| 153349558 | CV1693574 | single nucleotide variant | NM_014865.4(NCAPD2):c.839+7C>T | not provided [RCV002275974] | likely benign | 12 | 6514594 | 6514594 | Human | | name |
| 155802775 | CV1857770 | single nucleotide variant | NM_014865.4(NCAPD2):c.-23-1G>A | not provided [RCV002461619] | uncertain significance | 12 | 6495075 | 6495075 | Human | | name |
| 13706045 | CV537184 | single nucleotide variant | NM_014865.4(NCAPD2):c.445-1G>T | not provided [RCV000658633] | likely pathogenic | 12 | 6511109 | 6511109 | Human | | name |
| 150528590 | CV1288394 | single nucleotide variant | NM_014865.4(NCAPD2):c.2735-6C>T | Inborn genetic diseases [RCV002538681]|not provided [RCV001726862] | uncertain significance | 12 | 6526885 | 6526885 | Human | 1 | name |
| 150535957 | CV1312123 | single nucleotide variant | NM_014865.4(NCAPD2):c.127+27C>T | Microcephaly 21, primary, autosomal recessive [RCV001779936]|not provided [RCV004707710] | benign | 12 | 6495252 | 6495252 | Human | 1 | name |
| 155644730 | CV1710365 | single nucleotide variant | NM_014865.4(NCAPD2):c.3964+2T>C | not provided [RCV002293661] | pathogenic | 12 | 6530819 | 6530819 | Human | | name |
| 155923771 | CV2217712 | single nucleotide variant | NM_014865.4(NCAPD2):c.3654-5T>A | Inborn genetic diseases [RCV002683221] | uncertain significance | 12 | 6529770 | 6529770 | Human | 1 | name |
| 156255717 | CV2219693 | single nucleotide variant | NM_014865.4(NCAPD2):c.2482-6C>T | Inborn genetic diseases [RCV002702718] | uncertain significance | 12 | 6526281 | 6526281 | Human | 1 | name |
| 156383985 | CV2220257 | single nucleotide variant | NM_014865.4(NCAPD2):c.3964+5G>A | Inborn genetic diseases [RCV002723120] | uncertain significance | 12 | 6530822 | 6530822 | Human | 1 | name |
| 405274550 | CV3208869 | single nucleotide variant | NM_014865.4(NCAPD2):c.3654-6C>T | NCAPD2-related disorder [RCV003951666] | likely benign | 12 | 6529769 | 6529769 | Human | | name , trait , alternate_id |
| 13606497 | CV514850 | single nucleotide variant | NM_014865.4(NCAPD2):c.4120+2T>C | Microcephaly 21, primary, autosomal recessive [RCV000627677] | pathogenic | 12 | 6531078 | 6531078 | Human | 1 | name |
| 13706046 | CV537185 | single nucleotide variant | NM_014865.4(NCAPD2):c.1954+1G>A | Microcephaly 21, primary, autosomal recessive [RCV004768514]|not provided [RCV000658634] | likely pathogenic|conflicting interpretations of pathogenicity | 12 | 6522038 | 6522038 | Human | 1 | name |
| 15106740 | CV760244 | single nucleotide variant | NM_014865.4(NCAPD2):c.2349-8T>C | not provided [RCV000915812] | likely benign | 12 | 6526060 | 6526060 | Human | | name |
| 15169949 | CV778115 | single nucleotide variant | NM_014865.4(NCAPD2):c.1185+8A>G | not provided [RCV000949559] | benign | 12 | 6517033 | 6517033 | Human | | name |
| 150535960 | CV1312125 | single nucleotide variant | NM_014865.4(NCAPD2):c.2566+30A>T | Microcephaly 21, primary, autosomal recessive [RCV001779938]|not provided [RCV004707711] | benign | 12 | 6526401 | 6526401 | Human | 1 | name |
| 150535964 | CV1312128 | single nucleotide variant | NM_014865.4(NCAPD2):c.3573-13C>T | Microcephaly 21, primary, autosomal recessive [RCV001779941]|not provided [RCV004707713] | benign | 12 | 6529500 | 6529500 | Human | 1 | name |
| 405258795 | CV3203943 | single nucleotide variant | NM_014865.4(NCAPD2):c.1590-10G>A | NCAPD2-related disorder [RCV003942100] | likely benign | 12 | 6520976 | 6520976 | Human | | name , trait , alternate_id |
| 405285297 | CV3212341 | microsatellite | NM_014865.4(NCAPD2):c.988-12TC[3] | NCAPD2-related disorder [RCV003958957] | likely benign | 12 | 6516816 | 6516817 | Human | | name , trait , alternate_id |
| 155977876 | CV2214927 | single nucleotide variant | NM_014865.4(NCAPD2):c.8C>A (p.Pro3His) | Inborn genetic diseases [RCV002688087]|NCAPD2-related disorder [RCV003946357] | likely benign | 12 | 6495106 | 6495106 | Human | 2 | name , trait , alternate_id |
| 156380923 | CV2218396 | single nucleotide variant | NM_014865.4(NCAPD2):c.5C>G (p.Ala2Gly) | Inborn genetic diseases [RCV002722491]|NCAPD2-related disorder [RCV003936640] | likely benign | 12 | 6495103 | 6495103 | Human | 2 | name , trait , alternate_id |
| 405280524 | CV3195530 | single nucleotide variant | NM_014865.4(NCAPD2):c.243T>C (p.Thr81=) | NCAPD2-related disorder [RCV003906775] | benign | 12 | 6510114 | 6510114 | Human | | name , trait , alternate_id |
| 155951052 | CV1936070 | single nucleotide variant | NM_014865.4(NCAPD2):c.564A>C (p.Ser188=) | not provided [RCV002511722] | benign | 12 | 6511229 | 6511229 | Human | | name |
| 15171967 | CV725232 | single nucleotide variant | NM_014865.4(NCAPD2):c.366T>C (p.Tyr122=) | not provided [RCV000883751] | benign | 12 | 6510732 | 6510732 | Human | | name |
| 150515737 | CV1227652 | single nucleotide variant | NM_014865.4(NCAPD2):c.1920C>A (p.Ile640=) | Microcephaly 21, primary, autosomal recessive [RCV001779271]|not provided [RCV001638926] | benign | 12 | 6522003 | 6522003 | Human | 1 | name |
| 150535958 | CV1312124 | single nucleotide variant | NM_014865.4(NCAPD2):c.247C>G (p.Gln83Glu) | Microcephaly 21, primary, autosomal recessive [RCV001779937]|not provided [RCV001847333] | benign | 12 | 6510118 | 6510118 | Human | 1 | name |
| 155268130 | CV1705272 | single nucleotide variant | NM_014865.4(NCAPD2):c.211C>T (p.Arg71Ter) | not provided [RCV002285877] | uncertain significance | 12 | 6510082 | 6510082 | Human | | name |
| 405286528 | CV3192820 | single nucleotide variant | NM_014865.4(NCAPD2):c.1344A>G (p.Gly448=) | NCAPD2-related disorder [RCV003981551] | likely benign | 12 | 6517619 | 6517619 | Human | | name , trait , alternate_id |
| 405287878 | CV3203463 | single nucleotide variant | NM_014865.4(NCAPD2):c.1026G>A (p.Ala342=) | NCAPD2-related disorder [RCV003924647] | likely benign | 12 | 6516866 | 6516866 | Human | | name , trait , alternate_id |
