Pla2g6 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

1001 records found for search term Pla2g6

Refine Term:

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150427185	CV1188999	single nucleotide variant	NM_003560.4(PLA2G6):c.*81G>T	not provided [RCV001560599]	likely benign	22	38112080	38112080	Human		name
10404596	CV208791	single nucleotide variant	NM_003560.4(PLA2G6):c.*19C>T	not specified [RCV000194041]	uncertain significance	22	38112142	38112142	Human		name
11626418	CV347767	single nucleotide variant	NM_003560.4(PLA2G6):c.-20C>A	PLA2G6-associated neurodegeneration [RCV000263631]	uncertain significance	22	38169446	38169446	Human	1	name
11629661	CV347770	single nucleotide variant	NM_003560.4(PLA2G6):c.-31C>T	PLA2G6-associated neurodegeneration [RCV000330592]	uncertain significance	22	38169457	38169457	Human	1	name
11630664	CV351610	single nucleotide variant	NM_003560.4(PLA2G6):c.-15C>T	PLA2G6-associated neurodegeneration [RCV000356135]	uncertain significance	22	38169441	38169441	Human	1	name
28880186	CV891299	single nucleotide variant	NM_003560.4(PLA2G6):c.*35C>T	PLA2G6-associated neurodegeneration [RCV001149227]	uncertain significance	22	38112126	38112126	Human	1	name
150422420	CV1181996	single nucleotide variant	NM_003560.4(PLA2G6):c.*230C>G	not provided [RCV001552610]	likely benign	22	38111931	38111931	Human		name
150499649	CV1209115	single nucleotide variant	NM_003560.4(PLA2G6):c.*148C>T	not provided [RCV001594333]	likely benign	22	38112013	38112013	Human		name
11614632	CV338113	single nucleotide variant	NM_003560.4(PLA2G6):c.*541C>T	PLA2G6-associated neurodegeneration [RCV000278417]	uncertain significance	22	38111620	38111620	Human	1	name
11627514	CV347750	single nucleotide variant	NM_003560.4(PLA2G6):c.*589C>G	PLA2G6-associated neurodegeneration [RCV000284289]	likely benign\|uncertain significance	22	38111572	38111572	Human	1	name
11656726	CV347751	single nucleotide variant	NM_003560.4(PLA2G6):c.*473C>T	PLA2G6-associated neurodegeneration [RCV000335917]	uncertain significance	22	38111688	38111688	Human	1	name
11632167	CV347753	single nucleotide variant	NM_003560.4(PLA2G6):c.*350C>A	PLA2G6-associated neurodegeneration [RCV000400315]\|not provided [RCV004713787]	benign\|likely benign	22	38111811	38111811	Human	1	name
11658391	CV351604	single nucleotide variant	NM_003560.4(PLA2G6):c.*191C>T	PLA2G6-associated neurodegeneration [RCV000348792]	uncertain significance	22	38111970	38111970	Human	1	name
11654061	CV351607	single nucleotide variant	NM_003560.4(PLA2G6):c.*160T>C	PLA2G6-associated neurodegeneration [RCV000314953]\|not provided [RCV004694677]	uncertain significance	22	38112001	38112001	Human	1	name
11655102	CV352549	single nucleotide variant	NM_003560.4(PLA2G6):c.*565C>G	PLA2G6-associated neurodegeneration [RCV000322992]	uncertain significance	22	38111596	38111596	Human	1	name
11631493	CV352550	single nucleotide variant	NM_003560.4(PLA2G6):c.*548C>G	PLA2G6-associated neurodegeneration [RCV000379817]	uncertain significance	22	38111613	38111613	Human	1	name
11627404	CV352551	single nucleotide variant	NM_003560.4(PLA2G6):c.*301G>A	PLA2G6-associated neurodegeneration [RCV000282083]	benign\|uncertain significance	22	38111860	38111860	Human	1	name
11662566	CV352561	single nucleotide variant	NM_003560.4(PLA2G6):c.-129C>T	PLA2G6-associated neurodegeneration [RCV000387379]	uncertain significance	22	38181747	38181747	Human	1	name
28904575	CV891296	single nucleotide variant	NM_003560.4(PLA2G6):c.*620G>A	PLA2G6-associated neurodegeneration [RCV001144532]	uncertain significance	22	38111541	38111541	Human	1	name
28872804	CV891297	single nucleotide variant	NM_003560.4(PLA2G6):c.*515C>T	PLA2G6-associated neurodegeneration [RCV001146455]	uncertain significance	22	38111646	38111646	Human	1	name
28872808	CV891298	single nucleotide variant	NM_003560.4(PLA2G6):c.*493C>G	PLA2G6-associated neurodegeneration [RCV001146456]	uncertain significance	22	38111668	38111668	Human	1	name
28873300	CV891309	single nucleotide variant	NM_003560.4(PLA2G6):c.-130C>T	PLA2G6-associated neurodegeneration [RCV001146691]\|not provided [RCV004714190]	benign	22	38181748	38181748	Human	1	name
28904570	CV891833	single nucleotide variant	NM_003560.2(PLA2G6):c.*676T>C	PLA2G6-associated neurodegeneration [RCV001144530]	uncertain significance	22	38111485	38111485	Human	1	name
28904572	CV891834	single nucleotide variant	NM_003560.2(PLA2G6):c.*672G>A	PLA2G6-associated neurodegeneration [RCV001144531]	uncertain significance	22	38111489	38111489	Human	1	name
151813162	CV1367749	single nucleotide variant	NM_003560.4(PLA2G6):c.209+4G>A	Infantile neuroaxonal dystrophy [RCV001878476]	uncertain significance	22	38169214	38169214	Human	1	name
151869983	CV1375296	single nucleotide variant	NM_003560.4(PLA2G6):c.798-3C>T	Infantile neuroaxonal dystrophy [RCV001960291]	uncertain significance	22	38135087	38135087	Human	1	name
151878206	CV1475938	single nucleotide variant	NM_003560.4(PLA2G6):c.209+2T>G	Infantile neuroaxonal dystrophy [RCV002019802]	likely pathogenic	22	38169216	38169216	Human	1	name
151877187	CV1480831	single nucleotide variant	NM_003560.4(PLA2G6):c.426-3C>T	Infantile neuroaxonal dystrophy [RCV001982049]	uncertain significance	22	38143291	38143291	Human	1	name
152146210	CV1658487	single nucleotide variant	NM_003560.4(PLA2G6):c.798-6C>G	Infantile neuroaxonal dystrophy [RCV002220086]	likely benign	22	38135090	38135090	Human	1	name
402498568	CV2887615	single nucleotide variant	NM_003560.4(PLA2G6):c.798-6C>T	Infantile neuroaxonal dystrophy [RCV003508462]	likely benign	22	38135090	38135090	Human	1	name
402499359	CV2888543	single nucleotide variant	NM_003560.4(PLA2G6):c.426-9C>T	Infantile neuroaxonal dystrophy [RCV003508544]	likely benign	22	38143297	38143297	Human	1	name
402493015	CV2926512	single nucleotide variant	NM_003560.4(PLA2G6):c.210-4A>C	Infantile neuroaxonal dystrophy [RCV003507845]	likely benign	22	38145657	38145657	Human	1	name
