Nans Variant Search Result - Rat Genome Database

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177 records found for search term Nans

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150515427	CV1227554	single nucleotide variant	NM_018946.4(NANS):c.-21T>G	not provided [RCV001638827]	benign	9	98056788	98056788	Human		name
152081528	CV1546771	single nucleotide variant	NM_018946.4(NANS):c.348+7C>T	not provided [RCV002130876]	likely benign	9	98061004	98061004	Human		name
156417000	CV1919210	single nucleotide variant	NM_018946.4(NANS):c.870+3G>A	not provided [RCV002610476]	uncertain significance	9	98081085	98081085	Human		name
155951954	CV1922012	single nucleotide variant	NM_018946.4(NANS):c.449-9A>C	not provided [RCV002616272]	likely benign	9	98078184	98078184	Human		name
155979398	CV2028756	deletion	NM_018946.4(NANS):c.133-5del	not provided [RCV002755256]	likely benign	9	98060776	98060776	Human		name
156174607	CV2038068	single nucleotide variant	NM_018946.4(NANS):c.133-5T>G	not provided [RCV002741965]	uncertain significance	9	98060777	98060777	Human		name
11345020	CV236884	single nucleotide variant	NM_018946.4(NANS):c.448+1G>A	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224899]	pathogenic	9	98077018	98077018	Human	1	name , alternate_id
405194341	CV2985953	single nucleotide variant	NM_018946.4(NANS):c.349-2A>G	not provided [RCV003706757]	likely pathogenic	9	98076916	98076916	Human		name
405203278	CV3052869	single nucleotide variant	NM_018946.4(NANS):c.349-9T>C	not provided [RCV003731008]	likely benign	9	98076909	98076909	Human		name
405226035	CV3058457	single nucleotide variant	NM_018946.4(NANS):c.870+8C>T	not provided [RCV003733963]	likely benign	9	98081090	98081090	Human		name
402468787	CV3174596	single nucleotide variant	NM_018946.4(NANS):c.449-6A>G	not provided [RCV003873706]	likely benign	9	98078187	98078187	Human		name
597970248	CV3750188	single nucleotide variant	NM_018946.4(NANS):c.132+7C>T	not provided [RCV005084129]	likely benign	9	98056947	98056947	Human		name
15185577	CV730659	single nucleotide variant	NM_018946.4(NANS):c.870+7C>G	NANS-related disorder [RCV003910491]\|not provided [RCV000886734]	benign	9	98081089	98081089	Human	1	name , trait , alternate_id
15180855	CV779440	single nucleotide variant	NM_018946.4(NANS):c.870+4T>C	not provided [RCV000974252]	benign	9	98081086	98081086	Human		name
15112001	CV787818	single nucleotide variant	NM_018946.4(NANS):c.871-4A>G	not provided [RCV000977744]	likely benign	9	98082842	98082842	Human		name
150333521	CV1172028	single nucleotide variant	NM_018946.4(NANS):c.348+81C>A	not provided [RCV001539538]	benign	9	98061078	98061078	Human		name
150492781	CV1268307	single nucleotide variant	NM_018946.4(NANS):c.870+53A>G	not provided [RCV001688039]	benign	9	98081135	98081135	Human		name
152082273	CV1525128	single nucleotide variant	NM_018946.4(NANS):c.348+18C>T	not provided [RCV002130970]	likely benign	9	98061015	98061015	Human		name
152979546	CV1676594	single nucleotide variant	NM_018946.4(NANS):c.133-12T>A	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV002246188]	pathogenic	9	98060770	98060770	Human	1	name , alternate_id
156410366	CV1958342	single nucleotide variant	NM_018946.4(NANS):c.132+20G>A	not provided [RCV002587128]	likely benign	9	98056960	98056960	Human		name
156374085	CV1963211	single nucleotide variant	NM_018946.4(NANS):c.348+17T>C	not provided [RCV002582652]	likely benign	9	98061014	98061014	Human		name
155901025	CV1975639	single nucleotide variant	NM_018946.4(NANS):c.133-17C>T	not provided [RCV002613386]	likely benign	9	98060765	98060765	Human		name
156139090	CV2006521	single nucleotide variant	NM_018946.4(NANS):c.348+17T>A	not provided [RCV002663500]	likely benign	9	98061014	98061014	Human		name
156252893	CV2041140	single nucleotide variant	NM_018946.4(NANS):c.870+13G>A	not provided [RCV002806072]	likely benign	9	98081095	98081095	Human		name