| 405290933 | CV3203567 | single nucleotide variant | NM_014865.4(NCAPD2):c.1653T>C (p.His551=) | NCAPD2-related disorder [RCV003927309] | likely benign | 12 | 6521049 | 6521049 | Human | | name , trait , alternate_id |
| 405282179 | CV3210362 | single nucleotide variant | NM_014865.4(NCAPD2):c.1695C>A (p.Ile565=) | NCAPD2-related disorder [RCV003907411] | benign | 12 | 6521091 | 6521091 | Human | | name , trait , alternate_id |
| 405284377 | CV3213701 | single nucleotide variant | NM_014865.4(NCAPD2):c.2682A>G (p.Ala894=) | NCAPD2-related disorder [RCV003922261] | likely benign | 12 | 6526563 | 6526563 | Human | | name , trait , alternate_id |
| 405795359 | CV3336454 | single nucleotide variant | NM_014865.4(NCAPD2):c.131T>C (p.Phe44Ser) | Inborn genetic diseases [RCV004475507] | uncertain significance | 12 | 6509720 | 6509720 | Human | 1 | name |
| 408377801 | CV3500834 | single nucleotide variant | NM_014865.4(NCAPD2):c.2283C>T (p.Thr761=) | not provided [RCV004722484] | benign | 12 | 6525651 | 6525651 | Human | | name |
| 596924711 | CV3532371 | single nucleotide variant | NM_014865.4(NCAPD2):c.189C>G (p.Ile63Met) | not provided [RCV004777482] | uncertain significance | 12 | 6509778 | 6509778 | Human | | name |
| 597720004 | CV3562251 | single nucleotide variant | NM_014865.4(NCAPD2):c.100A>G (p.Ile34Val) | Inborn genetic diseases [RCV004961394] | likely benign | 12 | 6495198 | 6495198 | Human | 1 | name |
| 598216569 | CV3983651 | single nucleotide variant | NM_014865.4(NCAPD2):c.157C>T (p.Pro53Ser) | Inborn genetic diseases [RCV005378934] | uncertain significance | 12 | 6509746 | 6509746 | Human | 1 | name |
| 598252834 | CV3983652 | single nucleotide variant | NM_014865.4(NCAPD2):c.128C>G (p.Ala43Gly) | Inborn genetic diseases [RCV005385234] | uncertain significance | 12 | 6509717 | 6509717 | Human | 1 | name |
| 598252844 | CV3983659 | single nucleotide variant | NM_014865.4(NCAPD2):c.115C>T (p.Pro39Ser) | Inborn genetic diseases [RCV005385237] | likely benign | 12 | 6495213 | 6495213 | Human | 1 | name |
| 15185418 | CV702471 | single nucleotide variant | NM_014865.4(NCAPD2):c.1278G>A (p.Gln426=) | not provided [RCV000952976] | benign | 12 | 6517457 | 6517457 | Human | | name |
| 126733057 | CV1000823 | single nucleotide variant | NM_014865.4(NCAPD2):c.3288T>C (p.His1096=) | NCAPD2-related disorder [RCV003908516]|not provided [RCV001310986] | likely benign | 12 | 6528317 | 6528317 | Human | 1 | name , trait , alternate_id |
| 150528588 | CV1288393 | single nucleotide variant | NM_014865.4(NCAPD2):c.649C>T (p.Arg217Cys) | not provided [RCV001726861] | uncertain significance | 12 | 6514326 | 6514326 | Human | | name |
| 150535961 | CV1312126 | single nucleotide variant | NM_014865.4(NCAPD2):c.3300T>C (p.Arg1100=) | Microcephaly 21, primary, autosomal recessive [RCV001779939]|not provided [RCV004709141] | benign | 12 | 6528679 | 6528679 | Human | 1 | name |
| 150535963 | CV1312127 | single nucleotide variant | NM_014865.4(NCAPD2):c.3483C>T (p.Asn1161=) | Microcephaly 21, primary, autosomal recessive [RCV001779940]|not provided [RCV004707712] | benign | 12 | 6528950 | 6528950 | Human | 1 | name |
| 150535966 | CV1312129 | single nucleotide variant | NM_014865.4(NCAPD2):c.3801A>G (p.Val1267=) | Microcephaly 21, primary, autosomal recessive [RCV001779942]|not provided [RCV004707714] | benign | 12 | 6529922 | 6529922 | Human | 1 | name |
| 151662999 | CV1330870 | deletion | NM_014865.4(NCAPD2):c.2508del (p.Phe837fs) | Microcephaly 21, primary, autosomal recessive [RCV001825047] | likely pathogenic | 12 | 6526307 | 6526307 | Human | 1 | name |
| 153304471 | CV1687087 | single nucleotide variant | NM_014865.4(NCAPD2):c.3195G>A (p.Lys1065=) | NCAPD2-related disorder [RCV003933723]|not provided [RCV002262375] | likely benign | 12 | 6528224 | 6528224 | Human | 1 | name , trait , alternate_id |
| 155951065 | CV1936071 | single nucleotide variant | NM_014865.4(NCAPD2):c.3531C>T (p.Pro1177=) | NCAPD2-related disorder [RCV003973413]|not provided [RCV002511723] | likely benign | 12 | 6528998 | 6528998 | Human | 1 | name , trait , alternate_id |
| 155900807 | CV2298014 | single nucleotide variant | NM_014865.4(NCAPD2):c.790C>G (p.Leu264Val) | Inborn genetic diseases [RCV002901037] | uncertain significance | 12 | 6514538 | 6514538 | Human | 1 | name |
| 156359610 | CV2328250 | single nucleotide variant | NM_014865.4(NCAPD2):c.898T>A (p.Phe300Ile) | Inborn genetic diseases [RCV002941139] | uncertain significance | 12 | 6514831 | 6514831 | Human | 1 | name |
| 156146407 | CV2397416 | deletion | NM_014865.4(NCAPD2):c.1384del (p.Ala462fs) | Inborn genetic diseases [RCV002763847] | pathogenic | 12 | 6517657 | 6517657 | Human | 1 | name |
| 401887569 | CV2773511 | single nucleotide variant | NM_014865.4(NCAPD2):c.388T>A (p.Ser130Thr) | Inborn genetic diseases [RCV003367235] | uncertain significance | 12 | 6510754 | 6510754 | Human | 1 | name |
| 401899034 | CV2785965 | single nucleotide variant | NM_014865.4(NCAPD2):c.620A>G (p.Glu207Gly) | Inborn genetic diseases [RCV003377194] | uncertain significance | 12 | 6514297 | 6514297 | Human | 1 | name |
| 401864790 | CV2791362 | single nucleotide variant | NM_014865.4(NCAPD2):c.875G>A (p.Arg292Gln) | Inborn genetic diseases [RCV003379130] | uncertain significance | 12 | 6514808 | 6514808 | Human | 1 | name |
| 405292605 | CV3192712 | single nucleotide variant | NM_014865.4(NCAPD2):c.3336G>A (p.Ala1112=) | NCAPD2-related disorder [RCV003964585] | likely benign | 12 | 6528715 | 6528715 | Human | | name , trait , alternate_id |
| 405796026 | CV3336662 | single nucleotide variant | NM_014865.4(NCAPD2):c.377G>A (p.Arg126His) | Inborn genetic diseases [RCV004475715] | uncertain significance | 12 | 6510743 | 6510743 | Human | 1 | name |
| 405796210 | CV3336721 | single nucleotide variant | NM_014865.4(NCAPD2):c.679C>T (p.Leu227Phe) | Inborn genetic diseases [RCV004475774] | uncertain significance | 12 | 6514356 | 6514356 | Human | 1 | name |
