 | name |
| 596946882 | CV3546939 | duplication | NM_014516.4(CNOT3):c.1438dup (p.Ala480fs) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810745] | likely pathogenic | 19 | 54149586 | 54149587 | Human | 1 | name |
| 596945308 | CV3547822 | single nucleotide variant | NM_016284.5(CNOT1):c.6648T>C (p.Asn2216=) | not provided [RCV004809153] | likely benign | 16 | 58525315 | 58525315 | Human | | name |
| 596947468 | CV3549023 | single nucleotide variant | NM_016284.5(CNOT1):c.917A>G (p.Asp306Gly) | not provided [RCV004811347] | uncertain significance | 16 | 58583072 | 58583072 | Human | | name |
| 12845497 | CV363404 | single nucleotide variant | NM_005444.3(CNOT9):c.391C>T (p.Pro131Ser) | Malignant melanoma of skin [RCV000439915] | likely pathogenic | 2 | 218584682 | 218584682 | Human | 1 | name |
| 597798995 | CV3650461 | single nucleotide variant | NM_017546.5(CNOT11):c.180G>T (p.Arg60Ser) | not specified [RCV004904981] | uncertain significance | 2 | 101253144 | 101253144 | Human | | name |
| 597798998 | CV3650463 | single nucleotide variant | NM_017546.5(CNOT11):c.175G>A (p.Gly59Ser) | not specified [RCV004904983] | uncertain significance | 2 | 101253139 | 101253139 | Human | | name |
| 597799006 | CV3650467 | single nucleotide variant | NM_017546.5(CNOT11):c.1305T>C (p.Thr435=) | not specified [RCV004904987] | likely benign | 2 | 101269106 | 101269106 | Human | | name |
| 597647760 | CV3650469 | single nucleotide variant | NM_014515.7(CNOT2):c.850C>T (p.Pro284Ser) | Inborn genetic diseases [RCV004974075] | uncertain significance | 12 | 70337463 | 70337463 | Human | 1 | name |
| 597647770 | CV3650471 | single nucleotide variant | NM_014515.7(CNOT2):c.706C>G (p.Arg236Gly) | Inborn genetic diseases [RCV004974077] | uncertain significance | 12 | 70335494 | 70335494 | Human | 1 | name |
| 597647788 | CV3650476 | single nucleotide variant | NM_014516.4(CNOT3):c.812C>T (p.Pro271Leu) | Inborn genetic diseases [RCV004974081] | uncertain significance | 19 | 54146018 | 54146018 | Human | 1 | name |
| 597647793 | CV3650477 | single nucleotide variant | NM_014516.4(CNOT3):c.896C>T (p.Ser299Phe) | Inborn genetic diseases [RCV004974082] | uncertain significance | 19 | 54148149 | 54148149 | Human | 1 | name |
| 597631942 | CV3650478 | single nucleotide variant | NM_014516.4(CNOT3):c.727C>T (p.Pro243Ser) | Inborn genetic diseases [RCV004967888] | uncertain significance | 19 | 54145933 | 54145933 | Human | 1 | name |
| 597799034 | CV3650492 | single nucleotide variant | NM_001370472.1(CNOT6):c.21G>T (p.Glu7Asp) | not specified [RCV004905002] | uncertain significance | 5 | 180529297 | 180529297 | Human | | name |
| 597799046 | CV3650498 | single nucleotide variant | NM_013354.7(CNOT7):c.371A>G (p.Lys124Arg) | not specified [RCV004905008] | uncertain significance | 8 | 17237314 | 17237314 | Human | | name |
| 597799050 | CV3650500 | single nucleotide variant | NM_013354.7(CNOT7):c.378T>G (p.His126Gln) | not specified [RCV004905010] | uncertain significance | 8 | 17237307 | 17237307 | Human | | name |
| 597647685 | CV3653941 | single nucleotide variant | NM_016284.5(CNOT1):c.368A>G (p.Lys123Arg) | Inborn genetic diseases [RCV004974060] | uncertain significance | 16 | 58587355 | 58587355 | Human | 1 | name |
| 597647691 | CV3653942 | single nucleotide variant | NM_016284.5(CNOT1):c.527T>C (p.Ile176Thr) | Inborn genetic diseases [RCV004974061]|not provided [RCV005110132] | uncertain significance | 16 | 58586655 | 58586655 | Human | 1 | name |
| 597647725 | CV3653950 | deletion | NM_016284.5(CNOT1):c.2834del (p.Pro945fs) | Inborn genetic diseases [RCV004974068] | pathogenic | 16 | 58555308 | 58555308 | Human | 1 | name |
| 597713222 | CV3715510 | single nucleotide variant | NM_016284.5(CNOT1):c.581G>T (p.Gly194Val) | Holoprosencephaly 12 with or without pancreatic agenesis [RCV005009972] | uncertain significance | 16 | 58586601 | 58586601 | Human | 1 | name |
| 597712466 | CV3732941 | single nucleotide variant | NM_014516.4(CNOT3):c.439G>A (p.Glu147Lys) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005052136] | likely pathogenic | 19 | 54144288 | 54144288 | Human | 1 | name |
| 597715525 | CV3733196 | single nucleotide variant | NM_016284.5(CNOT1):c.3828G>A (p.Lys1276=) | not provided [RCV005052385] | uncertain significance | 16 | 58546672 | 58546672 | Human | | name |
| 597718882 | CV3733457 | single nucleotide variant | NM_005444.3(CNOT9):c.323C>T (p.Ser108Leu) | not provided [RCV005052647] | uncertain significance | 2 | 218584614 | 218584614 | Human | | name |
| 597892728 | CV3763368 | single nucleotide variant | NM_016284.5(CNOT1):c.425G>A (p.Arg142Lys) | not provided [RCV005110948] | uncertain significance | 16 | 58587209 | 58587209 | Human | | name |
| 597862150 | CV3766456 | single nucleotide variant | NM_016284.5(CNOT1):c.6012T>C (p.Pro2004=) | not provided [RCV005106181] | likely benign | 16 | 58532279 | 58532279 | Human | | name |
| 597953337 | CV3776386 | single nucleotide variant | NM_016284.5(CNOT1):c.6396C>T (p.Ile2132=) | not provided [RCV005121514] | likely benign | 16 | 58528532 | 58528532 | Human | | name |
| 597960447 | CV3798060 | single nucleotide variant | NM_016284.5(CNOT1):c.803C>T (p.Ala268Val) | not provided [RCV005138534] | uncertain significance | 16 | 58585341 | 58585341 | Human | | name |
| 597975209 | CV3798997 | single nucleotide variant | NM_016284.5(CNOT1):c.5763T>G (p.Pro1921=) | not provided [RCV005144393] | likely benign | 16 | 58534279 | 58534279 | Human | | name |
| 597903182 | CV3804597 | single nucleotide variant | NM_016284.5(CNOT1):c.532A>G (p.Ile178Val) | Holoprosencephaly 12 with or without pancreatic agenesis [RCV005358225]|not provided [RCV005153032] | uncertain significance | 16 | 58586650 | 58586650 | Human | 1 | name |
| 597938640 | CV3808284 | single nucleotide variant | NM_014516.4(CNOT3):c.703C>T (p.Pro235Ser) | not provided [RCV005158472] | uncertain significance | 19 | 54145817 | 54145817 | Human | | name |
| 597934063 | CV3810851 | single nucleotide variant | NM_016284.5(CNOT1):c.6375T>C (p.Cys2125=) | not provided [RCV005157560] | likely benign | 16 | 58528553 | 58528553 | Human | | name |
| 597953010 | CV3815889 | single nucleotide variant | NM_016284.5(CNOT1):c.5034T>C (p.Ala1678=) | not provided [RCV005161641] | likely benign | 16 | 58538873 | 58538873 | Human | | name |
| 597956912 | CV3818092 | single nucleotide variant | NM_014516.4(CNOT3):c.945G>C (p.Gln315His) | not provided [RCV005162543] | uncertain significance | 19 | 54148198 | 54148198 | Human | | name |
| 597966265 | CV3823731 | single nucleotide variant | NM_016284.5(CNOT1):c.998C>T (p.Ala333Val) | not provided [RCV005165151] | uncertain significance | 16 | 58582839 | 58582839 | Human | | name |
| 597878488 | CV3825937 | single nucleotide variant | NM_016284.5(CNOT1):c.5352G>T (p.Leu1784=) | not provided [RCV005177811] | likely benign | 16 | 58537953 | 58537953 | Human | | name |
| 597930868 | CV3827022 | single nucleotide variant | NM_016284.5(CNOT1):c.5835G>C (p.Leu1945=) | not provided [RCV005157035] | likely benign | 16 | 58534207 | 58534207 | Human | | name |
| 597972160 | CV3829488 | single nucleotide variant | NM_014516.4(CNOT3):c.401C>T (p.Thr134Met) | Inborn genetic diseases [RCV005323756]|not provided [RCV005167275] | likely benign|uncertain significance | 19 | 54144250 | 54144250 | Human | 1 | name |
| 597976430 | CV3829600 | single nucleotide variant | NM_016284.5(CNOT1):c.5871C>T (p.Val1957=) | not provided [RCV005169867] | likely benign | 16 | 58534171 | 58534171 | Human | | name |
| 597875403 | CV3829684 | single nucleotide variant | NM_014516.4(CNOT3):c.827A>C (p.Asn276Thr) | Complex neurodevelopmental disorder [RCV005358237]|not provided [RCV005177392] | benign | 19 | 54146033 | 54146033 | Human | 1 | name |
| 597892849 | CV3833347 | single nucleotide variant | NM_016284.5(CNOT1):c.4116A>G (p.Pro1372=) | not provided [RCV005180039] | likely benign | 16 | 58545382 | 58545382 | Human | | name |
