| 127244108 | CV1053802 | single nucleotide variant | NM_001080510.5(METTL23):c.407+6T>C | Intellectual disability, autosomal recessive 44 [RCV001375999] | uncertain significance | 17 | 76733383 | 76733383 | Human | 1 | name |
| 155799089 | CV1862327 | duplication | NM_001080510.5(METTL23):c.322+2dup | Intellectual disability, autosomal recessive 44 [RCV002471732] | pathogenic | 17 | 76733216 | 76733217 | Human | 1 | name |
| 401856094 | CV2750398 | deletion | NM_001080510.5(METTL23):c.322+1del | Intellectual disability, autosomal recessive 44 [RCV003333945] | pathogenic | 17 | 76733215 | 76733215 | Human | 1 | name |
| 12848965 | CV376585 | single nucleotide variant | NM_001080510.5(METTL23):c.407+1G>C | not provided [RCV000421646] | likely pathogenic | 17 | 76733378 | 76733378 | Human | | name |
| 12896228 | CV390605 | microsatellite | NM_152559.3(METTL27):c.389-13CA[7] | not specified [RCV000455068] | likely benign | 7 | 73840121 | 73840122 | Human | | name |
| 15186399 | CV776408 | single nucleotide variant | NM_001080510.5(METTL23):c.323-6C>T | not provided [RCV000931341] | likely benign | 17 | 76733287 | 76733287 | Human | | name |
| 8581465 | CV115904 | single nucleotide variant | NM_001123364.1(METTL24):c.319-4088C>A | Lung cancer [RCV000096427] | uncertain significance | 6 | 110326960 | 110326960 | Human | | name |
| 156126797 | CV2223713 | deletion | NM_001080510.5(METTL23):c.85-8_85-6del | Inborn genetic diseases [RCV002708200] | uncertain significance | 17 | 76732970 | 76732972 | Human | 1 | name |
| 401938511 | CV2811062 | duplication | NM_024109.4(METTL22):c.1180-120_1180-81dup | not provided [RCV003417632] | likely benign | 16 | 8645986 | 8645987 | Human | | name |
| 401938510 | CV2811061 | insertion | NM_024109.4(METTL22):c.1180-104_1180-103insATGTTGTCTAACTACTCTCCTTGCCTGCTCCGTGGCTGAC | not provided [RCV003417631] | likely benign | 16 | 8645986 | 8645987 | Human | | name |
| 405290337 | CV3200847 | single nucleotide variant | NM_001080510.5(METTL23):c.366G>C (p.Lys122Asn) | METTL23-related disorder [RCV003984511] | likely benign | 17 | 76733336 | 76733336 | Human | | name , trait , alternate_id |
| 12850043 | CV363736 | single nucleotide variant | NM_001080510.5(METTL23):c.136G>C (p.Glu46Gln) | METTL23-related disorder [RCV003912597]|not provided [RCV000440669] | benign|likely benign | 17 | 76733029 | 76733029 | Human | 1 | name , trait , alternate_id |
| 401911475 | CV2811060 | single nucleotide variant | NM_024109.4(METTL22):c.21G>A (p.Ala7=) | not provided [RCV003426576] | likely benign | 16 | 8625686 | 8625686 | Human | | name |
| 401887706 | CV2772104 | single nucleotide variant | NM_032230.3(METTL25):c.5C>T (p.Ala2Val) | not specified [RCV004344759] | uncertain significance | 12 | 82358570 | 82358570 | Human | | name |
| 405659805 | CV3278412 | single nucleotide variant | NM_181725.4(METTL2A):c.8G>C (p.Gly3Ala) | not specified [RCV004416898] | uncertain significance | 17 | 62423910 | 62423910 | Human | | name |
| 156265943 | CV2275436 | single nucleotide variant | NM_032230.3(METTL25):c.16C>T (p.Pro6Ser) | not specified [RCV004135312] | uncertain significance | 12 | 82358581 | 82358581 | Human | | name |
| 407503276 | CV3450089 | single nucleotide variant | NM_024109.4(METTL22):c.20C>T (p.Ala7Val) | not specified [RCV004645421] | uncertain significance | 16 | 8625685 | 8625685 | Human | | name |
| 598226252 | CV3982135 | single nucleotide variant | NM_181725.4(METTL2A):c.17C>A (p.Pro6His) | not specified [RCV005380589] | uncertain significance | 17 | 62423919 | 62423919 | Human | | name |
| 156398319 | CV2200661 | single nucleotide variant | NM_032230.3(METTL25):c.95C>G (p.Ser32Cys) | not specified [RCV004081323] | uncertain significance | 12 | 82358660 | 82358660 | Human | | name |
| 329389397 | CV2467319 | single nucleotide variant | NM_018396.3(METTL2B):c.83C>T (p.Pro28Leu) | not specified [RCV004285116] | uncertain significance | 7 | 128476848 | 128476848 | Human | | name |
| 401774324 | CV2702742 | single nucleotide variant | NM_152559.3(METTL27):c.37C>T (p.Arg13Trp) | not specified [RCV004318982] | uncertain significance | 7 | 73842104 | 73842104 | Human | | name |
| 401922505 | CV2825762 | single nucleotide variant | NM_152559.3(METTL27):c.639G>A (p.Pro213=) | not provided [RCV003433872] | likely benign | 7 | 73834842 | 73834842 | Human | | name |
| 405694898 | CV3278342 | single nucleotide variant | NM_024109.4(METTL22):c.77T>A (p.Leu26His) | not specified [RCV004424348] | uncertain significance | 16 | 8625742 | 8625742 | Human | | name |
| 405695016 | CV3278364 | single nucleotide variant | NM_032230.3(METTL25):c.37C>G (p.Leu13Val) | not specified [RCV004424370] | uncertain significance | 12 | 82358602 | 82358602 | Human | | name |
| 405659748 | CV3278393 | single nucleotide variant | NM_032366.5(METTL26):c.55C>T (p.Arg19Trp) | not specified [RCV004416879] | uncertain significance | 16 | 636236 | 636236 | Human | | name |
| 405659784 | CV3278405 | single nucleotide variant | NM_152559.3(METTL27):c.92T>G (p.Phe31Cys) | not specified [RCV004416891] | uncertain significance | 7 | 73842049 | 73842049 | Human | | name |
| 405659822 | CV3278418 | single nucleotide variant | NM_018396.3(METTL2B):c.53A>G (p.Gln18Arg) | not specified [RCV004416904] | uncertain significance | 7 | 128476818 | 128476818 | Human | | name |
| 405659831 | CV3278421 | single nucleotide variant | NM_018396.3(METTL2B):c.810G>A (p.Lys270=) | not specified [RCV004416907] | likely benign | 7 | 128498036 | 128498036 | Human | | name |
| 407503285 | CV3450092 | single nucleotide variant | NM_024109.4(METTL22):c.58G>A (p.Val20Met) | not specified [RCV004645424] | uncertain significance | 16 | 8625723 | 8625723 | Human | | name |
| 407518266 | CV3450113 | single nucleotide variant | NM_152559.3(METTL27):c.83A>G (p.Lys28Arg) | not specified [RCV004628810] | uncertain significance | 7 | 73842058 | 73842058 | Human | | name |
| 407503336 | CV3450115 | single nucleotide variant | NM_018396.3(METTL2B):c.40G>A (p.Ala14Thr) | not specified [RCV004645440] | uncertain significance | 7 | 128476805 | 128476805 | Human | | name |
| 407503339 | CV3450116 | single nucleotide variant | NM_018396.3(METTL2B):c.41C>A (p.Ala14Asp) | not specified [RCV004645441] | uncertain significance | 7 | 128476806 | 128476806 | Human | | name |
| 596947851 | CV3547437 | single nucleotide variant | NM_152559.3(METTL27):c.513G>A (p.Ser171=) | not provided [RCV004811741] | likely benign | 7 | 73834968 | 73834968 | Human | | name |
| 597635034 | CV3553524 | single nucleotide variant | NM_024109.4(METTL22):c.52G>A (p.Asp18Asn) | not specified [RCV004824268] | uncertain significance | 16 | 8625717 | 8625717 | Human | | name |
| 597679152 | CV3553526 | single nucleotide variant | NM_024109.4(METTL22):c.29T>C (p.Met10Thr) | not specified [RCV004830637] | uncertain significance | 16 | 8625694 | 8625694 | Human | | name |
| 597679284 | CV3553549 | single nucleotide variant | NM_032230.3(METTL25):c.32C>G (p.Pro11Arg) | not specified [RCV004830651] | uncertain significance | 12 | 82358597 | 82358597 | Human | | name |
| 597632926 | CV3553565 | single nucleotide variant | NM_152559.3(METTL27):c.618C>T (p.Thr206=) | not specified [RCV004830662] | likely benign | 7 | 73834863 | 73834863 | Human | | name |
| 597632870 | CV3553577 | single nucleotide variant | NM_018396.3(METTL2B):c.77G>A (p.Ser26Asn) | not specified [RCV004830672] | uncertain significance | 7 | 128476842 | 128476842 | Human | | name |
| 598128312 | CV3887513 | single nucleotide variant | NM_152559.3(METTL27):c.330C>A (p.Gly110=) | not provided [RCV005243686] | likely benign | 7 | 73840472 | 73840472 | Human | | name |
| 598226197 | CV3982120 | single nucleotide variant | NM_032230.3(METTL25):c.46C>G (p.Leu16Val) | not specified [RCV005380582] | uncertain significance | 12 | 82358611 | 82358611 | Human | | name |
| 598226205 | CV3982121 | single nucleotide variant | NM_032230.3(METTL25):c.97A>G (p.Ile33Val) | not specified [RCV005380583] | uncertain significance | 12 | 82358662 | 82358662 | Human | | name |
| 598226244 | CV3982134 | single nucleotide variant | NM_181725.4(METTL2A):c.40G>A (p.Ala14Thr) | not specified [RCV005380588] | uncertain significance | 17 | 62423942 | 62423942 | Human | | name |
| 15158409 | CV699817 | single nucleotide variant | NM_018396.3(METTL2B):c.942T>C (p.Tyr314=) | not provided [RCV000947068] | benign | 7 | 128500928 | 128500928 | Human | | name |
| 155963787 | CV2198026 | single nucleotide variant | NM_032366.5(METTL26):c.296C>A (p.Pro99Gln) | not specified [RCV004077229] | uncertain significance | 16 | 635676 | 635676 | Human | | name |
| 155978689 | CV2222726 | single nucleotide variant | NM_032366.5(METTL26):c.274G>C (p.Glu92Gln) | not specified [RCV004101575] | uncertain significance | 16 | 635698 | 635698 | Human | | name |
| 156096500 | CV2253123 | single nucleotide variant | NM_032230.3(METTL25):c.125A>G (p.Tyr42Cys) | not specified [RCV004120903] | uncertain significance | 12 | 82358690 | 82358690 | Human | | name |
| 156141716 | CV2288575 | single nucleotide variant | NM_032230.3(METTL25):c.196G>A (p.Ala66Thr) | not specified [RCV004152096] | uncertain significance | 12 | 82358761 | 82358761 | Human | | name |
| 156200375 | CV2290460 | single nucleotide variant | NM_032230.3(METTL25):c.182C>G (p.Ala61Gly) | not specified [RCV004155162] | uncertain significance | 12 | 82358747 | 82358747 | Human | | name |
| 156097824 | CV2310298 | single nucleotide variant | NM_032230.3(METTL25):c.172G>A (p.Val58Met) | not specified [RCV004157040] | uncertain significance | 12 | 82358737 | 82358737 | Human | | name |
| 156167859 | CV2399086 | single nucleotide variant | NM_018396.3(METTL2B):c.263G>A (p.Gly88Glu) | not specified [RCV004246527] | uncertain significance | 7 | 128479218 | 128479218 | Human | | name |
| 401861284 | CV2755521 | single nucleotide variant | NM_032230.3(METTL25):c.181G>T (p.Ala61Ser) | not specified [RCV004340105] | uncertain significance | 12 | 82358746 | 82358746 | Human | | name |
| 401862569 | CV2762224 | single nucleotide variant | NM_018396.3(METTL2B):c.218A>G (p.Asn73Ser) | not specified [RCV004335351] | uncertain significance | 7 | 128479173 | 128479173 | Human | | name |
| 401897995 | CV2769956 | single nucleotide variant | NM_032230.3(METTL25):c.128C>T (p.Thr43Ile) | not specified [RCV004353791] | uncertain significance | 12 | 82358693 | 82358693 | Human | | name |
| 405694915 | CV3278345 | single nucleotide variant | NM_001080510.5(METTL23):c.4T>C (p.Tyr2His) | Inborn genetic diseases [RCV004424351] | uncertain significance | 17 | 76729714 | 76729714 | Human | 1 | name |
| 405694994 | CV3278360 | single nucleotide variant | NM_032230.3(METTL25):c.151G>C (p.Val51Leu) | not specified [RCV004424366] | uncertain significance | 12 | 82358716 | 82358716 | Human | | name |
| 405659707 | CV3278380 | single nucleotide variant | NM_015997.4(METTL25B):c.47A>G (p.Gln16Arg) | not specified [RCV004416866] | uncertain significance | 1 | 156729151 | 156729151 | Human | | name |
| 405659741 | CV3278391 | single nucleotide variant | NM_015997.4(METTL25B):c.83A>G (p.Tyr28Cys) | not specified [RCV004416877] | uncertain significance | 1 | 156729187 | 156729187 | Human | | name |
