| 127295552 | CV1156935 | single nucleotide variant | NM_017612.5(ZCCHC8):c.200-4T>C | not provided [RCV001512242] | benign | 12 | 122498873 | 122498873 | Human | | name |
| 151784722 | CV1344728 | single nucleotide variant | NM_017612.5(ZCCHC8):c.199+3A>G | not provided [RCV001989455] | uncertain significance | 12 | 122500639 | 122500639 | Human | | name |
| 151770432 | CV1481757 | single nucleotide variant | NM_017612.5(ZCCHC8):c.317+4A>G | not provided [RCV002008791] | uncertain significance | 12 | 122492711 | 122492711 | Human | | name |
| 151888972 | CV1504573 | single nucleotide variant | NM_017612.5(ZCCHC8):c.671+5G>A | not provided [RCV001963329] | uncertain significance | 12 | 122483274 | 122483274 | Human | | name |
| 152116865 | CV1569774 | single nucleotide variant | NM_017612.5(ZCCHC8):c.733-4G>A | not provided [RCV002117308] | likely benign | 12 | 122482091 | 122482091 | Human | | name |
| 152074527 | CV1630210 | single nucleotide variant | NM_017612.5(ZCCHC8):c.424-7G>T | not provided [RCV002169727] | likely benign | 12 | 122489470 | 122489470 | Human | | name |
| 155952825 | CV1896385 | single nucleotide variant | NM_017612.5(ZCCHC8):c.423+9A>C | not provided [RCV003095426] | likely benign | 12 | 122490453 | 122490453 | Human | | name |
| 156009866 | CV2039025 | deletion | NM_017612.5(ZCCHC8):c.200-4del | not provided [RCV002795041] | likely benign | 12 | 122498873 | 122498873 | Human | | name |
| 156349985 | CV2125582 | duplication | NM_017612.5(ZCCHC8):c.317+2dup | not provided [RCV002966226] | uncertain significance | 12 | 122492712 | 122492713 | Human | | name |
| 405216063 | CV2977970 | single nucleotide variant | NM_017612.5(ZCCHC8):c.875+8T>C | not provided [RCV003709332] | likely benign | 12 | 122481937 | 122481937 | Human | | name |
| 405217153 | CV3055642 | single nucleotide variant | NM_017612.5(ZCCHC8):c.242+7G>A | not provided [RCV003732703] | likely benign | 12 | 122498820 | 122498820 | Human | | name |
| 597868369 | CV3742915 | single nucleotide variant | NM_017612.5(ZCCHC8):c.318-5C>A | not provided [RCV005068338] | likely benign | 12 | 122490572 | 122490572 | Human | | name |
| 597951747 | CV3756516 | single nucleotide variant | NM_017612.5(ZCCHC8):c.318-4A>G | not provided [RCV005079573] | likely benign | 12 | 122490571 | 122490571 | Human | | name |
| 597938925 | CV3788383 | single nucleotide variant | NM_017612.5(ZCCHC8):c.671+7G>T | not provided [RCV005133058] | likely benign | 12 | 122483272 | 122483272 | Human | | name |
| 597923382 | CV3808504 | single nucleotide variant | NM_017612.5(ZCCHC8):c.200-8A>C | not provided [RCV005156018] | likely benign | 12 | 122498877 | 122498877 | Human | | name |
| 597955773 | CV3809560 | single nucleotide variant | NM_017612.5(ZCCHC8):c.317+7A>G | not provided [RCV005162285] | likely benign | 12 | 122492708 | 122492708 | Human | | name |
| 597916202 | CV3814663 | single nucleotide variant | NM_017612.5(ZCCHC8):c.317+2T>G | not provided [RCV005154978] | uncertain significance | 12 | 122492713 | 122492713 | Human | | name |
| 127285894 | CV1143196 | single nucleotide variant | NM_017612.5(ZCCHC8):c.733-14G>A | not provided [RCV001493808] | likely benign | 12 | 122482101 | 122482101 | Human | | name |
| 152174062 | CV1536014 | single nucleotide variant | NM_017612.5(ZCCHC8):c.424-20T>C | not provided [RCV002144317] | likely benign | 12 | 122489483 | 122489483 | Human | | name |
| 152171187 | CV1552642 | single nucleotide variant | NM_017612.5(ZCCHC8):c.317+17C>G | not provided [RCV002143367] | likely benign | 12 | 122492698 | 122492698 | Human | | name |
| 152156485 | CV1586004 | single nucleotide variant | NM_017612.5(ZCCHC8):c.243-11T>A | not provided [RCV002140244] | likely benign | 12 | 122492800 | 122492800 | Human | | name |
| 152170495 | CV1592456 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1140+7A>G | not provided [RCV002161793] | likely benign | 12 | 122480183 | 122480183 | Human | | name |
| 152121430 | CV1662224 | single nucleotide variant | NM_017612.5(ZCCHC8):c.199+18T>C | not provided [RCV002117899] | benign | 12 | 122500624 | 122500624 | Human | | name |
| 152084642 | CV1663060 | single nucleotide variant | NM_017612.5(ZCCHC8):c.199+14T>C | not provided [RCV002171001] | likely benign | 12 | 122500628 | 122500628 | Human | | name |
| 152980866 | CV1676181 | single nucleotide variant | NM_017612.5(ZCCHC8):c.200-44T>C | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV002245259]|not provided [RCV004707805] | benign | 12 | 122498913 | 122498913 | Human | 1 | name |
| 156407837 | CV1957623 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1019-4A>G | not provided [RCV002586340] | uncertain significance | 12 | 122480315 | 122480315 | Human | | name |
| 156059732 | CV1978906 | single nucleotide variant | NM_017612.5(ZCCHC8):c.605+12A>G | not provided [RCV002590935] | uncertain significance | 12 | 122483448 | 122483448 | Human | | name |
| 156115289 | CV1993869 | single nucleotide variant | NM_017612.5(ZCCHC8):c.671+11G>A | not provided [RCV002662642] | likely benign | 12 | 122483268 | 122483268 | Human | | name |
| 156405907 | CV2004517 | single nucleotide variant | NM_017612.5(ZCCHC8):c.502-15A>G | not provided [RCV002658427] | likely benign | 12 | 122483578 | 122483578 | Human | | name |
| 156121802 | CV2015978 | single nucleotide variant | NM_017612.5(ZCCHC8):c.732+13C>A | not provided [RCV002696065] | likely benign | 12 | 122482622 | 122482622 | Human | | name |
| 156343039 | CV2051659 | single nucleotide variant | NM_017612.5(ZCCHC8):c.672-16T>C | not provided [RCV002811304] | likely benign | 12 | 122482711 | 122482711 | Human | | name |
| 402520980 | CV2867363 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1140+9A>G | not provided [RCV003547755] | likely benign | 12 | 122480181 | 122480181 | Human | | name |
| 402505063 | CV2927645 | single nucleotide variant | NM_017612.5(ZCCHC8):c.242+20A>C | not provided [RCV003574374] | likely benign | 12 | 122498807 | 122498807 | Human | | name |
| 402487205 | CV2941399 | single nucleotide variant | NM_017612.5(ZCCHC8):c.875+20A>G | not provided [RCV003660194] | likely benign | 12 | 122481925 | 122481925 | Human | | name |
| 402494529 | CV2978472 | single nucleotide variant | NM_017612.5(ZCCHC8):c.605+10A>G | not provided [RCV003714112] | likely benign | 12 | 122483450 | 122483450 | Human | | name |
| 402502473 | CV3032481 | single nucleotide variant | NM_017612.5(ZCCHC8):c.243-11T>G | not provided [RCV003714885] | uncertain significance | 12 | 122492800 | 122492800 | Human | | name |
| 405253772 | CV3044982 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1228-3T>C | not provided [RCV003722687] | uncertain significance | 12 | 122477961 | 122477961 | Human | | name |
| 405054191 | CV3151289 | deletion | NM_017612.5(ZCCHC8):c.199+11del | not provided [RCV003849698] | likely benign | 12 | 122500631 | 122500631 | Human | | name |
| 405234523 | CV3158073 | single nucleotide variant | NM_017612.5(ZCCHC8):c.502-16G>T | not provided [RCV003865829] | likely benign | 12 | 122483579 | 122483579 | Human | | name |
| 405221720 | CV3158165 | single nucleotide variant | NM_017612.5(ZCCHC8):c.876-12A>G | not provided [RCV003863660] | likely benign | 12 | 122481676 | 122481676 | Human | | name |
| 404981968 | CV3179648 | single nucleotide variant | NM_017612.5(ZCCHC8):c.199+10C>G | not provided [RCV003880629] | likely benign | 12 | 122500632 | 122500632 | Human | | name |
| 597889995 | CV3739473 | single nucleotide variant | NM_017612.5(ZCCHC8):c.501+12C>T | not provided [RCV005071020] | likely benign | 12 | 122489374 | 122489374 | Human | | name |
| 597930506 | CV3745853 | single nucleotide variant | NM_017612.5(ZCCHC8):c.501+18A>G | not provided [RCV005075838] | likely benign | 12 | 122489368 | 122489368 | Human | | name |
| 597856436 | CV3821857 | duplication | NM_017612.5(ZCCHC8):c.502-17dup | not provided [RCV005174335] | benign | 12 | 122483579 | 122483580 | Human | | name |
| 597964739 | CV3830478 | single nucleotide variant | NM_017612.5(ZCCHC8):c.242+16A>G | not provided [RCV005164618] | likely benign | 12 | 122498811 | 122498811 | Human | | name |
| 15124319 | CV744747 | single nucleotide variant | NM_017612.5(ZCCHC8):c.732+10T>C | not provided [RCV000896567] | benign | 12 | 122482625 | 122482625 | Human | | name |
| 15154206 | CV779601 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1345+5G>A | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV002488056]|not provided [RCV000968693] | benign|likely benign | 12 | 122477836 | 122477836 | Human | 1 | name |
| 127238937 | CV1079131 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1141-14C>T | not provided [RCV001415194] | likely benign | 12 | 122478306 | 122478306 | Human | | name |
| 152086728 | CV1531803 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1228-13G>A | not provided [RCV002077083] | likely benign | 12 | 122477971 | 122477971 | Human | | name |
| 152096195 | CV1599662 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1140+20T>A | not provided [RCV002151234] | likely benign | 12 | 122480170 | 122480170 | Human | | name |
| 152157324 | CV1615901 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1345+10A>G | not provided [RCV002159010] | likely benign | 12 | 122477831 | 122477831 | Human | | name |
| 152980864 | CV1676180 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1140+29A>G | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV002245258]|not provided [RCV004707804] | benign | 12 | 122480161 | 122480161 | Human | 1 | name |
| 156414885 | CV1955156 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1228-13G>C | not provided [RCV002588860] | likely benign | 12 | 122477971 | 122477971 | Human | | name |
| 156410547 | CV1958424 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1228-18G>A | not provided [RCV002587188] | likely benign | 12 | 122477976 | 122477976 | Human | | name |
| 156128490 | CV1966100 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1019-16T>A | not provided [RCV002593404] | likely benign | 12 | 122480327 | 122480327 | Human | | name |
| 156354871 | CV2129811 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1019-10T>C | not provided [RCV002966579] | likely benign | 12 | 122480321 | 122480321 | Human | | name |
