Nek9 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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160 records found for search term Nek9

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150547711	CV1316159	single nucleotide variant	NM_033116.6(NEK9):c.*13G>A	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV001785437]\|NEK9-related lethal skeletal dysplasia [RCV001785436]\|not provided [RCV004716811]	benign	14	75084551	75084551	Human	2	name , trait
8583957	CV118526	single nucleotide variant	NM_033116.4(NEK9):c.-2000T>C	Lung cancer [RCV000099046]	uncertain significance	14	75128921	75128921	Human		name
40890208	CV975398	single nucleotide variant	NM_033116.6(NEK9):c.874-2A>G	not provided [RCV001268841]	likely pathogenic	14	75113405	75113405	Human		name
126728223	CV1017831	single nucleotide variant	NM_033116.6(NEK9):c.1327+1G>T	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV001332756]	likely pathogenic	14	75107342	75107342	Human	1	name
126730374	CV1021242	single nucleotide variant	NM_033116.6(NEK9):c.762+10C>T	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV001333414]	uncertain significance	14	75117185	75117185	Human	1	name
150332445	CV1169602	single nucleotide variant	NM_033116.6(NEK9):c.454-68A>G	not provided [RCV001536886]	benign	14	75120648	75120648	Human		name
150333073	CV1172640	single nucleotide variant	NM_033116.6(NEK9):c.397+27C>T	not provided [RCV001539303]	benign	14	75124019	75124019	Human		name
150450594	CV1232698	single nucleotide variant	NM_033116.6(NEK9):c.874-46C>T	not provided [RCV001647773]	benign	14	75113449	75113449	Human		name
150436898	CV1249776	single nucleotide variant	NM_033116.6(NEK9):c.454-56A>G	not provided [RCV001665690]	benign	14	75120636	75120636	Human		name
156150244	CV2091040	single nucleotide variant	NM_033116.6(NEK9):c.1840+2T>C	NEK9-related disorder [RCV003943518]\|NEK9-related lethal skeletal dysplasia [RCV005356207]\|not provided [RCV002890628]	likely pathogenic\|uncertain significance	14	75101655	75101655	Human	1	name , trait , alternate_id
156248881	CV2394021	single nucleotide variant	NM_033116.6(NEK9):c.1528+2T>C	Inborn genetic diseases [RCV002768733]	uncertain significance	14	75106500	75106500	Human	1	name
402479451	CV2853323	single nucleotide variant	NM_033116.6(NEK9):c.1327+2T>C	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV003494518]	likely pathogenic	14	75107341	75107341	Human	1	name , alternate_id
617152689	CV4020926	duplication	NM_033116.6(NEK9):c.1576-8dup	not provided [RCV005428679]	likely benign	14	75104004	75104005	Human		name
15162445	CV730956	single nucleotide variant	NM_033116.6(NEK9):c.2442+4A>G	NEK9-related disorder [RCV003955842]\|not provided [RCV000881758]	likely benign	14	75091266	75091266	Human		name , trait , alternate_id
15150263	CV744828	duplication	NM_033116.6(NEK9):c.525-12dup	not provided [RCV000901112]	benign	14	75118938	75118939	Human		name
150459800	CV1236146	single nucleotide variant	NM_033116.6(NEK9):c.2817+66A>G	not provided [RCV001649117]	benign	14	75086952	75086952	Human		name
150446942	CV1250742	single nucleotide variant	NM_033116.6(NEK9):c.1732-31T>C	not provided [RCV001667247]	benign	14	75101796	75101796	Human		name
150467767	CV1255960	single nucleotide variant	NM_033116.6(NEK9):c.1575+94A>G	not provided [RCV001670594]	benign	14	75105856	75105856	Human		name
150483160	CV1261738	single nucleotide variant	NM_033116.6(NEK9):c.2818-53T>G	not provided [RCV001686342]	benign	14	75084739	75084739	Human		name
150448147	CV1261928	single nucleotide variant	NM_033116.6(NEK9):c.2234-50T>G	not provided [RCV001680313]	benign	14	75091528	75091528	Human		name
