Nek8 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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438 records found for search term Nek8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
407453504	CV3415363	single nucleotide variant	NEK8, ARG45TRP	Polycystic kidney disease 8 [RCV004597559]	pathogenic				Human	1	name
28899232	CV877107	single nucleotide variant	NM_178170.3(NEK8):c.*19T>C	Nephronophthisis 9 [RCV001123873]\|not provided [RCV002265002]	benign\|likely benign	17	28742006	28742006	Human	1	name
10042525	CV187127	deletion	NM_178170.3(NEK8):c.47+1del	not specified [RCV000169669]	uncertain significance	17	28728859	28728859	Human		name
11621168	CV327915	single nucleotide variant	NM_178170.3(NEK8):c.*328C>T	Nephronophthisis 9 [RCV000345458]	uncertain significance	17	28742315	28742315	Human	1	name
11626124	CV327919	single nucleotide variant	NM_178170.3(NEK8):c.*578A>C	Nephronophthisis 9 [RCV000407433]\|not provided [RCV004705349]	likely benign\|uncertain significance	17	28742565	28742565	Human	1	name
11659402	CV327921	single nucleotide variant	NM_178170.3(NEK8):c.*763A>G	Nephronophthisis 9 [RCV000357635]	uncertain significance	17	28742750	28742750	Human	1	name
11623984	CV337725	single nucleotide variant	NM_178170.3(NEK8):c.*156G>A	Nephronophthisis 9 [RCV000380198]	uncertain significance	17	28742143	28742143	Human	1	name
11649130	CV337729	single nucleotide variant	NM_178170.3(NEK8):c.*163G>T	Nephronophthisis 9 [RCV000285712]	uncertain significance	17	28742150	28742150	Human	1	name
11615899	CV337736	single nucleotide variant	NM_178170.3(NEK8):c.*344C>T	Nephronophthisis 9 [RCV000290240]	uncertain significance	17	28742331	28742331	Human	1	name
11621689	CV337738	single nucleotide variant	NM_178170.3(NEK8):c.*420C>T	Nephronophthisis 9 [RCV000351122]\|not provided [RCV004694310]	uncertain significance	17	28742407	28742407	Human	1	name
11622153	CV337743	single nucleotide variant	NM_178170.3(NEK8):c.*480G>A	Nephronophthisis 9 [RCV000356843]	uncertain significance	17	28742467	28742467	Human	1	name
11624081	CV343953	single nucleotide variant	NM_178170.3(NEK8):c.*338G>A	Nephronophthisis 9 [RCV000381359]	uncertain significance	17	28742325	28742325	Human	1	name
11616706	CV343957	single nucleotide variant	NM_178170.3(NEK8):c.*430C>A	Nephronophthisis 9 [RCV000297281]\|not provided [RCV004710809]	benign\|likely benign	17	28742417	28742417	Human	1	name
11652049	CV343958	single nucleotide variant	NM_178170.3(NEK8):c.*666C>T	Nephronophthisis 9 [RCV000302736]	uncertain significance	17	28742653	28742653	Human	1	name
11630430	CV345402	single nucleotide variant	NM_178170.3(NEK8):c.*381C>T	Nephronophthisis 9 [RCV000349907]	uncertain significance	17	28742368	28742368	Human	1	name
11632183	CV345410	single nucleotide variant	NM_178170.3(NEK8):c.*388C>T	Nephronophthisis 9 [RCV000399602]\|not provided [RCV004709585]	benign	17	28742375	28742375	Human	2	name
11632183	CV345410	single nucleotide variant	NM_178170.3(NEK8):c.*388C>T	Nephronophthisis 9 [RCV000399602]\|not provided [RCV004709585]	benign	17	28742375	28742376	Human	2	name
11650915	CV345413	single nucleotide variant	NM_178170.3(NEK8):c.*396G>A	Nephronophthisis 9 [RCV000295976]	uncertain significance	17	28742383	28742383	Human	1	name
11663717	CV345417	single nucleotide variant	NM_178170.3(NEK8):c.*421G>A	Nephronophthisis 9 [RCV000398749]	uncertain significance	17	28742408	28742408	Human	1	name
13511483	CV483116	single nucleotide variant	NM_178170.3(NEK8):c.47+1G>A	Renal-hepatic-pancreatic dysplasia 2 [RCV000582467]	pathogenic	17	28728861	28728861	Human	1	name
28905421	CV877108	single nucleotide variant	NM_178170.3(NEK8):c.*382G>A	Nephronophthisis 9 [RCV001126511]	uncertain significance	17	28742369	28742369	Human	1	name
28909158	CV877109	single nucleotide variant	NM_178170.3(NEK8):c.*474G>A	Nephronophthisis 9 [RCV001128572]	uncertain significance	17	28742461	28742461	Human	1	name
28909160	CV877110	single nucleotide variant	NM_178170.3(NEK8):c.*523C>T	Nephronophthisis 9 [RCV001128573]	uncertain significance	17	28742510	28742510	Human	1	name
28909161	CV877111	single nucleotide variant	NM_178170.3(NEK8):c.*526A>G	Nephronophthisis 9 [RCV001128574]	uncertain significance	17	28742513	28742513	Human	1	name
28909163	CV877112	single nucleotide variant	NM_178170.3(NEK8):c.*574A>C	Nephronophthisis 9 [RCV001128575]	uncertain significance	17	28742561	28742561	Human	1	name
28896538	CV877113	single nucleotide variant	NM_178170.3(NEK8):c.*575A>C	Nephronophthisis 9 [RCV001122880]	uncertain significance	17	28742562	28742562	Human	1	name
28896540	CV877114	single nucleotide variant	NM_178170.3(NEK8):c.*582C>A	Nephronophthisis 9 [RCV001122881]\|not provided [RCV004694763]	uncertain significance	17	28742569	28742569	Human	1	name
28896542	CV877115	single nucleotide variant	NM_178170.3(NEK8):c.*637C>G	Nephronophthisis 9 [RCV001122882]	benign	17	28742624	28742624	Human	1	name
28896544	CV877116	single nucleotide variant	NM_178170.3(NEK8):c.*759C>G	Nephronophthisis 9 [RCV001122883]	uncertain significance	17	28742746	28742746	Human	1	name
156397888	CV1880818	single nucleotide variant	NM_178170.3(NEK8):c.47+17G>A	Nephronophthisis 9 [RCV003068836]	likely benign	17	28728877	28728877	Human	1	name
243049520	CV2416907	single nucleotide variant	NM_178170.3(NEK8):c.618+9A>G	not specified [RCV003151579]	uncertain significance	17	28735380	28735380	Human		name
402502413	CV2898106	single nucleotide variant	NM_178170.3(NEK8):c.487-9A>G	Nephronophthisis 9 [RCV003494621]	likely benign	17	28735231	28735231	Human	1	name
402505429	CV2906457	single nucleotide variant	NM_178170.3(NEK8):c.828-4G>T	Nephronophthisis 9 [RCV003494916]	likely benign	17	28737671	28737671	Human	1	name
402512749	CV2913930	single nucleotide variant	NM_178170.3(NEK8):c.47+20G>T	Nephronophthisis 9 [RCV003495799]	likely benign	17	28728880	28728880	Human	1	name
405014989	CV3038822	single nucleotide variant	NM_178170.3(NEK8):c.253+7C>T	Nephronophthisis 9 [RCV003600213]	likely benign	17	28734195	28734195	Human	1	name
597760006	CV3712297	single nucleotide variant	NM_178170.3(NEK8):c.253+4G>A	Nephronophthisis 9 [RCV005018092]	uncertain significance	17	28734192	28734192	Human	1	name
597760011	CV3712298	single nucleotide variant	NM_178170.3(NEK8):c.253+5G>A	Nephronophthisis 9 [RCV005018093]	uncertain significance	17	28734193	28734193	Human	1	name
597760017	CV3712299	single nucleotide variant	NM_178170.3(NEK8):c.254-8G>A	Nephronophthisis 9 [RCV005018094]	uncertain significance	17	28734764	28734764	Human	1	name
597760136	CV3712317	single nucleotide variant	NM_178170.3(NEK8):c.889+7G>A	Nephronophthisis 9 [RCV005018115]	uncertain significance	17	28737743	28737743	Human	1	name
597936053	CV3764772	single nucleotide variant	NM_178170.3(NEK8):c.254-7G>A	Nephronophthisis 9 [RCV005117471]	likely benign	17	28734765	28734765	Human	1	name
13621682	CV530653	single nucleotide variant	NM_178170.3(NEK8):c.889+1G>T	Nephronophthisis 9 [RCV000648812]\|Nephronophthisis 9 [RCV005004296]	likely pathogenic	17	28737737	28737737	Human	1	name
13621683	CV530910	deletion	NM_178170.3(NEK8):c.889+2del	Nephronophthisis 9 [RCV000648813]	likely pathogenic	17	28737738	28737738	Human	1	name
26915381	CV851697	single nucleotide variant	NM_178170.3(NEK8):c.828-1G>C	Nephronophthisis 9 [RCV001041320]	likely pathogenic	17	28737674	28737674	Human	1	name
28898960	CV880491	single nucleotide variant	NM_178170.3(NEK8):c.48-10G>A	Nephronophthisis 9 [RCV001123770]	conflicting interpretations of pathogenicity\|uncertain significance	17	28733973	28733973	Human	1	name
150487141	CV1203413	deletion	NM_178170.3(NEK8):c.254-73del	not provided [RCV001591591]	likely benign	17	28734699	28734699	Human		name
150475508	CV1263512	single nucleotide variant	NM_178170.3(NEK8):c.47+147C>A	not provided [RCV001685035]	benign	17	28729007	28729007	Human		name
150445154	CV1269389	single nucleotide variant	NM_178170.3(NEK8):c.253+65G>A	not provided [RCV001691076]	benign	17	28734253	28734253	Human		name
150437791	CV1286603	single nucleotide variant	NM_178170.3(NEK8):c.47+148C>T	not provided [RCV001724682]	benign	17	28729008	28729008	Human		name
150543032	CV1315062	single nucleotide variant	NM_178170.3(NEK8):c.1072-2A>G	not provided [RCV001782517]	likely pathogenic	17	28738093	28738093	Human		name
151351276	CV1323806	single nucleotide variant	NM_178170.3(NEK8):c.619-38C>T	not provided [RCV001810352]	likely benign	17	28737268	28737268	Human		name
151822740	CV1351307	single nucleotide variant	NM_178170.3(NEK8):c.2050+3G>A	Nephronophthisis 9 [RCV001992942]	uncertain significance	17	28741574	28741574	Human	1	name
152138294	CV1563508	single nucleotide variant	NM_178170.3(NEK8):c.889+18G>A	Nephronophthisis 9 [RCV002200246]\|Nephronophthisis 9 [RCV002479869]	likely benign	17	28737754	28737754	Human	1	name
152105113	CV1574916	single nucleotide variant	NM_178170.3(NEK8):c.889+17C>T	Nephronophthisis 9 [RCV002096052]\|Nephronophthisis 9 [RCV002494207]	likely benign	17	28737753	28737753	Human	1	name
152164526	CV1625388	single nucleotide variant	NM_178170.3(NEK8):c.827+20G>A	Nephronophthisis 9 [RCV002160266]	likely benign	17	28737534	28737534	Human	1	name
156321140	CV2123796	single nucleotide variant	NM_178170.3(NEK8):c.486+11A>G	Nephronophthisis 9 [RCV002963206]	likely benign	17	28735015	28735015	Human	1	name
401936472	CV2803452	single nucleotide variant	NM_178170.3(NEK8):c.1568+2T>C	NEK8-related disorder [RCV003414413]	likely pathogenic	17	28740615	28740615	Human		name , trait , alternate_id
401905495	CV2831399	single nucleotide variant	NM_178170.3(NEK8):c.1891+1G>A	Renal-hepatic-pancreatic dysplasia 2 [RCV003444390]	uncertain significance	17	28741237	28741237	Human	1	name
402520458	CV2871920	single nucleotide variant	NM_178170.3(NEK8):c.827+18G>A	Nephronophthisis 9 [RCV003496427]	likely benign	17	28737532	28737532	Human	1	name
402504769	CV2905760	single nucleotide variant	NM_178170.3(NEK8):c.253+11C>T	Nephronophthisis 9 [RCV003494811]	likely benign	17	28734199	28734199	Human	1	name
402506458	CV2907273	single nucleotide variant	NM_178170.3(NEK8):c.889+15G>A	Nephronophthisis 9 [RCV003495025]	likely benign	17	28737751	28737751	Human	1	name
405040289	CV3007210	single nucleotide variant	NM_178170.3(NEK8):c.1418-2A>C	Nephronophthisis 9 [RCV003602515]	likely pathogenic	17	28740461	28740461	Human	1	name
