Nadk Variant Search Result - Rat Genome Database

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318 records found for search term Nadk

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
329366814	CV2441906	single nucleotide variant	NM_023018.5(NADK):c.393+7G>A	not specified [RCV004262088]	uncertain significance	1	1757174	1757174	Human		name
156252901	CV2268425	single nucleotide variant	NM_023018.5(NADK):c.394-12C>T	not specified [RCV004132557]	uncertain significance	1	1756620	1756620	Human		name
155993941	CV2281379	single nucleotide variant	NM_023018.5(NADK):c.393+38A>T	not specified [RCV004141176]	uncertain significance	1	1757143	1757143	Human		name
156273009	CV2344073	single nucleotide variant	NM_023018.5(NADK):c.393+60C>G	not specified [RCV004195679]	uncertain significance	1	1757121	1757121	Human		name
156219696	CV2344927	single nucleotide variant	NM_023018.5(NADK):c.393+47G>A	not specified [RCV004191056]	uncertain significance	1	1757134	1757134	Human		name
401884154	CV2762750	single nucleotide variant	NM_023018.5(NADK):c.393+61C>T	not specified [RCV004340306]	uncertain significance	1	1757120	1757120	Human		name
405743936	CV3335030	single nucleotide variant	NM_023018.5(NADK):c.394-48A>T	not specified [RCV004466053]	uncertain significance	1	1756656	1756656	Human		name
407520635	CV3447872	single nucleotide variant	NM_023018.5(NADK):c.394-35C>T	not specified [RCV004652248]	uncertain significance	1	1756643	1756643	Human		name
597653332	CV3555521	single nucleotide variant	NM_023018.5(NADK):c.393+14G>T	not specified [RCV004833962]	uncertain significance	1	1757167	1757167	Human		name
597653338	CV3555522	single nucleotide variant	NM_023018.5(NADK):c.393+52G>A	not specified [RCV004833963]	uncertain significance	1	1757129	1757129	Human		name
15183175	CV706888	single nucleotide variant	NM_023018.5(NADK):c.393+41G>T	not provided [RCV000974814]	benign	1	1757140	1757140	Human		name
156203028	CV2334838	single nucleotide variant	NM_023018.5(NADK):c.264-1858G>A	not specified [RCV004181948]	uncertain significance	1	1759168	1759168	Human		name
156190643	CV2339622	single nucleotide variant	NM_023018.5(NADK):c.264-1869T>C	not specified [RCV004196331]	uncertain significance	1	1759179	1759179	Human		name
156276281	CV2351920	single nucleotide variant	NM_023018.5(NADK):c.263+2165G>A	not specified [RCV004198060]	uncertain significance	1	1759787	1759787	Human		name
401866529	CV2762672	single nucleotide variant	NM_023018.5(NADK):c.264-1915G>A	not specified [RCV004340234]	uncertain significance	1	1759225	1759225	Human		name
401869608	CV2772460	single nucleotide variant	NM_023018.5(NADK):c.264-1794C>T	not specified [RCV004355242]	uncertain significance	1	1759104	1759104	Human		name
401935241	CV2805539	single nucleotide variant	NM_023018.5(NADK):c.263+2107G>A	not provided [RCV003412664]	likely benign	1	1759845	1759845	Human		name
405743339	CV3335007	single nucleotide variant	NM_023018.5(NADK):c.263+2126G>A	not specified [RCV004466030]	uncertain significance	1	1759826	1759826	Human		name
405743402	CV3335016	single nucleotide variant	NM_023018.5(NADK):c.263+2205C>A	not specified [RCV004466039]	likely benign	1	1759747	1759747	Human		name
405743988	CV3335022	single nucleotide variant	NM_023018.5(NADK):c.264-1861G>A	not specified [RCV004466045]	uncertain significance	1	1759171	1759171	Human		name
405743974	CV3335024	single nucleotide variant	NM_023018.5(NADK):c.264-1860C>G	not specified [RCV004466047]	uncertain significance	1	1759170	1759170	Human		name
15195409	CV718397	single nucleotide variant	NM_023018.5(NADK):c.264-1872C>T	not provided [RCV000889496]	benign	1	1759182	1759182	Human		name
15195412	CV718398	single nucleotide variant	NM_023018.5(NADK):c.263+2124C>T	not provided [RCV000889497]	benign	1	1759828	1759828	Human		name
15178750	CV761343	single nucleotide variant	NM_023018.5(NADK):c.264-1916C>T	not provided [RCV000929471]	likely benign	1	1759226	1759226	Human		name
8575051	CV109392	single nucleotide variant	NM_001198993.1(NADK):c.264-807G>A	Lung cancer [RCV000089917]	uncertain significance	1	1758117	1758117	Human		name
401935240	CV2805538	single nucleotide variant	NM_023018.5(NADK):c.297G>A (p.Thr99=)	not provided [RCV003412663]	likely benign	1	1757277	1757277	Human		name
156391103	CV2385091	single nucleotide variant	NM_023018.5(NADK):c.51C>A (p.Asp17Glu)	not specified [RCV004228356]	uncertain significance	1	1765356	1765356	Human		name
401881289	CV2789560	single nucleotide variant	NM_023018.5(NADK):c.31A>T (p.Asn11Tyr)	not specified [RCV004360165]	uncertain significance	1	1765376	1765376	Human		name
401935239	CV2805537	single nucleotide variant	NM_023018.5(NADK):c.858G>A (p.Val286=)	not provided [RCV003412662]	likely benign	1	1754369	1754369	Human		name
405743302	CV3335002	single nucleotide variant	NM_023018.5(NADK):c.28A>G (p.Met10Val)	not specified [RCV004466025]	uncertain significance	1	1765379	1765379	Human		name
405743922	CV3335032	single nucleotide variant	NM_023018.5(NADK):c.82G>A (p.Gly28Ser)	not specified [RCV004466055]	uncertain significance	1	1765325	1765325	Human		name
598204827	CV3987128	single nucleotide variant	NM_023018.5(NADK):c.29T>C (p.Met10Thr)	not specified [RCV005376661]	uncertain significance	1	1765378	1765378	Human		name
401724619	CV2677937	single nucleotide variant	NM_023018.5(NADK):c.191C>G (p.Ser64Cys)	not specified [RCV004296471]	uncertain significance	1	1762024	1762024	Human		name
401777272	CV2707839	single nucleotide variant	NM_023018.5(NADK):c.109C>A (p.Pro37Thr)	not specified [RCV004309122]	uncertain significance	1	1765298	1765298	Human		name
405743273	CV3334998	single nucleotide variant	NM_023018.5(NADK):c.187C>T (p.Arg63Cys)	not specified [RCV004466021]	uncertain significance	1	1762028	1762028	Human		name
405743962	CV3335026	single nucleotide variant	NM_023018.5(NADK):c.296C>T (p.Thr99Met)	not specified [RCV004466049]	uncertain significance	1	1757278	1757278	Human		name
15121611	CV761342	single nucleotide variant	NM_023018.5(NADK):c.1017C>T (p.Asn339=)	not provided [RCV000940554]	likely benign	1	1754135	1754135	Human		name
156084256	CV2395153	single nucleotide variant	NM_023018.5(NADK):c.880T>C (p.Ser294Pro)	not specified [RCV004236828]	uncertain significance	1	1754347	1754347	Human		name
401882216	CV2781573	single nucleotide variant	NM_023018.5(NADK):c.749G>A (p.Gly250Glu)	not specified [RCV004354787]	uncertain significance	1	1754638	1754638	Human		name
405742882	CV3334968	single nucleotide variant	NM_023018.5(NADK):c.874C>T (p.Pro292Ser)	not specified [RCV004465991]	uncertain significance	1	1754353	1754353	Human		name
405743908	CV3335034	single nucleotide variant	NM_023018.5(NADK):c.494G>A (p.Arg165Gln)	not specified [RCV004466057]	uncertain significance	1	1756508	1756508	Human		name
597653323	CV3555520	single nucleotide variant	NM_023018.5(NADK):c.442A>G (p.Ile148Val)	not specified [RCV004833961]	uncertain significance	1	1756560	1756560	Human		name
597653346	CV3555523	single nucleotide variant	NM_023018.5(NADK):c.977C>T (p.Ala326Val)	not specified [RCV004833964]	uncertain significance	1	1754175	1754175	Human		name
598204815	CV3987126	single nucleotide variant	NM_023018.5(NADK):c.545G>A (p.Gly182Glu)	not specified [RCV005376659]	uncertain significance	1	1756298	1756298	Human		name
598204821	CV3987127	single nucleotide variant	NM_023018.5(NADK):c.479A>G (p.Lys160Arg)	not specified [RCV005376660]	uncertain significance	1	1756523	1756523	Human		name
598204834	CV3987129	single nucleotide variant	NM_023018.5(NADK):c.812T>C (p.Met271Thr)	not specified [RCV005376662]	likely benign	1	1754575	1754575	Human		name