| 405164963 | CV2905616 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1018+16T>C | not provided [RCV003562594] | likely benign | 12 | 122481506 | 122481506 | Human | | name |
| 405151919 | CV2949167 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1018+13A>C | not provided [RCV003674072] | likely benign | 12 | 122481509 | 122481509 | Human | | name |
| 597916173 | CV3779323 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1228-18G>T | not provided [RCV005129464] | likely benign | 12 | 122477976 | 122477976 | Human | | name |
| 597891083 | CV3784854 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1018+19G>C | not provided [RCV005125633] | likely benign | 12 | 122481503 | 122481503 | Human | | name |
| 8653608 | CV130183 | single nucleotide variant | NM_017612.4(ZCCHC8):c.243-2145A>G | Lung cancer [RCV000110670] | uncertain significance | 12 | 122494934 | 122494934 | Human | | name |
| 152107331 | CV1579360 | single nucleotide variant | NM_017612.5(ZCCHC8):c.75G>A (p.Lys25=) | not provided [RCV002173886] | likely benign | 12 | 122500766 | 122500766 | Human | | name |
| 156228038 | CV2081200 | duplication | NM_017612.5(ZCCHC8):c.243-15_243-14dup | not provided [RCV002853464] | likely benign | 12 | 122492802 | 122492803 | Human | | name |
| 405237881 | CV2969912 | single nucleotide variant | NM_017612.5(ZCCHC8):c.84C>T (p.His28=) | not provided [RCV003683330] | likely benign | 12 | 122500757 | 122500757 | Human | | name |
| 597954466 | CV3812642 | single nucleotide variant | NM_017612.5(ZCCHC8):c.78C>G (p.Pro26=) | not provided [RCV005161916] | likely benign | 12 | 122500763 | 122500763 | Human | | name |
| 152067291 | CV1534629 | single nucleotide variant | NM_017612.5(ZCCHC8):c.258C>T (p.Asn86=) | not provided [RCV002110959] | likely benign | 12 | 122492774 | 122492774 | Human | | name |
| 152145849 | CV1543336 | single nucleotide variant | NM_017612.5(ZCCHC8):c.255G>A (p.Val85=) | ZCCHC8-related disorder [RCV003933652]|not provided [RCV002178710] | likely benign | 12 | 122492777 | 122492777 | Human | 1 | name , trait , alternate_id |
| 152026411 | CV1582840 | single nucleotide variant | NM_017612.5(ZCCHC8):c.240G>C (p.Pro80=) | not provided [RCV002084789] | likely benign | 12 | 122498829 | 122498829 | Human | | name |
| 152139704 | CV1638291 | single nucleotide variant | NM_017612.5(ZCCHC8):c.156G>T (p.Arg52=) | not provided [RCV002177894] | likely benign | 12 | 122500685 | 122500685 | Human | | name |
| 152103345 | CV1657009 | deletion | NM_017612.5(ZCCHC8):c.1141-13_1141-9del | not provided [RCV002195831] | likely benign | 12 | 122478301 | 122478305 | Human | | name |
| 152172772 | CV1658868 | single nucleotide variant | NM_017612.5(ZCCHC8):c.132C>G (p.Val44=) | not provided [RCV002162572] | likely benign | 12 | 122500709 | 122500709 | Human | | name |
| 156414176 | CV1915788 | single nucleotide variant | NM_017612.5(ZCCHC8):c.195C>T (p.Ala65=) | not provided [RCV002588455] | likely benign | 12 | 122500646 | 122500646 | Human | | name |
| 156345308 | CV2051834 | single nucleotide variant | NM_017612.5(ZCCHC8):c.23G>A (p.Gly8Asp) | not provided [RCV002811430] | uncertain significance | 12 | 122500818 | 122500818 | Human | | name |
| 156338438 | CV2178390 | single nucleotide variant | NM_017612.5(ZCCHC8):c.237A>G (p.Arg79=) | not provided [RCV003047609] | likely benign | 12 | 122498832 | 122498832 | Human | | name |
| 402501332 | CV3010382 | single nucleotide variant | NM_017612.5(ZCCHC8):c.192C>T (p.Arg64=) | not provided [RCV003688442] | likely benign | 12 | 122500649 | 122500649 | Human | | name |
| 597897339 | CV3834714 | single nucleotide variant | NM_017612.5(ZCCHC8):c.246A>C (p.Gly82=) | not provided [RCV005180625] | likely benign | 12 | 122492786 | 122492786 | Human | | name |
| 15135460 | CV768923 | single nucleotide variant | NM_017612.5(ZCCHC8):c.240G>A (p.Pro80=) | not provided [RCV000942924] | likely benign | 12 | 122498829 | 122498829 | Human | | name |
| 126760227 | CV1030687 | single nucleotide variant | NM_017612.5(ZCCHC8):c.606G>A (p.Lys202=) | not provided [RCV001340352] | uncertain significance | 12 | 122483344 | 122483344 | Human | | name |
| 151746826 | CV1366094 | single nucleotide variant | NM_017612.5(ZCCHC8):c.95A>C (p.Lys32Thr) | not provided [RCV001893875]|not specified [RCV004887683] | uncertain significance | 12 | 122500746 | 122500746 | Human | | name |
| 151717587 | CV1368448 | single nucleotide variant | NM_017612.5(ZCCHC8):c.35T>A (p.Leu12His) | not provided [RCV001965453] | uncertain significance | 12 | 122500806 | 122500806 | Human | | name |
| 151870657 | CV1371749 | single nucleotide variant | NM_017612.5(ZCCHC8):c.58G>A (p.Glu20Lys) | not provided [RCV001960376]|not specified [RCV004043203] | uncertain significance | 12 | 122500783 | 122500783 | Human | | name |
| 151788416 | CV1376938 | single nucleotide variant | NM_017612.5(ZCCHC8):c.76C>T (p.Pro26Ser) | not provided [RCV001897938] | uncertain significance | 12 | 122500765 | 122500765 | Human | | name |
| 152037383 | CV1524888 | single nucleotide variant | NM_017612.5(ZCCHC8):c.888A>G (p.Gln296=) | not provided [RCV002165175] | likely benign | 12 | 122481652 | 122481652 | Human | | name |
| 152050172 | CV1527729 | single nucleotide variant | NM_017612.5(ZCCHC8):c.879G>A (p.Glu293=) | not provided [RCV002089054] | likely benign | 12 | 122481661 | 122481661 | Human | | name |
| 152143110 | CV1556838 | single nucleotide variant | NM_017612.5(ZCCHC8):c.918T>C (p.Leu306=) | not provided [RCV002200834] | likely benign | 12 | 122481622 | 122481622 | Human | | name |
| 152103901 | CV1574694 | single nucleotide variant | NM_017612.5(ZCCHC8):c.585C>T (p.Ser195=) | ZCCHC8-related disorder [RCV003913658]|not provided [RCV002095891] | likely benign | 12 | 122483480 | 122483480 | Human | 1 | name , trait , alternate_id |
| 152119643 | CV1576053 | single nucleotide variant | NM_017612.5(ZCCHC8):c.378G>A (p.Gln126=) | not provided [RCV002197871] | likely benign | 12 | 122490507 | 122490507 | Human | | name |
| 152170702 | CV1592542 | single nucleotide variant | NM_017612.5(ZCCHC8):c.936G>C (p.Arg312=) | not provided [RCV002161859] | likely benign | 12 | 122481604 | 122481604 | Human | | name |
| 152095119 | CV1597294 | single nucleotide variant | NM_017612.5(ZCCHC8):c.426A>G (p.Pro142=) | not provided [RCV002114600] | likely benign | 12 | 122489461 | 122489461 | Human | | name |
| 152048782 | CV1615040 | single nucleotide variant | NM_017612.5(ZCCHC8):c.789A>G (p.Gly263=) | not provided [RCV002088877] | likely benign | 12 | 122482031 | 122482031 | Human | | name |
| 152038912 | CV1647877 | single nucleotide variant | NM_017612.5(ZCCHC8):c.825C>T (p.His275=) | not provided [RCV002087661] | likely benign | 12 | 122481995 | 122481995 | Human | | name |
| 156054480 | CV1928645 | single nucleotide variant | NM_017612.5(ZCCHC8):c.474C>T (p.Ala158=) | not provided [RCV002620721] | likely benign | 12 | 122489413 | 122489413 | Human | | name |
| 156445910 | CV1952162 | deletion | NM_017612.5(ZCCHC8):c.1141-11_1141-10del | not provided [RCV003116873] | likely benign | 12 | 122478302 | 122478303 | Human | | name |
| 156260763 | CV1960631 | single nucleotide variant | NM_017612.5(ZCCHC8):c.558G>A (p.Pro186=) | not provided [RCV002576837] | likely benign | 12 | 122483507 | 122483507 | Human | | name |
| 156223711 | CV2005860 | single nucleotide variant | NM_017612.5(ZCCHC8):c.693T>C (p.Asn231=) | not provided [RCV002667322] | likely benign | 12 | 122482674 | 122482674 | Human | | name |
| 155971620 | CV2024847 | single nucleotide variant | NM_017612.5(ZCCHC8):c.547T>C (p.Leu183=) | not provided [RCV002754919] | likely benign | 12 | 122483518 | 122483518 | Human | | name |
| 156145217 | CV2037281 | single nucleotide variant | NM_017612.5(ZCCHC8):c.936G>A (p.Arg312=) | not provided [RCV002786662] | likely benign | 12 | 122481604 | 122481604 | Human | | name |
| 156083408 | CV2060299 | single nucleotide variant | NM_017612.5(ZCCHC8):c.74A>G (p.Lys25Arg) | not provided [RCV002823931] | uncertain significance | 12 | 122500767 | 122500767 | Human | | name |
| 155930309 | CV2067239 | deletion | NM_017612.5(ZCCHC8):c.1346-16_1346-12del | not provided [RCV002838729] | likely benign | 12 | 122474287 | 122474291 | Human | | name |
| 156352721 | CV2118770 | single nucleotide variant | NM_017612.5(ZCCHC8):c.666A>C (p.Ala222=) | not provided [RCV002966419] | likely benign | 12 | 122483284 | 122483284 | Human | | name |
| 156306199 | CV2129785 | single nucleotide variant | NM_017612.5(ZCCHC8):c.444G>A (p.Glu148=) | not provided [RCV002962377] | likely benign | 12 | 122489443 | 122489443 | Human | | name |
| 156087883 | CV2241360 | single nucleotide variant | NM_017612.5(ZCCHC8):c.95A>G (p.Lys32Arg) | not specified [RCV004102494] | uncertain significance | 12 | 122500746 | 122500746 | Human | | name |
| 156056179 | CV2326644 | single nucleotide variant | NM_017612.5(ZCCHC8):c.94A>C (p.Lys32Gln) | not specified [RCV004183178] | uncertain significance | 12 | 122500747 | 122500747 | Human | | name |
| 401895775 | CV2778809 | single nucleotide variant | NM_017612.5(ZCCHC8):c.28C>A (p.Leu10Ile) | not provided [RCV005104130]|not specified [RCV004346707] | uncertain significance | 12 | 122500813 | 122500813 | Human | | name |
| 405075816 | CV2948593 | single nucleotide variant | NM_017612.5(ZCCHC8):c.957A>C (p.Pro319=) | not provided [RCV003664253] | likely benign | 12 | 122481583 | 122481583 | Human | | name |
| 405221396 | CV2966160 | single nucleotide variant | NM_017612.5(ZCCHC8):c.41A>C (p.Glu14Ala) | not provided [RCV003680741] | uncertain significance | 12 | 122500800 | 122500800 | Human | | name |
| 402482469 | CV3001291 | single nucleotide variant | NM_017612.5(ZCCHC8):c.50A>G (p.Asp17Gly) | not provided [RCV003686722] | uncertain significance | 12 | 122500791 | 122500791 | Human | | name |
| 405032502 | CV3009134 | single nucleotide variant | NM_017612.5(ZCCHC8):c.987G>A (p.Glu329=) | not provided [RCV003695678] | likely benign | 12 | 122481553 | 122481553 | Human | | name |
| 404980059 | CV3009782 | single nucleotide variant | NM_017612.5(ZCCHC8):c.71C>T (p.Pro24Leu) | not provided [RCV003691072] | uncertain significance | 12 | 122500770 | 122500770 | Human | | name |