150474672	CV1263394	single nucleotide variant	NM_033116.6(NEK9):c.524+199T>C	not provided [RCV001684917]	benign	14	75120311	75120311	Human		name
150440676	CV1266952	single nucleotide variant	NM_033116.6(NEK9):c.1731+17G>T	not provided [RCV001690388]	benign	14	75103825	75103825	Human		name
150495560	CV1272662	single nucleotide variant	NM_033116.6(NEK9):c.220-145C>T	not provided [RCV001688585]	benign	14	75124368	75124368	Human		name
408383503	CV3518447	single nucleotide variant	NM_033116.6(NEK9):c.1183-93C>G	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV004759771]	uncertain significance	14	75107580	75107580	Human	1	name
150455439	CV1220460	deletion	NM_033116.6(NEK9):c.1576-171del	not provided [RCV001612553]	benign	14	75104168	75104168	Human		name
150499494	CV1254368	deletion	NM_033116.6(NEK9):c.1528+140del	not provided [RCV001676542]	benign	14	75106362	75106362	Human		name
150495177	CV1266184	single nucleotide variant	NM_033116.6(NEK9):c.1840+222T>C	not provided [RCV001688506]	benign	14	75101435	75101435	Human		name
150444621	CV1266557	single nucleotide variant	NM_033116.6(NEK9):c.2002+166C>G	not provided [RCV001690994]	benign	14	75100826	75100826	Human		name
150445141	CV1269387	single nucleotide variant	NM_033116.6(NEK9):c.1328-120A>G	not provided [RCV001691074]	benign	14	75106822	75106822	Human		name
150473247	CV1272139	single nucleotide variant	NM_033116.6(NEK9):c.2233+204T>G	not provided [RCV001695677]	benign	14	75095168	75095168	Human		name
150462352	CV1272998	single nucleotide variant	NM_033116.6(NEK9):c.2443-146G>T	not provided [RCV001693755]	benign	14	75088787	75088787	Human		name
11522987	CV244069	single nucleotide variant	NEK9, GLY572VAL AND IVS14, G-T, +1	NEVUS COMEDONICUS [RCV000234965]\|Nevus comedonicus [RCV000234965]	pathogenic				Human	1	name
150335104	CV1172639	microsatellite	NM_033116.6(NEK9):c.990-82_990-80del	not provided [RCV001540405]	benign	14	75109957	75109959	Human		name
15164440	CV739345	single nucleotide variant	NM_033116.6(NEK9):c.84G>C (p.Ser28=)	not provided [RCV000904002]	likely benign	14	75126838	75126838	Human		name
405262591	CV3189347	single nucleotide variant	NM_033116.6(NEK9):c.153C>T (p.His51=)	NEK9-related disorder [RCV003896581]	likely benign	14	75126769	75126769	Human		name , trait , alternate_id
15191190	CV739344	single nucleotide variant	NM_033116.6(NEK9):c.222T>C (p.Asp74=)	not provided [RCV000910174]	benign	14	75124221	75124221	Human		name
15118115	CV754164	single nucleotide variant	NM_033116.6(NEK9):c.264G>C (p.Leu88=)	NEK9-related disorder [RCV003933072]\|not provided [RCV000917916]	benign	14	75124179	75124179	Human		name , trait , alternate_id
150330945	CV1172641	single nucleotide variant	NM_033116.6(NEK9):c.324C>T (p.His108=)	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV001780404]\|NEK9-related lethal skeletal dysplasia [RCV001780403]\|not provided [RCV001538383]	benign	14	75124119	75124119	Human	2	name , trait
150431289	CV1243646	single nucleotide variant	NM_033116.6(NEK9):c.300T>A (p.Ile100=)	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV001780426]\|NEK9-related lethal skeletal dysplasia [RCV001780425]\|not provided [RCV001663266]	benign	14	75124143	75124143	Human	2	name , trait
156065159	CV2272481	single nucleotide variant	NM_033116.6(NEK9):c.68G>A (p.Gly23Glu)	Inborn genetic diseases [RCV002823130]	uncertain significance	14	75126854	75126854	Human	1	name
401751239	CV2696273	single nucleotide variant	NM_033116.6(NEK9):c.40A>C (p.Ile14Leu)	Inborn genetic diseases [RCV003253928]	uncertain significance	14	75126882	75126882	Human	1	name
