Nfs1 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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147 records found for search term Nfs1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405294605	CV3204189	single nucleotide variant	NM_021100.5(NFS1):c.-9A>T	NFS1-related disorder [RCV003934552]	likely benign	20	35699297	35699297	Human		name , trait , alternate_id
13528493	CV507313	single nucleotide variant	NM_021100.5(NFS1):c.-38T>G	not specified [RCV000600059]	likely benign	20	35699326	35699326	Human		name
13535252	CV507742	single nucleotide variant	NM_021100.5(NFS1):c.-43A>C	not specified [RCV000602207]	likely benign	20	35699331	35699331	Human		name
13535312	CV508174	single nucleotide variant	NM_021100.5(NFS1):c.-22G>A	not specified [RCV000602253]	likely benign	20	35699310	35699310	Human		name
13525254	CV508180	single nucleotide variant	NM_021100.5(NFS1):c.-39C>G	not specified [RCV000602912]	likely benign	20	35699327	35699327	Human		name
150516935	CV1227374	single nucleotide variant	NM_021100.5(NFS1):c.*260C>A	not provided [RCV001639475]	benign	20	35669362	35669362	Human	5	name
150475804	CV1279133	single nucleotide variant	NM_021100.5(NFS1):c.*193A>G	not provided [RCV001713893]	benign	20	35669429	35669429	Human		name
150543418	CV1308971	single nucleotide variant	NM_021100.5(NFS1):c.*247A>G	not provided [RCV001769884]	likely benign	20	35669375	35669375	Human		name
14744303	CV670470	single nucleotide variant	NM_021100.5(NFS1):c.98-4T>A	not provided [RCV000842664]	likely benign	20	35698594	35698594	Human		name
150532498	CV1309233	single nucleotide variant	NM_021100.5(NFS1):c.98-98T>C	not provided [RCV001752914]	likely benign	20	35698688	35698688	Human		name
151811327	CV1506697	single nucleotide variant	NM_021100.5(NFS1):c.948+1G>T	Combined oxidative phosphorylation deficiency 52 [RCV003130595]\|not provided [RCV001918639]	uncertain significance	20	35675044	35675044	Human	1	name
152116976	CV1566386	single nucleotide variant	NM_021100.5(NFS1):c.98-17G>C	not provided [RCV002153778]	likely benign	20	35698607	35698607	Human		name
405145158	CV3141490	single nucleotide variant	NM_021100.5(NFS1):c.949-5C>T	not provided [RCV003839607]	likely benign	20	35674622	35674622	Human		name
405285103	CV3202400	single nucleotide variant	NM_021100.5(NFS1):c.324+9A>C	NFS1-related disorder [RCV003909670]	likely benign	20	35697675	35697675	Human		name , trait , alternate_id
13540518	CV507311	single nucleotide variant	NM_021100.5(NFS1):c.791-9G>T	not provided [RCV002531706]\|not specified [RCV000614802]	benign\|likely benign	20	35675211	35675211	Human		name
13536196	CV507312	single nucleotide variant	NM_021100.5(NFS1):c.790+7G>T	not specified [RCV000608644]	likely benign	20	35680730	35680730	Human		name
13530985	CV508173	single nucleotide variant	NM_021100.5(NFS1):c.98-17G>A	not specified [RCV000606322]	likely benign	20	35698607	35698607	Human		name
150539342	CV1308685	single nucleotide variant	NM_021100.5(NFS1):c.207+85A>T	not provided [RCV001766189]	likely benign	20	35698396	35698396	Human		name
150536121	CV1309140	single nucleotide variant	NM_021100.5(NFS1):c.409-39G>C	not provided [RCV001759347]	likely benign	20	35690604	35690604	Human		name
151793703	CV1482637	single nucleotide variant	NM_021100.5(NFS1):c.1310+5A>G	not provided [RCV002047346]	likely benign	20	35672750	35672750	Human		name
152089034	CV1539912	single nucleotide variant	NM_021100.5(NFS1):c.208-12T>G	not provided [RCV002131811]	likely benign	20	35697812	35697812	Human		name