| 405796223 | CV3336726 | single nucleotide variant | NM_014865.4(NCAPD2):c.841G>A (p.Glu281Lys) | Inborn genetic diseases [RCV004475779] | uncertain significance | 12 | 6514774 | 6514774 | Human | 1 | name |
| 407521187 | CV3458289 | single nucleotide variant | NM_014865.4(NCAPD2):c.813G>A (p.Met271Ile) | Inborn genetic diseases [RCV004652446] | uncertain significance | 12 | 6514561 | 6514561 | Human | 1 | name |
| 407521202 | CV3458296 | single nucleotide variant | NM_014865.4(NCAPD2):c.821T>C (p.Ile274Thr) | Inborn genetic diseases [RCV004652452] | uncertain significance | 12 | 6514569 | 6514569 | Human | 1 | name |
| 597720032 | CV3562255 | single nucleotide variant | NM_014865.4(NCAPD2):c.465G>C (p.Lys155Asn) | Inborn genetic diseases [RCV004961398] | uncertain significance | 12 | 6511130 | 6511130 | Human | 1 | name |
| 597720036 | CV3562256 | single nucleotide variant | NM_014865.4(NCAPD2):c.655A>G (p.Thr219Ala) | Inborn genetic diseases [RCV004961399] | uncertain significance | 12 | 6514332 | 6514332 | Human | 1 | name |
| 597720059 | CV3562259 | single nucleotide variant | NM_014865.4(NCAPD2):c.846T>G (p.Ile282Met) | Inborn genetic diseases [RCV004961402] | uncertain significance | 12 | 6514779 | 6514779 | Human | 1 | name |
| 597720102 | CV3562265 | single nucleotide variant | NM_014865.4(NCAPD2):c.577G>A (p.Glu193Lys) | Inborn genetic diseases [RCV004961408] | uncertain significance | 12 | 6511242 | 6511242 | Human | 1 | name |
| 597720122 | CV3562267 | single nucleotide variant | NM_014865.4(NCAPD2):c.808G>A (p.Gly270Arg) | Inborn genetic diseases [RCV004961410] | uncertain significance | 12 | 6514556 | 6514556 | Human | 1 | name |
| 598128980 | CV3886783 | single nucleotide variant | NM_014865.4(NCAPD2):c.3000C>T (p.Cys1000=) | not provided [RCV005244443] | likely benign | 12 | 6527869 | 6527869 | Human | | name |
| 598252837 | CV3983653 | single nucleotide variant | NM_014865.4(NCAPD2):c.659G>A (p.Arg220Gln) | Inborn genetic diseases [RCV005385235] | uncertain significance | 12 | 6514336 | 6514336 | Human | 1 | name |
| 15117638 | CV713712 | single nucleotide variant | NM_014865.4(NCAPD2):c.3828T>G (p.Pro1276=) | not provided [RCV000962238] | benign | 12 | 6529949 | 6529949 | Human | | name |
| 15183608 | CV738835 | single nucleotide variant | NM_014865.4(NCAPD2):c.3738T>C (p.Asn1246=) | not provided [RCV000908096] | likely benign | 12 | 6529859 | 6529859 | Human | | name |
| 126726338 | CV1017676 | single nucleotide variant | NM_014865.4(NCAPD2):c.1166C>T (p.Thr389Ile) | Microcephaly 21, primary, autosomal recessive [RCV001331914] | uncertain significance | 12 | 6517006 | 6517006 | Human | 1 | name |
| 126726339 | CV1017677 | single nucleotide variant | NM_014865.4(NCAPD2):c.1526A>G (p.Asn509Ser) | Inborn genetic diseases [RCV005372647]|Microcephaly 21, primary, autosomal recessive [RCV001331915] | uncertain significance | 12 | 6517896 | 6517896 | Human | 2 | name |
| 155797452 | CV1860370 | single nucleotide variant | NM_014865.4(NCAPD2):c.1612G>C (p.Glu538Gln) | Inborn genetic diseases [RCV004067559]|NCAPD2-related disorder [RCV003961054]|not provided [RCV002467012] | likely benign|uncertain significance | 12 | 6521008 | 6521008 | Human | 2 | name , trait , alternate_id |
| 155917910 | CV2195572 | single nucleotide variant | NM_014865.4(NCAPD2):c.2223G>T (p.Glu741Asp) | Inborn genetic diseases [RCV002682413] | uncertain significance | 12 | 6525591 | 6525591 | Human | 1 | name |
| 156312124 | CV2196326 | single nucleotide variant | NM_014865.4(NCAPD2):c.1216G>A (p.Val406Met) | Inborn genetic diseases [RCV002648232] | uncertain significance | 12 | 6517395 | 6517395 | Human | 1 | name |
| 156165956 | CV2200863 | single nucleotide variant | NM_014865.4(NCAPD2):c.2699A>G (p.Lys900Arg) | Inborn genetic diseases [RCV002664448] | uncertain significance | 12 | 6526580 | 6526580 | Human | 1 | name |
| 155920479 | CV2215287 | single nucleotide variant | NM_014865.4(NCAPD2):c.2512C>T (p.Arg838Trp) | Inborn genetic diseases [RCV002727373] | uncertain significance | 12 | 6526317 | 6526317 | Human | 1 | name |
| 156380145 | CV2218065 | single nucleotide variant | NM_014865.4(NCAPD2):c.1769T>G (p.Val590Gly) | Inborn genetic diseases [RCV002678541] | likely benign | 12 | 6521852 | 6521852 | Human | 1 | name |
| 156126551 | CV2223692 | single nucleotide variant | NM_014865.4(NCAPD2):c.1220C>G (p.Ala407Gly) | Inborn genetic diseases [RCV002708186] | uncertain significance | 12 | 6517399 | 6517399 | Human | 1 | name |
| 156043325 | CV2237437 | single nucleotide variant | NM_014865.4(NCAPD2):c.1032G>A (p.Met344Ile) | Inborn genetic diseases [RCV002781577] | uncertain significance | 12 | 6516872 | 6516872 | Human | 1 | name |
| 156357074 | CV2253816 | single nucleotide variant | NM_014865.4(NCAPD2):c.1767G>A (p.Met589Ile) | Inborn genetic diseases [RCV002812252] | uncertain significance | 12 | 6521850 | 6521850 | Human | 1 | name |
| 156101757 | CV2260363 | single nucleotide variant | NM_014865.4(NCAPD2):c.2468C>T (p.Ser823Leu) | Inborn genetic diseases [RCV002799170] | uncertain significance | 12 | 6526187 | 6526187 | Human | 1 | name |
| 156001694 | CV2284510 | single nucleotide variant | NM_014865.4(NCAPD2):c.1342G>A (p.Gly448Arg) | Inborn genetic diseases [RCV002865413] | uncertain significance | 12 | 6517617 | 6517617 | Human | 1 | name |
| 156004113 | CV2290110 | single nucleotide variant | NM_014865.4(NCAPD2):c.1823C>A (p.Ser608Tyr) | Inborn genetic diseases [RCV002883518] | uncertain significance | 12 | 6521906 | 6521906 | Human | 1 | name |
| 156278171 | CV2316670 | single nucleotide variant | NM_014865.4(NCAPD2):c.2503C>A (p.Pro835Thr) | Inborn genetic diseases [RCV002934770] | uncertain significance | 12 | 6526308 | 6526308 | Human | 1 | name |