| 597964311 | CV3848016 | single nucleotide variant | NM_016284.5(CNOT1):c.4290G>C (p.Leu1430=) | not provided [RCV005193895] | likely benign | 16 | 58543751 | 58543751 | Human | | name |
| 597925641 | CV3863512 | deletion | NM_005444.3(CNOT9):c.67_70del (p.Tyr23fs) | not provided [RCV005205837] | uncertain significance | 2 | 218580600 | 218580603 | Human | | name |
| 597925683 | CV3863523 | single nucleotide variant | NM_016284.5(CNOT1):c.625A>G (p.Thr209Ala) | not provided [RCV005205848] | uncertain significance | 16 | 58586557 | 58586557 | Human | | name |
| 598126698 | CV3882153 | single nucleotide variant | NM_016284.5(CNOT1):c.496A>C (p.Ser166Arg) | not provided [RCV005233704] | uncertain significance | 16 | 58586686 | 58586686 | Human | | name |
| 598126707 | CV3882162 | single nucleotide variant | NM_014515.7(CNOT2):c.917G>A (p.Gly306Asp) | not provided [RCV005233713] | uncertain significance | 12 | 70338459 | 70338459 | Human | | name |
| 598126900 | CV3882360 | single nucleotide variant | NM_005444.3(CNOT9):c.511A>G (p.Met171Val) | not provided [RCV005233911] | uncertain significance | 2 | 218587666 | 218587666 | Human | | name |
| 598125776 | CV3883267 | single nucleotide variant | NM_016284.5(CNOT1):c.304C>T (p.Gln102Ter) | Holoprosencephaly 12 with or without pancreatic agenesis [RCV005233142] | pathogenic | 16 | 58587785 | 58587785 | Human | 1 | name |
| 598126056 | CV3886046 | single nucleotide variant | NM_014516.4(CNOT3):c.554C>T (p.Thr185Ile) | not provided [RCV005241849] | uncertain significance | 19 | 54145668 | 54145668 | Human | | name |
| 598128411 | CV3887615 | single nucleotide variant | NM_016284.5(CNOT1):c.745A>G (p.Thr249Ala) | not provided [RCV005243788] | uncertain significance | 16 | 58585399 | 58585399 | Human | | name |
| 598221469 | CV3891936 | single nucleotide variant | NM_016284.5(CNOT1):c.439C>T (p.Gln147Ter) | Vissers-Bodmer syndrome [RCV005253275] | likely pathogenic | 16 | 58586743 | 58586743 | Human | 1 | name |
| 598202560 | CV3892818 | single nucleotide variant | NM_014515.7(CNOT2):c.821C>T (p.Ser274Leu) | not provided [RCV005255148] | uncertain significance | 12 | 70337434 | 70337434 | Human | | name |
| 598243657 | CV3895092 | single nucleotide variant | NM_016284.5(CNOT1):c.4104G>A (p.Ala1368=) | Holoprosencephaly 12 with or without pancreatic agenesis [RCV005365569] | uncertain significance | 16 | 58545394 | 58545394 | Human | 1 | name |
| 598257778 | CV3941286 | single nucleotide variant | NM_016284.5(CNOT1):c.6456G>A (p.Val2152=) | Inborn genetic diseases [RCV005324484] | uncertain significance | 16 | 58526136 | 58526136 | Human | 1 | name |
| 598257782 | CV3941287 | single nucleotide variant | NM_016284.5(CNOT1):c.472C>T (p.Arg158Cys) | Inborn genetic diseases [RCV005324485] | uncertain significance | 16 | 58586710 | 58586710 | Human | 1 | name |
| 598257841 | CV3941302 | single nucleotide variant | NM_014515.7(CNOT2):c.758C>G (p.Ala253Gly) | Inborn genetic diseases [RCV005324499] | uncertain significance | 12 | 70335546 | 70335546 | Human | 1 | name |
| 598257851 | CV3941305 | single nucleotide variant | NM_014516.4(CNOT3):c.973T>G (p.Ser325Ala) | Inborn genetic diseases [RCV005324502] | uncertain significance | 19 | 54148226 | 54148226 | Human | 1 | name |
| 598257865 | CV3941310 | single nucleotide variant | NM_014516.4(CNOT3):c.995C>T (p.Ser332Phe) | Inborn genetic diseases [RCV005324506] | uncertain significance | 19 | 54148248 | 54148248 | Human | 1 | name |
| 598257912 | CV3941319 | single nucleotide variant | NM_144571.3(CNOT6L):c.206G>C (p.Ser69Thr) | not specified [RCV005324515] | uncertain significance | 4 | 77774638 | 77774638 | Human | | name |
| 616933958 | CV4011931 | single nucleotide variant | NM_016284.5(CNOT1):c.536A>C (p.Glu179Ala) | not specified [RCV005408480] | uncertain significance | 16 | 58586646 | 58586646 | Human | | name |
| 616934068 | CV4012046 | single nucleotide variant | NM_016284.5(CNOT1):c.3465G>A (p.Thr1155=) | not specified [RCV005408597] | likely benign | 16 | 58549776 | 58549776 | Human | | name |
| 616934448 | CV4012453 | single nucleotide variant | NM_014515.7(CNOT2):c.400A>G (p.Met134Val) | not specified [RCV005409490] | uncertain significance | 12 | 70330300 | 70330300 | Human | | name |
| 616935334 | CV4015929 | single nucleotide variant | NM_014516.4(CNOT3):c.418G>A (p.Asp140Asn) | not provided [RCV005414793] | uncertain significance | 19 | 54144267 | 54144267 | Human | | name |
| 617149857 | CV4017301 | single nucleotide variant | NM_016284.5(CNOT1):c.530C>G (p.Ala177Gly) | not provided [RCV005416958] | uncertain significance | 16 | 58586652 | 58586652 | Human | | name |
| 617149997 | CV4021596 | single nucleotide variant | NM_016284.5(CNOT1):c.4446A>C (p.Pro1482=) | not provided [RCV005425565] | likely benign | 16 | 58542557 | 58542557 | Human | | name |
| 13532437 | CV512436 | duplication | NM_014516.4(CNOT3):c.1440dup (p.Gly481fs) | Inborn genetic diseases [RCV000624202] | pathogenic|likely pathogenic | 19 | 54149592 | 54149593 | Human | 1 | name |
| 15014858 | CV679320 | single nucleotide variant | NM_014515.7(CNOT2):c.946A>T (p.Lys316Ter) | Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [RCV000852366] | pathogenic | 12 | 70338488 | 70338488 | Human | 1 | name |
| 15156192 | CV749062 | single nucleotide variant | NM_144571.3(CNOT6L):c.1420T>C (p.Leu474=) | not provided [RCV000924620] | likely benign | 4 | 77726202 | 77726202 | Human | | name |
| 21066818 | CV797926 | single nucleotide variant | NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser) | Complex neurodevelopmental disorder [RCV005367659]|Inborn genetic diseases [RCV002550705]|Moyamoya angiopathy with developmental delay [RCV001261735]|not provided [RCV000997013]|not specified [RCV002249603] | likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 54148163 | 54148163 | Human | 2 | name |
| 8630189 | CV85336 | single nucleotide variant | NM_005444.3(CNOT9):c.392C>T (p.Pro131Leu) | CNOT9-associated neurodevelopmental disorder [RCV002286407] | likely pathogenic|not provided | 2 | 218584683 | 218584683 | Human | | name |
| 38596569 | CV963902 | single nucleotide variant | NM_014516.4(CNOT3):c.710C>T (p.Ala237Val) | Intellectual disability [RCV001251949]|not provided [RCV003698852] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 19 | 54145916 | 54145916 | Human | 2 | name |
| 38596568 | CV963903 | single nucleotide variant | NM_014516.4(CNOT3):c.959C>T (p.Pro320Leu) | Inborn genetic diseases [RCV002570480]|Intellectual disability [RCV001251948]|not provided [RCV003708586] | likely benign|uncertain significance | 19 | 54148212 | 54148212 | Human | 3 | name |
| 40815061 | CV970347 | single nucleotide variant | NM_014516.4(CNOT3):c.643C>T (p.Gln215Ter) | Moyamoya angiopathy with developmental delay [RCV001261733] | likely pathogenic | 19 | 54145757 | 54145757 | Human | | name |
| 40886527 | CV973105 | single nucleotide variant | NM_014516.4(CNOT3):c.520G>A (p.Glu174Lys) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV001265648] | likely pathogenic | 19 | 54145634 | 54145634 | Human | 1 | name |
| 40887407 | CV974180 | duplication | NM_014516.4(CNOT3):c.1032dup (p.Ala345fs) | Inborn genetic diseases [RCV001266982] | pathogenic | 19 | 54148281 | 54148282 | Human | 1 | name |
| 155797766 | CV1860474 | single nucleotide variant | NM_014516.4(CNOT3):c.1594C>T (p.Pro532Ser) | not provided [RCV002467116] | uncertain significance | 19 | 54149747 | 54149747 | Human | | name |
| 156166450 | CV1866903 | single nucleotide variant | NM_016284.5(CNOT1):c.2287A>G (p.Thr763Ala) | not provided [RCV002508455] | uncertain significance | 16 | 58558518 | 58558518 | Human | | name |
| 156383652 | CV1870587 | single nucleotide variant | NM_016284.5(CNOT1):c.2087G>A (p.Arg696His) | not provided [RCV003067381] | uncertain significance | 16 | 58560255 | 58560255 | Human | | name |