156119435	CV1952652	single nucleotide variant	NM_021100.5(NFS1):c.561+19A>T	not provided [RCV002571803]	likely benign	20	35690394	35690394	Human		name
155970561	CV2030791	single nucleotide variant	NM_021100.5(NFS1):c.408+16C>A	not provided [RCV002731602]	likely benign	20	35696361	35696361	Human		name
156298922	CV2119385	single nucleotide variant	NM_021100.5(NFS1):c.1137-3C>T	not provided [RCV002962049]	uncertain significance	20	35673687	35673687	Human		name
156259763	CV2138546	single nucleotide variant	NM_021100.5(NFS1):c.1310+9A>G	NFS1-related disorder [RCV003906426]\|not provided [RCV002988424]	likely benign	20	35672746	35672746	Human	1	name , trait , alternate_id
13533419	CV507309	single nucleotide variant	NM_021100.5(NFS1):c.948+20C>T	not specified [RCV000607087]	likely benign	20	35675025	35675025	Human		name
14730192	CV670170	single nucleotide variant	NM_021100.5(NFS1):c.324+84A>T	not provided [RCV000835559]	benign	20	35697600	35697600	Human		name
14711847	CV670172	single nucleotide variant	NM_021100.5(NFS1):c.207+20C>T	not provided [RCV000828184]	likely benign	20	35698461	35698461	Human		name
14730375	CV670249	single nucleotide variant	NM_021100.5(NFS1):c.207+88T>A	not provided [RCV000835649]	benign	20	35698393	35698393	Human		name
14726515	CV670466	single nucleotide variant	NM_021100.5(NFS1):c.208-71G>C	not provided [RCV000833905]	likely benign	20	35697871	35697871	Human		name
150517255	CV1226703	single nucleotide variant	NM_021100.5(NFS1):c.207+152C>A	not provided [RCV001639797]	benign	20	35698329	35698329	Human		name
150462916	CV1253731	single nucleotide variant	NM_021100.5(NFS1):c.325-171G>T	not provided [RCV001669773]	benign	20	35696631	35696631	Human		name
150485049	CV1280633	single nucleotide variant	NM_021100.5(NFS1):c.655+233T>C	not provided [RCV001715509]	benign	20	35681655	35681655	Human		name
150505205	CV1286130	duplication	NM_021100.5(NFS1):c.325-217dup	not provided [RCV001719553]	benign	20	35696675	35696676	Human		name
150505293	CV1286153	single nucleotide variant	NM_021100.5(NFS1):c.324+257C>T	not provided [RCV001719576]	benign	20	35697427	35697427	Human		name
150539380	CV1308726	deletion	NM_021100.5(NFS1):c.1221-48del	not provided [RCV001766230]	likely benign	20	35672892	35672892	Human		name
150543456	CV1308981	single nucleotide variant	NM_021100.5(NFS1):c.325-236A>G	not provided [RCV001769894]	likely benign	20	35696696	35696696	Human		name
150532430	CV1309189	single nucleotide variant	NM_021100.5(NFS1):c.656-199C>T	not provided [RCV001752870]	likely benign	20	35681070	35681070	Human		name
156234153	CV1952702	single nucleotide variant	NM_021100.5(NFS1):c.1311-16C>T	not provided [RCV002575988]	likely benign	20	35669701	35669701	Human		name
156414778	CV1954947	single nucleotide variant	NM_021100.5(NFS1):c.1055-20A>G	not provided [RCV002588802]	uncertain significance	20	35674451	35674451	Human		name
13536481	CV507155	single nucleotide variant	NM_021100.5(NFS1):c.1221-19C>T	not provided [RCV002063892]\|not specified [RCV000609061]	likely benign	20	35672863	35672863	Human		name
13538411	CV507156	single nucleotide variant	NM_021100.5(NFS1):c.1136+11C>T	not provided [RCV002062159]\|not specified [RCV000611797]	benign	20	35674339	35674339	Human		name
13536376	CV508168	single nucleotide variant	NM_021100.5(NFS1):c.1310+11T>G	not specified [RCV000608913]	likely benign	20	35672744	35672744	Human		name
13540607	CV508170	single nucleotide variant	NM_021100.5(NFS1):c.1055-12T>G	not provided [RCV001707802]	benign\|likely benign	20	35674443	35674443	Human		name