| 405044408 | CV3017608 | single nucleotide variant | NM_017612.5(ZCCHC8):c.840A>G (p.Glu280=) | not provided [RCV003696556] | likely benign | 12 | 122481980 | 122481980 | Human | | name |
| 405108840 | CV3136614 | single nucleotide variant | NM_017612.5(ZCCHC8):c.651A>G (p.Glu217=) | not provided [RCV003835768] | likely benign | 12 | 122483299 | 122483299 | Human | | name |
| 405068927 | CV3148937 | single nucleotide variant | NM_017612.5(ZCCHC8):c.97G>A (p.Asp33Asn) | not provided [RCV003850699] | uncertain significance | 12 | 122500744 | 122500744 | Human | | name |
| 405207191 | CV3149350 | single nucleotide variant | NM_017612.5(ZCCHC8):c.969C>T (p.Leu323=) | not provided [RCV003845260] | likely benign | 12 | 122481571 | 122481571 | Human | | name |
| 597857691 | CV3769532 | single nucleotide variant | NM_017612.5(ZCCHC8):c.819A>G (p.Arg273=) | not provided [RCV005105573] | likely benign | 12 | 122482001 | 122482001 | Human | | name |
| 597893650 | CV3809973 | single nucleotide variant | NM_017612.5(ZCCHC8):c.774T>C (p.Tyr258=) | not provided [RCV005151694] | likely benign | 12 | 122482046 | 122482046 | Human | | name |
| 127316855 | CV1156933 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1479G>A (p.Pro493=) | not provided [RCV001520730] | benign | 12 | 122474142 | 122474142 | Human | | name |
| 127318631 | CV1156934 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1221C>T (p.Phe407=) | not provided [RCV001521732] | benign | 12 | 122478212 | 122478212 | Human | | name |
| 151857050 | CV1347940 | single nucleotide variant | NM_017612.5(ZCCHC8):c.242G>A (p.Ser81Asn) | not provided [RCV001979654] | uncertain significance | 12 | 122498827 | 122498827 | Human | | name |
| 151765642 | CV1358875 | single nucleotide variant | NM_017612.5(ZCCHC8):c.139G>T (p.Ala47Ser) | not provided [RCV001970667] | uncertain significance | 12 | 122500702 | 122500702 | Human | | name |
| 151812663 | CV1367570 | single nucleotide variant | NM_017612.5(ZCCHC8):c.263C>G (p.Thr88Ser) | not provided [RCV001878426] | uncertain significance | 12 | 122492769 | 122492769 | Human | | name |
| 151837818 | CV1383349 | single nucleotide variant | NM_017612.5(ZCCHC8):c.152A>T (p.Glu51Val) | not provided [RCV001935745] | uncertain significance | 12 | 122500689 | 122500689 | Human | | name |
| 151733249 | CV1386643 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1635G>A (p.Val545=) | ZCCHC8-related disorder [RCV004752092]|not provided [RCV001911096] | likely benign|uncertain significance | 12 | 122473986 | 122473986 | Human | 1 | name , trait , alternate_id |
| 151719687 | CV1397652 | single nucleotide variant | NM_017612.5(ZCCHC8):c.251T>G (p.Leu84Trp) | not provided [RCV001982869]|not specified [RCV004043718] | uncertain significance | 12 | 122492781 | 122492781 | Human | | name |
| 151830250 | CV1405391 | single nucleotide variant | NM_017612.5(ZCCHC8):c.140C>T (p.Ala47Val) | not provided [RCV001901739]|not specified [RCV004042628] | uncertain significance | 12 | 122500701 | 122500701 | Human | | name |
| 151834586 | CV1429117 | single nucleotide variant | NM_017612.5(ZCCHC8):c.212A>G (p.Lys71Arg) | not provided [RCV001994055] | uncertain significance | 12 | 122498857 | 122498857 | Human | | name |
| 151761605 | CV1433697 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1140C>T (p.Asp380=) | not provided [RCV002024431] | uncertain significance | 12 | 122480190 | 122480190 | Human | | name |
| 151828659 | CV1462127 | single nucleotide variant | NM_017612.5(ZCCHC8):c.163C>T (p.Gln55Ter) | not provided [RCV001993489] | uncertain significance | 12 | 122500678 | 122500678 | Human | | name |
| 151778209 | CV1493287 | single nucleotide variant | NM_017612.5(ZCCHC8):c.259G>A (p.Asp87Asn) | not provided [RCV001915628]|not specified [RCV004042683] | likely benign|uncertain significance | 12 | 122492773 | 122492773 | Human | | name |
| 151722995 | CV1498269 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1539C>T (p.Asp513=) | not provided [RCV001983339] | likely benign | 12 | 122474082 | 122474082 | Human | | name |
| 151756224 | CV1517004 | single nucleotide variant | NM_017612.5(ZCCHC8):c.116A>T (p.Glu39Val) | not provided [RCV002043772] | uncertain significance | 12 | 122500725 | 122500725 | Human | | name |
| 152073090 | CV1522913 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1623C>T (p.Ser541=) | not provided [RCV002148350] | likely benign | 12 | 122473998 | 122473998 | Human | | name |
| 152175739 | CV1527139 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1710A>G (p.Gly570=) | not provided [RCV002163875] | likely benign | 12 | 122473911 | 122473911 | Human | | name |
| 152037340 | CV1530538 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1077C>T (p.Tyr359=) | not provided [RCV002107213] | likely benign | 12 | 122480253 | 122480253 | Human | | name |
| 152157761 | CV1541845 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1839G>A (p.Glu613=) | not provided [RCV002103202] | likely benign | 12 | 122473782 | 122473782 | Human | | name |
| 152033110 | CV1542604 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1743T>G (p.Pro581=) | not provided [RCV002106505] | likely benign | 12 | 122473878 | 122473878 | Human | | name |
| 152133226 | CV1547082 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1974C>T (p.Ser658=) | ZCCHC8-related disorder [RCV003903567]|not provided [RCV002155812] | likely benign | 12 | 122473647 | 122473647 | Human | 1 | name , trait , alternate_id |
| 152124986 | CV1553986 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1326C>T (p.Ala442=) | not provided [RCV002098692]|not specified [RCV004686719] | likely benign | 12 | 122477860 | 122477860 | Human | | name |
| 152164420 | CV1557600 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1509C>T (p.Thr503=) | not provided [RCV002141516] | likely benign | 12 | 122474112 | 122474112 | Human | | name |
| 152111938 | CV1558851 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1446C>T (p.Pro482=) | not provided [RCV002134595] | benign | 12 | 122474175 | 122474175 | Human | | name |
| 152105473 | CV1559919 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1467A>G (p.Pro489=) | not provided [RCV002133794] | likely benign | 12 | 122474154 | 122474154 | Human | | name |
| 152117447 | CV1566630 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1338C>T (p.Leu446=) | not provided [RCV002153832] | likely benign | 12 | 122477848 | 122477848 | Human | | name |
| 152061086 | CV1597151 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1005C>T (p.Leu335=) | not provided [RCV002208659] | likely benign | 12 | 122481535 | 122481535 | Human | | name |
| 152090883 | CV1629119 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1254G>A (p.Arg418=) | ZCCHC8-related disorder [RCV003971021]|not provided [RCV002114058] | likely benign | 12 | 122477932 | 122477932 | Human | 1 | name , trait , alternate_id |
| 152066977 | CV1636742 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1749A>G (p.Val583=) | not provided [RCV002110921] | likely benign | 12 | 122473872 | 122473872 | Human | | name |
| 152040384 | CV1649183 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1377C>T (p.Ser459=) | not provided [RCV002206256] | likely benign | 12 | 122474244 | 122474244 | Human | | name |
| 152049464 | CV1656217 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2121A>G (p.Glu707=) | not provided [RCV002207333] | likely benign | 12 | 122473500 | 122473500 | Human | | name |
| 152165028 | CV1658527 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1482G>A (p.Pro494=) | ZCCHC8-related disorder [RCV003933486]|not provided [RCV002160367] | likely benign | 12 | 122474139 | 122474139 | Human | 1 | name , trait , alternate_id |
| 152166184 | CV1661182 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1731G>A (p.Thr577=) | not provided [RCV002124174] | likely benign | 12 | 122473890 | 122473890 | Human | | name |
| 156008038 | CV1870580 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1941C>T (p.Asp647=) | not provided [RCV003076927] | likely benign | 12 | 122473680 | 122473680 | Human | | name |
| 155945978 | CV1911303 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1956G>T (p.Thr652=) | ZCCHC8-related disorder [RCV003898866]|not provided [RCV002615935] | likely benign | 12 | 122473665 | 122473665 | Human | 1 | name , trait , alternate_id |
| 156020178 | CV1915043 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1509C>A (p.Thr503=) | not provided [RCV002636670] | likely benign | 12 | 122474112 | 122474112 | Human | | name |
| 156376520 | CV1917699 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1680A>C (p.Pro560=) | not provided [RCV002603627] | likely benign | 12 | 122473941 | 122473941 | Human | | name |
| 156370882 | CV1923531 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1887C>T (p.Val629=) | not provided [RCV002633373] | likely benign | 12 | 122473734 | 122473734 | Human | | name |
| 156449060 | CV1944313 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1632T>G (p.Pro544=) | not provided [RCV003121171] | likely benign | 12 | 122473989 | 122473989 | Human | | name |
| 156226757 | CV1958803 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1956G>A (p.Thr652=) | not provided [RCV002596658] | likely benign | 12 | 122473665 | 122473665 | Human | | name |
| 156189897 | CV1961627 | single nucleotide variant | NM_017612.5(ZCCHC8):c.280A>T (p.Ile94Leu) | not provided [RCV002574376] | uncertain significance | 12 | 122492752 | 122492752 | Human | | name |
| 156280579 | CV1967901 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1857T>C (p.Thr619=) | not provided [RCV002598381] | likely benign | 12 | 122473764 | 122473764 | Human | | name |
| 156270244 | CV1970914 | single nucleotide variant | NM_017612.5(ZCCHC8):c.196G>A (p.Glu66Lys) | Inherited aplastic anemia [RCV003991541]|not provided [RCV002598067] | likely pathogenic|uncertain significance | 12 | 122500645 | 122500645 | Human | 1 | name |
| 156352835 | CV1974728 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1089A>G (p.Lys363=) | not provided [RCV002601948] | likely benign | 12 | 122480241 | 122480241 | Human | | name |
| 156348273 | CV1989247 | single nucleotide variant | NM_017612.5(ZCCHC8):c.203A>G (p.Gln68Arg) | not provided [RCV002631795]|not specified [RCV004877746] | uncertain significance | 12 | 122498866 | 122498866 | Human | | name |