156300096	CV2075851	single nucleotide variant	NM_018946.4(NANS):c.448+17T>A	not provided [RCV002857127]	likely benign	9	98077034	98077034	Human		name
156140614	CV2082299	duplication	NM_018946.4(NANS):c.603+19dup	not provided [RCV002871969]	benign	9	98078361	98078362	Human		name
405220636	CV2884303	duplication	NM_018946.4(NANS):c.132+17dup	not provided [RCV003553829]	likely benign	9	98056954	98056955	Human		name
402482462	CV2940907	single nucleotide variant	NM_018946.4(NANS):c.603+12G>T	not provided [RCV003659769]	likely benign	9	98078359	98078359	Human		name
405092265	CV3164060	single nucleotide variant	NM_018946.4(NANS):c.132+10C>A	not provided [RCV003852375]	likely benign	9	98056950	98056950	Human		name
597830733	CV3743271	single nucleotide variant	NM_018946.4(NANS):c.349-11G>A	not provided [RCV005062279]	likely benign	9	98076907	98076907	Human		name
597971246	CV3802495	duplication	NM_018946.4(NANS):c.133-13dup	not provided [RCV005142093]	likely benign	9	98060767	98060768	Human		name
597833215	CV3831481	single nucleotide variant	NM_018946.4(NANS):c.870+16C>T	not provided [RCV005170683]	likely benign	9	98081098	98081098	Human		name
150461336	CV1234766	single nucleotide variant	NM_018946.4(NANS):c.133-124G>A	not provided [RCV001649348]	benign	9	98060658	98060658	Human		name
150493260	CV1238634	single nucleotide variant	NM_018946.4(NANS):c.133-224T>A	not provided [RCV001655178]	benign	9	98060558	98060558	Human		name
150437259	CV1262276	single nucleotide variant	NM_018946.4(NANS):c.871-121A>G	not provided [RCV001678634]	benign	9	98082725	98082725	Human		name
150437435	CV1262305	single nucleotide variant	NM_018946.4(NANS):c.870+296C>A	not provided [RCV001678663]	benign	9	98081378	98081378	Human		name
28901473	CV859772	deletion	NM_018946.4(NANS):c.449-9_449-5del	not provided [RCV001093090]	pathogenic	9	98078184	98078188	Human		name
21070032	CV796343	single nucleotide variant	NM_018946.4(NANS):c.1A>G (p.Met1Val)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV002226750]\|not provided [RCV000999186]	likely pathogenic	9	98056809	98056809	Human	1	name , alternate_id
150443127	CV1232532	single nucleotide variant	NM_018946.4(NANS):c.102C>T (p.Asp34=)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV001779276]\|not provided [RCV001645500]	benign	9	98056910	98056910	Human	1	name , alternate_id
150479976	CV1239481	single nucleotide variant	NM_018946.4(NANS):c.153T>C (p.Ala51=)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV001779285]\|not provided [RCV001652644]	benign	9	98060802	98060802	Human	1	name , alternate_id
151858284	CV1406336	deletion	NM_018946.4(NANS):c.92del (p.Gly31fs)	not provided [RCV001958887]	pathogenic	9	98056898	98056898	Human		name
152160008	CV1642336	single nucleotide variant	NM_018946.4(NANS):c.240G>A (p.Thr80=)	not provided [RCV002103621]	likely benign	9	98060889	98060889	Human		name
152115105	CV1659751	single nucleotide variant	NM_018946.4(NANS):c.273C>T (p.Ser91=)	not provided [RCV002080786]	likely benign	9	98060922	98060922	Human		name
156191338	CV2149929	single nucleotide variant	NM_018946.4(NANS):c.147T>C (p.Asp49=)	not provided [RCV003006012]	likely benign	9	98060796	98060796	Human		name
15136658	CV767564	single nucleotide variant	NM_018946.4(NANS):c.129C>T (p.Ala43=)	not provided [RCV000943113]	benign	9	98056937	98056937	Human		name
15174824	CV767565	single nucleotide variant	NM_018946.4(NANS):c.219G>A (p.Ser73=)	not provided [RCV000928526]	likely benign	9	98060868	98060868	Human		name
15142379	CV783506	single nucleotide variant	NM_018946.4(NANS):c.267G>A (p.Glu89=)	not provided [RCV000983143]	likely benign	9	98060916	98060916	Human		name
152157869	CV1541864	single nucleotide variant	NM_018946.4(NANS):c.558C>T (p.Ser186=)	not provided [RCV002103221]	likely benign	9	98078302	98078302	Human		name
152114859	CV1552479	single nucleotide variant	NM_018946.4(NANS):c.666G>A (p.Ala222=)	not provided [RCV002153524]	likely benign	9	98080878	98080878	Human		name