| 156403223 | CV1904420 | single nucleotide variant | NM_016284.5(CNOT1):c.1216C>T (p.Leu406Phe) | not provided [RCV002585167] | uncertain significance | 16 | 58580760 | 58580760 | Human | | name |
| 156214551 | CV1930904 | single nucleotide variant | NM_016284.5(CNOT1):c.1328G>A (p.Arg443Gln) | Holoprosencephaly 12 with or without pancreatic agenesis [RCV005356310]|Inborn genetic diseases [RCV002644141]|not provided [RCV002644140] | likely benign|uncertain significance | 16 | 58580648 | 58580648 | Human | 2 | name |
| 156094953 | CV2004523 | single nucleotide variant | NM_016284.5(CNOT1):c.2008A>G (p.Ile670Val) | not provided [RCV002639359] | uncertain significance | 16 | 58560334 | 58560334 | Human | | name |
| 156398422 | CV2013066 | single nucleotide variant | NM_016284.5(CNOT1):c.1046A>G (p.Asn349Ser) | not provided [RCV002725790] | uncertain significance | 16 | 58581514 | 58581514 | Human | | name |
| 156273999 | CV2023374 | single nucleotide variant | NM_014516.4(CNOT3):c.1736C>T (p.Pro579Leu) | Inborn genetic diseases [RCV002746736]|not provided [RCV002746735] | uncertain significance | 19 | 54152458 | 54152458 | Human | 1 | name |
| 156258173 | CV2026018 | single nucleotide variant | NM_014516.4(CNOT3):c.1025G>T (p.Gly342Val) | Inborn genetic diseases [RCV002746215]|not provided [RCV002746214]|not specified [RCV005406512] | likely benign|uncertain significance | 19 | 54148278 | 54148278 | Human | 1 | name |
| 156040474 | CV2026359 | single nucleotide variant | NM_014516.4(CNOT3):c.1249G>A (p.Gly417Ser) | not provided [RCV002736164] | uncertain significance | 19 | 54148502 | 54148502 | Human | | name |
| 156053261 | CV2027474 | single nucleotide variant | NM_014516.4(CNOT3):c.1447G>C (p.Val483Leu) | not provided [RCV002736581] | uncertain significance | 19 | 54149600 | 54149600 | Human | | name |
| 156096413 | CV2030984 | single nucleotide variant | NM_016284.5(CNOT1):c.2282A>G (p.Asn761Ser) | Inborn genetic diseases [RCV005321231]|not provided [RCV002761144] | likely benign|uncertain significance | 16 | 58558523 | 58558523 | Human | 1 | name |
| 156064955 | CV2065536 | single nucleotide variant | NM_016284.5(CNOT1):c.2419A>T (p.Arg807Trp) | not provided [RCV002846896] | uncertain significance | 16 | 58556907 | 58556907 | Human | | name |
| 155968581 | CV2066191 | single nucleotide variant | NM_016284.5(CNOT1):c.1590G>T (p.Gln530His) | not provided [RCV002841969] | uncertain significance | 16 | 58576577 | 58576577 | Human | | name |
| 156227363 | CV2115409 | single nucleotide variant | NM_014516.4(CNOT3):c.1007C>G (p.Thr336Ser) | not provided [RCV002918800] | uncertain significance | 19 | 54148260 | 54148260 | Human | | name |
| 156037265 | CV2120013 | single nucleotide variant | NM_016284.5(CNOT1):c.1641G>A (p.Met547Ile) | not provided [RCV002949475] | likely benign | 16 | 58576526 | 58576526 | Human | | name |
| 156150662 | CV2131723 | single nucleotide variant | NM_016284.5(CNOT1):c.2299A>G (p.Ser767Gly) | Inborn genetic diseases [RCV002982640]|not provided [RCV002982639] | likely benign | 16 | 58558506 | 58558506 | Human | 1 | name |
| 156318209 | CV2137869 | single nucleotide variant | NM_016284.5(CNOT1):c.2023G>A (p.Ala675Thr) | not provided [RCV002963029] | uncertain significance | 16 | 58560319 | 58560319 | Human | | name |
| 156319792 | CV2137984 | single nucleotide variant | NM_016284.5(CNOT1):c.1612A>G (p.Ile538Val) | not provided [RCV002963123] | uncertain significance | 16 | 58576555 | 58576555 | Human | | name |
| 156202730 | CV2150157 | single nucleotide variant | NM_016284.5(CNOT1):c.1555A>G (p.Ile519Val) | not provided [RCV003006382] | uncertain significance | 16 | 58578728 | 58578728 | Human | | name |
| 156331444 | CV2187997 | single nucleotide variant | NM_016284.5(CNOT1):c.2055A>T (p.Arg685Ser) | not provided [RCV003063721] | uncertain significance | 16 | 58560287 | 58560287 | Human | | name |
| 156054117 | CV2192589 | single nucleotide variant | NM_014516.4(CNOT3):c.2161C>T (p.Gln721Ter) | not provided [RCV003037015] | uncertain significance | 19 | 54153838 | 54153838 | Human | | name |
| 156315612 | CV2192924 | single nucleotide variant | NM_144571.3(CNOT6L):c.428A>G (p.Asn143Ser) | not specified [RCV004069485] | uncertain significance | 4 | 77756924 | 77756924 | Human | | name |
| 156148952 | CV2197060 | single nucleotide variant | NM_001301073.2(CNOT8):c.52A>G (p.Ser18Gly) | not specified [RCV004071502] | uncertain significance | 5 | 154863330 | 154863330 | Human | | name |
| 156366505 | CV2203343 | single nucleotide variant | NM_015442.3(CNOT10):c.853A>G (p.Met285Val) | not specified [RCV004072575] | uncertain significance | 3 | 32720222 | 32720222 | Human | | name |
| 156135492 | CV2213401 | single nucleotide variant | NM_014516.4(CNOT3):c.1400G>C (p.Ser467Thr) | Inborn genetic diseases [RCV002696721] | likely benign | 19 | 54148737 | 54148737 | Human | 1 | name |
| 156134133 | CV2216981 | single nucleotide variant | NM_144571.3(CNOT6L):c.554C>T (p.Pro185Leu) | not specified [RCV004085346] | uncertain significance | 4 | 77748321 | 77748321 | Human | | name |
| 156390061 | CV2223014 | single nucleotide variant | NM_015442.3(CNOT10):c.703T>C (p.Cys235Arg) | not specified [RCV004103601] | uncertain significance | 3 | 32717196 | 32717196 | Human | | name |
| 156299041 | CV2248585 | single nucleotide variant | NM_014516.4(CNOT3):c.1187G>A (p.Ser396Asn) | Inborn genetic diseases [RCV002807939]|not provided [RCV005099662] | likely benign | 19 | 54148440 | 54148440 | Human | 1 | name |
| 156359797 | CV2257949 | single nucleotide variant | NM_015442.3(CNOT10):c.371G>A (p.Arg124Gln) | not specified [RCV004129763] | uncertain significance | 3 | 32708761 | 32708761 | Human | | name |
| 156359154 | CV2261015 | single nucleotide variant | NM_017546.5(CNOT11):c.609G>C (p.Gln203His) | not specified [RCV004127678] | uncertain significance | 2 | 101257885 | 101257885 | Human | | name |
| 155970445 | CV2262235 | single nucleotide variant | NM_014516.4(CNOT3):c.1389C>A (p.Asn463Lys) | Inborn genetic diseases [RCV002817655] | uncertain significance | 19 | 54148726 | 54148726 | Human | 1 | name |
| 156148267 | CV2265264 | single nucleotide variant | NM_016284.5(CNOT1):c.1862A>G (p.Lys621Arg) | Inborn genetic diseases [RCV002826627]|Vissers-Bodmer syndrome [RCV004784112] | uncertain significance | 16 | 58574726 | 58574726 | Human | 2 | name |
| 156153066 | CV2265961 | single nucleotide variant | NM_015442.3(CNOT10):c.674C>T (p.Ala225Val) | not specified [RCV004126801] | uncertain significance | 3 | 32717167 | 32717167 | Human | | name |
| 156361256 | CV2269201 | single nucleotide variant | NM_016284.5(CNOT1):c.2507C>A (p.Ala836Glu) | Inborn genetic diseases [RCV002812859] | uncertain significance | 16 | 58555881 | 58555881 | Human | 1 | name |
| 156345545 | CV2291090 | single nucleotide variant | NM_016284.5(CNOT1):c.1838T>C (p.Ile613Thr) | Inborn genetic diseases [RCV002900810] | uncertain significance | 16 | 58574750 | 58574750 | Human | 1 | name |
| 156186217 | CV2295006 | single nucleotide variant | NM_016284.5(CNOT1):c.1459G>T (p.Ala487Ser) | Inborn genetic diseases [RCV002892262] | uncertain significance | 16 | 58578824 | 58578824 | Human | 1 | name |
| 156192124 | CV2301864 | single nucleotide variant | NM_014516.4(CNOT3):c.1628T>G (p.Leu543Trp) | Inborn genetic diseases [RCV002892605] | uncertain significance | 19 | 54152248 | 54152248 | Human | 1 | name |
| 156248491 | CV2307206 | single nucleotide variant | NM_015442.3(CNOT10):c.607C>T (p.His203Tyr) | not specified [RCV004159673] | uncertain significance | 3 | 32716258 | 32716258 | Human | | name |
| 156303736 | CV2308454 | single nucleotide variant | NM_014515.7(CNOT2):c.1148C>A (p.Thr383Lys) | Inborn genetic diseases [RCV002898180] | uncertain significance | 12 | 70338792 | 70338792 | Human | 1 | name |
