Nat8 Variant Search Result - Rat Genome Database

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144 records found for search term Nat8

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
155932710	CV2290833	single nucleotide variant	NM_003960.4(NAT8):c.68G>A (p.Arg23Gln)	not specified [RCV004149328]	likely benign	2	73641561	73641561	Human		name
155908984	CV2387483	single nucleotide variant	NM_003960.4(NAT8):c.67C>T (p.Arg23Trp)	not specified [RCV004240343]	uncertain significance	2	73641562	73641562	Human		name
329375603	CV2431579	single nucleotide variant	NM_003960.4(NAT8):c.48G>C (p.Trp16Cys)	not specified [RCV004254729]	uncertain significance	2	73641581	73641581	Human		name
405783166	CV3342640	single nucleotide variant	NM_003960.4(NAT8):c.41G>A (p.Arg14His)	not specified [RCV004472316]	uncertain significance	2	73641588	73641588	Human		name
405783241	CV3342653	single nucleotide variant	NM_003960.4(NAT8):c.49G>A (p.Val17Ile)	not specified [RCV004472329]	uncertain significance	2	73641580	73641580	Human		name
598215480	CV3983383	single nucleotide variant	NM_003960.4(NAT8):c.52G>T (p.Val18Leu)	not specified [RCV005378761]	likely benign	2	73641577	73641577	Human		name
15178466	CV708359	single nucleotide variant	NM_003960.4(NAT8):c.84T>A (p.His28Gln)	not provided [RCV000973672]	benign	2	73641545	73641545	Human		name
155989044	CV2355214	single nucleotide variant	NM_003960.4(NAT8):c.233C>A (p.Ala78Asp)	not specified [RCV004198590]	uncertain significance	2	73641396	73641396	Human		name
155905612	CV2393113	single nucleotide variant	NM_003960.4(NAT8):c.282G>A (p.Met94Ile)	not specified [RCV004226593]	uncertain significance	2	73641347	73641347	Human		name
407487927	CV3458082	single nucleotide variant	NM_003960.4(NAT8):c.248C>T (p.Thr83Met)	not specified [RCV004641200]	likely benign	2	73641381	73641381	Human		name
597655032	CV3565265	single nucleotide variant	NM_003960.4(NAT8):c.226T>C (p.Phe76Leu)	not specified [RCV004834166]	uncertain significance	2	73641403	73641403	Human		name
597655069	CV3565269	single nucleotide variant	NM_003960.4(NAT8):c.281T>C (p.Met94Thr)	not specified [RCV004834170]	uncertain significance	2	73641348	73641348	Human		name
598215454	CV3983377	single nucleotide variant	NM_003960.4(NAT8):c.101G>A (p.Arg34Gln)	not specified [RCV005378756]	uncertain significance	2	73641528	73641528	Human		name
598215459	CV3983378	single nucleotide variant	NM_003960.4(NAT8):c.275C>G (p.Thr92Arg)	not specified [RCV005378757]	uncertain significance	2	73641354	73641354	Human		name
598215470	CV3983380	single nucleotide variant	NM_003960.4(NAT8):c.264G>A (p.Met88Ile)	not specified [RCV005378759]	uncertain significance	2	73641365	73641365	Human		name
598252284	CV3983381	single nucleotide variant	NM_003960.4(NAT8):c.265A>G (p.Thr89Ala)	not specified [RCV005385136]	uncertain significance	2	73641364	73641364	Human		name
156237902	CV2224243	single nucleotide variant	NM_003960.4(NAT8):c.530C>T (p.Thr177Ile)	not specified [RCV004096071]	uncertain significance	2	73641099	73641099	Human		name
156237988	CV2265316	single nucleotide variant	NM_003960.4(NAT8):c.527A>G (p.Asp176Gly)	not specified [RCV004128208]	uncertain significance	2	73641102	73641102	Human		name
156178411	CV2287930	single nucleotide variant	NM_003960.4(NAT8):c.361A>G (p.Met121Val)	not specified [RCV004147709]	uncertain significance	2	73641268	73641268	Human		name