152172026	CV1575698	single nucleotide variant	NM_018946.4(NANS):c.567G>A (p.Pro189=)	not provided [RCV002183702]	likely benign	9	98078311	98078311	Human		name
152106794	CV1591797	single nucleotide variant	NM_018946.4(NANS):c.354A>G (p.Ala118=)	not provided [RCV002214921]	likely benign	9	98076923	98076923	Human		name
152027944	CV1607569	single nucleotide variant	NM_018946.4(NANS):c.804T>G (p.Leu268=)	NANS-related disorder [RCV003978636]\|not provided [RCV002105066]	likely benign	9	98081016	98081016	Human	1	name , trait , alternate_id
152072334	CV1633944	single nucleotide variant	NM_018946.4(NANS):c.303C>T (p.Tyr101=)	not provided [RCV002191948]	likely benign	9	98060952	98060952	Human		name
152072634	CV1657238	single nucleotide variant	NM_018946.4(NANS):c.771A>G (p.Gly257=)	NANS-related disorder [RCV003978574]\|not provided [RCV002210181]	likely benign	9	98080983	98080983	Human	1	name , trait , alternate_id
152979545	CV1676593	deletion	NM_018946.4(NANS):c.207del (p.Arg69fs)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV002246187]	likely pathogenic	9	98060855	98060855	Human	1	name , alternate_id
156403548	CV1901687	single nucleotide variant	NM_018946.4(NANS):c.492C>G (p.Thr164=)	not provided [RCV002585235]	likely benign	9	98078236	98078236	Human		name
156386779	CV1986603	single nucleotide variant	NM_018946.4(NANS):c.753G>A (p.Ser251=)	not provided [RCV002634665]	likely benign	9	98080965	98080965	Human		name
155914365	CV2008048	single nucleotide variant	NM_018946.4(NANS):c.721T>C (p.Leu241=)	not provided [RCV002681947]	likely benign	9	98080933	98080933	Human		name
156197445	CV2014559	single nucleotide variant	NM_018946.4(NANS):c.321C>T (p.Ile107=)	not provided [RCV002700161]	likely benign	9	98060970	98060970	Human		name
156069113	CV2032469	single nucleotide variant	NM_018946.4(NANS):c.32G>T (p.Arg11Leu)	not provided [RCV002760265]	uncertain significance	9	98056840	98056840	Human		name
155940927	CV2119841	single nucleotide variant	NM_018946.4(NANS):c.52C>G (p.Pro18Ala)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV005429091]\|not provided [RCV002971279]	uncertain significance\|not provided	9	98056860	98056860	Human	1	name , alternate_id
156200047	CV2237650	single nucleotide variant	NM_018946.4(NANS):c.98T>G (p.Leu33Arg)	Inborn genetic diseases [RCV002743380]	uncertain significance	9	98056906	98056906	Human	1	name
405211878	CV2921050	single nucleotide variant	NM_018946.4(NANS):c.792G>A (p.Arg264=)	not provided [RCV003567169]	likely benign	9	98081004	98081004	Human		name
405153200	CV2949182	single nucleotide variant	NM_018946.4(NANS):c.564C>T (p.Tyr188=)	not provided [RCV003674082]	likely benign	9	98078308	98078308	Human		name
405138907	CV3125500	single nucleotide variant	NM_018946.4(NANS):c.678C>T (p.Ala226=)	not provided [RCV003816607]	likely benign	9	98080890	98080890	Human		name
405063995	CV3148537	single nucleotide variant	NM_018946.4(NANS):c.906G>A (p.Pro302=)	not provided [RCV003850493]	likely benign	9	98082881	98082881	Human		name
405245404	CV3161814	single nucleotide variant	NM_018946.4(NANS):c.333C>T (p.Ala111=)	not provided [RCV003868527]	likely benign	9	98060982	98060982	Human		name
405252913	CV3178141	single nucleotide variant	NM_018946.4(NANS):c.576T>C (p.Pro192=)	not provided [RCV003870921]	likely benign	9	98078320	98078320	Human		name
405270693	CV3212088	single nucleotide variant	NM_018946.4(NANS):c.924A>G (p.Thr308=)	NANS-related disorder [RCV003949462]	likely benign	9	98082899	98082899	Human		name , trait , alternate_id
405791452	CV3335376	single nucleotide variant	NM_018946.4(NANS):c.95A>C (p.Asp32Ala)	Inborn genetic diseases [RCV004474138]	uncertain significance	9	98056903	98056903	Human	1	name
597905955	CV3738666	single nucleotide variant	NM_018946.4(NANS):c.582C>T (p.Asp194=)	not provided [RCV005072900]	likely benign	9	98078326	98078326	Human		name
