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409 records found for search term Zcchc8
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
127295552CV1156935single nucleotide variantNM_017612.5(ZCCHC8):c.200-4T>Cnot provided [RCV001512242]benign12122498873122498873Humanname
151784722CV1344728single nucleotide variantNM_017612.5(ZCCHC8):c.199+3A>Gnot provided [RCV001989455]uncertain significance12122500639122500639Humanname
151770432CV1481757single nucleotide variantNM_017612.5(ZCCHC8):c.317+4A>Gnot provided [RCV002008791]uncertain significance12122492711122492711Humanname
151888972CV1504573single nucleotide variantNM_017612.5(ZCCHC8):c.671+5G>Anot provided [RCV001963329]uncertain significance12122483274122483274Humanname
152116865CV1569774single nucleotide variantNM_017612.5(ZCCHC8):c.733-4G>Anot provided [RCV002117308]likely benign12122482091122482091Humanname
152074527CV1630210single nucleotide variantNM_017612.5(ZCCHC8):c.424-7G>Tnot provided [RCV002169727]likely benign12122489470122489470Humanname
155952825CV1896385single nucleotide variantNM_017612.5(ZCCHC8):c.423+9A>Cnot provided [RCV003095426]likely benign12122490453122490453Humanname
156009866CV2039025deletionNM_017612.5(ZCCHC8):c.200-4delnot provided [RCV002795041]likely benign12122498873122498873Humanname
156349985CV2125582duplicationNM_017612.5(ZCCHC8):c.317+2dupnot provided [RCV002966226]uncertain significance12122492712122492713Humanname
405216063CV2977970single nucleotide variantNM_017612.5(ZCCHC8):c.875+8T>Cnot provided [RCV003709332]likely benign12122481937122481937Humanname
405217153CV3055642single nucleotide variantNM_017612.5(ZCCHC8):c.242+7G>Anot provided [RCV003732703]likely benign12122498820122498820Humanname
597868369CV3742915single nucleotide variantNM_017612.5(ZCCHC8):c.318-5C>Anot provided [RCV005068338]likely benign12122490572122490572Humanname
597951747CV3756516single nucleotide variantNM_017612.5(ZCCHC8):c.318-4A>Gnot provided [RCV005079573]likely benign12122490571122490571Humanname
597938925CV3788383single nucleotide variantNM_017612.5(ZCCHC8):c.671+7G>Tnot provided [RCV005133058]likely benign12122483272122483272Humanname
597923382CV3808504single nucleotide variantNM_017612.5(ZCCHC8):c.200-8A>Cnot provided [RCV005156018]likely benign12122498877122498877Humanname
597955773CV3809560single nucleotide variantNM_017612.5(ZCCHC8):c.317+7A>Gnot provided [RCV005162285]likely benign12122492708122492708Humanname
597916202CV3814663single nucleotide variantNM_017612.5(ZCCHC8):c.317+2T>Gnot provided [RCV005154978]uncertain significance12122492713122492713Humanname
127285894CV1143196single nucleotide variantNM_017612.5(ZCCHC8):c.733-14G>Anot provided [RCV001493808]likely benign12122482101122482101Humanname
152174062CV1536014single nucleotide variantNM_017612.5(ZCCHC8):c.424-20T>Cnot provided [RCV002144317]likely benign12122489483122489483Humanname
152171187CV1552642single nucleotide variantNM_017612.5(ZCCHC8):c.317+17C>Gnot provided [RCV002143367]likely benign12122492698122492698Humanname
152156485CV1586004single nucleotide variantNM_017612.5(ZCCHC8):c.243-11T>Anot provided [RCV002140244]likely benign12122492800122492800Humanname
152170495CV1592456single nucleotide variantNM_017612.5(ZCCHC8):c.1140+7A>Gnot provided [RCV002161793]likely benign12122480183122480183Humanname
152121430CV1662224single nucleotide variantNM_017612.5(ZCCHC8):c.199+18T>Cnot provided [RCV002117899]benign12122500624122500624Humanname
152084642CV1663060single nucleotide variantNM_017612.5(ZCCHC8):c.199+14T>Cnot provided [RCV002171001]likely benign12122500628122500628Humanname
152980866CV1676181single nucleotide variantNM_017612.5(ZCCHC8):c.200-44T>CPulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV002245259]|not provided [RCV004707805]benign12122498913122498913Human1name
156407837CV1957623single nucleotide variantNM_017612.5(ZCCHC8):c.1019-4A>Gnot provided [RCV002586340]uncertain significance12122480315122480315Humanname
156059732CV1978906single nucleotide variantNM_017612.5(ZCCHC8):c.605+12A>Gnot provided [RCV002590935]uncertain significance12122483448122483448Humanname
156115289CV1993869single nucleotide variantNM_017612.5(ZCCHC8):c.671+11G>Anot provided [RCV002662642]likely benign12122483268122483268Humanname
156405907CV2004517single nucleotide variantNM_017612.5(ZCCHC8):c.502-15A>Gnot provided [RCV002658427]likely benign12122483578122483578Humanname
156121802CV2015978single nucleotide variantNM_017612.5(ZCCHC8):c.732+13C>Anot provided [RCV002696065]likely benign12122482622122482622Humanname
156343039CV2051659single nucleotide variantNM_017612.5(ZCCHC8):c.672-16T>Cnot provided [RCV002811304]likely benign12122482711122482711Humanname
402520980CV2867363single nucleotide variantNM_017612.5(ZCCHC8):c.1140+9A>Gnot provided [RCV003547755]likely benign12122480181122480181Humanname
402505063CV2927645single nucleotide variantNM_017612.5(ZCCHC8):c.242+20A>Cnot provided [RCV003574374]likely benign12122498807122498807Humanname
402487205CV2941399single nucleotide variantNM_017612.5(ZCCHC8):c.875+20A>Gnot provided [RCV003660194]likely benign12122481925122481925Humanname
402494529CV2978472single nucleotide variantNM_017612.5(ZCCHC8):c.605+10A>Gnot provided [RCV003714112]likely benign12122483450122483450Humanname
402502473CV3032481single nucleotide variantNM_017612.5(ZCCHC8):c.243-11T>Gnot provided [RCV003714885]uncertain significance12122492800122492800Humanname
405253772CV3044982single nucleotide variantNM_017612.5(ZCCHC8):c.1228-3T>Cnot provided [RCV003722687]uncertain significance12122477961122477961Humanname
405054191CV3151289deletionNM_017612.5(ZCCHC8):c.199+11delnot provided [RCV003849698]likely benign12122500631122500631Humanname
405234523CV3158073single nucleotide variantNM_017612.5(ZCCHC8):c.502-16G>Tnot provided [RCV003865829]likely benign12122483579122483579Humanname
405221720CV3158165single nucleotide variantNM_017612.5(ZCCHC8):c.876-12A>Gnot provided [RCV003863660]likely benign12122481676122481676Humanname
404981968CV3179648single nucleotide variantNM_017612.5(ZCCHC8):c.199+10C>Gnot provided [RCV003880629]likely benign12122500632122500632Humanname
597889995CV3739473single nucleotide variantNM_017612.5(ZCCHC8):c.501+12C>Tnot provided [RCV005071020]likely benign12122489374122489374Humanname
597930506CV3745853single nucleotide variantNM_017612.5(ZCCHC8):c.501+18A>Gnot provided [RCV005075838]likely benign12122489368122489368Humanname
597856436CV3821857duplicationNM_017612.5(ZCCHC8):c.502-17dupnot provided [RCV005174335]benign12122483579122483580Humanname
597964739CV3830478single nucleotide variantNM_017612.5(ZCCHC8):c.242+16A>Gnot provided [RCV005164618]likely benign12122498811122498811Humanname
15124319CV744747single nucleotide variantNM_017612.5(ZCCHC8):c.732+10T>Cnot provided [RCV000896567]benign12122482625122482625Humanname
15154206CV779601single nucleotide variantNM_017612.5(ZCCHC8):c.1345+5G>APulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV002488056]|not provided [RCV000968693]benign|likely benign12122477836122477836Human1name
127238937CV1079131single nucleotide variantNM_017612.5(ZCCHC8):c.1141-14C>Tnot provided [RCV001415194]likely benign12122478306122478306Humanname
152086728CV1531803single nucleotide variantNM_017612.5(ZCCHC8):c.1228-13G>Anot provided [RCV002077083]likely benign12122477971122477971Humanname
152096195CV1599662single nucleotide variantNM_017612.5(ZCCHC8):c.1140+20T>Anot provided [RCV002151234]likely benign12122480170122480170Humanname
152157324CV1615901single nucleotide variantNM_017612.5(ZCCHC8):c.1345+10A>Gnot provided [RCV002159010]likely benign12122477831122477831Humanname
152980864CV1676180single nucleotide variantNM_017612.5(ZCCHC8):c.1140+29A>GPulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV002245258]|not provided [RCV004707804]benign12122480161122480161Human1name
156414885CV1955156single nucleotide variantNM_017612.5(ZCCHC8):c.1228-13G>Cnot provided [RCV002588860]likely benign12122477971122477971Humanname
156410547CV1958424single nucleotide variantNM_017612.5(ZCCHC8):c.1228-18G>Anot provided [RCV002587188]likely benign12122477976122477976Humanname
156128490CV1966100single nucleotide variantNM_017612.5(ZCCHC8):c.1019-16T>Anot provided [RCV002593404]likely benign12122480327122480327Humanname
156354871CV2129811single nucleotide variantNM_017612.5(ZCCHC8):c.1019-10T>Cnot provided [RCV002966579]likely benign12122480321122480321Humanname