401751242	CV2696274	single nucleotide variant	NM_033116.6(NEK9):c.73T>G (p.Cys25Gly)	Inborn genetic diseases [RCV003253929]	likely benign	14	75126849	75126849	Human	1	name
401751247	CV2696275	single nucleotide variant	NM_033116.6(NEK9):c.82T>G (p.Ser28Ala)	Inborn genetic diseases [RCV003253930]	uncertain significance	14	75126840	75126840	Human	1	name
401751251	CV2696276	single nucleotide variant	NM_033116.6(NEK9):c.85A>G (p.Ser29Gly)	Inborn genetic diseases [RCV003253931]	likely benign	14	75126837	75126837	Human	1	name
401743271	CV2715440	single nucleotide variant	NM_033116.6(NEK9):c.70G>A (p.Gly24Ser)	Inborn genetic diseases [RCV003293039]	uncertain significance	14	75126852	75126852	Human	1	name
401729076	CV2730009	single nucleotide variant	NM_033116.6(NEK9):c.98G>A (p.Ser33Asn)	Inborn genetic diseases [RCV003288808]	uncertain significance	14	75126824	75126824	Human	1	name
401721164	CV2737464	single nucleotide variant	NM_033116.6(NEK9):c.630G>A (p.Thr210=)	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV003314403]\|not provided [RCV004765798]	uncertain significance	14	75118830	75118830	Human	1	name
401902095	CV2810558	single nucleotide variant	NM_033116.6(NEK9):c.861G>A (p.Ser287=)	NEK9-related disorder [RCV003954139]\|not provided [RCV003393492]	likely benign	14	75114215	75114215	Human		name , trait , alternate_id
405261813	CV3194298	single nucleotide variant	NM_033116.6(NEK9):c.360C>T (p.Asp120=)	NEK9-related disorder [RCV003896332]	likely benign	14	75124083	75124083	Human		name , trait , alternate_id
405812833	CV3353525	single nucleotide variant	NM_033116.6(NEK9):c.990G>A (p.Arg330=)	Inborn genetic diseases [RCV004483533]	likely benign	14	75109877	75109877	Human	1	name
597722060	CV3555976	single nucleotide variant	NM_033116.6(NEK9):c.71G>A (p.Gly24Asp)	Inborn genetic diseases [RCV004961619]	uncertain significance	14	75126851	75126851	Human	1	name
15190034	CV725820	single nucleotide variant	NM_033116.6(NEK9):c.486A>G (p.Ser162=)	not provided [RCV000887989]	likely benign	14	75120548	75120548	Human		name
15148754	CV739346	single nucleotide variant	NM_033116.6(NEK9):c.59G>A (p.Ser20Asn)	NEK9-related disorder [RCV003910745]\|not provided [RCV000900787]	likely benign	14	75126863	75126863	Human		name , trait , alternate_id
150520413	CV1289598	single nucleotide variant	NM_033116.6(NEK9):c.219G>C (p.Glu73Asp)	Goldberg-Shprintzen syndrome [RCV001730015]	likely pathogenic	14	75126703	75126703	Human	2	name
155909116	CV2369443	single nucleotide variant	NM_033116.6(NEK9):c.202C>G (p.Leu68Val)	Inborn genetic diseases [RCV002990973]	uncertain significance	14	75126720	75126720	Human	1	name
243059853	CV2412683	single nucleotide variant	NM_033116.6(NEK9):c.207C>G (p.Tyr69Ter)	not provided [RCV003135397]	likely pathogenic	14	75126715	75126715	Human		name
243059857	CV2412692	deletion	NM_033116.6(NEK9):c.664del (p.Leu222fs)	not provided [RCV003135401]	likely pathogenic	14	75117293	75117293	Human		name
329353879	CV2439905	single nucleotide variant	NM_033116.6(NEK9):c.134C>T (p.Ala45Val)	Inborn genetic diseases [RCV003201672]	uncertain significance	14	75126788	75126788	Human	1	name
405275526	CV3196317	single nucleotide variant	NM_033116.6(NEK9):c.1326T>C (p.Thr442=)	NEK9-related disorder [RCV003974173]	likely benign	14	75107344	75107344	Human		name , trait , alternate_id
407526285	CV3454891	single nucleotide variant	NM_033116.6(NEK9):c.107A>G (p.Gln36Arg)	Inborn genetic diseases [RCV004654757]	uncertain significance	14	75126815	75126815	Human	1	name
596945470	CV3547924	single nucleotide variant	NM_033116.6(NEK9):c.1212T>C (p.Gly404=)	not provided [RCV004809255]	likely benign	14	75107458	75107458	Human		name