| 156210208 | CV2309654 | single nucleotide variant | NM_014516.4(CNOT3):c.1624T>A (p.Ser542Thr) | Inborn genetic diseases [RCV002875408] | uncertain significance | 19 | 54152244 | 54152244 | Human | 1 | name |
| 156289141 | CV2309655 | single nucleotide variant | NM_014516.4(CNOT3):c.1625C>T (p.Ser542Phe) | Inborn genetic diseases [RCV002897045] | uncertain significance | 19 | 54152245 | 54152245 | Human | 1 | name |
| 156200802 | CV2313103 | single nucleotide variant | NM_017546.5(CNOT11):c.349C>G (p.Leu117Val) | not specified [RCV004161374] | uncertain significance | 2 | 101253313 | 101253313 | Human | | name |
| 156210575 | CV2314309 | single nucleotide variant | NM_014516.4(CNOT3):c.1423G>T (p.Ala475Ser) | Inborn genetic diseases [RCV002893741] | uncertain significance | 19 | 54149576 | 54149576 | Human | 1 | name |
| 156396138 | CV2326114 | single nucleotide variant | NM_016284.5(CNOT1):c.1394A>G (p.Gln465Arg) | Inborn genetic diseases [RCV002944830] | uncertain significance | 16 | 58578889 | 58578889 | Human | 1 | name |
| 156217663 | CV2348170 | single nucleotide variant | NM_015442.3(CNOT10):c.370C>T (p.Arg124Trp) | not specified [RCV004190814] | uncertain significance | 3 | 32708760 | 32708760 | Human | | name |
| 156080105 | CV2351241 | single nucleotide variant | NM_015442.3(CNOT10):c.808G>A (p.Val270Met) | not specified [RCV004214088] | uncertain significance | 3 | 32720177 | 32720177 | Human | | name |
| 156172158 | CV2380783 | single nucleotide variant | NM_014516.4(CNOT3):c.1526C>T (p.Thr509Met) | Inborn genetic diseases [RCV002698874] | uncertain significance | 19 | 54149679 | 54149679 | Human | 1 | name |
| 156391161 | CV2385141 | single nucleotide variant | NM_016284.5(CNOT1):c.2036A>G (p.Asn679Ser) | Inborn genetic diseases [RCV002724780] | likely benign | 16 | 58560306 | 58560306 | Human | 1 | name |
| 156051841 | CV2386452 | single nucleotide variant | NM_014516.4(CNOT3):c.1165C>T (p.Arg389Trp) | Inborn genetic diseases [RCV002704994] | uncertain significance | 19 | 54148418 | 54148418 | Human | 1 | name |
| 243058603 | CV2405170 | single nucleotide variant | NM_014516.4(CNOT3):c.1166G>A (p.Arg389Gln) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005417569] | uncertain significance | 19 | 54148419 | 54148419 | Human | 1 | name |
| 243058964 | CV2407519 | single nucleotide variant | NM_014516.4(CNOT3):c.1358A>T (p.Gln453Leu) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003145069] | uncertain significance | 19 | 54148695 | 54148695 | Human | 1 | name |
| 243058965 | CV2407520 | single nucleotide variant | NM_014516.4(CNOT3):c.1151G>A (p.Ser384Asn) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003145070] | uncertain significance | 19 | 54148404 | 54148404 | Human | 1 | name |
| 243058967 | CV2407521 | single nucleotide variant | NM_014516.4(CNOT3):c.1085G>A (p.Ser362Asn) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003145071] | uncertain significance | 19 | 54148338 | 54148338 | Human | 1 | name |
| 243059119 | CV2415512 | single nucleotide variant | NM_014516.4(CNOT3):c.1754C>T (p.Pro585Leu) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003148090] | uncertain significance | 19 | 54152476 | 54152476 | Human | 1 | name |
| 329365736 | CV2441088 | single nucleotide variant | NM_015442.3(CNOT10):c.652A>C (p.Ile218Leu) | not specified [RCV004261447] | uncertain significance | 3 | 32716303 | 32716303 | Human | | name |
| 329351881 | CV2476644 | single nucleotide variant | NM_016284.5(CNOT1):c.1654T>C (p.Tyr552His) | not provided [RCV003222876] | uncertain significance | 16 | 58576513 | 58576513 | Human | | name |
| 329350854 | CV2477684 | single nucleotide variant | NM_014516.4(CNOT3):c.2011C>T (p.Leu671Phe) | not provided [RCV003223796] | uncertain significance | 19 | 54152973 | 54152973 | Human | | name |
| 329351024 | CV2477854 | single nucleotide variant | NM_016284.5(CNOT1):c.2450C>T (p.Pro817Leu) | not provided [RCV003223967] | uncertain significance | 16 | 58556876 | 58556876 | Human | | name |
| 329954576 | CV2669125 | single nucleotide variant | NM_014516.4(CNOT3):c.2209A>G (p.Lys737Glu) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003232958] | likely pathogenic | 19 | 54155354 | 54155354 | Human | 1 | name |
| 401774400 | CV2691722 | single nucleotide variant | NM_016284.5(CNOT1):c.1016A>C (p.Glu339Ala) | Inborn genetic diseases [RCV003285739] | uncertain significance | 16 | 58582821 | 58582821 | Human | 1 | name |
| 401760014 | CV2698708 | single nucleotide variant | NM_014516.4(CNOT3):c.1040C>G (p.Ala347Gly) | Inborn genetic diseases [RCV003280361] | likely benign | 19 | 54148293 | 54148293 | Human | 1 | name |
| 401761893 | CV2699447 | single nucleotide variant | NM_014516.4(CNOT3):c.1310C>T (p.Pro437Leu) | Inborn genetic diseases [RCV003281009] | likely benign | 19 | 54148647 | 54148647 | Human | 1 | name |
| 401764174 | CV2700517 | single nucleotide variant | NM_016284.5(CNOT1):c.2959C>G (p.His987Asp) | Inborn genetic diseases [RCV003281764] | uncertain significance | 16 | 58553793 | 58553793 | Human | 1 | name |
| 401731289 | CV2701295 | single nucleotide variant | NM_016284.5(CNOT1):c.1397A>G (p.Tyr466Cys) | Inborn genetic diseases [RCV003271680] | uncertain significance | 16 | 58578886 | 58578886 | Human | 1 | name |
| 401722075 | CV2706358 | single nucleotide variant | NM_014516.4(CNOT3):c.1795G>A (p.Val599Ile) | Inborn genetic diseases [RCV003267881] | uncertain significance | 19 | 54152517 | 54152517 | Human | 1 | name |
| 401738919 | CV2708217 | single nucleotide variant | NM_016284.5(CNOT1):c.2906C>T (p.Pro969Leu) | Inborn genetic diseases [RCV003291992] | uncertain significance | 16 | 58553846 | 58553846 | Human | 1 | name |
| 401740002 | CV2709766 | single nucleotide variant | NM_015442.3(CNOT10):c.752C>T (p.Pro251Leu) | not specified [RCV004320750] | uncertain significance | 3 | 32720121 | 32720121 | Human | | name |
| 401731805 | CV2712163 | single nucleotide variant | NM_016284.5(CNOT1):c.1495C>T (p.Arg499Cys) | Inborn genetic diseases [RCV003271846] | uncertain significance | 16 | 58578788 | 58578788 | Human | 1 | name |
| 401765328 | CV2712648 | single nucleotide variant | NM_016284.5(CNOT1):c.1948A>G (p.Thr650Ala) | Inborn genetic diseases [RCV003282228] | uncertain significance | 16 | 58574640 | 58574640 | Human | 1 | name |
| 401736970 | CV2717868 | single nucleotide variant | NM_015442.3(CNOT10):c.451G>A (p.Val151Met) | not specified [RCV004321840] | uncertain significance | 3 | 32713247 | 32713247 | Human | | name |
| 401767708 | CV2729851 | single nucleotide variant | NM_017546.5(CNOT11):c.604C>T (p.Arg202Cys) | not specified [RCV004332858] | uncertain significance | 2 | 101257880 | 101257880 | Human | | name |
| 401729487 | CV2733092 | single nucleotide variant | NM_017546.5(CNOT11):c.921C>G (p.Asp307Glu) | not specified [RCV004332024] | uncertain significance | 2 | 101264933 | 101264933 | Human | | name |
| 401725957 | CV2736012 | single nucleotide variant | NM_014516.4(CNOT3):c.1456G>A (p.Gly486Ser) | not provided [RCV003312457] | uncertain significance | 19 | 54149609 | 54149609 | Human | | name |
| 401798004 | CV2739172 | single nucleotide variant | NM_016284.5(CNOT1):c.2360C>T (p.Thr787Ile) | not provided [RCV003318820] | uncertain significance | 16 | 58556966 | 58556966 | Human | | name |
| 401798312 | CV2739315 | single nucleotide variant | NM_016284.5(CNOT1):c.2756G>A (p.Gly919Asp) | not provided [RCV003318963] | uncertain significance | 16 | 58555386 | 58555386 | Human | | name |
| 401797730 | CV2741078 | single nucleotide variant | NM_014516.4(CNOT3):c.1094C>A (p.Ser365Ter) | not provided [RCV003322242] | likely pathogenic | 19 | 54148347 | 54148347 | Human | | name |
| 401799011 | CV2741586 | single nucleotide variant | NM_016284.5(CNOT1):c.1297A>G (p.Ile433Val) | not provided [RCV003322994] | uncertain significance | 16 | 58580679 | 58580679 | Human | | name |