14730196	CV669075	single nucleotide variant	NM_021100.5(NFS1):c.1311-56T>G	not provided [RCV000835562]	benign	20	35669741	35669741	Human		name
14741858	CV669093	single nucleotide variant	NM_021100.5(NFS1):c.1137-16G>C	not provided [RCV000840980]	benign\|likely benign	20	35673700	35673700	Human		name
14719139	CV669101	single nucleotide variant	NM_021100.5(NFS1):c.324+164G>A	not provided [RCV000830641]	benign	20	35697520	35697520	Human		name
14731796	CV670239	single nucleotide variant	NM_021100.5(NFS1):c.1220+63C>G	not provided [RCV000836298]	benign	20	35673538	35673538	Human		name
14719148	CV670244	single nucleotide variant	NM_021100.5(NFS1):c.655+263T>C	not provided [RCV000830645]	benign	20	35681625	35681625	Human		name
14730194	CV670464	deletion	NM_021100.5(NFS1):c.409-120del	not provided [RCV000835560]	benign	20	35690685	35690685	Human		name
150468269	CV1259476	single nucleotide variant	NM_021100.5(NFS1):c.1310+253G>A	not provided [RCV001683775]	benign	20	35672502	35672502	Human		name
150541646	CV1306485	single nucleotide variant	NM_021100.5(NFS1):c.1221-155T>C	not provided [RCV001768107]	likely benign	20	35672999	35672999	Human		name
150539388	CV1308741	single nucleotide variant	NM_021100.5(NFS1):c.1221-114A>T	not provided [RCV001766245]	likely benign	20	35672958	35672958	Human		name
401930396	CV2827182	single nucleotide variant	NM_021100.5(NFS1):c.408+1573C>T	not provided [RCV003440379]	likely benign	20	35694804	35694804	Human		name
596946757	CV3548587	single nucleotide variant	NM_021100.5(NFS1):c.408+1631C>T	not provided [RCV004810415]	likely benign	20	35694746	35694746	Human		name
14724537	CV669081	single nucleotide variant	NM_021100.5(NFS1):c.1311-188C>T	not provided [RCV000833030]	likely benign	20	35669873	35669873	Human		name
14724535	CV669084	single nucleotide variant	NM_021100.5(NFS1):c.1220+240G>A	not provided [RCV000833029]	likely benign	20	35673361	35673361	Human		name
14719208	CV670167	single nucleotide variant	NM_021100.5(NFS1):c.1220+292T>C	not provided [RCV000830674]	benign	20	35673309	35673309	Human		name
14719212	CV670236	single nucleotide variant	NM_021100.5(NFS1):c.1310+257C>T	not provided [RCV000830677]	benign	20	35672498	35672498	Human		name
14719171	CV670240	single nucleotide variant	NM_021100.5(NFS1):c.1136+261T>G	not provided [RCV000830655]	benign	20	35674089	35674089	Human		name
14708813	CV670242	duplication	NM_021100.5(NFS1):c.1136+252dup	not provided [RCV000830653]	benign	20	35674095	35674096	Human		name
14719209	CV670463	single nucleotide variant	NM_021100.5(NFS1):c.1221-214A>G	not provided [RCV000830675]	benign	20	35673058	35673058	Human		name
150479560	CV1221525	duplication	NM_021100.5(NFS1):c.656-84_656-82dup	not provided [RCV001616604]	benign	20	35680952	35680953	Human		name
155911486	CV1980199	single nucleotide variant	NM_021100.5(NFS1):c.81G>A (p.Arg27=)	not provided [RCV002614026]	likely benign	20	35699208	35699208	Human		name
404979520	CV3127831	single nucleotide variant	NM_021100.5(NFS1):c.54A>G (p.Pro18=)	not provided [RCV003825863]	likely benign	20	35699235	35699235	Human		name
14709379	CV670248	deletion	NM_021100.5(NFS1):c.655+90_655+92del	not provided [RCV000835561]	benign	20	35681796	35681798	Human		name
156392315	CV2006323	single nucleotide variant	NM_021100.5(NFS1):c.11G>A (p.Arg4Gln)	not provided [RCV002654502]	uncertain significance	20	35699278	35699278	Human		name
405266159	CV3215809	single nucleotide variant	NM_021100.5(NFS1):c.282T>A (p.Ala94=)	NFS1-related disorder [RCV003946957]	likely benign	20	35697726	35697726	Human		name , trait , alternate_id