597722105	CV3555982	single nucleotide variant	NM_033116.6(NEK9):c.265T>G (p.Ser89Ala)	Inborn genetic diseases [RCV004961624]	uncertain significance	14	75124178	75124178	Human	1	name
598231886	CV3990730	single nucleotide variant	NM_033116.6(NEK9):c.170T>G (p.Val57Gly)	Inborn genetic diseases [RCV005381440]	uncertain significance	14	75126752	75126752	Human	1	name
598231894	CV3990734	single nucleotide variant	NM_033116.6(NEK9):c.155A>G (p.Tyr52Cys)	Inborn genetic diseases [RCV005381442]	uncertain significance	14	75126767	75126767	Human	1	name
15160934	CV702992	single nucleotide variant	NM_033116.6(NEK9):c.128G>C (p.Gly43Ala)	not provided [RCV000947580]	benign	14	75126794	75126794	Human		name
15109012	CV714243	single nucleotide variant	NM_033116.6(NEK9):c.1050T>C (p.Tyr350=)	not provided [RCV000960605]	benign	14	75109817	75109817	Human		name
15178498	CV725817	single nucleotide variant	NM_033116.6(NEK9):c.2385A>G (p.Thr795=)	not provided [RCV000885075]	likely benign	14	75091327	75091327	Human		name
15173574	CV725819	single nucleotide variant	NM_033116.6(NEK9):c.2232T>C (p.Thr744=)	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV001336840]\|not provided [RCV000884036]	likely benign\|uncertain significance	14	75095373	75095373	Human	1	name
15137071	CV739341	single nucleotide variant	NM_033116.6(NEK9):c.2271C>T (p.Gly757=)	not provided [RCV000898737]	benign	14	75091441	75091441	Human		name
15118355	CV739342	single nucleotide variant	NM_033116.6(NEK9):c.1236C>T (p.Ala412=)	not provided [RCV000895533]	likely benign	14	75107434	75107434	Human		name
15167910	CV739343	single nucleotide variant	NM_033116.6(NEK9):c.250G>A (p.Asp84Asn)	NEK9-related disorder [RCV003923046]\|not provided [RCV000904745]	likely benign	14	75124193	75124193	Human		name , trait , alternate_id
25315096	CV818308	single nucleotide variant	NM_033116.6(NEK9):c.190G>A (p.Gly64Arg)	NEK9-related lethal skeletal dysplasia [RCV001030010]	uncertain significance	14	75126732	75126732	Human	1	name , trait
152080259	CV1666927	single nucleotide variant	NM_033116.6(NEK9):c.405C>A (p.Asn135Lys)	not provided [RCV002211272]	uncertain significance	14	75121167	75121167	Human		name
9687104	CV171552	duplication	NM_033116.6(NEK9):c.1756dup (p.Thr586fs)	Prostate cancer [RCV000149323]	uncertain significance	14	75101740	75101741	Human	2	name
156382689	CV1878267	deletion	NM_033116.6(NEK9):c.1934del (p.Gly645fs)	not provided [RCV003050614]	pathogenic	14	75101060	75101060	Human		name
156006213	CV2127410	duplication	NM_033116.6(NEK9):c.1794dup (p.Ile599fs)	not provided [RCV002948033]	pathogenic	14	75101702	75101703	Human		name
156118013	CV2232007	single nucleotide variant	NM_033116.6(NEK9):c.986C>T (p.Pro329Leu)	Inborn genetic diseases [RCV002762111]	uncertain significance	14	75110324	75110324	Human	1	name
156364137	CV2262779	single nucleotide variant	NM_033116.6(NEK9):c.828G>C (p.Gln276His)	Inborn genetic diseases [RCV002813278]	uncertain significance	14	75114248	75114248	Human	1	name
156204555	CV2297802	single nucleotide variant	NM_033116.6(NEK9):c.530T>C (p.Ile177Thr)	Inborn genetic diseases [RCV002875053]	uncertain significance	14	75118930	75118930	Human	1	name
11541295	CV244082	single nucleotide variant	NM_033116.6(NEK9):c.500T>C (p.Ile167Thr)	Nevus comedonicus syndrome [RCV000240653]	pathogenic	14	75120534	75120534	Human	2	name
405812758	CV3353485	single nucleotide variant	NM_033116.6(NEK9):c.368C>T (p.Thr123Met)	Inborn genetic diseases [RCV004483493]	uncertain significance	14	75124075	75124075	Human	1	name
405812793	CV3353504	single nucleotide variant	NM_033116.6(NEK9):c.790G>A (p.Val264Met)	Inborn genetic diseases [RCV004483512]	uncertain significance	14	75114286	75114286	Human	1	name