405164963CV2905616single nucleotide variantNM_017612.5(ZCCHC8):c.1018+16T>Cnot provided [RCV003562594]likely benign12122481506122481506Humanname
405151919CV2949167single nucleotide variantNM_017612.5(ZCCHC8):c.1018+13A>Cnot provided [RCV003674072]likely benign12122481509122481509Humanname
597916173CV3779323single nucleotide variantNM_017612.5(ZCCHC8):c.1228-18G>Tnot provided [RCV005129464]likely benign12122477976122477976Humanname
597891083CV3784854single nucleotide variantNM_017612.5(ZCCHC8):c.1018+19G>Cnot provided [RCV005125633]likely benign12122481503122481503Humanname
8653608CV130183single nucleotide variantNM_017612.4(ZCCHC8):c.243-2145A>GLung cancer [RCV000110670]uncertain significance12122494934122494934Humanname
152107331CV1579360single nucleotide variantNM_017612.5(ZCCHC8):c.75G>A (p.Lys25=)not provided [RCV002173886]likely benign12122500766122500766Humanname
156228038CV2081200duplicationNM_017612.5(ZCCHC8):c.243-15_243-14dupnot provided [RCV002853464]likely benign12122492802122492803Humanname
405237881CV2969912single nucleotide variantNM_017612.5(ZCCHC8):c.84C>T (p.His28=)not provided [RCV003683330]likely benign12122500757122500757Humanname
597954466CV3812642single nucleotide variantNM_017612.5(ZCCHC8):c.78C>G (p.Pro26=)not provided [RCV005161916]likely benign12122500763122500763Humanname
152067291CV1534629single nucleotide variantNM_017612.5(ZCCHC8):c.258C>T (p.Asn86=)not provided [RCV002110959]likely benign12122492774122492774Humanname
152145849CV1543336single nucleotide variantNM_017612.5(ZCCHC8):c.255G>A (p.Val85=)ZCCHC8-related disorder [RCV003933652]|not provided [RCV002178710]likely benign12122492777122492777Human1name , trait , alternate_id
152026411CV1582840single nucleotide variantNM_017612.5(ZCCHC8):c.240G>C (p.Pro80=)not provided [RCV002084789]likely benign12122498829122498829Humanname
152139704CV1638291single nucleotide variantNM_017612.5(ZCCHC8):c.156G>T (p.Arg52=)not provided [RCV002177894]likely benign12122500685122500685Humanname
152103345CV1657009deletionNM_017612.5(ZCCHC8):c.1141-13_1141-9delnot provided [RCV002195831]likely benign12122478301122478305Humanname
152172772CV1658868single nucleotide variantNM_017612.5(ZCCHC8):c.132C>G (p.Val44=)not provided [RCV002162572]likely benign12122500709122500709Humanname
156414176CV1915788single nucleotide variantNM_017612.5(ZCCHC8):c.195C>T (p.Ala65=)not provided [RCV002588455]likely benign12122500646122500646Humanname
156345308CV2051834single nucleotide variantNM_017612.5(ZCCHC8):c.23G>A (p.Gly8Asp)not provided [RCV002811430]uncertain significance12122500818122500818Humanname
156338438CV2178390single nucleotide variantNM_017612.5(ZCCHC8):c.237A>G (p.Arg79=)not provided [RCV003047609]likely benign12122498832122498832Humanname
402501332CV3010382single nucleotide variantNM_017612.5(ZCCHC8):c.192C>T (p.Arg64=)not provided [RCV003688442]likely benign12122500649122500649Humanname
597897339CV3834714single nucleotide variantNM_017612.5(ZCCHC8):c.246A>C (p.Gly82=)not provided [RCV005180625]likely benign12122492786122492786Humanname
15135460CV768923single nucleotide variantNM_017612.5(ZCCHC8):c.240G>A (p.Pro80=)not provided [RCV000942924]likely benign12122498829122498829Humanname
126760227CV1030687single nucleotide variantNM_017612.5(ZCCHC8):c.606G>A (p.Lys202=)not provided [RCV001340352]uncertain significance12122483344122483344Humanname
151746826CV1366094single nucleotide variantNM_017612.5(ZCCHC8):c.95A>C (p.Lys32Thr)not provided [RCV001893875]|not specified [RCV004887683]uncertain significance12122500746122500746Humanname
151717587CV1368448single nucleotide variantNM_017612.5(ZCCHC8):c.35T>A (p.Leu12His)not provided [RCV001965453]uncertain significance12122500806122500806Humanname
151870657CV1371749single nucleotide variantNM_017612.5(ZCCHC8):c.58G>A (p.Glu20Lys)not provided [RCV001960376]|not specified [RCV004043203]uncertain significance12122500783122500783Humanname
151788416CV1376938single nucleotide variantNM_017612.5(ZCCHC8):c.76C>T (p.Pro26Ser)not provided [RCV001897938]uncertain significance12122500765122500765Humanname
152037383CV1524888single nucleotide variantNM_017612.5(ZCCHC8):c.888A>G (p.Gln296=)not provided [RCV002165175]likely benign12122481652122481652Humanname
152050172CV1527729single nucleotide variantNM_017612.5(ZCCHC8):c.879G>A (p.Glu293=)not provided [RCV002089054]likely benign12122481661122481661Humanname
152143110CV1556838single nucleotide variantNM_017612.5(ZCCHC8):c.918T>C (p.Leu306=)not provided [RCV002200834]likely benign12122481622122481622Humanname
152103901CV1574694single nucleotide variantNM_017612.5(ZCCHC8):c.585C>T (p.Ser195=)ZCCHC8-related disorder [RCV003913658]|not provided [RCV002095891]likely benign12122483480122483480Human1name , trait , alternate_id
152119643CV1576053single nucleotide variantNM_017612.5(ZCCHC8):c.378G>A (p.Gln126=)not provided [RCV002197871]likely benign12122490507122490507Humanname
152170702CV1592542single nucleotide variantNM_017612.5(ZCCHC8):c.936G>C (p.Arg312=)not provided [RCV002161859]likely benign12122481604122481604Humanname
152095119CV1597294single nucleotide variantNM_017612.5(ZCCHC8):c.426A>G (p.Pro142=)not provided [RCV002114600]likely benign12122489461122489461Humanname
152048782CV1615040single nucleotide variantNM_017612.5(ZCCHC8):c.789A>G (p.Gly263=)not provided [RCV002088877]likely benign12122482031122482031Humanname
152038912CV1647877single nucleotide variantNM_017612.5(ZCCHC8):c.825C>T (p.His275=)not provided [RCV002087661]likely benign12122481995122481995Humanname
156054480CV1928645single nucleotide variantNM_017612.5(ZCCHC8):c.474C>T (p.Ala158=)not provided [RCV002620721]likely benign12122489413122489413Humanname
156445910CV1952162deletionNM_017612.5(ZCCHC8):c.1141-11_1141-10delnot provided [RCV003116873]likely benign12122478302122478303Humanname
156260763CV1960631single nucleotide variantNM_017612.5(ZCCHC8):c.558G>A (p.Pro186=)not provided [RCV002576837]likely benign12122483507122483507Humanname
156223711CV2005860single nucleotide variantNM_017612.5(ZCCHC8):c.693T>C (p.Asn231=)not provided [RCV002667322]likely benign12122482674122482674Humanname
155971620CV2024847single nucleotide variantNM_017612.5(ZCCHC8):c.547T>C (p.Leu183=)not provided [RCV002754919]likely benign12122483518122483518Humanname
156145217CV2037281single nucleotide variantNM_017612.5(ZCCHC8):c.936G>A (p.Arg312=)not provided [RCV002786662]likely benign12122481604122481604Humanname
156083408CV2060299single nucleotide variantNM_017612.5(ZCCHC8):c.74A>G (p.Lys25Arg)not provided [RCV002823931]uncertain significance12122500767122500767Humanname
155930309CV2067239deletionNM_017612.5(ZCCHC8):c.1346-16_1346-12delnot provided [RCV002838729]likely benign12122474287122474291Humanname
156352721CV2118770single nucleotide variantNM_017612.5(ZCCHC8):c.666A>C (p.Ala222=)not provided [RCV002966419]likely benign12122483284122483284Humanname
156306199CV2129785single nucleotide variantNM_017612.5(ZCCHC8):c.444G>A (p.Glu148=)not provided [RCV002962377]likely benign12122489443122489443Humanname
156087883CV2241360single nucleotide variantNM_017612.5(ZCCHC8):c.95A>G (p.Lys32Arg)not specified [RCV004102494]uncertain significance12122500746122500746Humanname
156056179CV2326644single nucleotide variantNM_017612.5(ZCCHC8):c.94A>C (p.Lys32Gln)not specified [RCV004183178]uncertain significance12122500747122500747Humanname
401895775CV2778809single nucleotide variantNM_017612.5(ZCCHC8):c.28C>A (p.Leu10Ile)not provided [RCV005104130]|not specified [RCV004346707]uncertain significance12122500813122500813Humanname
405075816CV2948593single nucleotide variantNM_017612.5(ZCCHC8):c.957A>C (p.Pro319=)not provided [RCV003664253]likely benign12122481583122481583Humanname
405221396CV2966160single nucleotide variantNM_017612.5(ZCCHC8):c.41A>C (p.Glu14Ala)not provided [RCV003680741]uncertain significance12122500800122500800Humanname
402482469CV3001291single nucleotide variantNM_017612.5(ZCCHC8):c.50A>G (p.Asp17Gly)not provided [RCV003686722]uncertain significance12122500791122500791Humanname
405032502CV3009134single nucleotide variantNM_017612.5(ZCCHC8):c.987G>A (p.Glu329=)not provided [RCV003695678]likely benign12122481553122481553Humanname
404980059CV3009782single nucleotide variantNM_017612.5(ZCCHC8):c.71C>T (p.Pro24Leu)not provided [RCV003691072]uncertain significance12122500770122500770Humanname
405044408CV3017608single nucleotide variantNM_017612.5(ZCCHC8):c.840A>G (p.Glu280=)not provided [RCV003696556]likely benign12122481980122481980Humanname