156044624	CV2268542	single nucleotide variant	NM_023018.5(NADK):c.1268A>G (p.Gln423Arg)	not specified [RCV004123964]	uncertain significance	1	1752977	1752977	Human		name
156336164	CV2360687	single nucleotide variant	NM_023018.5(NADK):c.1003A>G (p.Met335Val)	not specified [RCV004213481]	uncertain significance	1	1754149	1754149	Human		name
155989566	CV2371955	single nucleotide variant	NM_023018.5(NADK):c.1015A>C (p.Asn339His)	not specified [RCV004221635]	uncertain significance	1	1754137	1754137	Human		name
401743946	CV2696904	single nucleotide variant	NM_023018.5(NADK):c.1285G>A (p.Val429Ile)	not specified [RCV004292908]	uncertain significance	1	1752960	1752960	Human		name
401722430	CV2706517	single nucleotide variant	NM_023018.5(NADK):c.1220C>T (p.Ser407Phe)	not specified [RCV004317327]	uncertain significance	1	1753025	1753025	Human		name
401867738	CV2777120	single nucleotide variant	NM_023018.5(NADK):c.1304A>G (p.His435Arg)	not specified [RCV004354171]	uncertain significance	1	1752941	1752941	Human		name
405743181	CV3334985	single nucleotide variant	NM_023018.5(NADK):c.1231C>T (p.Arg411Trp)	not specified [RCV004466008]	uncertain significance	1	1753014	1753014	Human		name
401944476	CV2839818	microsatellite	NM_023018.5(NADK):c.1310AGG[10] (p.Glu445_Gly446insGlu)	not specified [RCV003457238]	benign	1	1752908	1752909	Human		name
150465496	CV1240250	single nucleotide variant	NM_153013.5(NADK2):c.-346T>C	not provided [RCV001650011]	benign	5	36242252	36242252	Human		name
12837219	CV368628	single nucleotide variant	NM_001085411.3(NADK2):c.-8G>A	not specified [RCV000424787]	likely benign	5	36241806	36241806	Human		name
150430091	CV1231966	single nucleotide variant	NM_001085411.3(NADK2):c.-88C>G	not provided [RCV001641228]	benign	5	36241886	36241886	Human		name
150442089	CV1233641	single nucleotide variant	NM_001085411.3(NADK2):c.-55A>G	not provided [RCV001645329]	benign	5	36241853	36241853	Human		name
151232900	CV1316924	single nucleotide variant	NM_001085411.3(NADK2):c.-81C>G	not provided [RCV001786744]	likely benign	5	36241879	36241879	Human		name
12847760	CV368629	single nucleotide variant	NM_001085411.3(NADK2):c.-22C>T	not provided [RCV004716425]\|not specified [RCV000444059]	benign	5	36241820	36241820	Human		name
12844955	CV368635	single nucleotide variant	NM_001085411.3(NADK2):c.-48T>C	not specified [RCV000438932]	likely benign	5	36241846	36241846	Human		name
12841089	CV368467	single nucleotide variant	NM_001085411.2(NADK2):c.-312A>G	not provided [RCV004716424]\|not specified [RCV000431959]	benign	5	36242110	36242110	Human		name
12847040	CV368643	single nucleotide variant	NM_001085411.2(NADK2):c.-296T>C	not specified [RCV000442779]	likely benign	5	36242094	36242094	Human		name
13536812	CV501196	single nucleotide variant	NM_001085411.2(NADK2):c.-303G>A	not specified [RCV000609528]	likely benign	5	36242101	36242101	Human		name
14730460	CV660886	single nucleotide variant	NM_001085411.3(NADK2):c.-107C>T	not provided [RCV000835689]	benign	5	36241905	36241905	Human		name
127333019	CV1136874	single nucleotide variant	NM_001085411.3(NADK2):c.300+8C>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001489898]	likely benign	5	36241491	36241491	Human	1	name
152159709	CV1544454	deletion	NM_001085411.3(NADK2):c.860+8del	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002122969]	benign	5	36211836	36211836	Human	1	name
152153403	CV1592807	deletion	NM_001085411.3(NADK2):c.957-9del	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002202325]	benign	5	36201170	36201170	Human	1	name
156079421	CV1959780	single nucleotide variant	NM_001085411.3(NADK2):c.561-3T>C	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002569860]	uncertain significance	5	36219682	36219682	Human	1	name
156020609	CV2226529	single nucleotide variant	NM_001085411.3(NADK2):c.782-5T>C	Inborn genetic diseases [RCV002757272]	uncertain significance	5	36211927	36211927	Human	1	name
156357869	CV2250720	single nucleotide variant	NM_001085411.3(NADK2):c.645-3A>G	Inborn genetic diseases [RCV002812368]	uncertain significance	5	36217887	36217887	Human	1	name
405070172	CV2884610	single nucleotide variant	NM_001085411.3(NADK2):c.300+3G>A	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003581066]	uncertain significance	5	36241496	36241496	Human	1	name
597959096	CV3848602	single nucleotide variant	NM_001085411.3(NADK2):c.782-6A>G	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005192303]	likely benign	5	36211928	36211928	Human	1	name
13536388	CV500880	single nucleotide variant	NM_001085411.3(NADK2):c.389+6T>C	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002528682]\|not specified [RCV000608927]	likely benign\|uncertain significance	5	36227471	36227471	Human	1	name
13537148	CV501559	single nucleotide variant	NM_001085411.3(NADK2):c.560+9G>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000905167]\|not specified [RCV000609997]	likely benign	5	36225533	36225533	Human	1	name
15150813	CV759476	single nucleotide variant	NM_001085411.3(NADK2):c.957-4C>T	not provided [RCV000923547]	likely benign	5	36201165	36201165	Human		name
26888140	CV818631	single nucleotide variant	NM_001085411.3(NADK2):c.956+6T>C	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001030439]	pathogenic	5	36207164	36207164	Human	1	name
126758442	CV1026622	single nucleotide variant	NM_001085411.3(NADK2):c.1190+6C>T	Inborn genetic diseases [RCV002546883]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001339850]	uncertain significance	5	36197535	36197535	Human	2	name
127296354	CV1115885	single nucleotide variant	NM_001085411.3(NADK2):c.390-10T>A	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001477313]	likely benign	5	36226573	36226573	Human	1	name
150339660	CV1167362	single nucleotide variant	NM_001085411.3(NADK2):c.301-81C>T	not provided [RCV001534427]	likely benign	5	36227646	36227646	Human		name
150432871	CV1200861	single nucleotide variant	NM_001085411.3(NADK2):c.479-92G>C	not provided [RCV001581585]	likely benign	5	36225715	36225715	Human		name
150453080	CV1255043	single nucleotide variant	NM_001085411.3(NADK2):c.957-48G>C	not provided [RCV001668102]	benign	5	36201209	36201209	Human		name
150445408	CV1261193	single nucleotide variant	NM_001085411.3(NADK2):c.957-73G>A	not provided [RCV001679867]	benign	5	36201234	36201234	Human		name
150459593	CV1264040	single nucleotide variant	NM_001085411.3(NADK2):c.861-57C>A	not provided [RCV001681955]	benign	5	36207322	36207322	Human		name
150535656	CV1311969	single nucleotide variant	NM_001085411.3(NADK2):c.301-37A>G	not provided [RCV001779780]	likely benign	5	36227602	36227602	Human		name
150535770	CV1312026	deletion	NM_001085411.3(NADK2):c.861-33del	not provided [RCV001779837]	likely benign	5	36207298	36207298	Human		name
151233035	CV1317696	single nucleotide variant	NM_001085411.3(NADK2):c.860+96A>C	not provided [RCV001787462]	likely benign	5	36211748	36211748	Human		name
151718268	CV1469295	single nucleotide variant	NM_001085411.3(NADK2):c.861-19T>C	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002039669]	likely benign	5	36207284	36207284	Human	1	name
152090058	CV1535834	single nucleotide variant	NM_001085411.3(NADK2):c.479-11A>G	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002150475]	likely benign	5	36225634	36225634	Human	1	name
152071644	CV1552149	single nucleotide variant	NM_001085411.3(NADK2):c.300+18C>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002148162]	likely benign	5	36241481	36241481	Human	1	name
152035393	CV1552931	single nucleotide variant	NM_001085411.3(NADK2):c.957-19A>C	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002187405]\|not provided [RCV004711754]	likely benign	5	36201180	36201180	Human	1	name