405015727	CV3053041	single nucleotide variant	NM_178170.3(NEK8):c.254-12C>T	Nephronophthisis 9 [RCV003600292]	likely benign	17	28734760	28734760	Human	1	name
405025380	CV3069189	single nucleotide variant	NM_178170.3(NEK8):c.486+17G>T	Nephronophthisis 9 [RCV003601202]	likely benign	17	28735021	28735021	Human	1	name
405202108	CV3165039	single nucleotide variant	NM_178170.3(NEK8):c.890-20C>A	Nephronophthisis 9 [RCV003860900]	likely benign	17	28737799	28737799	Human	1	name
11624716	CV337719	single nucleotide variant	NM_178170.3(NEK8):c.618+12C>T	Nephronophthisis 9 [RCV000389932]	conflicting interpretations of pathogenicity\|uncertain significance	17	28735383	28735383	Human	1	name
408365701	CV3509085	single nucleotide variant	NM_178170.3(NEK8):c.1071+1G>A	NEK8-related disorder [RCV004755189]	likely pathogenic	17	28738001	28738001	Human		name , trait , alternate_id
596925173	CV3541865	single nucleotide variant	NM_178170.3(NEK8):c.1418-1G>A	Nephronophthisis 9 [RCV004795578]\|Nephronophthisis 9 [RCV005105127]	pathogenic\|likely pathogenic	17	28740462	28740462	Human	1	name
597760517	CV3712358	single nucleotide variant	NM_178170.3(NEK8):c.2050+1G>A	Nephronophthisis 9 [RCV005018158]	uncertain significance	17	28741572	28741572	Human	1	name
597975845	CV3832797	single nucleotide variant	NM_178170.3(NEK8):c.828-16C>A	Nephronophthisis 9 [RCV005169356]	likely benign	17	28737659	28737659	Human	1	name
598227470	CV3895982	single nucleotide variant	NM_178170.3(NEK8):c.1417+1G>C	Nephronophthisis 9 [RCV005362245]	likely pathogenic	17	28739202	28739202	Human	1	name
13621681	CV530659	single nucleotide variant	NM_178170.3(NEK8):c.1299+3G>T	NEK8-related disorder [RCV003945642]\|Nephronophthisis 9 [RCV000648811]\|Nephronophthisis 9 [RCV002493034]	likely benign\|uncertain significance	17	28738750	28738750	Human	2	name , trait , alternate_id
150409088	CV1178131	duplication	NM_178170.3(NEK8):c.254-238dup	not provided [RCV001546123]	likely benign	17	28734519	28734520	Human		name
150489202	CV1208389	single nucleotide variant	NM_178170.3(NEK8):c.1891+58G>C	not provided [RCV001592249]	likely benign	17	28741294	28741294	Human		name
150492207	CV1225430	deletion	NM_178170.3(NEK8):c.254-238del	not provided [RCV001618945]	benign	17	28734520	28734520	Human		name
150443691	CV1264630	single nucleotide variant	NM_178170.3(NEK8):c.254-159G>A	not provided [RCV001679614]	benign	17	28734613	28734613	Human		name
150458993	CV1269727	single nucleotide variant	NM_178170.3(NEK8):c.254-204C>T	not provided [RCV001693267]	benign	17	28734568	28734568	Human		name
152111441	CV1539876	single nucleotide variant	NM_178170.3(NEK8):c.1071+13G>C	Nephronophthisis 9 [RCV002153107]\|Nephronophthisis 9 [RCV002486959]	likely benign	17	28738013	28738013	Human	1	name
152064496	CV1652329	single nucleotide variant	NM_178170.3(NEK8):c.1732+19C>A	Nephronophthisis 9 [RCV002090701]	benign	17	28741004	28741004	Human	1	name
156214556	CV1910491	single nucleotide variant	NM_178170.3(NEK8):c.1732+13T>G	Nephronophthisis 9 [RCV002596206]	likely benign	17	28740998	28740998	Human	1	name
156346010	CV1970528	single nucleotide variant	NM_178170.3(NEK8):c.1071+17G>T	Nephronophthisis 9 [RCV002601528]	likely benign	17	28738017	28738017	Human	1	name
156380383	CV2117938	single nucleotide variant	NM_178170.3(NEK8):c.1072-16C>A	Nephronophthisis 9 [RCV002943094]	likely benign	17	28738079	28738079	Human	1	name
156358036	CV2126218	single nucleotide variant	NM_178170.3(NEK8):c.1568+14C>T	Nephronophthisis 9 [RCV002966797]	likely benign	17	28740627	28740627	Human	1	name
156030726	CV2156389	single nucleotide variant	NM_178170.3(NEK8):c.1892-20C>T	Nephronophthisis 9 [RCV003018663]	likely benign	17	28741393	28741393	Human	1	name
156145834	CV2160505	single nucleotide variant	NM_178170.3(NEK8):c.1222+11G>C	Nephronophthisis 9 [RCV003022682]	likely benign	17	28738256	28738256	Human	1	name
402525339	CV2933686	single nucleotide variant	NM_178170.3(NEK8):c.2050+20A>G	Nephronophthisis 9 [RCV003496810]	likely benign	17	28741591	28741591	Human	1	name
405016255	CV3047025	single nucleotide variant	NM_178170.3(NEK8):c.1223-20C>T	Nephronophthisis 9 [RCV003600344]	likely benign	17	28738651	28738651	Human	1	name
405024061	CV3057405	single nucleotide variant	NM_178170.3(NEK8):c.2050+19C>G	Nephronophthisis 9 [RCV003601076]	likely benign	17	28741590	28741590	Human	1	name
405025319	CV3072967	deletion	NM_178170.3(NEK8):c.1071+12del	Nephronophthisis 9 [RCV003601300]	likely benign	17	28738012	28738012	Human	1	name
405238590	CV3165464	single nucleotide variant	NM_178170.3(NEK8):c.1222+12G>A	Nephronophthisis 9 [RCV003866666]	likely benign	17	28738257	28738257	Human	1	name
405289239	CV3205005	single nucleotide variant	NM_178170.3(NEK8):c.1222+10C>T	NEK8-related disorder [RCV003961631]	likely benign	17	28738255	28738255	Human		name , trait , alternate_id
597851886	CV3746981	single nucleotide variant	NM_178170.3(NEK8):c.2051-13C>T	Nephronophthisis 9 [RCV005060609]	likely benign	17	28741946	28741946	Human	1	name
597924403	CV3748485	single nucleotide variant	NM_178170.3(NEK8):c.1071+14G>A	Nephronophthisis 9 [RCV005075132]	likely benign	17	28738014	28738014	Human	1	name
597954409	CV3808841	single nucleotide variant	NM_178170.3(NEK8):c.1891+10G>A	Nephronophthisis 9 [RCV005161759]	likely benign	17	28741246	28741246	Human	1	name
597932477	CV3838035	single nucleotide variant	NM_178170.3(NEK8):c.1733-14C>T	Nephronophthisis 9 [RCV005186004]	likely benign	17	28741064	28741064	Human	1	name
597900538	CV3855033	single nucleotide variant	NM_178170.3(NEK8):c.1417+15T>C	Nephronophthisis 9 [RCV005201942]	likely benign	17	28739216	28739216	Human	1	name
28908996	CV880492	single nucleotide variant	NM_178170.3(NEK8):c.1300-13C>A	Nephronophthisis 9 [RCV001128478]	uncertain significance	17	28739071	28739071	Human	1	name
597760078	CV3712308	duplication	NM_178170.3(NEK8):c.618_618+7dup	Nephronophthisis 9 [RCV005018105]	uncertain significance	17	28735370	28735371	Human	1	name
597760190	CV3712326	microsatellite	NM_178170.3(NEK8):c.1224_1227del	Nephronophthisis 9 [RCV005018125]	likely pathogenic	17	28738668	28738671	Human		name
12886898	CV401591	single nucleotide variant	NM_178170.3(NEK8):c.9G>A (p.Lys3=)	NEK8-related disorder [RCV003942530]\|Nephronophthisis 9 [RCV001428625]\|Nephronophthisis 9 [RCV005018789]	likely benign	17	28728822	28728822	Human	3	name , trait , alternate_id
597904773	CV3846205	single nucleotide variant	NM_178170.3(NEK8):c.12C>T (p.Tyr4=)	Nephronophthisis 9 [RCV005181828]	likely benign	17	28728825	28728825	Human	1	name
405012405	CV3022736	single nucleotide variant	NM_178170.3(NEK8):c.57C>T (p.His19=)	Nephronophthisis 9 [RCV003599985]\|not provided [RCV004763752]	likely benign\|uncertain significance	17	28733992	28733992	Human	1	name
597944165	CV3812468	single nucleotide variant	NM_178170.3(NEK8):c.54G>A (p.Val18=)	Nephronophthisis 9 [RCV005159678]	likely benign	17	28733989	28733989	Human	1	name
156419262	CV1923136	deletion	NM_178170.3(NEK8):c.1891+9_1891+10del	Nephronophthisis 9 [RCV002612485]	likely benign	17	28741245	28741246	Human	1	name
156255814	CV2025929	single nucleotide variant	NM_178170.3(NEK8):c.255C>T (p.Gly85=)	Nephronophthisis 9 [RCV002746143]	likely benign	17	28734773	28734773	Human	1	name
155988473	CV2101849	single nucleotide variant	NM_178170.3(NEK8):c.198C>T (p.Tyr66=)	Nephronophthisis 9 [RCV002908042]	likely benign	17	28734133	28734133	Human	1	name
156390744	CV2122477	single nucleotide variant	NM_178170.3(NEK8):c.234C>T (p.Ile78=)	Nephronophthisis 9 [RCV002943879]	likely benign	17	28734169	28734169	Human	1	name
11346895	CV242617	microsatellite	NM_178170.3(NEK8):c.1732+8_1732+10del	Kidney disorder [RCV002294092]\|Nephronophthisis 9 [RCV000230177]\|Nephronophthisis 9 [RCV002500825]\|Nephronophthisis [RCV000260096]	likely pathogenic\|benign\|likely benign	17	28740988	28740990	Human		name
401754170	CV2715663	single nucleotide variant	NM_178170.3(NEK8):c.23G>A (p.Arg8Gln)	Inborn genetic diseases [RCV003277941]	uncertain significance	17	28728836	28728836	Human	1	name
11638224	CV274240	single nucleotide variant	NM_178170.3(NEK8):c.294C>G (p.Ser98=)	Nephronophthisis 9 [RCV002059279]\|not provided [RCV000298045]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	28734812	28734812	Human	1	name
402476578	CV3173826	single nucleotide variant	NM_178170.3(NEK8):c.225C>T (p.Ala75=)	Nephronophthisis 9 [RCV003875364]	likely benign	17	28734160	28734160	Human	1	name
597721994	CV3555967	single nucleotide variant	NM_178170.3(NEK8):c.25G>C (p.Val9Leu)	Inborn genetic diseases [RCV004961611]	uncertain significance	17	28728838	28728838	Human	1	name
38468380	CV937759	single nucleotide variant	NM_178170.3(NEK8):c.22C>G (p.Arg8Gly)	Inborn genetic diseases [RCV004960553]\|Nephronophthisis 9 [RCV001213128]\|Nephronophthisis 9 [RCV005005081]	uncertain significance	17	28728835	28728835	Human	2	name
126731261	CV1021615	single nucleotide variant	NM_178170.3(NEK8):c.972C>G (p.Pro324=)	Nephronophthisis 9 [RCV002546645]\|Renal-hepatic-pancreatic dysplasia 2 [RCV001333669]	likely benign\|uncertain significance	17	28737901	28737901	Human	2	name
127332614	CV1146938	single nucleotide variant	NM_178170.3(NEK8):c.444C>T (p.Phe148=)	Nephronophthisis 9 [RCV001489608]	likely benign	17	28734962	28734962	Human	1	name
127302082	CV1146939	single nucleotide variant	NM_178170.3(NEK8):c.579C>T (p.Leu193=)	Nephronophthisis 9 [RCV001499011]	likely benign	17	28735332	28735332	Human	1	name
152026459	CV1594563	single nucleotide variant	NM_178170.3(NEK8):c.984A>G (p.Pro328=)	Nephronophthisis 9 [RCV002104564]	likely benign	17	28737913	28737913	Human	1	name
155645558	CV1710909	single nucleotide variant	NM_178170.3(NEK8):c.453C>T (p.Ser151=)	Kidney disorder [RCV002294690]	uncertain significance	17	28734971	28734971	Human	2	name
156010351	CV1880360	single nucleotide variant	NM_178170.3(NEK8):c.312C>A (p.Thr104=)	Nephronophthisis 9 [RCV003077052]	likely benign	17	28734830	28734830	Human	1	name
156294051	CV2009925	single nucleotide variant	NM_178170.3(NEK8):c.609C>T (p.Phe203=)	Nephronophthisis 9 [RCV002715769]	likely benign	17	28735362	28735362	Human	1	name
156193980	CV2099119	single nucleotide variant	NM_178170.3(NEK8):c.300G>A (p.Leu100=)	Nephronophthisis 9 [RCV002917544]\|Nephronophthisis 9 [RCV005019443]	uncertain significance	17	28734818	28734818	Human	1	name
155960888	CV2144249	single nucleotide variant	NM_178170.3(NEK8):c.768C>G (p.Pro256=)	Nephronophthisis 9 [RCV003015460]	likely benign	17	28737455	28737455	Human	1	name