12845647	CV377008	single nucleotide variant	NM_021100.5(NFS1):c.166C>T (p.Leu56=)	not provided [RCV001698147]	benign\|likely benign	20	35698522	35698522	Human		name
12832922	CV379696	single nucleotide variant	NM_021100.5(NFS1):c.222T>A (p.Leu74=)	not specified [RCV000417506]	likely benign	20	35697786	35697786	Human		name
597887492	CV3804310	single nucleotide variant	NM_021100.5(NFS1):c.264A>C (p.Pro88=)	not provided [RCV005150761]	likely benign	20	35697744	35697744	Human		name
597954622	CV3809295	single nucleotide variant	NM_021100.5(NFS1):c.177C>T (p.Leu59=)	not provided [RCV005162019]	likely benign	20	35698511	35698511	Human		name
13542049	CV507736	single nucleotide variant	NM_021100.5(NFS1):c.162A>C (p.Pro54=)	not provided [RCV002066891]\|not specified [RCV000616993]	likely benign	20	35698526	35698526	Human		name
14743262	CV656632	single nucleotide variant	NM_021100.5(NFS1):c.273G>T (p.Arg91=)	not provided [RCV000841931]	likely benign	20	35697735	35697735	Human		name
156241684	CV1981327	single nucleotide variant	NM_021100.5(NFS1):c.58C>T (p.Pro20Ser)	not provided [RCV002645594]	uncertain significance	20	35699231	35699231	Human		name
156005287	CV2041896	single nucleotide variant	NM_021100.5(NFS1):c.855G>A (p.Gly285=)	not provided [RCV002756400]	likely benign	20	35675138	35675138	Human		name
156013806	CV2076445	single nucleotide variant	NM_021100.5(NFS1):c.648A>C (p.Ala216=)	not provided [RCV002866246]	likely benign	20	35681895	35681895	Human		name
155995161	CV2122528	single nucleotide variant	NM_021100.5(NFS1):c.810C>T (p.Ile270=)	not provided [RCV002974914]	likely benign	20	35675183	35675183	Human		name
156119488	CV2150795	single nucleotide variant	NM_021100.5(NFS1):c.600G>A (p.Val200=)	not provided [RCV003021740]	likely benign	20	35681943	35681943	Human		name
401930395	CV2827181	single nucleotide variant	NM_021100.5(NFS1):c.975G>A (p.Leu325=)	not provided [RCV003440378]	likely benign	20	35674591	35674591	Human		name
405069902	CV2876400	single nucleotide variant	NM_021100.5(NFS1):c.663T>A (p.Ile221=)	not provided [RCV003548465]	likely benign	20	35680864	35680864	Human		name
597833285	CV3760421	single nucleotide variant	NM_021100.5(NFS1):c.94C>T (p.Arg32Cys)	not provided [RCV005085164]	uncertain significance	20	35699195	35699195	Human		name
12847244	CV379695	single nucleotide variant	NM_021100.5(NFS1):c.822C>T (p.Pro274=)	not provided [RCV005055979]\|not specified [RCV000443136]	likely benign	20	35675171	35675171	Human		name
597938992	CV3852950	single nucleotide variant	NM_021100.5(NFS1):c.612T>G (p.Thr204=)	not provided [RCV005187351]	likely benign	20	35681931	35681931	Human		name
598238352	CV3997720	single nucleotide variant	NM_021100.5(NFS1):c.29C>A (p.Ala10Glu)	not specified [RCV005382731]	uncertain significance	20	35699260	35699260	Human		name
13541267	CV507732	single nucleotide variant	NM_021100.5(NFS1):c.780C>T (p.Tyr260=)	not specified [RCV000615925]	likely benign	20	35680747	35680747	Human		name
13528397	CV507735	single nucleotide variant	NM_021100.5(NFS1):c.318T>C (p.Ala106=)	not specified [RCV000600038]	likely benign	20	35697690	35697690	Human		name
127323175	CV1161574	single nucleotide variant	NM_021100.5(NFS1):c.215G>A (p.Arg72Gln)	Combined oxidative phosphorylation deficiency 52 [RCV001523893]\|not provided [RCV002568046]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	20	35697793	35697793	Human	1	name