597927569	CV3788696	single nucleotide variant	NM_018946.4(NANS):c.327C>T (p.Phe109=)	not provided [RCV005131174]	likely benign	9	98060976	98060976	Human		name
597862465	CV3813905	single nucleotide variant	NM_018946.4(NANS):c.429G>A (p.Leu143=)	not provided [RCV005146974]	likely benign	9	98076998	98076998	Human		name
597830981	CV3820175	single nucleotide variant	NM_018946.4(NANS):c.373C>T (p.Leu125=)	not provided [RCV005169953]	likely benign	9	98076942	98076942	Human		name
597966588	CV3859153	single nucleotide variant	NM_018946.4(NANS):c.978C>T (p.Asp326=)	not provided [RCV005194548]	likely benign	9	98082953	98082953	Human		name
617154418	CV4022554	single nucleotide variant	NM_018946.4(NANS):c.70G>A (p.Glu24Lys)	not provided [RCV005429911]	uncertain significance	9	98056878	98056878	Human		name
15159940	CV737263	single nucleotide variant	NM_018946.4(NANS):c.53C>T (p.Pro18Leu)	NANS-related disorder [RCV003968276]\|not provided [RCV000903043]	likely benign	9	98056861	98056861	Human	1	name , trait , alternate_id
15149522	CV737264	single nucleotide variant	NM_018946.4(NANS):c.306C>T (p.Ala102=)	not provided [RCV000900951]	likely benign	9	98060955	98060955	Human		name
15116133	CV737267	single nucleotide variant	NM_018946.4(NANS):c.684G>A (p.Val228=)	not provided [RCV000895147]	benign\|likely benign	9	98080896	98080896	Human		name
15116085	CV751866	single nucleotide variant	NM_018946.4(NANS):c.744T>C (p.Ser248=)	NANS-related disorder [RCV003970450]\|not provided [RCV000917562]	benign\|likely benign	9	98080956	98080956	Human	1	name , trait , alternate_id
15162397	CV751867	single nucleotide variant	NM_018946.4(NANS):c.963C>A (p.Gly321=)	not provided [RCV000925882]	likely benign	9	98082938	98082938	Human		name
15106410	CV767566	single nucleotide variant	NM_018946.4(NANS):c.366G>C (p.Leu122=)	not provided [RCV000937773]	likely benign	9	98076935	98076935	Human		name
150471958	CV1259218	single nucleotide variant	NM_018946.4(NANS):c.204G>C (p.Glu68Asp)	not provided [RCV001684463]	benign	9	98060853	98060853	Human		name
151867670	CV1338214	single nucleotide variant	NM_018946.4(NANS):c.218C>G (p.Ser73Trp)	not provided [RCV001884738]	uncertain significance	9	98060867	98060867	Human		name
151755702	CV1365557	single nucleotide variant	NM_018946.4(NANS):c.244G>C (p.Gly82Arg)	not provided [RCV001872699]	uncertain significance	9	98060893	98060893	Human		name
151831283	CV1377892	single nucleotide variant	NM_018946.4(NANS):c.104T>C (p.Val35Ala)	not provided [RCV002014332]	uncertain significance	9	98056912	98056912	Human		name
151731482	CV1454213	single nucleotide variant	NM_018946.4(NANS):c.182A>G (p.Lys61Arg)	not provided [RCV001967157]	uncertain significance	9	98060831	98060831	Human		name
151854459	CV1473605	single nucleotide variant	NM_018946.4(NANS):c.211T>C (p.Tyr71His)	not provided [RCV001904511]	uncertain significance	9	98060860	98060860	Human		name
152068176	CV1592365	single nucleotide variant	NM_018946.4(NANS):c.1029C>T (p.Asp343=)	not provided [RCV002168946]	likely benign	9	98083004	98083004	Human		name
156063149	CV1877805	single nucleotide variant	NM_018946.4(NANS):c.244G>A (p.Gly82Arg)	not provided [RCV003037331]	uncertain significance	9	98060893	98060893	Human		name
156089992	CV1919696	single nucleotide variant	NM_018946.4(NANS):c.191G>A (p.Arg64Gln)	not provided [RCV002591877]	uncertain significance	9	98060840	98060840	Human		name
156169072	CV1930105	single nucleotide variant	NM_018946.4(NANS):c.122G>T (p.Arg41Leu)	not provided [RCV002624644]	uncertain significance	9	98056930	98056930	Human		name
156129473	CV1962632	single nucleotide variant	NM_018946.4(NANS):c.190C>T (p.Arg64Trp)	not provided [RCV002572172]	uncertain significance	9	98060839	98060839	Human		name
156406578	CV1963680	single nucleotide variant	NM_018946.4(NANS):c.277G>A (p.Asp93Asn)	not provided [RCV002585952]	uncertain significance	9	98060926	98060926	Human		name