405113285	CV2937894	single nucleotide variant	NM_003560.4(PLA2G6):c.210-4A>G	Infantile neuroaxonal dystrophy [RCV003616011]	likely benign	22	38145657	38145657	Human	1	name
405113096	CV2946865	single nucleotide variant	NM_003560.4(PLA2G6):c.426-4G>T	Infantile neuroaxonal dystrophy [RCV003615980]	likely benign	22	38143292	38143292	Human	1	name
405113301	CV2947560	single nucleotide variant	NM_003560.4(PLA2G6):c.798-1G>T	Infantile neuroaxonal dystrophy [RCV003616014]	likely pathogenic	22	38135085	38135085	Human	1	name
405113721	CV2949445	single nucleotide variant	NM_003560.4(PLA2G6):c.610-6C>T	Infantile neuroaxonal dystrophy [RCV003616064]	likely benign	22	38140175	38140175	Human	1	name
405120525	CV3020904	single nucleotide variant	NM_003560.4(PLA2G6):c.895-4G>A	Infantile neuroaxonal dystrophy [RCV003616990]	likely benign	22	38133017	38133017	Human	1	name
405112125	CV3071538	single nucleotide variant	NM_003560.4(PLA2G6):c.895-7C>T	Infantile neuroaxonal dystrophy [RCV003615731]	likely benign	22	38133020	38133020	Human	1	name
405149842	CV3123279	single nucleotide variant	NM_003560.4(PLA2G6):c.426-6C>T	Infantile neuroaxonal dystrophy [RCV003817512]	likely benign	22	38143294	38143294	Human	1	name
405855262	CV3394024	single nucleotide variant	NM_003560.4(PLA2G6):c.609+2T>C	Neurodegeneration with brain iron accumulation 2B [RCV004547250]	likely pathogenic	22	38143103	38143103	Human	1	name
597694936	CV3727209	single nucleotide variant	NM_003560.4(PLA2G6):c.210-1G>A	Infantile neuroaxonal dystrophy [RCV005032847]	likely pathogenic	22	38145654	38145654	Human	1	name
13480079	CV442352	single nucleotide variant	NM_003560.4(PLA2G6):c.209+6T>C	Infantile neuroaxonal dystrophy [RCV001851450]\|not provided [RCV005367365]\|not specified [RCV000517165]	uncertain significance	22	38169212	38169212	Human	1	name
14711995	CV653620	single nucleotide variant	NM_003560.4(PLA2G6):c.425+3G>T	Inborn genetic diseases [RCV002535506]\|Infantile neuroaxonal dystrophy [RCV000819428]	uncertain significance	22	38145435	38145435	Human	2	name
15113305	CV695877	single nucleotide variant	NM_003560.4(PLA2G6):c.895-5C>T	Infantile neuroaxonal dystrophy [RCV000872713]\|PLA2G6-associated neurodegeneration [RCV001147488]\|not provided [RCV001796291]	likely benign\|uncertain significance	22	38133018	38133018	Human	1	name
15109478	CV695878	duplication	NM_003560.4(PLA2G6):c.209+9dup	Infantile neuroaxonal dystrophy [RCV000871909]\|PLA2G6-related disorder [RCV003938307]	likely benign	22	38169208	38169209	Human	1	name , alternate_id
28875087	CV891836	single nucleotide variant	NM_003560.4(PLA2G6):c.894+8G>A	PLA2G6-associated neurodegeneration [RCV001147489]	uncertain significance	22	38134980	38134980	Human	1	name
28875089	CV891837	single nucleotide variant	NM_003560.4(PLA2G6):c.894+6T>G	PLA2G6-associated neurodegeneration [RCV001147490]	uncertain significance	22	38134982	38134982	Human	1	name
38458659	CV918470	single nucleotide variant	NM_003560.4(PLA2G6):c.610-1G>T	Infantile neuroaxonal dystrophy [RCV005029740]\|Infantile neuroaxonal dystrophy [RCV005094042]\|PLA2G6-associated neurodegeneration [RCV001195284]	pathogenic\|likely pathogenic	22	38140170	38140170	Human	1	name
127269669	CV1086016	single nucleotide variant	NM_003560.4(PLA2G6):c.1742+8C>T	Infantile neuroaxonal dystrophy [RCV001404770]	likely benign	22	38120751	38120751	Human	1	name
127309905	CV1159173	single nucleotide variant	NM_003560.4(PLA2G6):c.209+16C>T	Infantile neuroaxonal dystrophy [RCV001518070]\|not provided [RCV001579651]\|not specified [RCV001700770]	benign\|likely benign	22	38169202	38169202	Human	1	name
150411442	CV1178622	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+1G>A	not provided [RCV001547164]	likely pathogenic	22	38113486	38113486	Human		name
150426156	CV1185685	single nucleotide variant	NM_003560.4(PLA2G6):c.894+47G>A	not provided [RCV001558986]	likely benign	22	38134941	38134941	Human		name
150410741	CV1192397	single nucleotide variant	NM_003560.4(PLA2G6):c.609+27T>C	not provided [RCV001566210]	likely benign	22	38143078	38143078	Human		name
150470719	CV1209380	single nucleotide variant	NM_003560.4(PLA2G6):c.894+40G>A	not provided [RCV001588491]	likely benign	22	38134948	38134948	Human		name
150514658	CV1212088	single nucleotide variant	NM_003560.4(PLA2G6):c.-45-52G>A	not provided [RCV001599157]	benign	22	38169523	38169523	Human		name
150503083	CV1212396	single nucleotide variant	NM_003560.4(PLA2G6):c.894+80C>T	not provided [RCV001595271]	benign	22	38134908	38134908	Human		name
150515864	CV1216357	single nucleotide variant	NM_003560.4(PLA2G6):c.797+35C>T	not provided [RCV001608548]	benign	22	38139947	38139947	Human		name
150515284	CV1217440	single nucleotide variant	NM_003560.4(PLA2G6):c.609+28G>T	not provided [RCV001608346]	benign	22	38143077	38143077	Human		name
150430491	CV1230906	single nucleotide variant	NM_003560.4(PLA2G6):c.210-93G>A	not provided [RCV001641455]	benign	22	38145746	38145746	Human		name
150470037	CV1247921	single nucleotide variant	NM_003560.4(PLA2G6):c.609+53G>A	not provided [RCV001670957]	benign	22	38143052	38143052	Human		name
150458226	CV1269602	single nucleotide variant	NM_003560.4(PLA2G6):c.797+43C>T	not provided [RCV001693142]\|not specified [RCV004594523]	benign	22	38139939	38139939	Human		name
150495374	CV1282926	single nucleotide variant	NM_003560.4(PLA2G6):c.609+71A>G	not provided [RCV001717360]\|not specified [RCV004594563]	benign	22	38143034	38143034	Human	1	name
150495374	CV1282926	single nucleotide variant	NM_003560.4(PLA2G6):c.609+71A>G	not provided [RCV001717360]\|not specified [RCV004594563]	benign	22	38143034	38143035	Human	1	name
150515569	CV1285585	single nucleotide variant	NM_003560.4(PLA2G6):c.894+39C>T	not provided [RCV001723038]	benign	22	38134949	38134949	Human		name
150504219	CV1285913	single nucleotide variant	NM_003560.4(PLA2G6):c.798-96C>T	not provided [RCV001719336]	benign	22	38135180	38135180	Human		name
150531459	CV1310879	single nucleotide variant	NM_003560.4(PLA2G6):c.-45-13C>A	not provided [RCV001776613]	uncertain significance	22	38169484	38169484	Human		name