152107624	CV1577959	single nucleotide variant	NM_001085411.3(NADK2):c.560+13G>A	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002096394]	likely benign	5	36225529	36225529	Human	1	name
152140144	CV1624128	single nucleotide variant	NM_001085411.3(NADK2):c.301-17C>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002138072]	likely benign	5	36227582	36227582	Human	1	name
152146986	CV1649658	single nucleotide variant	NM_001085411.3(NADK2):c.479-16G>A	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002121202]	likely benign	5	36225639	36225639	Human	1	name
156047186	CV1868791	duplication	NM_001085411.3(NADK2):c.644+14dup	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003052870]	likely benign	5	36219581	36219582	Human	1	name
156077212	CV1886474	single nucleotide variant	NM_001085411.3(NADK2):c.1013-7T>A	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003079746]	likely benign	5	36200287	36200287	Human	1	name
156131137	CV1998424	single nucleotide variant	NM_001085411.3(NADK2):c.956+20G>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002663224]	likely benign	5	36207150	36207150	Human	1	name
156104116	CV2009981	single nucleotide variant	NM_001085411.3(NADK2):c.561-15C>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002706783]	likely benign	5	36219694	36219694	Human	1	name
155948800	CV2069003	single nucleotide variant	NM_001085411.3(NADK2):c.1067-4G>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002862231]	likely benign	5	36197668	36197668	Human	1	name
156225741	CV2085607	single nucleotide variant	NM_001085411.3(NADK2):c.478+18G>C	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002894360]	likely benign	5	36226457	36226457	Human	1	name
405074108	CV2886010	single nucleotide variant	NM_001085411.3(NADK2):c.389+18G>C	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003581212]	likely benign	5	36227459	36227459	Human	1	name
405060843	CV2959441	duplication	NM_001085411.3(NADK2):c.561-18dup	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003741569]	benign	5	36219696	36219697	Human	1	name
405069975	CV3028716	deletion	NM_001085411.3(NADK2):c.390-16del	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003742296]	likely benign	5	36226579	36226579	Human	1	name
405053710	CV3060310	single nucleotide variant	NM_001085411.3(NADK2):c.781+16A>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003740775]	likely benign	5	36217732	36217732	Human	1	name
405233053	CV3167967	single nucleotide variant	NM_001085411.3(NADK2):c.1012+3G>A	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003865635]	uncertain significance	5	36201103	36201103	Human	1	name
12836589	CV368624	single nucleotide variant	NM_001085411.3(NADK2):c.645-11A>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001511824]\|not provided [RCV004717569]\|not specified [RCV000423667]	benign	5	36217895	36217895	Human	1	name
597899117	CV3770764	single nucleotide variant	NM_001085411.3(NADK2):c.561-16T>A	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005111915]	likely benign	5	36219695	36219695	Human	1	name
597948162	CV3800889	single nucleotide variant	NM_001085411.3(NADK2):c.644+18T>C	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005135289]	likely benign	5	36219578	36219578	Human	1	name
597926374	CV3840681	single nucleotide variant	NM_001085411.3(NADK2):c.1012+9C>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005185152]	likely benign	5	36201097	36201097	Human	1	name
597875063	CV3846433	single nucleotide variant	NM_001085411.3(NADK2):c.957-14A>G	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005177316]	likely benign	5	36201175	36201175	Human	1	name
597928392	CV3851780	single nucleotide variant	NM_001085411.3(NADK2):c.479-11A>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005206248]	likely benign	5	36225634	36225634	Human	1	name
597967315	CV3855780	single nucleotide variant	NM_001085411.3(NADK2):c.860+18A>C	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005194760]	likely benign	5	36211826	36211826	Human	1	name
597937824	CV3862787	single nucleotide variant	NM_001085411.3(NADK2):c.645-18T>C	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005208060]	likely benign	5	36217902	36217902	Human	1	name
13539081	CV501194	single nucleotide variant	NM_001085411.3(NADK2):c.644+15C>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002531582]\|not specified [RCV000612777]	likely benign	5	36219581	36219581	Human	1	name
13536365	CV501322	single nucleotide variant	NM_001085411.3(NADK2):c.1191-6G>T	not specified [RCV000608898]	likely benign	5	36195288	36195288	Human		name
13525661	CV501334	single nucleotide variant	NM_001085411.3(NADK2):c.644+16G>A	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002062854]\|not provided [RCV001697402]	likely benign	5	36219580	36219580	Human	1	name
150425408	CV1183646	single nucleotide variant	NM_001085411.3(NADK2):c.1066+95T>C	not provided [RCV001557954]	likely benign	5	36200132	36200132	Human		name
150426622	CV1186920	single nucleotide variant	NM_001085411.3(NADK2):c.957-101T>C	not provided [RCV001559807]	likely benign	5	36201262	36201262	Human		name
150475087	CV1202193	single nucleotide variant	NM_001085411.3(NADK2):c.1067-56C>T	not provided [RCV001589436]	likely benign	5	36197720	36197720	Human		name
150485562	CV1223022	single nucleotide variant	NM_001085411.3(NADK2):c.1191-64T>C	not provided [RCV001617734]	benign	5	36195346	36195346	Human		name
150501050	CV1223620	single nucleotide variant	NM_001085411.3(NADK2):c.782-193G>A	not provided [RCV001620741]	benign	5	36212115	36212115	Human		name
150477326	CV1240014	single nucleotide variant	NM_001085411.3(NADK2):c.479-105C>T	not provided [RCV001652192]	benign	5	36225728	36225728	Human		name
150476773	CV1251914	duplication	NM_001085411.3(NADK2):c.861-194dup	not provided [RCV001672113]	benign	5	36207446	36207447	Human		name
150535367	CV1311864	single nucleotide variant	NM_001085411.3(NADK2):c.1191-64T>G	not provided [RCV001779674]	likely benign	5	36195346	36195346	Human		name
150535399	CV1311875	single nucleotide variant	NM_001085411.3(NADK2):c.861-150T>C	not provided [RCV001779685]	likely benign	5	36207415	36207415	Human		name
152153053	CV1610116	single nucleotide variant	NM_001085411.3(NADK2):c.1012+19A>G	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002179750]	likely benign	5	36201087	36201087	Human	1	name
405088384	CV2900051	single nucleotide variant	NM_001085411.3(NADK2):c.1190+12C>G	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003582673]	likely benign	5	36197529	36197529	Human	1	name
405074041	CV3054568	single nucleotide variant	NM_001085411.3(NADK2):c.1066+12A>G	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003742580]	likely benign	5	36200215	36200215	Human	1	name
12846173	CV368166	single nucleotide variant	NM_001085411.3(NADK2):c.1013-17C>T	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002062663]\|not specified [RCV000441151]	benign\|likely benign	5	36200297	36200297	Human	1	name
8580941	CV115377	single nucleotide variant	NM_001085411.2(NADK2):c.300+3311G>A	Lung cancer [RCV000095900]	uncertain significance	5	36238188	36238188	Human		name
150330940	CV1171410	duplication	NM_001085411.3(NADK2):c.1067-169dup	not provided [RCV001538379]	benign	5	36197827	36197828	Human		name
150449337	CV1202428	single nucleotide variant	NM_001085411.3(NADK2):c.861-1267C>G	not provided [RCV001585025]	likely benign	5	36208532	36208532	Human		name
150430157	CV1232032	single nucleotide variant	NM_001085411.3(NADK2):c.1066+167C>G	not provided [RCV001641294]	benign	5	36200060	36200060	Human		name
150535796	CV1312039	single nucleotide variant	NM_001085411.3(NADK2):c.1067-134C>T	not provided [RCV001779850]	likely benign	5	36197798	36197798	Human		name