| 405659751 | CV3278394 | single nucleotide variant | NM_152559.3(METTL27):c.115T>C (p.Tyr39His) | not specified [RCV004416880] | uncertain significance | 7 | 73842026 | 73842026 | Human | | name |
| 405659754 | CV3278395 | single nucleotide variant | NM_152559.3(METTL27):c.166G>A (p.Asp56Asn) | not specified [RCV004416881] | uncertain significance | 7 | 73841156 | 73841156 | Human | | name |
| 405659819 | CV3278417 | single nucleotide variant | NM_018396.3(METTL2B):c.168G>T (p.Glu56Asp) | not specified [RCV004416903] | uncertain significance | 7 | 128477139 | 128477139 | Human | | name |
| 405694858 | CV3282188 | single nucleotide variant | NM_024109.4(METTL22):c.110G>A (p.Arg37Gln) | not specified [RCV004424340] | uncertain significance | 16 | 8625775 | 8625775 | Human | | name |
| 407503283 | CV3450091 | single nucleotide variant | NM_024109.4(METTL22):c.200G>T (p.Gly67Val) | not specified [RCV004645423] | uncertain significance | 16 | 8628796 | 8628796 | Human | | name |
| 407503335 | CV3450112 | single nucleotide variant | NM_152559.3(METTL27):c.204T>G (p.Ser68Arg) | not specified [RCV004645439] | uncertain significance | 7 | 73841118 | 73841118 | Human | | name |
| 407503346 | CV3450118 | single nucleotide variant | NM_018396.3(METTL2B):c.268T>A (p.Phe90Ile) | not specified [RCV004645443] | uncertain significance | 7 | 128479223 | 128479223 | Human | | name |
| 597679119 | CV3553520 | single nucleotide variant | NM_024109.4(METTL22):c.109C>T (p.Arg37Trp) | not specified [RCV004830633] | uncertain significance | 16 | 8625774 | 8625774 | Human | | name |
| 597679181 | CV3553529 | single nucleotide variant | NM_024109.4(METTL22):c.223A>G (p.Lys75Glu) | not specified [RCV004830640] | likely benign | 16 | 8628819 | 8628819 | Human | | name |
| 597679254 | CV3553544 | single nucleotide variant | NM_032230.3(METTL25):c.1573C>T (p.Leu525=) | not specified [RCV004830648] | likely benign | 12 | 82476644 | 82476644 | Human | | name |
| 597632964 | CV3553556 | single nucleotide variant | NM_015997.4(METTL25B):c.91A>G (p.Ile31Val) | not specified [RCV004830655] | uncertain significance | 1 | 156729195 | 156729195 | Human | | name |
| 597632931 | CV3553564 | single nucleotide variant | NM_152559.3(METTL27):c.289G>C (p.Asp97His) | not specified [RCV004830661] | uncertain significance | 7 | 73840513 | 73840513 | Human | | name |
| 597632915 | CV3553567 | single nucleotide variant | NM_152559.3(METTL27):c.256C>T (p.Arg86Trp) | not specified [RCV004830664] | uncertain significance | 7 | 73840546 | 73840546 | Human | | name |
| 597632905 | CV3553570 | single nucleotide variant | NM_181725.4(METTL2A):c.189C>G (p.Cys63Trp) | not specified [RCV004830666] | uncertain significance | 17 | 62424297 | 62424297 | Human | | name |
| 597632899 | CV3553571 | single nucleotide variant | NM_181725.4(METTL2A):c.190C>A (p.Gln64Lys) | not specified [RCV004830667] | uncertain significance | 17 | 62424298 | 62424298 | Human | | name |
| 597632886 | CV3553573 | single nucleotide variant | NM_181725.4(METTL2A):c.236A>C (p.Asn79Thr) | not specified [RCV004830669] | uncertain significance | 17 | 62426332 | 62426332 | Human | | name |
| 598251969 | CV3982098 | single nucleotide variant | NM_024109.4(METTL22):c.232C>T (p.Pro78Ser) | not specified [RCV005366925] | uncertain significance | 16 | 8628828 | 8628828 | Human | | name |
| 598252229 | CV3982122 | single nucleotide variant | NM_032230.3(METTL25):c.115G>T (p.Val39Leu) | not specified [RCV005366936] | uncertain significance | 12 | 82358680 | 82358680 | Human | | name |
| 598226214 | CV3982124 | single nucleotide variant | NM_015997.4(METTL25B):c.76G>T (p.Ala26Ser) | not specified [RCV005380584] | uncertain significance | 1 | 156729180 | 156729180 | Human | | name |
| 8689407 | CV97495 | single nucleotide variant | NM_032230.3(METTL25):c.208G>A (p.Glu70Lys) | not provided [RCV000122574] | uncertain significance | 12 | 82358773 | 82358773 | Human | | name |
| 156115945 | CV2209039 | single nucleotide variant | NM_024109.4(METTL22):c.833A>G (p.Lys278Arg) | not specified [RCV004093285] | uncertain significance | 16 | 8642133 | 8642133 | Human | | name |
| 156116665 | CV2209105 | single nucleotide variant | NM_032230.3(METTL25):c.841T>A (p.Phe281Ile) | not specified [RCV004093332] | uncertain significance | 12 | 82399104 | 82399104 | Human | | name |
| 155978198 | CV2214986 | single nucleotide variant | NM_181725.4(METTL2A):c.794C>T (p.Ala265Val) | not specified [RCV004084763] | uncertain significance | 17 | 62440741 | 62440741 | Human | | name |
| 156125604 | CV2223583 | single nucleotide variant | NM_032230.3(METTL25):c.949C>A (p.Leu317Ile) | not specified [RCV004091937] | uncertain significance | 12 | 82399212 | 82399212 | Human | | name |
| 155978059 | CV2246981 | single nucleotide variant | NM_032366.5(METTL26):c.300G>C (p.Gln100His) | not specified [RCV004112765] | uncertain significance | 16 | 635672 | 635672 | Human | | name |
| 155985227 | CV2247843 | single nucleotide variant | NM_018396.3(METTL2B):c.943G>A (p.Val315Met) | not specified [RCV004121304] | uncertain significance | 7 | 128500929 | 128500929 | Human | | name |
| 156031613 | CV2249836 | single nucleotide variant | NM_032230.3(METTL25):c.973C>T (p.Pro325Ser) | not specified [RCV004122583] | uncertain significance | 12 | 82399236 | 82399236 | Human | | name |
| 156171732 | CV2293199 | single nucleotide variant | NM_024109.4(METTL22):c.745C>T (p.Leu249Phe) | not specified [RCV004150710] | uncertain significance | 16 | 8639135 | 8639135 | Human | | name |
| 155944011 | CV2294952 | single nucleotide variant | NM_032230.3(METTL25):c.425G>A (p.Gly142Asp) | not specified [RCV004156100] | likely benign | 12 | 82389816 | 82389816 | Human | | name |
| 156084266 | CV2299051 | single nucleotide variant | NM_018396.3(METTL2B):c.840G>C (p.Arg280Ser) | not specified [RCV004158568] | uncertain significance | 7 | 128498066 | 128498066 | Human | | name |
| 156208844 | CV2304376 | single nucleotide variant | NM_024109.4(METTL22):c.685A>G (p.Thr229Ala) | not specified [RCV004164484] | uncertain significance | 16 | 8635297 | 8635297 | Human | | name |
| 156282178 | CV2318560 | single nucleotide variant | NM_032230.3(METTL25):c.445G>C (p.Glu149Gln) | not specified [RCV004173466] | uncertain significance | 12 | 82389836 | 82389836 | Human | | name |
| 156286609 | CV2327252 | single nucleotide variant | NM_032230.3(METTL25):c.598G>T (p.Val200Phe) | not specified [RCV004174703] | uncertain significance | 12 | 82398861 | 82398861 | Human | | name |
| 156287599 | CV2336169 | single nucleotide variant | NM_024109.4(METTL22):c.904G>A (p.Glu302Lys) | not specified [RCV004189761] | uncertain significance | 16 | 8642204 | 8642204 | Human | | name |
| 155969263 | CV2337935 | single nucleotide variant | NM_018396.3(METTL2B):c.695G>A (p.Arg232Gln) | not specified [RCV004183940] | uncertain significance | 7 | 128493829 | 128493829 | Human | | name |
| 156336966 | CV2342985 | single nucleotide variant | NM_018396.3(METTL2B):c.883C>T (p.Arg295Cys) | not specified [RCV004192589] | uncertain significance | 7 | 128498109 | 128498109 | Human | | name |
| 156344258 | CV2349475 | single nucleotide variant | NM_032230.3(METTL25):c.347C>T (p.Ser116Phe) | not specified [RCV004201446] | uncertain significance | 12 | 82386890 | 82386890 | Human | | name |
| 156117506 | CV2349476 | single nucleotide variant | NM_032230.3(METTL25):c.353A>T (p.Gln118Leu) | not specified [RCV004201447] | uncertain significance | 12 | 82386896 | 82386896 | Human | | name |
| 156247722 | CV2357079 | single nucleotide variant | NM_024109.4(METTL22):c.380G>C (p.Arg127Thr) | not specified [RCV004206879] | uncertain significance | 16 | 8628976 | 8628976 | Human | | name |
| 156053139 | CV2360965 | single nucleotide variant | NM_018396.3(METTL2B):c.571G>A (p.Val191Met) | not specified [RCV004216164] | uncertain significance | 7 | 128480659 | 128480659 | Human | | name |
| 156341947 | CV2368484 | single nucleotide variant | NM_181725.4(METTL2A):c.880G>A (p.Gly294Ser) | not specified [RCV004221285] | uncertain significance | 17 | 62444907 | 62444907 | Human | | name |
| 156384508 | CV2371466 | single nucleotide variant | NM_024109.4(METTL22):c.463G>A (p.Asp155Asn) | not specified [RCV004216724] | uncertain significance | 16 | 8629059 | 8629059 | Human | | name |
| 155927996 | CV2391624 | single nucleotide variant | NM_181725.4(METTL2A):c.796A>T (p.Ile266Phe) | not specified [RCV004241788] | uncertain significance | 17 | 62440743 | 62440743 | Human | | name |
| 156224024 | CV2395067 | single nucleotide variant | NM_018396.3(METTL2B):c.847A>G (p.Lys283Glu) | not specified [RCV004236752] | uncertain significance | 7 | 128498073 | 128498073 | Human | | name |
| 155996718 | CV2398595 | single nucleotide variant | NM_024109.4(METTL22):c.806T>C (p.Leu269Pro) | not specified [RCV004237906] | uncertain significance | 16 | 8641164 | 8641164 | Human | | name |
| 329369527 | CV2424848 | single nucleotide variant | NM_015997.4(METTL25B):c.133T>C (p.Trp45Arg) | not specified [RCV004248733] | uncertain significance | 1 | 156732012 | 156732012 | Human | | name |
| 329357673 | CV2427798 | single nucleotide variant | NM_181725.4(METTL2A):c.905G>A (p.Arg302Gln) | not specified [RCV004252576] | uncertain significance | 17 | 62444932 | 62444932 | Human | | name |
| 329373066 | CV2434093 | single nucleotide variant | NM_024109.4(METTL22):c.319A>C (p.Thr107Pro) | not specified [RCV004249992] | uncertain significance | 16 | 8628915 | 8628915 | Human | | name |
| 329397080 | CV2456580 | single nucleotide variant | NM_015997.4(METTL25B):c.136G>C (p.Asp46His) | not specified [RCV004277779] | uncertain significance | 1 | 156732015 | 156732015 | Human | | name |
| 329362523 | CV2463965 | single nucleotide variant | NM_152559.3(METTL27):c.383C>G (p.Pro128Arg) | not specified [RCV004273684] | uncertain significance | 7 | 73840419 | 73840419 | Human | | name |
| 329380957 | CV2464411 | single nucleotide variant | NM_018396.3(METTL2B):c.665T>C (p.Val222Ala) | not specified [RCV004276342] | uncertain significance | 7 | 128488157 | 128488157 | Human | | name |
| 329382523 | CV2465242 | single nucleotide variant | NM_024109.4(METTL22):c.824C>T (p.Thr275Ile) | not specified [RCV004281044] | uncertain significance | 16 | 8641182 | 8641182 | Human | | name |
| 401739378 | CV2673276 | single nucleotide variant | NM_018396.3(METTL2B):c.449A>G (p.His150Arg) | not specified [RCV004286077] | uncertain significance | 7 | 128479404 | 128479404 | Human | | name |
| 401753837 | CV2685075 | single nucleotide variant | NM_024109.4(METTL22):c.429G>T (p.Lys143Asn) | not specified [RCV004289652] | uncertain significance | 16 | 8629025 | 8629025 | Human | | name |
| 401759598 | CV2687383 | single nucleotide variant | NM_024109.4(METTL22):c.683G>A (p.Arg228Gln) | not specified [RCV004300635] | likely benign | 16 | 8635295 | 8635295 | Human | | name |
| 401774878 | CV2688319 | single nucleotide variant | NM_024109.4(METTL22):c.794A>G (p.Glu265Gly) | not specified [RCV004299325] | uncertain significance | 16 | 8641152 | 8641152 | Human | | name |
| 401728636 | CV2693693 | single nucleotide variant | NM_024109.4(METTL22):c.332T>C (p.Val111Ala) | not specified [RCV004298023] | likely benign | 16 | 8628928 | 8628928 | Human | | name |
| 401749953 | CV2695888 | single nucleotide variant | NM_032230.3(METTL25):c.493C>A (p.Leu165Met) | not specified [RCV004308166] | uncertain significance | 12 | 82389884 | 82389884 | Human | | name |