151790682	CV1436136	deletion	NM_003560.4(PLA2G6):c.1592-9del	Infantile neuroaxonal dystrophy [RCV001990052]	likely benign\|uncertain significance	22	38120918	38120918	Human	1	name
151833258	CV1447991	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-4A>G	Infantile neuroaxonal dystrophy [RCV001920696]	likely benign\|uncertain significance	22	38112309	38112309	Human	1	name
151791928	CV1490060	single nucleotide variant	NM_003560.4(PLA2G6):c.798-19G>A	Infantile neuroaxonal dystrophy [RCV001952130]	likely benign\|uncertain significance	22	38135103	38135103	Human	1	name
152108108	CV1519949	single nucleotide variant	NM_003560.4(PLA2G6):c.894+18T>C	Infantile neuroaxonal dystrophy [RCV002134125]	likely benign	22	38134970	38134970	Human	1	name
152152544	CV1529588	single nucleotide variant	NM_003560.4(PLA2G6):c.798-14C>T	Infantile neuroaxonal dystrophy [RCV002202196]	likely benign	22	38135098	38135098	Human	1	name
152061021	CV1540939	single nucleotide variant	NM_003560.4(PLA2G6):c.797+19C>T	Infantile neuroaxonal dystrophy [RCV002190525]	likely benign	22	38139963	38139963	Human	1	name
152133511	CV1547196	single nucleotide variant	NM_003560.4(PLA2G6):c.1880-8G>A	Infantile neuroaxonal dystrophy [RCV002155844]	likely benign	22	38115689	38115689	Human	1	name
152102154	CV1571562	single nucleotide variant	NM_003560.4(PLA2G6):c.798-20C>T	Infantile neuroaxonal dystrophy [RCV002173241]	likely benign	22	38135104	38135104	Human	1	name
152153917	CV1592172	single nucleotide variant	NM_003560.4(PLA2G6):c.209+17G>A	Infantile neuroaxonal dystrophy [RCV002102663]	likely benign	22	38169201	38169201	Human	1	name
152068672	CV1613684	single nucleotide variant	NM_003560.4(PLA2G6):c.610-12C>G	Infantile neuroaxonal dystrophy [RCV002074796]	likely benign	22	38140181	38140181	Human	1	name
152174421	CV1622473	single nucleotide variant	NM_003560.4(PLA2G6):c.798-16G>A	Infantile neuroaxonal dystrophy [RCV002184502]	likely benign	22	38135100	38135100	Human	1	name
152141612	CV1625930	single nucleotide variant	NM_003560.4(PLA2G6):c.425+14C>G	Infantile neuroaxonal dystrophy [RCV002138248]	likely benign	22	38145424	38145424	Human	1	name
152098485	CV1639899	single nucleotide variant	NM_003560.4(PLA2G6):c.210-13C>T	Infantile neuroaxonal dystrophy [RCV002078671]	likely benign	22	38145666	38145666	Human	1	name
152065073	CV1652500	single nucleotide variant	NM_003560.4(PLA2G6):c.1880-9C>T	Infantile neuroaxonal dystrophy [RCV002090785]	likely benign	22	38115690	38115690	Human	1	name
152172928	CV1652798	single nucleotide variant	NM_003560.4(PLA2G6):c.895-12C>T	Infantile neuroaxonal dystrophy [RCV002143939]	likely benign	22	38133025	38133025	Human	1	name
152983271	CV1678097	single nucleotide variant	NM_003560.4(PLA2G6):c.798-22A>T	not specified [RCV002250253]	benign	22	38135106	38135106	Human		name
152980622	CV1678810	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+4A>G	not provided [RCV002247205]	uncertain significance	22	38113483	38113483	Human		name
9683667	CV169768	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+5G>A	Infantile neuroaxonal dystrophy [RCV003225931]\|Iron accumulation in brain [RCV000147315]\|PLA2G6-associated neurodegeneration [RCV001095728]	uncertain significance	22	38113482	38113482	Human	3	name
9683644	CV169791	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+8C>T	Infantile neuroaxonal dystrophy [RCV002055920]\|Iron accumulation in brain [RCV000147292]	likely benign\|uncertain significance	22	38123087	38123087	Human	3	name
9683636	CV169798	single nucleotide variant	NM_003560.4(PLA2G6):c.1348+9C>T	Infantile neuroaxonal dystrophy [RCV003507255]\|Iron accumulation in brain [RCV000147284]	likely benign\|uncertain significance	22	38128260	38128260	Human	3	name
156121016	CV1959390	single nucleotide variant	NM_003560.4(PLA2G6):c.1186+3A>G	Infantile neuroaxonal dystrophy [RCV002571863]	uncertain significance	22	38129451	38129451	Human	1	name
156062493	CV1975212	single nucleotide variant	NM_003560.4(PLA2G6):c.894+20G>A	Infantile neuroaxonal dystrophy [RCV002591024]	likely benign	22	38134968	38134968	Human	1	name
155934754	CV2035318	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+9G>A	Infantile neuroaxonal dystrophy [RCV002751370]	likely benign\|uncertain significance	22	38113478	38113478	Human	1	name
155976349	CV2062783	single nucleotide variant	NM_003560.4(PLA2G6):c.895-16T>C	Infantile neuroaxonal dystrophy [RCV002842307]	likely benign	22	38133029	38133029	Human	1	name
156196521	CV2066618	single nucleotide variant	NM_003560.4(PLA2G6):c.1349-7C>T	Infantile neuroaxonal dystrophy [RCV002828789]	likely benign	22	38126456	38126456	Human	1	name
156218552	CV2087460	single nucleotide variant	NM_003560.4(PLA2G6):c.1186+7G>T	Infantile neuroaxonal dystrophy [RCV002875774]	likely benign	22	38129447	38129447	Human	1	name
155900943	CV2087625	single nucleotide variant	NM_003560.4(PLA2G6):c.425+16A>G	Infantile neuroaxonal dystrophy [RCV002857850]	likely benign	22	38145422	38145422	Human	1	name
10407050	CV208794	single nucleotide variant	NM_003560.4(PLA2G6):c.1349-2A>G	Infantile neuroaxonal dystrophy [RCV003507265]\|Neurodegeneration with brain iron accumulation 2B [RCV000195256]\|not provided [RCV001781569]	pathogenic\|likely pathogenic	22	38126451	38126451	Human	2	name
155979972	CV2157212	single nucleotide variant	NM_003560.4(PLA2G6):c.609+17G>A	Infantile neuroaxonal dystrophy [RCV003016330]	likely benign	22	38143088	38143088	Human	1	name
156203772	CV2401380	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+2T>C	PLA2G6-associated neurodegeneration [RCV002789941]	pathogenic	22	38126369	38126369	Human	1	name
156203809	CV2401382	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-3C>A	PLA2G6-associated neurodegeneration [RCV002789943]	uncertain significance	22	38129565	38129565	Human	1	name
329846932	CV2524037	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-2A>G	Infantile neuroaxonal dystrophy [RCV003507490]\|Infantile neuroaxonal dystrophy [RCV005036703]\|Neurodegeneration with brain iron accumulation [RCV003226742]	pathogenic\|likely pathogenic	22	38116213	38116213	Human	2	name