| 156047313 | CV1996650 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1227G>A (p.Ala409=) | not provided [RCV002659249] | uncertain significance | 12 | 122478206 | 122478206 | Human | | name |
| 156342371 | CV1998292 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1638C>T (p.Asp546=) | not provided [RCV002650383] | likely benign | 12 | 122473983 | 122473983 | Human | | name |
| 156017389 | CV2061708 | single nucleotide variant | NM_017612.5(ZCCHC8):c.288G>T (p.Gln96His) | not provided [RCV002820445] | uncertain significance | 12 | 122492744 | 122492744 | Human | | name |
| 155990373 | CV2066775 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1623C>A (p.Ser541=) | not provided [RCV002842934] | likely benign | 12 | 122473998 | 122473998 | Human | | name |
| 156208418 | CV2103888 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1587A>G (p.Ala529=) | not provided [RCV002931957] | likely benign | 12 | 122474034 | 122474034 | Human | | name |
| 156195723 | CV2175507 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1440T>C (p.Pro480=) | not provided [RCV003057986] | likely benign | 12 | 122474181 | 122474181 | Human | | name |
| 401900098 | CV2780418 | single nucleotide variant | NM_017612.5(ZCCHC8):c.259G>C (p.Asp87His) | not specified [RCV004357809] | uncertain significance | 12 | 122492773 | 122492773 | Human | | name |
| 401932563 | CV2817038 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1425C>A (p.Leu475=) | not provided [RCV003392164] | likely benign | 12 | 122474196 | 122474196 | Human | | name |
| 402485619 | CV2865178 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1887C>G (p.Val629=) | not provided [RCV003544442] | likely benign | 12 | 122473734 | 122473734 | Human | | name |
| 405127467 | CV2883095 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1362T>C (p.His454=) | not provided [RCV003559712] | likely benign | 12 | 122474259 | 122474259 | Human | | name |
| 405165280 | CV2905867 | single nucleotide variant | NM_017612.5(ZCCHC8):c.190C>T (p.Arg64Cys) | not provided [RCV003562689] | uncertain significance | 12 | 122500651 | 122500651 | Human | | name |
| 405135773 | CV2906902 | single nucleotide variant | NM_017612.5(ZCCHC8):c.292C>G (p.Leu98Val) | not provided [RCV003560435] | uncertain significance | 12 | 122492740 | 122492740 | Human | | name |
| 402473416 | CV2908957 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1725G>A (p.Lys575=) | not provided [RCV003570993] | likely benign | 12 | 122473896 | 122473896 | Human | | name |
| 405032387 | CV2922592 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1515A>G (p.Thr505=) | not provided [RCV003578456] | likely benign | 12 | 122474106 | 122474106 | Human | | name |
| 402519015 | CV2936584 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2082C>T (p.Asn694=) | not provided [RCV003663106] | likely benign | 12 | 122473539 | 122473539 | Human | | name |
| 405118693 | CV2957411 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1689A>G (p.Leu563=) | not provided [RCV003667204] | likely benign | 12 | 122473932 | 122473932 | Human | | name |
| 405089419 | CV3025172 | single nucleotide variant | NM_017612.5(ZCCHC8):c.154C>T (p.Arg52Trp) | not provided [RCV003699632] | uncertain significance | 12 | 122500687 | 122500687 | Human | | name |
| 405092214 | CV3026016 | single nucleotide variant | NM_017612.5(ZCCHC8):c.199A>G (p.Asn67Asp) | not provided [RCV003699811] | uncertain significance | 12 | 122500642 | 122500642 | Human | | name |
| 402509717 | CV3042441 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2123A>G (p.Ter708=) | not provided [RCV003715582] | likely benign | 12 | 122473498 | 122473498 | Human | | name |
| 405141684 | CV3046046 | single nucleotide variant | NM_017612.5(ZCCHC8):c.191G>T (p.Arg64Leu) | not provided [RCV003725654] | uncertain significance | 12 | 122500650 | 122500650 | Human | | name |
| 404982559 | CV3121510 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1143A>G (p.Glu381=) | not provided [RCV003826309] | likely benign | 12 | 122478290 | 122478290 | Human | | name |
| 405186136 | CV3124295 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1602C>T (p.Ala534=) | not provided [RCV003820494] | likely benign | 12 | 122474019 | 122474019 | Human | | name |
| 405138467 | CV3130799 | single nucleotide variant | NM_017612.5(ZCCHC8):c.227T>C (p.Ile76Thr) | not provided [RCV003839033] | uncertain significance | 12 | 122498842 | 122498842 | Human | | name |
| 405220421 | CV3154408 | single nucleotide variant | NM_017612.5(ZCCHC8):c.115G>A (p.Glu39Lys) | not provided [RCV003847100]|not specified [RCV004366958] | uncertain significance | 12 | 122500726 | 122500726 | Human | | name |
| 405222456 | CV3154936 | single nucleotide variant | NM_017612.5(ZCCHC8):c.133G>A (p.Gly45Ser) | not provided [RCV003847432] | uncertain significance | 12 | 122500708 | 122500708 | Human | | name |
| 405139469 | CV3155078 | single nucleotide variant | NM_017612.5(ZCCHC8):c.214C>T (p.Arg72Ter) | not provided [RCV003855316] | uncertain significance | 12 | 122498855 | 122498855 | Human | | name |
| 405244797 | CV3161607 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1932T>C (p.Phe644=) | not provided [RCV003868320] | likely benign | 12 | 122473689 | 122473689 | Human | | name |
| 404992933 | CV3176331 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1323C>T (p.Pro441=) | not provided [RCV003881763] | likely benign | 12 | 122477863 | 122477863 | Human | | name |
| 402502041 | CV3180937 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2088C>T (p.Pro696=) | not provided [RCV003877954] | likely benign | 12 | 122473533 | 122473533 | Human | | name |
| 597793084 | CV3630921 | single nucleotide variant | NM_017612.5(ZCCHC8):c.200A>G (p.Asn67Ser) | not specified [RCV004877201] | uncertain significance | 12 | 122498869 | 122498869 | Human | | name |
| 597793091 | CV3630925 | single nucleotide variant | NM_017612.5(ZCCHC8):c.161G>A (p.Arg54Gln) | not specified [RCV004877203] | uncertain significance | 12 | 122500680 | 122500680 | Human | | name |
| 597921221 | CV3738168 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1290G>A (p.Lys430=) | not provided [RCV005074767] | likely benign | 12 | 122477896 | 122477896 | Human | | name |
| 597880301 | CV3744805 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1764A>G (p.Thr588=) | not provided [RCV005069830] | likely benign | 12 | 122473857 | 122473857 | Human | | name |
| 597956095 | CV3754536 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1812A>G (p.Thr604=) | not provided [RCV005080386] | likely benign | 12 | 122473809 | 122473809 | Human | | name |
| 597836655 | CV3757723 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1959C>T (p.Ala653=) | not provided [RCV005085737] | likely benign | 12 | 122473662 | 122473662 | Human | | name |
| 597889205 | CV3804799 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1176A>G (p.Ala392=) | not provided [RCV005151061] | likely benign | 12 | 122478257 | 122478257 | Human | | name |
| 597889749 | CV3804880 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2007A>T (p.Gly669=) | not provided [RCV005151142] | likely benign | 12 | 122473614 | 122473614 | Human | | name |
| 597955420 | CV3809464 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1326C>A (p.Ala442=) | not provided [RCV005162189] | likely benign | 12 | 122477860 | 122477860 | Human | | name |
| 597916122 | CV3814583 | deletion | NM_017612.5(ZCCHC8):c.436del (p.Val146fs) | not provided [RCV005154898] | uncertain significance | 12 | 122489451 | 122489451 | Human | | name |
| 597860329 | CV3817261 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1617C>T (p.Ser539=) | not provided [RCV005146641] | likely benign | 12 | 122474004 | 122474004 | Human | | name |
| 15140601 | CV713394 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2073G>A (p.Leu691=) | not provided [RCV000966165] | benign | 12 | 122473548 | 122473548 | Human | | name |
| 15115896 | CV768922 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1848G>A (p.Pro616=) | not provided [RCV000939570] | likely benign | 12 | 122473773 | 122473773 | Human | | name |
| 126745899 | CV1017578 | single nucleotide variant | NM_017612.5(ZCCHC8):c.508G>A (p.Gly170Arg) | Dyskeratosis congenita [RCV003991540]|Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV001330759] | likely pathogenic|uncertain significance | 12 | 122483557 | 122483557 | Human | 2 | name |
| 126770209 | CV1030685 | single nucleotide variant | NM_017612.5(ZCCHC8):c.934C>T (p.Arg312Trp) | not provided [RCV001344345] | uncertain significance | 12 | 122481606 | 122481606 | Human | | name |
| 126746049 | CV1030686 | single nucleotide variant | NM_017612.5(ZCCHC8):c.826G>A (p.Ala276Thr) | not provided [RCV001337276] | uncertain significance | 12 | 122481994 | 122481994 | Human | | name |
| 151791584 | CV1375638 | single nucleotide variant | NM_017612.5(ZCCHC8):c.912G>C (p.Lys304Asn) | not provided [RCV001973104] | uncertain significance | 12 | 122481628 | 122481628 | Human | | name |
| 151778030 | CV1436761 | single nucleotide variant | NM_017612.5(ZCCHC8):c.777G>A (p.Met259Ile) | not provided [RCV001971816] | uncertain significance | 12 | 122482043 | 122482043 | Human | | name |
| 151806592 | CV1453468 | single nucleotide variant | NM_017612.5(ZCCHC8):c.318G>T (p.Lys106Asn) | not provided [RCV001877858] | uncertain significance | 12 | 122490567 | 122490567 | Human | | name |
| 151714573 | CV1469863 | single nucleotide variant | NM_017612.5(ZCCHC8):c.425C>T (p.Pro142Leu) | not provided [RCV001890064]|not specified [RCV004041119] | uncertain significance | 12 | 122489462 | 122489462 | Human | | name |
| 151753162 | CV1480122 | single nucleotide variant | NM_017612.5(ZCCHC8):c.492A>C (p.Glu164Asp) | not provided [RCV001927727] | uncertain significance | 12 | 122489395 | 122489395 | Human | | name |
| 151726818 | CV1482342 | single nucleotide variant | NM_017612.5(ZCCHC8):c.635C>G (p.Ser212Cys) | not provided [RCV002020880] | uncertain significance | 12 | 122483315 | 122483315 | Human | | name |
| 151847189 | CV1483948 | single nucleotide variant | NM_017612.5(ZCCHC8):c.941G>A (p.Arg314His) | not provided [RCV001903592] | uncertain significance | 12 | 122481599 | 122481599 | Human | | name |