| 401830636 | CV2748260 | single nucleotide variant | NM_014516.4(CNOT3):c.1274G>A (p.Gly425Asp) | not provided [RCV003329869] | uncertain significance | 19 | 54148527 | 54148527 | Human | | name |
| 401871341 | CV2749532 | single nucleotide variant | NM_016284.5(CNOT1):c.2585C>A (p.Pro862Gln) | not provided [RCV003332660] | uncertain significance | 16 | 58555803 | 58555803 | Human | | name |
| 401889965 | CV2762037 | single nucleotide variant | NM_015442.3(CNOT10):c.881T>C (p.Met294Thr) | not specified [RCV004341857] | uncertain significance | 3 | 32725468 | 32725468 | Human | | name |
| 401862694 | CV2762350 | single nucleotide variant | NM_017546.5(CNOT11):c.634A>G (p.Met212Val) | not specified [RCV004335462] | uncertain significance | 2 | 101257910 | 101257910 | Human | | name |
| 401888785 | CV2764700 | single nucleotide variant | NM_017546.5(CNOT11):c.863C>T (p.Pro288Leu) | not specified [RCV004334817] | uncertain significance | 2 | 101264875 | 101264875 | Human | | name |
| 401869754 | CV2772509 | single nucleotide variant | NM_014516.4(CNOT3):c.1510C>T (p.Pro504Ser) | Inborn genetic diseases [RCV003345906] | uncertain significance | 19 | 54149663 | 54149663 | Human | 1 | name |
| 401898454 | CV2787932 | single nucleotide variant | NM_014516.4(CNOT3):c.1082C>G (p.Pro361Arg) | Inborn genetic diseases [RCV003376633] | uncertain significance | 19 | 54148335 | 54148335 | Human | 1 | name |
| 401884482 | CV2789696 | single nucleotide variant | NM_016284.5(CNOT1):c.2182C>G (p.Pro728Ala) | Inborn genetic diseases [RCV003386478] | uncertain significance | 16 | 58558623 | 58558623 | Human | 1 | name |
| 401860581 | CV2794522 | single nucleotide variant | NM_016284.5(CNOT1):c.2906C>G (p.Pro969Arg) | not provided [RCV003387690] | uncertain significance | 16 | 58553846 | 58553846 | Human | | name |
| 401903313 | CV2807993 | single nucleotide variant | NM_016284.5(CNOT1):c.2463G>T (p.Gln821His) | not provided [RCV003419349] | uncertain significance | 16 | 58556863 | 58556863 | Human | | name |
| 401929180 | CV2818743 | single nucleotide variant | NM_014516.4(CNOT3):c.1003A>C (p.Ser335Arg) | not provided [RCV003407104] | uncertain significance | 19 | 54148256 | 54148256 | Human | | name |
| 401937399 | CV2818744 | single nucleotide variant | NM_014516.4(CNOT3):c.1204G>A (p.Gly402Ser) | not provided [RCV003415409] | benign | 19 | 54148457 | 54148457 | Human | | name |
| 401937400 | CV2818745 | single nucleotide variant | NM_014516.4(CNOT3):c.1435G>A (p.Gly479Arg) | not provided [RCV003415410] | uncertain significance | 19 | 54149588 | 54149588 | Human | | name |
| 401912875 | CV2830053 | single nucleotide variant | NM_014516.4(CNOT3):c.1000T>G (p.Leu334Val) | not provided [RCV003441267] | uncertain significance | 19 | 54148253 | 54148253 | Human | | name |
| 401913312 | CV2830317 | single nucleotide variant | NM_014516.4(CNOT3):c.1939C>T (p.Pro647Ser) | not provided [RCV003441532] | uncertain significance | 19 | 54152901 | 54152901 | Human | | name |
| 401943713 | CV2840160 | single nucleotide variant | NM_016284.5(CNOT1):c.2903A>G (p.Tyr968Cys) | not provided [RCV003456935] | uncertain significance | 16 | 58553849 | 58553849 | Human | | name |
| 404989496 | CV2849838 | single nucleotide variant | NM_016284.5(CNOT1):c.1438T>C (p.Cys480Arg) | not provided [RCV003490580] | uncertain significance | 16 | 58578845 | 58578845 | Human | | name |
| 402474397 | CV2858156 | single nucleotide variant | NM_016284.5(CNOT1):c.1000C>A (p.His334Asn) | not provided [RCV003543125] | uncertain significance | 16 | 58582837 | 58582837 | Human | | name |
| 402506460 | CV2927798 | single nucleotide variant | NM_016284.5(CNOT1):c.1744G>A (p.Val582Ile) | not provided [RCV003574453] | uncertain significance | 16 | 58575090 | 58575090 | Human | | name |
| 402487511 | CV2928558 | single nucleotide variant | NM_016284.5(CNOT1):c.1892T>A (p.Leu631His) | not provided [RCV003572680] | uncertain significance | 16 | 58574696 | 58574696 | Human | | name |
| 402515702 | CV2936230 | single nucleotide variant | NM_014516.4(CNOT3):c.1253G>C (p.Gly418Ala) | not provided [RCV003662843] | uncertain significance | 19 | 54148506 | 54148506 | Human | | name |
| 405068243 | CV2936648 | single nucleotide variant | NM_014516.4(CNOT3):c.1046C>T (p.Pro349Leu) | not provided [RCV003659141] | uncertain significance | 19 | 54148299 | 54148299 | Human | | name |
| 405182714 | CV2952651 | single nucleotide variant | NM_016284.5(CNOT1):c.1013T>C (p.Val338Ala) | not provided [RCV003676386] | uncertain significance | 16 | 58582824 | 58582824 | Human | | name |
| 405182337 | CV3024350 | single nucleotide variant | NM_016284.5(CNOT1):c.1953G>A (p.Met651Ile) | not provided [RCV003705585] | uncertain significance | 16 | 58574635 | 58574635 | Human | | name |
| 405180469 | CV3027697 | single nucleotide variant | NM_014516.4(CNOT3):c.1313C>T (p.Ala438Val) | not provided [RCV003705401] | uncertain significance | 19 | 54148650 | 54148650 | Human | | name |
| 405069574 | CV3031088 | single nucleotide variant | NM_014516.4(CNOT3):c.1064C>T (p.Pro355Leu) | not provided [RCV003698237] | uncertain significance | 19 | 54148317 | 54148317 | Human | | name |
| 402507921 | CV3036176 | single nucleotide variant | NM_016284.5(CNOT1):c.2015C>A (p.Thr672Asn) | not provided [RCV003715387] | uncertain significance | 16 | 58560327 | 58560327 | Human | | name |
| 405267606 | CV3186870 | single nucleotide variant | NM_016284.5(CNOT1):c.1792G>C (p.Asp598His) | not provided [RCV003886953] | uncertain significance | 16 | 58575042 | 58575042 | Human | | name |
| 405269002 | CV3187187 | single nucleotide variant | NM_016284.5(CNOT1):c.2477C>T (p.Pro826Leu) | not provided [RCV003887271] | uncertain significance | 16 | 58556849 | 58556849 | Human | | name |
| 405701583 | CV3226007 | single nucleotide variant | NM_014516.4(CNOT3):c.1579C>T (p.Gln527Ter) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV003989449] | pathogenic | 19 | 54149732 | 54149732 | Human | 1 | name |
| 405673921 | CV3304565 | single nucleotide variant | NM_016284.5(CNOT1):c.2015C>G (p.Thr672Ser) | Inborn genetic diseases [RCV004441950]|not provided [RCV005104614] | uncertain significance | 16 | 58560327 | 58560327 | Human | 1 | name |
| 405673924 | CV3304566 | single nucleotide variant | NM_016284.5(CNOT1):c.2269C>G (p.Leu757Val) | Inborn genetic diseases [RCV004441951] | uncertain significance | 16 | 58558536 | 58558536 | Human | 1 | name |
| 405673930 | CV3304567 | single nucleotide variant | NM_016284.5(CNOT1):c.2380C>T (p.Leu794Phe) | Inborn genetic diseases [RCV004441952] | uncertain significance | 16 | 58556946 | 58556946 | Human | 1 | name |
| 405673933 | CV3304568 | single nucleotide variant | NM_016284.5(CNOT1):c.2585C>T (p.Pro862Leu) | Inborn genetic diseases [RCV004441953] | uncertain significance | 16 | 58555803 | 58555803 | Human | 1 | name |
| 405674087 | CV3304582 | single nucleotide variant | NM_015442.3(CNOT10):c.352G>A (p.Val118Ile) | not specified [RCV004441967] | uncertain significance | 3 | 32708742 | 32708742 | Human | | name |
| 405674091 | CV3304583 | single nucleotide variant | NM_015442.3(CNOT10):c.551A>G (p.Asn184Ser) | not specified [RCV004441968] | uncertain significance | 3 | 32713347 | 32713347 | Human | | name |
| 405674095 | CV3304584 | single nucleotide variant | NM_015442.3(CNOT10):c.649A>C (p.Lys217Gln) | not specified [RCV004441969] | uncertain significance | 3 | 32716300 | 32716300 | Human | | name |
| 405674099 | CV3304585 | single nucleotide variant | NM_015442.3(CNOT10):c.835G>A (p.Ala279Thr) | not specified [RCV004441970] | uncertain significance | 3 | 32720204 | 32720204 | Human | | name |
| 405674102 | CV3304586 | single nucleotide variant | NM_015442.3(CNOT10):c.944A>G (p.Tyr315Cys) | not specified [RCV004441971] | uncertain significance | 3 | 32725531 | 32725531 | Human | | name |