405812808	CV3353512	single nucleotide variant	NM_033116.6(NEK9):c.920T>G (p.Leu307Arg)	Inborn genetic diseases [RCV004483520]	uncertain significance	14	75113357	75113357	Human	1	name
408383501	CV3518446	single nucleotide variant	NM_033116.6(NEK9):c.522T>G (p.His174Gln)	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV004759770]	uncertain significance	14	75120512	75120512	Human	1	name
597722089	CV3555979	single nucleotide variant	NM_033116.6(NEK9):c.337G>A (p.Ala113Thr)	Inborn genetic diseases [RCV004961622]	uncertain significance	14	75124106	75124106	Human	1	name
597722095	CV3555980	single nucleotide variant	NM_033116.6(NEK9):c.379G>A (p.Glu127Lys)	Inborn genetic diseases [RCV004961623]	uncertain significance	14	75124064	75124064	Human	1	name
12742191	CV360064	single nucleotide variant	NM_033116.6(NEK9):c.727G>T (p.Glu243Ter)	not provided [RCV000413100]	pathogenic\|likely pathogenic	14	75117230	75117230	Human		name
12742774	CV360171	single nucleotide variant	NM_033116.6(NEK9):c.908T>C (p.Leu303Pro)	not provided [RCV000414495]	likely pathogenic	14	75113369	75113369	Human		name
598231889	CV3990731	single nucleotide variant	NM_033116.6(NEK9):c.821C>G (p.Ser274Cys)	Inborn genetic diseases [RCV005381441]	uncertain significance	14	75114255	75114255	Human	1	name
598254397	CV3990732	single nucleotide variant	NM_033116.6(NEK9):c.971C>A (p.Ala324Glu)	Inborn genetic diseases [RCV005385496]	uncertain significance	14	75110339	75110339	Human	1	name
598254403	CV3990733	single nucleotide variant	NM_033116.6(NEK9):c.671A>G (p.Gln224Arg)	Inborn genetic diseases [RCV005385497]	uncertain significance	14	75117286	75117286	Human	1	name
40890207	CV975397	deletion	NM_033116.6(NEK9):c.1432del (p.Leu478fs)	not provided [RCV001268840]	pathogenic	14	75106598	75106598	Human		name
126730370	CV1021240	single nucleotide variant	NM_033116.6(NEK9):c.2335C>T (p.Arg779Ter)	Arthrogryposis, perthes disease, and upward gaze palsy [RCV001333413]	pathogenic	14	75091377	75091377	Human		name
126743692	CV1021241	single nucleotide variant	NM_033116.6(NEK9):c.1450C>T (p.Gln484Ter)	Arthrogryposis, perthes disease, and upward gaze palsy [RCV001336839]	pathogenic	14	75106580	75106580	Human		name
150503100	CV1212400	single nucleotide variant	NM_033116.6(NEK9):c.2263G>A (p.Gly755Ser)	not provided [RCV001595275]	benign	14	75091449	75091449	Human		name
150473892	CV1252480	single nucleotide variant	NM_033116.6(NEK9):c.1286G>A (p.Arg429His)	not provided [RCV001671683]	benign	14	75107384	75107384	Human		name
150520414	CV1289599	single nucleotide variant	NM_033116.6(NEK9):c.2101C>T (p.Arg701Trp)	Goldberg-Shprintzen syndrome [RCV001730016]	likely pathogenic	14	75097172	75097172	Human	2	name
152981938	CV1678878	single nucleotide variant	NM_033116.6(NEK9):c.1843C>T (p.Arg615Ter)	not provided [RCV002248268]	pathogenic	14	75101151	75101151	Human		name
156026488	CV2108773	single nucleotide variant	NM_033116.6(NEK9):c.1033C>T (p.Arg345Ter)	not provided [RCV002909866]	pathogenic	14	75109834	75109834	Human		name
156147620	CV2196975	single nucleotide variant	NM_033116.6(NEK9):c.2516A>G (p.Glu839Gly)	Inborn genetic diseases [RCV002641673]	uncertain significance	14	75088568	75088568	Human	1	name
156320574	CV2197350	single nucleotide variant	NM_033116.6(NEK9):c.2146C>T (p.Arg716Cys)	Inborn genetic diseases [RCV002649155]	uncertain significance	14	75097127	75097127	Human	1	name
156029028	CV2205914	single nucleotide variant	NM_033116.6(NEK9):c.2615T>C (p.Leu872Pro)	Inborn genetic diseases [RCV002691437]	uncertain significance	14	75087220	75087220	Human	1	name