156051317	CV2304649	single nucleotide variant	NM_003960.4(NAT8):c.581A>C (p.Lys194Thr)	not specified [RCV004166534]	uncertain significance	2	73641048	73641048	Human		name
155929927	CV2361001	single nucleotide variant	NM_003960.4(NAT8):c.448C>G (p.Arg150Gly)	not specified [RCV004216198]	likely benign	2	73641181	73641181	Human		name
156045845	CV2381745	single nucleotide variant	NM_003960.4(NAT8):c.335C>A (p.Ala112Asp)	not specified [RCV004232199]	uncertain significance	2	73641294	73641294	Human		name
156008024	CV2390054	single nucleotide variant	NM_003960.4(NAT8):c.571A>T (p.Met191Leu)	not specified [RCV004238657]	likely benign	2	73641058	73641058	Human		name
156149184	CV2394557	single nucleotide variant	NM_003960.4(NAT8):c.445C>T (p.Arg149Cys)	not specified [RCV004240910]	uncertain significance	2	73641184	73641184	Human		name
329350370	CV2452468	single nucleotide variant	NM_003960.4(NAT8):c.585G>C (p.Lys195Asn)	not specified [RCV004273072]	uncertain significance	2	73641044	73641044	Human		name
401748913	CV2722856	single nucleotide variant	NM_003960.4(NAT8):c.407G>A (p.Arg136Gln)	not specified [RCV004325269]	likely benign	2	73641222	73641222	Human		name
401856679	CV2755177	single nucleotide variant	NM_003960.4(NAT8):c.463A>G (p.Lys155Glu)	not specified [RCV004337369]	uncertain significance	2	73641166	73641166	Human		name
405783036	CV3342618	single nucleotide variant	NM_003960.4(NAT8):c.304C>A (p.Leu102Met)	not specified [RCV004472294]	uncertain significance	2	73641325	73641325	Human		name
405783084	CV3342626	single nucleotide variant	NM_003960.4(NAT8):c.313C>T (p.Arg105Cys)	not specified [RCV004472302]	uncertain significance	2	73641316	73641316	Human		name
405783132	CV3342634	single nucleotide variant	NM_003960.4(NAT8):c.364G>A (p.Val122Ile)	not specified [RCV004472310]	uncertain significance	2	73641265	73641265	Human		name
405783225	CV3342650	single nucleotide variant	NM_003960.4(NAT8):c.496C>T (p.Arg166Trp)	not specified [RCV004472326]	uncertain significance	2	73641133	73641133	Human		name
405783296	CV3342663	single nucleotide variant	NM_003960.4(NAT8):c.532G>A (p.Gly178Ser)	not specified [RCV004472339]	likely benign	2	73641097	73641097	Human		name
407520820	CV3458083	single nucleotide variant	NM_003960.4(NAT8):c.311A>C (p.Glu104Ala)	not specified [RCV004652315]	uncertain significance	2	73641318	73641318	Human		name
407520822	CV3458084	single nucleotide variant	NM_003960.4(NAT8):c.368G>T (p.Gly123Val)	not specified [RCV004652316]	uncertain significance	2	73641261	73641261	Human		name
407520825	CV3458085	single nucleotide variant	NM_003960.4(NAT8):c.497G>C (p.Arg166Pro)	not specified [RCV004652317]	uncertain significance	2	73641132	73641132	Human		name
597655040	CV3565266	single nucleotide variant	NM_003960.4(NAT8):c.323G>A (p.Cys108Tyr)	not specified [RCV004834167]	uncertain significance	2	73641306	73641306	Human		name
597655052	CV3565267	single nucleotide variant	NM_003960.4(NAT8):c.448C>T (p.Arg150Cys)	not specified [RCV004834168]	uncertain significance	2	73641181	73641181	Human		name
597655060	CV3565268	single nucleotide variant	NM_003960.4(NAT8):c.371C>T (p.Ala124Val)	not specified [RCV004834169]	uncertain significance	2	73641258	73641258	Human		name
598215465	CV3983379	single nucleotide variant	NM_003960.4(NAT8):c.363G>A (p.Met121Ile)	not specified [RCV005378758]	uncertain significance	2	73641266	73641266	Human		name