405108840CV3136614single nucleotide variantNM_017612.5(ZCCHC8):c.651A>G (p.Glu217=)not provided [RCV003835768]likely benign12122483299122483299Humanname
405068927CV3148937single nucleotide variantNM_017612.5(ZCCHC8):c.97G>A (p.Asp33Asn)not provided [RCV003850699]uncertain significance12122500744122500744Humanname
405207191CV3149350single nucleotide variantNM_017612.5(ZCCHC8):c.969C>T (p.Leu323=)not provided [RCV003845260]likely benign12122481571122481571Humanname
597857691CV3769532single nucleotide variantNM_017612.5(ZCCHC8):c.819A>G (p.Arg273=)not provided [RCV005105573]likely benign12122482001122482001Humanname
597893650CV3809973single nucleotide variantNM_017612.5(ZCCHC8):c.774T>C (p.Tyr258=)not provided [RCV005151694]likely benign12122482046122482046Humanname
127316855CV1156933single nucleotide variantNM_017612.5(ZCCHC8):c.1479G>A (p.Pro493=)not provided [RCV001520730]benign12122474142122474142Humanname
127318631CV1156934single nucleotide variantNM_017612.5(ZCCHC8):c.1221C>T (p.Phe407=)not provided [RCV001521732]benign12122478212122478212Humanname
151857050CV1347940single nucleotide variantNM_017612.5(ZCCHC8):c.242G>A (p.Ser81Asn)not provided [RCV001979654]uncertain significance12122498827122498827Humanname
151765642CV1358875single nucleotide variantNM_017612.5(ZCCHC8):c.139G>T (p.Ala47Ser)not provided [RCV001970667]uncertain significance12122500702122500702Humanname
151812663CV1367570single nucleotide variantNM_017612.5(ZCCHC8):c.263C>G (p.Thr88Ser)not provided [RCV001878426]uncertain significance12122492769122492769Humanname
151837818CV1383349single nucleotide variantNM_017612.5(ZCCHC8):c.152A>T (p.Glu51Val)not provided [RCV001935745]uncertain significance12122500689122500689Humanname
151733249CV1386643single nucleotide variantNM_017612.5(ZCCHC8):c.1635G>A (p.Val545=)ZCCHC8-related disorder [RCV004752092]|not provided [RCV001911096]likely benign|uncertain significance12122473986122473986Human1name , trait , alternate_id
151719687CV1397652single nucleotide variantNM_017612.5(ZCCHC8):c.251T>G (p.Leu84Trp)not provided [RCV001982869]|not specified [RCV004043718]uncertain significance12122492781122492781Humanname
151830250CV1405391single nucleotide variantNM_017612.5(ZCCHC8):c.140C>T (p.Ala47Val)not provided [RCV001901739]|not specified [RCV004042628]uncertain significance12122500701122500701Humanname
151834586CV1429117single nucleotide variantNM_017612.5(ZCCHC8):c.212A>G (p.Lys71Arg)not provided [RCV001994055]uncertain significance12122498857122498857Humanname
151761605CV1433697single nucleotide variantNM_017612.5(ZCCHC8):c.1140C>T (p.Asp380=)not provided [RCV002024431]uncertain significance12122480190122480190Humanname
151828659CV1462127single nucleotide variantNM_017612.5(ZCCHC8):c.163C>T (p.Gln55Ter)not provided [RCV001993489]uncertain significance12122500678122500678Humanname
151778209CV1493287single nucleotide variantNM_017612.5(ZCCHC8):c.259G>A (p.Asp87Asn)not provided [RCV001915628]|not specified [RCV004042683]likely benign|uncertain significance12122492773122492773Humanname
151722995CV1498269single nucleotide variantNM_017612.5(ZCCHC8):c.1539C>T (p.Asp513=)not provided [RCV001983339]likely benign12122474082122474082Humanname
151756224CV1517004single nucleotide variantNM_017612.5(ZCCHC8):c.116A>T (p.Glu39Val)not provided [RCV002043772]uncertain significance12122500725122500725Humanname
152073090CV1522913single nucleotide variantNM_017612.5(ZCCHC8):c.1623C>T (p.Ser541=)not provided [RCV002148350]likely benign12122473998122473998Humanname
152175739CV1527139single nucleotide variantNM_017612.5(ZCCHC8):c.1710A>G (p.Gly570=)not provided [RCV002163875]likely benign12122473911122473911Humanname
152037340CV1530538single nucleotide variantNM_017612.5(ZCCHC8):c.1077C>T (p.Tyr359=)not provided [RCV002107213]likely benign12122480253122480253Humanname
152157761CV1541845single nucleotide variantNM_017612.5(ZCCHC8):c.1839G>A (p.Glu613=)not provided [RCV002103202]likely benign12122473782122473782Humanname
152033110CV1542604single nucleotide variantNM_017612.5(ZCCHC8):c.1743T>G (p.Pro581=)not provided [RCV002106505]likely benign12122473878122473878Humanname
152133226CV1547082single nucleotide variantNM_017612.5(ZCCHC8):c.1974C>T (p.Ser658=)ZCCHC8-related disorder [RCV003903567]|not provided [RCV002155812]likely benign12122473647122473647Human1name , trait , alternate_id
152124986CV1553986single nucleotide variantNM_017612.5(ZCCHC8):c.1326C>T (p.Ala442=)not provided [RCV002098692]|not specified [RCV004686719]likely benign12122477860122477860Humanname
152164420CV1557600single nucleotide variantNM_017612.5(ZCCHC8):c.1509C>T (p.Thr503=)not provided [RCV002141516]likely benign12122474112122474112Humanname
152111938CV1558851single nucleotide variantNM_017612.5(ZCCHC8):c.1446C>T (p.Pro482=)not provided [RCV002134595]benign12122474175122474175Humanname
152105473CV1559919single nucleotide variantNM_017612.5(ZCCHC8):c.1467A>G (p.Pro489=)not provided [RCV002133794]likely benign12122474154122474154Humanname
152117447CV1566630single nucleotide variantNM_017612.5(ZCCHC8):c.1338C>T (p.Leu446=)not provided [RCV002153832]likely benign12122477848122477848Humanname
152061086CV1597151single nucleotide variantNM_017612.5(ZCCHC8):c.1005C>T (p.Leu335=)not provided [RCV002208659]likely benign12122481535122481535Humanname
152090883CV1629119single nucleotide variantNM_017612.5(ZCCHC8):c.1254G>A (p.Arg418=)ZCCHC8-related disorder [RCV003971021]|not provided [RCV002114058]likely benign12122477932122477932Human1name , trait , alternate_id
152066977CV1636742single nucleotide variantNM_017612.5(ZCCHC8):c.1749A>G (p.Val583=)not provided [RCV002110921]likely benign12122473872122473872Humanname
152040384CV1649183single nucleotide variantNM_017612.5(ZCCHC8):c.1377C>T (p.Ser459=)not provided [RCV002206256]likely benign12122474244122474244Humanname
152049464CV1656217single nucleotide variantNM_017612.5(ZCCHC8):c.2121A>G (p.Glu707=)not provided [RCV002207333]likely benign12122473500122473500Humanname
152165028CV1658527single nucleotide variantNM_017612.5(ZCCHC8):c.1482G>A (p.Pro494=)ZCCHC8-related disorder [RCV003933486]|not provided [RCV002160367]likely benign12122474139122474139Human1name , trait , alternate_id
152166184CV1661182single nucleotide variantNM_017612.5(ZCCHC8):c.1731G>A (p.Thr577=)not provided [RCV002124174]likely benign12122473890122473890Humanname
156008038CV1870580single nucleotide variantNM_017612.5(ZCCHC8):c.1941C>T (p.Asp647=)not provided [RCV003076927]likely benign12122473680122473680Humanname
155945978CV1911303single nucleotide variantNM_017612.5(ZCCHC8):c.1956G>T (p.Thr652=)ZCCHC8-related disorder [RCV003898866]|not provided [RCV002615935]likely benign12122473665122473665Human1name , trait , alternate_id
156020178CV1915043single nucleotide variantNM_017612.5(ZCCHC8):c.1509C>A (p.Thr503=)not provided [RCV002636670]likely benign12122474112122474112Humanname
156376520CV1917699single nucleotide variantNM_017612.5(ZCCHC8):c.1680A>C (p.Pro560=)not provided [RCV002603627]likely benign12122473941122473941Humanname
156370882CV1923531single nucleotide variantNM_017612.5(ZCCHC8):c.1887C>T (p.Val629=)not provided [RCV002633373]likely benign12122473734122473734Humanname
156449060CV1944313single nucleotide variantNM_017612.5(ZCCHC8):c.1632T>G (p.Pro544=)not provided [RCV003121171]likely benign12122473989122473989Humanname
156226757CV1958803single nucleotide variantNM_017612.5(ZCCHC8):c.1956G>A (p.Thr652=)not provided [RCV002596658]likely benign12122473665122473665Humanname
156189897CV1961627single nucleotide variantNM_017612.5(ZCCHC8):c.280A>T (p.Ile94Leu)not provided [RCV002574376]uncertain significance12122492752122492752Humanname
156280579CV1967901single nucleotide variantNM_017612.5(ZCCHC8):c.1857T>C (p.Thr619=)not provided [RCV002598381]likely benign12122473764122473764Humanname
156270244CV1970914single nucleotide variantNM_017612.5(ZCCHC8):c.196G>A (p.Glu66Lys)Inherited aplastic anemia [RCV003991541]|not provided [RCV002598067]likely pathogenic|uncertain significance12122500645122500645Human1name
156352835CV1974728single nucleotide variantNM_017612.5(ZCCHC8):c.1089A>G (p.Lys363=)not provided [RCV002601948]likely benign12122480241122480241Humanname
156348273CV1989247single nucleotide variantNM_017612.5(ZCCHC8):c.203A>G (p.Gln68Arg)not provided [RCV002631795]|not specified [RCV004877746]uncertain significance12122498866122498866Humanname