151233340	CV1317047	single nucleotide variant	NM_001085411.3(NADK2):c.1013-105T>A	not provided [RCV001786868]	likely benign	5	36200385	36200385	Human		name
405275481	CV3215944	single nucleotide variant	NM_001085411.3(NADK2):c.861-1417A>G	NADK2-related disorder [RCV003952229]	likely benign	5	36208682	36208682	Human		name , trait , alternate_id
152107493	CV1639196	duplication	NM_001085411.3(NADK2):c.781+13_781+14dup	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002152604]	likely benign	5	36217733	36217734	Human	1	name
156028355	CV2116670	deletion	NM_001085411.3(NADK2):c.1067-11_1067-9del	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002923400]	likely benign	5	36197673	36197675	Human	1	name
405072722	CV2892763	microsatellite	NM_001085411.3(NADK2):c.1013-13_1013-9del	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003581232]	likely benign	5	36200289	36200293	Human		name
150450176	CV1275773	duplication	NM_001085411.3(NADK2):c.1013-29_1013-28dup	not provided [RCV001708228]	benign	5	36200307	36200308	Human		name
152142096	CV1533077	insertion	NM_001085411.3(NADK2):c.1067-20_1067-19insTA	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002156906]	likely benign	5	36197683	36197684	Human	1	name
152034784	CV1635019	indel	NM_001085411.3(NADK2):c.645-12_645-11delinsGT	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002087030]	likely benign	5	36217895	36217896	Human		name
150512335	CV1212969	insertion	NM_001085411.3(NADK2):c.781+85_781+86insATGATTA	not provided [RCV001598201]	benign	5	36217662	36217663	Human		name
405266999	CV3220156	single nucleotide variant	NM_001085411.3(NADK2):c.891T>C (p.Asp297=)	NADK2-related disorder [RCV003969419]	likely benign	5	36207235	36207235	Human		name , trait , alternate_id
405261411	CV3221525	single nucleotide variant	NM_001085411.3(NADK2):c.60G>C (p.Ala20=)	NADK2-related disorder [RCV003966993]	likely benign	5	36241739	36241739	Human		name , trait , alternate_id
12848051	CV369854	single nucleotide variant	NM_001085411.3(NADK2):c.1104G>A (p.Pro368=)	NADK2-related disorder [RCV003912653]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000555579]\|not provided [RCV002512103]\|not specified [RCV000444589]	benign	5	36197627	36197627	Human	1	name , trait , alternate_id
15184236	CV709901	single nucleotide variant	NM_001085411.3(NADK2):c.438A>C (p.Glu146Asp)	NADK2-related disorder [RCV003953350]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000975064]\|not provided [RCV004717736]	benign	5	36226515	36226515	Human	1	name , trait , alternate_id
15134502	CV782281	single nucleotide variant	NM_001085411.3(NADK2):c.1225A>G (p.Met409Val)	Inborn genetic diseases [RCV004030056]\|NADK2-related disorder [RCV003918605]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000981758]	likely benign\|uncertain significance	5	36195248	36195248	Human	2	name , trait , alternate_id
15114047	CV782282	single nucleotide variant	NM_001085411.3(NADK2):c.717C>T (p.His239=)	NADK2-related disorder [RCV003953365]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002548430]	likely benign	5	36217812	36217812	Human	1	name , trait , alternate_id
597889668	CV3739434	single nucleotide variant	NM_001085411.3(NADK2):c.9C>T (p.Cys3=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005070981]	likely benign	5	36241790	36241790	Human	1	name
127332147	CV1136876	single nucleotide variant	NM_001085411.3(NADK2):c.21C>T (p.Phe7=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001489320]	likely benign	5	36241778	36241778	Human	1	name
15107758	CV782283	single nucleotide variant	NM_001085411.3(NADK2):c.18C>T (p.Gly6=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001490169]	likely benign	5	36241781	36241781	Human	1	name
126918495	CV1043575	single nucleotide variant	NM_001085411.3(NADK2):c.5C>T (p.Thr2Ile)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001361754]	uncertain significance	5	36241794	36241794	Human	1	name
127299083	CV1136875	single nucleotide variant	NM_001085411.3(NADK2):c.72G>A (p.Arg24=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001498219]	likely benign	5	36241727	36241727	Human	1	name
152092804	CV1603081	single nucleotide variant	NM_001085411.3(NADK2):c.66G>A (p.Ala22=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002194513]	likely benign	5	36241733	36241733	Human	1	name
156413276	CV1904811	single nucleotide variant	NM_001085411.3(NADK2):c.99G>C (p.Ala33=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002588111]	likely benign	5	36241700	36241700	Human	1	name
13493194	CV446886	single nucleotide variant	NM_001085411.3(NADK2):c.1A>G (p.Met1Val)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000558004]	uncertain significance	5	36241798	36241798	Human	1	name
13536916	CV501572	single nucleotide variant	NM_001085411.3(NADK2):c.99G>A (p.Ala33=)	not provided [RCV000917137]\|not specified [RCV000609667]	likely benign	5	36241700	36241700	Human		name
14742373	CV633946	single nucleotide variant	NM_001085411.3(NADK2):c.48G>A (p.Ala16=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000822751]	likely benign\|uncertain significance	5	36241751	36241751	Human	1	name
127307092	CV1115886	single nucleotide variant	NM_001085411.3(NADK2):c.102G>T (p.Arg34=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001455714]	likely benign	5	36241697	36241697	Human	1	name
151876596	CV1372895	single nucleotide variant	NM_001085411.3(NADK2):c.264T>G (p.Arg88=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002019614]	uncertain significance	5	36241535	36241535	Human	1	name
151743243	CV1431725	single nucleotide variant	NM_001085411.3(NADK2):c.13C>G (p.Arg5Gly)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001926676]	uncertain significance	5	36241786	36241786	Human	1	name
151774473	CV1505133	single nucleotide variant	NM_001085411.3(NADK2):c.285G>A (p.Glu95=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002009160]	likely benign	5	36241514	36241514	Human	1	name
152167069	CV1524546	single nucleotide variant	NM_001085411.3(NADK2):c.120C>T (p.Asp40=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002142064]	likely benign	5	36241679	36241679	Human	1	name
156411502	CV1893253	single nucleotide variant	NM_001085411.3(NADK2):c.159C>T (p.Arg53=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003072506]	likely benign	5	36241640	36241640	Human	1	name
156399422	CV1897434	single nucleotide variant	NM_001085411.3(NADK2):c.150G>T (p.Gly50=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002584717]	likely benign	5	36241649	36241649	Human	1	name
156383718	CV2001440	single nucleotide variant	NM_001085411.3(NADK2):c.210G>A (p.Arg70=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002653837]	likely benign	5	36241589	36241589	Human	1	name
156371305	CV2174553	single nucleotide variant	NM_001085411.3(NADK2):c.261C>T (p.Tyr87=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003049720]	likely benign	5	36241538	36241538	Human	1	name
401731350	CV2701321	single nucleotide variant	NM_001085411.3(NADK2):c.11A>G (p.Tyr4Cys)	Inborn genetic diseases [RCV003271700]	uncertain significance	5	36241788	36241788	Human	1	name
405075139	CV3047286	single nucleotide variant	NM_001085411.3(NADK2):c.180C>T (p.Ser60=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003742564]	likely benign	5	36241619	36241619	Human	1	name
404997580	CV3123886	single nucleotide variant	NM_001085411.3(NADK2):c.168G>T (p.Ala56=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003827793]	likely benign	5	36241631	36241631	Human	1	name