156382244	CV2227255	single nucleotide variant	NM_033116.6(NEK9):c.2773A>G (p.Thr925Ala)	Inborn genetic diseases [RCV002722739]\|NEK9-related disorder [RCV004757570]	uncertain significance	14	75087062	75087062	Human	1	name , trait , alternate_id
156240535	CV2245998	single nucleotide variant	NM_033116.6(NEK9):c.2826G>A (p.Met942Ile)	Inborn genetic diseases [RCV002768236]	uncertain significance	14	75084678	75084678	Human	1	name
156189263	CV2289169	single nucleotide variant	NM_033116.6(NEK9):c.1766C>T (p.Thr589Ile)	Inborn genetic diseases [RCV002874141]	uncertain significance	14	75101731	75101731	Human	1	name
156069794	CV2295760	single nucleotide variant	NM_033116.6(NEK9):c.1513G>A (p.Gly505Ser)	Inborn genetic diseases [RCV002868641]	uncertain significance	14	75106517	75106517	Human	1	name
155900794	CV2298004	single nucleotide variant	NM_033116.6(NEK9):c.2239C>T (p.Gln747Ter)	Inborn genetic diseases [RCV002901035]	pathogenic	14	75091473	75091473	Human	1	name
156307706	CV2312399	single nucleotide variant	NM_033116.6(NEK9):c.1387G>C (p.Val463Leu)	Inborn genetic diseases [RCV002898537]	uncertain significance	14	75106643	75106643	Human	1	name
156002745	CV2347718	single nucleotide variant	NM_033116.6(NEK9):c.1739A>T (p.His580Leu)	Inborn genetic diseases [RCV002997125]	uncertain significance	14	75101758	75101758	Human	1	name
155921922	CV2350744	single nucleotide variant	NM_033116.6(NEK9):c.2881G>T (p.Asp961Tyr)	Inborn genetic diseases [RCV002992076]	uncertain significance	14	75084623	75084623	Human	1	name
156133099	CV2365946	single nucleotide variant	NM_033116.6(NEK9):c.2171T>C (p.Val724Ala)	Inborn genetic diseases [RCV002981975]	uncertain significance	14	75097102	75097102	Human	1	name
329374595	CV2430953	single nucleotide variant	NM_033116.6(NEK9):c.2041C>T (p.Arg681Cys)	Inborn genetic diseases [RCV003173497]	uncertain significance	14	75097232	75097232	Human	1	name
329366246	CV2438274	single nucleotide variant	NM_033116.6(NEK9):c.1114C>T (p.Arg372Trp)	Inborn genetic diseases [RCV003207652]	uncertain significance	14	75109753	75109753	Human	1	name
11522808	CV244031	single nucleotide variant	NM_033116.6(NEK9):c.1489C>T (p.Arg497Ter)	NEK9-related lethal skeletal dysplasia [RCV000234925]	pathogenic	14	75106541	75106541	Human	1	name , trait
11522809	CV244032	single nucleotide variant	NM_033116.6(NEK9):c.2042G>A (p.Arg681His)	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV000234928]\|NEK9-related lethal skeletal dysplasia [RCV003987473]	pathogenic\|uncertain significance	14	75097231	75097231	Human	2	name , trait
11522988	CV244070	single nucleotide variant	NM_033116.4(NEK9):c.1817T>C (p.Ile573Thr)	Nevus comedonicus syndrome [RCV000234968]	pathogenic	14	75103855	75103855	Human	2	name
329367586	CV2456935	single nucleotide variant	NM_033116.6(NEK9):c.1959C>G (p.Ile653Met)	Inborn genetic diseases [RCV003208366]	uncertain significance	14	75101035	75101035	Human	1	name
329360401	CV2458720	single nucleotide variant	NM_033116.6(NEK9):c.2881G>A (p.Asp961Asn)	Inborn genetic diseases [RCV003204982]\|NEK9-related disorder [RCV004757581]	uncertain significance	14	75084623	75084623	Human	1	name , trait , alternate_id
329398192	CV2464849	single nucleotide variant	NM_033116.6(NEK9):c.2068C>A (p.Pro690Thr)	Inborn genetic diseases [RCV003220360]	uncertain significance	14	75097205	75097205	Human	1	name
401751957	CV2672633	single nucleotide variant	NM_033116.6(NEK9):c.1850G>A (p.Arg617Gln)	Inborn genetic diseases [RCV003254165]\|NEK9-related disorder [RCV003946472]	uncertain significance	14	75101144	75101144	Human	1	name , trait , alternate_id
401742025	CV2677491	single nucleotide variant	NM_033116.6(NEK9):c.2608C>A (p.Pro870Thr)	Inborn genetic diseases [RCV003241021]	uncertain significance	14	75087227	75087227	Human	1	name