| 151867939 | CV1493805 | single nucleotide variant | NM_017612.5(ZCCHC8):c.835G>A (p.Val279Ile) | not provided [RCV001960055] | uncertain significance | 12 | 122481985 | 122481985 | Human | | name |
| 151761689 | CV1502941 | single nucleotide variant | NM_017612.5(ZCCHC8):c.454A>G (p.Lys152Glu) | not provided [RCV001914064]|not specified [RCV004044047] | uncertain significance | 12 | 122489433 | 122489433 | Human | | name |
| 152078381 | CV1666471 | single nucleotide variant | NM_017612.5(ZCCHC8):c.550G>A (p.Gly184Arg) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV002210909] | uncertain significance | 12 | 122483515 | 122483515 | Human | 1 | name |
| 155681225 | CV1776701 | single nucleotide variant | NM_017612.5(ZCCHC8):c.740A>G (p.Asn247Ser) | not provided [RCV002298247] | uncertain significance | 12 | 122482080 | 122482080 | Human | | name |
| 156375534 | CV1917535 | single nucleotide variant | NM_017612.5(ZCCHC8):c.880G>A (p.Glu294Lys) | not provided [RCV002603545] | uncertain significance | 12 | 122481660 | 122481660 | Human | | name |
| 156035461 | CV1921341 | single nucleotide variant | NM_017612.5(ZCCHC8):c.910A>C (p.Lys304Gln) | not provided [RCV002620032] | uncertain significance | 12 | 122481630 | 122481630 | Human | | name |
| 156088077 | CV1953380 | single nucleotide variant | NM_017612.5(ZCCHC8):c.664G>A (p.Ala222Thr) | not provided [RCV002570128] | uncertain significance | 12 | 122483286 | 122483286 | Human | | name |
| 156155232 | CV1967612 | single nucleotide variant | NM_017612.5(ZCCHC8):c.737G>A (p.Arg246Gln) | not provided [RCV002594278] | uncertain significance | 12 | 122482083 | 122482083 | Human | | name |
| 156143202 | CV1973704 | single nucleotide variant | NM_017612.5(ZCCHC8):c.346G>A (p.Val116Ile) | not provided [RCV002593902] | uncertain significance | 12 | 122490539 | 122490539 | Human | | name |
| 156392814 | CV1986449 | single nucleotide variant | NM_017612.5(ZCCHC8):c.731T>C (p.Met244Thr) | not provided [RCV002604826] | uncertain significance | 12 | 122482636 | 122482636 | Human | | name |
| 155999766 | CV1987098 | single nucleotide variant | NM_017612.5(ZCCHC8):c.386A>G (p.Asn129Ser) | not provided [RCV002618390] | uncertain significance | 12 | 122490499 | 122490499 | Human | | name |
| 155939398 | CV1995847 | single nucleotide variant | NM_017612.5(ZCCHC8):c.869T>C (p.Val290Ala) | not provided [RCV002685362] | uncertain significance | 12 | 122481951 | 122481951 | Human | | name |
| 156285139 | CV2012722 | single nucleotide variant | NM_017612.5(ZCCHC8):c.868G>A (p.Val290Ile) | not provided [RCV002715432]|not specified [RCV005301173] | uncertain significance | 12 | 122481952 | 122481952 | Human | | name |
| 156324577 | CV2108449 | single nucleotide variant | NM_017612.5(ZCCHC8):c.674C>G (p.Pro225Arg) | not provided [RCV002937994] | uncertain significance | 12 | 122482693 | 122482693 | Human | | name |
| 156254888 | CV2162891 | single nucleotide variant | NM_017612.5(ZCCHC8):c.541G>C (p.Asp181His) | not provided [RCV003026465] | uncertain significance | 12 | 122483524 | 122483524 | Human | | name |
| 156070924 | CV2172617 | single nucleotide variant | NM_017612.5(ZCCHC8):c.930C>G (p.Ile310Met) | not provided [RCV003053714] | uncertain significance | 12 | 122481610 | 122481610 | Human | | name |
| 156341862 | CV2175922 | single nucleotide variant | NM_017612.5(ZCCHC8):c.323A>G (p.Tyr108Cys) | not provided [RCV003030328] | uncertain significance | 12 | 122490562 | 122490562 | Human | | name |
| 156241793 | CV2246155 | single nucleotide variant | NM_017612.5(ZCCHC8):c.698G>A (p.Gly233Asp) | not specified [RCV004107627] | uncertain significance | 12 | 122482669 | 122482669 | Human | | name |
| 329396312 | CV2462501 | single nucleotide variant | NM_017612.5(ZCCHC8):c.835G>T (p.Val279Leu) | not provided [RCV005061092]|not specified [RCV004276677] | uncertain significance | 12 | 122481985 | 122481985 | Human | | name |
| 405689835 | CV2794329 | single nucleotide variant | NM_017612.5(ZCCHC8):c.586G>A (p.Glu196Lys) | Dyskeratosis congenita [RCV003991544] | uncertain significance | 12 | 122483479 | 122483479 | Human | 1 | name |
| 405689841 | CV2794330 | single nucleotide variant | NM_017612.5(ZCCHC8):c.337G>A (p.Glu113Lys) | Dyskeratosis congenita [RCV003991545] | likely pathogenic | 12 | 122490548 | 122490548 | Human | 1 | name |
| 405689847 | CV2794331 | single nucleotide variant | NM_017612.5(ZCCHC8):c.658G>C (p.Val220Leu) | Dyskeratosis congenita [RCV003991546] | uncertain significance | 12 | 122483292 | 122483292 | Human | 1 | name |
| 405689854 | CV2794332 | single nucleotide variant | NM_017612.5(ZCCHC8):c.508G>C (p.Gly170Arg) | Inherited aplastic anemia [RCV003991547] | likely pathogenic | 12 | 122483557 | 122483557 | Human | 1 | name |
| 405689860 | CV2794333 | single nucleotide variant | NM_017612.5(ZCCHC8):c.551G>A (p.Gly184Glu) | Inherited acute myeloid leukemia [RCV003991548] | likely pathogenic | 12 | 122483514 | 122483514 | Human | 1 | name |
| 401932565 | CV2817039 | single nucleotide variant | NM_017612.5(ZCCHC8):c.752T>C (p.Ile251Thr) | not provided [RCV003392165] | uncertain significance | 12 | 122482068 | 122482068 | Human | | name |
| 405191161 | CV2871367 | single nucleotide variant | NM_017612.5(ZCCHC8):c.879G>T (p.Glu293Asp) | not provided [RCV003550387] | uncertain significance | 12 | 122481661 | 122481661 | Human | | name |
| 405151138 | CV2888495 | single nucleotide variant | NM_017612.5(ZCCHC8):c.643G>C (p.Gly215Arg) | not provided [RCV003561742] | uncertain significance | 12 | 122483307 | 122483307 | Human | | name |
| 402487114 | CV2928486 | single nucleotide variant | NM_017612.5(ZCCHC8):c.848T>G (p.Phe283Cys) | not provided [RCV003572640] | uncertain significance | 12 | 122481972 | 122481972 | Human | | name |
| 402521158 | CV2940130 | single nucleotide variant | NM_017612.5(ZCCHC8):c.935G>A (p.Arg312Gln) | not provided [RCV003663316] | uncertain significance | 12 | 122481605 | 122481605 | Human | | name |
| 405095921 | CV2944081 | single nucleotide variant | NM_017612.5(ZCCHC8):c.482A>G (p.Asn161Ser) | not provided [RCV003665645] | uncertain significance | 12 | 122489405 | 122489405 | Human | | name |
| 405158691 | CV2961143 | single nucleotide variant | NM_017612.5(ZCCHC8):c.588A>T (p.Glu196Asp) | not provided [RCV003670573] | uncertain significance | 12 | 122483477 | 122483477 | Human | | name |
| 405227529 | CV2963587 | single nucleotide variant | NM_017612.5(ZCCHC8):c.646C>A (p.Gln216Lys) | not provided [RCV003681679] | uncertain significance | 12 | 122483304 | 122483304 | Human | | name |
| 405231415 | CV2964650 | single nucleotide variant | NM_017612.5(ZCCHC8):c.606G>C (p.Lys202Asn) | not provided [RCV003682319] | uncertain significance | 12 | 122483344 | 122483344 | Human | | name |
| 405215528 | CV2981543 | single nucleotide variant | NM_017612.5(ZCCHC8):c.931T>C (p.Tyr311His) | not provided [RCV003709194] | uncertain significance | 12 | 122481609 | 122481609 | Human | | name |
| 405009895 | CV2987035 | single nucleotide variant | NM_017612.5(ZCCHC8):c.344T>C (p.Phe115Ser) | not provided [RCV003693891] | uncertain significance | 12 | 122490541 | 122490541 | Human | | name |
| 405123981 | CV3021100 | single nucleotide variant | NM_017612.5(ZCCHC8):c.538C>G (p.Leu180Val) | not provided [RCV003701055] | uncertain significance | 12 | 122483527 | 122483527 | Human | | name |
| 405007223 | CV3120870 | single nucleotide variant | NM_017612.5(ZCCHC8):c.475A>G (p.Ile159Val) | not provided [RCV003828473] | uncertain significance | 12 | 122489412 | 122489412 | Human | | name |
| 405041239 | CV3141061 | single nucleotide variant | NM_017612.5(ZCCHC8):c.484A>C (p.Asn162His) | not provided [RCV003831354] | uncertain significance | 12 | 122489403 | 122489403 | Human | | name |
| 405699448 | CV3227170 | single nucleotide variant | NM_017612.5(ZCCHC8):c.574C>G (p.Pro192Ala) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV003993521] | uncertain significance | 12 | 122483491 | 122483491 | Human | 1 | name |
| 597753550 | CV3630923 | single nucleotide variant | NM_017612.5(ZCCHC8):c.707A>G (p.Glu236Gly) | not specified [RCV004893185] | uncertain significance | 12 | 122482660 | 122482660 | Human | | name |
| 597847576 | CV3746372 | single nucleotide variant | NM_017612.5(ZCCHC8):c.818G>A (p.Arg273Gln) | not provided [RCV005060190] | uncertain significance | 12 | 122482002 | 122482002 | Human | | name |
| 597857739 | CV3748193 | single nucleotide variant | NM_017612.5(ZCCHC8):c.692A>G (p.Asn231Ser) | not provided [RCV005067015] | uncertain significance | 12 | 122482675 | 122482675 | Human | | name |
| 597934281 | CV3750428 | single nucleotide variant | NM_017612.5(ZCCHC8):c.644G>T (p.Gly215Val) | not provided [RCV005076353] | uncertain significance | 12 | 122483306 | 122483306 | Human | | name |
| 597951711 | CV3756509 | single nucleotide variant | NM_017612.5(ZCCHC8):c.848T>C (p.Phe283Ser) | not provided [RCV005079566] | uncertain significance | 12 | 122481972 | 122481972 | Human | | name |
| 597944305 | CV3776560 | single nucleotide variant | NM_017612.5(ZCCHC8):c.422A>G (p.Gln141Arg) | not provided [RCV005119416] | uncertain significance | 12 | 122490463 | 122490463 | Human | | name |
| 597909320 | CV3781992 | single nucleotide variant | NM_017612.5(ZCCHC8):c.488A>G (p.Lys163Arg) | not provided [RCV005128484] | uncertain significance | 12 | 122489399 | 122489399 | Human | | name |
| 597950582 | CV3798113 | single nucleotide variant | NM_017612.5(ZCCHC8):c.909C>G (p.Asp303Glu) | not provided [RCV005135893] | uncertain significance | 12 | 122481631 | 122481631 | Human | | name |
| 597913612 | CV3817442 | single nucleotide variant | NM_017612.5(ZCCHC8):c.385A>G (p.Asn129Asp) | not provided [RCV005154644] | uncertain significance | 12 | 122490500 | 122490500 | Human | | name |
| 597843109 | CV3827259 | single nucleotide variant | NM_017612.5(ZCCHC8):c.833A>T (p.Glu278Val) | not provided [RCV005172530] | uncertain significance | 12 | 122481987 | 122481987 | Human | | name |
| 597974259 | CV3831180 | single nucleotide variant | NM_017612.5(ZCCHC8):c.573C>G (p.Asn191Lys) | not provided [RCV005168318] | uncertain significance | 12 | 122483492 | 122483492 | Human | | name |