| 401749885 | CV2704771 | single nucleotide variant | NM_024109.4(METTL22):c.809A>C (p.Lys270Thr) | not specified [RCV004307366] | uncertain significance | 16 | 8641167 | 8641167 | Human | | name |
| 401732945 | CV2705100 | single nucleotide variant | NM_018396.3(METTL2B):c.917G>A (p.Gly306Asp) | not specified [RCV004310005] | uncertain significance | 7 | 128500903 | 128500903 | Human | | name |
| 401782900 | CV2707580 | single nucleotide variant | NM_024109.4(METTL22):c.304G>A (p.Ala102Thr) | not specified [RCV004306524] | uncertain significance | 16 | 8628900 | 8628900 | Human | | name |
| 401739527 | CV2708498 | single nucleotide variant | NM_181725.4(METTL2A):c.631T>G (p.Cys211Gly) | not specified [RCV004313587] | uncertain significance | 17 | 62435254 | 62435254 | Human | | name |
| 401767567 | CV2727206 | single nucleotide variant | NM_181725.4(METTL2A):c.995C>T (p.Thr332Met) | not specified [RCV004327340] | uncertain significance | 17 | 62448587 | 62448587 | Human | | name |
| 401873301 | CV2761417 | single nucleotide variant | NM_024109.4(METTL22):c.599G>A (p.Arg200Gln) | not specified [RCV004334596] | likely benign | 16 | 8635211 | 8635211 | Human | | name |
| 401884422 | CV2762882 | single nucleotide variant | NM_181725.4(METTL2A):c.407T>C (p.Ile136Thr) | not provided [RCV004703316]|not specified [RCV004340425] | likely benign | 17 | 62426503 | 62426503 | Human | | name |
| 401877189 | CV2764534 | single nucleotide variant | NM_024109.4(METTL22):c.647C>T (p.Thr216Met) | not specified [RCV004339089] | uncertain significance | 16 | 8635259 | 8635259 | Human | | name |
| 401862223 | CV2766624 | single nucleotide variant | NM_181725.4(METTL2A):c.692C>T (p.Ser231Phe) | not specified [RCV004347234] | uncertain significance | 17 | 62440639 | 62440639 | Human | | name |
| 401897620 | CV2776481 | single nucleotide variant | NM_152559.3(METTL27):c.542A>C (p.Glu181Ala) | not specified [RCV004355589] | uncertain significance | 7 | 73834939 | 73834939 | Human | | name |
| 401890919 | CV2778513 | single nucleotide variant | NM_181725.4(METTL2A):c.694C>T (p.Arg232Trp) | not specified [RCV004344172] | uncertain significance | 17 | 62440641 | 62440641 | Human | | name |
| 401896661 | CV2782294 | single nucleotide variant | NM_181725.4(METTL2A):c.968A>C (p.Tyr323Ser) | not specified [RCV004359255] | uncertain significance | 17 | 62447752 | 62447752 | Human | | name |
| 401866968 | CV2792571 | single nucleotide variant | NM_032230.3(METTL25):c.614C>T (p.Ser205Phe) | not specified [RCV004363603] | uncertain significance | 12 | 82398877 | 82398877 | Human | | name |
| 401908777 | CV2825761 | single nucleotide variant | NM_152559.3(METTL27):c.686C>T (p.Pro229Leu) | not provided [RCV003423614] | likely benign | 7 | 73834795 | 73834795 | Human | | name |
| 405694866 | CV3278336 | single nucleotide variant | NM_024109.4(METTL22):c.329A>T (p.Glu110Val) | not specified [RCV004424342] | uncertain significance | 16 | 8628925 | 8628925 | Human | | name |
| 405694872 | CV3278337 | single nucleotide variant | NM_024109.4(METTL22):c.439A>G (p.Met147Val) | not specified [RCV004424343] | uncertain significance | 16 | 8629035 | 8629035 | Human | | name |
| 405694878 | CV3278338 | single nucleotide variant | NM_024109.4(METTL22):c.492C>G (p.Ser164Arg) | not specified [RCV004424344] | uncertain significance | 16 | 8629088 | 8629088 | Human | | name |
| 405694884 | CV3278339 | single nucleotide variant | NM_024109.4(METTL22):c.568G>A (p.Ala190Thr) | not specified [RCV004424345] | uncertain significance | 16 | 8635180 | 8635180 | Human | | name |
| 405694889 | CV3278340 | single nucleotide variant | NM_024109.4(METTL22):c.734G>A (p.Arg245Gln) | not specified [RCV004424346] | uncertain significance | 16 | 8639124 | 8639124 | Human | | name |
| 405694892 | CV3278341 | single nucleotide variant | NM_024109.4(METTL22):c.757C>G (p.Leu253Val) | not specified [RCV004424347] | uncertain significance | 16 | 8639147 | 8639147 | Human | | name |
| 405695020 | CV3278365 | single nucleotide variant | NM_032230.3(METTL25):c.518A>G (p.Tyr173Cys) | not specified [RCV004424371] | likely benign | 12 | 82389909 | 82389909 | Human | | name |
| 405695024 | CV3278366 | single nucleotide variant | NM_032230.3(METTL25):c.550G>A (p.Gly184Ser) | not specified [RCV004424372] | uncertain significance | 12 | 82398813 | 82398813 | Human | | name |
| 405695029 | CV3278367 | single nucleotide variant | NM_032230.3(METTL25):c.587A>G (p.Tyr196Cys) | not specified [RCV004424373] | uncertain significance | 12 | 82398850 | 82398850 | Human | | name |
| 405659757 | CV3278396 | single nucleotide variant | NM_152559.3(METTL27):c.325C>T (p.Pro109Ser) | not specified [RCV004416882] | uncertain significance | 7 | 73840477 | 73840477 | Human | | name |
| 405659760 | CV3278397 | single nucleotide variant | NM_152559.3(METTL27):c.340C>T (p.Arg114Cys) | not specified [RCV004416883] | uncertain significance | 7 | 73840462 | 73840462 | Human | | name |
| 405659763 | CV3278398 | single nucleotide variant | NM_152559.3(METTL27):c.400G>A (p.Ala134Thr) | not specified [RCV004416884] | uncertain significance | 7 | 73840109 | 73840109 | Human | | name |
| 405659766 | CV3278399 | single nucleotide variant | NM_152559.3(METTL27):c.401C>T (p.Ala134Val) | not specified [RCV004416885] | uncertain significance | 7 | 73840108 | 73840108 | Human | | name |
| 405659770 | CV3278400 | single nucleotide variant | NM_152559.3(METTL27):c.464A>G (p.His155Arg) | not specified [RCV004416886] | likely benign | 7 | 73840045 | 73840045 | Human | | name |
| 405659773 | CV3278401 | single nucleotide variant | NM_152559.3(METTL27):c.475C>A (p.Pro159Thr) | not specified [RCV004416887] | uncertain significance | 7 | 73840034 | 73840034 | Human | | name |
| 405659776 | CV3278402 | single nucleotide variant | NM_152559.3(METTL27):c.598C>A (p.Pro200Thr) | not specified [RCV004416888] | uncertain significance | 7 | 73834883 | 73834883 | Human | | name |
| 405659779 | CV3278403 | single nucleotide variant | NM_152559.3(METTL27):c.619G>A (p.Ala207Thr) | not specified [RCV004416889] | uncertain significance | 7 | 73834862 | 73834862 | Human | | name |
| 405659781 | CV3278404 | single nucleotide variant | NM_152559.3(METTL27):c.706G>A (p.Glu236Lys) | not specified [RCV004416890] | uncertain significance | 7 | 73834775 | 73834775 | Human | | name |
| 405659788 | CV3278407 | single nucleotide variant | NM_181725.4(METTL2A):c.383A>G (p.Asn128Ser) | not specified [RCV004416893] | likely benign | 17 | 62426479 | 62426479 | Human | | name |
| 405659793 | CV3278408 | single nucleotide variant | NM_181725.4(METTL2A):c.477G>C (p.Glu159Asp) | not specified [RCV004416894] | uncertain significance | 17 | 62426573 | 62426573 | Human | | name |
| 405659796 | CV3278409 | single nucleotide variant | NM_181725.4(METTL2A):c.614C>A (p.Pro205Gln) | not specified [RCV004416895] | uncertain significance | 17 | 62435237 | 62435237 | Human | | name |
| 405659799 | CV3278410 | single nucleotide variant | NM_181725.4(METTL2A):c.698G>C (p.Cys233Ser) | not specified [RCV004416896] | uncertain significance | 17 | 62440645 | 62440645 | Human | | name |
| 405659808 | CV3278413 | single nucleotide variant | NM_181725.4(METTL2A):c.904C>T (p.Arg302Trp) | not specified [RCV004416899] | uncertain significance | 17 | 62444931 | 62444931 | Human | | name |
| 405659811 | CV3278414 | single nucleotide variant | NM_181725.4(METTL2A):c.912A>T (p.Lys304Asn) | not specified [RCV004416900] | uncertain significance | 17 | 62444939 | 62444939 | Human | | name |
| 405659825 | CV3278419 | single nucleotide variant | NM_018396.3(METTL2B):c.602C>T (p.Thr201Met) | not specified [RCV004416905] | uncertain significance | 7 | 128480690 | 128480690 | Human | | name |
| 407425270 | CV3409421 | single nucleotide variant | NM_001080510.5(METTL23):c.175C>T (p.Leu59=) | not provided [RCV004585352] | likely benign | 17 | 76733068 | 76733068 | Human | | name |
| 407503273 | CV3450087 | single nucleotide variant | NM_024109.4(METTL22):c.370G>A (p.Val124Met) | not specified [RCV004645420] | uncertain significance | 16 | 8628966 | 8628966 | Human | | name |
| 407503280 | CV3450090 | single nucleotide variant | NM_024109.4(METTL22):c.781G>A (p.Val261Ile) | not specified [RCV004645422] | uncertain significance | 16 | 8641139 | 8641139 | Human | | name |
| 407503288 | CV3450093 | single nucleotide variant | NM_024109.4(METTL22):c.616G>C (p.Gly206Arg) | not specified [RCV004645425] | uncertain significance | 16 | 8635228 | 8635228 | Human | | name |
| 407503302 | CV3450097 | single nucleotide variant | NM_032230.3(METTL25):c.940C>T (p.Leu314Phe) | not specified [RCV004645429] | uncertain significance | 12 | 82399203 | 82399203 | Human | | name |
| 407518254 | CV3450102 | single nucleotide variant | NM_032230.3(METTL25):c.414C>G (p.Asn138Lys) | not specified [RCV004628806] | likely benign | 12 | 82386957 | 82386957 | Human | | name |
| 407503315 | CV3450103 | single nucleotide variant | NM_032230.3(METTL25):c.434A>G (p.Gln145Arg) | not specified [RCV004645433] | uncertain significance | 12 | 82389825 | 82389825 | Human | | name |
| 407518257 | CV3450104 | single nucleotide variant | NM_015997.4(METTL25B):c.1293C>T (p.Tyr431=) | not specified [RCV004628807] | likely benign | 1 | 156735896 | 156735896 | Human | | name |
| 407518260 | CV3450109 | single nucleotide variant | NM_015997.4(METTL25B):c.281C>T (p.Thr94Met) | not specified [RCV004628808] | uncertain significance | 1 | 156732325 | 156732325 | Human | | name |
| 407503331 | CV3450110 | single nucleotide variant | NM_152559.3(METTL27):c.328G>A (p.Gly110Ser) | not specified [RCV004645438] | uncertain significance | 7 | 73840474 | 73840474 | Human | | name |
| 407518263 | CV3450111 | single nucleotide variant | NM_152559.3(METTL27):c.607C>T (p.Arg203Cys) | not specified [RCV004628809] | uncertain significance | 7 | 73834874 | 73834874 | Human | | name |
| 407518269 | CV3450114 | single nucleotide variant | NM_181725.4(METTL2A):c.778A>G (p.Ile260Val) | not specified [RCV004628811] | uncertain significance | 17 | 62440725 | 62440725 | Human | | name |
| 407503343 | CV3450117 | single nucleotide variant | NM_018396.3(METTL2B):c.920A>G (p.Gln307Arg) | not specified [RCV004645442] | uncertain significance | 7 | 128500906 | 128500906 | Human | | name |
| 597679080 | CV3553516 | single nucleotide variant | NM_024109.4(METTL22):c.614G>A (p.Arg205Gln) | not specified [RCV004830629] | likely benign | 16 | 8635226 | 8635226 | Human | | name |
| 597679089 | CV3553517 | single nucleotide variant | NM_024109.4(METTL22):c.515A>G (p.Glu172Gly) | not specified [RCV004830630] | uncertain significance | 16 | 8635039 | 8635039 | Human | | name |
| 597679101 | CV3553518 | single nucleotide variant | NM_024109.4(METTL22):c.328G>A (p.Glu110Lys) | not specified [RCV004830631] | uncertain significance | 16 | 8628924 | 8628924 | Human | | name |
| 597679108 | CV3553519 | single nucleotide variant | NM_024109.4(METTL22):c.998C>T (p.Ser333Leu) | not specified [RCV004830632] | uncertain significance | 16 | 8642553 | 8642553 | Human | | name |
| 597679129 | CV3553521 | single nucleotide variant | NM_024109.4(METTL22):c.866C>A (p.Ser289Tyr) | not specified [RCV004830634] | uncertain significance | 16 | 8642166 | 8642166 | Human | | name |