156047313CV1996650single nucleotide variantNM_017612.5(ZCCHC8):c.1227G>A (p.Ala409=)not provided [RCV002659249]uncertain significance12122478206122478206Humanname
156342371CV1998292single nucleotide variantNM_017612.5(ZCCHC8):c.1638C>T (p.Asp546=)not provided [RCV002650383]likely benign12122473983122473983Humanname
156017389CV2061708single nucleotide variantNM_017612.5(ZCCHC8):c.288G>T (p.Gln96His)not provided [RCV002820445]uncertain significance12122492744122492744Humanname
155990373CV2066775single nucleotide variantNM_017612.5(ZCCHC8):c.1623C>A (p.Ser541=)not provided [RCV002842934]likely benign12122473998122473998Humanname
156208418CV2103888single nucleotide variantNM_017612.5(ZCCHC8):c.1587A>G (p.Ala529=)not provided [RCV002931957]likely benign12122474034122474034Humanname
156195723CV2175507single nucleotide variantNM_017612.5(ZCCHC8):c.1440T>C (p.Pro480=)not provided [RCV003057986]likely benign12122474181122474181Humanname
401900098CV2780418single nucleotide variantNM_017612.5(ZCCHC8):c.259G>C (p.Asp87His)not specified [RCV004357809]uncertain significance12122492773122492773Humanname
401932563CV2817038single nucleotide variantNM_017612.5(ZCCHC8):c.1425C>A (p.Leu475=)not provided [RCV003392164]likely benign12122474196122474196Humanname
402485619CV2865178single nucleotide variantNM_017612.5(ZCCHC8):c.1887C>G (p.Val629=)not provided [RCV003544442]likely benign12122473734122473734Humanname
405127467CV2883095single nucleotide variantNM_017612.5(ZCCHC8):c.1362T>C (p.His454=)not provided [RCV003559712]likely benign12122474259122474259Humanname
405165280CV2905867single nucleotide variantNM_017612.5(ZCCHC8):c.190C>T (p.Arg64Cys)not provided [RCV003562689]uncertain significance12122500651122500651Humanname
405135773CV2906902single nucleotide variantNM_017612.5(ZCCHC8):c.292C>G (p.Leu98Val)not provided [RCV003560435]uncertain significance12122492740122492740Humanname
402473416CV2908957single nucleotide variantNM_017612.5(ZCCHC8):c.1725G>A (p.Lys575=)not provided [RCV003570993]likely benign12122473896122473896Humanname
405032387CV2922592single nucleotide variantNM_017612.5(ZCCHC8):c.1515A>G (p.Thr505=)not provided [RCV003578456]likely benign12122474106122474106Humanname
402519015CV2936584single nucleotide variantNM_017612.5(ZCCHC8):c.2082C>T (p.Asn694=)not provided [RCV003663106]likely benign12122473539122473539Humanname
405118693CV2957411single nucleotide variantNM_017612.5(ZCCHC8):c.1689A>G (p.Leu563=)not provided [RCV003667204]likely benign12122473932122473932Humanname
405089419CV3025172single nucleotide variantNM_017612.5(ZCCHC8):c.154C>T (p.Arg52Trp)not provided [RCV003699632]uncertain significance12122500687122500687Humanname
405092214CV3026016single nucleotide variantNM_017612.5(ZCCHC8):c.199A>G (p.Asn67Asp)not provided [RCV003699811]uncertain significance12122500642122500642Humanname
402509717CV3042441single nucleotide variantNM_017612.5(ZCCHC8):c.2123A>G (p.Ter708=)not provided [RCV003715582]likely benign12122473498122473498Humanname
405141684CV3046046single nucleotide variantNM_017612.5(ZCCHC8):c.191G>T (p.Arg64Leu)not provided [RCV003725654]uncertain significance12122500650122500650Humanname
404982559CV3121510single nucleotide variantNM_017612.5(ZCCHC8):c.1143A>G (p.Glu381=)not provided [RCV003826309]likely benign12122478290122478290Humanname
405186136CV3124295single nucleotide variantNM_017612.5(ZCCHC8):c.1602C>T (p.Ala534=)not provided [RCV003820494]likely benign12122474019122474019Humanname
405138467CV3130799single nucleotide variantNM_017612.5(ZCCHC8):c.227T>C (p.Ile76Thr)not provided [RCV003839033]uncertain significance12122498842122498842Humanname
405220421CV3154408single nucleotide variantNM_017612.5(ZCCHC8):c.115G>A (p.Glu39Lys)not provided [RCV003847100]|not specified [RCV004366958]uncertain significance12122500726122500726Humanname
405222456CV3154936single nucleotide variantNM_017612.5(ZCCHC8):c.133G>A (p.Gly45Ser)not provided [RCV003847432]uncertain significance12122500708122500708Humanname
405139469CV3155078single nucleotide variantNM_017612.5(ZCCHC8):c.214C>T (p.Arg72Ter)not provided [RCV003855316]uncertain significance12122498855122498855Humanname
405244797CV3161607single nucleotide variantNM_017612.5(ZCCHC8):c.1932T>C (p.Phe644=)not provided [RCV003868320]likely benign12122473689122473689Humanname
404992933CV3176331single nucleotide variantNM_017612.5(ZCCHC8):c.1323C>T (p.Pro441=)not provided [RCV003881763]likely benign12122477863122477863Humanname
402502041CV3180937single nucleotide variantNM_017612.5(ZCCHC8):c.2088C>T (p.Pro696=)not provided [RCV003877954]likely benign12122473533122473533Humanname
597793084CV3630921single nucleotide variantNM_017612.5(ZCCHC8):c.200A>G (p.Asn67Ser)not specified [RCV004877201]uncertain significance12122498869122498869Humanname
597793091CV3630925single nucleotide variantNM_017612.5(ZCCHC8):c.161G>A (p.Arg54Gln)not specified [RCV004877203]uncertain significance12122500680122500680Humanname
597921221CV3738168single nucleotide variantNM_017612.5(ZCCHC8):c.1290G>A (p.Lys430=)not provided [RCV005074767]likely benign12122477896122477896Humanname
597880301CV3744805single nucleotide variantNM_017612.5(ZCCHC8):c.1764A>G (p.Thr588=)not provided [RCV005069830]likely benign12122473857122473857Humanname
597956095CV3754536single nucleotide variantNM_017612.5(ZCCHC8):c.1812A>G (p.Thr604=)not provided [RCV005080386]likely benign12122473809122473809Humanname
597836655CV3757723single nucleotide variantNM_017612.5(ZCCHC8):c.1959C>T (p.Ala653=)not provided [RCV005085737]likely benign12122473662122473662Humanname
597889205CV3804799single nucleotide variantNM_017612.5(ZCCHC8):c.1176A>G (p.Ala392=)not provided [RCV005151061]likely benign12122478257122478257Humanname
597889749CV3804880single nucleotide variantNM_017612.5(ZCCHC8):c.2007A>T (p.Gly669=)not provided [RCV005151142]likely benign12122473614122473614Humanname
597955420CV3809464single nucleotide variantNM_017612.5(ZCCHC8):c.1326C>A (p.Ala442=)not provided [RCV005162189]likely benign12122477860122477860Humanname
597916122CV3814583deletionNM_017612.5(ZCCHC8):c.436del (p.Val146fs)not provided [RCV005154898]uncertain significance12122489451122489451Humanname
597860329CV3817261single nucleotide variantNM_017612.5(ZCCHC8):c.1617C>T (p.Ser539=)not provided [RCV005146641]likely benign12122474004122474004Humanname
15140601CV713394single nucleotide variantNM_017612.5(ZCCHC8):c.2073G>A (p.Leu691=)not provided [RCV000966165]benign12122473548122473548Humanname
15115896CV768922single nucleotide variantNM_017612.5(ZCCHC8):c.1848G>A (p.Pro616=)not provided [RCV000939570]likely benign12122473773122473773Humanname
126745899CV1017578single nucleotide variantNM_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 significance12122483557122483557Human2name
126770209CV1030685single nucleotide variantNM_017612.5(ZCCHC8):c.934C>T (p.Arg312Trp)not provided [RCV001344345]uncertain significance12122481606122481606Humanname
126746049CV1030686single nucleotide variantNM_017612.5(ZCCHC8):c.826G>A (p.Ala276Thr)not provided [RCV001337276]uncertain significance12122481994122481994Humanname
151791584CV1375638single nucleotide variantNM_017612.5(ZCCHC8):c.912G>C (p.Lys304Asn)not provided [RCV001973104]uncertain significance12122481628122481628Humanname
151778030CV1436761single nucleotide variantNM_017612.5(ZCCHC8):c.777G>A (p.Met259Ile)not provided [RCV001971816]uncertain significance12122482043122482043Humanname
151806592CV1453468single nucleotide variantNM_017612.5(ZCCHC8):c.318G>T (p.Lys106Asn)not provided [RCV001877858]uncertain significance12122490567122490567Humanname
151714573CV1469863single nucleotide variantNM_017612.5(ZCCHC8):c.425C>T (p.Pro142Leu)not provided [RCV001890064]|not specified [RCV004041119]uncertain significance12122489462122489462Humanname
151753162CV1480122single nucleotide variantNM_017612.5(ZCCHC8):c.492A>C (p.Glu164Asp)not provided [RCV001927727]uncertain significance12122489395122489395Humanname
151726818CV1482342single nucleotide variantNM_017612.5(ZCCHC8):c.635C>G (p.Ser212Cys)not provided [RCV002020880]uncertain significance12122483315122483315Humanname
151847189CV1483948single nucleotide variantNM_017612.5(ZCCHC8):c.941G>A (p.Arg314His)not provided [RCV001903592]uncertain significance12122481599122481599Humanname
151867939CV1493805single nucleotide variantNM_017612.5(ZCCHC8):c.835G>A (p.Val279Ile)not provided [RCV001960055]uncertain significance12122481985122481985Humanname
