| 8587464 | CV122092 | single nucleotide variant | NM_025184.3(EFHC2):c.43-7626C>G | Lung cancer [RCV000102612] | uncertain significance | X | 44320382 | 44320382 | Human | | name |
| 8587465 | CV122093 | single nucleotide variant | NM_025184.3(EFHC2):c.42+5982G>A | Lung cancer [RCV000102613] | uncertain significance | X | 44337565 | 44337565 | Human | | name |
| 156375019 | CV2204970 | single nucleotide variant | NM_025184.4(EFHC2):c.85T>C (p.Cys29Arg) | not specified [RCV004077592] | uncertain significance | X | 44312714 | 44312714 | Human | | name |
| 401926814 | CV2821555 | single nucleotide variant | NM_025184.4(EFHC2):c.960C>T (p.Phe320=) | not provided [RCV003438139] | likely benign | X | 44248815 | 44248815 | Human | | name |
| 401926815 | CV2821556 | single nucleotide variant | NM_025184.4(EFHC2):c.417G>A (p.Pro139=) | not provided [RCV003438140] | likely benign | X | 44261264 | 44261264 | Human | | name |
| 156100342 | CV2294703 | single nucleotide variant | NM_025184.4(EFHC2):c.268C>T (p.Leu90Phe) | not specified [RCV004161947] | uncertain significance | X | 44272800 | 44272800 | Human | | name |
| 401894280 | CV2780585 | single nucleotide variant | NM_025184.4(EFHC2):c.131G>A (p.Gly44Asp) | not specified [RCV004351955] | uncertain significance | X | 44312668 | 44312668 | Human | | name |
| 401926810 | CV2821552 | single nucleotide variant | NM_025184.4(EFHC2):c.2160T>C (p.Asp720=) | not provided [RCV003438136] | likely benign | X | 44148885 | 44148885 | Human | | name |
| 401926811 | CV2821553 | single nucleotide variant | NM_025184.4(EFHC2):c.1539G>A (p.Thr513=) | not provided [RCV003438137] | likely benign | X | 44232562 | 44232562 | Human | | name |
| 404990702 | CV2850039 | single nucleotide variant | NM_025184.4(EFHC2):c.138A>T (p.Glu46Asp) | not provided [RCV003490736] | uncertain significance | X | 44312661 | 44312661 | Human | | name |
| 597646248 | CV3664313 | single nucleotide variant | NM_025184.4(EFHC2):c.196A>C (p.Ser66Arg) | not specified [RCV004909878] | uncertain significance | X | 44312603 | 44312603 | Human | | name |
| 15159719 | CV717790 | single nucleotide variant | NM_025184.4(EFHC2):c.170G>A (p.Cys57Tyr) | Ornithine carbamoyltransferase deficiency [RCV003327298]|not provided [RCV000969762] | benign|uncertain significance | X | 44312629 | 44312629 | Human | 1 | name |
| 150409380 | CV1196365 | single nucleotide variant | NM_025184.4(EFHC2):c.625C>T (p.Pro209Ser) | not provided [RCV001572644] | uncertain significance | X | 44250427 | 44250427 | Human | | name |
| 9692908 | CV177312 | single nucleotide variant | NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln) | X-linked intellectual disability [RCV001258312]|not provided [RCV000153190] | benign|uncertain significance | X | 44261277 | 44261277 | Human | 2 | name |
| 155963242 | CV2197820 | single nucleotide variant | NM_025184.4(EFHC2):c.463G>A (p.Gly155Ser) | not specified [RCV004077059] | uncertain significance | X | 44261218 | 44261218 | Human | | name |
| 156078498 | CV2300823 | single nucleotide variant | NM_025184.4(EFHC2):c.725T>C (p.Met242Thr) | not specified [RCV004158036] | uncertain significance | X | 44250327 | 44250327 | Human | | name |
| 156208004 | CV2308074 | single nucleotide variant | NM_025184.4(EFHC2):c.305A>G (p.Tyr102Cys) | not specified [RCV004170498] | uncertain significance | X | 44272763 | 44272763 | Human | | name |
| 156303878 | CV2308497 | single nucleotide variant | NM_025184.4(EFHC2):c.632G>A (p.Arg211His) | not specified [RCV004166782] | uncertain significance | X | 44250420 | 44250420 | Human | | name |