| 597679137 | CV3553522 | single nucleotide variant | NM_024109.4(METTL22):c.877G>A (p.Asp293Asn) | not specified [RCV004830635] | likely benign | 16 | 8642177 | 8642177 | Human | | name |
| 597635039 | CV3553525 | single nucleotide variant | NM_024109.4(METTL22):c.620G>A (p.Cys207Tyr) | not specified [RCV004824269] | uncertain significance | 16 | 8635232 | 8635232 | Human | | name |
| 597679162 | CV3553527 | single nucleotide variant | NM_024109.4(METTL22):c.454G>A (p.Glu152Lys) | not specified [RCV004830638] | uncertain significance | 16 | 8629050 | 8629050 | Human | | name |
| 597679191 | CV3553530 | single nucleotide variant | NM_024109.4(METTL22):c.382C>T (p.Pro128Ser) | not specified [RCV004830641] | uncertain significance | 16 | 8628978 | 8628978 | Human | | name |
| 597635044 | CV3553532 | single nucleotide variant | NM_024109.4(METTL22):c.937G>A (p.Val313Met) | not specified [RCV004824270] | uncertain significance | 16 | 8642492 | 8642492 | Human | | name |
| 597635065 | CV3553541 | single nucleotide variant | NM_032230.3(METTL25):c.311G>A (p.Ser104Asn) | not specified [RCV004824274] | likely benign | 12 | 82386854 | 82386854 | Human | | name |
| 597635069 | CV3553542 | single nucleotide variant | NM_032230.3(METTL25):c.899C>T (p.Pro300Leu) | not specified [RCV004824275] | uncertain significance | 12 | 82399162 | 82399162 | Human | | name |
| 597635075 | CV3553546 | single nucleotide variant | NM_032230.3(METTL25):c.544G>A (p.Gly182Ser) | not specified [RCV004824276] | uncertain significance | 12 | 82398807 | 82398807 | Human | | name |
| 597679275 | CV3553547 | single nucleotide variant | NM_032230.3(METTL25):c.484A>T (p.Met162Leu) | not specified [RCV004830650] | uncertain significance | 12 | 82389875 | 82389875 | Human | | name |
| 597635085 | CV3553550 | single nucleotide variant | NM_015997.4(METTL25B):c.1125T>C (p.Tyr375=) | not specified [RCV004824278] | likely benign | 1 | 156735728 | 156735728 | Human | | name |
| 597632974 | CV3553553 | single nucleotide variant | NM_015997.4(METTL25B):c.1276C>T (p.Leu426=) | not specified [RCV004830653] | likely benign | 1 | 156735879 | 156735879 | Human | | name |
| 597632970 | CV3553555 | single nucleotide variant | NM_015997.4(METTL25B):c.1131G>A (p.Gln377=) | not specified [RCV004830654] | likely benign | 1 | 156735734 | 156735734 | Human | | name |
| 597632959 | CV3553557 | single nucleotide variant | NM_015997.4(METTL25B):c.129C>A (p.Asn43Lys) | not specified [RCV004830656] | uncertain significance | 1 | 156732008 | 156732008 | Human | | name |
| 597632953 | CV3553558 | single nucleotide variant | NM_015997.4(METTL25B):c.1266G>A (p.Thr422=) | not specified [RCV004830657] | likely benign | 1 | 156735869 | 156735869 | Human | | name |
| 597632920 | CV3553566 | single nucleotide variant | NM_152559.3(METTL27):c.386A>C (p.Glu129Ala) | not specified [RCV004830663] | uncertain significance | 7 | 73840416 | 73840416 | Human | | name |
| 597635119 | CV3553574 | single nucleotide variant | NM_181725.4(METTL2A):c.826A>G (p.Asn276Asp) | not specified [RCV004824284] | uncertain significance | 17 | 62444853 | 62444853 | Human | | name |
| 597632882 | CV3553575 | single nucleotide variant | NM_181725.4(METTL2A):c.694C>G (p.Arg232Gly) | not specified [RCV004830670] | uncertain significance | 17 | 62440641 | 62440641 | Human | | name |
| 597632860 | CV3553579 | single nucleotide variant | NM_018396.3(METTL2B):c.820G>C (p.Ala274Pro) | not specified [RCV004830674] | uncertain significance | 7 | 128498046 | 128498046 | Human | | name |
| 598226471 | CV3982094 | single nucleotide variant | NM_024109.4(METTL22):c.961G>A (p.Ala321Thr) | not specified [RCV005380569] | uncertain significance | 16 | 8642516 | 8642516 | Human | | name |
| 598226465 | CV3982095 | single nucleotide variant | NM_024109.4(METTL22):c.643G>A (p.Gly215Ser) | not specified [RCV005380570] | uncertain significance | 16 | 8635255 | 8635255 | Human | | name |
| 598251958 | CV3982096 | single nucleotide variant | NM_024109.4(METTL22):c.597C>A (p.Phe199Leu) | not specified [RCV005366923] | uncertain significance | 16 | 8635209 | 8635209 | Human | | name |
| 598251974 | CV3982099 | single nucleotide variant | NM_024109.4(METTL22):c.778A>G (p.Ile260Val) | not specified [RCV005366926] | likely benign | 16 | 8641136 | 8641136 | Human | | name |
| 598252244 | CV3982110 | single nucleotide variant | NM_032230.3(METTL25):c.707A>G (p.Asn236Ser) | not specified [RCV005366933] | likely benign | 12 | 82398970 | 82398970 | Human | | name |
| 598226431 | CV3982111 | single nucleotide variant | NM_032230.3(METTL25):c.304T>G (p.Leu102Val) | not specified [RCV005380575] | uncertain significance | 12 | 82386847 | 82386847 | Human | | name |
| 598252239 | CV3982113 | single nucleotide variant | NM_032230.3(METTL25):c.904C>A (p.Gln302Lys) | not specified [RCV005366934] | uncertain significance | 12 | 82399167 | 82399167 | Human | | name |
| 598252224 | CV3982123 | single nucleotide variant | NM_015997.4(METTL25B):c.1224C>A (p.Ala408=) | not specified [RCV005366937] | likely benign | 1 | 156735827 | 156735827 | Human | | name |
| 598252213 | CV3982128 | single nucleotide variant | NM_152559.3(METTL27):c.595T>C (p.Trp199Arg) | not specified [RCV005366939] | uncertain significance | 7 | 73834886 | 73834886 | Human | | name |
| 598252198 | CV3982132 | single nucleotide variant | NM_181725.4(METTL2A):c.624T>G (p.Phe208Leu) | not specified [RCV005366942] | uncertain significance | 17 | 62435247 | 62435247 | Human | | name |
| 598252193 | CV3982133 | single nucleotide variant | NM_181725.4(METTL2A):c.548G>A (p.Arg183Gln) | not specified [RCV005366943] | uncertain significance | 17 | 62426644 | 62426644 | Human | | name |
| 598226259 | CV3982136 | single nucleotide variant | NM_018396.3(METTL2B):c.434C>T (p.Ser145Leu) | not specified [RCV005380590] | uncertain significance | 7 | 128479389 | 128479389 | Human | | name |
| 598252187 | CV3982137 | single nucleotide variant | NM_018396.3(METTL2B):c.701T>A (p.Phe234Tyr) | not specified [RCV005366944] | uncertain significance | 7 | 128493835 | 128493835 | Human | | name |
| 598226266 | CV3982138 | single nucleotide variant | NM_018396.3(METTL2B):c.758G>A (p.Ser253Asn) | not specified [RCV005380591] | uncertain significance | 7 | 128493892 | 128493892 | Human | | name |
| 13530399 | CV512323 | single nucleotide variant | NM_001080510.5(METTL23):c.20C>T (p.Ala7Val) | Inborn genetic diseases [RCV000622480]|Intellectual disability, autosomal recessive 44 [RCV001333721]|not provided [RCV002253542] | uncertain significance | 17 | 76729730 | 76729730 | Human | 2 | name |
| 15200511 | CV756156 | single nucleotide variant | NM_001080510.5(METTL23):c.255T>G (p.Ser85=) | not provided [RCV000912867]|not specified [RCV001818843] | benign|likely benign | 17 | 76733148 | 76733148 | Human | | name |
| 8626333 | CV81477 | single nucleotide variant | NM_018396.2(METTL2B):c.697T>G (p.Cys233Gly) | Malignant melanoma [RCV000061555] | not provided | 7 | 128493831 | 128493831 | Human | | name |
| 150520570 | CV1289830 | deletion | NM_001080510.5(METTL23):c.238del (p.Thr80fs) | not provided [RCV001730200] | likely pathogenic | 17 | 76733130 | 76733130 | Human | | name |
| 150542859 | CV1314983 | deletion | NM_001080510.5(METTL23):c.126del (p.Lys42fs) | Intellectual disability, autosomal recessive 44 [RCV001782436] | likely pathogenic | 17 | 76733017 | 76733017 | Human | 1 | name |
| 156400159 | CV2199010 | single nucleotide variant | NM_032230.3(METTL25):c.1294A>G (p.Lys432Glu) | not specified [RCV004080418] | uncertain significance | 12 | 82430907 | 82430907 | Human | | name |
| 156399640 | CV2202124 | single nucleotide variant | NM_032230.3(METTL25):c.1667C>T (p.Pro556Leu) | not specified [RCV004078078] | uncertain significance | 12 | 82477300 | 82477300 | Human | | name |
| 156118602 | CV2219187 | single nucleotide variant | NM_032230.3(METTL25):c.1528T>C (p.Tyr510His) | not specified [RCV004093458] | uncertain significance | 12 | 82456776 | 82456776 | Human | | name |
| 155924525 | CV2220334 | single nucleotide variant | NM_181725.4(METTL2A):c.1133G>T (p.Ser378Ile) | not specified [RCV004095754] | uncertain significance | 17 | 62448725 | 62448725 | Human | | name |
| 155939284 | CV2225417 | single nucleotide variant | NM_032230.3(METTL25):c.1706A>C (p.Tyr569Ser) | not specified [RCV004100821] | uncertain significance | 12 | 82477339 | 82477339 | Human | | name |
| 156140930 | CV2247167 | single nucleotide variant | NM_001010977.3(METTL21C):c.23C>G (p.Ala8Gly) | not specified [RCV004114691] | uncertain significance | 13 | 102694476 | 102694476 | Human | | name |
| 155997286 | CV2250538 | single nucleotide variant | NM_181725.4(METTL2A):c.1046G>C (p.Arg349Pro) | not specified [RCV004599495] | uncertain significance | 17 | 62448638 | 62448638 | Human | | name |
| 156072859 | CV2251515 | single nucleotide variant | NM_032230.3(METTL25):c.1608G>C (p.Lys536Asn) | not specified [RCV004117480] | uncertain significance | 12 | 82476679 | 82476679 | Human | | name |
| 156277368 | CV2255892 | single nucleotide variant | NM_001127395.5(METTL21A):c.11T>G (p.Val4Gly) | not specified [RCV004122045] | uncertain significance | 2 | 207624365 | 207624365 | Human | | name |
| 155918443 | CV2279227 | single nucleotide variant | NM_024109.4(METTL22):c.1088A>G (p.Glu363Gly) | not specified [RCV004139755] | uncertain significance | 16 | 8644634 | 8644634 | Human | | name |
| 155993900 | CV2281374 | single nucleotide variant | NM_024109.4(METTL22):c.1126C>T (p.Pro376Ser) | not specified [RCV004141171] | uncertain significance | 16 | 8644672 | 8644672 | Human | | name |
| 155989351 | CV2282697 | single nucleotide variant | NM_032230.3(METTL25):c.1199C>A (p.Ser400Tyr) | not specified [RCV004141565] | uncertain significance | 12 | 82403050 | 82403050 | Human | | name |
| 155964160 | CV2282812 | single nucleotide variant | NM_024109.4(METTL22):c.1082C>T (p.Ala361Val) | not specified [RCV004141659] | uncertain significance | 16 | 8644628 | 8644628 | Human | | name |
| 155988153 | CV2285319 | single nucleotide variant | NM_181725.4(METTL2A):c.1046G>A (p.Arg349Gln) | not specified [RCV004139198] | uncertain significance | 17 | 62448638 | 62448638 | Human | | name |
| 156004241 | CV2290130 | single nucleotide variant | NM_032230.3(METTL25):c.1619G>A (p.Arg540Gln) | not specified [RCV004152799] | uncertain significance | 12 | 82476690 | 82476690 | Human | | name |
| 156194748 | CV2297144 | single nucleotide variant | NM_032230.3(METTL25):c.1576C>T (p.Pro526Ser) | not specified [RCV004151041] | uncertain significance | 12 | 82476647 | 82476647 | Human | | name |
| 156051022 | CV2328926 | single nucleotide variant | NM_001123364.3(METTL24):c.71T>G (p.Leu24Trp) | not specified [RCV004180229] | uncertain significance | 6 | 110358202 | 110358202 | Human | | name |
| 156171975 | CV2337562 | single nucleotide variant | NM_032230.3(METTL25):c.1196C>T (p.Thr399Ile) | not specified [RCV004187986] | uncertain significance | 12 | 82403047 | 82403047 | Human | | name |
| 155967784 | CV2339236 | single nucleotide variant | NM_181725.4(METTL2A):c.1032C>G (p.Asn344Lys) | not specified [RCV004191477] | uncertain significance | 17 | 62448624 | 62448624 | Human | | name |