151761689CV1502941single nucleotide variantNM_017612.5(ZCCHC8):c.454A>G (p.Lys152Glu)not provided [RCV001914064]|not specified [RCV004044047]uncertain significance12122489433122489433Humanname
152078381CV1666471single nucleotide variantNM_017612.5(ZCCHC8):c.550G>A (p.Gly184Arg)Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV002210909]uncertain significance12122483515122483515Human1name
155681225CV1776701single nucleotide variantNM_017612.5(ZCCHC8):c.740A>G (p.Asn247Ser)not provided [RCV002298247]uncertain significance12122482080122482080Humanname
156375534CV1917535single nucleotide variantNM_017612.5(ZCCHC8):c.880G>A (p.Glu294Lys)not provided [RCV002603545]uncertain significance12122481660122481660Humanname
156035461CV1921341single nucleotide variantNM_017612.5(ZCCHC8):c.910A>C (p.Lys304Gln)not provided [RCV002620032]uncertain significance12122481630122481630Humanname
156088077CV1953380single nucleotide variantNM_017612.5(ZCCHC8):c.664G>A (p.Ala222Thr)not provided [RCV002570128]uncertain significance12122483286122483286Humanname
156155232CV1967612single nucleotide variantNM_017612.5(ZCCHC8):c.737G>A (p.Arg246Gln)not provided [RCV002594278]uncertain significance12122482083122482083Humanname
156143202CV1973704single nucleotide variantNM_017612.5(ZCCHC8):c.346G>A (p.Val116Ile)not provided [RCV002593902]uncertain significance12122490539122490539Humanname
156392814CV1986449single nucleotide variantNM_017612.5(ZCCHC8):c.731T>C (p.Met244Thr)not provided [RCV002604826]uncertain significance12122482636122482636Humanname
155999766CV1987098single nucleotide variantNM_017612.5(ZCCHC8):c.386A>G (p.Asn129Ser)not provided [RCV002618390]uncertain significance12122490499122490499Humanname
155939398CV1995847single nucleotide variantNM_017612.5(ZCCHC8):c.869T>C (p.Val290Ala)not provided [RCV002685362]uncertain significance12122481951122481951Humanname
156285139CV2012722single nucleotide variantNM_017612.5(ZCCHC8):c.868G>A (p.Val290Ile)not provided [RCV002715432]|not specified [RCV005301173]uncertain significance12122481952122481952Humanname
156324577CV2108449single nucleotide variantNM_017612.5(ZCCHC8):c.674C>G (p.Pro225Arg)not provided [RCV002937994]uncertain significance12122482693122482693Humanname
156254888CV2162891single nucleotide variantNM_017612.5(ZCCHC8):c.541G>C (p.Asp181His)not provided [RCV003026465]uncertain significance12122483524122483524Humanname
156070924CV2172617single nucleotide variantNM_017612.5(ZCCHC8):c.930C>G (p.Ile310Met)not provided [RCV003053714]uncertain significance12122481610122481610Humanname
156341862CV2175922single nucleotide variantNM_017612.5(ZCCHC8):c.323A>G (p.Tyr108Cys)not provided [RCV003030328]uncertain significance12122490562122490562Humanname
156241793CV2246155single nucleotide variantNM_017612.5(ZCCHC8):c.698G>A (p.Gly233Asp)not specified [RCV004107627]uncertain significance12122482669122482669Humanname
329396312CV2462501single nucleotide variantNM_017612.5(ZCCHC8):c.835G>T (p.Val279Leu)not provided [RCV005061092]|not specified [RCV004276677]uncertain significance12122481985122481985Humanname
405689835CV2794329single nucleotide variantNM_017612.5(ZCCHC8):c.586G>A (p.Glu196Lys)Dyskeratosis congenita [RCV003991544]uncertain significance12122483479122483479Human1name
405689841CV2794330single nucleotide variantNM_017612.5(ZCCHC8):c.337G>A (p.Glu113Lys)Dyskeratosis congenita [RCV003991545]likely pathogenic12122490548122490548Human1name
405689847CV2794331single nucleotide variantNM_017612.5(ZCCHC8):c.658G>C (p.Val220Leu)Dyskeratosis congenita [RCV003991546]uncertain significance12122483292122483292Human1name
405689854CV2794332single nucleotide variantNM_017612.5(ZCCHC8):c.508G>C (p.Gly170Arg)Inherited aplastic anemia [RCV003991547]likely pathogenic12122483557122483557Human1name
405689860CV2794333single nucleotide variantNM_017612.5(ZCCHC8):c.551G>A (p.Gly184Glu)Inherited acute myeloid leukemia [RCV003991548]likely pathogenic12122483514122483514Human1name
401932565CV2817039single nucleotide variantNM_017612.5(ZCCHC8):c.752T>C (p.Ile251Thr)not provided [RCV003392165]uncertain significance12122482068122482068Humanname
405191161CV2871367single nucleotide variantNM_017612.5(ZCCHC8):c.879G>T (p.Glu293Asp)not provided [RCV003550387]uncertain significance12122481661122481661Humanname
405151138CV2888495single nucleotide variantNM_017612.5(ZCCHC8):c.643G>C (p.Gly215Arg)not provided [RCV003561742]uncertain significance12122483307122483307Humanname
402487114CV2928486single nucleotide variantNM_017612.5(ZCCHC8):c.848T>G (p.Phe283Cys)not provided [RCV003572640]uncertain significance12122481972122481972Humanname
402521158CV2940130single nucleotide variantNM_017612.5(ZCCHC8):c.935G>A (p.Arg312Gln)not provided [RCV003663316]uncertain significance12122481605122481605Humanname
405095921CV2944081single nucleotide variantNM_017612.5(ZCCHC8):c.482A>G (p.Asn161Ser)not provided [RCV003665645]uncertain significance12122489405122489405Humanname
405158691CV2961143single nucleotide variantNM_017612.5(ZCCHC8):c.588A>T (p.Glu196Asp)not provided [RCV003670573]uncertain significance12122483477122483477Humanname
405227529CV2963587single nucleotide variantNM_017612.5(ZCCHC8):c.646C>A (p.Gln216Lys)not provided [RCV003681679]uncertain significance12122483304122483304Humanname
405231415CV2964650single nucleotide variantNM_017612.5(ZCCHC8):c.606G>C (p.Lys202Asn)not provided [RCV003682319]uncertain significance12122483344122483344Humanname
405215528CV2981543single nucleotide variantNM_017612.5(ZCCHC8):c.931T>C (p.Tyr311His)not provided [RCV003709194]uncertain significance12122481609122481609Humanname
405009895CV2987035single nucleotide variantNM_017612.5(ZCCHC8):c.344T>C (p.Phe115Ser)not provided [RCV003693891]uncertain significance12122490541122490541Humanname
405123981CV3021100single nucleotide variantNM_017612.5(ZCCHC8):c.538C>G (p.Leu180Val)not provided [RCV003701055]uncertain significance12122483527122483527Humanname
405007223CV3120870single nucleotide variantNM_017612.5(ZCCHC8):c.475A>G (p.Ile159Val)not provided [RCV003828473]uncertain significance12122489412122489412Humanname
405041239CV3141061single nucleotide variantNM_017612.5(ZCCHC8):c.484A>C (p.Asn162His)not provided [RCV003831354]uncertain significance12122489403122489403Humanname
405699448CV3227170single nucleotide variantNM_017612.5(ZCCHC8):c.574C>G (p.Pro192Ala)Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV003993521]uncertain significance12122483491122483491Human1name
597753550CV3630923single nucleotide variantNM_017612.5(ZCCHC8):c.707A>G (p.Glu236Gly)not specified [RCV004893185]uncertain significance12122482660122482660Humanname
597847576CV3746372single nucleotide variantNM_017612.5(ZCCHC8):c.818G>A (p.Arg273Gln)not provided [RCV005060190]uncertain significance12122482002122482002Humanname
597857739CV3748193single nucleotide variantNM_017612.5(ZCCHC8):c.692A>G (p.Asn231Ser)not provided [RCV005067015]uncertain significance12122482675122482675Humanname
597934281CV3750428single nucleotide variantNM_017612.5(ZCCHC8):c.644G>T (p.Gly215Val)not provided [RCV005076353]uncertain significance12122483306122483306Humanname
597951711CV3756509single nucleotide variantNM_017612.5(ZCCHC8):c.848T>C (p.Phe283Ser)not provided [RCV005079566]uncertain significance12122481972122481972Humanname
597944305CV3776560single nucleotide variantNM_017612.5(ZCCHC8):c.422A>G (p.Gln141Arg)not provided [RCV005119416]uncertain significance12122490463122490463Humanname
597909320CV3781992single nucleotide variantNM_017612.5(ZCCHC8):c.488A>G (p.Lys163Arg)not provided [RCV005128484]uncertain significance12122489399122489399Humanname
597950582CV3798113single nucleotide variantNM_017612.5(ZCCHC8):c.909C>G (p.Asp303Glu)not provided [RCV005135893]uncertain significance12122481631122481631Humanname
597913612CV3817442single nucleotide variantNM_017612.5(ZCCHC8):c.385A>G (p.Asn129Asp)not provided [RCV005154644]uncertain significance12122490500122490500Humanname
597843109CV3827259single nucleotide variantNM_017612.5(ZCCHC8):c.833A>T (p.Glu278Val)not provided [RCV005172530]uncertain significance12122481987122481987Humanname
597974259CV3831180single nucleotide variantNM_017612.5(ZCCHC8):c.573C>G (p.Asn191Lys)not provided [RCV005168318]uncertain significance12122483492122483492Humanname
597870040CV3839332single nucleotide variantNM_017612.5(ZCCHC8):c.605A>G (p.Lys202Arg)not provided [RCV005176443]uncertain significance12122483460122483460Humanname