156359444	CV2184003	single nucleotide variant	NM_178170.3(NEK8):c.906T>C (p.Pro302=)	Nephronophthisis 9 [RCV003048916]	likely benign	17	28737835	28737835	Human	1	name
155978711	CV2222730	single nucleotide variant	NM_178170.3(NEK8):c.59T>C (p.Leu20Pro)	Inborn genetic diseases [RCV002732269]	uncertain significance	17	28733994	28733994	Human	1	name
156233927	CV2271045	single nucleotide variant	NM_178170.3(NEK8):c.41C>T (p.Ala14Val)	Inborn genetic diseases [RCV002853817]\|Nephronophthisis 9 [RCV005059302]	uncertain significance	17	28728854	28728854	Human	2	name
155919003	CV2279335	single nucleotide variant	NM_178170.3(NEK8):c.71A>T (p.Lys24Met)	Inborn genetic diseases [RCV002859392]	uncertain significance	17	28734006	28734006	Human	1	name
243051518	CV2415886	single nucleotide variant	NM_178170.3(NEK8):c.37G>A (p.Gly13Ser)	Renal-hepatic-pancreatic dysplasia 2 [RCV003148504]	uncertain significance	17	28728850	28728850	Human	1	name
329848504	CV2523183	single nucleotide variant	NM_178170.3(NEK8):c.618G>A (p.Ala206=)	NEK8-related disorder [RCV003900988]\|Renal-hepatic-pancreatic dysplasia 2 [RCV003224943]	likely pathogenic\|likely benign	17	28735371	28735371	Human	1	name , trait , alternate_id
402504781	CV2905759	single nucleotide variant	NM_178170.3(NEK8):c.912G>A (p.Arg304=)	Nephronophthisis 9 [RCV003494810]	likely benign	17	28737841	28737841	Human	1	name
405026925	CV2971051	single nucleotide variant	NM_178170.3(NEK8):c.624G>A (p.Leu208=)	Nephronophthisis 9 [RCV003601436]	likely benign	17	28737311	28737311	Human	1	name
402503177	CV3170995	single nucleotide variant	NM_178170.3(NEK8):c.750C>T (p.Ser250=)	Nephronophthisis 9 [RCV003878182]	likely benign	17	28737437	28737437	Human	1	name
11620887	CV327902	single nucleotide variant	NM_178170.3(NEK8):c.582C>T (p.Tyr194=)	Nephronophthisis 9 [RCV000342342]	conflicting interpretations of pathogenicity\|uncertain significance	17	28735335	28735335	Human	1	name
405808736	CV3353329	single nucleotide variant	NM_178170.3(NEK8):c.44T>C (p.Phe15Ser)	Inborn genetic diseases [RCV004481355]	uncertain significance	17	28728857	28728857	Human	1	name
405853951	CV3395358	single nucleotide variant	NM_178170.3(NEK8):c.91A>G (p.Ile31Val)	Nephronophthisis 9 [RCV005015184]\|Renal-hepatic-pancreatic dysplasia 2 [RCV004555495]	uncertain significance	17	28734026	28734026	Human	2	name
408389136	CV3522923	single nucleotide variant	NM_178170.3(NEK8):c.34A>G (p.Arg12Gly)	not provided [RCV004769304]	uncertain significance	17	28728847	28728847	Human		name
408389541	CV3524606	deletion	NM_178170.3(NEK8):c.211del (p.Leu71fs)	not provided [RCV004769501]	likely pathogenic	17	28734145	28734145	Human		name
596925462	CV3542090	single nucleotide variant	NM_178170.3(NEK8):c.486G>A (p.Thr162=)	Nephronophthisis 9 [RCV004795806]	uncertain significance	17	28735004	28735004	Human	1	name
597721686	CV3555960	single nucleotide variant	NM_178170.3(NEK8):c.62G>A (p.Cys21Tyr)	Inborn genetic diseases [RCV004961605]	uncertain significance	17	28733997	28733997	Human	1	name
597760392	CV3712293	single nucleotide variant	NM_178170.3(NEK8):c.88G>A (p.Val30Met)	Nephronophthisis 9 [RCV005018087]	uncertain significance	17	28734023	28734023	Human	1	name
597891946	CV3763073	single nucleotide variant	NM_178170.3(NEK8):c.826A>C (p.Arg276=)	Nephronophthisis 9 [RCV005110846]	uncertain significance	17	28737513	28737513	Human	1	name
597918164	CV3811010	single nucleotide variant	NM_178170.3(NEK8):c.735G>A (p.Gln245=)	Nephronophthisis 9 [RCV005155045]	likely benign	17	28737422	28737422	Human	1	name
597932296	CV3838005	single nucleotide variant	NM_178170.3(NEK8):c.840C>T (p.Ser280=)	Nephronophthisis 9 [RCV005185974]	likely benign	17	28737687	28737687	Human	1	name
597926688	CV3855405	single nucleotide variant	NM_178170.3(NEK8):c.942G>A (p.Val314=)	Nephronophthisis 9 [RCV005206004]	likely benign	17	28737871	28737871	Human	1	name
598254390	CV3990726	single nucleotide variant	NM_178170.3(NEK8):c.67C>T (p.Arg23Ter)	Inborn genetic diseases [RCV005385494]	pathogenic	17	28734002	28734002	Human	1	name
13521429	CV495824	deletion	NM_178170.3(NEK8):c.238del (p.Met80fs)	not provided [RCV000599446]	pathogenic	17	28734173	28734173	Human		name
13621685	CV530813	single nucleotide variant	NM_178170.3(NEK8):c.339G>C (p.Leu113=)	Nephronophthisis 9 [RCV000648815]	likely benign	17	28734857	28734857	Human	1	name
14693581	CV620577	deletion	NM_178170.3(NEK8):c.141del (p.Ala48fs)	Nephronophthisis 9 [RCV000779210]	uncertain significance	17	28734076	28734076	Human		name
15123245	CV684666	single nucleotide variant	NM_178170.3(NEK8):c.435C>T (p.Ile145=)	Nephronophthisis 9 [RCV000862204]	likely benign	17	28734953	28734953	Human	1	name
15155158	CV688751	single nucleotide variant	NM_178170.3(NEK8):c.936G>A (p.Ser312=)	NEK8-related disorder [RCV003965720]\|Nephronophthisis 9 [RCV001439831]\|Nephronophthisis 9 [RCV002478975]\|not provided [RCV004808916]	likely benign	17	28737865	28737865	Human	2	name , trait , alternate_id
15126523	CV694060	single nucleotide variant	NM_178170.3(NEK8):c.316C>T (p.Leu106=)	not provided [RCV000875144]	likely benign	17	28734834	28734834	Human		name
15114672	CV694061	single nucleotide variant	NM_178170.3(NEK8):c.804C>T (p.Asp268=)	not provided [RCV000873001]	likely benign	17	28737491	28737491	Human		name
15161580	CV727084	single nucleotide variant	NM_178170.3(NEK8):c.744A>G (p.Pro248=)	not provided [RCV000881596]	likely benign	17	28737431	28737431	Human		name
15158298	CV755728	single nucleotide variant	NM_178170.3(NEK8):c.807G>C (p.Val269=)	not provided [RCV000925040]	likely benign	17	28737494	28737494	Human		name
26907080	CV844837	single nucleotide variant	NM_178170.3(NEK8):c.654C>T (p.Gly218=)	Nephronophthisis 9 [RCV001037781]	likely benign\|uncertain significance	17	28737341	28737341	Human	1	name
28898965	CV877092	single nucleotide variant	NM_178170.3(NEK8):c.666T>C (p.Pro222=)	Nephronophthisis 9 [RCV001123771]	uncertain significance	17	28737353	28737353	Human	1	name
28898967	CV877093	single nucleotide variant	NM_178170.3(NEK8):c.801C>T (p.Thr267=)	Nephronophthisis 9 [RCV001123772]\|Nephronophthisis 9 [RCV005021466]\|not provided [RCV003992449]	uncertain significance	17	28737488	28737488	Human	1	name
127233354	CV1104615	single nucleotide variant	NM_178170.3(NEK8):c.1485G>A (p.Gln495=)	Nephronophthisis 9 [RCV001421736]	likely benign	17	28740530	28740530	Human	1	name
127241122	CV1104616	single nucleotide variant	NM_178170.3(NEK8):c.1956C>A (p.Ala652=)	Nephronophthisis 9 [RCV001423505]	likely benign	17	28741477	28741477	Human	1	name
127261453	CV1104617	single nucleotide variant	NM_178170.3(NEK8):c.2073C>G (p.Pro691=)	Nephronophthisis 9 [RCV001438773]	likely benign	17	28741981	28741981	Human	1	name
127319544	CV1146940	single nucleotide variant	NM_178170.3(NEK8):c.1092C>T (p.Gly364=)	Nephronophthisis 9 [RCV001504058]\|Nephronophthisis 9 [RCV002501730]	likely benign	17	28738115	28738115	Human	1	name
150551660	CV1297496	single nucleotide variant	NM_178170.3(NEK8):c.145C>G (p.Gln49Glu)	Polycystic kidney disease 8 [RCV005253879]\|not provided [RCV001767180]	uncertain significance	17	28734080	28734080	Human	1	name
150540995	CV1298630	single nucleotide variant	NM_178170.3(NEK8):c.185A>G (p.Asn62Ser)	not provided [RCV001760778]	uncertain significance	17	28734120	28734120	Human		name
151887594	CV1341467	single nucleotide variant	NM_178170.3(NEK8):c.1158G>A (p.Glu386=)	Nephronophthisis 9 [RCV001887792]	likely benign\|uncertain significance	17	28738181	28738181	Human	1	name
151747572	CV1362347	single nucleotide variant	NM_178170.3(NEK8):c.186T>A (p.Asn62Lys)	Nephronophthisis 9 [RCV001968818]	uncertain significance	17	28734121	28734121	Human	1	name
151715508	CV1385412	single nucleotide variant	NM_178170.3(NEK8):c.269A>G (p.Glu90Gly)	Nephronophthisis 9 [RCV002002851]\|Nephronophthisis 9 [RCV002484868]	uncertain significance	17	28734787	28734787	Human	1	name
152109929	CV1536891	single nucleotide variant	NM_178170.3(NEK8):c.1773A>G (p.Gly591=)	Nephronophthisis 9 [RCV002215339]	likely benign	17	28741118	28741118	Human	1	name
152031620	CV1548776	single nucleotide variant	NM_178170.3(NEK8):c.1035C>T (p.Ala345=)	Nephronophthisis 9 [RCV002086411]\|Nephronophthisis 9 [RCV002494350]	likely benign	17	28737964	28737964	Human	1	name
155950656	CV1879233	single nucleotide variant	NM_178170.3(NEK8):c.1701C>T (p.Asp567=)	Nephronophthisis 9 [RCV003074132]	likely benign	17	28740954	28740954	Human	1	name
156391151	CV1879524	single nucleotide variant	NM_178170.3(NEK8):c.1086T>A (p.Gly362=)	Nephronophthisis 9 [RCV003068038]	likely benign	17	28738109	28738109	Human	1	name
10050314	CV191732	single nucleotide variant	NM_178170.3(NEK8):c.2052G>A (p.Ser684=)	Nephronophthisis 9 [RCV000205980]\|not provided [RCV001682885]\|not specified [RCV000174959]	benign\|likely benign\|uncertain significance	17	28741960	28741960	Human	1	name
156419257	CV1923124	single nucleotide variant	NM_178170.3(NEK8):c.284G>A (p.Arg95His)	Nephronophthisis 9 [RCV002612480]	uncertain significance	17	28734802	28734802	Human	1	name
156296233	CV1923207	single nucleotide variant	NM_178170.3(NEK8):c.1044G>A (p.Thr348=)	Nephronophthisis 9 [RCV002647416]	likely benign	17	28737973	28737973	Human	1	name
156442223	CV1938134	single nucleotide variant	NM_178170.3(NEK8):c.1593C>T (p.His531=)	Nephronophthisis 9 [RCV003112562]	likely benign	17	28740846	28740846	Human	1	name
156448979	CV1944229	single nucleotide variant	NM_178170.3(NEK8):c.287G>T (p.Cys96Phe)	Nephronophthisis 9 [RCV003121088]	uncertain significance	17	28734805	28734805	Human	1	name
156286905	CV1964636	single nucleotide variant	NM_178170.3(NEK8):c.1965T>G (p.Pro655=)	Nephronophthisis 9 [RCV002577672]	likely benign	17	28741486	28741486	Human	1	name
156160575	CV1977780	single nucleotide variant	NM_178170.3(NEK8):c.1710T>C (p.Thr570=)	Nephronophthisis 9 [RCV002594453]	likely benign	17	28740963	28740963	Human	1	name
156112497	CV2093011	single nucleotide variant	NM_178170.3(NEK8):c.248C>T (p.Ala83Val)	Nephronophthisis 9 [RCV002913838]	uncertain significance	17	28734183	28734183	Human	1	name
156321148	CV2123797	single nucleotide variant	NM_178170.3(NEK8):c.1923G>A (p.Ala641=)	Nephronophthisis 9 [RCV002963207]	likely benign	17	28741444	28741444	Human	1	name