401870374	CV2749353	single nucleotide variant	NM_003560.4(PLA2G6):c.1186+1G>T	Infantile neuroaxonal dystrophy [RCV003777400]\|Infantile neuroaxonal dystrophy [RCV005029988]\|not provided [RCV003332481]	pathogenic\|likely pathogenic	22	38129453	38129453	Human	1	name
402494831	CV2860290	single nucleotide variant	NM_003560.4(PLA2G6):c.209+15G>A	Infantile neuroaxonal dystrophy [RCV003508080]	likely benign	22	38169203	38169203	Human	1	name
402496090	CV2867382	single nucleotide variant	NM_003560.4(PLA2G6):c.425+17G>A	Infantile neuroaxonal dystrophy [RCV003508150]	likely benign	22	38145421	38145421	Human	1	name
402496051	CV2867578	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+1G>C	Infantile neuroaxonal dystrophy [RCV003508154]	pathogenic	22	38112503	38112503	Human	1	name
402497863	CV2872746	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+7G>A	Infantile neuroaxonal dystrophy [RCV003508327]	likely benign	22	38113480	38113480	Human	1	name
402498401	CV2880687	single nucleotide variant	NM_003560.4(PLA2G6):c.797+11C>A	Infantile neuroaxonal dystrophy [RCV003508444]	likely benign	22	38139971	38139971	Human	1	name
402499620	CV2881990	single nucleotide variant	NM_003560.4(PLA2G6):c.210-17C>T	Infantile neuroaxonal dystrophy [RCV003508572]	likely benign	22	38145670	38145670	Human	1	name
402500636	CV2882819	single nucleotide variant	NM_003560.4(PLA2G6):c.797+15C>T	Infantile neuroaxonal dystrophy [RCV003508678]	likely benign	22	38139967	38139967	Human	1	name
402499504	CV2885490	single nucleotide variant	NM_003560.4(PLA2G6):c.426-14G>A	Infantile neuroaxonal dystrophy [RCV003508559]	likely benign	22	38143302	38143302	Human	1	name
402499543	CV2885610	single nucleotide variant	NM_003560.4(PLA2G6):c.2035-7C>T	Infantile neuroaxonal dystrophy [RCV003508564]	likely benign	22	38113661	38113661	Human	1	name
402501224	CV2889736	single nucleotide variant	NM_003560.4(PLA2G6):c.1742+9T>C	Infantile neuroaxonal dystrophy [RCV003508706]	likely benign	22	38120750	38120750	Human	1	name
402502541	CV2899420	single nucleotide variant	NM_003560.4(PLA2G6):c.1879+8C>G	Infantile neuroaxonal dystrophy [RCV003508895]	likely benign	22	38116067	38116067	Human	1	name
402502571	CV2899510	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-7T>C	Infantile neuroaxonal dystrophy [RCV003508898]	likely benign	22	38116218	38116218	Human	1	name
402484866	CV2903835	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-9C>T	Infantile neuroaxonal dystrophy [RCV003506874]	likely benign	22	38112314	38112314	Human	1	name
402486507	CV2913458	single nucleotide variant	NM_003560.4(PLA2G6):c.2035-1G>A	Infantile neuroaxonal dystrophy [RCV003507040]	likely pathogenic	22	38113655	38113655	Human	1	name
402486793	CV2916707	single nucleotide variant	NM_003560.4(PLA2G6):c.894+16G>C	Infantile neuroaxonal dystrophy [RCV003507072]	likely benign	22	38134972	38134972	Human	1	name
402487457	CV2917499	single nucleotide variant	NM_003560.4(PLA2G6):c.610-18C>G	Infantile neuroaxonal dystrophy [RCV003507148]	likely benign	22	38140187	38140187	Human	1	name
402487361	CV2920843	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-7C>G	Infantile neuroaxonal dystrophy [RCV003507137]	likely benign	22	38112312	38112312	Human	1	name
402493396	CV2923566	single nucleotide variant	NM_003560.4(PLA2G6):c.609+18C>T	Infantile neuroaxonal dystrophy [RCV003507888]	likely benign	22	38143087	38143087	Human	1	name
405113346	CV2937993	single nucleotide variant	NM_003560.4(PLA2G6):c.1349-4A>G	Infantile neuroaxonal dystrophy [RCV003616021]	likely benign	22	38126453	38126453	Human	1	name
405113230	CV2940772	single nucleotide variant	NM_003560.4(PLA2G6):c.798-12C>T	Infantile neuroaxonal dystrophy [RCV003616002]	likely benign	22	38135096	38135096	Human	1	name
405113462	CV2948634	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-6C>T	Infantile neuroaxonal dystrophy [RCV003616040]	likely benign	22	38116217	38116217	Human	1	name
405114119	CV2961826	single nucleotide variant	NM_003560.4(PLA2G6):c.610-10C>G	Infantile neuroaxonal dystrophy [RCV003616131]	likely benign	22	38140179	38140179	Human	1	name
405114576	CV2967231	deletion	NM_003560.4(PLA2G6):c.2276+7del	Infantile neuroaxonal dystrophy [RCV003616208]	likely benign	22	38112497	38112497	Human	1	name
405116347	CV2983196	single nucleotide variant	NM_003560.4(PLA2G6):c.1879+9C>T	Infantile neuroaxonal dystrophy [RCV003616460]	likely benign	22	38116066	38116066	Human	1	name
405116531	CV2983512	single nucleotide variant	NM_003560.4(PLA2G6):c.609+13A>G	Infantile neuroaxonal dystrophy [RCV003616484]	likely benign	22	38143092	38143092	Human	1	name
405115874	CV2985276	single nucleotide variant	NM_003560.4(PLA2G6):c.895-19G>C	Infantile neuroaxonal dystrophy [RCV003616400]	likely benign	22	38133032	38133032	Human	1	name
405116274	CV2989676	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-8C>T	Infantile neuroaxonal dystrophy [RCV003616451]	likely benign	22	38116219	38116219	Human	1	name
405117608	CV2996352	single nucleotide variant	NM_003560.4(PLA2G6):c.426-15G>C	Infantile neuroaxonal dystrophy [RCV003616622]	likely benign	22	38143303	38143303	Human	1	name
405116979	CV2998549	single nucleotide variant	NM_003560.4(PLA2G6):c.425+17G>C	Infantile neuroaxonal dystrophy [RCV003616541]	likely benign	22	38145421	38145421	Human	1	name
405117747	CV3000220	single nucleotide variant	NM_003560.4(PLA2G6):c.1186+7G>A	Infantile neuroaxonal dystrophy [RCV003616639]	likely benign	22	38129447	38129447	Human	1	name
405117180	CV3001842	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+9T>C	Infantile neuroaxonal dystrophy [RCV003616567]	likely benign	22	38112495	38112495	Human	1	name
405117836	CV3003867	single nucleotide variant	NM_003560.4(PLA2G6):c.210-20C>G	Infantile neuroaxonal dystrophy [RCV003616650]	likely benign	22	38145673	38145673	Human	1	name
405118955	CV3006841	deletion	NM_003560.4(PLA2G6):c.894+12del	Infantile neuroaxonal dystrophy [RCV003616789]	likely benign	22	38134976	38134976	Human	1	name