597901862CV3845501single nucleotide variantNM_017612.5(ZCCHC8):c.611A>G (p.His204Arg)not provided [RCV005181311]uncertain significance12122483339122483339Humanname
597871568CV3849342single nucleotide variantNM_017612.5(ZCCHC8):c.838G>A (p.Glu280Lys)not provided [RCV005197523]uncertain significance12122481982122481982Humanname
597899203CV3854645deletionNM_017612.5(ZCCHC8):c.1139del (p.Asp380fs)not provided [RCV005201753]uncertain significance12122480191122480191Humanname
597889823CV3856139single nucleotide variantNM_017612.5(ZCCHC8):c.308C>T (p.Ala103Val)not provided [RCV005200384]uncertain significance12122492724122492724Humanname
15040339CV682793single nucleotide variantNM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu)Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV000856725]|not provided [RCV004546569]pathogenic12122483508122483508Human1name
126768287CV1030684single nucleotide variantNM_017612.5(ZCCHC8):c.1378G>A (p.Glu460Lys)not provided [RCV001343268]uncertain significance12122474243122474243Humanname
126915860CV1047696single nucleotide variantNM_017612.5(ZCCHC8):c.1730C>T (p.Thr577Met)not provided [RCV001360232]|not specified [RCV004036757]likely benign|uncertain significance12122473891122473891Humanname
127260350CV1100889single nucleotide variantNM_017612.5(ZCCHC8):c.1777G>T (p.Ala593Ser)ZCCHC8-related disorder [RCV003946122]|not provided [RCV001427808]likely benign12122473844122473844Human1name , trait , alternate_id
151887290CV1341247single nucleotide variantNM_017612.5(ZCCHC8):c.1505A>C (p.Gln502Pro)not provided [RCV001887732]|not specified [RCV004038987]likely benign|uncertain significance12122474116122474116Humanname
151863405CV1353654single nucleotide variantNM_017612.5(ZCCHC8):c.1226C>T (p.Ala409Val)not provided [RCV001924303]uncertain significance12122478207122478207Humanname
151877532CV1361441single nucleotide variantNM_017612.5(ZCCHC8):c.1430G>A (p.Arg477Gln)not provided [RCV001926012]uncertain significance12122474191122474191Humanname
151813821CV1366435single nucleotide variantNM_017612.5(ZCCHC8):c.1079A>T (p.Asp360Val)not provided [RCV001933467]uncertain significance12122480251122480251Humanname
151886253CV1367345single nucleotide variantNM_017612.5(ZCCHC8):c.1396C>T (p.Pro466Ser)not provided [RCV002000647]uncertain significance12122474225122474225Humanname
151832647CV1370406single nucleotide variantNM_017612.5(ZCCHC8):c.1750C>T (p.Pro584Ser)not provided [RCV001993864]uncertain significance12122473871122473871Humanname
151739113CV1379311single nucleotide variantNM_017612.5(ZCCHC8):c.1862G>C (p.Gly621Ala)not provided [RCV001911752]uncertain significance12122473759122473759Humanname
151813152CV1382609single nucleotide variantNM_017612.5(ZCCHC8):c.1429C>T (p.Arg477Trp)not provided [RCV002049050]uncertain significance12122474192122474192Humanname
151846675CV1386657single nucleotide variantNM_017612.5(ZCCHC8):c.1736A>T (p.Asp579Val)not provided [RCV001882034]uncertain significance12122473885122473885Humanname
151728698CV1388691single nucleotide variantNM_017612.5(ZCCHC8):c.1447G>A (p.Val483Ile)not provided [RCV001966889]uncertain significance12122474174122474174Humanname
151791252CV1393226single nucleotide variantNM_017612.5(ZCCHC8):c.1604A>G (p.Glu535Gly)not provided [RCV001931440]uncertain significance12122474017122474017Humanname
151746367CV1402030single nucleotide variantNM_017612.5(ZCCHC8):c.1683T>G (p.Asn561Lys)not provided [RCV002042771]uncertain significance12122473938122473938Humanname
151764915CV1403213single nucleotide variantNM_017612.5(ZCCHC8):c.1835C>A (p.Ala612Glu)not provided [RCV001914401]uncertain significance12122473786122473786Humanname
151765024CV1403231single nucleotide variantNM_017612.5(ZCCHC8):c.1660G>A (p.Val554Ile)not provided [RCV001914413]uncertain significance12122473961122473961Humanname
151835276CV1420188single nucleotide variantNM_017612.5(ZCCHC8):c.1174G>T (p.Ala392Ser)not provided [RCV001977071]uncertain significance12122478259122478259Humanname
151731105CV1421271single nucleotide variantNM_017612.5(ZCCHC8):c.1325C>T (p.Ala442Val)not provided [RCV001892259]uncertain significance12122477861122477861Humanname
151774715CV1427127single nucleotide variantNM_017612.5(ZCCHC8):c.1098C>G (p.Asn366Lys)not provided [RCV001864404]uncertain significance12122480232122480232Humanname
151744419CV1432854single nucleotide variantNM_017612.5(ZCCHC8):c.1370A>T (p.Gln457Leu)Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 [RCV003492714]|not provided [RCV001968480]uncertain significance12122474251122474251Human1name
151758924CV1443726single nucleotide variantNM_017612.5(ZCCHC8):c.1961C>T (p.Thr654Ile)not provided [RCV001873010]uncertain significance12122473660122473660Humanname
151819232CV1452773single nucleotide variantNM_017612.5(ZCCHC8):c.1910A>T (p.Asn637Ile)not provided [RCV002029722]uncertain significance12122473711122473711Humanname
151774706CV1455683single nucleotide variantNM_017612.5(ZCCHC8):c.1933C>T (p.Pro645Ser)not provided [RCV002045578]uncertain significance12122473688122473688Humanname
151813530CV1460270single nucleotide variantNM_017612.5(ZCCHC8):c.1652G>A (p.Gly551Asp)ZCCHC8-related disorder [RCV003956415]|not provided [RCV001878508]likely benign|uncertain significance12122473969122473969Human1name , trait , alternate_id
151779091CV1463435single nucleotide variantNM_017612.5(ZCCHC8):c.1495G>A (p.Asp499Asn)not provided [RCV001875187]uncertain significance12122474126122474126Humanname
151736258CV1465969single nucleotide variantNM_017612.5(ZCCHC8):c.1697C>T (p.Pro566Leu)not provided [RCV002041748]|not specified [RCV004038768]uncertain significance12122473924122473924Humanname
151714358CV1469722single nucleotide variantNM_017612.5(ZCCHC8):c.1577G>A (p.Arg526Gln)not provided [RCV001890020]|not specified [RCV004041114]uncertain significance12122474044122474044Humanname
151716418CV1472794single nucleotide variantNM_017612.5(ZCCHC8):c.1948C>A (p.Pro650Thr)not provided [RCV002039406]uncertain significance12122473673122473673Humanname
151752450CV1473909single nucleotide variantNM_017612.5(ZCCHC8):c.1666T>A (p.Ser556Thr)not provided [RCV001872396]|not specified [RCV004877713]uncertain significance12122473955122473955Humanname
151843170CV1475563single nucleotide variantNM_017612.5(ZCCHC8):c.1540G>T (p.Ala514Ser)not provided [RCV001995006]uncertain significance12122474081122474081Humanname
151819774CV1490591single nucleotide variantNM_017612.5(ZCCHC8):c.1046G>A (p.Gly349Glu)not provided [RCV001992654]uncertain significance12122480284122480284Humanname
151740516CV1492448single nucleotide variantNM_017612.5(ZCCHC8):c.1847C>T (p.Pro616Leu)ZCCHC8-related disorder [RCV003892890]|not provided [RCV002042184]likely benign|uncertain significance12122473774122473774Human1name , trait , alternate_id
151790968CV1509222single nucleotide variantNM_017612.5(ZCCHC8):c.1703C>T (p.Pro568Leu)not provided [RCV001876510]uncertain significance12122473918122473918Humanname
151732069CV1509704single nucleotide variantNM_017612.5(ZCCHC8):c.2000C>T (p.Ala667Val)not provided [RCV001892356]|not specified [RCV004041277]uncertain significance12122473621122473621Humanname
151748951CV1511941single nucleotide variantNM_017612.5(ZCCHC8):c.2093A>T (p.Asn698Ile)not provided [RCV001986076]uncertain significance12122473528122473528Humanname
152148971CV1566427single nucleotide variantNM_017612.5(ZCCHC8):c.1529T>C (p.Val510Ala)not provided [RCV002139229]likely benign12122474092122474092Humanname
152104685CV1622698single nucleotide variantNM_017612.5(ZCCHC8):c.1910A>G (p.Asn637Ser)ZCCHC8-related disorder [RCV003968807]|not provided [RCV002214646]likely benign12122473711122473711Human1name , trait , alternate_id
155713810CV1775959single nucleotide variantNM_017612.5(ZCCHC8):c.1204T>C (p.Tyr402His)not provided [RCV002296303]uncertain significance12122478229122478229Humanname
155714765CV1776028single nucleotide variantNM_017612.5(ZCCHC8):c.1517C>T (p.Ala506Val)not provided [RCV002296357]uncertain significance12122474104122474104Humanname
156408461CV1870059single nucleotide variantNM_017612.5(ZCCHC8):c.1813T>G (p.Ser605Ala)not provided [RCV003071276]uncertain significance12122473808122473808Humanname
156225791CV1896360single nucleotide variantNM_017612.5(ZCCHC8):c.1964A>G (p.Lys655Arg)not provided [RCV003085171]uncertain significance12122473657122473657Humanname