11550383	CV256108	single nucleotide variant	NM_178170.3(NEK8):c.1170T>C (p.Gly390=)	Nephronophthisis 9 [RCV000860396]\|Renal-hepatic-pancreatic dysplasia 2 [RCV001782748]\|not provided [RCV001636834]\|not specified [RCV000251686]	benign	17	28738193	28738193	Human	2	name
11544962	CV256109	single nucleotide variant	NM_178170.3(NEK8):c.1770C>T (p.His590=)	Nephronophthisis 9 [RCV000863313]\|not specified [RCV000244496]	benign\|likely benign	17	28741115	28741115	Human	1	name
401903860	CV2811179	single nucleotide variant	NM_178170.3(NEK8):c.1777T>C (p.Leu593=)	Nephronophthisis 9 [RCV005062934]\|not provided [RCV003419690]	likely benign	17	28741122	28741122	Human	1	name
402510032	CV2854903	single nucleotide variant	NM_178170.3(NEK8):c.286T>C (p.Cys96Arg)	Nephronophthisis 9 [RCV003495541]	likely benign	17	28734804	28734804	Human	1	name
402520886	CV2868374	single nucleotide variant	NM_178170.3(NEK8):c.1893G>A (p.Glu631=)	Nephronophthisis 9 [RCV003496436]	likely benign	17	28741414	28741414	Human	1	name
402522303	CV2879956	single nucleotide variant	NM_178170.3(NEK8):c.1512C>T (p.Ile504=)	Nephronophthisis 9 [RCV003496536]	likely benign	17	28740557	28740557	Human	1	name
402514391	CV2921095	single nucleotide variant	NM_178170.3(NEK8):c.1245C>T (p.Phe415=)	Nephronophthisis 9 [RCV003495916]	likely benign	17	28738693	28738693	Human	1	name
402525217	CV2924256	single nucleotide variant	NM_178170.3(NEK8):c.1653A>C (p.Thr551=)	Nephronophthisis 9 [RCV003496800]	likely benign	17	28740906	28740906	Human	1	name
405021368	CV3045007	single nucleotide variant	NM_178170.3(NEK8):c.1038C>T (p.Gly346=)	Nephronophthisis 9 [RCV003600932]	likely benign	17	28737967	28737967	Human	1	name
405188221	CV3149243	single nucleotide variant	NM_178170.3(NEK8):c.1905C>T (p.Tyr635=)	Nephronophthisis 9 [RCV003843169]	likely benign	17	28741426	28741426	Human	1	name
405237809	CV3165384	single nucleotide variant	NM_178170.3(NEK8):c.1368G>A (p.Leu456=)	Nephronophthisis 9 [RCV003866586]	likely benign	17	28739152	28739152	Human	1	name
405268278	CV3219602	single nucleotide variant	NM_178170.3(NEK8):c.1902G>A (p.Val634=)	NEK8-related disorder [RCV003969806]	likely benign	17	28741423	28741423	Human		name , trait , alternate_id
405744887	CV3226165	single nucleotide variant	NM_178170.3(NEK8):c.142G>C (p.Ala48Pro)	Renal-hepatic-pancreatic dysplasia 2 [RCV003991156]	uncertain significance	17	28734077	28734077	Human	1	name
11621960	CV327910	single nucleotide variant	NM_178170.3(NEK8):c.1641C>T (p.Ala547=)	Nephronophthisis 9 [RCV000648816]\|not provided [RCV004709584]	benign\|uncertain significance	17	28740894	28740894	Human	1	name
405808639	CV3353256	single nucleotide variant	NM_178170.3(NEK8):c.131A>T (p.Glu44Val)	Inborn genetic diseases [RCV004481282]\|Nephronophthisis 9 [RCV005015158]	uncertain significance	17	28734066	28734066	Human	2	name
405808863	CV3353296	single nucleotide variant	NM_178170.3(NEK8):c.196T>G (p.Tyr66Asp)	Inborn genetic diseases [RCV004481322]	uncertain significance	17	28734131	28734131	Human	1	name
405852325	CV3395918	single nucleotide variant	NM_178170.3(NEK8):c.127G>A (p.Glu43Lys)	Renal-hepatic-pancreatic dysplasia 2 [RCV004556937]	uncertain significance	17	28734062	28734062	Human	1	name
11618378	CV343950	single nucleotide variant	NM_178170.3(NEK8):c.1251C>T (p.Ser417=)	Nephronophthisis 9 [RCV000313424]\|not provided [RCV004694309]	conflicting interpretations of pathogenicity\|uncertain significance	17	28738699	28738699	Human	1	name
11631312	CV345400	single nucleotide variant	NM_178170.3(NEK8):c.1938A>C (p.Gly646=)	Nephronophthisis 9 [RCV000551764]\|not provided [RCV005425931]	benign\|likely benign\|uncertain significance	17	28741459	28741459	Human	1	name
597627642	CV3555965	single nucleotide variant	NM_178170.3(NEK8):c.241G>A (p.Glu81Lys)	Inborn genetic diseases [RCV004961609]\|Nephronophthisis 9 [RCV005017299]	uncertain significance	17	28734176	28734176	Human	2	name
597760381	CV3712294	single nucleotide variant	NM_178170.3(NEK8):c.106C>G (p.Pro36Ala)	Nephronophthisis 9 [RCV005018089]	uncertain significance	17	28734041	28734041	Human	1	name
597760376	CV3712295	single nucleotide variant	NM_178170.3(NEK8):c.181C>G (p.Pro61Ala)	Nephronophthisis 9 [RCV005018090]	uncertain significance	17	28734116	28734116	Human	1	name
597760185	CV3712296	single nucleotide variant	NM_178170.3(NEK8):c.202G>A (p.Glu68Lys)	Nephronophthisis 9 [RCV005018091]	uncertain significance	17	28734137	28734137	Human	1	name
597760022	CV3712300	single nucleotide variant	NM_178170.3(NEK8):c.274A>T (p.Ile92Phe)	Nephronophthisis 9 [RCV005018095]	uncertain significance	17	28734792	28734792	Human	1	name
597760034	CV3712301	single nucleotide variant	NM_178170.3(NEK8):c.280A>C (p.Lys94Gln)	Nephronophthisis 9 [RCV005018097]	uncertain significance	17	28734798	28734798	Human	1	name
597760173	CV3712323	single nucleotide variant	NM_178170.3(NEK8):c.1071G>A (p.Glu357=)	Nephronophthisis 9 [RCV005018122]	uncertain significance	17	28738000	28738000	Human	1	name
597760282	CV3712343	single nucleotide variant	NM_178170.3(NEK8):c.1737G>A (p.Ser579=)	Nephronophthisis 9 [RCV005018142]	uncertain significance	17	28741082	28741082	Human	1	name
597975941	CV3796026	single nucleotide variant	NM_178170.3(NEK8):c.1203C>T (p.Phe401=)	Nephronophthisis 9 [RCV005144857]	likely benign	17	28738226	28738226	Human	1	name
597974150	CV3801772	single nucleotide variant	NM_178170.3(NEK8):c.134G>A (p.Arg45Gln)	Nephronophthisis 9 [RCV005143761]	uncertain significance	17	28734069	28734069	Human	1	name
597970610	CV3802021	single nucleotide variant	NM_178170.3(NEK8):c.1146G>T (p.Ser382=)	Nephronophthisis 9 [RCV005141813]	likely benign	17	28738169	28738169	Human	1	name
597931708	CV3837908	single nucleotide variant	NM_178170.3(NEK8):c.1818G>A (p.Lys606=)	Nephronophthisis 9 [RCV005185877]	likely benign	17	28741163	28741163	Human	1	name
597963044	CV3841313	single nucleotide variant	NM_178170.3(NEK8):c.1197G>A (p.Gly399=)	Nephronophthisis 9 [RCV005193416]	likely benign	17	28738220	28738220	Human	1	name
597875091	CV3846437	single nucleotide variant	NM_178170.3(NEK8):c.2067G>A (p.Pro689=)	Nephronophthisis 9 [RCV005177320]	likely benign	17	28741975	28741975	Human	1	name
597917210	CV3861325	single nucleotide variant	NM_178170.3(NEK8):c.1896C>T (p.Ser632=)	Nephronophthisis 9 [RCV005204482]	likely benign	17	28741417	28741417	Human	1	name
617153105	CV4021078	single nucleotide variant	NM_178170.3(NEK8):c.1362C>T (p.His454=)	not provided [RCV005428831]	likely benign	17	28739146	28739146	Human		name
13478984	CV467210	single nucleotide variant	NM_178170.3(NEK8):c.2001G>A (p.Thr667=)	Nephronophthisis 9 [RCV000527873]	benign	17	28741522	28741522	Human	1	name
13500034	CV467385	deletion	NM_178170.3(NEK8):c.743del (p.Pro248fs)	Nephronophthisis 9 [RCV000540179]	pathogenic	17	28737429	28737429	Human	1	name
13513176	CV483113	single nucleotide variant	NM_178170.3(NEK8):c.259A>G (p.Thr87Ala)	Renal-hepatic-pancreatic dysplasia 2 [RCV000582388]	pathogenic	17	28734777	28734777	Human	1	name
13817291	CV570914	single nucleotide variant	NM_178170.3(NEK8):c.139G>T (p.Ala47Ser)	Nephronophthisis 9 [RCV000692924]	uncertain significance	17	28734074	28734074	Human	1	name
13833088	CV584316	single nucleotide variant	NM_178170.3(NEK8):c.133C>T (p.Arg45Trp)	Familial cystic renal disease [RCV004788151]\|Nephronophthisis 9 [RCV000816449]\|Polycystic kidney disease 8 [RCV005417384]\|not provided [RCV000728244]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	17	28734068	28734068	Human	3	name
15130627	CV684667	single nucleotide variant	NM_178170.3(NEK8):c.1263G>A (p.Gly421=)	NEK8-related disorder [RCV003908192]\|Nephronophthisis 9 [RCV002501223]\|Nephronophthisis 9 [RCV002538925]	likely benign	17	28738711	28738711	Human	2	name , trait , alternate_id
15134086	CV684668	single nucleotide variant	NM_178170.3(NEK8):c.1371C>A (p.Ala457=)	not provided [RCV000864074]	likely benign	17	28739155	28739155	Human		name
15125118	CV684669	single nucleotide variant	NM_178170.3(NEK8):c.2010C>T (p.Ser670=)	NEK8-related disorder [RCV003892787]\|Nephronophthisis 9 [RCV002501214]\|not provided [RCV000862531]	likely benign	17	28741531	28741531	Human	2	name , trait , alternate_id
15136504	CV688753	single nucleotide variant	NM_178170.3(NEK8):c.1167G>A (p.Ser389=)	not provided [RCV000864505]	likely benign	17	28738190	28738190	Human		name
15149360	CV688754	single nucleotide variant	NM_178170.3(NEK8):c.1464G>A (p.Gln488=)	Nephronophthisis 9 [RCV000866843]	likely benign	17	28740509	28740509	Human	1	name
15142561	CV688755	single nucleotide variant	NM_178170.3(NEK8):c.1539T>C (p.Pro513=)	Nephronophthisis 9 [RCV001122778]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	28740584	28740584	Human	1	name
15153935	CV688756	single nucleotide variant	NM_178170.3(NEK8):c.1548C>G (p.Ala516=)	not provided [RCV000867749]	likely benign	17	28740593	28740593	Human		name
15162008	CV688757	single nucleotide variant	NM_178170.3(NEK8):c.1632G>C (p.Val544=)	Nephronophthisis 9 [RCV001523192]\|Nephronophthisis 9 [RCV002501293]	benign\|likely benign	17	28740885	28740885	Human	1	name
15182074	CV740662	single nucleotide variant	NM_178170.3(NEK8):c.1842G>A (p.Lys614=)	not provided [RCV000907736]	likely benign	17	28741187	28741187	Human		name
15176697	CV771337	single nucleotide variant	NM_178170.3(NEK8):c.1578G>A (p.Lys526=)	not provided [RCV000928976]	likely benign	17	28740831	28740831	Human		name
126729246	CV1018265	single nucleotide variant	NM_178170.3(NEK8):c.506A>G (p.Tyr169Cys)	Nephronophthisis 9 [RCV001333095]	uncertain significance	17	28735259	28735259	Human	1	name
126757920	CV1033124	single nucleotide variant	NM_178170.3(NEK8):c.907G>A (p.Val303Met)	Inborn genetic diseases [RCV004960814]\|Nephronophthisis 9 [RCV001339703]	likely benign\|uncertain significance	17	28737836	28737836	Human	2	name
151661858	CV1330064	single nucleotide variant	NM_178170.3(NEK8):c.536C>G (p.Pro179Arg)	Renal-hepatic-pancreatic dysplasia 2 [RCV001823475]	uncertain significance	17	28735289	28735289	Human	1	name
151734699	CV1341115	single nucleotide variant	NM_178170.3(NEK8):c.857C>G (p.Thr286Arg)	Inborn genetic diseases [RCV002562098]\|Nephronophthisis 9 [RCV001946426]\|Nephronophthisis 9 [RCV002492020]	uncertain significance	17	28737704	28737704	Human	2	name
151822030	CV1387478	single nucleotide variant	NM_178170.3(NEK8):c.437G>T (p.Gly146Val)	Nephronophthisis 9 [RCV001992871]	uncertain significance	17	28734955	28734955	Human	1	name