156346295	CV1970548	single nucleotide variant	NM_018946.4(NANS):c.1065A>G (p.Lys355=)	not provided [RCV002601541]	likely benign	9	98083040	98083040	Human		name
155918944	CV1981131	single nucleotide variant	NM_018946.4(NANS):c.280C>G (p.Gln94Glu)	not provided [RCV002614456]	uncertain significance	9	98060929	98060929	Human		name
156335522	CV1988242	single nucleotide variant	NM_018946.4(NANS):c.239C>T (p.Thr80Met)	Inborn genetic diseases [RCV004065943]\|not provided [RCV002631163]	uncertain significance	9	98060888	98060888	Human	1	name
156230564	CV2043513	single nucleotide variant	NM_018946.4(NANS):c.1035C>A (p.Ile345=)	not provided [RCV002805297]	likely benign	9	98083010	98083010	Human		name
156124115	CV2112247	single nucleotide variant	NM_018946.4(NANS):c.278A>C (p.Asp93Ala)	not provided [RCV002927938]	uncertain significance	9	98060927	98060927	Human		name
156224412	CV2144391	single nucleotide variant	NM_018946.4(NANS):c.137G>A (p.Cys46Tyr)	not provided [RCV003007506]	uncertain significance	9	98060786	98060786	Human		name
156178766	CV2298323	single nucleotide variant	NM_018946.4(NANS):c.207G>T (p.Arg69Ser)	Inborn genetic diseases [RCV002891844]	uncertain significance	9	98060856	98060856	Human	1	name
11350834	CV236883	duplication	NM_018946.4(NANS):c.389dup (p.Lys131fs)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224496]	pathogenic	9	98076953	98076954	Human	1	name , alternate_id
401723386	CV2672115	single nucleotide variant	NM_018946.4(NANS):c.200T>C (p.Leu67Ser)	not provided [RCV003239016]	likely pathogenic\|uncertain significance	9	98060849	98060849	Human		name
405169476	CV2854181	single nucleotide variant	NM_018946.4(NANS):c.1014T>A (p.Thr338=)	not provided [RCV003542049]	likely benign	9	98082989	98082989	Human		name
405222185	CV2908355	single nucleotide variant	NM_018946.4(NANS):c.1056T>C (p.Asn352=)	not provided [RCV003568604]	likely benign	9	98083031	98083031	Human		name
405196478	CV3138716	single nucleotide variant	NM_018946.4(NANS):c.131A>C (p.Lys44Thr)	not provided [RCV003821532]	uncertain significance	9	98056939	98056939	Human		name
407520725	CV3447928	single nucleotide variant	NM_018946.4(NANS):c.113G>A (p.Arg38His)	Inborn genetic diseases [RCV004652282]	uncertain significance	9	98056921	98056921	Human	1	name
597837010	CV3736498	single nucleotide variant	NM_018946.4(NANS):c.256C>T (p.Arg86Ter)	not provided [RCV005064171]	pathogenic	9	98060905	98060905	Human		name
597924134	CV3808604	duplication	NM_018946.4(NANS):c.655dup (p.Thr219fs)	not provided [RCV005156118]	pathogenic	9	98080864	98080865	Human		name
15193764	CV723680	single nucleotide variant	NM_018946.4(NANS):c.1045T>C (p.Leu349=)	not provided [RCV000889036]	benign	9	98083020	98083020	Human		name
126727094	CV1017233	deletion	NM_018946.4(NANS):c.1070del (p.Ile357fs)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV001332292]	pathogenic	9	98083045	98083045	Human		name , alternate_id
151661729	CV1332737	single nucleotide variant	NM_018946.4(NANS):c.476T>G (p.Met159Arg)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV001836674]	likely pathogenic	9	98078220	98078220	Human	1	name , alternate_id
151781329	CV1341873	single nucleotide variant	NM_018946.4(NANS):c.811C>T (p.Arg271Cys)	Inborn genetic diseases [RCV004041242]\|not provided [RCV001897267]	likely benign\|uncertain significance	9	98081023	98081023	Human	1	name
151848223	CV1353013	single nucleotide variant	NM_018946.4(NANS):c.356T>G (p.Val119Gly)	Inborn genetic diseases [RCV005374872]\|not provided [RCV001922416]	uncertain significance	9	98076925	98076925	Human	1	name
151792376	CV1354307	single nucleotide variant	NM_018946.4(NANS):c.602C>T (p.Ser201Leu)	Inborn genetic diseases [RCV002547923]\|not provided [RCV001876631]	uncertain significance	9	98078346	98078346	Human	1	name
151866625	CV1358609	single nucleotide variant	NM_018946.4(NANS):c.903T>G (p.Ile301Met)	Inborn genetic diseases [RCV002562790]\|not provided [RCV001939236]	uncertain significance	9	98082878	98082878	Human	1	name