| 156048608 | CV2319252 | single nucleotide variant | NM_014865.4(NCAPD2):c.2363T>C (p.Ile788Thr) | Inborn genetic diseases [RCV002949974] | uncertain significance | 12 | 6526082 | 6526082 | Human | 1 | name |
| 156253286 | CV2325491 | single nucleotide variant | NM_014865.4(NCAPD2):c.2006C>T (p.Pro669Leu) | Inborn genetic diseases [RCV002959300] | uncertain significance | 12 | 6522879 | 6522879 | Human | 1 | name |
| 155980154 | CV2343417 | single nucleotide variant | NM_014865.4(NCAPD2):c.1472A>G (p.Gln491Arg) | Inborn genetic diseases [RCV002946593] | uncertain significance | 12 | 6517842 | 6517842 | Human | 1 | name |
| 156344476 | CV2346080 | single nucleotide variant | NM_014865.4(NCAPD2):c.2506C>T (p.Pro836Ser) | Inborn genetic diseases [RCV002965709] | uncertain significance | 12 | 6526311 | 6526311 | Human | 1 | name |
| 156125552 | CV2350208 | single nucleotide variant | NM_014865.4(NCAPD2):c.2498G>A (p.Arg833His) | Inborn genetic diseases [RCV002981515] | uncertain significance | 12 | 6526303 | 6526303 | Human | 1 | name |
| 155963157 | CV2388353 | single nucleotide variant | NM_014865.4(NCAPD2):c.1132T>G (p.Ser378Ala) | Inborn genetic diseases [RCV002754201] | uncertain significance | 12 | 6516972 | 6516972 | Human | 1 | name |
| 156265922 | CV2389112 | single nucleotide variant | NM_014865.4(NCAPD2):c.2384C>T (p.Thr795Ile) | Inborn genetic diseases [RCV002769739] | uncertain significance | 12 | 6526103 | 6526103 | Human | 1 | name |
| 243056723 | CV2418909 | single nucleotide variant | NM_014865.4(NCAPD2):c.1406C>T (p.Ala469Val) | not specified [RCV003155877] | uncertain significance | 12 | 6517681 | 6517681 | Human | | name |
| 329356289 | CV2442571 | single nucleotide variant | NM_014865.4(NCAPD2):c.2524G>A (p.Glu842Lys) | Inborn genetic diseases [RCV003203203] | uncertain significance | 12 | 6526329 | 6526329 | Human | 1 | name |
| 329371843 | CV2454917 | single nucleotide variant | NM_014865.4(NCAPD2):c.1459A>G (p.Lys487Glu) | Inborn genetic diseases [RCV003209897] | uncertain significance | 12 | 6517829 | 6517829 | Human | 1 | name |
| 329392258 | CV2470525 | single nucleotide variant | NM_014865.4(NCAPD2):c.2276G>A (p.Arg759Gln) | Inborn genetic diseases [RCV003217677] | uncertain significance | 12 | 6525644 | 6525644 | Human | 1 | name |
| 401739016 | CV2673205 | single nucleotide variant | NM_014865.4(NCAPD2):c.1490C>G (p.Pro497Arg) | Inborn genetic diseases [RCV003250867] | uncertain significance | 12 | 6517860 | 6517860 | Human | 1 | name |
| 401769215 | CV2693519 | single nucleotide variant | NM_014865.4(NCAPD2):c.1895G>A (p.Arg632Gln) | Inborn genetic diseases [RCV003260451] | uncertain significance | 12 | 6521978 | 6521978 | Human | 1 | name |
| 401745921 | CV2695465 | single nucleotide variant | NM_014865.4(NCAPD2):c.2059C>T (p.Pro687Ser) | Inborn genetic diseases [RCV003275599] | uncertain significance | 12 | 6522932 | 6522932 | Human | 1 | name |
| 401719194 | CV2704999 | single nucleotide variant | NM_014865.4(NCAPD2):c.1166C>G (p.Thr389Ser) | Inborn genetic diseases [RCV003266801] | uncertain significance | 12 | 6517006 | 6517006 | Human | 1 | name |
| 401760942 | CV2706155 | single nucleotide variant | NM_014865.4(NCAPD2):c.1597A>G (p.Ile533Val) | Inborn genetic diseases [RCV003257391] | uncertain significance | 12 | 6520993 | 6520993 | Human | 1 | name |
| 401741672 | CV2710013 | single nucleotide variant | NM_014865.4(NCAPD2):c.1073C>G (p.Ala358Gly) | Inborn genetic diseases [RCV003292653] | uncertain significance | 12 | 6516913 | 6516913 | Human | 1 | name |
| 401765528 | CV2712833 | single nucleotide variant | NM_014865.4(NCAPD2):c.2368G>A (p.Gly790Arg) | Inborn genetic diseases [RCV003282293] | uncertain significance | 12 | 6526087 | 6526087 | Human | 1 | name |
| 401764540 | CV2721365 | single nucleotide variant | NM_014865.4(NCAPD2):c.1130A>C (p.Asn377Thr) | Inborn genetic diseases [RCV003258600] | uncertain significance | 12 | 6516970 | 6516970 | Human | 1 | name |
| 401783581 | CV2723731 | single nucleotide variant | NM_014865.4(NCAPD2):c.1787G>A (p.Cys596Tyr) | Inborn genetic diseases [RCV003309724] | uncertain significance | 12 | 6521870 | 6521870 | Human | 1 | name |
| 401890026 | CV2758490 | single nucleotide variant | NM_014865.4(NCAPD2):c.2526A>T (p.Glu842Asp) | Inborn genetic diseases [RCV003368618] | uncertain significance | 12 | 6526331 | 6526331 | Human | 1 | name |
| 401870434 | CV2769232 | single nucleotide variant | NM_014865.4(NCAPD2):c.1234C>T (p.Arg412Cys) | Inborn genetic diseases [RCV003346114] | uncertain significance | 12 | 6517413 | 6517413 | Human | 1 | name |
| 401887111 | CV2775616 | single nucleotide variant | NM_014865.4(NCAPD2):c.1912A>G (p.Ile638Val) | Inborn genetic diseases [RCV003352205] | uncertain significance | 12 | 6521995 | 6521995 | Human | 1 | name |
| 401896347 | CV2781099 | single nucleotide variant | NM_014865.4(NCAPD2):c.1556G>A (p.Arg519His) | Inborn genetic diseases [RCV003373954] | uncertain significance | 12 | 6517926 | 6517926 | Human | 1 | name |
| 401882219 | CV2781574 | single nucleotide variant | NM_014865.4(NCAPD2):c.1661C>T (p.Pro554Leu) | Inborn genetic diseases [RCV003365215] | uncertain significance | 12 | 6521057 | 6521057 | Human | 1 | name |
| 401905847 | CV2810095 | single nucleotide variant | NM_014865.4(NCAPD2):c.1903A>C (p.Thr635Pro) | NCAPD2-related disorder [RCV003906735]|not provided [RCV003396143] | benign|likely benign | 12 | 6521986 | 6521986 | Human | 1 | name , trait , alternate_id |
| 405265299 | CV3190768 | single nucleotide variant | NM_014865.4(NCAPD2):c.1901T>C (p.Ile634Thr) | NCAPD2-related disorder [RCV003897345] | likely benign | 12 | 6521984 | 6521984 | Human | | name , trait , alternate_id |
| 405292139 | CV3199733 | single nucleotide variant | NM_014865.4(NCAPD2):c.2507C>T (p.Pro836Leu) | NCAPD2-related disorder [RCV003964400] | benign | 12 | 6526312 | 6526312 | Human | | name , trait , alternate_id |