| 597870040 | CV3839332 | single nucleotide variant | NM_017612.5(ZCCHC8):c.605A>G (p.Lys202Arg) | not provided [RCV005176443] | uncertain significance | 12 | 122483460 | 122483460 | Human | | name |
| 597901862 | CV3845501 | single nucleotide variant | NM_017612.5(ZCCHC8):c.611A>G (p.His204Arg) | not provided [RCV005181311] | uncertain significance | 12 | 122483339 | 122483339 | Human | | name |
| 597871568 | CV3849342 | single nucleotide variant | NM_017612.5(ZCCHC8):c.838G>A (p.Glu280Lys) | not provided [RCV005197523] | uncertain significance | 12 | 122481982 | 122481982 | Human | | name |
| 597899203 | CV3854645 | deletion | NM_017612.5(ZCCHC8):c.1139del (p.Asp380fs) | not provided [RCV005201753] | uncertain significance | 12 | 122480191 | 122480191 | Human | | name |
| 597889823 | CV3856139 | single nucleotide variant | NM_017612.5(ZCCHC8):c.308C>T (p.Ala103Val) | not provided [RCV005200384] | uncertain significance | 12 | 122492724 | 122492724 | Human | | name |
| 15040339 | CV682793 | single nucleotide variant | NM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV000856725]|not provided [RCV004546569] | pathogenic | 12 | 122483508 | 122483508 | Human | 1 | name |
| 126768287 | CV1030684 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1378G>A (p.Glu460Lys) | not provided [RCV001343268] | uncertain significance | 12 | 122474243 | 122474243 | Human | | name |
| 126915860 | CV1047696 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1730C>T (p.Thr577Met) | not provided [RCV001360232]|not specified [RCV004036757] | likely benign|uncertain significance | 12 | 122473891 | 122473891 | Human | | name |
| 127260350 | CV1100889 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1777G>T (p.Ala593Ser) | ZCCHC8-related disorder [RCV003946122]|not provided [RCV001427808] | likely benign | 12 | 122473844 | 122473844 | Human | 1 | name , trait , alternate_id |
| 151887290 | CV1341247 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1505A>C (p.Gln502Pro) | not provided [RCV001887732]|not specified [RCV004038987] | likely benign|uncertain significance | 12 | 122474116 | 122474116 | Human | | name |
| 151863405 | CV1353654 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1226C>T (p.Ala409Val) | not provided [RCV001924303] | uncertain significance | 12 | 122478207 | 122478207 | Human | | name |
| 151877532 | CV1361441 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1430G>A (p.Arg477Gln) | not provided [RCV001926012] | uncertain significance | 12 | 122474191 | 122474191 | Human | | name |
| 151813821 | CV1366435 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1079A>T (p.Asp360Val) | not provided [RCV001933467] | uncertain significance | 12 | 122480251 | 122480251 | Human | | name |
| 151886253 | CV1367345 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1396C>T (p.Pro466Ser) | not provided [RCV002000647] | uncertain significance | 12 | 122474225 | 122474225 | Human | | name |
| 151832647 | CV1370406 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1750C>T (p.Pro584Ser) | not provided [RCV001993864] | uncertain significance | 12 | 122473871 | 122473871 | Human | | name |
| 151739113 | CV1379311 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1862G>C (p.Gly621Ala) | not provided [RCV001911752] | uncertain significance | 12 | 122473759 | 122473759 | Human | | name |
| 151813152 | CV1382609 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1429C>T (p.Arg477Trp) | not provided [RCV002049050] | uncertain significance | 12 | 122474192 | 122474192 | Human | | name |
| 151846675 | CV1386657 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1736A>T (p.Asp579Val) | not provided [RCV001882034] | uncertain significance | 12 | 122473885 | 122473885 | Human | | name |
| 151728698 | CV1388691 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1447G>A (p.Val483Ile) | not provided [RCV001966889] | uncertain significance | 12 | 122474174 | 122474174 | Human | | name |
| 151791252 | CV1393226 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1604A>G (p.Glu535Gly) | not provided [RCV001931440] | uncertain significance | 12 | 122474017 | 122474017 | Human | | name |
| 151746367 | CV1402030 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1683T>G (p.Asn561Lys) | not provided [RCV002042771] | uncertain significance | 12 | 122473938 | 122473938 | Human | | name |
| 151764915 | CV1403213 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1835C>A (p.Ala612Glu) | not provided [RCV001914401] | uncertain significance | 12 | 122473786 | 122473786 | Human | | name |
| 151765024 | CV1403231 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1660G>A (p.Val554Ile) | not provided [RCV001914413] | uncertain significance | 12 | 122473961 | 122473961 | Human | | name |
| 151835276 | CV1420188 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1174G>T (p.Ala392Ser) | not provided [RCV001977071] | uncertain significance | 12 | 122478259 | 122478259 | Human | | name |
| 151731105 | CV1421271 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1325C>T (p.Ala442Val) | not provided [RCV001892259] | uncertain significance | 12 | 122477861 | 122477861 | Human | | name |
| 151774715 | CV1427127 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1098C>G (p.Asn366Lys) | not provided [RCV001864404] | uncertain significance | 12 | 122480232 | 122480232 | Human | | name |
| 151744419 | CV1432854 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1370A>T (p.Gln457Leu) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV003492714]|not provided [RCV001968480] | uncertain significance | 12 | 122474251 | 122474251 | Human | 1 | name |
| 151758924 | CV1443726 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1961C>T (p.Thr654Ile) | not provided [RCV001873010] | uncertain significance | 12 | 122473660 | 122473660 | Human | | name |
| 151819232 | CV1452773 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1910A>T (p.Asn637Ile) | not provided [RCV002029722] | uncertain significance | 12 | 122473711 | 122473711 | Human | | name |
| 151774706 | CV1455683 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1933C>T (p.Pro645Ser) | not provided [RCV002045578] | uncertain significance | 12 | 122473688 | 122473688 | Human | | name |
| 151813530 | CV1460270 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1652G>A (p.Gly551Asp) | ZCCHC8-related disorder [RCV003956415]|not provided [RCV001878508] | likely benign|uncertain significance | 12 | 122473969 | 122473969 | Human | 1 | name , trait , alternate_id |
| 151779091 | CV1463435 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1495G>A (p.Asp499Asn) | not provided [RCV001875187] | uncertain significance | 12 | 122474126 | 122474126 | Human | | name |
| 151736258 | CV1465969 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1697C>T (p.Pro566Leu) | not provided [RCV002041748]|not specified [RCV004038768] | uncertain significance | 12 | 122473924 | 122473924 | Human | | name |
| 151714358 | CV1469722 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1577G>A (p.Arg526Gln) | not provided [RCV001890020]|not specified [RCV004041114] | uncertain significance | 12 | 122474044 | 122474044 | Human | | name |
| 151716418 | CV1472794 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1948C>A (p.Pro650Thr) | not provided [RCV002039406] | uncertain significance | 12 | 122473673 | 122473673 | Human | | name |
| 151752450 | CV1473909 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1666T>A (p.Ser556Thr) | not provided [RCV001872396]|not specified [RCV004877713] | uncertain significance | 12 | 122473955 | 122473955 | Human | | name |
| 151843170 | CV1475563 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1540G>T (p.Ala514Ser) | not provided [RCV001995006] | uncertain significance | 12 | 122474081 | 122474081 | Human | | name |
| 151819774 | CV1490591 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1046G>A (p.Gly349Glu) | not provided [RCV001992654] | uncertain significance | 12 | 122480284 | 122480284 | Human | | name |
| 151740516 | CV1492448 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1847C>T (p.Pro616Leu) | ZCCHC8-related disorder [RCV003892890]|not provided [RCV002042184] | likely benign|uncertain significance | 12 | 122473774 | 122473774 | Human | 1 | name , trait , alternate_id |
| 151790968 | CV1509222 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1703C>T (p.Pro568Leu) | not provided [RCV001876510] | uncertain significance | 12 | 122473918 | 122473918 | Human | | name |
| 151732069 | CV1509704 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2000C>T (p.Ala667Val) | not provided [RCV001892356]|not specified [RCV004041277] | uncertain significance | 12 | 122473621 | 122473621 | Human | | name |
| 151748951 | CV1511941 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2093A>T (p.Asn698Ile) | not provided [RCV001986076] | uncertain significance | 12 | 122473528 | 122473528 | Human | | name |
| 152148971 | CV1566427 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1529T>C (p.Val510Ala) | not provided [RCV002139229] | likely benign | 12 | 122474092 | 122474092 | Human | | name |
| 152104685 | CV1622698 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1910A>G (p.Asn637Ser) | ZCCHC8-related disorder [RCV003968807]|not provided [RCV002214646] | likely benign | 12 | 122473711 | 122473711 | Human | 1 | name , trait , alternate_id |
| 155713810 | CV1775959 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1204T>C (p.Tyr402His) | not provided [RCV002296303] | uncertain significance | 12 | 122478229 | 122478229 | Human | | name |
| 155714765 | CV1776028 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1517C>T (p.Ala506Val) | not provided [RCV002296357] | uncertain significance | 12 | 122474104 | 122474104 | Human | | name |
| 156408461 | CV1870059 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1813T>G (p.Ser605Ala) | not provided [RCV003071276] | uncertain significance | 12 | 122473808 | 122473808 | Human | | name |
| 156225791 | CV1896360 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1964A>G (p.Lys655Arg) | not provided [RCV003085171] | uncertain significance | 12 | 122473657 | 122473657 | Human | | name |