151773006	CV1402762	single nucleotide variant	NM_018946.4(NANS):c.751T>C (p.Ser251Pro)	not provided [RCV001896525]	uncertain significance	9	98080963	98080963	Human		name
151725444	CV1418213	single nucleotide variant	NM_018946.4(NANS):c.940G>A (p.Val314Met)	Inborn genetic diseases [RCV004041591]\|not provided [RCV001891658]	uncertain significance	9	98082915	98082915	Human	1	name
151825364	CV1425273	single nucleotide variant	NM_018946.4(NANS):c.886G>C (p.Val296Leu)	not provided [RCV001901278]	uncertain significance	9	98082861	98082861	Human		name
151760308	CV1448476	single nucleotide variant	NM_018946.4(NANS):c.791G>A (p.Arg264Gln)	Inborn genetic diseases [RCV002562167]\|not provided [RCV001949059]	uncertain significance	9	98081003	98081003	Human	1	name
151847754	CV1450658	single nucleotide variant	NM_018946.4(NANS):c.451C>T (p.Arg151Cys)	not provided [RCV001957565]	uncertain significance	9	98078195	98078195	Human		name
151824395	CV1452940	single nucleotide variant	NM_018946.4(NANS):c.803T>C (p.Leu268Pro)	not provided [RCV002030204]	uncertain significance	9	98081015	98081015	Human		name
151760129	CV1459376	single nucleotide variant	NM_018946.4(NANS):c.752C>T (p.Ser251Leu)	NANS-related disorder [RCV003941177]\|not provided [RCV002044174]	likely benign\|uncertain significance	9	98080964	98080964	Human	1	name , trait , alternate_id
151870972	CV1476956	single nucleotide variant	NM_018946.4(NANS):c.758C>T (p.Ser253Leu)	not provided [RCV001906471]	uncertain significance	9	98080970	98080970	Human		name
151741877	CV1478092	single nucleotide variant	NM_018946.4(NANS):c.635T>C (p.Ile212Thr)	not provided [RCV002005885]	uncertain significance	9	98080847	98080847	Human		name
151794429	CV1482719	single nucleotide variant	NM_018946.4(NANS):c.464T>C (p.Ile155Thr)	not provided [RCV002047408]	uncertain significance	9	98078208	98078208	Human		name
151882358	CV1484577	single nucleotide variant	NM_018946.4(NANS):c.452G>T (p.Arg151Leu)	Inborn genetic diseases [RCV002560748]\|not provided [RCV001941276]	likely benign\|uncertain significance	9	98078196	98078196	Human	1	name
151813128	CV1498336	single nucleotide variant	NM_018946.4(NANS):c.314T>C (p.Val105Ala)	not provided [RCV001954024]	uncertain significance	9	98060963	98060963	Human		name
151795962	CV1505570	single nucleotide variant	NM_018946.4(NANS):c.755C>T (p.Ala252Val)	not provided [RCV002047544]	uncertain significance	9	98080967	98080967	Human		name
152119868	CV1654836	single nucleotide variant	NM_018946.4(NANS):c.700G>A (p.Val234Met)	not provided [RCV002216631]	likely benign	9	98080912	98080912	Human		name
152980488	CV1678639	single nucleotide variant	NM_018946.4(NANS):c.607T>C (p.Tyr203His)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV002247147]	likely pathogenic	9	98080819	98080819	Human	1	name , alternate_id
155749335	CV1775509	single nucleotide variant	NM_018946.4(NANS):c.410C>T (p.Thr137Ile)	not provided [RCV002304542]	uncertain significance	9	98076979	98076979	Human		name
156362325	CV1899112	single nucleotide variant	NM_018946.4(NANS):c.829A>G (p.Thr277Ala)	not provided [RCV003091794]	uncertain significance	9	98081041	98081041	Human		name
156369553	CV1920023	single nucleotide variant	NM_018946.4(NANS):c.595G>A (p.Val199Ile)	Inborn genetic diseases [RCV004068924]\|not provided [RCV002603067]	uncertain significance	9	98078339	98078339	Human	1	name
156353706	CV1933053	single nucleotide variant	NM_018946.4(NANS):c.905C>T (p.Pro302Leu)	not provided [RCV002651099]	uncertain significance	9	98082880	98082880	Human		name
156442047	CV1941715	single nucleotide variant	NM_018946.4(NANS):c.800G>A (p.Arg267His)	Inborn genetic diseases [RCV005377328]\|not provided [RCV003112384]	uncertain significance	9	98081012	98081012	Human	1	name
156390448	CV1964796	single nucleotide variant	NM_018946.4(NANS):c.790C>T (p.Arg264Trp)	not provided [RCV002583820]	uncertain significance	9	98081002	98081002	Human		name