| 405274474 | CV3208778 | single nucleotide variant | NM_014865.4(NCAPD2):c.2162C>G (p.Ser721Cys) | NCAPD2-related disorder [RCV003951587] | likely benign | 12 | 6523294 | 6523294 | Human | | name , trait , alternate_id |
| 405795356 | CV3336453 | single nucleotide variant | NM_014865.4(NCAPD2):c.1303A>G (p.Asn435Asp) | Inborn genetic diseases [RCV004475506] | uncertain significance | 12 | 6517482 | 6517482 | Human | 1 | name |
| 405795402 | CV3336468 | single nucleotide variant | NM_014865.4(NCAPD2):c.1503G>T (p.Glu501Asp) | Inborn genetic diseases [RCV004475521] | uncertain significance | 12 | 6517873 | 6517873 | Human | 1 | name |
| 405795488 | CV3336496 | single nucleotide variant | NM_014865.4(NCAPD2):c.1793A>T (p.Asn598Ile) | Inborn genetic diseases [RCV004475549]|not provided [RCV004759396] | uncertain significance | 12 | 6521876 | 6521876 | Human | 1 | name |
| 405795498 | CV3336499 | single nucleotide variant | NM_014865.4(NCAPD2):c.1802A>G (p.Asn601Ser) | Inborn genetic diseases [RCV004475552] | likely benign | 12 | 6521885 | 6521885 | Human | 1 | name |
| 405795509 | CV3336502 | single nucleotide variant | NM_014865.4(NCAPD2):c.1808C>T (p.Ser603Leu) | Inborn genetic diseases [RCV004475555] | likely benign | 12 | 6521891 | 6521891 | Human | 1 | name |
| 405795537 | CV3336511 | single nucleotide variant | NM_014865.4(NCAPD2):c.1826G>C (p.Arg609Thr) | Inborn genetic diseases [RCV004475564] | likely benign | 12 | 6521909 | 6521909 | Human | 1 | name |
| 405795840 | CV3336527 | single nucleotide variant | NM_014865.4(NCAPD2):c.2077G>A (p.Val693Met) | Inborn genetic diseases [RCV004475580] | uncertain significance | 12 | 6522950 | 6522950 | Human | 1 | name |
| 405795815 | CV3336535 | single nucleotide variant | NM_014865.4(NCAPD2):c.2299T>A (p.Cys767Ser) | Inborn genetic diseases [RCV004475588] | likely benign | 12 | 6525667 | 6525667 | Human | 1 | name |
| 405795658 | CV3336572 | single nucleotide variant | NM_014865.4(NCAPD2):c.2741C>T (p.Ser914Phe) | Inborn genetic diseases [RCV004475625] | uncertain significance | 12 | 6526897 | 6526897 | Human | 1 | name |
| 405795675 | CV3336577 | single nucleotide variant | NM_014865.4(NCAPD2):c.2771T>C (p.Met924Thr) | Inborn genetic diseases [RCV004475630] | uncertain significance | 12 | 6526927 | 6526927 | Human | 1 | name |
| 405795694 | CV3336583 | single nucleotide variant | NM_014865.4(NCAPD2):c.2852G>A (p.Arg951Gln) | Inborn genetic diseases [RCV004475636] | uncertain significance | 12 | 6527008 | 6527008 | Human | 1 | name |
| 405795710 | CV3336588 | single nucleotide variant | NM_014865.4(NCAPD2):c.2855G>A (p.Arg952His) | Inborn genetic diseases [RCV004475641] | uncertain significance | 12 | 6527011 | 6527011 | Human | 1 | name |
| 405795726 | CV3336593 | single nucleotide variant | NM_014865.4(NCAPD2):c.2988C>G (p.Ile996Met) | Inborn genetic diseases [RCV004475646] | uncertain significance | 12 | 6527857 | 6527857 | Human | 1 | name |
| 407426504 | CV3411367 | single nucleotide variant | NM_014865.4(NCAPD2):c.1451C>T (p.Pro484Leu) | not provided [RCV004590544] | uncertain significance | 12 | 6517821 | 6517821 | Human | | name |
| 407521188 | CV3458290 | single nucleotide variant | NM_014865.4(NCAPD2):c.1076G>A (p.Arg359Gln) | Inborn genetic diseases [RCV004652447] | uncertain significance | 12 | 6516916 | 6516916 | Human | 1 | name |
| 407521191 | CV3458291 | single nucleotide variant | NM_014865.4(NCAPD2):c.2732C>T (p.Pro911Leu) | Inborn genetic diseases [RCV004652448] | likely benign | 12 | 6526613 | 6526613 | Human | 1 | name |
| 407521197 | CV3458294 | single nucleotide variant | NM_014865.4(NCAPD2):c.2850C>G (p.Cys950Trp) | Inborn genetic diseases [RCV004652450] | uncertain significance | 12 | 6527006 | 6527006 | Human | 1 | name |
| 407521200 | CV3458295 | single nucleotide variant | NM_014865.4(NCAPD2):c.1747C>T (p.Arg583Trp) | Inborn genetic diseases [RCV004652451] | uncertain significance | 12 | 6521830 | 6521830 | Human | 1 | name |
| 407488465 | CV3458297 | single nucleotide variant | NM_014865.4(NCAPD2):c.2710A>G (p.Lys904Glu) | Inborn genetic diseases [RCV004641278] | uncertain significance | 12 | 6526591 | 6526591 | Human | 1 | name |
| 407521205 | CV3458298 | single nucleotide variant | NM_014865.4(NCAPD2):c.1854G>C (p.Glu618Asp) | Inborn genetic diseases [RCV004652453] | uncertain significance | 12 | 6521937 | 6521937 | Human | 1 | name |
| 407521208 | CV3458299 | single nucleotide variant | NM_014865.4(NCAPD2):c.1985T>A (p.Met662Lys) | Inborn genetic diseases [RCV004652454] | uncertain significance | 12 | 6522858 | 6522858 | Human | 1 | name |
| 407521210 | CV3458300 | single nucleotide variant | NM_014865.4(NCAPD2):c.1986G>T (p.Met662Ile) | Inborn genetic diseases [RCV004652455] | uncertain significance | 12 | 6522859 | 6522859 | Human | 1 | name |
| 407521216 | CV3458302 | single nucleotide variant | NM_014865.4(NCAPD2):c.2858G>A (p.Arg953Gln) | Inborn genetic diseases [RCV004652457] | uncertain significance | 12 | 6527014 | 6527014 | Human | 1 | name |
| 408381492 | CV3501942 | single nucleotide variant | NM_014865.4(NCAPD2):c.2008C>T (p.Gln670Ter) | Microcephaly 21, primary, autosomal recessive [RCV005392858]|not provided [RCV004729470] | uncertain significance | 12 | 6522881 | 6522881 | Human | 1 | name |
| 408385940 | CV3520431 | single nucleotide variant | NM_014865.4(NCAPD2):c.1232G>C (p.Gly411Ala) | not provided [RCV004760252] | uncertain significance | 12 | 6517411 | 6517411 | Human | | name |
| 596924714 | CV3532374 | single nucleotide variant | NM_014865.4(NCAPD2):c.1142G>A (p.Arg381Gln) | not provided [RCV004777485] | uncertain significance | 12 | 6516982 | 6516982 | Human | | name |
| 596922328 | CV3537067 | single nucleotide variant | NM_014865.4(NCAPD2):c.2599T>C (p.Phe867Leu) | not provided [RCV004786062] | uncertain significance | 12 | 6526480 | 6526480 | Human | | name |