156414898	CV1955174	single nucleotide variant	NM_021100.5(NFS1):c.1317C>G (p.Leu439=)	not provided [RCV002588867]	likely benign	20	35669679	35669679	Human		name
155962630	CV2197616	single nucleotide variant	NM_021100.5(NFS1):c.127C>T (p.Pro43Ser)	not specified [RCV004074833]	uncertain significance	20	35698561	35698561	Human		name
156253451	CV2232512	single nucleotide variant	NM_021100.5(NFS1):c.106C>T (p.Arg36Cys)	not specified [RCV004099115]	uncertain significance	20	35698582	35698582	Human		name
405703658	CV3361649	single nucleotide variant	NM_021100.5(NFS1):c.109G>T (p.Ala37Ser)	not specified [RCV004492829]	uncertain significance	20	35698579	35698579	Human		name
405703817	CV3361671	single nucleotide variant	NM_021100.5(NFS1):c.154G>A (p.Val52Met)	not specified [RCV004492851]	uncertain significance	20	35698534	35698534	Human		name
407526853	CV3451259	single nucleotide variant	NM_021100.5(NFS1):c.271C>G (p.Arg91Gly)	not specified [RCV004654966]	uncertain significance	20	35697737	35697737	Human		name
407526860	CV3451263	single nucleotide variant	NM_021100.5(NFS1):c.267C>A (p.His89Gln)	not specified [RCV004654968]	uncertain significance	20	35697741	35697741	Human		name
596947454	CV3549009	single nucleotide variant	NM_021100.5(NFS1):c.1167T>C (p.Ser389=)	not provided [RCV004811333]	likely benign	20	35673654	35673654	Human		name
597656719	CV3559168	single nucleotide variant	NM_021100.5(NFS1):c.233T>A (p.Leu78His)	not specified [RCV004834339]	uncertain significance	20	35697775	35697775	Human		name
12841049	CV377006	single nucleotide variant	NM_021100.5(NFS1):c.1053C>T (p.Pro351=)	NFS1-related disorder [RCV004758015]\|not provided [RCV003727727]\|not specified [RCV000431892]	likely benign\|uncertain significance	20	35674513	35674513	Human	1	name , trait , alternate_id
12835439	CV379694	single nucleotide variant	NM_021100.5(NFS1):c.1201T>C (p.Leu401=)	not provided [RCV000911600]	likely benign	20	35673620	35673620	Human		name
598238360	CV3997721	single nucleotide variant	NM_021100.5(NFS1):c.151G>A (p.Glu51Lys)	not specified [RCV005382732]	uncertain significance	20	35698537	35698537	Human		name
150493822	CV1282243	single nucleotide variant	NM_021100.5(NFS1):c.437A>G (p.Lys146Arg)	NFS1-related disorder [RCV003910974]\|not provided [RCV001717085]	benign\|likely benign	20	35690537	35690537	Human	1	name , trait , alternate_id
151709455	CV1409260	single nucleotide variant	NM_021100.5(NFS1):c.521C>T (p.Thr174Ile)	not provided [RCV001907683]	uncertain significance	20	35690453	35690453	Human		name
151850016	CV1427847	single nucleotide variant	NM_021100.5(NFS1):c.950A>G (p.Tyr317Cys)	not provided [RCV001922650]	uncertain significance	20	35674616	35674616	Human		name
151835780	CV1489330	single nucleotide variant	NM_021100.5(NFS1):c.593G>T (p.Ser198Ile)	not provided [RCV001902277]\|not specified [RCV004039844]	uncertain significance	20	35681950	35681950	Human		name
156135915	CV1914679	single nucleotide variant	NM_021100.5(NFS1):c.982C>T (p.Arg328Trp)	not provided [RCV002623484]\|not specified [RCV004069113]	uncertain significance	20	35674584	35674584	Human		name
156238998	CV1973123	single nucleotide variant	NM_021100.5(NFS1):c.613G>A (p.Val205Met)	not provided [RCV002597081]\|not specified [RCV004827892]	uncertain significance	20	35681930	35681930	Human		name
156402977	CV1988836	single nucleotide variant	NM_021100.5(NFS1):c.823C>T (p.Arg275Cys)	Combined oxidative phosphorylation deficiency 52 [RCV003314043]\|not provided [RCV002605811]	uncertain significance	20	35675170	35675170	Human	1	name