156419495	CV1967266	single nucleotide variant	NM_018946.4(NANS):c.559G>A (p.Ala187Thr)	not provided [RCV002612732]	uncertain significance	9	98078303	98078303	Human		name
156015987	CV1993259	single nucleotide variant	NM_018946.4(NANS):c.622C>G (p.Pro208Ala)	not provided [RCV002636467]	uncertain significance	9	98080834	98080834	Human		name
156050663	CV2006735	single nucleotide variant	NM_018946.4(NANS):c.307G>A (p.Glu103Lys)	not provided [RCV002659355]	uncertain significance	9	98060956	98060956	Human		name
155908396	CV2027786	single nucleotide variant	NM_018946.4(NANS):c.484A>G (p.Met162Val)	not provided [RCV002726620]	uncertain significance	9	98078228	98078228	Human		name
156186603	CV2033888	single nucleotide variant	NM_018946.4(NANS):c.667A>G (p.Ile223Val)	not provided [RCV002765781]	uncertain significance	9	98080879	98080879	Human		name
155902260	CV2043676	single nucleotide variant	NM_018946.4(NANS):c.671C>G (p.Ser224Cys)	not provided [RCV002771051]	uncertain significance	9	98080883	98080883	Human		name
155936873	CV2071450	single nucleotide variant	NM_018946.4(NANS):c.344A>T (p.Asp115Val)	not provided [RCV002839141]	uncertain significance	9	98060993	98060993	Human		name
156227989	CV2121901	single nucleotide variant	NM_018946.4(NANS):c.379G>A (p.Val127Ile)	not provided [RCV002958399]	uncertain significance	9	98076948	98076948	Human		name
155976156	CV2151108	single nucleotide variant	NM_018946.4(NANS):c.395T>C (p.Val132Ala)	Inborn genetic diseases [RCV004960905]\|not provided [RCV003033659]	uncertain significance	9	98076964	98076964	Human	1	name
155958599	CV2172913	single nucleotide variant	NM_018946.4(NANS):c.638G>A (p.Gly213Glu)	not provided [RCV003032825]	uncertain significance	9	98080850	98080850	Human		name
156119199	CV2174778	single nucleotide variant	NM_018946.4(NANS):c.535T>G (p.Phe179Val)	not provided [RCV003055400]	uncertain significance	9	98078279	98078279	Human		name
155959872	CV2194039	single nucleotide variant	NM_018946.4(NANS):c.778G>A (p.Ala260Thr)	Inborn genetic diseases [RCV002686508]	uncertain significance	9	98080990	98080990	Human	1	name
155967001	CV2216780	single nucleotide variant	NM_018946.4(NANS):c.592C>T (p.Arg198Trp)	Inborn genetic diseases [RCV002687158]	uncertain significance	9	98078336	98078336	Human	1	name
156255193	CV2219632	single nucleotide variant	NM_018946.4(NANS):c.457A>G (p.Met153Val)	Inborn genetic diseases [RCV002702687]	uncertain significance	9	98078201	98078201	Human	1	name
156025862	CV2242288	single nucleotide variant	NM_018946.4(NANS):c.934C>T (p.Leu312Phe)	Inborn genetic diseases [RCV002757699]	uncertain significance	9	98082909	98082909	Human	1	name
11345027	CV236885	single nucleotide variant	NM_018946.4(NANS):c.452G>A (p.Arg151His)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224301]\|not provided [RCV002516217]\|not specified [RCV001731533]	pathogenic\|uncertain significance	9	98078196	98078196	Human	1	name , alternate_id
11345369	CV236886	single nucleotide variant	NM_018946.4(NANS):c.398G>T (p.Gly133Val)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224713]	pathogenic	9	98076967	98076967	Human	1	name , alternate_id
11345353	CV236888	single nucleotide variant	NM_018946.4(NANS):c.562T>C (p.Tyr188His)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224249]	pathogenic	9	98078306	98078306	Human	1	name , alternate_id
11345367	CV236889	single nucleotide variant	NM_018946.4(NANS):c.709C>T (p.Arg237Cys)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224653]	pathogenic\|uncertain significance	9	98080921	98080921	Human	1	name , alternate_id
243057293	CV2410600	single nucleotide variant	NM_018946.4(NANS):c.937A>G (p.Thr313Ala)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV003132831]	uncertain significance	9	98082912	98082912	Human	1	name , alternate_id
401723937	CV2672204	single nucleotide variant	NM_018946.4(NANS):c.772G>T (p.Glu258Ter)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV003492851]\|not provided [RCV003239105]	pathogenic\|uncertain significance	9	98080984	98080984	Human	1	name , alternate_id