| 597719985 | CV3562248 | single nucleotide variant | NM_014865.4(NCAPD2):c.1574C>T (p.Ala525Val) | Inborn genetic diseases [RCV004961391] | uncertain significance | 12 | 6517944 | 6517944 | Human | 1 | name |
| 597719996 | CV3562250 | single nucleotide variant | NM_014865.4(NCAPD2):c.1627T>G (p.Phe543Val) | Inborn genetic diseases [RCV004961393] | likely benign | 12 | 6521023 | 6521023 | Human | 1 | name |
| 597720011 | CV3562252 | single nucleotide variant | NM_014865.4(NCAPD2):c.2851C>T (p.Arg951Trp) | Inborn genetic diseases [RCV004961395] | uncertain significance | 12 | 6527007 | 6527007 | Human | 1 | name |
| 597720053 | CV3562258 | single nucleotide variant | NM_014865.4(NCAPD2):c.1555C>A (p.Arg519Ser) | Inborn genetic diseases [RCV004961401] | uncertain significance | 12 | 6517925 | 6517925 | Human | 1 | name |
| 597720072 | CV3562261 | single nucleotide variant | NM_014865.4(NCAPD2):c.1766T>C (p.Met589Thr) | Inborn genetic diseases [RCV004961404] | uncertain significance | 12 | 6521849 | 6521849 | Human | 1 | name |
| 597720078 | CV3562262 | single nucleotide variant | NM_014865.4(NCAPD2):c.1106T>C (p.Leu369Ser) | Inborn genetic diseases [RCV004961405] | uncertain significance | 12 | 6516946 | 6516946 | Human | 1 | name |
| 597720129 | CV3562268 | single nucleotide variant | NM_014865.4(NCAPD2):c.2828A>T (p.Gln943Leu) | Inborn genetic diseases [RCV004961411] | uncertain significance | 12 | 6526984 | 6526984 | Human | 1 | name |
| 598252825 | CV3983646 | single nucleotide variant | NM_014865.4(NCAPD2):c.1913T>C (p.Ile638Thr) | Inborn genetic diseases [RCV005385232] | uncertain significance | 12 | 6521996 | 6521996 | Human | 1 | name |
| 598216561 | CV3983648 | single nucleotide variant | NM_014865.4(NCAPD2):c.2507C>G (p.Pro836Arg) | Inborn genetic diseases [RCV005378932] | uncertain significance | 12 | 6526312 | 6526312 | Human | 1 | name |
| 598216563 | CV3983649 | single nucleotide variant | NM_014865.4(NCAPD2):c.2430G>C (p.Arg810Ser) | Inborn genetic diseases [RCV005378933] | uncertain significance | 12 | 6526149 | 6526149 | Human | 1 | name |
| 598252830 | CV3983650 | single nucleotide variant | NM_014865.4(NCAPD2):c.2867G>A (p.Arg956Gln) | Inborn genetic diseases [RCV005385233] | uncertain significance | 12 | 6527023 | 6527023 | Human | 1 | name |
| 598216586 | CV3983657 | single nucleotide variant | NM_014865.4(NCAPD2):c.2005C>T (p.Pro669Ser) | Inborn genetic diseases [RCV005378937] | uncertain significance | 12 | 6522878 | 6522878 | Human | 1 | name |
| 598216598 | CV3983660 | single nucleotide variant | NM_014865.4(NCAPD2):c.1201C>T (p.Arg401Cys) | Inborn genetic diseases [RCV005378939] | uncertain significance | 12 | 6517380 | 6517380 | Human | 1 | name |
| 598216608 | CV3983663 | single nucleotide variant | NM_014865.4(NCAPD2):c.1783G>C (p.Val595Leu) | Inborn genetic diseases [RCV005378941] | uncertain significance | 12 | 6521866 | 6521866 | Human | 1 | name |
| 598208442 | CV4007700 | single nucleotide variant | NM_014865.4(NCAPD2):c.2542C>T (p.Arg848Ter) | Microcephaly 21, primary, autosomal recessive [RCV005400014] | uncertain significance | 12 | 6526347 | 6526347 | Human | 1 | name |
| 14396775 | CV612960 | single nucleotide variant | NM_014865.4(NCAPD2):c.2647G>A (p.Glu883Lys) | Inborn genetic diseases [RCV002533882]|not provided [RCV000761815] | uncertain significance | 12 | 6526528 | 6526528 | Human | 1 | name |
| 15138965 | CV713710 | single nucleotide variant | NM_014865.4(NCAPD2):c.1739A>G (p.Lys580Arg) | NCAPD2-related disorder [RCV003972846]|not provided [RCV000965882] | benign|likely benign | 12 | 6521822 | 6521822 | Human | 1 | name , trait , alternate_id |
| 15149156 | CV753553 | single nucleotide variant | NM_014865.4(NCAPD2):c.1009G>A (p.Val337Met) | not provided [RCV000923232] | likely benign|conflicting interpretations of pathogenicity | 12 | 6516849 | 6516849 | Human | | name |
| 21074185 | CV796848 | single nucleotide variant | NM_014865.4(NCAPD2):c.2854C>T (p.Arg952Cys) | not provided [RCV000994830] | uncertain significance | 12 | 6527010 | 6527010 | Human | | name |
| 126726450 | CV1017678 | single nucleotide variant | NM_014865.4(NCAPD2):c.3830A>T (p.Glu1277Val) | Microcephaly 21, primary, autosomal recessive [RCV001331975] | uncertain significance | 12 | 6529951 | 6529951 | Human | 1 | name |
| 150499374 | CV1224579 | single nucleotide variant | NM_014865.4(NCAPD2):c.3962C>G (p.Thr1321Ser) | not provided [RCV001620410] | benign | 12 | 6530815 | 6530815 | Human | | name |
| 155268761 | CV1705588 | single nucleotide variant | NM_014865.4(NCAPD2):c.3532G>A (p.Glu1178Lys) | not provided [RCV002286195] | uncertain significance | 12 | 6528999 | 6528999 | Human | | name |
| 155797421 | CV1860362 | single nucleotide variant | NM_014865.4(NCAPD2):c.4190G>A (p.Arg1397His) | Inborn genetic diseases [RCV004958552]|not provided [RCV002467004] | uncertain significance | 12 | 6531396 | 6531396 | Human | 1 | name |
| 156116867 | CV2209122 | single nucleotide variant | NM_014865.4(NCAPD2):c.4018C>T (p.Pro1340Ser) | Inborn genetic diseases [RCV002707571] | uncertain significance | 12 | 6530974 | 6530974 | Human | 1 | name |
| 156400843 | CV2217285 | single nucleotide variant | NM_014865.4(NCAPD2):c.4064G>A (p.Arg1355Gln) | Inborn genetic diseases [RCV002656702] | uncertain significance | 12 | 6531020 | 6531020 | Human | 1 | name |
| 156181934 | CV2222249 | single nucleotide variant | NM_014865.4(NCAPD2):c.3710A>G (p.Glu1237Gly) | Inborn genetic diseases [RCV002742334] | uncertain significance | 12 | 6529831 | 6529831 | Human | 1 | name |
| 156358783 | CV2260803 | single nucleotide variant | NM_014865.4(NCAPD2):c.3392T>G (p.Val1131Gly) | Inborn genetic diseases [RCV002812498] | uncertain significance | 12 | 6528771 | 6528771 | Human | 1 | name |
| 155973291 | CV2271626 | single nucleotide variant | NM_014865.4(NCAPD2):c.4124T>C (p.Leu1375Pro) | Inborn genetic diseases [RCV002817903] | uncertain significance | 12 | 6531330 | 6531330 | Human | 1 | name |