152110254	CV1519492	single nucleotide variant	NM_178170.3(NEK8):c.385C>T (p.Leu129Phe)	Nephronophthisis 9 [RCV002152957]	likely benign	17	28734903	28734903	Human	1	name
156266895	CV1903071	single nucleotide variant	NM_178170.3(NEK8):c.478G>T (p.Ala160Ser)	Inborn genetic diseases [RCV004961031]\|Nephronophthisis 9 [RCV003086643]	uncertain significance	17	28734996	28734996	Human	2	name
156014173	CV2013350	single nucleotide variant	NM_178170.3(NEK8):c.841G>A (p.Val281Met)	Nephronophthisis 9 [RCV002735053]\|Nephronophthisis 9 [RCV005019343]\|not provided [RCV004584978]	uncertain significance	17	28737688	28737688	Human	1	name
156158073	CV2095000	single nucleotide variant	NM_178170.3(NEK8):c.886A>G (p.Arg296Gly)	Nephronophthisis 9 [RCV002890881]	uncertain significance	17	28737733	28737733	Human	1	name
156160017	CV2095134	single nucleotide variant	NM_178170.3(NEK8):c.779G>A (p.Arg260His)	Inborn genetic diseases [RCV002890955]\|Nephronophthisis 9 [RCV002890956]\|Nephronophthisis 9 [RCV005019438]	uncertain significance	17	28737466	28737466	Human	2	name
156246964	CV2101729	single nucleotide variant	NM_178170.3(NEK8):c.650G>C (p.Ser217Thr)	Nephronophthisis 9 [RCV002895122]	uncertain significance	17	28737337	28737337	Human	1	name
156033849	CV2127939	single nucleotide variant	NM_178170.3(NEK8):c.988C>T (p.Leu330Phe)	Nephronophthisis 9 [RCV002923632]\|Nephronophthisis 9 [RCV005019493]	uncertain significance	17	28737917	28737917	Human	1	name
156043694	CV2143591	single nucleotide variant	NM_178170.3(NEK8):c.328G>A (p.Val110Met)	Nephronophthisis 9 [RCV002999628]	uncertain significance	17	28734846	28734846	Human	1	name
155969822	CV2213389	single nucleotide variant	NM_178170.3(NEK8):c.869C>T (p.Thr290Ile)	Inborn genetic diseases [RCV002687399]\|NEK8-related disorder [RCV004754940]	uncertain significance	17	28737716	28737716	Human	1	name , trait , alternate_id
156129396	CV2238530	single nucleotide variant	NM_178170.3(NEK8):c.427G>A (p.Val143Ile)	Inborn genetic diseases [RCV002762832]\|Nephronophthisis 9 [RCV005021687]\|Nephronophthisis 9 [RCV005099633]	uncertain significance	17	28734945	28734945	Human	2	name
156352374	CV2323959	single nucleotide variant	NM_178170.3(NEK8):c.898C>T (p.Arg300Trp)	Inborn genetic diseases [RCV002940078]	uncertain significance	17	28737827	28737827	Human	1	name
155907082	CV2379207	single nucleotide variant	NM_178170.3(NEK8):c.817C>T (p.Arg273Cys)	Inborn genetic diseases [RCV002749618]\|Nephronophthisis 9 [RCV005021772]\|not provided [RCV004765744]	uncertain significance	17	28737504	28737504	Human	2	name
243054345	CV2418563	single nucleotide variant	NM_178170.3(NEK8):c.508A>T (p.Ile170Phe)	Nephronophthisis 9 [RCV005021827]\|not provided [RCV003154552]	uncertain significance	17	28735261	28735261	Human	1	name
11347709	CV242616	single nucleotide variant	NM_178170.3(NEK8):c.419G>T (p.Arg140Leu)	Inborn genetic diseases [RCV002519806]\|Nephronophthisis 9 [RCV000233038]\|Nephronophthisis 9 [RCV005003585]\|not provided [RCV000318228]	uncertain significance	17	28734937	28734937	Human	2	name
329357219	CV2457593	single nucleotide variant	NM_178170.3(NEK8):c.778C>T (p.Arg260Cys)	Inborn genetic diseases [RCV003203612]\|Nephronophthisis 9 [RCV005021848]	uncertain significance	17	28737465	28737465	Human	2	name
401743648	CV2684752	single nucleotide variant	NM_178170.3(NEK8):c.824G>A (p.Arg275Gln)	Inborn genetic diseases [RCV003251991]	uncertain significance	17	28737511	28737511	Human	1	name
401725787	CV2687261	single nucleotide variant	NM_178170.3(NEK8):c.818G>A (p.Arg273His)	Inborn genetic diseases [RCV003245997]\|NEK8-related disorder [RCV004754976]\|Nephronophthisis 9 [RCV005102569]	uncertain significance	17	28737505	28737505	Human	2	name , trait , alternate_id
401760343	CV2709790	single nucleotide variant	NM_178170.3(NEK8):c.767C>G (p.Pro256Arg)	Inborn genetic diseases [RCV003257181]\|Nephronophthisis 9 [RCV005021891]	uncertain significance	17	28737454	28737454	Human	2	name
401880006	CV2765137	single nucleotide variant	NM_178170.3(NEK8):c.667A>G (p.Ile223Val)	Inborn genetic diseases [RCV003349563]\|Nephronophthisis 9 [RCV005021917]	uncertain significance	17	28737354	28737354	Human	2	name
405035865	CV2995976	single nucleotide variant	NM_178170.3(NEK8):c.602G>C (p.Arg201Thr)	Nephronophthisis 9 [RCV003602192]	uncertain significance	17	28735355	28735355	Human	1	name
405132150	CV3133522	single nucleotide variant	NM_178170.3(NEK8):c.313A>G (p.Ile105Val)	Nephronophthisis 9 [RCV003838492]	uncertain significance	17	28734831	28734831	Human	1	name
405202673	CV3165007	single nucleotide variant	NM_178170.3(NEK8):c.802G>A (p.Asp268Asn)	Nephronophthisis 9 [RCV003860868]	uncertain significance	17	28737489	28737489	Human	1	name
405808753	CV3353338	single nucleotide variant	NM_178170.3(NEK8):c.676C>T (p.Arg226Trp)	Inborn genetic diseases [RCV004481364]	uncertain significance	17	28737363	28737363	Human	1	name
11617711	CV343939	single nucleotide variant	NM_178170.3(NEK8):c.880C>T (p.Arg294Cys)	Nephronophthisis 9 [RCV000307298]\|Nephronophthisis 9 [RCV005003638]	uncertain significance	17	28737727	28737727	Human	1	name
11621341	CV343941	single nucleotide variant	NM_178170.3(NEK8):c.881G>T (p.Arg294Leu)	Inborn genetic diseases [RCV002522926]\|Nephronophthisis 9 [RCV000347164]	uncertain significance	17	28737728	28737728	Human	2	name
407489601	CV3454888	single nucleotide variant	NM_178170.3(NEK8):c.423G>A (p.Met141Ile)	Inborn genetic diseases [RCV004641497]	uncertain significance	17	28734941	28734941	Human	1	name
408384536	CV3505419	deletion	NM_178170.3(NEK8):c.1114del (p.Ala372fs)	NEK8-related disorder [RCV004731841]	likely pathogenic	17	28738134	28738134	Human		name , trait , alternate_id
596938539	CV3549615	single nucleotide variant	NM_178170.3(NEK8):c.568G>A (p.Gly190Ser)	not provided [RCV004812655]	uncertain significance	17	28735321	28735321	Human		name
597721987	CV3555966	single nucleotide variant	NM_178170.3(NEK8):c.549G>T (p.Lys183Asn)	Inborn genetic diseases [RCV004961610]	uncertain significance	17	28735302	28735302	Human	1	name
597722002	CV3555968	single nucleotide variant	NM_178170.3(NEK8):c.938C>T (p.Ser313Leu)	Inborn genetic diseases [RCV004961612]	uncertain significance	17	28737867	28737867	Human	1	name
12838497	CV363586	single nucleotide variant	NM_178170.3(NEK8):c.589G>C (p.Ala197Pro)	Neoplasm of the pancreas [RCV002244868]	likely pathogenic	17	28735342	28735342	Human	1	name
597760040	CV3712302	single nucleotide variant	NM_178170.3(NEK8):c.307G>A (p.Glu103Lys)	Nephronophthisis 9 [RCV005018098]	uncertain significance	17	28734825	28734825	Human	1	name
597760045	CV3712303	single nucleotide variant	NM_178170.3(NEK8):c.368T>A (p.Leu123His)	Nephronophthisis 9 [RCV005018099]	uncertain significance	17	28734886	28734886	Human	1	name
597760050	CV3712304	single nucleotide variant	NM_178170.3(NEK8):c.406C>T (p.Leu136Phe)	Nephronophthisis 9 [RCV005018100]	uncertain significance	17	28734924	28734924	Human	1	name
597760055	CV3712305	single nucleotide variant	NM_178170.3(NEK8):c.418C>T (p.Arg140Cys)	Nephronophthisis 9 [RCV005018101]\|Nephronophthisis 9 [RCV005112650]	uncertain significance	17	28734936	28734936	Human	1	name
597760062	CV3712306	single nucleotide variant	NM_178170.3(NEK8):c.467G>A (p.Ser156Asn)	Nephronophthisis 9 [RCV005018102]	uncertain significance	17	28734985	28734985	Human	1	name
597760073	CV3712307	single nucleotide variant	NM_178170.3(NEK8):c.514C>A (p.Pro172Thr)	Nephronophthisis 9 [RCV005018104]	uncertain significance	17	28735267	28735267	Human	1	name
597760083	CV3712309	single nucleotide variant	NM_178170.3(NEK8):c.675C>A (p.Asp225Glu)	Nephronophthisis 9 [RCV005018106]	uncertain significance	17	28737362	28737362	Human	1	name
597760090	CV3712310	single nucleotide variant	NM_178170.3(NEK8):c.695G>A (p.Arg232His)	Nephronophthisis 9 [RCV005018107]	uncertain significance	17	28737382	28737382	Human	1	name
597760095	CV3712311	single nucleotide variant	NM_178170.3(NEK8):c.724G>C (p.Glu242Gln)	Nephronophthisis 9 [RCV005018108]	uncertain significance	17	28737411	28737411	Human	1	name
597760100	CV3712312	single nucleotide variant	NM_178170.3(NEK8):c.763C>T (p.Gln255Ter)	Nephronophthisis 9 [RCV005018109]	likely pathogenic	17	28737450	28737450	Human	1	name
597760112	CV3712313	single nucleotide variant	NM_178170.3(NEK8):c.793C>G (p.Leu265Val)	Nephronophthisis 9 [RCV005018111]	uncertain significance	17	28737480	28737480	Human	1	name
597760118	CV3712314	single nucleotide variant	NM_178170.3(NEK8):c.809G>A (p.Gly270Asp)	Nephronophthisis 9 [RCV005018112]	uncertain significance	17	28737496	28737496	Human	1	name
597760123	CV3712315	single nucleotide variant	NM_178170.3(NEK8):c.852C>A (p.Ser284Arg)	Nephronophthisis 9 [RCV005018113]	uncertain significance	17	28737699	28737699	Human	1	name
597760141	CV3712318	single nucleotide variant	NM_178170.3(NEK8):c.953G>A (p.Gly318Asp)	Nephronophthisis 9 [RCV005018116]	uncertain significance	17	28737882	28737882	Human	1	name
597760146	CV3712319	single nucleotide variant	NM_178170.3(NEK8):c.968C>T (p.Thr323Ile)	Nephronophthisis 9 [RCV005018117]	uncertain significance	17	28737897	28737897	Human	1	name
597959222	CV3752062	deletion	NM_178170.3(NEK8):c.2010del (p.Val671fs)	Nephronophthisis 9 [RCV005081192]	uncertain significance	17	28741530	28741530	Human	1	name
597958063	CV3755242	single nucleotide variant	NM_178170.3(NEK8):c.445G>A (p.Gly149Ser)	Nephronophthisis 9 [RCV005080912]	uncertain significance	17	28734963	28734963	Human	1	name
597941356	CV3757383	single nucleotide variant	NM_178170.3(NEK8):c.736C>T (p.Arg246Trp)	Nephronophthisis 9 [RCV005077569]	uncertain significance	17	28737423	28737423	Human	1	name
597933599	CV3844663	single nucleotide variant	NM_178170.3(NEK8):c.664C>G (p.Pro222Ala)	Nephronophthisis 9 [RCV005186169]	uncertain significance	17	28737351	28737351	Human	1	name
597914756	CV3851180	single nucleotide variant	NM_178170.3(NEK8):c.605C>T (p.Ala202Val)	Nephronophthisis 9 [RCV005204148]	uncertain significance	17	28735358	28735358	Human	1	name
598254383	CV3990723	single nucleotide variant	NM_178170.3(NEK8):c.709A>T (p.Ser237Cys)	Inborn genetic diseases [RCV005385493]	uncertain significance	17	28737396	28737396	Human	1	name
598231875	CV3990725	single nucleotide variant	NM_178170.3(NEK8):c.600G>C (p.Lys200Asn)	Inborn genetic diseases [RCV005381437]	uncertain significance	17	28735353	28735353	Human	1	name