12844394	CV368464	single nucleotide variant	NM_001085411.3(NADK2):c.258G>A (p.Arg86=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000530960]\|not provided [RCV004716432]\|not specified [RCV000437915]	benign	5	36241541	36241541	Human	1	name
12838828	CV369861	single nucleotide variant	NM_001085411.3(NADK2):c.210G>T (p.Arg70=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000642294]\|not provided [RCV004717573]\|not specified [RCV000427686]	benign	5	36241589	36241589	Human	1	name
597849900	CV3746748	single nucleotide variant	NM_001085411.3(NADK2):c.270G>A (p.Ala90=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005066145]	likely benign	5	36241529	36241529	Human	1	name
13526905	CV501569	single nucleotide variant	NM_001085411.3(NADK2):c.213G>A (p.Val71=)	not specified [RCV000604766]	likely benign	5	36241586	36241586	Human		name
151767170	CV1367259	single nucleotide variant	NM_001085411.3(NADK2):c.77C>T (p.Pro26Leu)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002025007]	uncertain significance	5	36241722	36241722	Human	1	name
156156178	CV1875469	single nucleotide variant	NM_001085411.3(NADK2):c.77C>G (p.Pro26Arg)	Inborn genetic diseases [RCV005377247]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003056721]	uncertain significance	5	36241722	36241722	Human	2	name
155930351	CV1908945	single nucleotide variant	NM_001085411.3(NADK2):c.585C>G (p.Pro195=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002614961]	likely benign	5	36219655	36219655	Human	1	name
156291688	CV2047261	single nucleotide variant	NM_001085411.3(NADK2):c.972C>T (p.Asn324=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002770799]	likely benign	5	36201146	36201146	Human	1	name
155925805	CV2073911	single nucleotide variant	NM_001085411.3(NADK2):c.489A>G (p.Thr163=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002838523]	likely benign	5	36225613	36225613	Human	1	name
156209474	CV2076879	single nucleotide variant	NM_001085411.3(NADK2):c.966T>C (p.Asn322=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002852770]	likely benign	5	36201152	36201152	Human	1	name
156060963	CV2161920	single nucleotide variant	NM_001085411.3(NADK2):c.582G>A (p.Leu194=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003019730]	likely benign	5	36219658	36219658	Human	1	name
329358452	CV2450321	single nucleotide variant	NM_001085411.3(NADK2):c.35G>A (p.Cys12Tyr)	Inborn genetic diseases [RCV003204033]	uncertain significance	5	36241764	36241764	Human	1	name
405088255	CV2880206	single nucleotide variant	NM_001085411.3(NADK2):c.339A>G (p.Glu113=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003582573]	likely benign	5	36227527	36227527	Human	1	name
405088678	CV2880816	single nucleotide variant	NM_001085411.3(NADK2):c.65C>A (p.Ala22Glu)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003582625]	uncertain significance	5	36241734	36241734	Human	1	name
405067443	CV3011446	single nucleotide variant	NM_001085411.3(NADK2):c.71G>A (p.Arg24Gln)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003742093]	uncertain significance	5	36241728	36241728	Human	1	name
405055861	CV3074331	single nucleotide variant	NM_001085411.3(NADK2):c.62C>T (p.Ala21Val)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003741042]	uncertain significance	5	36241737	36241737	Human	1	name
405083984	CV3167167	single nucleotide variant	NM_001085411.3(NADK2):c.40C>T (p.Arg14Cys)	Inborn genetic diseases [RCV004953601]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003851746]	uncertain significance	5	36241759	36241759	Human	2	name
407487735	CV3447873	single nucleotide variant	NM_001085411.3(NADK2):c.390G>C (p.Arg130=)	Inborn genetic diseases [RCV004641152]	likely benign	5	36226563	36226563	Human	1	name
12840506	CV368453	single nucleotide variant	NM_001085411.3(NADK2):c.822A>T (p.Ala274=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002522614]\|not specified [RCV000430846]	likely benign	5	36211882	36211882	Human	1	name
597950359	CV3759680	single nucleotide variant	NM_001085411.3(NADK2):c.520A>C (p.Arg174=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005079280]	likely benign	5	36225582	36225582	Human	1	name
597901570	CV3779120	single nucleotide variant	NM_001085411.3(NADK2):c.879T>C (p.Ile293=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005127197]	likely benign	5	36207247	36207247	Human	1	name
597926004	CV3855302	single nucleotide variant	NM_001085411.3(NADK2):c.47C>T (p.Ala16Val)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005205901]	benign	5	36241752	36241752	Human	1	name
597877039	CV3860206	single nucleotide variant	NM_001085411.3(NADK2):c.354C>T (p.His118=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005198415]	likely benign	5	36227512	36227512	Human	1	name
598159115	CV3987135	single nucleotide variant	NM_001085411.3(NADK2):c.56G>A (p.Arg19Gln)	Inborn genetic diseases [RCV005390077]	uncertain significance	5	36241743	36241743	Human	1	name
13537398	CV501191	single nucleotide variant	NM_001085411.3(NADK2):c.951G>A (p.Lys317=)	not specified [RCV000610351]	likely benign	5	36207175	36207175	Human		name
13530431	CV501337	single nucleotide variant	NM_001085411.3(NADK2):c.531A>G (p.Pro177=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002065401]\|not specified [RCV000606122]	likely benign	5	36225571	36225571	Human	1	name
13536634	CV501567	single nucleotide variant	NM_001085411.3(NADK2):c.421A>C (p.Arg141=)	not specified [RCV000609284]	likely benign	5	36226532	36226532	Human		name
13612515	CV521783	single nucleotide variant	NM_001085411.3(NADK2):c.864T>C (p.Ala288=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000642295]	likely benign	5	36207262	36207262	Human	1	name
14711393	CV633944	single nucleotide variant	NM_001085411.3(NADK2):c.561G>A (p.Arg187=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000793436]	likely benign\|uncertain significance	5	36219679	36219679	Human	1	name
15199752	CV749478	single nucleotide variant	NM_001085411.3(NADK2):c.615C>A (p.Ala205=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000912641]	likely benign	5	36219625	36219625	Human	1	name
15129561	CV749479	single nucleotide variant	NM_001085411.3(NADK2):c.510A>G (p.Lys170=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002540965]	likely benign	5	36225592	36225592	Human	1	name
15119566	CV749480	single nucleotide variant	NM_001085411.3(NADK2):c.420G>A (p.Lys140=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002542155]	likely benign	5	36226533	36226533	Human	1	name
26893171	CV830846	single nucleotide variant	NM_001085411.3(NADK2):c.450A>G (p.Arg150=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001047230]	likely benign\|uncertain significance	5	36226503	36226503	Human	1	name
26885691	CV830847	single nucleotide variant	NM_001085411.3(NADK2):c.52G>A (p.Gly18Ser)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001065598]	uncertain significance	5	36241747	36241747	Human	1	name
126762479	CV1026623	single nucleotide variant	NM_001085411.3(NADK2):c.182G>A (p.Arg61His)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001340983]	likely benign\|uncertain significance	5	36241617	36241617	Human	1	name
126768419	CV1026624	single nucleotide variant	NM_001085411.3(NADK2):c.181C>G (p.Arg61Gly)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001343345]	uncertain significance	5	36241618	36241618	Human	1	name
151769421	CV1410586	deletion	NM_001085411.3(NADK2):c.784del (p.Ser262fs)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001988092]	uncertain significance	5	36211920	36211920	Human	1	name
151719555	CV1505881	single nucleotide variant	NM_001085411.3(NADK2):c.169G>C (p.Gly57Arg)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002039867]	uncertain significance	5	36241630	36241630	Human	1	name