| 405674116 | CV3304589 | single nucleotide variant | NM_017546.5(CNOT11):c.879T>G (p.Ile293Met) | not specified [RCV004441974] | uncertain significance | 2 | 101264891 | 101264891 | Human | | name |
| 405674143 | CV3304595 | single nucleotide variant | NM_014516.4(CNOT3):c.1013C>T (p.Pro338Leu) | Inborn genetic diseases [RCV004441980] | uncertain significance | 19 | 54148266 | 54148266 | Human | 1 | name |
| 405674148 | CV3304596 | single nucleotide variant | NM_014516.4(CNOT3):c.1081C>T (p.Pro361Ser) | Inborn genetic diseases [RCV004441981] | uncertain significance | 19 | 54148334 | 54148334 | Human | 1 | name |
| 405674152 | CV3304597 | single nucleotide variant | NM_014516.4(CNOT3):c.1331G>C (p.Ser444Thr) | Inborn genetic diseases [RCV004441982] | uncertain significance | 19 | 54148668 | 54148668 | Human | 1 | name |
| 405674156 | CV3304598 | single nucleotide variant | NM_014516.4(CNOT3):c.1568A>G (p.Asn523Ser) | Inborn genetic diseases [RCV004441983] | uncertain significance | 19 | 54149721 | 54149721 | Human | 1 | name |
| 405674161 | CV3304599 | single nucleotide variant | NM_014516.4(CNOT3):c.1748A>C (p.Gln583Pro) | Complex neurodevelopmental disorder [RCV005358101]|Inborn genetic diseases [RCV004441984] | likely benign|uncertain significance | 19 | 54152470 | 54152470 | Human | 2 | name |
| 405674165 | CV3304600 | single nucleotide variant | NM_014516.4(CNOT3):c.1778T>A (p.Ile593Lys) | Inborn genetic diseases [RCV004441985] | uncertain significance | 19 | 54152500 | 54152500 | Human | 1 | name |
| 405674169 | CV3304601 | single nucleotide variant | NM_014516.4(CNOT3):c.1819C>G (p.Leu607Val) | Inborn genetic diseases [RCV004441986] | uncertain significance | 19 | 54152541 | 54152541 | Human | 1 | name |
| 405674175 | CV3304602 | single nucleotide variant | NM_014516.4(CNOT3):c.1861G>A (p.Ala621Thr) | Inborn genetic diseases [RCV004441987] | uncertain significance | 19 | 54152583 | 54152583 | Human | 1 | name |
| 405674186 | CV3304604 | single nucleotide variant | NM_014516.4(CNOT3):c.2249G>C (p.Arg750Pro) | Inborn genetic diseases [RCV004441989] | uncertain significance | 19 | 54155394 | 54155394 | Human | 1 | name |
| 405674235 | CV3304615 | single nucleotide variant | NM_001370472.1(CNOT6):c.34C>T (p.Arg12Trp) | not specified [RCV004442000] | uncertain significance | 5 | 180529310 | 180529310 | Human | | name |
| 405674254 | CV3304620 | single nucleotide variant | NM_001370472.1(CNOT6):c.94G>A (p.Ala32Thr) | not specified [RCV004442005] | uncertain significance | 5 | 180529370 | 180529370 | Human | | name |
| 407428061 | CV3412325 | single nucleotide variant | NM_016284.5(CNOT1):c.1894G>A (p.Ala632Thr) | not provided [RCV004593493] | uncertain significance | 16 | 58574694 | 58574694 | Human | | name |
| 407429507 | CV3413894 | single nucleotide variant | NM_014515.7(CNOT2):c.1232A>G (p.Gln411Arg) | Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies [RCV004595303] | uncertain significance | 12 | 70342160 | 70342160 | Human | 1 | name |
| 407470502 | CV3425684 | single nucleotide variant | NM_016284.5(CNOT1):c.1844C>T (p.Ala615Val) | Inborn genetic diseases [RCV004615460] | likely benign | 16 | 58574744 | 58574744 | Human | 1 | name |
| 407470515 | CV3425688 | single nucleotide variant | NM_016284.5(CNOT1):c.1898C>G (p.Pro633Arg) | Inborn genetic diseases [RCV004615464] | uncertain significance | 16 | 58574690 | 58574690 | Human | 1 | name |
| 407470520 | CV3425690 | single nucleotide variant | NM_016284.5(CNOT1):c.1033C>T (p.Leu345Phe) | Inborn genetic diseases [RCV004615466] | uncertain significance | 16 | 58582804 | 58582804 | Human | 1 | name |
| 407470523 | CV3425691 | single nucleotide variant | NM_016284.5(CNOT1):c.1705G>A (p.Ala569Thr) | Inborn genetic diseases [RCV004615467] | uncertain significance | 16 | 58575129 | 58575129 | Human | 1 | name |
| 407470530 | CV3425693 | single nucleotide variant | NM_016284.5(CNOT1):c.1550C>T (p.Ser517Leu) | Inborn genetic diseases [RCV004615469] | uncertain significance | 16 | 58578733 | 58578733 | Human | 1 | name |
| 407470534 | CV3425694 | single nucleotide variant | NM_015442.3(CNOT10):c.844C>T (p.Pro282Ser) | not specified [RCV004615470] | uncertain significance | 3 | 32720213 | 32720213 | Human | | name |
| 407470542 | CV3425696 | single nucleotide variant | NM_015442.3(CNOT10):c.955G>T (p.Ala319Ser) | not specified [RCV004615472] | uncertain significance | 3 | 32725542 | 32725542 | Human | | name |
| 407470546 | CV3425697 | single nucleotide variant | NM_015442.3(CNOT10):c.729G>A (p.Met243Ile) | not specified [RCV004615473] | uncertain significance | 3 | 32717222 | 32717222 | Human | | name |
| 407470559 | CV3425700 | single nucleotide variant | NM_017546.5(CNOT11):c.472C>G (p.Pro158Ala) | not specified [RCV004615476] | uncertain significance | 2 | 101253436 | 101253436 | Human | | name |
| 407470567 | CV3425702 | single nucleotide variant | NM_014515.7(CNOT2):c.1343A>G (p.Tyr448Cys) | Inborn genetic diseases [RCV004615478] | uncertain significance | 12 | 70344180 | 70344180 | Human | 1 | name |
| 407470576 | CV3425705 | single nucleotide variant | NM_014516.4(CNOT3):c.1811C>G (p.Pro604Arg) | Inborn genetic diseases [RCV004615481] | uncertain significance | 19 | 54152533 | 54152533 | Human | 1 | name |
| 407470579 | CV3425706 | single nucleotide variant | NM_014516.4(CNOT3):c.1153A>T (p.Thr385Ser) | Inborn genetic diseases [RCV004615482] | uncertain significance | 19 | 54148406 | 54148406 | Human | 1 | name |
| 407470583 | CV3425707 | single nucleotide variant | NM_014516.4(CNOT3):c.1007C>A (p.Thr336Asn) | Inborn genetic diseases [RCV004615483] | uncertain significance | 19 | 54148260 | 54148260 | Human | 1 | name |
| 407470591 | CV3425709 | single nucleotide variant | NM_014516.4(CNOT3):c.1970C>T (p.Ser657Leu) | Inborn genetic diseases [RCV004615485] | uncertain significance | 19 | 54152932 | 54152932 | Human | 1 | name |
| 407470594 | CV3425710 | single nucleotide variant | NM_014516.4(CNOT3):c.1633T>G (p.Ser545Ala) | Inborn genetic diseases [RCV004615486] | uncertain significance | 19 | 54152253 | 54152253 | Human | 1 | name |
| 407470596 | CV3425711 | single nucleotide variant | NM_014516.4(CNOT3):c.1385A>G (p.His462Arg) | Inborn genetic diseases [RCV004615487] | uncertain significance | 19 | 54148722 | 54148722 | Human | 1 | name |
| 407470655 | CV3425726 | single nucleotide variant | NM_001370472.1(CNOT6):c.65A>G (p.Glu22Gly) | not specified [RCV004615502] | uncertain significance | 5 | 180529341 | 180529341 | Human | | name |
| 407470669 | CV3425729 | single nucleotide variant | NM_001301073.2(CNOT8):c.730T>C (p.Leu244=) | not specified [RCV004615505] | likely benign | 5 | 154875290 | 154875290 | Human | | name |
| 408381327 | CV3501313 | single nucleotide variant | NM_014516.4(CNOT3):c.1597G>C (p.Glu533Gln) | Inborn genetic diseases [RCV004981173]|not provided [RCV004727402] | uncertain significance | 19 | 54149750 | 54149750 | Human | 1 | name |
| 408377105 | CV3501483 | single nucleotide variant | NM_016284.5(CNOT1):c.2853T>G (p.Tyr951Ter) | Vissers-Bodmer syndrome [RCV004727570] | likely pathogenic | 16 | 58555289 | 58555289 | Human | 1 | name |
| 408373123 | CV3502202 | single nucleotide variant | NM_014516.4(CNOT3):c.1511C>T (p.Pro504Leu) | not provided [RCV004725789] | uncertain significance | 19 | 54149664 | 54149664 | Human | | name |
| 408373692 | CV3502325 | single nucleotide variant | NM_016284.5(CNOT1):c.1978G>A (p.Gly660Arg) | not provided [RCV004725912] | uncertain significance | 16 | 58574610 | 58574610 | Human | | name |
| 408387267 | CV3518781 | single nucleotide variant | NM_014515.7(CNOT2):c.1211C>A (p.Ala404Glu) | not provided [RCV004761100] | uncertain significance | 12 | 70342139 | 70342139 | Human | | name |
| 408387515 | CV3518878 | single nucleotide variant | NM_016284.5(CNOT1):c.2470A>G (p.Met824Val) | not provided [RCV004761197] | uncertain significance | 16 | 58556856 | 58556856 | Human | | name |