| 155974357 | CV2341424 | single nucleotide variant | NM_024109.4(METTL22):c.1066C>T (p.Arg356Cys) | not specified [RCV004188821] | uncertain significance | 16 | 8644612 | 8644612 | Human | | name |
| 155902817 | CV2356535 | single nucleotide variant | NM_024109.4(METTL22):c.1198G>A (p.Ala400Thr) | not specified [RCV004199446] | uncertain significance | 16 | 8646126 | 8646126 | Human | | name |
| 156189071 | CV2356566 | single nucleotide variant | NM_181725.4(METTL2A):c.1061G>A (p.Arg354Gln) | not specified [RCV004201936] | uncertain significance | 17 | 62448653 | 62448653 | Human | | name |
| 329370730 | CV2435669 | single nucleotide variant | NM_032230.3(METTL25):c.1384C>T (p.Arg462Trp) | not specified [RCV004254907] | uncertain significance | 12 | 82434704 | 82434704 | Human | | name |
| 329389571 | CV2445087 | single nucleotide variant | NM_015997.4(METTL25B):c.380G>A (p.Arg127Gln) | not specified [RCV004261691] | uncertain significance | 1 | 156732424 | 156732424 | Human | | name |
| 329376736 | CV2460453 | single nucleotide variant | NM_032230.3(METTL25):c.1646T>C (p.Met549Thr) | not specified [RCV004268752] | uncertain significance | 12 | 82476717 | 82476717 | Human | | name |
| 329394600 | CV2461436 | single nucleotide variant | NM_015997.4(METTL25B):c.964C>G (p.Leu322Val) | not specified [RCV004267582] | uncertain significance | 1 | 156734336 | 156734336 | Human | | name |
| 329399472 | CV2470113 | single nucleotide variant | NM_018396.3(METTL2B):c.1042C>T (p.Arg348Cys) | not specified [RCV004287369] | uncertain significance | 7 | 128501821 | 128501821 | Human | | name |
| 401728042 | CV2685772 | single nucleotide variant | NM_015997.4(METTL25B):c.656G>A (p.Arg219His) | not specified [RCV004294763] | uncertain significance | 1 | 156734028 | 156734028 | Human | | name |
| 401748545 | CV2702296 | single nucleotide variant | NM_024109.4(METTL22):c.1166G>A (p.Arg389His) | not specified [RCV004314625] | uncertain significance | 16 | 8644712 | 8644712 | Human | | name |
| 401857003 | CV2765202 | single nucleotide variant | NM_015997.4(METTL25B):c.797C>G (p.Ala266Gly) | not specified [RCV004339729] | uncertain significance | 1 | 156734169 | 156734169 | Human | | name |
| 401893659 | CV2765393 | single nucleotide variant | NM_015997.4(METTL25B):c.922T>C (p.Tyr308His) | not specified [RCV004339894] | uncertain significance | 1 | 156734294 | 156734294 | Human | | name |
| 401860978 | CV2772318 | single nucleotide variant | NM_032230.3(METTL25):c.1472C>T (p.Thr491Ile) | not specified [RCV004353334] | uncertain significance | 12 | 82438785 | 82438785 | Human | | name |
| 401892230 | CV2776015 | single nucleotide variant | NM_032230.3(METTL25):c.1037T>C (p.Met346Thr) | not specified [RCV004353126] | likely benign | 12 | 82399300 | 82399300 | Human | | name |
| 401883100 | CV2785532 | single nucleotide variant | NM_018396.3(METTL2B):c.1127G>C (p.Ser376Thr) | not specified [RCV004363054] | uncertain significance | 7 | 128501906 | 128501906 | Human | | name |
| 401898298 | CV2791073 | single nucleotide variant | NM_015997.4(METTL25B):c.379C>T (p.Arg127Trp) | not specified [RCV004356461] | uncertain significance | 1 | 156732423 | 156732423 | Human | | name |
| 405694935 | CV3278349 | single nucleotide variant | NM_001123364.3(METTL24):c.37G>A (p.Val13Ile) | not specified [RCV004424355] | uncertain significance | 6 | 110358236 | 110358236 | Human | | name |
| 405694941 | CV3278350 | single nucleotide variant | NM_001123364.3(METTL24):c.47G>T (p.Arg16Leu) | not specified [RCV004424356] | uncertain significance | 6 | 110358226 | 110358226 | Human | | name |
| 405694964 | CV3278355 | single nucleotide variant | NM_001123364.3(METTL24):c.83G>A (p.Arg28Gln) | not specified [RCV004424361] | uncertain significance | 6 | 110358190 | 110358190 | Human | | name |
| 405694974 | CV3278357 | single nucleotide variant | NM_032230.3(METTL25):c.1082C>T (p.Ser361Phe) | not specified [RCV004424363] | uncertain significance | 12 | 82399345 | 82399345 | Human | | name |
| 405694980 | CV3278358 | single nucleotide variant | NM_032230.3(METTL25):c.1309A>G (p.Met437Val) | not specified [RCV004424364] | uncertain significance | 12 | 82430922 | 82430922 | Human | | name |
| 405694986 | CV3278359 | single nucleotide variant | NM_032230.3(METTL25):c.1430G>A (p.Arg477His) | not specified [RCV004424365] | uncertain significance | 12 | 82438743 | 82438743 | Human | | name |
| 405695000 | CV3278361 | single nucleotide variant | NM_032230.3(METTL25):c.1678A>G (p.Thr560Ala) | not specified [RCV004424367] | uncertain significance | 12 | 82477311 | 82477311 | Human | | name |
| 405695005 | CV3278362 | single nucleotide variant | NM_032230.3(METTL25):c.1774A>G (p.Arg592Gly) | not specified [RCV004424368] | uncertain significance | 12 | 82478986 | 82478986 | Human | | name |
| 405695010 | CV3278363 | single nucleotide variant | NM_032230.3(METTL25):c.1777T>C (p.Cys593Arg) | not specified [RCV004424369] | uncertain significance | 12 | 82478989 | 82478989 | Human | | name |
| 405695078 | CV3278376 | single nucleotide variant | NM_015997.4(METTL25B):c.362G>A (p.Arg121Gln) | not specified [RCV004424382] | uncertain significance | 1 | 156732406 | 156732406 | Human | | name |
| 405695083 | CV3278377 | single nucleotide variant | NM_015997.4(METTL25B):c.382A>G (p.Lys128Glu) | not specified [RCV004424383] | uncertain significance | 1 | 156732426 | 156732426 | Human | | name |
| 405695088 | CV3278378 | single nucleotide variant | NM_015997.4(METTL25B):c.449A>G (p.Asp150Gly) | not specified [RCV004424384] | uncertain significance | 1 | 156733004 | 156733004 | Human | | name |
| 405695092 | CV3278379 | single nucleotide variant | NM_015997.4(METTL25B):c.478G>A (p.Val160Met) | not specified [RCV004424385] | uncertain significance | 1 | 156733033 | 156733033 | Human | | name |
| 405659710 | CV3278381 | single nucleotide variant | NM_015997.4(METTL25B):c.531G>T (p.Leu177Phe) | not specified [RCV004416867] | uncertain significance | 1 | 156733415 | 156733415 | Human | | name |
| 405659713 | CV3278382 | single nucleotide variant | NM_015997.4(METTL25B):c.568G>A (p.Glu190Lys) | not specified [RCV004416868] | uncertain significance | 1 | 156733452 | 156733452 | Human | | name |
| 405659716 | CV3278383 | single nucleotide variant | NM_015997.4(METTL25B):c.673G>A (p.Val225Met) | not specified [RCV004416869] | uncertain significance | 1 | 156734045 | 156734045 | Human | | name |
| 405659720 | CV3278384 | single nucleotide variant | NM_015997.4(METTL25B):c.690C>A (p.Asp230Glu) | not specified [RCV004416870] | uncertain significance | 1 | 156734062 | 156734062 | Human | | name |
| 405659723 | CV3278385 | single nucleotide variant | NM_015997.4(METTL25B):c.716T>C (p.Leu239Pro) | not specified [RCV004416871] | uncertain significance | 1 | 156734088 | 156734088 | Human | | name |
| 405659726 | CV3278386 | single nucleotide variant | NM_015997.4(METTL25B):c.751C>G (p.Arg251Gly) | not specified [RCV004416872] | uncertain significance | 1 | 156734123 | 156734123 | Human | | name |
| 405659729 | CV3278387 | single nucleotide variant | NM_015997.4(METTL25B):c.751C>T (p.Arg251Cys) | not specified [RCV004416873] | uncertain significance | 1 | 156734123 | 156734123 | Human | | name |
| 405659732 | CV3278388 | single nucleotide variant | NM_015997.4(METTL25B):c.752G>A (p.Arg251His) | not specified [RCV004416874] | uncertain significance | 1 | 156734124 | 156734124 | Human | | name |
| 405659735 | CV3278389 | single nucleotide variant | NM_015997.4(METTL25B):c.767G>A (p.Gly256Asp) | not specified [RCV004416875] | uncertain significance | 1 | 156734139 | 156734139 | Human | | name |
| 405659738 | CV3278390 | single nucleotide variant | NM_015997.4(METTL25B):c.784G>A (p.Asp262Asn) | not specified [RCV004416876] | uncertain significance | 1 | 156734156 | 156734156 | Human | | name |
| 405659744 | CV3278392 | single nucleotide variant | NM_015997.4(METTL25B):c.944G>A (p.Arg315Gln) | not specified [RCV004416878] | uncertain significance | 1 | 156734316 | 156734316 | Human | | name |
| 405659814 | CV3278415 | single nucleotide variant | NM_018396.3(METTL2B):c.1025T>C (p.Val342Ala) | not specified [RCV004416901] | uncertain significance | 7 | 128501804 | 128501804 | Human | | name |
| 405659817 | CV3278416 | single nucleotide variant | NM_018396.3(METTL2B):c.1033C>G (p.Leu345Val) | not specified [RCV004416902] | uncertain significance | 7 | 128501812 | 128501812 | Human | | name |
| 405694847 | CV3282186 | single nucleotide variant | NM_024109.4(METTL22):c.1080C>A (p.His360Gln) | not specified [RCV004424338] | uncertain significance | 16 | 8644626 | 8644626 | Human | | name |
| 405694862 | CV3282189 | single nucleotide variant | NM_024109.4(METTL22):c.1157T>C (p.Val386Ala) | not specified [RCV004424341] | uncertain significance | 16 | 8644703 | 8644703 | Human | | name |
| 407503263 | CV3450084 | single nucleotide variant | NM_001010977.3(METTL21C):c.13C>A (p.Leu5Met) | not specified [RCV004645417] | uncertain significance | 13 | 102694486 | 102694486 | Human | | name |
| 407503270 | CV3450086 | single nucleotide variant | NM_024109.4(METTL22):c.1052C>G (p.Ala351Gly) | not specified [RCV004645419] | uncertain significance | 16 | 8644598 | 8644598 | Human | | name |
| 407518248 | CV3450088 | single nucleotide variant | NM_024109.4(METTL22):c.1150C>G (p.Leu384Val) | not specified [RCV004628804] | uncertain significance | 16 | 8644696 | 8644696 | Human | | name |
| 407518251 | CV3450099 | single nucleotide variant | NM_032230.3(METTL25):c.1672A>T (p.Ile558Leu) | not specified [RCV004628805] | uncertain significance | 12 | 82477305 | 82477305 | Human | | name |
| 407503307 | CV3450100 | single nucleotide variant | NM_032230.3(METTL25):c.1349G>A (p.Arg450His) | not specified [RCV004645431] | uncertain significance | 12 | 82430962 | 82430962 | Human | | name |
| 407503310 | CV3450101 | single nucleotide variant | NM_032230.3(METTL25):c.1016C>T (p.Ala339Val) | not specified [RCV004645432] | uncertain significance | 12 | 82399279 | 82399279 | Human | | name |
| 597650730 | CV3551941 | single nucleotide variant | NM_001080510.5(METTL23):c.65C>G (p.Pro22Arg) | not provided [RCV004820654] | uncertain significance | 17 | 76729775 | 76729775 | Human | | name |
| 597679145 | CV3553523 | single nucleotide variant | NM_024109.4(METTL22):c.1129G>A (p.Val377Met) | not specified [RCV004830636] | uncertain significance | 16 | 8644675 | 8644675 | Human | | name |
| 597679171 | CV3553528 | single nucleotide variant | NM_024109.4(METTL22):c.1089G>C (p.Glu363Asp) | not specified [RCV004830639] | uncertain significance | 16 | 8644635 | 8644635 | Human | | name |
| 597679200 | CV3553531 | single nucleotide variant | NM_024109.4(METTL22):c.1112G>A (p.Arg371His) | not specified [RCV004830642] | uncertain significance | 16 | 8644658 | 8644658 | Human | | name |
| 597679234 | CV3553540 | single nucleotide variant | NM_032230.3(METTL25):c.1537C>T (p.Arg513Trp) | not specified [RCV004830646] | uncertain significance | 12 | 82456785 | 82456785 | Human | | name |
| 597679244 | CV3553543 | single nucleotide variant | NM_032230.3(METTL25):c.1385G>A (p.Arg462Gln) | not specified [RCV004830647] | uncertain significance | 12 | 82434705 | 82434705 | Human | | name |
| 597679264 | CV3553545 | single nucleotide variant | NM_032230.3(METTL25):c.1645A>T (p.Met549Leu) | not specified [RCV004830649] | uncertain significance | 12 | 82476716 | 82476716 | Human | | name |