405118564	CV3009200	single nucleotide variant	NM_003560.4(PLA2G6):c.895-19G>T	Infantile neuroaxonal dystrophy [RCV003616742]	likely benign	22	38133032	38133032	Human	1	name
405119104	CV3010478	single nucleotide variant	NM_003560.4(PLA2G6):c.1880-7C>T	Infantile neuroaxonal dystrophy [RCV003616808]	likely benign	22	38115688	38115688	Human	1	name
405120906	CV3035507	single nucleotide variant	NM_003560.4(PLA2G6):c.426-16T>G	Infantile neuroaxonal dystrophy [RCV003617037]	likely benign	22	38143304	38143304	Human	1	name
405121799	CV3054135	single nucleotide variant	NM_003560.4(PLA2G6):c.797+12T>G	Infantile neuroaxonal dystrophy [RCV003617142]	likely benign	22	38139970	38139970	Human	1	name
405122861	CV3060270	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-1G>A	Infantile neuroaxonal dystrophy [RCV003617282]\|Infantile neuroaxonal dystrophy [RCV005030236]	likely pathogenic	22	38129563	38129563	Human	1	name
405110789	CV3064664	single nucleotide variant	NM_003560.4(PLA2G6):c.609+16G>C	Infantile neuroaxonal dystrophy [RCV003615542]	likely benign	22	38143089	38143089	Human	1	name
405112001	CV3079554	single nucleotide variant	NM_003560.4(PLA2G6):c.1428-7A>G	Infantile neuroaxonal dystrophy [RCV003615710]	likely benign	22	38123265	38123265	Human	1	name
405103912	CV3116390	single nucleotide variant	NM_003560.4(PLA2G6):c.895-18C>T	Infantile neuroaxonal dystrophy [RCV003812106]	likely benign	22	38133031	38133031	Human	1	name
405121643	CV3131607	single nucleotide variant	NM_003560.4(PLA2G6):c.609+14G>A	Infantile neuroaxonal dystrophy [RCV003837471]	likely benign	22	38143091	38143091	Human	1	name
405197770	CV3138796	single nucleotide variant	NM_003560.4(PLA2G6):c.1592-1G>C	Infantile neuroaxonal dystrophy [RCV003821612]	likely pathogenic	22	38120910	38120910	Human	1	name
405209332	CV3145768	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+7G>A	Infantile neuroaxonal dystrophy [RCV003845498]	likely benign	22	38123088	38123088	Human	1	name
405166961	CV3153660	single nucleotide variant	NM_003560.4(PLA2G6):c.894+18T>G	Infantile neuroaxonal dystrophy [RCV003841205]	likely benign	22	38134970	38134970	Human	1	name
405182006	CV3159576	single nucleotide variant	NM_003560.4(PLA2G6):c.1880-6C>T	Infantile neuroaxonal dystrophy [RCV003858827]	likely benign	22	38115687	38115687	Human	1	name
405208906	CV3162527	single nucleotide variant	NM_003560.4(PLA2G6):c.1349-6T>C	Infantile neuroaxonal dystrophy [RCV003861826]	likely benign	22	38126455	38126455	Human	1	name
402500678	CV3170368	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+9G>A	Infantile neuroaxonal dystrophy [RCV003877740]	likely benign	22	38123086	38123086	Human	1	name
402471606	CV3171602	single nucleotide variant	NM_003560.4(PLA2G6):c.425+19C>T	Infantile neuroaxonal dystrophy [RCV003874386]	likely benign	22	38145419	38145419	Human	1	name
402464194	CV3172566	single nucleotide variant	NM_003560.4(PLA2G6):c.1592-9T>C	Infantile neuroaxonal dystrophy [RCV003872504]	likely benign	22	38120918	38120918	Human	1	name
404988447	CV3179876	single nucleotide variant	NM_003560.4(PLA2G6):c.894+15A>C	Infantile neuroaxonal dystrophy [RCV003881354]	likely benign	22	38134973	38134973	Human	1	name
11632138	CV352559	single nucleotide variant	NM_003560.4(PLA2G6):c.895-11G>A	Infantile neuroaxonal dystrophy [RCV002524455]\|PLA2G6-associated neurodegeneration [RCV000399484]	likely benign\|uncertain significance	22	38133024	38133024	Human	1	name
597957538	CV3754825	single nucleotide variant	NM_003560.4(PLA2G6):c.895-17C>T	Infantile neuroaxonal dystrophy [RCV005080675]	likely benign	22	38133030	38133030	Human	1	name
597846990	CV3768195	single nucleotide variant	NM_003560.4(PLA2G6):c.798-20C>A	Infantile neuroaxonal dystrophy [RCV005122574]	likely benign	22	38135104	38135104	Human	1	name
597878336	CV3804051	single nucleotide variant	NM_003560.4(PLA2G6):c.895-10T>C	Infantile neuroaxonal dystrophy [RCV005153597]	likely benign	22	38133023	38133023	Human	1	name
597882942	CV3807582	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+7G>A	Infantile neuroaxonal dystrophy [RCV005157960]	likely benign	22	38126364	38126364	Human	1	name
597909769	CV3840079	single nucleotide variant	NM_003560.4(PLA2G6):c.1187-7T>C	Infantile neuroaxonal dystrophy [RCV005184818]	likely benign	22	38128437	38128437	Human	1	name
597914127	CV3841843	single nucleotide variant	NM_003560.4(PLA2G6):c.1742+7C>G	Infantile neuroaxonal dystrophy [RCV005189277]	likely benign	22	38120752	38120752	Human	1	name
598129627	CV3887044	single nucleotide variant	NM_003560.4(PLA2G6):c.894+22T>G	not provided [RCV005245104]	likely benign	22	38134966	38134966	Human		name
616937955	CV4013315	single nucleotide variant	NM_003560.4(PLA2G6):c.1077+5G>A	not provided [RCV005410782]	uncertain significance	22	38132826	38132826	Human		name
616933593	CV4013527	single nucleotide variant	NM_003560.4(PLA2G6):c.1077+1G>A	Neurodegeneration with brain iron accumulation 2B [RCV005411089]	pathogenic	22	38132830	38132830	Human	1	name
616938726	CV4015136	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+1G>T	Infantile neuroaxonal dystrophy [RCV005412153]	pathogenic	22	38126370	38126370	Human	1	name
12893419	CV411014	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+5G>C	PLA2G6-associated neurodegeneration [RCV002526670]\|not provided [RCV000478946]	likely pathogenic\|uncertain significance	22	38123090	38123090	Human	1	name
13215231	CV431022	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-1G>C	Infantile neuroaxonal dystrophy [RCV000502251]	pathogenic\|likely pathogenic	22	38116212	38116212	Human	1	name
13213548	CV431023	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+1G>A	Infantile neuroaxonal dystrophy [RCV000500147]\|Infantile neuroaxonal dystrophy [RCV000763483]\|PLA2G6-associated neurodegeneration [RCV002527311]\|not provided [RCV001783002]	pathogenic\|likely pathogenic	22	38126370	38126370	Human	1	name