401760686	CV2706050	single nucleotide variant	NM_033116.6(NEK9):c.2709G>C (p.Gln903His)	Inborn genetic diseases [RCV003257305]	uncertain significance	14	75087126	75087126	Human	1	name
401771833	CV2722962	single nucleotide variant	NM_033116.6(NEK9):c.2276G>A (p.Gly759Asp)	Inborn genetic diseases [RCV003304479]	uncertain significance	14	75091436	75091436	Human	1	name
401752577	CV2723282	single nucleotide variant	NM_033116.6(NEK9):c.1799G>A (p.Arg600His)	Inborn genetic diseases [RCV003295881]	uncertain significance	14	75101698	75101698	Human	1	name
401896219	CV2773841	single nucleotide variant	NM_033116.6(NEK9):c.2617A>G (p.Asn873Asp)	Inborn genetic diseases [RCV003373847]	uncertain significance	14	75087218	75087218	Human	1	name
401883387	CV2785590	single nucleotide variant	NM_033116.6(NEK9):c.2423G>A (p.Cys808Tyr)	Inborn genetic diseases [RCV003386095]	uncertain significance	14	75091289	75091289	Human	1	name
401881390	CV2789596	single nucleotide variant	NM_033116.6(NEK9):c.2434C>T (p.Leu812Phe)	Inborn genetic diseases [RCV003385338]	uncertain significance	14	75091278	75091278	Human	1	name
402479443	CV2853321	single nucleotide variant	NM_033116.6(NEK9):c.1367G>A (p.Gly456Asp)	Arthrogryposis, Perthes disease, and upward gaze palsy [RCV003494516]	likely pathogenic	14	75106663	75106663	Human	1	name , alternate_id
405812642	CV3353396	single nucleotide variant	NM_033116.6(NEK9):c.1622G>C (p.Cys541Ser)	Inborn genetic diseases [RCV004483404]	uncertain significance	14	75103951	75103951	Human	1	name
405812664	CV3353408	single nucleotide variant	NM_033116.6(NEK9):c.1784C>T (p.Ser595Phe)	Inborn genetic diseases [RCV004483416]	uncertain significance	14	75101713	75101713	Human	1	name
405812667	CV3353410	single nucleotide variant	NM_033116.6(NEK9):c.1807G>T (p.Ala603Ser)	Inborn genetic diseases [RCV004483418]	uncertain significance	14	75101690	75101690	Human	1	name
405812708	CV3353433	single nucleotide variant	NM_033116.6(NEK9):c.2212A>C (p.Ser738Arg)	Inborn genetic diseases [RCV004483441]	uncertain significance	14	75095393	75095393	Human	1	name
405812714	CV3353436	single nucleotide variant	NM_033116.6(NEK9):c.2272G>A (p.Gly758Ser)	Inborn genetic diseases [RCV004483444]	uncertain significance	14	75091440	75091440	Human	1	name
405813462	CV3353439	single nucleotide variant	NM_033116.6(NEK9):c.2275G>A (p.Gly759Ser)	Inborn genetic diseases [RCV004483447]	likely benign	14	75091437	75091437	Human	1	name
405812729	CV3353469	single nucleotide variant	NM_033116.6(NEK9):c.2659C>A (p.Pro887Thr)	Inborn genetic diseases [RCV004483477]	uncertain significance	14	75087176	75087176	Human	1	name
405812747	CV3353479	single nucleotide variant	NM_033116.6(NEK9):c.2854G>A (p.Glu952Lys)	Inborn genetic diseases [RCV004483487]	uncertain significance	14	75084650	75084650	Human	1	name
407526281	CV3454889	single nucleotide variant	NM_033116.6(NEK9):c.1532G>A (p.Arg511Gln)	Inborn genetic diseases [RCV004654755]	uncertain significance	14	75105993	75105993	Human	1	name
407526282	CV3454890	single nucleotide variant	NM_033116.6(NEK9):c.2707C>A (p.Gln903Lys)	Inborn genetic diseases [RCV004654756]	uncertain significance	14	75087128	75087128	Human	1	name
407501215	CV3495579	single nucleotide variant	NM_033116.6(NEK9):c.2356C>T (p.Arg786Ter)	not provided [RCV004697419]	likely pathogenic	14	75091356	75091356	Human		name
597722010	CV3555969	single nucleotide variant	NM_033116.6(NEK9):c.2440A>G (p.Lys814Glu)	Inborn genetic diseases [RCV004961613]	uncertain significance	14	75091272	75091272	Human	1	name