156254089CV1967338single nucleotide variantNM_017612.5(ZCCHC8):c.1540G>A (p.Ala514Thr)not provided [RCV002597566]|not specified [RCV004686730]uncertain significance12122474081122474081Humanname
156124278CV1969328single nucleotide variantNM_017612.5(ZCCHC8):c.1860A>T (p.Glu620Asp)not provided [RCV002593246]uncertain significance12122473761122473761Humanname
156338247CV1973920single nucleotide variantNM_017612.5(ZCCHC8):c.1618G>A (p.Asp540Asn)not provided [RCV002601144]|not specified [RCV004877741]uncertain significance12122474003122474003Humanname
156389042CV1979901single nucleotide variantNM_017612.5(ZCCHC8):c.1615A>G (p.Ser539Gly)not provided [RCV002634826]uncertain significance12122474006122474006Humanname
156399124CV1982098single nucleotide variantNM_017612.5(ZCCHC8):c.1151T>A (p.Ile384Asn)not provided [RCV002635800]uncertain significance12122478282122478282Humanname
156116227CV1995553single nucleotide variantNM_017612.5(ZCCHC8):c.1475C>T (p.Thr492Ile)not provided [RCV002640133]uncertain significance12122474146122474146Humanname
156027889CV2004721single nucleotide variantNM_017612.5(ZCCHC8):c.1373G>A (p.Ser458Asn)not provided [RCV002658533]uncertain significance12122474248122474248Humanname
156103918CV2009967single nucleotide variantNM_017612.5(ZCCHC8):c.1429C>G (p.Arg477Gly)not provided [RCV002706775]|not specified [RCV004067681]uncertain significance12122474192122474192Humanname
156095429CV2010566single nucleotide variantNM_017612.5(ZCCHC8):c.1235T>G (p.Val412Gly)not provided [RCV002695098]uncertain significance12122477951122477951Humanname
156308417CV2021596single nucleotide variantNM_017612.5(ZCCHC8):c.1965A>C (p.Lys655Asn)not provided [RCV002716393]uncertain significance12122473656122473656Humanname
156025904CV2043486single nucleotide variantNM_017612.5(ZCCHC8):c.1313C>T (p.Ala438Val)not provided [RCV002780894]uncertain significance12122477873122477873Humanname
156246990CV2044771single nucleotide variantNM_017612.5(ZCCHC8):c.1339G>A (p.Asp447Asn)not provided [RCV002805876]|not specified [RCV004064821]uncertain significance12122477847122477847Humanname
156126561CV2046836single nucleotide variantNM_017612.5(ZCCHC8):c.1379A>C (p.Glu460Ala)not provided [RCV002800444]uncertain significance12122474242122474242Humanname
156171364CV2053382single nucleotide variantNM_017612.5(ZCCHC8):c.1609G>C (p.Val537Leu)not provided [RCV002801961]uncertain significance12122474012122474012Humanname
156151825CV2131807single nucleotide variantNM_017612.5(ZCCHC8):c.1718C>G (p.Ser573Cys)not provided [RCV002982680]uncertain significance12122473903122473903Humanname
156019179CV2141104single nucleotide variantNM_017612.5(ZCCHC8):c.2002A>G (p.Thr668Ala)not provided [RCV002976064]|not specified [RCV004065041]likely benign|uncertain significance12122473619122473619Humanname
156294394CV2152894single nucleotide variantNM_017612.5(ZCCHC8):c.1844C>T (p.Ala615Val)not provided [RCV003010099]uncertain significance12122473777122473777Humanname
155973122CV2154578single nucleotide variantNM_017612.5(ZCCHC8):c.1223A>T (p.Gln408Leu)not provided [RCV003033526]uncertain significance12122478210122478210Humanname
156132371CV2169232single nucleotide variantNM_017612.5(ZCCHC8):c.1441C>T (p.Pro481Ser)not provided [RCV003022226]uncertain significance12122474180122474180Humanname
156088180CV2170728single nucleotide variantNM_017612.5(ZCCHC8):c.1129G>A (p.Gly377Arg)not provided [RCV003038122]uncertain significance12122480201122480201Humanname
156209871CV2175608single nucleotide variantNM_017612.5(ZCCHC8):c.1273C>T (p.Pro425Ser)not provided [RCV003024764]uncertain significance12122477913122477913Humanname
156366959CV2177716single nucleotide variantNM_017612.5(ZCCHC8):c.2041T>C (p.Ser681Pro)not provided [RCV003049412]uncertain significance12122473580122473580Humanname
156341330CV2225812single nucleotide variantNM_017612.5(ZCCHC8):c.1316G>A (p.Gly439Glu)not specified [RCV004103218]uncertain significance12122477870122477870Humanname
156043612CV2237499single nucleotide variantNM_017612.5(ZCCHC8):c.1462C>T (p.Leu488Phe)not specified [RCV004106453]uncertain significance12122474159122474159Humanname
156044564CV2305938single nucleotide variantNM_017612.5(ZCCHC8):c.1315G>C (p.Gly439Arg)not specified [RCV004167719]uncertain significance12122477871122477871Humanname
156157277CV2378695single nucleotide variantNM_017612.5(ZCCHC8):c.1624G>A (p.Asp542Asn)not provided [RCV003778605]|not specified [RCV004231161]uncertain significance12122473997122473997Humanname
329357782CV2453785single nucleotide variantNM_017612.5(ZCCHC8):c.2110A>C (p.Lys704Gln)not specified [RCV004269406]uncertain significance12122473511122473511Humanname
11525879CV247072single nucleotide variantNM_017612.5(ZCCHC8):c.1349T>C (p.Met450Thr)not provided [RCV003736673]|not specified [RCV000239009]uncertain significance12122474272122474272Humanname
401864914CV2757282single nucleotide variantNM_017612.5(ZCCHC8):c.1770A>C (p.Lys590Asn)ZCCHC8-related disorder [RCV003901018]|not provided [RCV003561316]|not specified [RCV004338872]uncertain significance12122473851122473851Human1name , trait , alternate_id
401865133CV2768679single nucleotide variantNM_017612.5(ZCCHC8):c.2090G>A (p.Arg697Gln)not provided [RCV005061327]|not specified [RCV004344526]uncertain significance12122473531122473531Humanname
401891811CV2780811single nucleotide variantNM_017612.5(ZCCHC8):c.1308C>G (p.Asn436Lys)not specified [RCV004352129]uncertain significance12122477878122477878Humanname
401912069CV2796047single nucleotide variantNM_017612.5(ZCCHC8):c.1576C>T (p.Arg526Trp)ZCCHC8-related disorder [RCV003399743]|not provided [RCV005104308]|not specified [RCV004887721]uncertain significance12122474045122474045Human1name , trait , alternate_id
401920670CV2796507single nucleotide variantNM_017612.5(ZCCHC8):c.1994A>G (p.Lys665Arg)ZCCHC8-related disorder [RCV003402543]uncertain significance12122473627122473627Humanname , trait , alternate_id
405194742CV2868572single nucleotide variantNM_017612.5(ZCCHC8):c.1492A>C (p.Ser498Arg)not provided [RCV003550713]uncertain significance12122474129122474129Humanname
402502673CV2869398single nucleotide variantNM_017612.5(ZCCHC8):c.1226C>A (p.Ala409Glu)not provided [RCV003546069]|not specified [RCV004887730]uncertain significance12122478207122478207Humanname
405237317CV2881130single nucleotide variantNM_017612.5(ZCCHC8):c.2012C>T (p.Thr671Met)not provided [RCV003556653]uncertain significance12122473609122473609Humanname
402472856CV2908714single nucleotide variantNM_017612.5(ZCCHC8):c.1790C>G (p.Ser597Cys)not provided [RCV003570874]uncertain significance12122473831122473831Humanname
402475324CV2919778single nucleotide variantNM_017612.5(ZCCHC8):c.1096A>G (p.Asn366Asp)not provided [RCV003571205]uncertain significance12122480234122480234Humanname
405013332CV2933950single nucleotide variantNM_017612.5(ZCCHC8):c.1445C>G (p.Pro482Arg)not provided [RCV003576863]uncertain significance12122474176122474176Humanname
402483950CV2944827single nucleotide variantNM_017612.5(ZCCHC8):c.1991G>A (p.Ser664Asn)not provided [RCV003659901]uncertain significance12122473630122473630Humanname
402485435CV2944901single nucleotide variantNM_017612.5(ZCCHC8):c.1466C>G (p.Pro489Arg)not provided [RCV003659951]uncertain significance12122474155122474155Humanname
405153916CV2949360single nucleotide variantNM_017612.5(ZCCHC8):c.1816C>T (p.Leu606Phe)not provided [RCV003674201]uncertain significance12122473805122473805Humanname
405182817CV2952783single nucleotide variantNM_017612.5(ZCCHC8):c.1776A>C (p.Glu592Asp)not provided [RCV003676449]uncertain significance12122473845122473845Humanname
405232210CV2974728single nucleotide variantNM_017612.5(ZCCHC8):c.1483C>G (p.Leu495Val)not provided [RCV003682449]uncertain significance12122474138122474138Humanname
405013561CV2994154single nucleotide variantNM_017612.5(ZCCHC8):c.1878T>A (p.Asn626Lys)not provided [RCV003694193]|not specified [RCV005311032]uncertain significance12122473743122473743Humanname
405238593CV2996778single nucleotide variantNM_017612.5(ZCCHC8):c.1141G>A (p.Glu381Lys)not provided [RCV003718696]uncertain significance12122478292122478292Humanname
405118370CV2997435single nucleotide variantNM_017612.5(ZCCHC8):c.1381A>G (p.Ser461Gly)not provided [RCV003723607]uncertain significance12122474240122474240Humanname
402496690CV3005923single nucleotide variantNM_017612.5(ZCCHC8):c.1258T>G (p.Ser420Ala)not provided [RCV003688081]uncertain significance12122477928122477928Humanname