151714880	CV1510518	single nucleotide variant	NM_001085411.3(NADK2):c.185C>G (p.Ala62Gly)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001965031]	uncertain significance	5	36241614	36241614	Human	1	name
152031171	CV1632515	single nucleotide variant	NM_001085411.3(NADK2):c.1221C>G (p.Ala407=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002124492]	likely benign	5	36195252	36195252	Human	1	name
152092292	CV1647227	single nucleotide variant	NM_001085411.3(NADK2):c.1176T>C (p.Arg392=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002150743]	likely benign	5	36197555	36197555	Human	1	name
153305144	CV1687552	single nucleotide variant	NM_001085411.3(NADK2):c.1152A>G (p.Arg384=)	not provided [RCV002263373]	likely benign	5	36197579	36197579	Human		name
156183170	CV1898229	single nucleotide variant	NM_001085411.3(NADK2):c.1090C>T (p.Leu364=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002595129]	likely benign	5	36197641	36197641	Human	1	name
156096563	CV2010691	single nucleotide variant	NM_001085411.3(NADK2):c.184G>C (p.Ala62Pro)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002695139]	uncertain significance	5	36241615	36241615	Human	1	name
155970581	CV2030792	single nucleotide variant	NM_001085411.3(NADK2):c.103C>T (p.Pro35Ser)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002731603]	uncertain significance	5	36241696	36241696	Human	1	name
156119091	CV2035774	single nucleotide variant	NM_001085411.3(NADK2):c.158G>A (p.Arg53His)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002785717]	uncertain significance	5	36241641	36241641	Human	1	name
155996083	CV2122586	single nucleotide variant	NM_001085411.3(NADK2):c.1056G>A (p.Leu352=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002974958]	likely benign	5	36200237	36200237	Human	1	name
155938793	CV2135245	single nucleotide variant	NM_001085411.3(NADK2):c.166G>A (p.Ala56Thr)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002993914]	uncertain significance	5	36241633	36241633	Human	1	name
155958261	CV2138099	single nucleotide variant	NM_001085411.3(NADK2):c.100C>T (p.Arg34Trp)	Inborn genetic diseases [RCV004065115]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002972247]	uncertain significance	5	36241699	36241699	Human	2	name
155979710	CV2140302	single nucleotide variant	NM_001085411.3(NADK2):c.239A>G (p.Tyr80Cys)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002996036]	uncertain significance	5	36241560	36241560	Human	1	name
156234224	CV2173237	single nucleotide variant	NM_001085411.3(NADK2):c.136C>T (p.His46Tyr)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003059422]	uncertain significance	5	36241663	36241663	Human	1	name
156232880	CV2227711	single nucleotide variant	NM_001085411.3(NADK2):c.113G>T (p.Gly38Val)	Inborn genetic diseases [RCV002712875]	uncertain significance	5	36241686	36241686	Human	1	name
401883989	CV2785825	single nucleotide variant	NM_001085411.3(NADK2):c.232A>T (p.Thr78Ser)	Inborn genetic diseases [RCV003386330]	uncertain significance	5	36241567	36241567	Human	1	name
405089456	CV2899964	single nucleotide variant	NM_001085411.3(NADK2):c.1014A>G (p.Ala338=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003582669]	likely benign	5	36200279	36200279	Human	1	name
405076899	CV2902298	single nucleotide variant	NM_001085411.3(NADK2):c.1248T>G (p.Ser416=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003581514]	likely benign	5	36195225	36195225	Human	1	name
405092943	CV2911560	single nucleotide variant	NM_001085411.3(NADK2):c.107G>A (p.Arg36Gln)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003583037]	uncertain significance	5	36241692	36241692	Human	1	name
405072106	CV3032489	single nucleotide variant	NM_001085411.3(NADK2):c.1236T>C (p.Asp412=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003742446]	likely benign	5	36195237	36195237	Human	1	name
405266680	CV3186684	single nucleotide variant	NM_001085411.3(NADK2):c.1305T>G (p.Leu435=)	not provided [RCV003886765]	likely benign	5	36195168	36195168	Human		name
597943962	CV3754921	single nucleotide variant	NM_001085411.3(NADK2):c.1095C>G (p.Leu365=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005078110]	likely benign	5	36197636	36197636	Human	1	name
597835240	CV3760930	single nucleotide variant	NM_001085411.3(NADK2):c.1042T>C (p.Leu348=)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005085481]	likely benign	5	36200251	36200251	Human	1	name
597971916	CV3794047	single nucleotide variant	NM_001085411.3(NADK2):c.242A>T (p.Glu81Val)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005142413]	uncertain significance	5	36241557	36241557	Human	1	name
597960503	CV3811906	single nucleotide variant	NM_001085411.3(NADK2):c.202C>T (p.Pro68Ser)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005163559]	uncertain significance	5	36241597	36241597	Human	1	name
597924852	CV3840474	single nucleotide variant	NM_001085411.3(NADK2):c.167C>T (p.Ala56Val)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005184945]	uncertain significance	5	36241632	36241632	Human	1	name
597892608	CV3856748	single nucleotide variant	NM_001085411.3(NADK2):c.203C>A (p.Pro68His)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005200816]	uncertain significance	5	36241596	36241596	Human	1	name
598204846	CV3987131	single nucleotide variant	NM_001085411.3(NADK2):c.140T>A (p.Leu47Gln)	Inborn genetic diseases [RCV005376664]	uncertain significance	5	36241659	36241659	Human	1	name
13592626	CV501331	single nucleotide variant	NM_001085411.3(NADK2):c.1149T>C (p.Asn383=)	not specified [RCV000605378]	likely benign	5	36197582	36197582	Human		name
15136625	CV765108	single nucleotide variant	NM_001085411.3(NADK2):c.1218T>C (p.Asp406=)	not provided [RCV000943108]	likely benign	5	36195255	36195255	Human		name
126759997	CV990946	single nucleotide variant	NM_001085411.3(NADK2):c.283G>T (p.Glu95Ter)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001309179]	uncertain significance	5	36241516	36241516	Human	1	name
126765878	CV990947	single nucleotide variant	NM_001085411.3(NADK2):c.110T>C (p.Leu37Pro)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001301661]	uncertain significance	5	36241689	36241689	Human	1	name
126728329	CV1016562	single nucleotide variant	NM_001085411.3(NADK2):c.773A>G (p.His258Arg)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001332799]	uncertain significance	5	36217756	36217756	Human	1	name
151792054	CV1341391	single nucleotide variant	NM_001085411.3(NADK2):c.749G>C (p.Arg250Thr)	Inborn genetic diseases [RCV002547909]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001866339]	uncertain significance	5	36217780	36217780	Human	2	name
151840701	CV1342148	single nucleotide variant	NM_001085411.3(NADK2):c.703C>T (p.Pro235Ser)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001956714]	uncertain significance	5	36217826	36217826	Human	1	name
151761296	CV1343350	single nucleotide variant	NM_001085411.3(NADK2):c.343C>A (p.His115Asn)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002024397]	uncertain significance	5	36227523	36227523	Human	1	name
151845180	CV1345964	single nucleotide variant	NM_001085411.3(NADK2):c.803A>G (p.Gln268Arg)	Inborn genetic diseases [RCV004043070]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001936614]	uncertain significance	5	36211901	36211901	Human	2	name
151863912	CV1374518	single nucleotide variant	NM_001085411.3(NADK2):c.692T>C (p.Ile231Thr)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001884299]	uncertain significance	5	36217837	36217837	Human	1	name
151753577	CV1407301	single nucleotide variant	NM_001085411.3(NADK2):c.839T>C (p.Ile280Thr)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002023638]\|not provided [RCV005421076]	uncertain significance	5	36211865	36211865	Human	1	name