| 155974541 | CV2317969 | single nucleotide variant | NM_025184.4(EFHC2):c.599G>A (p.Arg200Gln) | not specified [RCV004177089] | uncertain significance | X | 44261082 | 44261082 | Human | | name |
| 156068415 | CV2320426 | single nucleotide variant | NM_025184.4(EFHC2):c.574C>A (p.Pro192Thr) | not specified [RCV004178576] | uncertain significance | X | 44261107 | 44261107 | Human | | name |
| 329372724 | CV2451621 | single nucleotide variant | NM_025184.4(EFHC2):c.346A>G (p.Asn116Asp) | not specified [RCV004274544] | uncertain significance | X | 44272722 | 44272722 | Human | | name |
| 401769516 | CV2689805 | single nucleotide variant | NM_025184.4(EFHC2):c.304T>C (p.Tyr102His) | not specified [RCV004297709] | uncertain significance | X | 44272764 | 44272764 | Human | | name |
| 401726191 | CV2695597 | single nucleotide variant | NM_025184.4(EFHC2):c.487C>T (p.Arg163Trp) | not specified [RCV004299418] | uncertain significance | X | 44261194 | 44261194 | Human | | name |
| 401855405 | CV2757309 | single nucleotide variant | NM_025184.4(EFHC2):c.418C>G (p.Pro140Ala) | not specified [RCV004340718] | uncertain significance | X | 44261263 | 44261263 | Human | | name |
| 401884507 | CV2761775 | single nucleotide variant | NM_025184.4(EFHC2):c.949G>A (p.Gly317Ser) | not specified [RCV004339426] | uncertain significance | X | 44248826 | 44248826 | Human | | name |
| 405715882 | CV3241650 | single nucleotide variant | NM_025184.4(EFHC2):c.625C>G (p.Pro209Ala) | not specified [RCV004377387] | uncertain significance | X | 44250427 | 44250427 | Human | | name |
| 405715888 | CV3241651 | single nucleotide variant | NM_025184.4(EFHC2):c.812G>A (p.Gly271Asp) | not specified [RCV004377388] | uncertain significance | X | 44250240 | 44250240 | Human | | name |
| 407497833 | CV3441760 | single nucleotide variant | NM_025184.4(EFHC2):c.685A>G (p.Ile229Val) | not specified [RCV004622307] | likely benign | X | 44250367 | 44250367 | Human | | name |
| 597736498 | CV3664314 | single nucleotide variant | NM_025184.4(EFHC2):c.619G>A (p.Val207Ile) | not specified [RCV004920647] | uncertain significance | X | 44250433 | 44250433 | Human | | name |
| 597646021 | CV3664315 | single nucleotide variant | NM_025184.4(EFHC2):c.955C>G (p.Leu319Val) | not specified [RCV004909879] | uncertain significance | X | 44248820 | 44248820 | Human | | name |
| 597736503 | CV3664316 | single nucleotide variant | NM_025184.4(EFHC2):c.674A>G (p.Tyr225Cys) | not specified [RCV004920648] | uncertain significance | X | 44250378 | 44250378 | Human | | name |
| 597645869 | CV3664319 | single nucleotide variant | NM_025184.4(EFHC2):c.307A>G (p.Lys103Glu) | not specified [RCV004909882] | uncertain significance | X | 44272761 | 44272761 | Human | | name |
| 597645883 | CV3664321 | single nucleotide variant | NM_025184.4(EFHC2):c.398G>A (p.Arg133His) | not specified [RCV004909884] | uncertain significance | X | 44261283 | 44261283 | Human | | name |
| 597645889 | CV3664322 | single nucleotide variant | NM_025184.4(EFHC2):c.920A>G (p.Tyr307Cys) | not specified [RCV004909885] | uncertain significance | X | 44248855 | 44248855 | Human | | name |
| 598167335 | CV3964855 | single nucleotide variant | NM_025184.4(EFHC2):c.401A>G (p.His134Arg) | not specified [RCV005330031] | uncertain significance | X | 44261280 | 44261280 | Human | | name |
| 598167341 | CV3964856 | single nucleotide variant | NM_025184.4(EFHC2):c.914A>G (p.Asn305Ser) | not specified [RCV005330032] | uncertain significance | X | 44248861 | 44248861 | Human | | name |