156390079	CV1990034	single nucleotide variant	NM_021100.5(NFS1):c.299A>C (p.Glu100Ala)	not provided [RCV002604589]\|not specified [RCV004065795]	uncertain significance	20	35697709	35697709	Human		name
156024584	CV2020027	single nucleotide variant	NM_021100.5(NFS1):c.571G>T (p.Ala191Ser)	not provided [RCV002691163]\|not specified [RCV004067686]	uncertain significance	20	35681972	35681972	Human		name
156295233	CV2119197	single nucleotide variant	NM_021100.5(NFS1):c.419G>A (p.Arg140Gln)	not provided [RCV002961892]	likely benign	20	35690555	35690555	Human		name
156172950	CV2194305	single nucleotide variant	NM_021100.5(NFS1):c.811C>T (p.Arg271Cys)	not specified [RCV004079421]	uncertain significance	20	35675182	35675182	Human		name
156154348	CV2242289	single nucleotide variant	NM_021100.5(NFS1):c.944T>C (p.Met315Thr)	not specified [RCV004111307]	uncertain significance	20	35675049	35675049	Human		name
156309598	CV2249657	single nucleotide variant	NM_021100.5(NFS1):c.818G>A (p.Arg273Gln)	not specified [RCV004120655]	uncertain significance	20	35675175	35675175	Human		name
401720519	CV2673359	single nucleotide variant	NM_021100.5(NFS1):c.983G>A (p.Arg328Gln)	not specified [RCV004288341]	uncertain significance	20	35674583	35674583	Human		name
405703873	CV3361678	single nucleotide variant	NM_021100.5(NFS1):c.308T>C (p.Met103Thr)	not specified [RCV004492858]	uncertain significance	20	35697700	35697700	Human		name
405703902	CV3361682	single nucleotide variant	NM_021100.5(NFS1):c.347C>T (p.Ala116Val)	not specified [RCV004492862]	uncertain significance	20	35696438	35696438	Human		name
405703931	CV3361686	single nucleotide variant	NM_021100.5(NFS1):c.355C>T (p.Arg119Cys)	not specified [RCV004492866]	uncertain significance	20	35696430	35696430	Human		name
405703971	CV3361691	single nucleotide variant	NM_021100.5(NFS1):c.518T>C (p.Val173Ala)	not specified [RCV004492871]	uncertain significance	20	35690456	35690456	Human		name
405704005	CV3361695	single nucleotide variant	NM_021100.5(NFS1):c.592A>T (p.Ser198Cys)	not specified [RCV004492875]	uncertain significance	20	35681951	35681951	Human		name
405704076	CV3361703	single nucleotide variant	NM_021100.5(NFS1):c.667A>G (p.Ser223Gly)	not specified [RCV004492883]	uncertain significance	20	35680860	35680860	Human		name
405704115	CV3361707	single nucleotide variant	NM_021100.5(NFS1):c.671C>G (p.Ser224Cys)	not specified [RCV004492887]	uncertain significance	20	35680856	35680856	Human		name
405704124	CV3361708	single nucleotide variant	NM_021100.5(NFS1):c.700G>T (p.Ala234Ser)	not specified [RCV004492888]	uncertain significance	20	35680827	35680827	Human		name
405705194	CV3361711	single nucleotide variant	NM_021100.5(NFS1):c.781G>A (p.Gly261Ser)	not specified [RCV004492891]	uncertain significance	20	35680746	35680746	Human		name
407496941	CV3451262	single nucleotide variant	NM_021100.5(NFS1):c.815G>A (p.Arg272His)	not specified [RCV004643626]	uncertain significance	20	35675178	35675178	Human		name
407526867	CV3451265	single nucleotide variant	NM_021100.5(NFS1):c.565C>A (p.Leu189Ile)	not specified [RCV004654970]	uncertain significance	20	35681978	35681978	Human		name
597656711	CV3559167	single nucleotide variant	NM_021100.5(NFS1):c.812G>A (p.Arg271His)	not specified [RCV004834338]	uncertain significance	20	35675181	35675181	Human		name
597656728	CV3559169	single nucleotide variant	NM_021100.5(NFS1):c.756G>T (p.Met252Ile)	not specified [RCV004834340]	uncertain significance	20	35680771	35680771	Human		name