| 156267856 | CV2275578 | single nucleotide variant | NM_014865.4(NCAPD2):c.3215G>A (p.Arg1072Gln) | Inborn genetic diseases [RCV002832125] | uncertain significance | 12 | 6528244 | 6528244 | Human | 1 | name |
| 156262947 | CV2287669 | single nucleotide variant | NM_014865.4(NCAPD2):c.3424G>A (p.Glu1142Lys) | Inborn genetic diseases [RCV002855537] | uncertain significance | 12 | 6528803 | 6528803 | Human | 1 | name |
| 155932305 | CV2290591 | single nucleotide variant | NM_014865.4(NCAPD2):c.3775A>C (p.Ile1259Leu) | Inborn genetic diseases [RCV002861153] | uncertain significance | 12 | 6529896 | 6529896 | Human | 1 | name |
| 156070431 | CV2316940 | single nucleotide variant | NM_014865.4(NCAPD2):c.4134G>T (p.Glu1378Asp) | Inborn genetic diseases [RCV002912319] | uncertain significance | 12 | 6531340 | 6531340 | Human | 1 | name |
| 156083338 | CV2342990 | single nucleotide variant | NM_014865.4(NCAPD2):c.4040G>A (p.Arg1347His) | Inborn genetic diseases [RCV002951931] | uncertain significance | 12 | 6530996 | 6530996 | Human | 1 | name |
| 155926174 | CV2348639 | single nucleotide variant | NM_014865.4(NCAPD2):c.3559C>G (p.His1187Asp) | Inborn genetic diseases [RCV002970075] | uncertain significance | 12 | 6529026 | 6529026 | Human | 1 | name |
| 155918386 | CV2362591 | single nucleotide variant | NM_014865.4(NCAPD2):c.4027C>T (p.Arg1343Cys) | Inborn genetic diseases [RCV003012932] | uncertain significance | 12 | 6530983 | 6530983 | Human | 1 | name |
| 156338212 | CV2370595 | single nucleotide variant | NM_014865.4(NCAPD2):c.3917G>C (p.Gly1306Ala) | Inborn genetic diseases [RCV002674125] | uncertain significance | 12 | 6530770 | 6530770 | Human | 1 | name |
| 156252282 | CV2390020 | single nucleotide variant | NM_014865.4(NCAPD2):c.3029C>G (p.Thr1010Arg) | Inborn genetic diseases [RCV002768942] | uncertain significance | 12 | 6527977 | 6527977 | Human | 1 | name |
| 156061579 | CV2392011 | single nucleotide variant | NM_014865.4(NCAPD2):c.3253C>T (p.Arg1085Cys) | Inborn genetic diseases [RCV002759952] | uncertain significance | 12 | 6528282 | 6528282 | Human | 1 | name |
| 156113914 | CV2397106 | single nucleotide variant | NM_014865.4(NCAPD2):c.3773C>A (p.Ser1258Tyr) | Inborn genetic diseases [RCV002739895] | uncertain significance | 12 | 6529894 | 6529894 | Human | 1 | name |
| 156088746 | CV2397498 | single nucleotide variant | NM_014865.4(NCAPD2):c.3493A>G (p.Asn1165Asp) | Inborn genetic diseases [RCV002784171] | uncertain significance | 12 | 6528960 | 6528960 | Human | 1 | name |
| 156255991 | CV2397712 | single nucleotide variant | NM_014865.4(NCAPD2):c.4028G>A (p.Arg1343His) | Inborn genetic diseases [RCV002769155] | uncertain significance | 12 | 6530984 | 6530984 | Human | 1 | name |
| 329381727 | CV2441512 | single nucleotide variant | NM_014865.4(NCAPD2):c.4106A>G (p.Glu1369Gly) | Inborn genetic diseases [RCV003175812] | uncertain significance | 12 | 6531062 | 6531062 | Human | 1 | name |
| 329371880 | CV2454967 | single nucleotide variant | NM_014865.4(NCAPD2):c.3812G>A (p.Arg1271Gln) | Inborn genetic diseases [RCV003209935] | uncertain significance | 12 | 6529933 | 6529933 | Human | 1 | name |
| 329394931 | CV2457738 | single nucleotide variant | NM_014865.4(NCAPD2):c.3887G>A (p.Gly1296Asp) | Inborn genetic diseases [RCV003194008] | uncertain significance | 12 | 6530740 | 6530740 | Human | 1 | name |
| 329360399 | CV2458719 | single nucleotide variant | NM_014865.4(NCAPD2):c.3716G>T (p.Gly1239Val) | Inborn genetic diseases [RCV003204981] | uncertain significance | 12 | 6529837 | 6529837 | Human | 1 | name |
| 329381957 | CV2467436 | single nucleotide variant | NM_014865.4(NCAPD2):c.4012G>C (p.Val1338Leu) | Inborn genetic diseases [RCV003213228] | uncertain significance | 12 | 6530968 | 6530968 | Human | 1 | name |
| 401741274 | CV2680369 | single nucleotide variant | NM_014865.4(NCAPD2):c.4184C>T (p.Ser1395Leu) | Inborn genetic diseases [RCV003251418] | uncertain significance | 12 | 6531390 | 6531390 | Human | 1 | name |
| 401775060 | CV2696207 | single nucleotide variant | NM_014865.4(NCAPD2):c.3254G>A (p.Arg1085His) | Inborn genetic diseases [RCV003285967] | uncertain significance | 12 | 6528283 | 6528283 | Human | 1 | name |
| 401725325 | CV2726117 | single nucleotide variant | NM_014865.4(NCAPD2):c.3450G>C (p.Lys1150Asn) | Inborn genetic diseases [RCV003268929] | uncertain significance | 12 | 6528829 | 6528829 | Human | 1 | name |
| 401891424 | CV2780459 | single nucleotide variant | NM_014865.4(NCAPD2):c.3668A>C (p.Gln1223Pro) | Inborn genetic diseases [RCV003369460] | uncertain significance | 12 | 6529789 | 6529789 | Human | 1 | name |
| 405795757 | CV3336600 | single nucleotide variant | NM_014865.4(NCAPD2):c.3049C>G (p.Leu1017Val) | Inborn genetic diseases [RCV004475653] | uncertain significance | 12 | 6527997 | 6527997 | Human | 1 | name |
| 405795773 | CV3336605 | single nucleotide variant | NM_014865.4(NCAPD2):c.3169C>T (p.Arg1057Cys) | Inborn genetic diseases [RCV004475658] | uncertain significance | 12 | 6528198 | 6528198 | Human | 1 | name |
| 405795865 | CV3336610 | single nucleotide variant | NM_014865.4(NCAPD2):c.3170G>A (p.Arg1057His) | Inborn genetic diseases [RCV004475663] | uncertain significance | 12 | 6528199 | 6528199 | Human | 1 | name |
| 405795948 | CV3336637 | single nucleotide variant | NM_014865.4(NCAPD2):c.3518G>T (p.Arg1173Leu) | Inborn genetic diseases [RCV004475690] | uncertain significance | 12 | 6528985 | 6528985 | Human | 1 | name |
| 405795967 | CV3336643 | single nucleotide variant | NM_014865.4(NCAPD2):c.3561C>A (p.His1187Gln) | Inborn genetic diseases [RCV004475696] | uncertain significance | 12 | 6529028 | 6529028 | Human | 1 | name |
| 405796058 | CV3336672 | single nucleotide variant | NM_014865.4(NCAPD2):c.3922G>A (p.Ala1308Thr) | Inborn genetic diseases [RCV004475725] | uncertain significance | 12 | 6530775 | 6530775 | Human | 1 | name |