| 598167360 | CV3964859 | single nucleotide variant | NM_025184.4(EFHC2):c.403C>T (p.Arg135Trp) | not specified [RCV005330035] | uncertain significance | X | 44261278 | 44261278 | Human | | name |
| 598167366 | CV3964860 | single nucleotide variant | NM_025184.4(EFHC2):c.431A>G (p.Asp144Gly) | not specified [RCV005330036] | uncertain significance | X | 44261250 | 44261250 | Human | | name |
| 150550433 | CV1308138 | single nucleotide variant | NM_025184.4(EFHC2):c.1516G>A (p.Glu506Lys) | not provided [RCV001753128] | likely benign | X | 44232585 | 44232585 | Human | | name |
| 10047684 | CV190908 | single nucleotide variant | NM_025184.4(EFHC2):c.1519G>C (p.Glu507Gln) | not provided [RCV004713396]|not specified [RCV000173904] | benign | X | 44232582 | 44232582 | Human | | name |
| 156370125 | CV2204120 | single nucleotide variant | NM_025184.4(EFHC2):c.1138C>T (p.Pro380Ser) | not specified [RCV004076930] | uncertain significance | X | 44242263 | 44242263 | Human | | name |
| 155989901 | CV2258871 | single nucleotide variant | NM_025184.4(EFHC2):c.1565G>A (p.Arg522His) | not specified [RCV004118081] | uncertain significance | X | 44232536 | 44232536 | Human | | name |
| 156285691 | CV2345603 | single nucleotide variant | NM_025184.4(EFHC2):c.1574A>G (p.Asn525Ser) | not specified [RCV004205556] | uncertain significance | X | 44232527 | 44232527 | Human | | name |
| 329374360 | CV2434789 | single nucleotide variant | NM_025184.4(EFHC2):c.2063A>G (p.Gln688Arg) | not specified [RCV004248484] | uncertain significance | X | 44164007 | 44164007 | Human | | name |
| 329352714 | CV2470363 | single nucleotide variant | NM_025184.4(EFHC2):c.1235C>T (p.Pro412Leu) | not specified [RCV004279746] | uncertain significance | X | 44242166 | 44242166 | Human | | name |
| 401733387 | CV2685511 | single nucleotide variant | NM_025184.4(EFHC2):c.1410A>G (p.Ile470Met) | not provided [RCV005412530]|not specified [RCV004294531] | likely benign|uncertain significance | X | 44235318 | 44235318 | Human | | name |
| 401733622 | CV2713156 | single nucleotide variant | NM_025184.4(EFHC2):c.2226C>A (p.Asp742Glu) | not specified [RCV004316704] | uncertain significance | X | 44148819 | 44148819 | Human | | name |
| 401855785 | CV2757438 | single nucleotide variant | NM_025184.4(EFHC2):c.2241G>C (p.Glu747Asp) | not specified [RCV004340832] | uncertain significance | X | 44148804 | 44148804 | Human | | name |
| 401926812 | CV2821554 | single nucleotide variant | NM_025184.4(EFHC2):c.1408A>G (p.Ile470Val) | not provided [RCV003438138] | likely benign | X | 44235320 | 44235320 | Human | | name |
| 405715830 | CV3241642 | single nucleotide variant | NM_025184.4(EFHC2):c.1079C>T (p.Thr360Met) | not specified [RCV004377379] | uncertain significance | X | 44248304 | 44248304 | Human | | name |
| 405715836 | CV3241643 | single nucleotide variant | NM_025184.4(EFHC2):c.1105G>A (p.Gly369Arg) | not specified [RCV004377380] | uncertain significance | X | 44248278 | 44248278 | Human | | name |
| 405715843 | CV3241644 | single nucleotide variant | NM_025184.4(EFHC2):c.1148C>T (p.Pro383Leu) | not specified [RCV004377381] | uncertain significance | X | 44242253 | 44242253 | Human | | name |
| 405715850 | CV3241645 | single nucleotide variant | NM_025184.4(EFHC2):c.1232A>G (p.Lys411Arg) | not specified [RCV004377382] | uncertain significance | X | 44242169 | 44242169 | Human | | name |