15106835	CV719965	single nucleotide variant	NM_003960.4(NAT8):c.362T>C (p.Met121Thr)	not provided [RCV000893359]	benign	2	73641267	73641267	Human		name
156368712	CV2193769	single nucleotide variant	NR_132338.2(NAT8B):n.651C>G	not specified [RCV004074529]	uncertain significance	2	73700862	73700862	Human		name
156313660	CV2196531	single nucleotide variant	NR_132338.2(NAT8B):n.259G>A	not specified [RCV004073820]	uncertain significance	2	73701254	73701254	Human		name
156400757	CV2217137	single nucleotide variant	NR_132338.2(NAT8B):n.218A>T	not specified [RCV004085808]	uncertain significance	2	73701295	73701295	Human		name
156254658	CV2229201	single nucleotide variant	NR_132338.2(NAT8B):n.836T>G	not specified [RCV004101020]	uncertain significance	2	73700677	73700677	Human		name
156052556	CV2269433	single nucleotide variant	NR_132338.2(NAT8B):n.548C>A	not specified [RCV004124552]	uncertain significance	2	73700965	73700965	Human		name
156264815	CV2289956	single nucleotide variant	NR_132338.2(NAT8B):n.398T>C	not specified [RCV004150606]	uncertain significance	2	73701115	73701115	Human		name
155975780	CV2327895	single nucleotide variant	NR_132338.2(NAT8B):n.764G>C	not specified [RCV004179219]	likely benign	2	73700749	73700749	Human		name
155979565	CV2339145	single nucleotide variant	NR_132338.2(NAT8B):n.352G>T	not specified [RCV004187185]	uncertain significance	2	73701161	73701161	Human		name
156280879	CV2348489	single nucleotide variant	NR_132338.2(NAT8B):n.307C>T	not specified [RCV004193676]	likely benign	2	73701206	73701206	Human		name
156207910	CV2382430	single nucleotide variant	NR_132338.2(NAT8B):n.883C>A	not specified [RCV004230769]	uncertain significance	2	73700630	73700630	Human		name
156347034	CV2382832	single nucleotide variant	NR_132338.2(NAT8B):n.479G>A	not specified [RCV004217439]	uncertain significance	2	73701034	73701034	Human		name
156087914	CV2388265	single nucleotide variant	NR_132338.2(NAT8B):n.218A>G	not specified [RCV004234722]	uncertain significance	2	73701295	73701295	Human		name
156220748	CV2397332	single nucleotide variant	NR_132338.2(NAT8B):n.874C>G	not specified [RCV004238858]	uncertain significance	2	73700639	73700639	Human		name
329379583	CV2443470	single nucleotide variant	NR_132338.2(NAT8B):n.311G>A	not specified [RCV004262306]	likely benign	2	73701202	73701202	Human		name
329374625	CV2443981	single nucleotide variant	NR_132338.2(NAT8B):n.658C>A	not specified [RCV004258307]	uncertain significance	2	73700855	73700855	Human		name
401723118	CV2674716	single nucleotide variant	NR_132338.2(NAT8B):n.464T>C	not specified [RCV004294003]	uncertain significance	2	73701049	73701049	Human		name
401749770	CV2694743	single nucleotide variant	NR_132338.2(NAT8B):n.487A>G	not specified [RCV004298830]	uncertain significance	2	73701026	73701026	Human		name
401760925	CV2695212	single nucleotide variant	NR_132338.2(NAT8B):n.421C>G	not specified [RCV004303351]	likely benign	2	73701092	73701092	Human		name
401747079	CV2698779	single nucleotide variant	NR_132338.2(NAT8B):n.521G>T	not specified [RCV004301227]	uncertain significance	2	73700992	73700992	Human		name
401737443	CV2699819	single nucleotide variant	NR_132338.2(NAT8B):n.835C>T	not specified [RCV004308467]	uncertain significance	2	73700678	73700678	Human		name
401772324	CV2712667	single nucleotide variant	NR_132338.2(NAT8B):n.451T>C	not specified [RCV004307986]	uncertain significance	2	73701062	73701062	Human		name