| 408388653 | CV3520846 | single nucleotide variant | NM_014516.4(CNOT3):c.1652C>A (p.Ala551Asp) | not provided [RCV004761679] | uncertain significance | 19 | 54152272 | 54152272 | Human | | name |
| 408390750 | CV3520997 | single nucleotide variant | NM_016284.5(CNOT1):c.1310C>T (p.Pro437Leu) | not provided [RCV004762819] | uncertain significance | 16 | 58580666 | 58580666 | Human | | name |
| 408394570 | CV3521488 | single nucleotide variant | NM_014516.4(CNOT3):c.1994G>A (p.Arg665His) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004764285] | uncertain significance | 19 | 54152956 | 54152956 | Human | 1 | name |
| 408389102 | CV3522905 | single nucleotide variant | NM_014516.4(CNOT3):c.2232C>A (p.Tyr744Ter) | not provided [RCV004769286] | uncertain significance | 19 | 54155377 | 54155377 | Human | | name |
| 408388025 | CV3527320 | single nucleotide variant | NM_014516.4(CNOT3):c.1735C>T (p.Pro579Ser) | not provided [RCV004773622] | uncertain significance | 19 | 54152457 | 54152457 | Human | | name |
| 408390363 | CV3527523 | single nucleotide variant | NM_014516.4(CNOT3):c.1966C>T (p.His656Tyr) | not provided [RCV004774790] | uncertain significance | 19 | 54152928 | 54152928 | Human | | name |
| 408390470 | CV3527569 | single nucleotide variant | NM_016284.5(CNOT1):c.2097T>A (p.Ser699Arg) | not provided [RCV004774836] | uncertain significance | 16 | 58560245 | 58560245 | Human | | name |
| 408386103 | CV3528796 | single nucleotide variant | NM_016284.5(CNOT1):c.2546A>G (p.Asn849Ser) | not provided [RCV004772629] | uncertain significance | 16 | 58555842 | 58555842 | Human | | name |
| 596922064 | CV3529591 | duplication | NM_016284.5(CNOT1):c.4205dup (p.Glu1403fs) | Holoprosencephaly 12 with or without pancreatic agenesis [RCV004776467] | uncertain significance | 16 | 58543835 | 58543836 | Human | 1 | name |
| 596931250 | CV3531583 | single nucleotide variant | NM_016284.5(CNOT1):c.1926A>T (p.Gln642His) | not provided [RCV004781145] | uncertain significance | 16 | 58574662 | 58574662 | Human | | name |
| 596924510 | CV3532289 | single nucleotide variant | NM_014515.7(CNOT2):c.1214C>T (p.Ser405Phe) | not provided [RCV004777400] | uncertain significance | 12 | 70342142 | 70342142 | Human | | name |
| 596921882 | CV3535510 | single nucleotide variant | NM_014516.4(CNOT3):c.1931C>T (p.Pro644Leu) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004785065] | uncertain significance | 19 | 54152893 | 54152893 | Human | 1 | name |
| 596925151 | CV3536939 | single nucleotide variant | NM_016284.5(CNOT1):c.2455T>C (p.Phe819Leu) | Vissers-Bodmer syndrome [RCV004785933] | uncertain significance | 16 | 58556871 | 58556871 | Human | 1 | name |
| 596928468 | CV3540419 | single nucleotide variant | NM_016284.5(CNOT1):c.1042C>A (p.Leu348Met) | Vissers-Bodmer syndrome [RCV004794746] | uncertain significance | 16 | 58582795 | 58582795 | Human | 1 | name |
| 596943688 | CV3543003 | single nucleotide variant | NM_014515.7(CNOT2):c.1574C>T (p.Pro525Leu) | not provided [RCV004798588] | uncertain significance | 12 | 70353866 | 70353866 | Human | | name |
| 596944945 | CV3543599 | single nucleotide variant | NM_016284.5(CNOT1):c.1244A>G (p.Asn415Ser) | not provided [RCV004801721] | uncertain significance | 16 | 58580732 | 58580732 | Human | | name |
| 596942623 | CV3544180 | single nucleotide variant | NM_014516.4(CNOT3):c.1037C>G (p.Pro346Arg) | not specified [RCV004800171] | uncertain significance | 19 | 54148290 | 54148290 | Human | | name |
| 596946889 | CV3546946 | single nucleotide variant | NM_014516.4(CNOT3):c.2095C>T (p.His699Tyr) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810752] | likely pathogenic | 19 | 54153772 | 54153772 | Human | 1 | name |
| 596946890 | CV3546947 | single nucleotide variant | NM_014516.4(CNOT3):c.2204G>T (p.Arg735Leu) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810753] | likely pathogenic | 19 | 54155349 | 54155349 | Human | 1 | name |
| 596946891 | CV3546948 | single nucleotide variant | NM_014516.4(CNOT3):c.2240T>C (p.Leu747Pro) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV004810754] | likely pathogenic | 19 | 54155385 | 54155385 | Human | 1 | name |
| 596947512 | CV3549069 | single nucleotide variant | NM_014516.4(CNOT3):c.1569T>A (p.Asn523Lys) | not provided [RCV004811393] | uncertain significance | 19 | 54149722 | 54149722 | Human | | name |
| 596938887 | CV3549878 | single nucleotide variant | NM_014515.7(CNOT2):c.1478C>T (p.Thr493Ile) | not provided [RCV004812919] | uncertain significance | 12 | 70346266 | 70346266 | Human | | name |
| 597648359 | CV3551711 | single nucleotide variant | NM_014516.4(CNOT3):c.2233C>T (p.Arg745Cys) | not provided [RCV004820424] | uncertain significance | 19 | 54155378 | 54155378 | Human | | name |
| 597632685 | CV3552885 | single nucleotide variant | NM_014516.4(CNOT3):c.2128G>C (p.Glu710Gln) | not provided [RCV004823715] | uncertain significance | 19 | 54153805 | 54153805 | Human | | name |
| 597632779 | CV3552901 | single nucleotide variant | NM_014516.4(CNOT3):c.1319T>G (p.Val440Gly) | not provided [RCV004823731] | uncertain significance | 19 | 54148656 | 54148656 | Human | | name |
| 597798991 | CV3650459 | single nucleotide variant | NM_015442.3(CNOT10):c.331A>T (p.Met111Leu) | not specified [RCV004904979] | uncertain significance | 3 | 32708721 | 32708721 | Human | | name |
| 597798993 | CV3650460 | single nucleotide variant | NM_017546.5(CNOT11):c.941A>C (p.Lys314Thr) | not specified [RCV004904980] | uncertain significance | 2 | 101264953 | 101264953 | Human | | name |
| 597799002 | CV3650465 | single nucleotide variant | NM_017546.5(CNOT11):c.358A>G (p.Ser120Gly) | not specified [RCV004904985] | uncertain significance | 2 | 101253322 | 101253322 | Human | | name |
| 597799004 | CV3650466 | single nucleotide variant | NM_017546.5(CNOT11):c.330G>C (p.Met110Ile) | not specified [RCV004904986] | uncertain significance | 2 | 101253294 | 101253294 | Human | | name |
| 597647765 | CV3650470 | single nucleotide variant | NM_014515.7(CNOT2):c.1418A>G (p.Lys473Arg) | Inborn genetic diseases [RCV004974076] | uncertain significance | 12 | 70346206 | 70346206 | Human | 1 | name |
| 597647775 | CV3650473 | single nucleotide variant | NM_014516.4(CNOT3):c.1703G>A (p.Arg568Gln) | Inborn genetic diseases [RCV004974078] | uncertain significance | 19 | 54152323 | 54152323 | Human | 1 | name |
| 597647785 | CV3650475 | single nucleotide variant | NM_014516.4(CNOT3):c.1694T>G (p.Leu565Arg) | Inborn genetic diseases [RCV004974080] | uncertain significance | 19 | 54152314 | 54152314 | Human | 1 | name |
| 597647798 | CV3650479 | single nucleotide variant | NM_014516.4(CNOT3):c.1007C>T (p.Thr336Ile) | Inborn genetic diseases [RCV004974083] | uncertain significance | 19 | 54148260 | 54148260 | Human | 1 | name |
| 597799026 | CV3650488 | single nucleotide variant | NM_001370472.1(CNOT6):c.83A>G (p.Lys28Arg) | not specified [RCV004904998] | uncertain significance | 5 | 180529359 | 180529359 | Human | | name |
| 597799042 | CV3650496 | single nucleotide variant | NM_144571.3(CNOT6L):c.770G>T (p.Arg257Leu) | not specified [RCV004905006] | uncertain significance | 4 | 77742243 | 77742243 | Human | | name |
| 597799044 | CV3650497 | single nucleotide variant | NM_144571.3(CNOT6L):c.853A>G (p.Ile285Val) | not specified [RCV004905007] | uncertain significance | 4 | 77742160 | 77742160 | Human | | name |
| 597799056 | CV3650503 | single nucleotide variant | NM_001301073.2(CNOT8):c.85G>C (p.Glu29Gln) | not specified [RCV004905013] | uncertain significance | 5 | 154863363 | 154863363 | Human | | name |
| 597647707 | CV3653946 | single nucleotide variant | NM_016284.5(CNOT1):c.1508T>C (p.Ile503Thr) | Inborn genetic diseases [RCV004974065] | uncertain significance | 16 | 58578775 | 58578775 | Human | 1 | name |
| 597647719 | CV3653948 | single nucleotide variant | NM_016284.5(CNOT1):c.1945G>T (p.Ala649Ser) | Inborn genetic diseases [RCV004974067] | uncertain significance | 16 | 58574643 | 58574643 | Human | 1 | name |