401767563	CV2681704	single nucleotide variant	NM_018946.4(NANS):c.812G>A (p.Arg271His)	Inborn genetic diseases [RCV003259852]	uncertain significance	9	98081024	98081024	Human	1	name
401720970	CV2737379	single nucleotide variant	NM_018946.4(NANS):c.735G>A (p.Trp245Ter)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV003314318]	likely pathogenic	9	98080947	98080947	Human	1	name , alternate_id
401721364	CV2737537	single nucleotide variant	NM_018946.4(NANS):c.668T>C (p.Ile223Thr)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV003314476]	uncertain significance	9	98080880	98080880	Human	1	name , alternate_id
402514204	CV3039944	single nucleotide variant	NM_018946.4(NANS):c.509A>G (p.Gln170Arg)	not provided [RCV003715933]	uncertain significance	9	98078253	98078253	Human		name
405791443	CV3335379	single nucleotide variant	NM_018946.4(NANS):c.970C>T (p.Pro324Ser)	Inborn genetic diseases [RCV004474141]	uncertain significance	9	98082945	98082945	Human	1	name
596947990	CV3547581	duplication	NM_018946.4(NANS):c.1069dup (p.Ile357fs)	not provided [RCV004811885]	uncertain significance	9	98083037	98083038	Human		name
597712449	CV3565150	single nucleotide variant	NM_018946.4(NANS):c.503T>C (p.Val168Ala)	Inborn genetic diseases [RCV004959311]	uncertain significance	9	98078247	98078247	Human	1	name
597841406	CV3825514	single nucleotide variant	NM_018946.4(NANS):c.440C>G (p.Ala147Gly)	not provided [RCV005172197]	uncertain significance	9	98077009	98077009	Human		name
13835844	CV587107	single nucleotide variant	NM_018946.4(NANS):c.304G>A (p.Ala102Thr)	Inborn genetic diseases [RCV005384840]\|not provided [RCV000731753]	uncertain significance	9	98060953	98060953	Human	1	name
15189045	CV737265	single nucleotide variant	NM_018946.4(NANS):c.351G>A (p.Met117Ile)	NANS-related disorder [RCV003950706]\|not provided [RCV000909539]	benign\|likely benign	9	98076920	98076920	Human	1	name , trait , alternate_id
15122574	CV737266	single nucleotide variant	NM_018946.4(NANS):c.520C>T (p.Pro174Ser)	not provided [RCV000896262]	benign	9	98078264	98078264	Human		name
8626751	CV81895	single nucleotide variant	NM_018946.3(NANS):c.904C>T (p.Pro302Ser)	Malignant melanoma [RCV000061974]	not provided	9	98082879	98082879	Human		name
151884023	CV1404911	single nucleotide variant	NM_018946.4(NANS):c.1073A>G (p.Lys358Arg)	Inborn genetic diseases [RCV004040385]\|not provided [RCV001962248]	uncertain significance	9	98083048	98083048	Human	1	name
156019881	CV2174088	single nucleotide variant	NM_018946.4(NANS):c.1007T>C (p.Leu336Pro)	not provided [RCV003035675]	uncertain significance	9	98082982	98082982	Human		name
596947601	CV3549160	single nucleotide variant	NM_018946.4(NANS):c.1070T>C (p.Ile357Thr)	not provided [RCV004811484]	uncertain significance	9	98083045	98083045	Human		name
597712442	CV3565149	single nucleotide variant	NM_018946.4(NANS):c.1007T>A (p.Leu336Gln)	Inborn genetic diseases [RCV004959310]	uncertain significance	9	98082982	98082982	Human	1	name
156207979	CV1913319	microsatellite	NM_018946.4(NANS):c.10GAGCTG[1] (p.4EL[1])	Inborn genetic diseases [RCV002595957]\|Spondyloepimetaphyseal dysplasia, Genevieve type [RCV003989806]\|not provided [RCV002610641]	uncertain significance	9	98056814	98056819	Human		name , alternate_id
11345018	CV236882	indel	NM_018946.4(NANS):c.449-10_449-5delinsATGG	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224207]\|not provided [RCV003765452]	pathogenic\|likely pathogenic	9	98078183	98078188	Human		name , alternate_id
11351049	CV236887	duplication	NM_018946.4(NANS):c.979_981dup (p.Ile327dup)	Spondyloepimetaphyseal dysplasia, Genevieve type [RCV000224852]\|not provided [RCV001854772]	pathogenic\|uncertain significance	9	98082952	98082953	Human	1	name , alternate_id

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