401779383	CV2718525	single nucleotide variant	NR_132338.2(NAT8B):n.275G>A	not specified [RCV004318330]	likely benign	2	73701238	73701238	Human		name
401857979	CV2774133	single nucleotide variant	NR_132338.2(NAT8B):n.470T>C	not specified [RCV004345725]	likely benign	2	73701043	73701043	Human		name
405783421	CV3342685	single nucleotide variant	NR_132338.2(NAT8B):n.314T>C	not specified [RCV004472361]	uncertain significance	2	73701199	73701199	Human		name
405783491	CV3342697	single nucleotide variant	NR_132338.2(NAT8B):n.347T>A	not specified [RCV004472373]	uncertain significance	2	73701166	73701166	Human		name
405783545	CV3342706	single nucleotide variant	NR_132338.2(NAT8B):n.355G>C	not specified [RCV004472382]	likely benign	2	73701158	73701158	Human		name
405783631	CV3342721	single nucleotide variant	NR_132338.2(NAT8B):n.455C>T	not specified [RCV004472397]	likely benign	2	73701058	73701058	Human		name
405783666	CV3342727	single nucleotide variant	NR_132338.2(NAT8B):n.460T>A	not specified [RCV004472403]	uncertain significance	2	73701053	73701053	Human		name
405791971	CV3342750	single nucleotide variant	NR_132338.2(NAT8B):n.614G>A	not specified [RCV004474410]	likely benign	2	73700899	73700899	Human		name
405792186	CV3342764	single nucleotide variant	NR_132338.2(NAT8B):n.760A>C	not specified [RCV004474424]	likely benign	2	73700753	73700753	Human		name
405792143	CV3342776	single nucleotide variant	NR_132338.2(NAT8B):n.283G>T	not specified [RCV004474436]	uncertain significance	2	73701230	73701230	Human		name
407520828	CV3458086	single nucleotide variant	NR_132338.2(NAT8B):n.266T>C	not specified [RCV004652318]	uncertain significance	2	73701247	73701247	Human		name
407520831	CV3458087	single nucleotide variant	NR_132338.2(NAT8B):n.415C>T	not specified [RCV004652319]	uncertain significance	2	73701098	73701098	Human		name
407520833	CV3458089	single nucleotide variant	NR_132338.2(NAT8B):n.703C>T	not specified [RCV004652320]	uncertain significance	2	73700810	73700810	Human		name
407487935	CV3458090	single nucleotide variant	NR_132338.2(NAT8B):n.362C>G	not specified [RCV004641202]	uncertain significance	2	73701151	73701151	Human		name
597655079	CV3565270	single nucleotide variant	NR_132338.2(NAT8B):n.520T>C	not specified [RCV004834171]	likely benign	2	73700993	73700993	Human		name
597655101	CV3565272	single nucleotide variant	NR_132338.2(NAT8B):n.220C>T	not specified [RCV004834173]	uncertain significance	2	73701293	73701293	Human		name
597655108	CV3565273	single nucleotide variant	NR_132338.2(NAT8B):n.825G>C	not specified [RCV004834174]	uncertain significance	2	73700688	73700688	Human		name
598252289	CV3983384	single nucleotide variant	NR_132338.2(NAT8B):n.698T>C	not specified [RCV005385137]	uncertain significance	2	73700815	73700815	Human		name
598215487	CV3983385	single nucleotide variant	NR_132338.2(NAT8B):n.653G>A	not specified [RCV005378762]	uncertain significance	2	73700860	73700860	Human		name
598252295	CV3983386	single nucleotide variant	NR_132338.2(NAT8B):n.723A>T	not specified [RCV005385138]	uncertain significance	2	73700790	73700790	Human		name
598215493	CV3983387	single nucleotide variant	NR_132338.2(NAT8B):n.724G>A	not specified [RCV005378763]	uncertain significance	2	73700789	73700789	Human		name
598252301	CV3983388	single nucleotide variant	NR_132338.2(NAT8B):n.854T>A	not specified [RCV005385139]	uncertain significance	2	73700659	73700659	Human		name