| 597647730 | CV3653951 | single nucleotide variant | NM_016284.5(CNOT1):c.2499G>C (p.Trp833Cys) | Inborn genetic diseases [RCV004974069] | uncertain significance | 16 | 58555889 | 58555889 | Human | 1 | name |
| 597798978 | CV3653958 | single nucleotide variant | NM_015442.3(CNOT10):c.329G>A (p.Ser110Asn) | not specified [RCV004904972] | uncertain significance | 3 | 32708719 | 32708719 | Human | | name |
| 597862248 | CV3766471 | single nucleotide variant | NM_016284.5(CNOT1):c.2365A>G (p.Ile789Val) | not provided [RCV005106196] | uncertain significance | 16 | 58556961 | 58556961 | Human | | name |
| 597874662 | CV3775524 | single nucleotide variant | NM_014516.4(CNOT3):c.1055C>T (p.Ala352Val) | not provided [RCV005123254] | uncertain significance | 19 | 54148308 | 54148308 | Human | | name |
| 597953204 | CV3795488 | single nucleotide variant | NM_016284.5(CNOT1):c.1135T>G (p.Tyr379Asp) | not provided [RCV005136498] | uncertain significance | 16 | 58581425 | 58581425 | Human | | name |
| 597963724 | CV3795895 | single nucleotide variant | NM_016284.5(CNOT1):c.1105C>T (p.Arg369Cys) | Inborn genetic diseases [RCV005323737]|not provided [RCV005139385] | uncertain significance | 16 | 58581455 | 58581455 | Human | 1 | name |
| 597857908 | CV3816993 | single nucleotide variant | NM_014516.4(CNOT3):c.1126G>A (p.Ala376Thr) | not provided [RCV005146374]|not specified [RCV005417503] | uncertain significance | 19 | 54148379 | 54148379 | Human | | name |
| 597972148 | CV3829482 | single nucleotide variant | NM_014516.4(CNOT3):c.1591G>A (p.Ala531Thr) | not provided [RCV005167269] | likely benign | 19 | 54149744 | 54149744 | Human | | name |
| 597831349 | CV3830751 | single nucleotide variant | NM_016284.5(CNOT1):c.2042T>C (p.Met681Thr) | not provided [RCV005170149] | uncertain significance | 16 | 58560300 | 58560300 | Human | | name |
| 597866330 | CV3834445 | single nucleotide variant | NM_016284.5(CNOT1):c.1613T>C (p.Ile538Thr) | not provided [RCV005175812] | uncertain significance | 16 | 58576554 | 58576554 | Human | | name |
| 597868131 | CV3858248 | single nucleotide variant | NM_016284.5(CNOT1):c.1045A>C (p.Asn349His) | not provided [RCV005196991] | uncertain significance | 16 | 58581515 | 58581515 | Human | | name |
| 597935026 | CV3863593 | single nucleotide variant | NM_014516.4(CNOT3):c.2129A>G (p.Glu710Gly) | not provided [RCV005207406] | uncertain significance | 19 | 54153806 | 54153806 | Human | | name |
| 597831615 | CV3863876 | single nucleotide variant | NM_014516.4(CNOT3):c.1502C>T (p.Pro501Leu) | Intellectual developmental disorder with speech delay, autism, and dysmorphic facies [RCV005208290] | uncertain significance | 19 | 54149655 | 54149655 | Human | 1 | name |
| 598125781 | CV3885933 | single nucleotide variant | NM_016284.5(CNOT1):c.2708C>G (p.Pro903Arg) | not provided [RCV005241736] | uncertain significance | 16 | 58555434 | 58555434 | Human | | name |
| 598125935 | CV3885986 | single nucleotide variant | NM_016284.5(CNOT1):c.1901A>G (p.Glu634Gly) | Inborn genetic diseases [RCV005315857]|not provided [RCV005241789] | uncertain significance | 16 | 58574687 | 58574687 | Human | 1 | name |
| 598176328 | CV3891157 | single nucleotide variant | NM_014516.4(CNOT3):c.1519T>C (p.Ser507Pro) | not provided [RCV005252010] | uncertain significance | 19 | 54149672 | 54149672 | Human | | name |
| 598159741 | CV3897150 | single nucleotide variant | NM_014515.7(CNOT2):c.1063T>C (p.Phe355Leu) | not provided [RCV005368124] | uncertain significance | 12 | 70338707 | 70338707 | Human | | name |
| 598257793 | CV3941290 | single nucleotide variant | NM_016284.5(CNOT1):c.1310C>A (p.Pro437Gln) | Inborn genetic diseases [RCV005324488] | uncertain significance | 16 | 58580666 | 58580666 | Human | 1 | name |
| 598257812 | CV3941296 | single nucleotide variant | NM_015442.3(CNOT10):c.478A>G (p.Ile160Val) | not specified [RCV005324493] | uncertain significance | 3 | 32713274 | 32713274 | Human | | name |
| 598257823 | CV3941298 | single nucleotide variant | NM_015442.3(CNOT10):c.914C>T (p.Ala305Val) | not specified [RCV005324495] | uncertain significance | 3 | 32725501 | 32725501 | Human | | name |
| 598257832 | CV3941300 | single nucleotide variant | NM_017546.5(CNOT11):c.911C>T (p.Thr304Met) | not specified [RCV005324497] | uncertain significance | 2 | 101264923 | 101264923 | Human | | name |
| 598257836 | CV3941301 | single nucleotide variant | NM_017546.5(CNOT11):c.533C>G (p.Thr178Ser) | not specified [RCV005324498] | uncertain significance | 2 | 101257809 | 101257809 | Human | | name |
| 598257844 | CV3941303 | single nucleotide variant | NM_014516.4(CNOT3):c.1012C>G (p.Pro338Ala) | Inborn genetic diseases [RCV005324500] | uncertain significance | 19 | 54148265 | 54148265 | Human | 1 | name |
| 598257847 | CV3941304 | single nucleotide variant | NM_014516.4(CNOT3):c.1189G>T (p.Gly397Ter) | Inborn genetic diseases [RCV005324501] | pathogenic | 19 | 54148442 | 54148442 | Human | 1 | name |
| 598257853 | CV3941306 | single nucleotide variant | NM_014516.4(CNOT3):c.1171C>T (p.Pro391Ser) | Inborn genetic diseases [RCV005324503] | likely benign | 19 | 54148424 | 54148424 | Human | 1 | name |
| 598257860 | CV3941309 | single nucleotide variant | NM_014516.4(CNOT3):c.1454C>T (p.Pro485Leu) | Inborn genetic diseases [RCV005324505] | uncertain significance | 19 | 54149607 | 54149607 | Human | 1 | name |
| 598257870 | CV3941311 | single nucleotide variant | NM_014516.4(CNOT3):c.1210G>A (p.Gly404Arg) | Inborn genetic diseases [RCV005324507] | uncertain significance | 19 | 54148463 | 54148463 | Human | 1 | name |
| 616938202 | CV4013127 | single nucleotide variant | NM_014516.4(CNOT3):c.1076C>T (p.Pro359Leu) | not provided [RCV005410594] | uncertain significance | 19 | 54148329 | 54148329 | Human | | name |
| 616937869 | CV4013286 | single nucleotide variant | NM_016284.5(CNOT1):c.2536G>A (p.Asp846Asn) | not provided [RCV005410753] | uncertain significance | 16 | 58555852 | 58555852 | Human | | name |
| 616937444 | CV4013432 | single nucleotide variant | NM_016284.5(CNOT1):c.2560C>T (p.Arg854Ter) | Vissers-Bodmer syndrome [RCV005410995] | likely pathogenic | 16 | 58555828 | 58555828 | Human | 1 | name |
| 616937759 | CV4014828 | single nucleotide variant | NM_014516.4(CNOT3):c.1587C>G (p.Ser529Arg) | not provided [RCV005411844] | uncertain significance | 19 | 54149740 | 54149740 | Human | | name |
| 616936156 | CV4016220 | single nucleotide variant | NM_016284.5(CNOT1):c.1982G>A (p.Ser661Asn) | not provided [RCV005415086] | uncertain significance | 16 | 58560360 | 58560360 | Human | | name |
| 617150334 | CV4021714 | single nucleotide variant | NM_014516.4(CNOT3):c.2066A>G (p.Lys689Arg) | not provided [RCV005425683] | uncertain significance | 19 | 54153743 | 54153743 | Human | | name |
| 617154498 | CV4022437 | single nucleotide variant | NM_016284.5(CNOT1):c.1177G>A (p.Asp393Asn) | not provided [RCV005429794] | uncertain significance | 16 | 58581383 | 58581383 | Human | | name |
| 617154207 | CV4022467 | single nucleotide variant | NM_014516.4(CNOT3):c.1654A>C (p.Ile552Leu) | not provided [RCV005429824] | uncertain significance | 19 | 54152274 | 54152274 | Human | | name |
| 39456421 | CV965549 | single nucleotide variant | NM_016284.5(CNOT1):c.1240A>G (p.Ile414Val) | Holoprosencephaly 12 with or without pancreatic agenesis [RCV004799299] | uncertain significance | 16 | 58580736 | 58580736 | Human | 1 | name |
| 40816262 | CV966901 | single nucleotide variant | NM_016284.5(CNOT1):c.2698C>T (p.Arg900Cys) | Vissers-Bodmer syndrome [RCV001257580] | pathogenic | 16 | 58555444 | 58555444 | Human | 1 | name |
| 40815062 | CV970348 | single nucleotide variant | NM_014516.4(CNOT3):c.1564C>A (p.Leu522Ile) | Moyamoya angiopathy with developmental delay [RCV001261734] | likely pathogenic | 19 | 54149717 | 54149717 | Human | | name |