| 405796074 | CV3336677 | single nucleotide variant | NM_014865.4(NCAPD2):c.3985G>T (p.Ala1329Ser) | Inborn genetic diseases [RCV004475730] | uncertain significance | 12 | 6530941 | 6530941 | Human | 1 | name |
| 405796096 | CV3336684 | single nucleotide variant | NM_014865.4(NCAPD2):c.4019C>T (p.Pro1340Leu) | Inborn genetic diseases [RCV004475737] | uncertain significance | 12 | 6530975 | 6530975 | Human | 1 | name |
| 407488458 | CV3458288 | single nucleotide variant | NM_014865.4(NCAPD2):c.3722G>A (p.Arg1241His) | Inborn genetic diseases [RCV004641276] | likely benign | 12 | 6529843 | 6529843 | Human | 1 | name |
| 407488463 | CV3458292 | single nucleotide variant | NM_014865.4(NCAPD2):c.3644G>A (p.Arg1215His) | Inborn genetic diseases [RCV004641277] | uncertain significance | 12 | 6529584 | 6529584 | Human | 1 | name |
| 407521213 | CV3458301 | single nucleotide variant | NM_014865.4(NCAPD2):c.3895G>A (p.Gly1299Arg) | Inborn genetic diseases [RCV004652456] | uncertain significance | 12 | 6530748 | 6530748 | Human | 1 | name |
| 407507108 | CV3496047 | single nucleotide variant | NM_014865.4(NCAPD2):c.3683A>C (p.Tyr1228Ser) | not provided [RCV004697887] | uncertain significance | 12 | 6529804 | 6529804 | Human | | name |
| 408381729 | CV3523959 | single nucleotide variant | NM_014865.4(NCAPD2):c.3635A>C (p.Gln1212Pro) | not provided [RCV004766357] | uncertain significance | 12 | 6529575 | 6529575 | Human | | name |
| 408389622 | CV3524665 | single nucleotide variant | NM_014865.4(NCAPD2):c.4004A>G (p.Asn1335Ser) | not provided [RCV004769560] | uncertain significance | 12 | 6530960 | 6530960 | Human | | name |
| 596925723 | CV3530560 | single nucleotide variant | NM_014865.4(NCAPD2):c.3065G>A (p.Cys1022Tyr) | not provided [RCV004778145] | uncertain significance | 12 | 6528013 | 6528013 | Human | | name |
| 597719991 | CV3562249 | single nucleotide variant | NM_014865.4(NCAPD2):c.3335C>T (p.Ala1112Val) | Inborn genetic diseases [RCV004961392] | uncertain significance | 12 | 6528714 | 6528714 | Human | 1 | name |
| 597720018 | CV3562253 | single nucleotide variant | NM_014865.4(NCAPD2):c.3662G>A (p.Arg1221Gln) | Inborn genetic diseases [RCV004961396] | uncertain significance | 12 | 6529783 | 6529783 | Human | 1 | name |
| 597720045 | CV3562257 | single nucleotide variant | NM_014865.4(NCAPD2):c.4156A>C (p.Lys1386Gln) | Inborn genetic diseases [RCV004961400] | uncertain significance | 12 | 6531362 | 6531362 | Human | 1 | name |
| 597720065 | CV3562260 | single nucleotide variant | NM_014865.4(NCAPD2):c.3326G>A (p.Arg1109Gln) | Inborn genetic diseases [RCV004961403] | uncertain significance | 12 | 6528705 | 6528705 | Human | 1 | name |
| 597720084 | CV3562263 | single nucleotide variant | NM_014865.4(NCAPD2):c.4013T>C (p.Val1338Ala) | Inborn genetic diseases [RCV004961406] | uncertain significance | 12 | 6530969 | 6530969 | Human | 1 | name |
| 597720113 | CV3562266 | single nucleotide variant | NM_014865.4(NCAPD2):c.3907C>G (p.Leu1303Val) | Inborn genetic diseases [RCV004961409] | uncertain significance | 12 | 6530760 | 6530760 | Human | 1 | name |
| 598216573 | CV3983654 | single nucleotide variant | NM_014865.4(NCAPD2):c.3484G>A (p.Ala1162Thr) | Inborn genetic diseases [RCV005378935] | uncertain significance | 12 | 6528951 | 6528951 | Human | 1 | name |
| 598252842 | CV3983655 | single nucleotide variant | NM_014865.4(NCAPD2):c.3141C>G (p.Ile1047Met) | Inborn genetic diseases [RCV005385236] | uncertain significance | 12 | 6528089 | 6528089 | Human | 1 | name |
| 598216590 | CV3983658 | single nucleotide variant | NM_014865.4(NCAPD2):c.3490T>G (p.Tyr1164Asp) | Inborn genetic diseases [RCV005378938] | uncertain significance | 12 | 6528957 | 6528957 | Human | 1 | name |
| 598216603 | CV3983661 | single nucleotide variant | NM_014865.4(NCAPD2):c.3775A>G (p.Ile1259Val) | Inborn genetic diseases [RCV005378940] | likely benign | 12 | 6529896 | 6529896 | Human | 1 | name |
| 598252849 | CV3983662 | single nucleotide variant | NM_014865.4(NCAPD2):c.3133T>C (p.Cys1045Arg) | Inborn genetic diseases [RCV005385238] | uncertain significance | 12 | 6528081 | 6528081 | Human | 1 | name |
| 598252852 | CV3983664 | single nucleotide variant | NM_014865.4(NCAPD2):c.4189C>T (p.Arg1397Cys) | Inborn genetic diseases [RCV005385239] | uncertain significance | 12 | 6531395 | 6531395 | Human | 1 | name |
| 15185422 | CV702472 | single nucleotide variant | NM_014865.4(NCAPD2):c.3509T>C (p.Ile1170Thr) | not provided [RCV000952977] | likely benign | 12 | 6528976 | 6528976 | Human | | name |
| 15176214 | CV702473 | single nucleotide variant | NM_014865.4(NCAPD2):c.4147G>A (p.Glu1383Lys) | NCAPD2-related disorder [RCV003913316]|not provided [RCV000950774] | benign | 12 | 6531353 | 6531353 | Human | 1 | name , trait , alternate_id |
| 15138970 | CV713711 | single nucleotide variant | NM_014865.4(NCAPD2):c.3653G>T (p.Arg1218Leu) | NCAPD2-related disorder [RCV003926267]|not provided [RCV000965883] | benign|likely benign | 12 | 6529593 | 6529593 | Human | 1 | name , trait , alternate_id |
| 598227459 | CV3895977 | deletion | NM_014865.4(NCAPD2):c.806_807del (p.Tyr269fs) | Microcephaly 21, primary, autosomal recessive [RCV005362243] | likely pathogenic | 12 | 6514553 | 6514554 | Human | 1 | name |
| 401914504 | CV2830723 | microsatellite | NM_014865.4(NCAPD2):c.1150_1151del (p.Val384fs) | not provided [RCV003442461] | likely pathogenic | 12 | 6516988 | 6516989 | Human | | name |
| 14396776 | CV612961 | microsatellite | NM_014865.4(NCAPD2):c.3454TTC[1] (p.Phe1153del) | not provided [RCV000761816] | uncertain significance | 12 | 6528832 | 6528834 | Human | | name |
| 243062563 | CV2405037 | deletion | NM_014865.4(NCAPD2):c.3054_3057del (p.Leu1019fs) | Microcephaly 21, primary, autosomal recessive [RCV003140587] | uncertain significance | 12 | 6527999 | 6528002 | Human | 1 | name |