12884832	CV402077	single nucleotide variant	NM_178170.3(NEK8):c.581A>C (p.Tyr194Ser)	Nephronophthisis 9 [RCV000464200]	uncertain significance	17	28735334	28735334	Human	1	name
13474442	CV467207	single nucleotide variant	NM_178170.3(NEK8):c.583G>A (p.Glu195Lys)	NEK8-related disorder [RCV004754468]\|Nephronophthisis 9 [RCV000548256]\|Nephronophthisis 9 [RCV002483469]\|not provided [RCV002221555]\|not specified [RCV003387880]	uncertain significance	17	28735336	28735336	Human	2	name , trait , alternate_id
13513180	CV483117	single nucleotide variant	NM_178170.3(NEK8):c.379C>T (p.Arg127Ter)	Nephronophthisis 9 [RCV002530757]\|Nephronophthisis 9 [RCV005004257]\|Renal-hepatic-pancreatic dysplasia 2 [RCV000583490]	pathogenic	17	28734897	28734897	Human	2	name
13621684	CV530655	single nucleotide variant	NM_178170.3(NEK8):c.977G>A (p.Arg326Gln)	Nephronophthisis 9 [RCV000648814]\|Nephronophthisis 9 [RCV005004297]	uncertain significance	17	28737906	28737906	Human	1	name
13814046	CV570830	single nucleotide variant	NM_178170.3(NEK8):c.419G>A (p.Arg140His)	Nephronophthisis 9 [RCV000704794]	uncertain significance	17	28734937	28734937	Human	1	name
14693583	CV620579	duplication	NM_178170.3(NEK8):c.2016dup (p.Cys673fs)	Nephronophthisis 9 [RCV000779212]	uncertain significance	17	28741535	28741536	Human		name
14708937	CV645429	single nucleotide variant	NM_178170.3(NEK8):c.656C>A (p.Thr219Asn)	Nephronophthisis 9 [RCV000792726]	uncertain significance	17	28737343	28737343	Human	1	name
14719546	CV645430	single nucleotide variant	NM_178170.3(NEK8):c.976C>T (p.Arg326Trp)	Inborn genetic diseases [RCV003166136]\|Nephronophthisis 9 [RCV000796251]\|Nephronophthisis 9 [RCV002477813]	uncertain significance	17	28737905	28737905	Human	2	name
26915350	CV844838	single nucleotide variant	NM_178170.3(NEK8):c.935C>T (p.Ser312Leu)	Nephronophthisis 9 [RCV001041288]\|Nephronophthisis 9 [RCV002489570]	uncertain significance	17	28737864	28737864	Human	1	name
26918410	CV844839	single nucleotide variant	NM_178170.3(NEK8):c.985A>G (p.Met329Val)	Nephronophthisis 9 [RCV001057869]\|Nephronophthisis 9 [RCV002482023]	uncertain significance	17	28737914	28737914	Human	1	name
28905277	CV877094	single nucleotide variant	NM_178170.3(NEK8):c.899G>A (p.Arg300Gln)	NEK8-related disorder [RCV003963069]\|Nephronophthisis 9 [RCV001126425]	uncertain significance	17	28737828	28737828	Human	1	name , trait , alternate_id
38499567	CV958017	single nucleotide variant	NM_178170.3(NEK8):c.737G>A (p.Arg246Gln)	Nephronophthisis 9 [RCV001244802]	uncertain significance	17	28737424	28737424	Human	1	name
38493079	CV958018	single nucleotide variant	NM_178170.3(NEK8):c.881G>A (p.Arg294His)	Inborn genetic diseases [RCV002563976]\|Nephronophthisis 9 [RCV001240493]\|not provided [RCV003132326]	uncertain significance	17	28737728	28737728	Human	2	name
126746643	CV997393	single nucleotide variant	NM_178170.3(NEK8):c.673G>C (p.Asp225His)	Nephronophthisis 9 [RCV001306128]\|Nephronophthisis 9 [RCV005014379]	uncertain significance	17	28737360	28737360	Human	1	name
126754218	CV1012630	single nucleotide variant	NM_178170.3(NEK8):c.2000C>T (p.Thr667Met)	Inborn genetic diseases [RCV002546224]\|Nephronophthisis 9 [RCV001327457]\|Nephronophthisis 9 [RCV005005178]	uncertain significance	17	28741521	28741521	Human	2	name
126757970	CV1033125	single nucleotide variant	NM_178170.3(NEK8):c.1771G>A (p.Gly591Arg)	Nephronophthisis 9 [RCV001339721]\|Nephronophthisis 9 [RCV005014450]	uncertain significance	17	28741116	28741116	Human	1	name
127293910	CV1157924	single nucleotide variant	NM_178170.3(NEK8):c.1489G>C (p.Ala497Pro)	Nephronophthisis 9 [RCV001511521]\|Nephronophthisis 9 [RCV005014577]\|not provided [RCV004571039]	benign\|likely benign	17	28740534	28740534	Human	1	name
151883526	CV1337953	single nucleotide variant	NM_178170.3(NEK8):c.2066C>T (p.Pro689Leu)	Inborn genetic diseases [RCV005382217]\|Nephronophthisis 9 [RCV001962149]	uncertain significance	17	28741974	28741974	Human	2	name
151803735	CV1351863	single nucleotide variant	NM_178170.3(NEK8):c.1045C>T (p.Arg349Cys)	Nephronophthisis 9 [RCV001974145]	uncertain significance	17	28737974	28737974	Human	1	name
151884670	CV1432654	single nucleotide variant	NM_178170.3(NEK8):c.1736C>T (p.Ser579Leu)	Inborn genetic diseases [RCV002573536]\|Nephronophthisis 9 [RCV002000323]\|Nephronophthisis 9 [RCV002507743]	uncertain significance	17	28741081	28741081	Human	2	name
151876866	CV1461456	duplication	NM_178170.3(NEK8):c.1997dup (p.Tyr666Ter)	Nephronophthisis 9 [RCV001925927]	pathogenic	17	28741517	28741518	Human	1	name
151872656	CV1470866	single nucleotide variant	NM_178170.3(NEK8):c.1078C>T (p.Pro360Ser)	Nephronophthisis 9 [RCV001925418]\|Nephronophthisis 9 [RCV002478329]	uncertain significance	17	28738101	28738101	Human	1	name
8556258	CV16527	single nucleotide variant	NM_178170.3(NEK8):c.1273C>T (p.His425Tyr)	Nephronophthisis 9 [RCV000001553]	pathogenic	17	28738721	28738721	Human	1	name
155800710	CV1863793	single nucleotide variant	NM_178170.3(NEK8):c.1096G>A (p.Gly366Ser)	not provided [RCV002474216]	uncertain significance	17	28738119	28738119	Human		name
156216810	CV1869390	single nucleotide variant	NM_178170.3(NEK8):c.1084G>C (p.Gly362Arg)	Nephronophthisis 9 [RCV003058760]	uncertain significance	17	28738107	28738107	Human	1	name
10044984	CV188878	single nucleotide variant	NM_178170.3(NEK8):c.1401G>A (p.Trp467Ter)	Renal-hepatic-pancreatic dysplasia 2 [RCV000581604]\|not provided [RCV000171252]	pathogenic\|likely pathogenic	17	28739185	28739185	Human	1	name
156293360	CV1926177	single nucleotide variant	NM_178170.3(NEK8):c.1454G>A (p.Cys485Tyr)	Nephronophthisis 9 [RCV002647292]	uncertain significance	17	28740499	28740499	Human	1	name
156438526	CV1947136	single nucleotide variant	NM_178170.3(NEK8):c.1049C>T (p.Ser350Phe)	Nephronophthisis 9 [RCV003108470]	uncertain significance	17	28737978	28737978	Human	1	name
156448526	CV1950809	single nucleotide variant	NM_178170.3(NEK8):c.1931G>A (p.Arg644Gln)	Nephronophthisis 9 [RCV003120088]	uncertain significance	17	28741452	28741452	Human	1	name
156238724	CV1952902	single nucleotide variant	NM_178170.3(NEK8):c.1411G>A (p.Asp471Asn)	Nephronophthisis 9 [RCV002576144]	uncertain significance	17	28739195	28739195	Human	1	name
10053106	CV195791	single nucleotide variant	NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu)	Nephronophthisis 9 [RCV000792333]\|Nephronophthisis 9 [RCV005003535]\|not provided [RCV000180016]	uncertain significance	17	28737984	28737984	Human	2	name
10053106	CV195791	single nucleotide variant	NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu)	Nephronophthisis 9 [RCV000792333]\|Nephronophthisis 9 [RCV005003535]\|not provided [RCV000180016]	uncertain significance	17	28737984	28737985	Human	2	name
156361326	CV2003203	single nucleotide variant	NM_178170.3(NEK8):c.1204T>C (p.Phe402Leu)	Nephronophthisis 9 [RCV002676267]	uncertain significance	17	28738227	28738227	Human	1	name
156146237	CV2090896	single nucleotide variant	NM_178170.3(NEK8):c.2075C>G (p.Pro692Arg)	Nephronophthisis 9 [RCV002890495]	uncertain significance	17	28741983	28741983	Human	1	name
156300358	CV2104904	single nucleotide variant	NM_178170.3(NEK8):c.1924C>T (p.Arg642Ter)	Nephronophthisis 9 [RCV002922544]	pathogenic	17	28741445	28741445	Human	1	name
156003120	CV2106882	single nucleotide variant	NM_178170.3(NEK8):c.1439G>C (p.Arg480Thr)	Nephronophthisis 9 [RCV002947883]	uncertain significance	17	28740484	28740484	Human	1	name
156370991	CV2109825	single nucleotide variant	NM_178170.3(NEK8):c.1928G>A (p.Gly643Asp)	Nephronophthisis 9 [RCV002942321]	uncertain significance	17	28741449	28741449	Human	1	name
156146857	CV2119062	single nucleotide variant	NM_178170.3(NEK8):c.1316C>T (p.Ala439Val)	Nephronophthisis 9 [RCV002954428]\|Nephronophthisis 9 [RCV005019507]	uncertain significance	17	28739100	28739100	Human	1	name
156130486	CV2125117	single nucleotide variant	NM_178170.3(NEK8):c.1696A>G (p.Ile566Val)	Nephronophthisis 9 [RCV002953859]	uncertain significance	17	28740949	28740949	Human	1	name
156365407	CV2130585	single nucleotide variant	NM_178170.3(NEK8):c.1496G>A (p.Arg499Gln)	Inborn genetic diseases [RCV004068314]\|Nephronophthisis 9 [RCV002967266]	uncertain significance	17	28740541	28740541	Human	2	name
10766903	CV222561	single nucleotide variant	NM_178170.3(NEK8):c.2011G>A (p.Val671Met)	Nephronophthisis 9 [RCV000203849]	uncertain significance	17	28741532	28741532	Human	1	name
155960711	CV2249486	single nucleotide variant	NM_178170.3(NEK8):c.1276G>A (p.Gly426Ser)	Inborn genetic diseases [RCV002816804]	uncertain significance	17	28738724	28738724	Human	1	name
155991573	CV2256464	single nucleotide variant	NM_178170.3(NEK8):c.1676A>C (p.Asp559Ala)	Inborn genetic diseases [RCV002793721]\|Nephronophthisis 9 [RCV005021697]	uncertain significance	17	28740929	28740929	Human	2	name
156138851	CV2280705	single nucleotide variant	NM_178170.3(NEK8):c.2020T>C (p.Cys674Arg)	Inborn genetic diseases [RCV002850170]	uncertain significance	17	28741541	28741541	Human	1	name
155961559	CV2311927	single nucleotide variant	NM_178170.3(NEK8):c.1328A>G (p.Tyr443Cys)	Inborn genetic diseases [RCV002906080]	uncertain significance	17	28739112	28739112	Human	1	name
155967337	CV2312705	single nucleotide variant	NM_178170.3(NEK8):c.1594C>T (p.Leu532Phe)	Inborn genetic diseases [RCV002906606]	uncertain significance	17	28740847	28740847	Human	1	name
156274523	CV2320033	single nucleotide variant	NM_178170.3(NEK8):c.1573A>G (p.Asn525Asp)	Inborn genetic diseases [RCV002921319]	uncertain significance	17	28740826	28740826	Human	1	name
156056868	CV2396288	single nucleotide variant	NM_178170.3(NEK8):c.1405C>T (p.Arg469Cys)	Inborn genetic diseases [RCV002759671]\|Nephronophthisis 9 [RCV005021778]	uncertain significance	17	28739189	28739189	Human	2	name
243050269	CV2415382	single nucleotide variant	NM_178170.3(NEK8):c.1148G>C (p.Arg383Pro)	Renal-hepatic-pancreatic dysplasia 2 [RCV003147898]	uncertain significance	17	28738171	28738171	Human	1	name
329392706	CV2439132	single nucleotide variant	NM_178170.3(NEK8):c.1723G>T (p.Ala575Ser)	Inborn genetic diseases [RCV003192800]	uncertain significance	17	28740976	28740976	Human	1	name
329352640	CV2470260	single nucleotide variant	NM_178170.3(NEK8):c.2051C>T (p.Ser684Leu)	Inborn genetic diseases [RCV003200658]\|Nephronophthisis 9 [RCV005061100]	uncertain significance	17	28741959	28741959	Human	2	name