| 597635080 | CV3553548 | single nucleotide variant | NM_032230.3(METTL25):c.1252T>C (p.Ser418Pro) | not specified [RCV004824277] | uncertain significance | 12 | 82403103 | 82403103 | Human | | name |
| 597635090 | CV3553552 | single nucleotide variant | NM_015997.4(METTL25B):c.934T>C (p.Tyr312His) | not specified [RCV004824279] | uncertain significance | 1 | 156734306 | 156734306 | Human | | name |
| 597632942 | CV3553560 | single nucleotide variant | NM_015997.4(METTL25B):c.547G>A (p.Glu183Lys) | not specified [RCV004830659] | uncertain significance | 1 | 156733431 | 156733431 | Human | | name |
| 597632935 | CV3553561 | single nucleotide variant | NM_015997.4(METTL25B):c.983G>T (p.Arg328Leu) | not specified [RCV004830660] | uncertain significance | 1 | 156734355 | 156734355 | Human | | name |
| 597635102 | CV3553562 | single nucleotide variant | NM_015997.4(METTL25B):c.655C>T (p.Arg219Cys) | not specified [RCV004824281] | uncertain significance | 1 | 156734027 | 156734027 | Human | | name |
| 597635107 | CV3553563 | single nucleotide variant | NM_015997.4(METTL25B):c.982C>G (p.Arg328Gly) | not specified [RCV004824282] | uncertain significance | 1 | 156734354 | 156734354 | Human | | name |
| 597632910 | CV3553568 | single nucleotide variant | NM_181725.4(METTL2A):c.1092G>T (p.Trp364Cys) | not specified [RCV004830665] | uncertain significance | 17 | 62448684 | 62448684 | Human | | name |
| 597635113 | CV3553569 | single nucleotide variant | NM_181725.4(METTL2A):c.1027C>G (p.Gln343Glu) | not specified [RCV004824283] | uncertain significance | 17 | 62448619 | 62448619 | Human | | name |
| 597632893 | CV3553572 | single nucleotide variant | NM_181725.4(METTL2A):c.1010C>A (p.Ala337Asp) | not specified [RCV004830668] | uncertain significance | 17 | 62448602 | 62448602 | Human | | name |
| 597632876 | CV3553576 | single nucleotide variant | NM_018396.3(METTL2B):c.1084C>T (p.Arg362Trp) | not specified [RCV004830671] | uncertain significance | 7 | 128501863 | 128501863 | Human | | name |
| 597632866 | CV3553578 | single nucleotide variant | NM_018396.3(METTL2B):c.1071A>C (p.Gln357His) | not specified [RCV004830673] | uncertain significance | 7 | 128501850 | 128501850 | Human | | name |
| 598251963 | CV3982097 | single nucleotide variant | NM_024109.4(METTL22):c.1168C>T (p.Leu390Phe) | not specified [RCV005366924] | uncertain significance | 16 | 8644714 | 8644714 | Human | | name |
| 598226452 | CV3982101 | single nucleotide variant | NM_024109.4(METTL22):c.1061A>G (p.His354Arg) | not specified [RCV005380572] | uncertain significance | 16 | 8644607 | 8644607 | Human | | name |
| 598252261 | CV3982105 | single nucleotide variant | NM_001123364.3(METTL24):c.55C>T (p.Leu19Phe) | not specified [RCV005366930] | uncertain significance | 6 | 110358218 | 110358218 | Human | | name |
| 598226424 | CV3982112 | single nucleotide variant | NM_032230.3(METTL25):c.1484G>A (p.Arg495Gln) | not specified [RCV005380576] | likely benign | 12 | 82456732 | 82456732 | Human | | name |
| 598226416 | CV3982114 | single nucleotide variant | NM_032230.3(METTL25):c.1282C>T (p.Arg428Cys) | not specified [RCV005380577] | likely benign | 12 | 82430895 | 82430895 | Human | | name |
| 598226409 | CV3982115 | single nucleotide variant | NM_032230.3(METTL25):c.1645A>G (p.Met549Val) | not specified [RCV005380578] | uncertain significance | 12 | 82476716 | 82476716 | Human | | name |
| 598252234 | CV3982116 | single nucleotide variant | NM_032230.3(METTL25):c.1114A>G (p.Ile372Val) | not specified [RCV005366935] | uncertain significance | 12 | 82399377 | 82399377 | Human | | name |
| 598226178 | CV3982117 | single nucleotide variant | NM_032230.3(METTL25):c.1321T>A (p.Leu441Ile) | not specified [RCV005380579] | uncertain significance | 12 | 82430934 | 82430934 | Human | | name |
| 598226186 | CV3982118 | single nucleotide variant | NM_032230.3(METTL25):c.1090A>T (p.Thr364Ser) | not specified [RCV005380580] | uncertain significance | 12 | 82399353 | 82399353 | Human | | name |
| 598226220 | CV3982125 | single nucleotide variant | NM_015997.4(METTL25B):c.887A>C (p.Tyr296Ser) | not specified [RCV005380585] | uncertain significance | 1 | 156734259 | 156734259 | Human | | name |
| 598252219 | CV3982126 | single nucleotide variant | NM_015997.4(METTL25B):c.730A>G (p.Asn244Asp) | not specified [RCV005366938] | uncertain significance | 1 | 156734102 | 156734102 | Human | | name |
| 13532500 | CV512324 | duplication | NM_001080510.5(METTL23):c.150dup (p.Asp51fs) | Inborn genetic diseases [RCV000624260] | pathogenic | 17 | 76733042 | 76733043 | Human | 1 | name |
| 13532978 | CV512325 | deletion | NM_001080510.5(METTL23):c.178del (p.Glu60fs) | Inborn genetic diseases [RCV000624747] | pathogenic | 17 | 76733070 | 76733070 | Human | 1 | name |
| 38598660 | CV800958 | duplication | NM_001080510.5(METTL23):c.178dup (p.Glu60fs) | Intellectual disability, autosomal recessive 44 [RCV001251447] | pathogenic | 17 | 76733069 | 76733070 | Human | 1 | name |
| 126731447 | CV1021704 | single nucleotide variant | NM_001080510.5(METTL23):c.250A>G (p.Ile84Val) | Inborn genetic diseases [RCV004639578]|Intellectual disability, autosomal recessive 44 [RCV001333722] | likely benign|uncertain significance | 17 | 76733143 | 76733143 | Human | 2 | name |
| 155645328 | CV1710785 | single nucleotide variant | NM_001080510.5(METTL23):c.266T>A (p.Leu89Gln) | Intellectual disability, autosomal recessive 44 [RCV002294572] | uncertain significance | 17 | 76733159 | 76733159 | Human | 1 | name |
| 155799266 | CV1862431 | deletion | NM_001080510.5(METTL23):c.409del (p.Ala137fs) | Intellectual disability, autosomal recessive 44 [RCV002471837] | likely pathogenic | 17 | 76733522 | 76733522 | Human | 1 | name |
| 156225504 | CV2203057 | single nucleotide variant | NM_001080510.5(METTL23):c.188G>A (p.Arg63Gln) | Inborn genetic diseases [RCV002644604] | uncertain significance | 17 | 76733081 | 76733081 | Human | 1 | name |
| 156270104 | CV2240314 | single nucleotide variant | NM_001010977.3(METTL21C):c.38G>A (p.Arg13His) | not specified [RCV004112868] | uncertain significance | 13 | 102694461 | 102694461 | Human | | name |
| 155974119 | CV2317830 | single nucleotide variant | NM_001010977.3(METTL21C):c.56G>A (p.Ser19Asn) | not specified [RCV004175071] | uncertain significance | 13 | 102694443 | 102694443 | Human | | name |
| 156083094 | CV2394903 | single nucleotide variant | NM_001123364.3(METTL24):c.233G>A (p.Ser78Asn) | not specified [RCV004234557] | uncertain significance | 6 | 110358040 | 110358040 | Human | | name |
| 156096838 | CV2399133 | single nucleotide variant | NM_001123364.3(METTL24):c.119C>A (p.Ser40Tyr) | not specified [RCV004246566] | uncertain significance | 6 | 110358154 | 110358154 | Human | | name |
| 243053127 | CV2416269 | single nucleotide variant | NM_001080510.5(METTL23):c.127T>C (p.Cys43Arg) | not provided [RCV003149330] | uncertain significance | 17 | 76733020 | 76733020 | Human | | name |
| 329369371 | CV2450622 | single nucleotide variant | NM_015997.4(METTL25B):c.1321C>T (p.Leu441Phe) | not specified [RCV004265513] | uncertain significance | 1 | 156736646 | 156736646 | Human | | name |
| 401774960 | CV2688347 | single nucleotide variant | NM_001010977.3(METTL21C):c.88A>G (p.Lys30Glu) | not specified [RCV004299349] | likely benign | 13 | 102694411 | 102694411 | Human | | name |
| 401734901 | CV2688646 | single nucleotide variant | NM_001010977.3(METTL21C):c.41G>A (p.Arg14Gln) | not specified [RCV004301591] | likely benign | 13 | 102694458 | 102694458 | Human | | name |
| 401769136 | CV2693313 | single nucleotide variant | NM_001123364.3(METTL24):c.127C>G (p.Arg43Gly) | not specified [RCV004295276] | uncertain significance | 6 | 110358146 | 110358146 | Human | | name |
| 401749168 | CV2694578 | single nucleotide variant | NM_001123364.3(METTL24):c.171C>A (p.His57Gln) | not specified [RCV004298699] | uncertain significance | 6 | 110358102 | 110358102 | Human | | name |
| 401729439 | CV2733046 | single nucleotide variant | NM_001123364.3(METTL24):c.112C>T (p.Pro38Ser) | not specified [RCV004331216] | uncertain significance | 6 | 110358161 | 110358161 | Human | | name |
| 401855952 | CV2754148 | single nucleotide variant | NM_001080510.5(METTL23):c.278C>T (p.Pro93Leu) | Inborn genetic diseases [RCV003340114] | uncertain significance | 17 | 76733171 | 76733171 | Human | 1 | name |
| 405694904 | CV3278343 | single nucleotide variant | NM_001080510.5(METTL23):c.281A>T (p.Gln94Leu) | Inborn genetic diseases [RCV004424349] | uncertain significance | 17 | 76733174 | 76733174 | Human | 1 | name |
| 405694926 | CV3278347 | single nucleotide variant | NM_001123364.3(METTL24):c.233G>C (p.Ser78Thr) | not specified [RCV004424353] | uncertain significance | 6 | 110358040 | 110358040 | Human | | name |
| 405695034 | CV3278368 | single nucleotide variant | NM_015997.4(METTL25B):c.1017C>G (p.His339Gln) | not specified [RCV004424374] | uncertain significance | 1 | 156734389 | 156734389 | Human | | name |
| 405695038 | CV3278369 | single nucleotide variant | NM_015997.4(METTL25B):c.1024C>G (p.Arg342Gly) | not specified [RCV004424375] | uncertain significance | 1 | 156734396 | 156734396 | Human | | name |
| 405695044 | CV3278370 | single nucleotide variant | NM_015997.4(METTL25B):c.1051C>T (p.Arg351Trp) | not specified [RCV004424376] | uncertain significance | 1 | 156734423 | 156734423 | Human | | name |
| 405695050 | CV3278371 | single nucleotide variant | NM_015997.4(METTL25B):c.1058G>A (p.Arg353Gln) | not specified [RCV004424377] | likely benign | 1 | 156734430 | 156734430 | Human | | name |
| 405695054 | CV3278372 | single nucleotide variant | NM_015997.4(METTL25B):c.1072C>G (p.Arg358Gly) | not specified [RCV004424378] | uncertain significance | 1 | 156734444 | 156734444 | Human | | name |
| 405695059 | CV3278373 | single nucleotide variant | NM_015997.4(METTL25B):c.1094C>A (p.Pro365His) | not specified [RCV004424379] | uncertain significance | 1 | 156734466 | 156734466 | Human | | name |
| 405695066 | CV3278374 | single nucleotide variant | NM_015997.4(METTL25B):c.1178T>C (p.Leu393Pro) | not specified [RCV004424380] | uncertain significance | 1 | 156735781 | 156735781 | Human | | name |
| 405695072 | CV3278375 | single nucleotide variant | NM_015997.4(METTL25B):c.1282C>T (p.Arg428Trp) | not specified [RCV004424381] | uncertain significance | 1 | 156735885 | 156735885 | Human | | name |
| 407518245 | CV3450083 | single nucleotide variant | NM_001010977.3(METTL21C):c.62C>T (p.Pro21Leu) | not specified [RCV004628803] | uncertain significance | 13 | 102694437 | 102694437 | Human | | name |
| 407503318 | CV3450105 | single nucleotide variant | NM_015997.4(METTL25B):c.1047C>G (p.Ile349Met) | not specified [RCV004645434] | uncertain significance | 1 | 156734419 | 156734419 | Human | | name |
| 407503321 | CV3450106 | single nucleotide variant | NM_015997.4(METTL25B):c.1265C>T (p.Thr422Met) | not specified [RCV004645435] | uncertain significance | 1 | 156735868 | 156735868 | Human | | name |
| 407503325 | CV3450107 | single nucleotide variant | NM_015997.4(METTL25B):c.1387C>G (p.Leu463Val) | not specified [RCV004645436] | uncertain significance | 1 | 156736712 | 156736712 | Human | | name |