597722020	CV3555970	single nucleotide variant	NM_033116.6(NEK9):c.1187T>C (p.Met396Thr)	Inborn genetic diseases [RCV004961614]	uncertain significance	14	75107483	75107483	Human	1	name
597722031	CV3555972	single nucleotide variant	NM_033116.6(NEK9):c.1562A>T (p.Tyr521Phe)	Inborn genetic diseases [RCV004961615]	uncertain significance	14	75105963	75105963	Human	1	name
597722041	CV3555973	single nucleotide variant	NM_033116.6(NEK9):c.1010C>T (p.Ala337Val)	Inborn genetic diseases [RCV004961616]	uncertain significance	14	75109857	75109857	Human	1	name
597722045	CV3555974	single nucleotide variant	NM_033116.6(NEK9):c.2816A>C (p.Gln939Pro)	Inborn genetic diseases [RCV004961617]	uncertain significance	14	75087019	75087019	Human	1	name
597722054	CV3555975	single nucleotide variant	NM_033116.6(NEK9):c.1106G>A (p.Cys369Tyr)	Inborn genetic diseases [RCV004961618]	uncertain significance	14	75109761	75109761	Human	1	name
597722071	CV3555977	single nucleotide variant	NM_033116.6(NEK9):c.1617T>G (p.Cys539Trp)	Inborn genetic diseases [RCV004961620]	uncertain significance	14	75103956	75103956	Human	1	name
597722081	CV3555978	single nucleotide variant	NM_033116.6(NEK9):c.2498C>T (p.Ala833Val)	Inborn genetic diseases [RCV004961621]	uncertain significance	14	75088586	75088586	Human	1	name
598231879	CV3990727	single nucleotide variant	NM_033116.6(NEK9):c.2603C>T (p.Ser868Leu)	Inborn genetic diseases [RCV005381438]	uncertain significance	14	75088481	75088481	Human	1	name
598231882	CV3990728	single nucleotide variant	NM_033116.6(NEK9):c.1342T>C (p.Tyr448His)	Inborn genetic diseases [RCV005381439]	uncertain significance	14	75106688	75106688	Human	1	name
598254392	CV3990729	single nucleotide variant	NM_033116.6(NEK9):c.1930G>C (p.Gly644Arg)	Inborn genetic diseases [RCV005385495]	uncertain significance	14	75101064	75101064	Human	1	name
598231898	CV3990735	single nucleotide variant	NM_033116.6(NEK9):c.1150G>A (p.Val384Ile)	Inborn genetic diseases [RCV005381443]	uncertain significance	14	75109717	75109717	Human	1	name
598254408	CV3990736	single nucleotide variant	NM_033116.6(NEK9):c.1372A>T (p.Met458Leu)	Inborn genetic diseases [RCV005385498]	uncertain significance	14	75106658	75106658	Human	1	name
598254415	CV3990737	single nucleotide variant	NM_033116.6(NEK9):c.2511A>C (p.Glu837Asp)	Inborn genetic diseases [RCV005385499]	uncertain significance	14	75088573	75088573	Human	1	name
14706644	CV610565	single nucleotide variant	NM_033116.6(NEK9):c.1505A>G (p.Tyr502Cys)	Retinal disorder [RCV000845273]	likely benign	14	75106525	75106525	Human	4	name
15161275	CV725816	single nucleotide variant	NM_033116.6(NEK9):c.2886A>C (p.Leu962Phe)	not provided [RCV000881542]	benign	14	75084618	75084618	Human		name
15198075	CV725818	single nucleotide variant	NM_033116.6(NEK9):c.2357G>A (p.Arg786Gln)	not provided [RCV000890249]	benign\|likely benign	14	75091355	75091355	Human		name
15150258	CV739340	single nucleotide variant	NM_033116.6(NEK9):c.2482C>A (p.Pro828Thr)	NEK9-related disorder [RCV004757315]\|not provided [RCV000901111]	benign	14	75088602	75088602	Human		name , trait , alternate_id
40814910	CV971001	single nucleotide variant	NM_033116.6(NEK9):c.1126G>A (p.Ala376Thr)	NEK9-related lethal skeletal dysplasia [RCV001262353]	likely benign	14	75109741	75109741	Human	1	name , trait
152979614	CV1675664	microsatellite	NM_033116.6(NEK9):c.326ACA[1] (p.Asn110del)	Congenital omphalocele [RCV002244254]	uncertain significance	14	75124112	75124114	Human		name
404980777	CV2850610	inversion	NM_033116.6(NEK9):c.2658_2659inv (p.Pro887Thr)	not provided [RCV003488141]	uncertain significance	14	75087176	75087177	Human		name

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