13446122	CV438228	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-7C>T	Infantile neuroaxonal dystrophy [RCV002527413]\|not provided [RCV000513304]	likely benign\|uncertain significance	22	38112312	38112312	Human	1	name
13468055	CV471123	single nucleotide variant	NM_003560.4(PLA2G6):c.1428-5T>G	Infantile neuroaxonal dystrophy [RCV000557056]\|not specified [RCV002248765]	likely benign\|uncertain significance	22	38123263	38123263	Human	1	name
13518860	CV486307	single nucleotide variant	NM_003560.4(PLA2G6):c.1187-5A>G	Infantile neuroaxonal dystrophy [RCV002065125]\|not provided [RCV000585173]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38128435	38128435	Human	1	name
13521285	CV495587	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-2A>C	Infantile neuroaxonal dystrophy [RCV000815114]\|PLA2G6-associated neurodegeneration [RCV002532704]\|not provided [RCV000599329]	likely pathogenic\|uncertain significance	22	38112307	38112307	Human	1	name
13794637	CV552230	single nucleotide variant	NM_003560.4(PLA2G6):c.1592-2A>C	Inborn genetic diseases [RCV004026159]\|Infantile neuroaxonal dystrophy [RCV000680069]\|Infantile neuroaxonal dystrophy [RCV005027834]\|PLA2G6-associated neurodegeneration [RCV002531410]	pathogenic\|likely pathogenic	22	38120911	38120911	Human	2	name
14396558	CV612360	deletion	NM_003560.4(PLA2G6):c.1880-9del	Neurodegeneration with brain iron accumulation 2B [RCV000761544]	pathogenic	22	38115690	38115690	Human	1	name
14695672	CV622926	single nucleotide variant	NM_003560.4(PLA2G6):c.1186+1G>A	Infantile neuroaxonal dystrophy [RCV000785898]\|PLA2G6-associated neurodegeneration [RCV002535731]\|not provided [RCV001310807]	pathogenic\|likely pathogenic	22	38129453	38129453	Human	1	name
14709347	CV653722	deletion	NM_003560.4(PLA2G6):c.1880-3del	Infantile neuroaxonal dystrophy [RCV000811785]\|not provided [RCV001558953]	likely benign\|uncertain significance	22	38115684	38115684	Human	1	name
15015198	CV679833	single nucleotide variant	NM_003560.4(PLA2G6):c.2035-2A>G	Infantile neuroaxonal dystrophy [RCV000853335]	pathogenic\|likely pathogenic	22	38113656	38113656	Human	1	name
15109675	CV695876	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-6G>A	Infantile neuroaxonal dystrophy [RCV002064687]\|not provided [RCV000871949]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38112311	38112311	Human	1	name
15109741	CV731419	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-6C>T	Infantile neuroaxonal dystrophy [RCV003615864]	likely benign	22	38112583	38112583	Human	1	name
15196091	CV760983	single nucleotide variant	NM_003560.4(PLA2G6):c.2034+9C>T	Infantile neuroaxonal dystrophy [RCV000911599]	likely benign	22	38115518	38115518	Human	1	name
15181350	CV778653	single nucleotide variant	NM_003560.4(PLA2G6):c.1428-8C>T	Infantile neuroaxonal dystrophy [RCV001078763]\|not provided [RCV000951955]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38123266	38123266	Human	1	name
21073299	CV792064	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+1G>A	Infantile neuroaxonal dystrophy [RCV000990439]\|not provided [RCV002462247]	pathogenic	22	38112503	38112503	Human	1	name
21404194	CV801743	single nucleotide variant	NM_003560.4(PLA2G6):c.1880-1G>C	Infantile neuroaxonal dystrophy [RCV001004413]	pathogenic	22	38115682	38115682	Human	1	name
21404195	CV801744	single nucleotide variant	NM_003560.4(PLA2G6):c.1187-1G>A	Infantile neuroaxonal dystrophy [RCV001004414]\|PLA2G6-associated neurodegeneration [RCV002549242]	pathogenic\|likely pathogenic\|uncertain significance	22	38128431	38128431	Human	1	name
38465597	CV961898	single nucleotide variant	NM_003560.4(PLA2G6):c.1742+2T>G	Neurodegeneration with brain iron accumulation 2B [RCV001250206]	likely pathogenic	22	38120757	38120757	Human	1	name
40886889	CV974236	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+1G>C	Inborn genetic diseases [RCV001266198]\|Neurodegeneration with brain iron accumulation [RCV002469366]	likely pathogenic	22	38126370	38126370	Human	2	name
127305688	CV1159172	single nucleotide variant	NM_003560.4(PLA2G6):c.1186+17C>G	Infantile neuroaxonal dystrophy [RCV001516372]	benign	22	38129437	38129437	Human	1	name
150336386	CV1165159	single nucleotide variant	NM_003560.4(PLA2G6):c.1349-93C>T	not provided [RCV001530820]	benign	22	38126542	38126542	Human		name
150406644	CV1178623	single nucleotide variant	NM_003560.4(PLA2G6):c.1742+23C>T	not provided [RCV001545316]	likely benign	22	38120736	38120736	Human		name
150408120	CV1178624	single nucleotide variant	NM_003560.4(PLA2G6):c.1348+48C>T	not provided [RCV001545789]	likely benign	22	38128221	38128221	Human		name
150413960	CV1178625	single nucleotide variant	NM_003560.4(PLA2G6):c.426-141T>G	not provided [RCV001547957]	likely benign	22	38143429	38143429	Human		name
150418364	CV1181997	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-95C>G	not provided [RCV001550570]	likely benign	22	38112672	38112672	Human		name
150411506	CV1192396	single nucleotide variant	NM_003560.4(PLA2G6):c.1348+92C>T	not provided [RCV001566613]	likely benign	22	38128177	38128177	Human		name
150419044	CV1199363	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+43G>C	not provided [RCV001577001]	likely benign	22	38112461	38112461	Human		name
150476224	CV1203007	single nucleotide variant	NM_003560.4(PLA2G6):c.-45-146C>T	not provided [RCV001589601]	likely benign	22	38169617	38169617	Human		name
150441913	CV1204626	single nucleotide variant	NM_003560.4(PLA2G6):c.1348+93G>A	not provided [RCV001583733]	likely benign	22	38128176	38128176	Human		name
150460653	CV1205805	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-11T>C	not provided [RCV001586762]	likely benign	22	38116222	38116222	Human		name
150491753	CV1210417	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-67T>C	not provided [RCV001592699]	likely benign	22	38112372	38112372	Human		name
150503723	CV1212540	single nucleotide variant	NM_003560.4(PLA2G6):c.426-309T>C	not provided [RCV001595415]	benign	22	38143597	38143597	Human		name