151802859	CV1437705	single nucleotide variant	NM_001085411.3(NADK2):c.386T>C (p.Leu129Ser)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001899224]	uncertain significance	5	36227480	36227480	Human	1	name
151776215	CV1449858	single nucleotide variant	NM_001085411.3(NADK2):c.350T>C (p.Ile117Thr)	Inborn genetic diseases [RCV004040523]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001864538]	uncertain significance	5	36227516	36227516	Human	2	name
151709216	CV1460972	single nucleotide variant	NM_001085411.3(NADK2):c.491T>C (p.Met164Thr)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001889011]	uncertain significance	5	36225611	36225611	Human	1	name
151713908	CV1476853	single nucleotide variant	NM_001085411.3(NADK2):c.613G>A (p.Ala205Thr)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001908573]	uncertain significance	5	36219627	36219627	Human	1	name
151876039	CV1489927	single nucleotide variant	NM_001085411.3(NADK2):c.783G>T (p.Arg261Ser)	Inborn genetic diseases [RCV003167210]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001940408]	uncertain significance	5	36211921	36211921	Human	2	name
151892627	CV1493796	single nucleotide variant	NM_001085411.3(NADK2):c.620A>G (p.Gln207Arg)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001944313]	uncertain significance	5	36219620	36219620	Human	1	name
151810410	CV1497343	single nucleotide variant	NM_001085411.3(NADK2):c.672A>T (p.Leu224Phe)	Inborn genetic diseases [RCV002562760]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001974713]	uncertain significance	5	36217857	36217857	Human	2	name
155715919	CV1774148	single nucleotide variant	NM_001085411.3(NADK2):c.458A>T (p.Asp153Val)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002296425]	uncertain significance	5	36226495	36226495	Human	1	name
156397926	CV1880844	single nucleotide variant	NM_001085411.3(NADK2):c.410G>A (p.Arg137His)	Inborn genetic diseases [RCV004960968]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003068841]	uncertain significance	5	36226543	36226543	Human	2	name
156163794	CV2019586	single nucleotide variant	NM_001085411.3(NADK2):c.448C>T (p.Arg150Ter)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002710269]	uncertain significance	5	36226505	36226505	Human	1	name
156291669	CV2047260	single nucleotide variant	NM_001085411.3(NADK2):c.409C>T (p.Arg137Cys)	Inborn genetic diseases [RCV003358000]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002770798]	uncertain significance	5	36226544	36226544	Human	2	name
156107626	CV2089315	single nucleotide variant	NM_001085411.3(NADK2):c.739C>T (p.Gln247Ter)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002848320]	uncertain significance	5	36217790	36217790	Human	1	name
156251510	CV2116975	single nucleotide variant	NM_001085411.3(NADK2):c.722A>G (p.Gln241Arg)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002933566]	uncertain significance	5	36217807	36217807	Human	1	name
156389836	CV2122349	single nucleotide variant	NM_001085411.3(NADK2):c.611A>G (p.Glu204Gly)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002943780]	uncertain significance	5	36219629	36219629	Human	1	name
155996103	CV2122587	single nucleotide variant	NM_001085411.3(NADK2):c.492G>T (p.Met164Ile)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002974959]	uncertain significance	5	36225610	36225610	Human	1	name
155915005	CV2155750	single nucleotide variant	NM_001085411.3(NADK2):c.394G>A (p.Glu132Lys)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002991600]	uncertain significance	5	36226559	36226559	Human	1	name
156149966	CV2213034	single nucleotide variant	NM_001085411.3(NADK2):c.397G>A (p.Gly133Arg)	Inborn genetic diseases [RCV002697581]	uncertain significance	5	36226556	36226556	Human	1	name
156075245	CV2248230	single nucleotide variant	NM_001085411.3(NADK2):c.373A>G (p.Ile125Val)	Inborn genetic diseases [RCV002783404]	uncertain significance	5	36227493	36227493	Human	1	name
156260312	CV2322290	single nucleotide variant	NM_001085411.3(NADK2):c.673T>C (p.Tyr225His)	Inborn genetic diseases [RCV002959708]	uncertain significance	5	36217856	36217856	Human	1	name
243054550	CV2410583	single nucleotide variant	NM_001085411.3(NADK2):c.686C>G (p.Thr229Ser)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003131678]	uncertain significance	5	36217843	36217843	Human	1	name
243056687	CV2410584	single nucleotide variant	NM_001085411.3(NADK2):c.760A>G (p.Ile254Val)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003132821]	uncertain significance	5	36217769	36217769	Human	1	name
329387430	CV2436458	single nucleotide variant	NM_001085411.3(NADK2):c.406G>T (p.Val136Phe)	Inborn genetic diseases [RCV003190099]	uncertain significance	5	36226547	36226547	Human	1	name
405088659	CV2906504	single nucleotide variant	NM_001085411.3(NADK2):c.746A>G (p.Asn249Ser)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003582696]	uncertain significance	5	36217783	36217783	Human	1	name
405074297	CV3038192	single nucleotide variant	NM_001085411.3(NADK2):c.340C>T (p.Arg114Ter)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003742439]	uncertain significance	5	36227526	36227526	Human	1	name
405051813	CV3045083	single nucleotide variant	NM_001085411.3(NADK2):c.569G>T (p.Gly190Val)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003740678]	uncertain significance	5	36219671	36219671	Human	1	name
405053572	CV3058762	single nucleotide variant	NM_001085411.3(NADK2):c.965A>G (p.Asn322Ser)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003740848]	uncertain significance	5	36201153	36201153	Human	1	name
402473300	CV3172148	single nucleotide variant	NM_001085411.3(NADK2):c.559C>T (p.Arg187Trp)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003874751]	uncertain significance	5	36225543	36225543	Human	1	name
405743672	CV3331192	single nucleotide variant	NM_001085411.3(NADK2):c.769G>A (p.Ala257Thr)	Inborn genetic diseases [RCV004466103]	uncertain significance	5	36217760	36217760	Human	1	name
405743544	CV3335061	single nucleotide variant	NM_001085411.3(NADK2):c.463G>A (p.Val155Ile)	Inborn genetic diseases [RCV004466084]	uncertain significance	5	36226490	36226490	Human	1	name
407520639	CV3447874	single nucleotide variant	NM_001085411.3(NADK2):c.976G>A (p.Val326Ile)	Inborn genetic diseases [RCV004652249]	uncertain significance	5	36201142	36201142	Human	1	name
12845286	CV368459	single nucleotide variant	NM_001085411.3(NADK2):c.632G>A (p.Arg211His)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001520401]\|not provided [RCV003430986]\|not specified [RCV000439542]	benign	5	36219608	36219608	Human	8	name
12846266	CV368625	single nucleotide variant	NM_001085411.3(NADK2):c.359A>G (p.Lys120Arg)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001512827]\|not provided [RCV004717574]\|not specified [RCV000441322]	benign	5	36227507	36227507	Human	1	name
597719674	CV3721886	single nucleotide variant	NM_001085411.3(NADK2):c.838A>T (p.Ile280Phe)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005035617]	uncertain significance	5	36211866	36211866	Human	1	name
597974865	CV3802216	single nucleotide variant	NM_001085411.3(NADK2):c.586G>A (p.Val196Ile)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005143992]	uncertain significance	5	36219654	36219654	Human	1	name
597959738	CV3811456	single nucleotide variant	NM_001085411.3(NADK2):c.629A>T (p.Tyr210Phe)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005163302]	uncertain significance	5	36219611	36219611	Human	1	name