11639076	CV265709	single nucleotide variant	NM_178170.3(NEK8):c.1000G>A (p.Val334Met)	Nephronophthisis 9 [RCV002502094]\|not provided [RCV000314961]	uncertain significance	17	28737929	28737929	Human	1	name
401719225	CV2679460	single nucleotide variant	NM_178170.3(NEK8):c.1088C>T (p.Ala363Val)	Inborn genetic diseases [RCV003243638]	uncertain significance	17	28738111	28738111	Human	1	name
401727413	CV2681002	single nucleotide variant	NM_178170.3(NEK8):c.1147C>A (p.Arg383Ser)	Inborn genetic diseases [RCV003270046]	uncertain significance	17	28738170	28738170	Human	1	name
401781678	CV2682095	single nucleotide variant	NM_178170.3(NEK8):c.1702C>A (p.Leu568Met)	Inborn genetic diseases [RCV003265323]	uncertain significance	17	28740955	28740955	Human	1	name
405017669	CV3043984	single nucleotide variant	NM_178170.3(NEK8):c.1330G>T (p.Glu444Ter)	Nephronophthisis 9 [RCV003600350]\|Renal-hepatic-pancreatic dysplasia 2 [RCV005356505]	pathogenic\|likely pathogenic	17	28739114	28739114	Human	2	name
11614468	CV327906	single nucleotide variant	NM_178170.3(NEK8):c.1179C>G (p.Ile393Met)	Inborn genetic diseases [RCV004639217]\|Nephronophthisis 9 [RCV000277028]\|Nephronophthisis 9 [RCV002504094]\|not provided [RCV003441841]	uncertain significance	17	28738202	28738202	Human	2	name
11613187	CV327911	single nucleotide variant	NM_178170.3(NEK8):c.2048G>A (p.Arg683Gln)	Inborn genetic diseases [RCV004955426]\|NEK8-related disorder [RCV003409507]\|Nephronophthisis 9 [RCV000265888]\|Nephronophthisis 9 [RCV002502248]	uncertain significance	17	28741569	28741569	Human	3	name , trait , alternate_id
405808667	CV3353270	single nucleotide variant	NM_178170.3(NEK8):c.1619C>T (p.Pro540Leu)	Inborn genetic diseases [RCV004481296]	uncertain significance	17	28740872	28740872	Human	1	name
405808673	CV3353273	single nucleotide variant	NM_178170.3(NEK8):c.1627C>G (p.Gln543Glu)	Inborn genetic diseases [RCV004481299]	uncertain significance	17	28740880	28740880	Human	1	name
11625596	CV337723	single nucleotide variant	NM_178170.3(NEK8):c.1093G>A (p.Gly365Arg)	Inborn genetic diseases [RCV004955425]\|Nephronophthisis 9 [RCV001063364]	uncertain significance	17	28738116	28738116	Human	2	name
11618236	CV343945	single nucleotide variant	NM_178170.3(NEK8):c.1148G>A (p.Arg383His)	Nephronophthisis 9 [RCV000312188]\|Nephronophthisis 9 [RCV005016709]	uncertain significance	17	28738171	28738171	Human	1	name
11629267	CV345397	single nucleotide variant	NM_178170.3(NEK8):c.1897G>A (p.Glu633Lys)	NEK8-related disorder [RCV003940269]\|Nephronophthisis 9 [RCV000319909]\|not provided [RCV001660663]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	28741418	28741418	Human	1	name , trait , alternate_id
407526273	CV3454885	single nucleotide variant	NM_178170.3(NEK8):c.2065C>T (p.Pro689Ser)	Inborn genetic diseases [RCV004654752]	uncertain significance	17	28741973	28741973	Human	1	name
407526275	CV3454886	single nucleotide variant	NM_178170.3(NEK8):c.1601T>C (p.Leu534Pro)	Inborn genetic diseases [RCV004654753]	uncertain significance	17	28740854	28740854	Human	1	name
408374096	CV3502248	single nucleotide variant	NM_178170.3(NEK8):c.2036T>C (p.Leu679Pro)	not provided [RCV004725835]	uncertain significance	17	28741557	28741557	Human		name
408384682	CV3504446	single nucleotide variant	NM_178170.3(NEK8):c.1217T>C (p.Leu406Pro)	NEK8-related disorder [RCV004731967]	uncertain significance	17	28738240	28738240	Human		name , trait , alternate_id
596925460	CV3542089	single nucleotide variant	NM_178170.3(NEK8):c.1465G>A (p.Val489Met)	Nephronophthisis 9 [RCV004795805]	uncertain significance	17	28740510	28740510	Human	1	name
597721961	CV3555961	single nucleotide variant	NM_178170.3(NEK8):c.1712C>T (p.Ala571Val)	Inborn genetic diseases [RCV004961606]	uncertain significance	17	28740965	28740965	Human	1	name
597721969	CV3555963	single nucleotide variant	NM_178170.3(NEK8):c.1109C>A (p.Pro370His)	Inborn genetic diseases [RCV004961607]	uncertain significance	17	28738132	28738132	Human	1	name
597721978	CV3555964	single nucleotide variant	NM_178170.3(NEK8):c.1372C>G (p.Leu458Val)	Inborn genetic diseases [RCV004961608]	uncertain significance	17	28739156	28739156	Human	1	name
597760158	CV3712321	single nucleotide variant	NM_178170.3(NEK8):c.1024A>G (p.Thr342Ala)	Nephronophthisis 9 [RCV005018119]	uncertain significance	17	28737953	28737953	Human	1	name
597760163	CV3712322	single nucleotide variant	NM_178170.3(NEK8):c.1068G>A (p.Trp356Ter)	Nephronophthisis 9 [RCV005018120]	likely pathogenic	17	28737997	28737997	Human	1	name
597760180	CV3712324	single nucleotide variant	NM_178170.3(NEK8):c.1114G>T (p.Ala372Ser)	Nephronophthisis 9 [RCV005018123]	uncertain significance	17	28738137	28738137	Human	1	name
597760486	CV3712325	single nucleotide variant	NM_178170.3(NEK8):c.1147C>T (p.Arg383Cys)	Nephronophthisis 9 [RCV005018124]	uncertain significance	17	28738170	28738170	Human	1	name
597760197	CV3712327	single nucleotide variant	NM_178170.3(NEK8):c.1232T>G (p.Ile411Ser)	Nephronophthisis 9 [RCV005018126]	uncertain significance	17	28738680	28738680	Human	1	name
597760209	CV3712329	single nucleotide variant	NM_178170.3(NEK8):c.1251C>G (p.Ser417Arg)	Nephronophthisis 9 [RCV005018128]	uncertain significance	17	28738699	28738699	Human	1	name
597760214	CV3712330	single nucleotide variant	NM_178170.3(NEK8):c.1271G>C (p.Gly424Ala)	Nephronophthisis 9 [RCV005018129]	uncertain significance	17	28738719	28738719	Human	1	name
597760219	CV3712331	single nucleotide variant	NM_178170.3(NEK8):c.1280G>A (p.Ser427Asn)	Nephronophthisis 9 [RCV005018130]\|Nephronophthisis 9 [RCV005112651]	uncertain significance	17	28738728	28738728	Human	1	name
597760226	CV3712332	single nucleotide variant	NM_178170.3(NEK8):c.1363G>A (p.Val455Met)	Nephronophthisis 9 [RCV005018131]	uncertain significance	17	28739147	28739147	Human	1	name
597760231	CV3712333	single nucleotide variant	NM_178170.3(NEK8):c.1363G>C (p.Val455Leu)	Nephronophthisis 9 [RCV005018132]	uncertain significance	17	28739147	28739147	Human	1	name
597760236	CV3712334	single nucleotide variant	NM_178170.3(NEK8):c.1373T>G (p.Leu458Arg)	Nephronophthisis 9 [RCV005018133]	uncertain significance	17	28739157	28739157	Human	1	name
597702845	CV3712335	single nucleotide variant	NM_178170.3(NEK8):c.1385G>A (p.Arg462Gln)	Nephronophthisis 9 [RCV005018134]\|Nephronophthisis 9 [RCV005112652]\|Renal-hepatic-pancreatic dysplasia 2 [RCV005052118]	uncertain significance	17	28739169	28739169	Human	2	name
597760248	CV3712337	single nucleotide variant	NM_178170.3(NEK8):c.1417G>A (p.Gly473Ser)	Nephronophthisis 9 [RCV005018136]	uncertain significance	17	28739201	28739201	Human	1	name
597760255	CV3712338	single nucleotide variant	NM_178170.3(NEK8):c.1481G>C (p.Gly494Ala)	Nephronophthisis 9 [RCV005018137]	uncertain significance	17	28740526	28740526	Human	1	name
597760260	CV3712339	single nucleotide variant	NM_178170.3(NEK8):c.1495C>T (p.Arg499Ter)	Nephronophthisis 9 [RCV005018138]	likely pathogenic	17	28740540	28740540	Human	1	name
597760265	CV3712340	single nucleotide variant	NM_178170.3(NEK8):c.1496G>T (p.Arg499Leu)	Nephronophthisis 9 [RCV005018139]	uncertain significance	17	28740541	28740541	Human	1	name
597760271	CV3712341	single nucleotide variant	NM_178170.3(NEK8):c.1598C>T (p.Ser533Phe)	Nephronophthisis 9 [RCV005018140]\|Nephronophthisis 9 [RCV005112653]	uncertain significance	17	28740851	28740851	Human	1	name
597760277	CV3712342	single nucleotide variant	NM_178170.3(NEK8):c.1688T>C (p.Leu563Pro)	Nephronophthisis 9 [RCV005018141]	uncertain significance	17	28740941	28740941	Human	1	name
597760294	CV3712344	single nucleotide variant	NM_178170.3(NEK8):c.1796G>A (p.Arg599Gln)	Nephronophthisis 9 [RCV005018144]	uncertain significance	17	28741141	28741141	Human	1	name
597760299	CV3712345	single nucleotide variant	NM_178170.3(NEK8):c.1805G>A (p.Arg602Gln)	Nephronophthisis 9 [RCV005018145]	uncertain significance	17	28741150	28741150	Human	1	name
597760306	CV3712346	single nucleotide variant	NM_178170.3(NEK8):c.1823A>G (p.Gln608Arg)	Nephronophthisis 9 [RCV005018146]	uncertain significance	17	28741168	28741168	Human	1	name
597760312	CV3712347	single nucleotide variant	NM_178170.3(NEK8):c.1853T>C (p.Val618Ala)	Nephronophthisis 9 [RCV005018147]	uncertain significance	17	28741198	28741198	Human	1	name
597760318	CV3712348	single nucleotide variant	NM_178170.3(NEK8):c.1882A>C (p.Ile628Leu)	Nephronophthisis 9 [RCV005018148]	uncertain significance	17	28741227	28741227	Human	1	name
597760323	CV3712349	single nucleotide variant	NM_178170.3(NEK8):c.1888G>A (p.Ala630Thr)	Nephronophthisis 9 [RCV005018149]	uncertain significance	17	28741233	28741233	Human	1	name
597760329	CV3712350	single nucleotide variant	NM_178170.3(NEK8):c.1910G>A (p.Trp637Ter)	Nephronophthisis 9 [RCV005018150]	likely pathogenic	17	28741431	28741431	Human	1	name
597760340	CV3712352	single nucleotide variant	NM_178170.3(NEK8):c.1916A>C (p.Lys639Thr)	Nephronophthisis 9 [RCV005018152]	uncertain significance	17	28741437	28741437	Human	1	name
597760346	CV3712353	single nucleotide variant	NM_178170.3(NEK8):c.1919G>C (p.Gly640Ala)	Nephronophthisis 9 [RCV005018153]	uncertain significance	17	28741440	28741440	Human	1	name
597760354	CV3712354	single nucleotide variant	NM_178170.3(NEK8):c.1922C>G (p.Ala641Gly)	Nephronophthisis 9 [RCV005018154]	uncertain significance	17	28741443	28741443	Human	1	name
597760359	CV3712355	single nucleotide variant	NM_178170.3(NEK8):c.1958G>A (p.Gly653Glu)	Nephronophthisis 9 [RCV005018155]	uncertain significance	17	28741479	28741479	Human	1	name
597760365	CV3712356	single nucleotide variant	NM_178170.3(NEK8):c.1966C>G (p.Arg656Gly)	Nephronophthisis 9 [RCV005018156]	uncertain significance	17	28741487	28741487	Human	1	name
597760370	CV3712357	single nucleotide variant	NM_178170.3(NEK8):c.2018G>C (p.Cys673Ser)	Nephronophthisis 9 [RCV005018157]	uncertain significance	17	28741539	28741539	Human	1	name
597760522	CV3712359	single nucleotide variant	NM_178170.3(NEK8):c.2068G>T (p.Val690Phe)	Nephronophthisis 9 [RCV005018159]	uncertain significance	17	28741976	28741976	Human	1	name
597760527	CV3712361	single nucleotide variant	NM_178170.3(NEK8):c.2071C>T (p.Pro691Ser)	Nephronophthisis 9 [RCV005018160]	uncertain significance	17	28741979	28741979	Human	1	name