150461487	CV1215810	single nucleotide variant	NM_003560.4(PLA2G6):c.609+256A>G	not provided [RCV001613513]	benign	22	38142849	38142849	Human		name
150465291	CV1217995	single nucleotide variant	NM_003560.4(PLA2G6):c.895-120C>T	not provided [RCV001614120]	benign	22	38133133	38133133	Human		name
150454143	CV1219931	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+43G>A	not provided [RCV001612313]	benign	22	38112461	38112461	Human		name
150455527	CV1220473	single nucleotide variant	NM_003560.4(PLA2G6):c.609+290A>G	not provided [RCV001612566]	benign	22	38142815	38142815	Human		name
150455757	CV1220505	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-41G>C	not provided [RCV001612598]	benign	22	38112618	38112618	Human		name
150438149	CV1221121	single nucleotide variant	NM_003560.4(PLA2G6):c.609+200G>A	not provided [RCV001609815]	benign	22	38142905	38142905	Human		name
150502975	CV1241694	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-26C>T	not provided [RCV001657285]	benign	22	38116237	38116237	Human		name
150436826	CV1249759	single nucleotide variant	NM_003560.4(PLA2G6):c.209+167C>T	not provided [RCV001665673]	benign	22	38169051	38169051	Human		name
150462595	CV1253683	single nucleotide variant	NM_003560.4(PLA2G6):c.894+243C>A	not provided [RCV001669725]	benign	22	38134745	38134745	Human		name
150447792	CV1270362	single nucleotide variant	NM_003560.4(PLA2G6):c.610-292A>G	not provided [RCV001691499]	benign	22	38140461	38140461	Human		name
150472630	CV1272521	single nucleotide variant	NM_003560.4(PLA2G6):c.610-307G>C	not provided [RCV001695577]	benign	22	38140476	38140476	Human		name
150461735	CV1275993	single nucleotide variant	NM_003560.4(PLA2G6):c.210-276C>T	not provided [RCV001709931]	benign	22	38145929	38145929	Human		name
150473319	CV1281437	single nucleotide variant	NM_003560.4(PLA2G6):c.425+179A>G	not provided [RCV001713511]	benign	22	38145259	38145259	Human		name
150515310	CV1285498	single nucleotide variant	NM_003560.4(PLA2G6):c.1428-70T>C	not provided [RCV001722951]	benign	22	38123328	38123328	Human		name
150515316	CV1285500	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+55G>A	not provided [RCV001722953]	benign	22	38113432	38113432	Human		name
150515562	CV1285583	single nucleotide variant	NM_003560.4(PLA2G6):c.-45-226G>A	not provided [RCV001723036]	benign	22	38169697	38169697	Human		name
151234654	CV1320394	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-45G>A	not provided [RCV001800018]	likely benign	22	38112622	38112622	Human		name
152101945	CV1523814	single nucleotide variant	NM_003560.4(PLA2G6):c.1742+13G>T	Infantile neuroaxonal dystrophy [RCV002133380]	likely benign	22	38120746	38120746	Human	1	name
152129989	CV1551055	single nucleotide variant	NM_003560.4(PLA2G6):c.1742+10G>C	Infantile neuroaxonal dystrophy [RCV002155397]	likely benign	22	38120749	38120749	Human	1	name
152148956	CV1569186	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+14C>T	Infantile neuroaxonal dystrophy [RCV002220492]	likely benign	22	38113473	38113473	Human	1	name
152092438	CV1571176	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+11C>A	Infantile neuroaxonal dystrophy [RCV002150764]	likely benign	22	38126360	38126360	Human	1	name
152086141	CV1573834	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+15G>A	Infantile neuroaxonal dystrophy [RCV002149952]	likely benign	22	38112489	38112489	Human	1	name
152072947	CV1574565	single nucleotide variant	NM_003560.4(PLA2G6):c.1592-19C>T	Infantile neuroaxonal dystrophy [RCV002192032]	likely benign	22	38120928	38120928	Human	1	name
152082543	CV1589599	single nucleotide variant	NM_003560.4(PLA2G6):c.1349-13C>G	Infantile neuroaxonal dystrophy [RCV002112950]\|not provided [RCV004704744]	likely benign	22	38126462	38126462	Human	1	name
152119876	CV1593713	single nucleotide variant	NM_003560.4(PLA2G6):c.1592-15C>A	Infantile neuroaxonal dystrophy [RCV002097999]	likely benign	22	38120924	38120924	Human	1	name
152087563	CV1594720	single nucleotide variant	NM_003560.4(PLA2G6):c.1592-17G>C	Infantile neuroaxonal dystrophy [RCV002113612]	likely benign	22	38120926	38120926	Human	1	name
152146699	CV1600055	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+10C>T	Infantile neuroaxonal dystrophy [RCV002138901]	likely benign	22	38112494	38112494	Human	1	name
152027167	CV1626793	single nucleotide variant	NM_003560.4(PLA2G6):c.1186+10C>T	Infantile neuroaxonal dystrophy [RCV002185404]	likely benign	22	38129444	38129444	Human	1	name
152048565	CV1627570	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+12G>A	Infantile neuroaxonal dystrophy [RCV002108649]	likely benign	22	38126359	38126359	Human	1	name
152093768	CV1634232	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+14C>T	Infantile neuroaxonal dystrophy [RCV002213081]	likely benign	22	38112490	38112490	Human	1	name
152094184	CV1634445	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-20C>G	Infantile neuroaxonal dystrophy [RCV002213137]	benign	22	38129582	38129582	Human	1	name
152131241	CV1635406	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-15C>A	Infantile neuroaxonal dystrophy [RCV002099513]	likely benign	22	38116226	38116226	Human	1	name
152028282	CV1655159	single nucleotide variant	NM_003560.4(PLA2G6):c.1186+14A>C	Infantile neuroaxonal dystrophy [RCV002105180]	likely benign	22	38129440	38129440	Human	1	name
152057337	CV1656523	single nucleotide variant	NM_003560.4(PLA2G6):c.1077+15G>A	Infantile neuroaxonal dystrophy [RCV002109704]	likely benign	22	38132816	38132816	Human	1	name
153349156	CV1693831	single nucleotide variant	NM_003560.4(PLA2G6):c.425+464C>T	not provided [RCV002275548]	benign\|likely benign	22	38144974	38144974	Human		name
9683653	CV169782	single nucleotide variant	NM_003560.4(PLA2G6):c.1742+12C>T	Infantile neuroaxonal dystrophy [RCV002055922]\|PLA2G6-associated neurodegeneration [RCV000264337]\|not provided [RCV001582615]\|not specified [RCV000147301]	benign\|likely benign	22	38120747	38120747	Human	1	name