405133771CV3018370single nucleotide variantNM_017612.5(ZCCHC8):c.1376G>A (p.Ser459Asn)not provided [RCV003701925]uncertain significance12122474245122474245Humanname
405176820CV3019981single nucleotide variantNM_017612.5(ZCCHC8):c.1006T>C (p.Tyr336His)not provided [RCV003705166]uncertain significance12122481534122481534Humanname
405223756CV3035827single nucleotide variantNM_017612.5(ZCCHC8):c.1882A>G (p.Ser628Gly)not provided [RCV003710354]uncertain significance12122473739122473739Humanname
405207871CV3036932single nucleotide variantNM_017612.5(ZCCHC8):c.1651G>A (p.Gly551Ser)not provided [RCV003708155]uncertain significance12122473970122473970Humanname
405227917CV3065679single nucleotide variantNM_017612.5(ZCCHC8):c.1539C>G (p.Asp513Glu)not provided [RCV003734380]uncertain significance12122474082122474082Humanname
405213922CV3078351single nucleotide variantNM_017612.5(ZCCHC8):c.1327G>A (p.Asp443Asn)not provided [RCV003732384]uncertain significance12122477859122477859Humanname
405187891CV3121249single nucleotide variantNM_017612.5(ZCCHC8):c.1609G>A (p.Val537Ile)not provided [RCV003820705]uncertain significance12122474012122474012Humanname
405144656CV3126174single nucleotide variantNM_017612.5(ZCCHC8):c.1144T>C (p.Trp382Arg)not provided [RCV003817090]uncertain significance12122478289122478289Humanname
405217543CV3139528single nucleotide variantNM_017612.5(ZCCHC8):c.1334A>G (p.Glu445Gly)not provided [RCV003824219]uncertain significance12122477852122477852Humanname
405214645CV3143154single nucleotide variantNM_017612.5(ZCCHC8):c.1603G>A (p.Glu535Lys)not provided [RCV003846317]uncertain significance12122474018122474018Humanname
405168506CV3149834single nucleotide variantNM_017612.5(ZCCHC8):c.1379A>G (p.Glu460Gly)not provided [RCV003841305]|not specified [RCV004877835]uncertain significance12122474242122474242Humanname
405205829CV3165658single nucleotide variantNM_017612.5(ZCCHC8):c.1867C>T (p.Leu623Phe)not provided [RCV003861324]uncertain significance12122473754122473754Humanname
404978926CV3176012single nucleotide variantNM_017612.5(ZCCHC8):c.1361A>G (p.His454Arg)not provided [RCV003880112]uncertain significance12122474260122474260Humanname
405250623CV3180793single nucleotide variantNM_017612.5(ZCCHC8):c.1426C>T (p.Pro476Ser)not provided [RCV003870071]uncertain significance12122474195122474195Humanname
405812745CV3353478single nucleotide variantNM_017612.5(ZCCHC8):c.1480C>T (p.Pro494Ser)not specified [RCV004483486]uncertain significance12122474141122474141Humanname
405812749CV3353480single nucleotide variantNM_017612.5(ZCCHC8):c.1837G>C (p.Glu613Gln)not specified [RCV004483488]uncertain significance12122473784122473784Humanname
405812751CV3353481single nucleotide variantNM_017612.5(ZCCHC8):c.1880G>T (p.Gly627Val)not provided [RCV005104783]|not specified [RCV004483489]uncertain significance12122473741122473741Humanname
405812752CV3353482single nucleotide variantNM_017612.5(ZCCHC8):c.1894A>C (p.Asn632His)not specified [RCV004483490]uncertain significance12122473727122473727Humanname
407457071CV3492005single nucleotide variantNM_017612.5(ZCCHC8):c.1720G>A (p.Glu574Lys)not specified [RCV004686190]uncertain significance12122473901122473901Humanname
407457073CV3492006single nucleotide variantNM_017612.5(ZCCHC8):c.1681A>G (p.Asn561Asp)not specified [RCV004686191]uncertain significance12122473940122473940Humanname
596932678CV3539305single nucleotide variantNM_017612.5(ZCCHC8):c.1829A>T (p.Glu610Val)not provided [RCV004793928]uncertain significance12122473792122473792Humanname
597793088CV3630924single nucleotide variantNM_017612.5(ZCCHC8):c.1042G>A (p.Val348Ile)not provided [RCV005110009]|not specified [RCV004877202]likely benign|uncertain significance12122480288122480288Humanname
597899146CV3740905single nucleotide variantNM_017612.5(ZCCHC8):c.1627G>C (p.Val543Leu)not provided [RCV005072068]uncertain significance12122473994122473994Humanname
597929692CV3742109single nucleotide variantNM_017612.5(ZCCHC8):c.1843G>C (p.Ala615Pro)not provided [RCV005075741]uncertain significance12122473778122473778Humanname
597857145CV3748133single nucleotide variantNM_017612.5(ZCCHC8):c.1534G>C (p.Glu512Gln)not provided [RCV005066955]uncertain significance12122474087122474087Humanname
597893082CV3749411single nucleotide variantNM_017612.5(ZCCHC8):c.1031G>A (p.Gly344Glu)not provided [RCV005071195]uncertain significance12122480299122480299Humanname
597965169CV3751105single nucleotide variantNM_017612.5(ZCCHC8):c.1699G>T (p.Val567Phe)not provided [RCV005082667]uncertain significance12122473922122473922Humanname
597966674CV3751638single nucleotide variantNM_017612.5(ZCCHC8):c.1900G>A (p.Asp634Asn)not provided [RCV005083008]uncertain significance12122473721122473721Humanname
597938644CV3760147single nucleotide variantNM_017612.5(ZCCHC8):c.1114A>G (p.Ile372Val)not provided [RCV005077071]uncertain significance12122480216122480216Humanname
597944971CV3779518single nucleotide variantNM_017612.5(ZCCHC8):c.1955C>G (p.Thr652Arg)not provided [RCV005134482]uncertain significance12122473666122473666Humanname
597954670CV3786736single nucleotide variantNM_017612.5(ZCCHC8):c.1175C>G (p.Ala392Gly)not provided [RCV005121827]uncertain significance12122478258122478258Humanname
597938970CV3788394single nucleotide variantNM_017612.5(ZCCHC8):c.1960A>G (p.Thr654Ala)not provided [RCV005133069]uncertain significance12122473661122473661Humanname
597956444CV3792415single nucleotide variantNM_017612.5(ZCCHC8):c.1625A>C (p.Asp542Ala)not provided [RCV005137302]uncertain significance12122473996122473996Humanname
597970974CV3802358single nucleotide variantNM_017612.5(ZCCHC8):c.1439C>A (p.Pro480His)not provided [RCV005141956]uncertain significance12122474182122474182Humanname
597955380CV3809458single nucleotide variantNM_017612.5(ZCCHC8):c.1936G>A (p.Ala646Thr)not provided [RCV005162183]uncertain significance12122473685122473685Humanname
597893819CV3809995single nucleotide variantNM_017612.5(ZCCHC8):c.1357C>T (p.Pro453Ser)not provided [RCV005151716]uncertain significance12122474264122474264Humanname
597948900CV3818433single nucleotide variantNM_017612.5(ZCCHC8):c.1985A>C (p.Asp662Ala)not provided [RCV005160694]uncertain significance12122473636122473636Humanname
597973222CV3820356single nucleotide variantNM_017612.5(ZCCHC8):c.2008A>G (p.Ile670Val)not provided [RCV005167873]uncertain significance12122473613122473613Humanname
597936013CV3845350single nucleotide variantNM_017612.5(ZCCHC8):c.1806G>C (p.Glu602Asp)not provided [RCV005186663]uncertain significance12122473815122473815Humanname
15126012CV713395single nucleotide variantNM_017612.5(ZCCHC8):c.1987A>G (p.Met663Val)not provided [RCV000963674]benign12122473634122473634Humanname
15153104CV713396single nucleotide variantNM_017612.5(ZCCHC8):c.1642C>T (p.Pro548Ser)not provided [RCV000968482]likely benign12122473979122473979Humanname
15108415CV713397single nucleotide variantNM_017612.5(ZCCHC8):c.1627G>A (p.Val543Ile)not provided [RCV000960484]benign12122473994122473994Humanname
15140608CV713398single nucleotide variantNM_017612.5(ZCCHC8):c.1481C>T (p.Pro494Leu)not provided [RCV000966166]likely benign12122474140122474140Humanname
15190588CV738514single nucleotide variantNM_017612.5(ZCCHC8):c.1550T>C (p.Leu517Pro)not provided [RCV000909995]likely benign12122474071122474071Humanname
38469545CV921216single nucleotide variantNM_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 significance12122474134122474134Human1name
127243452CV1079132microsatelliteNM_017612.5(ZCCHC8):c.830AAG[1] (p.Glu278del)ZCCHC8-related disorder [RCV003953765]|not provided [RCV001416152]likely benign12122481985122481987Humanname , trait , alternate_id
151773569CV1424042microsatelliteNM_017612.5(ZCCHC8):c.765_771del (p.Arg255fs)not provided [RCV002045479]uncertain significance12122482049122482055Humanname
597908998CV3781719duplicationNM_017612.5(ZCCHC8):c.648_658dup (p.Val220fs)not provided [RCV005128407]uncertain significance12122483291122483292Humanname
156009532CV2075445microsatelliteNM_017612.5(ZCCHC8):c.1180CAG[1] (p.Gln395del)not provided [RCV002843797]uncertain significance12122478248122478250Humanname
151855795CV1376217deletionNM_017612.5(ZCCHC8):c.1570_1573del (p.Gln524fs)not provided [RCV002033751]uncertain significance12122474048122474051Humanname
156172710CV2053435deletionNM_017612.5(ZCCHC8):c.1059_1060del (p.Gln353_Asn354insTer)not provided [RCV002801998]uncertain significance12122480270122480271Humanname