597953617	CV3844034	single nucleotide variant	NM_001085411.3(NADK2):c.886G>A (p.Asp296Asn)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005190896]	uncertain significance	5	36207240	36207240	Human	1	name
597872074	CV3849432	single nucleotide variant	NM_001085411.3(NADK2):c.998A>G (p.Asp333Gly)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV005197613]	uncertain significance	5	36201120	36201120	Human	1	name
598204850	CV3987132	single nucleotide variant	NM_001085411.3(NADK2):c.876G>T (p.Glu292Asp)	Inborn genetic diseases [RCV005376665]	uncertain significance	5	36207250	36207250	Human	1	name
13446314	CV438291	single nucleotide variant	NM_001085411.3(NADK2):c.449G>A (p.Arg150Gln)	Inborn genetic diseases [RCV003243163]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001857323]\|not provided [RCV000513557]	uncertain significance	5	36226504	36226504	Human	2	name
13809046	CV565128	single nucleotide variant	NM_001085411.3(NADK2):c.388C>T (p.Arg130Trp)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000701924]	uncertain significance	5	36227478	36227478	Human	1	name
15189065	CV721442	single nucleotide variant	NM_001085411.3(NADK2):c.349A>G (p.Ile117Val)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001087543]\|not provided [RCV000887715]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	5	36227517	36227517	Human	1	name
21069074	CV795696	single nucleotide variant	NM_001085411.3(NADK2):c.670T>A (p.Leu224Ile)	not provided [RCV000998369]	uncertain significance	5	36217859	36217859	Human		name
38477617	CV924069	single nucleotide variant	NM_001085411.3(NADK2):c.777T>A (p.Asp259Glu)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001216222]	uncertain significance	5	36217752	36217752	Human	1	name
38486489	CV932909	single nucleotide variant	NM_001085411.3(NADK2):c.590G>A (p.Arg197Gln)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001208912]	uncertain significance	5	36219650	36219650	Human	1	name
38467859	CV954172	single nucleotide variant	NM_001085411.3(NADK2):c.619C>A (p.Gln207Lys)	Inborn genetic diseases [RCV004034910]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001247932]	uncertain significance	5	36219621	36219621	Human	2	name
151889897	CV1350370	single nucleotide variant	NM_001085411.3(NADK2):c.1310C>T (p.Thr437Ile)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002038693]	uncertain significance	5	36195163	36195163	Human	1	name
151880474	CV1360044	single nucleotide variant	NM_001085411.3(NADK2):c.1047C>G (p.Asn349Lys)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002036799]	uncertain significance	5	36200246	36200246	Human	1	name
151788142	CV1386918	deletion	NM_001085411.3(NADK2):c.95_107del (p.Ala32fs)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001931136]	uncertain significance	5	36241692	36241704	Human	1	name
151775857	CV1424311	single nucleotide variant	NM_001085411.3(NADK2):c.1133G>A (p.Arg378Gln)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002025798]	uncertain significance	5	36197598	36197598	Human	1	name
151713088	CV1441268	single nucleotide variant	NM_001085411.3(NADK2):c.1277C>T (p.Ser426Leu)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001964680]	uncertain significance	5	36195196	36195196	Human	1	name
151850802	CV1461936	single nucleotide variant	NM_001085411.3(NADK2):c.1006A>G (p.Asn336Asp)	Inborn genetic diseases [RCV005374927]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001978908]	uncertain significance	5	36201112	36201112	Human	2	name
151855470	CV1466476	single nucleotide variant	NM_001085411.3(NADK2):c.1103C>T (p.Pro368Leu)	Inborn genetic diseases [RCV004953242]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001883284]\|not provided [RCV002508324]	uncertain significance	5	36197628	36197628	Human	2	name
9589548	CV166025	single nucleotide variant	NM_001085411.3(NADK2):c.1018C>T (p.Arg340Ter)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000144251]	pathogenic\|likely pathogenic	5	36200275	36200275	Human	1	name
156399225	CV1897400	single nucleotide variant	NM_001085411.3(NADK2):c.1019G>A (p.Arg340Gln)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002584697]	uncertain significance	5	36200274	36200274	Human	1	name
156139940	CV1921700	single nucleotide variant	NM_001085411.3(NADK2):c.1168C>T (p.Arg390Cys)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002623620]	uncertain significance	5	36197563	36197563	Human	1	name
156256893	CV1981957	single nucleotide variant	NM_001085411.3(NADK2):c.1073A>G (p.Asn358Ser)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002646082]	uncertain significance	5	36197658	36197658	Human	1	name
156140219	CV2044447	single nucleotide variant	NM_001085411.3(NADK2):c.1202G>A (p.Arg401His)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002800922]	uncertain significance	5	36195271	36195271	Human	1	name
329365975	CV2437936	single nucleotide variant	NM_001085411.3(NADK2):c.1296A>T (p.Glu432Asp)	Inborn genetic diseases [RCV003207495]	uncertain significance	5	36195177	36195177	Human	1	name
405070678	CV2891690	single nucleotide variant	NM_001085411.3(NADK2):c.1175G>A (p.Arg392His)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003581100]	uncertain significance	5	36197556	36197556	Human	1	name
405065787	CV2991414	single nucleotide variant	NM_001085411.3(NADK2):c.1235A>G (p.Asp412Gly)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003741965]	uncertain significance	5	36195238	36195238	Human	1	name
405054994	CV3070790	single nucleotide variant	NM_001085411.3(NADK2):c.1229T>C (p.Val410Ala)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003740975]	uncertain significance	5	36195244	36195244	Human	1	name
402502875	CV3181134	single nucleotide variant	NM_001085411.3(NADK2):c.1210T>G (p.Cys404Gly)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003878151]	uncertain significance	5	36195263	36195263	Human	1	name
597712263	CV3555524	single nucleotide variant	NM_001085411.3(NADK2):c.1307G>A (p.Arg436Gln)	Inborn genetic diseases [RCV004959287]	uncertain significance	5	36195166	36195166	Human	1	name
598204841	CV3987130	single nucleotide variant	NM_001085411.3(NADK2):c.1289A>G (p.Asn430Ser)	Inborn genetic diseases [RCV005376663]	uncertain significance	5	36195184	36195184	Human	1	name
598204856	CV3987134	single nucleotide variant	NM_001085411.3(NADK2):c.1175G>C (p.Arg392Pro)	Inborn genetic diseases [RCV005376666]	uncertain significance	5	36197556	36197556	Human	1	name
38474741	CV944621	single nucleotide variant	NM_001085411.3(NADK2):c.1270A>G (p.Ile424Val)	Inborn genetic diseases [RCV005372608]\|Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001232342]	uncertain significance	5	36195203	36195203	Human	2	name
151724021	CV1425270	duplication	NM_001085411.3(NADK2):c.130_136dup (p.His46fs)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV001891493]	uncertain significance	5	36241662	36241663	Human	1	name
155947613	CV1935732	duplication	NM_001085411.3(NADK2):c.161_186dup (p.Asp63fs)	not provided [RCV002511483]	likely pathogenic	5	36241612	36241613	Human		name
156238989	CV2115786	microsatellite	NM_001085411.3(NADK2):c.212TGG[3] (p.Val74del)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV002919226]	uncertain significance	5	36241576	36241578	Human		name
402467873	CV3174099	duplication	NM_001085411.3(NADK2):c.600_601dup (p.Ser201fs)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV003873382]	uncertain significance	5	36219638	36219639	Human	1	name
14726773	CV633945	indel	NM_001085411.3(NADK2):c.99_100delinsAT (p.Arg34Trp)	Progressive encephalopathy with leukodystrophy due to DECR deficiency [RCV000815781]	uncertain significance	5	36241699	36241700	Human		name

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