598215498	CV3983389	single nucleotide variant	NR_132338.2(NAT8B):n.340C>A	not specified [RCV005378764]	uncertain significance	2	73701173	73701173	Human		name
405270609	CV3211509	single nucleotide variant	NM_178557.4(NAT8L):c.541+7C>T	NAT8L-related disorder [RCV003949383]	likely benign	4	2061169	2061169	Human		name , trait , alternate_id
15153861	CV730281	single nucleotide variant	NM_178557.4(NAT8L):c.541+8C>T	not provided [RCV000880096]	benign	4	2061170	2061170	Human		name
405853298	CV3392626	single nucleotide variant	NM_178557.4(NAT8L):c.376+14G>A	not specified [RCV004526350]	likely benign	4	2059901	2059901	Human		name
405288340	CV3197307	single nucleotide variant	NM_178557.4(NAT8L):c.96C>T (p.Leu32=)	NAT8L-related disorder [RCV003982403]	benign	4	2059607	2059607	Human		name , trait , alternate_id
156073720	CV2299252	single nucleotide variant	NM_178557.4(NAT8L):c.16C>A (p.Pro6Thr)	not specified [RCV004152583]	uncertain significance	4	2059527	2059527	Human		name
405792129	CV3342780	single nucleotide variant	NM_178557.4(NAT8L):c.13C>T (p.Pro5Ser)	not specified [RCV004474440]	uncertain significance	4	2059524	2059524	Human		name
15122846	CV709305	single nucleotide variant	NM_178557.4(NAT8L):c.105C>T (p.Ala35=)	not provided [RCV000963139]	likely benign	4	2059616	2059616	Human		name
15156417	CV734605	single nucleotide variant	NM_178557.4(NAT8L):c.168A>C (p.Pro56=)	not provided [RCV000902326]	likely benign	4	2059679	2059679	Human		name
15190426	CV734606	single nucleotide variant	NM_178557.4(NAT8L):c.225G>C (p.Gly75=)	not provided [RCV000909944]	likely benign	4	2059736	2059736	Human		name
15122628	CV764436	single nucleotide variant	NM_178557.4(NAT8L):c.243C>G (p.Arg81=)	not provided [RCV000940714]	benign	4	2059754	2059754	Human		name
155945078	CV2237931	single nucleotide variant	NM_178557.4(NAT8L):c.43G>T (p.Val15Leu)	not specified [RCV004109150]	uncertain significance	4	2059554	2059554	Human		name
405792257	CV3342839	single nucleotide variant	NM_178557.4(NAT8L):c.85G>A (p.Asp29Asn)	not specified [RCV004474499]	uncertain significance	4	2059596	2059596	Human		name
405853297	CV3392625	single nucleotide variant	NM_178557.4(NAT8L):c.705C>T (p.Phe235=)	not specified [RCV004526349]	likely benign	4	2063923	2063923	Human		name
407425662	CV3409553	single nucleotide variant	NM_178557.4(NAT8L):c.702G>A (p.Glu234=)	not provided [RCV004585485]	uncertain significance	4	2063920	2063920	Human		name
407520836	CV3458091	single nucleotide variant	NM_178557.4(NAT8L):c.71C>G (p.Pro24Arg)	not specified [RCV004652321]	uncertain significance	4	2059582	2059582	Human		name
407487939	CV3458092	single nucleotide variant	NM_178557.4(NAT8L):c.65C>T (p.Ala22Val)	not specified [RCV004641203]	uncertain significance	4	2059576	2059576	Human		name
597655123	CV3565275	single nucleotide variant	NM_178557.4(NAT8L):c.88G>A (p.Ala30Thr)	not specified [RCV004834176]	uncertain significance	4	2059599	2059599	Human		name
597655956	CV3565281	single nucleotide variant	NM_178557.4(NAT8L):c.53A>G (p.Glu18Gly)	not specified [RCV004834182]	uncertain significance	4	2059564	2059564	Human		name
598252325	CV3983396	single nucleotide variant	NM_178557.4(NAT8L):c.95T>G (p.Leu32Arg)	not specified [RCV005385143]	uncertain significance	4	2059606	2059606	Human		name
15130606	CV709306	single nucleotide variant	NM_178557.4(NAT8L):c.345G>A (p.Pro115=)	not provided [RCV000964463]	likely benign	4	2059856	2059856	Human		name