| 156254089 | CV1967338 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1540G>A (p.Ala514Thr) | not provided [RCV002597566]|not specified [RCV004686730] | uncertain significance | 12 | 122474081 | 122474081 | Human | | name |
| 156124278 | CV1969328 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1860A>T (p.Glu620Asp) | not provided [RCV002593246] | uncertain significance | 12 | 122473761 | 122473761 | Human | | name |
| 156338247 | CV1973920 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1618G>A (p.Asp540Asn) | not provided [RCV002601144]|not specified [RCV004877741] | uncertain significance | 12 | 122474003 | 122474003 | Human | | name |
| 156389042 | CV1979901 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1615A>G (p.Ser539Gly) | not provided [RCV002634826] | uncertain significance | 12 | 122474006 | 122474006 | Human | | name |
| 156399124 | CV1982098 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1151T>A (p.Ile384Asn) | not provided [RCV002635800] | uncertain significance | 12 | 122478282 | 122478282 | Human | | name |
| 156116227 | CV1995553 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1475C>T (p.Thr492Ile) | not provided [RCV002640133] | uncertain significance | 12 | 122474146 | 122474146 | Human | | name |
| 156027889 | CV2004721 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1373G>A (p.Ser458Asn) | not provided [RCV002658533] | uncertain significance | 12 | 122474248 | 122474248 | Human | | name |
| 156103918 | CV2009967 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1429C>G (p.Arg477Gly) | not provided [RCV002706775]|not specified [RCV004067681] | uncertain significance | 12 | 122474192 | 122474192 | Human | | name |
| 156095429 | CV2010566 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1235T>G (p.Val412Gly) | not provided [RCV002695098] | uncertain significance | 12 | 122477951 | 122477951 | Human | | name |
| 156308417 | CV2021596 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1965A>C (p.Lys655Asn) | not provided [RCV002716393] | uncertain significance | 12 | 122473656 | 122473656 | Human | | name |
| 156025904 | CV2043486 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1313C>T (p.Ala438Val) | not provided [RCV002780894] | uncertain significance | 12 | 122477873 | 122477873 | Human | | name |
| 156246990 | CV2044771 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1339G>A (p.Asp447Asn) | not provided [RCV002805876]|not specified [RCV004064821] | uncertain significance | 12 | 122477847 | 122477847 | Human | | name |
| 156126561 | CV2046836 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1379A>C (p.Glu460Ala) | not provided [RCV002800444] | uncertain significance | 12 | 122474242 | 122474242 | Human | | name |
| 156171364 | CV2053382 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1609G>C (p.Val537Leu) | not provided [RCV002801961] | uncertain significance | 12 | 122474012 | 122474012 | Human | | name |
| 156151825 | CV2131807 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1718C>G (p.Ser573Cys) | not provided [RCV002982680] | uncertain significance | 12 | 122473903 | 122473903 | Human | | name |
| 156019179 | CV2141104 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2002A>G (p.Thr668Ala) | not provided [RCV002976064]|not specified [RCV004065041] | likely benign|uncertain significance | 12 | 122473619 | 122473619 | Human | | name |
| 156294394 | CV2152894 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1844C>T (p.Ala615Val) | not provided [RCV003010099] | uncertain significance | 12 | 122473777 | 122473777 | Human | | name |
| 155973122 | CV2154578 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1223A>T (p.Gln408Leu) | not provided [RCV003033526] | uncertain significance | 12 | 122478210 | 122478210 | Human | | name |
| 156132371 | CV2169232 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1441C>T (p.Pro481Ser) | not provided [RCV003022226] | uncertain significance | 12 | 122474180 | 122474180 | Human | | name |
| 156088180 | CV2170728 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1129G>A (p.Gly377Arg) | not provided [RCV003038122] | uncertain significance | 12 | 122480201 | 122480201 | Human | | name |
| 156209871 | CV2175608 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1273C>T (p.Pro425Ser) | not provided [RCV003024764] | uncertain significance | 12 | 122477913 | 122477913 | Human | | name |
| 156366959 | CV2177716 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2041T>C (p.Ser681Pro) | not provided [RCV003049412] | uncertain significance | 12 | 122473580 | 122473580 | Human | | name |
| 156341330 | CV2225812 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1316G>A (p.Gly439Glu) | not specified [RCV004103218] | uncertain significance | 12 | 122477870 | 122477870 | Human | | name |
| 156043612 | CV2237499 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1462C>T (p.Leu488Phe) | not specified [RCV004106453] | uncertain significance | 12 | 122474159 | 122474159 | Human | | name |
| 156044564 | CV2305938 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1315G>C (p.Gly439Arg) | not specified [RCV004167719] | uncertain significance | 12 | 122477871 | 122477871 | Human | | name |
| 156157277 | CV2378695 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1624G>A (p.Asp542Asn) | not provided [RCV003778605]|not specified [RCV004231161] | uncertain significance | 12 | 122473997 | 122473997 | Human | | name |
| 329357782 | CV2453785 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2110A>C (p.Lys704Gln) | not specified [RCV004269406] | uncertain significance | 12 | 122473511 | 122473511 | Human | | name |
| 11525879 | CV247072 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1349T>C (p.Met450Thr) | not provided [RCV003736673]|not specified [RCV000239009] | uncertain significance | 12 | 122474272 | 122474272 | Human | | name |
| 401864914 | CV2757282 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1770A>C (p.Lys590Asn) | ZCCHC8-related disorder [RCV003901018]|not provided [RCV003561316]|not specified [RCV004338872] | uncertain significance | 12 | 122473851 | 122473851 | Human | 1 | name , trait , alternate_id |
| 401865133 | CV2768679 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2090G>A (p.Arg697Gln) | not provided [RCV005061327]|not specified [RCV004344526] | uncertain significance | 12 | 122473531 | 122473531 | Human | | name |
| 401891811 | CV2780811 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1308C>G (p.Asn436Lys) | not specified [RCV004352129] | uncertain significance | 12 | 122477878 | 122477878 | Human | | name |
| 401912069 | CV2796047 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1576C>T (p.Arg526Trp) | ZCCHC8-related disorder [RCV003399743]|not provided [RCV005104308]|not specified [RCV004887721] | uncertain significance | 12 | 122474045 | 122474045 | Human | 1 | name , trait , alternate_id |
| 401920670 | CV2796507 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1994A>G (p.Lys665Arg) | ZCCHC8-related disorder [RCV003402543] | uncertain significance | 12 | 122473627 | 122473627 | Human | | name , trait , alternate_id |
| 405194742 | CV2868572 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1492A>C (p.Ser498Arg) | not provided [RCV003550713] | uncertain significance | 12 | 122474129 | 122474129 | Human | | name |
| 402502673 | CV2869398 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1226C>A (p.Ala409Glu) | not provided [RCV003546069]|not specified [RCV004887730] | uncertain significance | 12 | 122478207 | 122478207 | Human | | name |
| 405237317 | CV2881130 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2012C>T (p.Thr671Met) | not provided [RCV003556653] | uncertain significance | 12 | 122473609 | 122473609 | Human | | name |
| 402472856 | CV2908714 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1790C>G (p.Ser597Cys) | not provided [RCV003570874] | uncertain significance | 12 | 122473831 | 122473831 | Human | | name |
| 402475324 | CV2919778 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1096A>G (p.Asn366Asp) | not provided [RCV003571205] | uncertain significance | 12 | 122480234 | 122480234 | Human | | name |
| 405013332 | CV2933950 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1445C>G (p.Pro482Arg) | not provided [RCV003576863] | uncertain significance | 12 | 122474176 | 122474176 | Human | | name |
| 402483950 | CV2944827 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1991G>A (p.Ser664Asn) | not provided [RCV003659901] | uncertain significance | 12 | 122473630 | 122473630 | Human | | name |
| 402485435 | CV2944901 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1466C>G (p.Pro489Arg) | not provided [RCV003659951] | uncertain significance | 12 | 122474155 | 122474155 | Human | | name |
| 405153916 | CV2949360 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1816C>T (p.Leu606Phe) | not provided [RCV003674201] | uncertain significance | 12 | 122473805 | 122473805 | Human | | name |
| 405182817 | CV2952783 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1776A>C (p.Glu592Asp) | not provided [RCV003676449] | uncertain significance | 12 | 122473845 | 122473845 | Human | | name |
| 405232210 | CV2974728 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1483C>G (p.Leu495Val) | not provided [RCV003682449] | uncertain significance | 12 | 122474138 | 122474138 | Human | | name |
| 405013561 | CV2994154 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1878T>A (p.Asn626Lys) | not provided [RCV003694193]|not specified [RCV005311032] | uncertain significance | 12 | 122473743 | 122473743 | Human | | name |
| 405238593 | CV2996778 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1141G>A (p.Glu381Lys) | not provided [RCV003718696] | uncertain significance | 12 | 122478292 | 122478292 | Human | | name |
| 405118370 | CV2997435 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1381A>G (p.Ser461Gly) | not provided [RCV003723607] | uncertain significance | 12 | 122474240 | 122474240 | Human | | name |
| 402496690 | CV3005923 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1258T>G (p.Ser420Ala) | not provided [RCV003688081] | uncertain significance | 12 | 122477928 | 122477928 | Human | | name |
| 405133771 | CV3018370 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1376G>A (p.Ser459Asn) | not provided [RCV003701925] | uncertain significance | 12 | 122474245 | 122474245 | Human | | name |