| 407503328 | CV3450108 | single nucleotide variant | NM_015997.4(METTL25B):c.1105G>A (p.Glu369Lys) | not specified [RCV004645437] | uncertain significance | 1 | 156734477 | 156734477 | Human | | name |
| 597635049 | CV3553534 | single nucleotide variant | NM_001123364.3(METTL24):c.296C>T (p.Pro99Leu) | not specified [RCV004824271] | uncertain significance | 6 | 110357977 | 110357977 | Human | | name |
| 597632978 | CV3553551 | single nucleotide variant | NM_015997.4(METTL25B):c.1069C>T (p.Arg357Cys) | not specified [RCV004830652] | uncertain significance | 1 | 156734441 | 156734441 | Human | | name |
| 597635096 | CV3553554 | single nucleotide variant | NM_015997.4(METTL25B):c.1162C>A (p.Gln388Lys) | not specified [RCV004824280] | uncertain significance | 1 | 156735765 | 156735765 | Human | | name |
| 597632947 | CV3553559 | single nucleotide variant | NM_015997.4(METTL25B):c.1400T>C (p.Leu467Pro) | not specified [RCV004830658] | uncertain significance | 1 | 156736725 | 156736725 | Human | | name |
| 598251942 | CV3982087 | single nucleotide variant | NM_001127395.5(METTL21A):c.64G>C (p.Ala22Pro) | not specified [RCV005366920] | uncertain significance | 2 | 207624312 | 207624312 | Human | | name |
| 598252274 | CV3982103 | single nucleotide variant | NM_001123364.3(METTL24):c.272C>A (p.Thr91Lys) | not specified [RCV005366928] | uncertain significance | 6 | 110358001 | 110358001 | Human | | name |
| 598226445 | CV3982108 | single nucleotide variant | NM_001123364.3(METTL24):c.140C>A (p.Pro47Gln) | not specified [RCV005380573] | uncertain significance | 6 | 110358133 | 110358133 | Human | | name |
| 598226228 | CV3982127 | single nucleotide variant | NM_015997.4(METTL25B):c.1283G>A (p.Arg428Gln) | not specified [RCV005380586] | uncertain significance | 1 | 156735886 | 156735886 | Human | | name |
| 13216806 | CV430015 | single nucleotide variant | NM_001080510.5(METTL23):c.271C>G (p.Leu91Val) | Inborn genetic diseases [RCV004639254]|Intellectual disability, autosomal recessive 44 [RCV004722837]|not specified [RCV000504220] | likely benign|uncertain significance | 17 | 76733164 | 76733164 | Human | 2 | name |
| 13530773 | CV512328 | deletion | NM_001080510.5(METTL23):c.504del (p.Glu169fs) | Inborn genetic diseases [RCV000622770]|not provided [RCV002510934] | likely pathogenic|uncertain significance | 17 | 76733617 | 76733617 | Human | 1 | name |
| 126728259 | CV1018380 | single nucleotide variant | NM_001080510.5(METTL23):c.521G>T (p.Gly174Val) | Intellectual disability, autosomal recessive 44 [RCV001332770] | uncertain significance | 17 | 76733634 | 76733634 | Human | 1 | name |
| 126734936 | CV1021705 | single nucleotide variant | NM_001080510.5(METTL23):c.319G>A (p.Glu107Lys) | Intellectual disability, autosomal recessive 44 [RCV001334740] | uncertain significance | 17 | 76733212 | 76733212 | Human | 1 | name |
| 126734942 | CV1021706 | single nucleotide variant | NM_001080510.5(METTL23):c.417G>T (p.Trp139Cys) | Intellectual disability, autosomal recessive 44 [RCV001334741] | uncertain significance | 17 | 76733530 | 76733530 | Human | 1 | name |
| 126734946 | CV1021707 | single nucleotide variant | NM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr) | Intellectual disability, autosomal recessive 44 [RCV001334742] | uncertain significance | 17 | 76733609 | 76733609 | Human | 1 | name |
| 9481102 | CV153756 | single nucleotide variant | NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter) | Intellectual disability, autosomal recessive 44 [RCV000133534] | pathogenic | 17 | 76733367 | 76733367 | Human | 1 | name |
| 152081047 | CV1667075 | single nucleotide variant | NM_001080510.5(METTL23):c.299C>T (p.Ser100Phe) | not provided [RCV002211421] | uncertain significance | 17 | 76733192 | 76733192 | Human | | name |
| 10449906 | CV215545 | single nucleotide variant | NM_001080510.5(METTL23):c.406A>G (p.Ser136Gly) | Inborn genetic diseases [RCV004020495]|not specified [RCV000203093] | uncertain significance | 17 | 76733376 | 76733376 | Human | 1 | name |
| 156154316 | CV2242283 | single nucleotide variant | NM_001010977.3(METTL21C):c.190G>A (p.Ala64Thr) | not specified [RCV004111303] | uncertain significance | 13 | 102690905 | 102690905 | Human | | name |
| 156284433 | CV2291905 | single nucleotide variant | NM_001123364.3(METTL24):c.715G>A (p.Val239Ile) | not specified [RCV004158423] | uncertain significance | 6 | 110298993 | 110298993 | Human | | name |
| 156162588 | CV2319561 | single nucleotide variant | NM_001123364.3(METTL24):c.334A>G (p.Ile112Val) | not specified [RCV004185121] | uncertain significance | 6 | 110322857 | 110322857 | Human | | name |
| 156037054 | CV2332502 | single nucleotide variant | NM_001127395.5(METTL21A):c.250G>C (p.Ala84Pro) | not specified [RCV004196225] | uncertain significance | 2 | 207621815 | 207621815 | Human | | name |
| 155980199 | CV2343435 | single nucleotide variant | NM_001010977.3(METTL21C):c.262G>A (p.Gly88Arg) | not specified [RCV004197509] | uncertain significance | 13 | 102690833 | 102690833 | Human | | name |
| 156341938 | CV2368483 | single nucleotide variant | NM_001123364.3(METTL24):c.314G>C (p.Arg105Pro) | not specified [RCV004221284] | uncertain significance | 6 | 110357959 | 110357959 | Human | | name |
| 156177294 | CV2374510 | single nucleotide variant | NM_001123364.3(METTL24):c.314G>A (p.Arg105Gln) | not specified [RCV004232013] | uncertain significance | 6 | 110357959 | 110357959 | Human | | name |
| 329366791 | CV2441891 | single nucleotide variant | NM_001080510.5(METTL23):c.360G>C (p.Met120Ile) | Inborn genetic diseases [RCV003207948] | uncertain significance | 17 | 76733330 | 76733330 | Human | 1 | name |
| 11525831 | CV247141 | single nucleotide variant | NM_001080510.5(METTL23):c.496G>A (p.Asp166Asn) | not provided [RCV000894285]|not specified [RCV000238877] | benign|likely benign | 17 | 76733609 | 76733609 | Human | | name |
| 329395729 | CV2473112 | single nucleotide variant | NM_001080510.5(METTL23):c.403A>G (p.Arg135Gly) | not provided [RCV003219096] | uncertain significance | 17 | 76733373 | 76733373 | Human | | name |
| 401755752 | CV2678930 | single nucleotide variant | NM_001123364.3(METTL24):c.620G>A (p.Arg207His) | not specified [RCV004294947] | uncertain significance | 6 | 110299088 | 110299088 | Human | | name |
| 401752985 | CV2681078 | single nucleotide variant | NM_001010977.3(METTL21C):c.115G>A (p.Gly39Arg) | not specified [RCV004296138] | uncertain significance | 13 | 102694384 | 102694384 | Human | | name |
| 401753472 | CV2684952 | single nucleotide variant | NM_001123364.3(METTL24):c.491G>A (p.Cys164Tyr) | not specified [RCV004296452] | uncertain significance | 6 | 110315408 | 110315408 | Human | | name |
| 401772589 | CV2687745 | single nucleotide variant | NM_001127395.5(METTL21A):c.265C>T (p.His89Tyr) | not specified [RCV004302732] | uncertain significance | 2 | 207613438 | 207613438 | Human | | name |
| 401883262 | CV2760774 | single nucleotide variant | NM_001123364.3(METTL24):c.679C>T (p.Arg227Cys) | not specified [RCV004336418] | uncertain significance | 6 | 110299029 | 110299029 | Human | | name |
| 405694907 | CV3278344 | single nucleotide variant | NM_001080510.5(METTL23):c.376G>A (p.Val126Ile) | Inborn genetic diseases [RCV004424350] | uncertain significance | 17 | 76733346 | 76733346 | Human | 1 | name |
| 405694929 | CV3278348 | single nucleotide variant | NM_001123364.3(METTL24):c.325C>T (p.Arg109Trp) | not specified [RCV004424354] | uncertain significance | 6 | 110322866 | 110322866 | Human | | name |
| 405694945 | CV3278351 | single nucleotide variant | NM_001123364.3(METTL24):c.646C>T (p.His216Tyr) | not specified [RCV004424357] | uncertain significance | 6 | 110299062 | 110299062 | Human | | name |
| 405694951 | CV3278352 | single nucleotide variant | NM_001123364.3(METTL24):c.651T>G (p.Ile217Met) | not specified [RCV004424358] | uncertain significance | 6 | 110299057 | 110299057 | Human | | name |
| 405694956 | CV3278353 | single nucleotide variant | NM_001123364.3(METTL24):c.698G>T (p.Arg233Leu) | not specified [RCV004424359] | uncertain significance | 6 | 110299010 | 110299010 | Human | | name |
| 405694960 | CV3278354 | single nucleotide variant | NM_001123364.3(METTL24):c.767A>G (p.Asn256Ser) | not specified [RCV004424360] | uncertain significance | 6 | 110298941 | 110298941 | Human | | name |
| 405694970 | CV3278356 | single nucleotide variant | NM_001123364.3(METTL24):c.937G>A (p.Val313Ile) | not specified [RCV004424362] | uncertain significance | 6 | 110246110 | 110246110 | Human | | name |
| 405694801 | CV3282178 | single nucleotide variant | NM_001127395.5(METTL21A):c.236T>A (p.Val79Glu) | not specified [RCV004424330] | uncertain significance | 2 | 207621829 | 207621829 | Human | | name |
| 407503261 | CV3450082 | single nucleotide variant | NM_001127395.5(METTL21A):c.245T>C (p.Val82Ala) | not specified [RCV004645416] | uncertain significance | 2 | 207621820 | 207621820 | Human | | name |
| 407503292 | CV3450094 | single nucleotide variant | NM_001123364.3(METTL24):c.526C>T (p.Arg176Cys) | not specified [RCV004645426] | uncertain significance | 6 | 110315373 | 110315373 | Human | | name |
| 407503295 | CV3450095 | single nucleotide variant | NM_001123364.3(METTL24):c.322C>G (p.Pro108Ala) | not specified [RCV004645427] | uncertain significance | 6 | 110322869 | 110322869 | Human | | name |
| 407503299 | CV3450096 | single nucleotide variant | NM_001123364.3(METTL24):c.311G>A (p.Arg104His) | not specified [RCV004645428] | uncertain significance | 6 | 110357962 | 110357962 | Human | | name |
| 408392809 | CV3519578 | single nucleotide variant | NM_001080510.5(METTL23):c.442T>C (p.Trp148Arg) | not provided [RCV004763874] | uncertain significance | 17 | 76733555 | 76733555 | Human | | name |
| 597679026 | CV3553508 | single nucleotide variant | NM_001127395.5(METTL21A):c.227C>T (p.Thr76Met) | not specified [RCV004830623] | uncertain significance | 2 | 207621838 | 207621838 | Human | | name |
| 597679036 | CV3553509 | single nucleotide variant | NM_001127395.5(METTL21A):c.284G>A (p.Arg95Gln) | not specified [RCV004830624] | uncertain significance | 2 | 207613419 | 207613419 | Human | | name |
| 597682025 | CV3553533 | single nucleotide variant | NM_001080510.5(METTL23):c.391A>G (p.Thr131Ala) | Inborn genetic diseases [RCV004952060] | uncertain significance | 17 | 76733361 | 76733361 | Human | 1 | name |
| 597679209 | CV3553535 | single nucleotide variant | NM_001123364.3(METTL24):c.692A>G (p.Asp231Gly) | not specified [RCV004830643] | uncertain significance | 6 | 110299016 | 110299016 | Human | | name |
| 597635054 | CV3553536 | single nucleotide variant | NM_001123364.3(METTL24):c.503G>T (p.Arg168Met) | not specified [RCV004824272] | uncertain significance | 6 | 110315396 | 110315396 | Human | | name |
| 597679218 | CV3553537 | single nucleotide variant | NM_001123364.3(METTL24):c.311G>T (p.Arg104Leu) | not specified [RCV004830644] | uncertain significance | 6 | 110357962 | 110357962 | Human | | name |
| 597679226 | CV3553538 | single nucleotide variant | NM_001123364.3(METTL24):c.704C>A (p.Pro235His) | not specified [RCV004830645] | uncertain significance | 6 | 110299004 | 110299004 | Human | | name |
| 597635060 | CV3553539 | single nucleotide variant | NM_001123364.3(METTL24):c.524T>C (p.Ile175Thr) | not specified [RCV004824273] | uncertain significance | 6 | 110315375 | 110315375 | Human | | name |