15141557	CV709308	single nucleotide variant	NM_178557.4(NAT8L):c.789C>T (p.Gly263=)	not provided [RCV000966325]	likely benign	4	2064007	2064007	Human		name
15177587	CV734607	single nucleotide variant	NM_178557.4(NAT8L):c.681G>A (p.Ala227=)	not provided [RCV000906687]	likely benign	4	2063899	2063899	Human		name
15100163	CV781933	single nucleotide variant	NM_178557.4(NAT8L):c.672C>T (p.Ile224=)	not provided [RCV000975371]	likely benign	4	2063890	2063890	Human		name
156174589	CV2194440	single nucleotide variant	NM_178557.4(NAT8L):c.220G>C (p.Gly74Arg)	not specified [RCV004079537]	uncertain significance	4	2059731	2059731	Human		name
156216923	CV2253815	single nucleotide variant	NM_178557.4(NAT8L):c.212G>C (p.Gly71Ala)	not specified [RCV004127514]	uncertain significance	4	2059723	2059723	Human		name
156031519	CV2376371	single nucleotide variant	NM_178557.4(NAT8L):c.184C>G (p.Gln62Glu)	not specified [RCV004220564]	uncertain significance	4	2059695	2059695	Human		name
401746328	CV2678816	single nucleotide variant	NM_178557.4(NAT8L):c.176C>T (p.Pro59Leu)	not specified [RCV004292798]	uncertain significance	4	2059687	2059687	Human		name
401766984	CV2680213	single nucleotide variant	NM_178557.4(NAT8L):c.106G>A (p.Gly36Ser)	not specified [RCV004286687]	uncertain significance	4	2059617	2059617	Human		name
401751208	CV2696262	single nucleotide variant	NM_178557.4(NAT8L):c.191A>G (p.His64Arg)	not specified [RCV004310603]	uncertain significance	4	2059702	2059702	Human		name
401729072	CV2730008	single nucleotide variant	NM_178557.4(NAT8L):c.157C>G (p.Pro53Ala)	not specified [RCV004332988]	uncertain significance	4	2059668	2059668	Human		name
405791996	CV3342783	single nucleotide variant	NM_178557.4(NAT8L):c.154C>T (p.Pro52Ser)	not specified [RCV004474443]	uncertain significance	4	2059665	2059665	Human		name
405792020	CV3342791	single nucleotide variant	NM_178557.4(NAT8L):c.175C>T (p.Pro59Ser)	not specified [RCV004474451]	uncertain significance	4	2059686	2059686	Human		name
597655115	CV3565274	single nucleotide variant	NM_178557.4(NAT8L):c.221G>T (p.Gly74Val)	not specified [RCV004834175]	uncertain significance	4	2059732	2059732	Human		name
597655132	CV3565276	single nucleotide variant	NM_178557.4(NAT8L):c.166C>T (p.Pro56Ser)	not specified [RCV004834177]	uncertain significance	4	2059677	2059677	Human		name
597655160	CV3565279	single nucleotide variant	NM_178557.4(NAT8L):c.122C>T (p.Pro41Leu)	not specified [RCV004834180]	uncertain significance	4	2059633	2059633	Human		name
597655171	CV3565280	single nucleotide variant	NM_178557.4(NAT8L):c.172G>A (p.Ala58Thr)	not specified [RCV004834181]	uncertain significance	4	2059683	2059683	Human		name
598215505	CV3983391	single nucleotide variant	NM_178557.4(NAT8L):c.110C>T (p.Ala37Val)	not specified [RCV005378765]	uncertain significance	4	2059621	2059621	Human		name
598252312	CV3983392	single nucleotide variant	NM_178557.4(NAT8L):c.232G>A (p.Val78Met)	not specified [RCV005385141]	uncertain significance	4	2059743	2059743	Human		name
598252317	CV3983393	single nucleotide variant	NM_178557.4(NAT8L):c.203G>C (p.Gly68Ala)	not specified [RCV005385142]	uncertain significance	4	2059714	2059714	Human		name
598215517	CV3983395	single nucleotide variant	NM_178557.4(NAT8L):c.113T>C (p.Met38Thr)	not specified [RCV005378767]	uncertain significance	4	2059624	2059624	Human		name