598125727	CV3885918	duplication	NM_021100.5(NFS1):c.1322dup (p.Met442fs)	not provided [RCV005241721]	uncertain significance	20	35669673	35669674	Human		name
598192388	CV3997717	single nucleotide variant	NM_021100.5(NFS1):c.757A>G (p.Ser253Gly)	not specified [RCV005374343]	uncertain significance	20	35680770	35680770	Human		name
598238346	CV3997718	single nucleotide variant	NM_021100.5(NFS1):c.624G>T (p.Glu208Asp)	not specified [RCV005382730]	uncertain significance	20	35681919	35681919	Human		name
598192396	CV3997719	single nucleotide variant	NM_021100.5(NFS1):c.543T>A (p.Ser181Arg)	not specified [RCV005374344]	uncertain significance	20	35690431	35690431	Human		name
150528630	CV1306002	single nucleotide variant	NM_021100.5(NFS1):c.1352G>A (p.Ser451Asn)	not provided [RCV001755405]	benign\|likely benign	20	35669644	35669644	Human		name
151768404	CV1360543	single nucleotide variant	NM_021100.5(NFS1):c.1060A>G (p.Ile354Val)	not provided [RCV001874204]	uncertain significance	20	35674426	35674426	Human		name
151870043	CV1412323	single nucleotide variant	NM_021100.5(NFS1):c.1358A>G (p.Lys453Arg)	not provided [RCV001885022]\|not specified [RCV004041557]	uncertain significance	20	35669638	35669638	Human		name
156273398	CV1900068	single nucleotide variant	NM_021100.5(NFS1):c.1295G>A (p.Arg432His)	not provided [RCV003086867]	uncertain significance	20	35672770	35672770	Human		name
156367667	CV2177808	single nucleotide variant	NM_021100.5(NFS1):c.1111A>C (p.Lys371Gln)	not provided [RCV003049458]	uncertain significance	20	35674375	35674375	Human		name
155918323	CV2195865	single nucleotide variant	NM_021100.5(NFS1):c.1079A>G (p.Tyr360Cys)	not specified [RCV004076204]	uncertain significance	20	35674407	35674407	Human		name
156193782	CV2223291	single nucleotide variant	NM_021100.5(NFS1):c.1030G>C (p.Gly344Arg)	not specified [RCV004105902]	uncertain significance	20	35674536	35674536	Human		name
156054909	CV2243139	single nucleotide variant	NM_021100.5(NFS1):c.1216A>G (p.Ile406Val)	not specified [RCV004110044]	uncertain significance	20	35673605	35673605	Human		name
156103241	CV2260492	single nucleotide variant	NM_021100.5(NFS1):c.1339A>G (p.Ile447Val)	not specified [RCV004123281]	uncertain significance	20	35669657	35669657	Human		name
405703541	CV3361634	single nucleotide variant	NM_021100.5(NFS1):c.1008C>A (p.Ser336Arg)	not specified [RCV004492814]	uncertain significance	20	35674558	35674558	Human		name
405703566	CV3361637	single nucleotide variant	NM_021100.5(NFS1):c.1018G>A (p.Val340Met)	not specified [RCV004492817]	uncertain significance	20	35674548	35674548	Human		name
405703730	CV3361659	single nucleotide variant	NM_021100.5(NFS1):c.1283A>C (p.Gln428Pro)	not specified [RCV004492839]	uncertain significance	20	35672782	35672782	Human		name
405703774	CV3361665	single nucleotide variant	NM_021100.5(NFS1):c.1358A>C (p.Lys453Thr)	not specified [RCV004492845]	uncertain significance	20	35669638	35669638	Human		name
407496938	CV3451260	single nucleotide variant	NM_021100.5(NFS1):c.1345C>A (p.Leu449Ile)	not specified [RCV004643625]	uncertain significance	20	35669651	35669651	Human		name
407526864	CV3451264	single nucleotide variant	NM_021100.5(NFS1):c.1223T>G (p.Phe408Cys)	not specified [RCV004654969]	uncertain significance	20	35672842	35672842	Human		name
8628495	CV83639	single nucleotide variant	NM_021100.4(NFS1):c.1300C>T (p.Arg434Ter)	Malignant melanoma [RCV000063720]	not provided	20	35672765	35672765	Human		name

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