| 598251952 | CV3982092 | single nucleotide variant | NM_001010977.3(METTL21C):c.258T>A (p.Ser86Arg) | not specified [RCV005366922] | uncertain significance | 13 | 102690837 | 102690837 | Human | | name |
| 598252280 | CV3982102 | single nucleotide variant | NM_001080510.5(METTL23):c.367A>G (p.Asn123Asp) | Inborn genetic diseases [RCV005366927] | uncertain significance | 17 | 76733337 | 76733337 | Human | 1 | name |
| 598252267 | CV3982104 | single nucleotide variant | NM_001123364.3(METTL24):c.509A>G (p.Asn170Ser) | not specified [RCV005366929] | uncertain significance | 6 | 110315390 | 110315390 | Human | | name |
| 598252255 | CV3982106 | single nucleotide variant | NM_001123364.3(METTL24):c.362C>T (p.Ala121Val) | not specified [RCV005366931] | uncertain significance | 6 | 110322829 | 110322829 | Human | | name |
| 598252249 | CV3982107 | single nucleotide variant | NM_001123364.3(METTL24):c.685T>C (p.Ser229Pro) | not specified [RCV005366932] | uncertain significance | 6 | 110299023 | 110299023 | Human | | name |
| 617154294 | CV4022746 | single nucleotide variant | NM_001080510.5(METTL23):c.302A>T (p.Asp101Val) | Intellectual disability, autosomal recessive 44 [RCV005430097] | uncertain significance | 17 | 76733195 | 76733195 | Human | 1 | name |
| 12905862 | CV413479 | single nucleotide variant | NM_001080510.5(METTL23):c.569T>C (p.Leu190Pro) | not provided [RCV000488094] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 17 | 76733682 | 76733682 | Human | | name |
| 13215998 | CV430016 | single nucleotide variant | NM_001080510.5(METTL23):c.348A>G (p.Ile116Met) | Inborn genetic diseases [RCV004023386]|not specified [RCV000503090] | uncertain significance | 17 | 76733318 | 76733318 | Human | 1 | name |
| 13532393 | CV512327 | single nucleotide variant | NM_001080510.5(METTL23):c.493G>T (p.Glu165Ter) | Inborn genetic diseases [RCV000624155] | uncertain significance | 17 | 76733606 | 76733606 | Human | 1 | name |
| 8636362 | CV91585 | single nucleotide variant | NM_001080510.5(METTL23):c.514C>T (p.Leu172Phe) | not provided [RCV001768848] | uncertain significance|not provided | 17 | 76733627 | 76733627 | Human | | name |
| 156028821 | CV2205856 | single nucleotide variant | NM_001010977.3(METTL21C):c.327G>C (p.Leu109Phe) | not specified [RCV004076249] | uncertain significance | 13 | 102687013 | 102687013 | Human | | name |
| 156401380 | CV2207121 | single nucleotide variant | NM_001010977.3(METTL21C):c.782T>G (p.Leu261Arg) | not specified [RCV004086071] | uncertain significance | 13 | 102686044 | 102686044 | Human | | name |
| 156053366 | CV2269491 | single nucleotide variant | NM_001127395.5(METTL21A):c.400C>T (p.Pro134Ser) | not specified [RCV004124604] | uncertain significance | 2 | 207613303 | 207613303 | Human | | name |
| 156012581 | CV2291273 | single nucleotide variant | NM_001010977.3(METTL21C):c.364G>A (p.Gly122Arg) | not specified [RCV004153557] | uncertain significance | 13 | 102686976 | 102686976 | Human | | name |
| 156148877 | CV2321820 | single nucleotide variant | NM_001010977.3(METTL21C):c.779T>C (p.Ile260Thr) | not specified [RCV004179806] | likely benign | 13 | 102686047 | 102686047 | Human | | name |
| 156265163 | CV2329510 | single nucleotide variant | NM_001127395.5(METTL21A):c.463C>G (p.Leu155Val) | not specified [RCV004180644] | uncertain significance | 2 | 207613240 | 207613240 | Human | | name |
| 155925464 | CV2365585 | single nucleotide variant | NM_001010977.3(METTL21C):c.682A>G (p.Ser228Gly) | not specified [RCV004212106] | uncertain significance | 13 | 102686144 | 102686144 | Human | | name |
| 401731437 | CV2693803 | single nucleotide variant | NM_001010977.3(METTL21C):c.319G>A (p.Glu107Lys) | not specified [RCV004298118] | uncertain significance | 13 | 102687021 | 102687021 | Human | | name |
| 401864865 | CV2778095 | single nucleotide variant | NM_001010977.3(METTL21C):c.359G>A (p.Gly120Asp) | not specified [RCV004348041] | uncertain significance | 13 | 102686981 | 102686981 | Human | | name |
| 401891802 | CV2779454 | single nucleotide variant | NM_001010977.3(METTL21C):c.787T>C (p.Trp263Arg) | not specified [RCV004351089] | uncertain significance | 13 | 102686039 | 102686039 | Human | | name |
| 401888134 | CV2791269 | single nucleotide variant | NM_001127395.5(METTL21A):c.316G>A (p.Val106Ile) | not specified [RCV004356899] | uncertain significance | 2 | 207613387 | 207613387 | Human | | name |
| 405694806 | CV3282179 | single nucleotide variant | NM_001127395.5(METTL21A):c.310T>G (p.Ser104Ala) | not specified [RCV004424331] | uncertain significance | 2 | 207613393 | 207613393 | Human | | name |
| 405694812 | CV3282180 | single nucleotide variant | NM_001127395.5(METTL21A):c.316G>C (p.Val106Leu) | not specified [RCV004424332] | uncertain significance | 2 | 207613387 | 207613387 | Human | | name |
| 405694819 | CV3282181 | single nucleotide variant | NM_001127395.5(METTL21A):c.536G>A (p.Arg179Gln) | not specified [RCV004424333] | uncertain significance | 2 | 207613167 | 207613167 | Human | | name |
| 405694825 | CV3282182 | single nucleotide variant | NM_001010977.3(METTL21C):c.316G>A (p.Ala106Thr) | not specified [RCV004424334] | likely benign | 13 | 102687024 | 102687024 | Human | | name |
| 405694830 | CV3282183 | single nucleotide variant | NM_001010977.3(METTL21C):c.586G>A (p.Val196Ile) | not specified [RCV004424335] | uncertain significance | 13 | 102686240 | 102686240 | Human | | name |
| 405694835 | CV3282184 | single nucleotide variant | NM_001010977.3(METTL21C):c.635T>C (p.Leu212Pro) | not specified [RCV004424336] | uncertain significance | 13 | 102686191 | 102686191 | Human | | name |
| 405694840 | CV3282185 | single nucleotide variant | NM_001010977.3(METTL21C):c.754T>C (p.Ser252Pro) | not specified [RCV004424337] | uncertain significance | 13 | 102686072 | 102686072 | Human | | name |
| 407503254 | CV3450080 | single nucleotide variant | NM_001127395.5(METTL21A):c.545A>G (p.Asn182Ser) | not specified [RCV004645414] | uncertain significance | 2 | 207613158 | 207613158 | Human | | name |
| 407503258 | CV3450081 | single nucleotide variant | NM_001127395.5(METTL21A):c.624A>C (p.Glu208Asp) | not specified [RCV004645415] | uncertain significance | 2 | 207613079 | 207613079 | Human | | name |
| 407503267 | CV3450085 | single nucleotide variant | NM_001010977.3(METTL21C):c.688G>A (p.Asp230Asn) | not specified [RCV004645418] | uncertain significance | 13 | 102686138 | 102686138 | Human | | name |
| 597635028 | CV3553510 | single nucleotide variant | NM_001127395.5(METTL21A):c.560T>C (p.Leu187Pro) | not specified [RCV004824267] | uncertain significance | 2 | 207613143 | 207613143 | Human | | name |
| 597679044 | CV3553511 | single nucleotide variant | NM_001010977.3(METTL21C):c.382A>T (p.Ile128Phe) | not specified [RCV004830625] | uncertain significance | 13 | 102686958 | 102686958 | Human | | name |
| 597679056 | CV3553512 | single nucleotide variant | NM_001010977.3(METTL21C):c.456T>A (p.Asn152Lys) | not specified [RCV004830626] | uncertain significance | 13 | 102686370 | 102686370 | Human | | name |
| 597679064 | CV3553513 | single nucleotide variant | NM_001010977.3(METTL21C):c.529G>A (p.Asp177Asn) | not specified [RCV004830627] | uncertain significance | 13 | 102686297 | 102686297 | Human | | name |
| 597679072 | CV3553514 | single nucleotide variant | NM_001010977.3(METTL21C):c.487C>T (p.His163Tyr) | not specified [RCV004830628] | uncertain significance | 13 | 102686339 | 102686339 | Human | | name |
| 598226498 | CV3982088 | single nucleotide variant | NM_001127395.5(METTL21A):c.367C>G (p.Leu123Val) | not specified [RCV005380565] | uncertain significance | 2 | 207613336 | 207613336 | Human | | name |
| 598251947 | CV3982089 | single nucleotide variant | NM_001127395.5(METTL21A):c.643A>G (p.Lys215Glu) | not specified [RCV005366921] | uncertain significance | 2 | 207613060 | 207613060 | Human | | name |
| 598226485 | CV3982091 | single nucleotide variant | NM_001010977.3(METTL21C):c.356T>C (p.Ile119Thr) | not specified [RCV005380567] | uncertain significance | 13 | 102686984 | 102686984 | Human | | name |
| 598226478 | CV3982093 | single nucleotide variant | NM_001010977.3(METTL21C):c.301T>C (p.Tyr101His) | not specified [RCV005380568] | uncertain significance | 13 | 102687039 | 102687039 | Human | | name |
| 15108721 | CV713810 | duplication | NM_001010977.3(METTL21C):c.771dup (p.Lys258Ter) | not provided [RCV000960545] | likely benign | 13 | 102686054 | 102686055 | Human | | name |
| 127244884 | CV1064405 | duplication | NM_001080510.5(METTL23):c.149_150dup (p.Asp51fs) | not provided [RCV001384262] | pathogenic | 17 | 76733041 | 76733042 | Human | | name |
| 150487963 | CV1208182 | deletion | NM_001080510.5(METTL23):c.139_142del (p.Val47fs) | not provided [RCV001592042] | uncertain significance | 17 | 76733030 | 76733033 | Human | | name |
| 9481100 | CV153754 | deletion | NM_001080510.5(METTL23):c.169_172del (p.His57fs) | Inborn genetic diseases [RCV000622976]|Intellectual disability [RCV004798784]|Intellectual disability, autosomal recessive 44 [RCV000133532]|not provided [RCV000598829] | pathogenic|likely pathogenic | 17 | 76733060 | 76733063 | Human | 4 | name |
| 9481101 | CV153755 | deletion | NM_001080510.5(METTL23):c.282_286del (p.Gln94fs) | Intellectual disability, autosomal recessive 44 [RCV000133533] | pathogenic | 17 | 76733174 | 76733178 | Human | 1 | name |
| 405003915 | CV3184514 | deletion | NM_001080510.5(METTL23):c.204_207del (p.Met68fs) | Intellectual disability, autosomal recessive 44 [RCV003883303] | likely pathogenic | 17 | 76733094 | 76733097 | Human | 1 | name |
| 408367665 | CV3500212 | microsatellite | NM_001080510.5(METTL23):c.285TAT[1] (p.Ile97del) | not provided [RCV004722255] | likely pathogenic | 17 | 76733178 | 76733180 | Human | | name |
| 13533111 | CV512326 | microsatellite | NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del) | Inborn genetic diseases [RCV000624880]|Intellectual disability, autosomal recessive 44 [RCV003222062]|not provided [RCV002060687] | conflicting interpretations of pathogenicity|uncertain significance | 17 | 76733166 | 76733168 | Human | | name |
| 40887004 | CV974101 | deletion | NM_001080510.5(METTL23):c.174_177del (p.Cys58fs) | Inborn genetic diseases [RCV001266370]|Intellectual disability, autosomal recessive 44 [RCV001375998]|not provided [RCV001383867] | pathogenic|likely pathogenic | 17 | 76733064 | 76733067 | Human | 2 | name |
| 156185924 | CV1867221 | deletion | NM_001080510.5(METTL23):c.434_438del (p.Leu145fs) | Intellectual disability [RCV004798946]|not provided [RCV002508867] | pathogenic|likely pathogenic | 17 | 76733544 | 76733548 | Human | 2 | name |
| 12742403 | CV360333 | duplication | NM_001080510.5(METTL23):c.536_545dup (p.Ile183fs) | not provided [RCV000413581] | likely pathogenic | 17 | 76733648 | 76733649 | Human | | name |
| 12895531 | CV410251 | deletion | NM_001080510.5(METTL23):c.470_471del (p.Leu157fs) | Intellectual disability, autosomal recessive 44 [RCV005252912]|not provided [RCV000486806] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 17 | 76733583 | 76733584 | Human | 1 | name |
| 13214100 | CV430017 | deletion | NM_001080510.5(METTL23):c.492_495del (p.Glu165fs) | not specified [RCV000500846] | uncertain significance | 17 | 76733603 | 76733606 | Human | | name |