| 405715857 | CV3241646 | single nucleotide variant | NM_025184.4(EFHC2):c.1822C>T (p.Arg608Cys) | not specified [RCV004377383] | uncertain significance | X | 44178494 | 44178494 | Human | | name |
| 405715861 | CV3241647 | single nucleotide variant | NM_025184.4(EFHC2):c.1823G>A (p.Arg608His) | not specified [RCV004377384] | uncertain significance | X | 44178493 | 44178493 | Human | | name |
| 405715867 | CV3241648 | single nucleotide variant | NM_025184.4(EFHC2):c.2089G>T (p.Ala697Ser) | not specified [RCV004377385] | uncertain significance | X | 44163981 | 44163981 | Human | | name |
| 405715872 | CV3241649 | single nucleotide variant | NM_025184.4(EFHC2):c.2129C>T (p.Pro710Leu) | not specified [RCV004377386] | uncertain significance | X | 44163941 | 44163941 | Human | | name |
| 405854728 | CV3394843 | single nucleotide variant | NM_025184.4(EFHC2):c.1574A>T (p.Asn525Ile) | not provided [RCV004554984] | uncertain significance | X | 44232527 | 44232527 | Human | | name |
| 407497825 | CV3441758 | single nucleotide variant | NM_025184.4(EFHC2):c.1214G>A (p.Arg405His) | not specified [RCV004622305] | uncertain significance | X | 44242187 | 44242187 | Human | | name |
| 407497829 | CV3441759 | single nucleotide variant | NM_025184.4(EFHC2):c.1846G>A (p.Asp616Asn) | not specified [RCV004622306] | uncertain significance | X | 44178470 | 44178470 | Human | | name |
| 407497837 | CV3441761 | single nucleotide variant | NM_025184.4(EFHC2):c.1390A>T (p.Ile464Phe) | not specified [RCV004622308] | uncertain significance | X | 44235338 | 44235338 | Human | | name |
| 597645862 | CV3664318 | single nucleotide variant | NM_025184.4(EFHC2):c.1392T>G (p.Ile464Met) | not specified [RCV004909881] | uncertain significance | X | 44235336 | 44235336 | Human | | name |
| 597645875 | CV3664320 | single nucleotide variant | NM_025184.4(EFHC2):c.1390A>G (p.Ile464Val) | not specified [RCV004909883] | uncertain significance | X | 44235338 | 44235338 | Human | | name |
| 597645897 | CV3664323 | single nucleotide variant | NM_025184.4(EFHC2):c.1384G>T (p.Asp462Tyr) | not specified [RCV004909886] | uncertain significance | X | 44235344 | 44235344 | Human | | name |
| 598167347 | CV3964857 | single nucleotide variant | NM_025184.4(EFHC2):c.2113G>A (p.Val705Met) | not specified [RCV005330033] | likely benign | X | 44163957 | 44163957 | Human | | name |
| 598167353 | CV3964858 | single nucleotide variant | NM_025184.4(EFHC2):c.1213C>T (p.Arg405Cys) | not specified [RCV005330034] | uncertain significance | X | 44242188 | 44242188 | Human | | name |
| 598167373 | CV3964861 | single nucleotide variant | NM_025184.4(EFHC2):c.1538C>T (p.Thr513Met) | not specified [RCV005330037] | uncertain significance | X | 44232563 | 44232563 | Human | | name |
| 598167378 | CV3964862 | single nucleotide variant | NM_025184.4(EFHC2):c.1813C>T (p.Arg605Cys) | not specified [RCV005330038] | uncertain significance | X | 44178503 | 44178503 | Human | | name |
| 598167385 | CV3964863 | single nucleotide variant | NM_025184.4(EFHC2):c.1440G>A (p.Met480Ile) | not specified [RCV005330039] | uncertain significance | X | 44232661 | 44232661 | Human | | name |
| 598167391 | CV3964864 | single nucleotide variant | NM_025184.4(EFHC2):c.1034A>G (p.Asn345Ser) | not specified [RCV005330040] | uncertain significance | X | 44248349 | 44248349 | Human | | name |
| 598167397 | CV3964865 | single nucleotide variant | NM_025184.4(EFHC2):c.1006A>C (p.Ser336Arg) | not specified [RCV005330041] | uncertain significance | X | 44248377 | 44248377 | Human | | name |