597760539	CV3712362	single nucleotide variant	NM_178170.3(NEK8):c.2074C>A (p.Pro692Thr)	Nephronophthisis 9 [RCV005018162]	uncertain significance	17	28741982	28741982	Human	1	name
597760544	CV3712363	single nucleotide variant	NM_178170.3(NEK8):c.2075C>A (p.Pro692His)	Nephronophthisis 9 [RCV005018163]	uncertain significance	17	28741983	28741983	Human	1	name
597967141	CV3751759	single nucleotide variant	NM_178170.3(NEK8):c.1745G>C (p.Cys582Ser)	Nephronophthisis 9 [RCV005083129]	uncertain significance	17	28741090	28741090	Human	1	name
597973509	CV3801184	single nucleotide variant	NM_178170.3(NEK8):c.1022G>A (p.Arg341His)	Nephronophthisis 9 [RCV005143379]	uncertain significance	17	28737951	28737951	Human	1	name
597971362	CV3802542	single nucleotide variant	NM_178170.3(NEK8):c.1501G>A (p.Val501Ile)	Nephronophthisis 9 [RCV005142140]	uncertain significance	17	28740546	28740546	Human	1	name
597904881	CV3803604	single nucleotide variant	NM_178170.3(NEK8):c.1160G>T (p.Gly387Val)	Nephronophthisis 9 [RCV005153337]	uncertain significance	17	28738183	28738183	Human	1	name
597937699	CV3862757	single nucleotide variant	NM_178170.3(NEK8):c.2056A>C (p.Thr686Pro)	Nephronophthisis 9 [RCV005208029]	uncertain significance	17	28741964	28741964	Human	1	name
598228380	CV3894622	single nucleotide variant	NM_178170.3(NEK8):c.2047C>G (p.Arg683Gly)	not provided [RCV005257866]	uncertain significance	17	28741568	28741568	Human		name
598231871	CV3990724	single nucleotide variant	NM_178170.3(NEK8):c.1612C>G (p.Pro538Ala)	Inborn genetic diseases [RCV005381436]	uncertain significance	17	28740865	28740865	Human	1	name
616939920	CV4014363	single nucleotide variant	NM_178170.3(NEK8):c.1003G>A (p.Val335Ile)	not provided [RCV005413857]	uncertain significance	17	28737932	28737932	Human		name
13508724	CV483112	single nucleotide variant	NM_178170.3(NEK8):c.1043C>T (p.Thr348Met)	Nephronophthisis 9 [RCV002529116]\|Renal-hepatic-pancreatic dysplasia 2 [RCV000584523]	pathogenic\|uncertain significance	17	28737972	28737972	Human	2	name
13513196	CV483114	single nucleotide variant	NM_178170.3(NEK8):c.1804C>T (p.Arg602Trp)	Nephronophthisis 9 [RCV001065178]\|Nephronophthisis 9 [RCV005019005]\|Renal-hepatic-pancreatic dysplasia 2 [RCV000582929]	pathogenic\|uncertain significance	17	28741149	28741149	Human	2	name
13509392	CV483115	single nucleotide variant	NM_178170.3(NEK8):c.1738G>A (p.Gly580Ser)	Renal-hepatic-pancreatic dysplasia 2 [RCV000584400]	pathogenic	17	28741083	28741083	Human	1	name
13513175	CV483118	single nucleotide variant	NM_178170.3(NEK8):c.1384C>T (p.Arg462Ter)	Nephronophthisis 9 [RCV005019006]\|Renal-hepatic-pancreatic dysplasia 2 [RCV000581336]	pathogenic	17	28739168	28739168	Human	2	name
13621686	CV530912	single nucleotide variant	NM_178170.3(NEK8):c.1237A>C (p.Met413Leu)	Kidney disorder [RCV002294361]\|NEK8-related disorder [RCV003945643]\|Nephronophthisis 9 [RCV000648817]\|not provided [RCV004704166]	likely benign\|uncertain significance	17	28738685	28738685	Human	3	name , trait , alternate_id
13832299	CV582793	single nucleotide variant	NM_178170.3(NEK8):c.2012T>C (p.Val671Ala)	not provided [RCV000722986]	uncertain significance	17	28741533	28741533	Human		name
14399889	CV610470	single nucleotide variant	NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr)	Nephronophthisis 9 [RCV001126429]\|Nephronophthisis 9 [RCV005004398]\|Premature ovarian insufficiency [RCV000766163]	uncertain significance	17	28738123	28738123	Human	3	name
14702695	CV626252	single nucleotide variant	NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser)	Nephronophthisis 9 [RCV005004422]\|Renal-hepatic-pancreatic dysplasia 2 [RCV000791121]	uncertain significance	17	28737965	28737965	Human	2	name
14741521	CV645431	single nucleotide variant	NM_178170.3(NEK8):c.1246G>A (p.Gly416Ser)	Nephronophthisis 9 [RCV000805813]\|Nephronophthisis 9 [RCV005004436]\|not provided [RCV003456435]	uncertain significance	17	28738694	28738694	Human	1	name
15142667	CV688752	single nucleotide variant	NM_178170.3(NEK8):c.1039G>A (p.Val347Ile)	Nephronophthisis 9 [RCV001126426]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	28737968	28737968	Human	1	name
8573213	CV76339	single nucleotide variant	NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)	NEK8-related disorder [RCV004754289]\|Nephronophthisis 9 [RCV002483083]\|Nephronophthisis 9 [RCV005089461]\|Premature ovarian insufficiency [RCV000766162]\|Renal-hepatic-pancreatic dysplasia 2 [RCV000055629]\|not provided [RCV001699113]	pathogenic\|likely pathogenic\|uncertain significance	17	28741140	28741140	Human	5	name , trait , alternate_id
28905280	CV877095	single nucleotide variant	NM_178170.3(NEK8):c.1076C>T (p.Pro359Leu)	Nephronophthisis 9 [RCV001126427]	uncertain significance	17	28738099	28738099	Human	1	name
28905283	CV877096	single nucleotide variant	NM_178170.3(NEK8):c.1078C>A (p.Pro360Thr)	Nephronophthisis 9 [RCV001126428]	uncertain significance	17	28738101	28738101	Human	1	name
28905286	CV877097	single nucleotide variant	NM_178170.3(NEK8):c.1145C>T (p.Ser382Leu)	Inborn genetic diseases [RCV002556750]\|Nephronophthisis 9 [RCV001126430]\|Nephronophthisis 9 [RCV005005053]	uncertain significance	17	28738168	28738168	Human	2	name
28908993	CV877098	single nucleotide variant	NM_178170.3(NEK8):c.1232T>A (p.Ile411Asn)	Nephronophthisis 9 [RCV001128476]	uncertain significance	17	28738680	28738680	Human	1	name
28908995	CV877099	single nucleotide variant	NM_178170.3(NEK8):c.1252G>A (p.Gly418Ser)	Inborn genetic diseases [RCV003259111]\|Nephronophthisis 9 [RCV001128477]\|Nephronophthisis 9 [RCV002480505]	uncertain significance	17	28738700	28738700	Human	2	name
28896253	CV877100	single nucleotide variant	NM_178170.3(NEK8):c.1416C>G (p.Ser472Arg)	Nephronophthisis 9 [RCV001122777]	uncertain significance	17	28739200	28739200	Human	1	name
28896257	CV877101	single nucleotide variant	NM_178170.3(NEK8):c.1793G>A (p.Arg598His)	Nephronophthisis 9 [RCV001122779]\|Nephronophthisis 9 [RCV005005052]	uncertain significance	17	28741138	28741138	Human	1	name
28896261	CV877102	single nucleotide variant	NM_178170.3(NEK8):c.1795C>G (p.Arg599Gly)	Nephronophthisis 9 [RCV001122780]	uncertain significance	17	28741140	28741140	Human	1	name
28896264	CV877103	single nucleotide variant	NM_178170.3(NEK8):c.1925G>A (p.Arg642Gln)	Nephronophthisis 9 [RCV001122781]	uncertain significance	17	28741446	28741446	Human	1	name
28899225	CV877104	single nucleotide variant	NM_178170.3(NEK8):c.1967G>A (p.Arg656Gln)	Inborn genetic diseases [RCV002556683]\|Nephronophthisis 9 [RCV001123870]\|Nephronophthisis 9 [RCV002482236]	uncertain significance	17	28741488	28741488	Human	2	name
28899228	CV877105	single nucleotide variant	NM_178170.3(NEK8):c.1992C>G (p.His664Gln)	Inborn genetic diseases [RCV004032250]\|Nephronophthisis 9 [RCV001123871]\|Nephronophthisis 9 [RCV002482237]	uncertain significance	17	28741513	28741513	Human	2	name
28899230	CV877106	single nucleotide variant	NM_178170.3(NEK8):c.2068G>A (p.Val690Ile)	Inborn genetic diseases [RCV004032251]\|Nephronophthisis 9 [RCV001123872]\|Nephronophthisis 9 [RCV002480499]	uncertain significance	17	28741976	28741976	Human	2	name
38481180	CV928091	single nucleotide variant	NM_178170.3(NEK8):c.1177A>G (p.Ile393Val)	Nephronophthisis 9 [RCV001217892]	uncertain significance	17	28738200	28738200	Human	1	name
38491892	CV928092	single nucleotide variant	NM_178170.3(NEK8):c.1915A>C (p.Lys639Gln)	Inborn genetic diseases [RCV004960577]\|Nephronophthisis 9 [RCV001223157]\|Nephronophthisis 9 [RCV005021532]	uncertain significance	17	28741436	28741436	Human	2	name
38465260	CV958019	single nucleotide variant	NM_178170.3(NEK8):c.1166C>T (p.Ser389Leu)	Familial cystic renal disease [RCV004789492]\|Nephronophthisis 9 [RCV001247528]\|Nephronophthisis 9 [RCV005005121]	uncertain significance	17	28738189	28738189	Human	2	name
38492118	CV958020	single nucleotide variant	NM_178170.3(NEK8):c.1406G>A (p.Arg469His)	Inborn genetic diseases [RCV005372617]\|Nephronophthisis 9 [RCV001239909]	uncertain significance	17	28739190	28739190	Human	2	name
126758150	CV997394	single nucleotide variant	NM_178170.3(NEK8):c.1523T>A (p.Met508Lys)	Nephronophthisis 9 [RCV001299102]	uncertain significance	17	28740568	28740568	Human	1	name
126757118	CV997395	single nucleotide variant	NM_178170.3(NEK8):c.2072C>T (p.Pro691Leu)	Inborn genetic diseases [RCV002543231]\|Nephronophthisis 9 [RCV001308321]\|Nephronophthisis 9 [RCV002499588]	uncertain significance	17	28741980	28741980	Human	2	name
151789280	CV1450920	deletion	NM_178170.3(NEK8):c.882_885del (p.Cys295fs)	Nephronophthisis 9 [RCV001931248]	pathogenic	17	28737729	28737732	Human	1	name
152979643	CV1675685	microsatellite	NM_178170.3(NEK8):c.301GAG[2] (p.Glu103del)	Renal-hepatic-pancreatic dysplasia 2 [RCV002244275]	uncertain significance	17	28734818	28734820	Human		name
597760151	CV3712320	microsatellite	NM_178170.3(NEK8):c.995_996del (p.Thr332fs)	Nephronophthisis 9 [RCV005018118]	likely pathogenic	17	28737921	28737922	Human		name
41407889	CV962792	microsatellite	NM_178170.3(NEK8):c.322TTC[1] (p.Phe109del)	Renal-hepatic-pancreatic dysplasia 2 [RCV001281189]	likely pathogenic	17	28734839	28734841	Human		name
151795206	CV1393228	microsatellite	NM_178170.3(NEK8):c.1359_1360del (p.His454fs)	Nephronophthisis 9 [RCV001952417]\|Nephronophthisis 9 [RCV002503649]	pathogenic\|likely pathogenic	17	28739140	28739141	Human		name
14693582	CV620578	duplication	NM_178170.3(NEK8):c.1332_1333dup (p.Met445fs)	Nephronophthisis 9 [RCV000779211]	uncertain significance	17	28739114	28739115	Human		name
13509322	CV483111	duplication	NM_178170.3(NEK8):c.2076dup (p.Ter693LeuextTer?)	Renal-hepatic-pancreatic dysplasia 2 [RCV000583089]\|not provided [RCV002293465]	pathogenic\|likely pathogenic	17	28741977	28741978	Human	1	name
126763773	CV997396	deletion	NM_178170.3(NEK8):c.2077del (p.Ter693GluextTer?)	Nephronophthisis 9 [RCV001300836]\|Nephronophthisis 9 [RCV005005143]	uncertain significance	17	28741985	28741985	Human	1	name
150337994	CV1166720	duplication	NM_178170.3(NEK8):c.515dup (p.Pro172_Glu173insTer)	Renal-hepatic-pancreatic dysplasia 2 [RCV001533170]	pathogenic	17	28735264	28735265	Human	1	name
597760549	CV3712364	deletion	NM_178170.3(NEK8):c.2076_2077del (p.Ter693ArgextTer?)	Nephronophthisis 9 [RCV005018164]	uncertain significance	17	28741984	28741985	Human	1	name

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