| 405176820 | CV3019981 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1006T>C (p.Tyr336His) | not provided [RCV003705166] | uncertain significance | 12 | 122481534 | 122481534 | Human | | name |
| 405223756 | CV3035827 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1882A>G (p.Ser628Gly) | not provided [RCV003710354] | uncertain significance | 12 | 122473739 | 122473739 | Human | | name |
| 405207871 | CV3036932 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1651G>A (p.Gly551Ser) | not provided [RCV003708155] | uncertain significance | 12 | 122473970 | 122473970 | Human | | name |
| 405227917 | CV3065679 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1539C>G (p.Asp513Glu) | not provided [RCV003734380] | uncertain significance | 12 | 122474082 | 122474082 | Human | | name |
| 405213922 | CV3078351 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1327G>A (p.Asp443Asn) | not provided [RCV003732384] | uncertain significance | 12 | 122477859 | 122477859 | Human | | name |
| 405187891 | CV3121249 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1609G>A (p.Val537Ile) | not provided [RCV003820705] | uncertain significance | 12 | 122474012 | 122474012 | Human | | name |
| 405144656 | CV3126174 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1144T>C (p.Trp382Arg) | not provided [RCV003817090] | uncertain significance | 12 | 122478289 | 122478289 | Human | | name |
| 405217543 | CV3139528 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1334A>G (p.Glu445Gly) | not provided [RCV003824219] | uncertain significance | 12 | 122477852 | 122477852 | Human | | name |
| 405214645 | CV3143154 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1603G>A (p.Glu535Lys) | not provided [RCV003846317] | uncertain significance | 12 | 122474018 | 122474018 | Human | | name |
| 405168506 | CV3149834 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1379A>G (p.Glu460Gly) | not provided [RCV003841305]|not specified [RCV004877835] | uncertain significance | 12 | 122474242 | 122474242 | Human | | name |
| 405205829 | CV3165658 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1867C>T (p.Leu623Phe) | not provided [RCV003861324] | uncertain significance | 12 | 122473754 | 122473754 | Human | | name |
| 404978926 | CV3176012 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1361A>G (p.His454Arg) | not provided [RCV003880112] | uncertain significance | 12 | 122474260 | 122474260 | Human | | name |
| 405250623 | CV3180793 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1426C>T (p.Pro476Ser) | not provided [RCV003870071] | uncertain significance | 12 | 122474195 | 122474195 | Human | | name |
| 405812745 | CV3353478 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1480C>T (p.Pro494Ser) | not specified [RCV004483486] | uncertain significance | 12 | 122474141 | 122474141 | Human | | name |
| 405812749 | CV3353480 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1837G>C (p.Glu613Gln) | not specified [RCV004483488] | uncertain significance | 12 | 122473784 | 122473784 | Human | | name |
| 405812751 | CV3353481 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1880G>T (p.Gly627Val) | not provided [RCV005104783]|not specified [RCV004483489] | uncertain significance | 12 | 122473741 | 122473741 | Human | | name |
| 405812752 | CV3353482 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1894A>C (p.Asn632His) | not specified [RCV004483490] | uncertain significance | 12 | 122473727 | 122473727 | Human | | name |
| 407457071 | CV3492005 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1720G>A (p.Glu574Lys) | not specified [RCV004686190] | uncertain significance | 12 | 122473901 | 122473901 | Human | | name |
| 407457073 | CV3492006 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1681A>G (p.Asn561Asp) | not specified [RCV004686191] | uncertain significance | 12 | 122473940 | 122473940 | Human | | name |
| 596932678 | CV3539305 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1829A>T (p.Glu610Val) | not provided [RCV004793928] | uncertain significance | 12 | 122473792 | 122473792 | Human | | name |
| 597793088 | CV3630924 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1042G>A (p.Val348Ile) | not provided [RCV005110009]|not specified [RCV004877202] | likely benign|uncertain significance | 12 | 122480288 | 122480288 | Human | | name |
| 597899146 | CV3740905 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1627G>C (p.Val543Leu) | not provided [RCV005072068] | uncertain significance | 12 | 122473994 | 122473994 | Human | | name |
| 597929692 | CV3742109 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1843G>C (p.Ala615Pro) | not provided [RCV005075741] | uncertain significance | 12 | 122473778 | 122473778 | Human | | name |
| 597857145 | CV3748133 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1534G>C (p.Glu512Gln) | not provided [RCV005066955] | uncertain significance | 12 | 122474087 | 122474087 | Human | | name |
| 597893082 | CV3749411 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1031G>A (p.Gly344Glu) | not provided [RCV005071195] | uncertain significance | 12 | 122480299 | 122480299 | Human | | name |
| 597965169 | CV3751105 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1699G>T (p.Val567Phe) | not provided [RCV005082667] | uncertain significance | 12 | 122473922 | 122473922 | Human | | name |
| 597966674 | CV3751638 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1900G>A (p.Asp634Asn) | not provided [RCV005083008] | uncertain significance | 12 | 122473721 | 122473721 | Human | | name |
| 597938644 | CV3760147 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1114A>G (p.Ile372Val) | not provided [RCV005077071] | uncertain significance | 12 | 122480216 | 122480216 | Human | | name |
| 597944971 | CV3779518 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1955C>G (p.Thr652Arg) | not provided [RCV005134482] | uncertain significance | 12 | 122473666 | 122473666 | Human | | name |
| 597954670 | CV3786736 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1175C>G (p.Ala392Gly) | not provided [RCV005121827] | uncertain significance | 12 | 122478258 | 122478258 | Human | | name |
| 597938970 | CV3788394 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1960A>G (p.Thr654Ala) | not provided [RCV005133069] | uncertain significance | 12 | 122473661 | 122473661 | Human | | name |
| 597956444 | CV3792415 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1625A>C (p.Asp542Ala) | not provided [RCV005137302] | uncertain significance | 12 | 122473996 | 122473996 | Human | | name |
| 597970974 | CV3802358 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1439C>A (p.Pro480His) | not provided [RCV005141956] | uncertain significance | 12 | 122474182 | 122474182 | Human | | name |
| 597955380 | CV3809458 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1936G>A (p.Ala646Thr) | not provided [RCV005162183] | uncertain significance | 12 | 122473685 | 122473685 | Human | | name |
| 597893819 | CV3809995 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1357C>T (p.Pro453Ser) | not provided [RCV005151716] | uncertain significance | 12 | 122474264 | 122474264 | Human | | name |
| 597948900 | CV3818433 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1985A>C (p.Asp662Ala) | not provided [RCV005160694] | uncertain significance | 12 | 122473636 | 122473636 | Human | | name |
| 597973222 | CV3820356 | single nucleotide variant | NM_017612.5(ZCCHC8):c.2008A>G (p.Ile670Val) | not provided [RCV005167873] | uncertain significance | 12 | 122473613 | 122473613 | Human | | name |
| 597936013 | CV3845350 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1806G>C (p.Glu602Asp) | not provided [RCV005186663] | uncertain significance | 12 | 122473815 | 122473815 | Human | | name |
| 15126012 | CV713395 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1987A>G (p.Met663Val) | not provided [RCV000963674] | benign | 12 | 122473634 | 122473634 | Human | | name |
| 15153104 | CV713396 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1642C>T (p.Pro548Ser) | not provided [RCV000968482] | likely benign | 12 | 122473979 | 122473979 | Human | | name |
| 15108415 | CV713397 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1627G>A (p.Val543Ile) | not provided [RCV000960484] | benign | 12 | 122473994 | 122473994 | Human | | name |
| 15140608 | CV713398 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1481C>T (p.Pro494Leu) | not provided [RCV000966166] | likely benign | 12 | 122474140 | 122474140 | Human | | name |
| 15190588 | CV738514 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1550T>C (p.Leu517Pro) | not provided [RCV000909995] | likely benign | 12 | 122474071 | 122474071 | Human | | name |
| 38469545 | CV921216 | single nucleotide variant | NM_017612.5(ZCCHC8):c.1487C>T (p.Thr496Ile) | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV001200884]|not provided [RCV003718387]|not specified [RCV004033491] | uncertain significance | 12 | 122474134 | 122474134 | Human | 1 | name |
| 127243452 | CV1079132 | microsatellite | NM_017612.5(ZCCHC8):c.830AAG[1] (p.Glu278del) | ZCCHC8-related disorder [RCV003953765]|not provided [RCV001416152] | likely benign | 12 | 122481985 | 122481987 | Human | | name , trait , alternate_id |
| 151773569 | CV1424042 | microsatellite | NM_017612.5(ZCCHC8):c.765_771del (p.Arg255fs) | not provided [RCV002045479] | uncertain significance | 12 | 122482049 | 122482055 | Human | | name |
| 597908998 | CV3781719 | duplication | NM_017612.5(ZCCHC8):c.648_658dup (p.Val220fs) | not provided [RCV005128407] | uncertain significance | 12 | 122483291 | 122483292 | Human | | name |
| 156009532 | CV2075445 | microsatellite | NM_017612.5(ZCCHC8):c.1180CAG[1] (p.Gln395del) | not provided [RCV002843797] | uncertain significance | 12 | 122478248 | 122478250 | Human | | name |
| 151855795 | CV1376217 | deletion | NM_017612.5(ZCCHC8):c.1570_1573del (p.Gln524fs) | not provided [RCV002033751] | uncertain significance | 12 | 122474048 | 122474051 | Human | | name |
| 156172710 | CV2053435 | deletion | NM_017612.5(ZCCHC8):c.1059_1060del (p.Gln353_Asn354insTer) | not provided [RCV002801998] | uncertain significance | 12 | 122480270 | 122480271 | Human | | name |