21068741	CV795577	duplication	NM_178557.4(NAT8L):c.733dup (p.Val245fs)	not provided [RCV000998208]	uncertain significance	4	2063949	2063950	Human		name
156388838	CV2229687	single nucleotide variant	NM_178557.4(NAT8L):c.763G>A (p.Ala255Thr)	not specified [RCV004103494]	uncertain significance	4	2063981	2063981	Human		name
156290993	CV2324962	single nucleotide variant	NM_178557.4(NAT8L):c.689G>A (p.Arg230Gln)	not specified [RCV004175216]	uncertain significance	4	2063907	2063907	Human		name
155970550	CV2335594	single nucleotide variant	NM_178557.4(NAT8L):c.472C>T (p.Arg158Cys)	not specified [RCV004193800]	uncertain significance	4	2061093	2061093	Human		name
156145352	CV2383996	single nucleotide variant	NM_178557.4(NAT8L):c.881G>A (p.Arg294His)	not specified [RCV004224970]	uncertain significance	4	2064099	2064099	Human		name
401751211	CV2696263	single nucleotide variant	NM_178557.4(NAT8L):c.805G>T (p.Ala269Ser)	not specified [RCV004310604]	likely benign	4	2064023	2064023	Human		name
401751214	CV2696264	single nucleotide variant	NM_178557.4(NAT8L):c.815A>G (p.His272Arg)	not specified [RCV004310605]	uncertain significance	4	2064033	2064033	Human		name
401751217	CV2696265	single nucleotide variant	NM_178557.4(NAT8L):c.823C>A (p.Leu275Met)	not specified [RCV004310606]	uncertain significance	4	2064041	2064041	Human		name
401724506	CV2714867	single nucleotide variant	NM_178557.4(NAT8L):c.670A>C (p.Ile224Leu)	not specified [RCV004320418]	uncertain significance	4	2063888	2063888	Human		name
401863246	CV2765616	single nucleotide variant	NM_178557.4(NAT8L):c.347G>A (p.Arg116His)	not specified [RCV004335629]	uncertain significance	4	2059858	2059858	Human		name
405792064	CV3342806	single nucleotide variant	NM_178557.4(NAT8L):c.344C>T (p.Pro115Leu)	not specified [RCV004474466]	uncertain significance	4	2059855	2059855	Human		name
405792108	CV3342819	single nucleotide variant	NM_178557.4(NAT8L):c.562G>A (p.Val188Met)	not specified [RCV004474479]	uncertain significance	4	2063780	2063780	Human		name
407520839	CV3458093	single nucleotide variant	NM_178557.4(NAT8L):c.358C>G (p.Leu120Val)	not specified [RCV004652322]	uncertain significance	4	2059869	2059869	Human		name
597655141	CV3565277	single nucleotide variant	NM_178557.4(NAT8L):c.887G>A (p.Arg296His)	not specified [RCV004834178]	uncertain significance	4	2064105	2064105	Human		name
597655150	CV3565278	single nucleotide variant	NM_178557.4(NAT8L):c.670A>G (p.Ile224Val)	not specified [RCV004834179]	uncertain significance	4	2063888	2063888	Human		name
598215511	CV3983394	single nucleotide variant	NM_178557.4(NAT8L):c.577G>A (p.Val193Met)	not specified [RCV005378766]	uncertain significance	4	2063795	2063795	Human		name
15177891	CV720921	single nucleotide variant	NM_178557.4(NAT8L):c.431C>T (p.Ala144Val)	not provided [RCV000884933]	likely benign	4	2061052	2061052	Human		name
38596990	CV801805	single nucleotide variant	NM_178557.4(NAT8L):c.901G>A (p.Glu301Lys)	Microcephaly [RCV001252755]	uncertain significance	4	2064119	2064119	Human	2	name
8630436	CV85591	single nucleotide variant	NM_016347.2(NAT8B):c.640C>T (p.His214Tyr)	Malignant melanoma [RCV000065674]	not provided	2	73700666	73700666	Human		name
8574766	CV39806	deletion	NM_178557.4(NAT8L):c.212_230del (p.Gly71fs)	N-acetylaspartate deficiency [RCV000088670]	pathogenic	4	2059712	2059730	Human	1	name

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