9683643	CV169790	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+11C>A	Infantile neuroaxonal dystrophy [RCV003507256]\|Iron accumulation in brain [RCV000147291]	likely benign\|uncertain significance	22	38123084	38123084	Human	3	name
155981148	CV1883105	single nucleotide variant	NM_003560.4(PLA2G6):c.1742+13G>A	Infantile neuroaxonal dystrophy [RCV003075663]	likely benign	22	38120746	38120746	Human	1	name
156379234	CV1903295	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-13C>T	Infantile neuroaxonal dystrophy [RCV003093140]	likely benign	22	38112318	38112318	Human	1	name
156417748	CV1920359	single nucleotide variant	NM_003560.4(PLA2G6):c.1349-18C>G	Infantile neuroaxonal dystrophy [RCV002610912]	likely benign	22	38126467	38126467	Human	1	name
156181031	CV1924467	single nucleotide variant	NM_003560.4(PLA2G6):c.1077+14C>T	Infantile neuroaxonal dystrophy [RCV002625039]	likely benign	22	38132817	38132817	Human	1	name
156434971	CV1940279	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-17C>T	Infantile neuroaxonal dystrophy [RCV003104693]	likely benign	22	38129579	38129579	Human	1	name
155911859	CV2010934	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-16G>A	Infantile neuroaxonal dystrophy [RCV002681781]	likely benign	22	38112593	38112593	Human	1	name
155916199	CV2091768	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-15C>T	Infantile neuroaxonal dystrophy [RCV002903101]	likely benign	22	38112320	38112320	Human	1	name
156265293	CV2091984	single nucleotide variant	NM_003560.4(PLA2G6):c.1348+17G>A	Infantile neuroaxonal dystrophy [RCV002895733]	benign	22	38128252	38128252	Human	1	name
156035402	CV2097702	single nucleotide variant	NM_003560.4(PLA2G6):c.1077+16C>T	Infantile neuroaxonal dystrophy [RCV002885583]\|not specified [RCV005419507]	likely benign\|uncertain significance	22	38132815	38132815	Human	1	name
156348737	CV2125217	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-20C>T	Infantile neuroaxonal dystrophy [RCV002966132]	likely benign	22	38129582	38129582	Human	1	name
156384360	CV2128304	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+17C>T	Infantile neuroaxonal dystrophy [RCV002943377]	likely benign	22	38112487	38112487	Human	1	name
156370199	CV2171047	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+20A>T	Infantile neuroaxonal dystrophy [RCV003032166]	likely benign	22	38123075	38123075	Human	1	name
402490878	CV2854953	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+19C>T	Infantile neuroaxonal dystrophy [RCV003507642]	likely benign	22	38113468	38113468	Human	1	name
402494702	CV2863280	single nucleotide variant	NM_003560.4(PLA2G6):c.1879+18T>C	Infantile neuroaxonal dystrophy [RCV003508063]	likely benign	22	38116057	38116057	Human	1	name
402496485	CV2868505	single nucleotide variant	NM_003560.4(PLA2G6):c.1348+16C>T	Infantile neuroaxonal dystrophy [RCV003508241]	likely benign	22	38128253	38128253	Human	1	name
402496569	CV2879264	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+13C>T	Infantile neuroaxonal dystrophy [RCV003508250]	likely benign	22	38123082	38123082	Human	1	name
402498769	CV2891504	single nucleotide variant	NM_003560.4(PLA2G6):c.1187-14C>T	Infantile neuroaxonal dystrophy [RCV003508484]	benign	22	38128444	38128444	Human	1	name
402501594	CV2894119	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+18C>T	Infantile neuroaxonal dystrophy [RCV003508788]	likely benign	22	38113469	38113469	Human	1	name
402484724	CV2897119	single nucleotide variant	NM_003560.4(PLA2G6):c.1187-17C>G	Infantile neuroaxonal dystrophy [RCV003506861]	likely benign	22	38128447	38128447	Human	1	name
402485232	CV2907712	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-12C>T	Infantile neuroaxonal dystrophy [RCV003506910]	likely benign	22	38129574	38129574	Human	1	name
402486946	CV2909775	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-15G>T	Infantile neuroaxonal dystrophy [RCV003507090]	likely benign	22	38112592	38112592	Human	1	name
402486827	CV2913874	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-18C>T	Infantile neuroaxonal dystrophy [RCV003507076]	likely benign	22	38112323	38112323	Human	1	name
402488193	CV2921797	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+17G>A	Infantile neuroaxonal dystrophy [RCV003507224]	likely benign	22	38123078	38123078	Human	1	name
402492328	CV2931544	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-10T>C	Infantile neuroaxonal dystrophy [RCV003507772]	likely benign	22	38129572	38129572	Human	1	name
405113260	CV2937560	single nucleotide variant	NM_003560.4(PLA2G6):c.1879+18T>A	Infantile neuroaxonal dystrophy [RCV003616007]	likely benign	22	38116057	38116057	Human	1	name
405113496	CV2942011	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+14C>T	Infantile neuroaxonal dystrophy [RCV003616046]	likely benign	22	38123081	38123081	Human	1	name
405113321	CV2944408	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+19G>A	Infantile neuroaxonal dystrophy [RCV003616017]	likely benign	22	38123076	38123076	Human	1	name
405113836	CV2953479	single nucleotide variant	NM_003560.4(PLA2G6):c.1880-16C>T	Infantile neuroaxonal dystrophy [RCV003616084]	likely benign	22	38115697	38115697	Human	1	name
405113812	CV2957061	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-14T>C	Infantile neuroaxonal dystrophy [RCV003616080]	likely benign	22	38129576	38129576	Human	1	name
405115338	CV2966417	single nucleotide variant	NM_003560.4(PLA2G6):c.1187-10C>A	Infantile neuroaxonal dystrophy [RCV003616333]	likely benign	22	38128440	38128440	Human	1	name
405116429	CV2979973	deletion	NM_003560.4(PLA2G6):c.2035-17del	Infantile neuroaxonal dystrophy [RCV003616471]	likely benign	22	38113671	38113671	Human	1	name
405116578	CV2983761	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+18C>T	Infantile neuroaxonal dystrophy [RCV003616490]	likely benign	22	38112486	38112486	Human	1	name
405115984	CV2988909	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+18G>T	Infantile neuroaxonal dystrophy [RCV003616414]	likely benign	22	38123077	38123077	Human	1	name
405116267	CV2989659	single nucleotide variant	NM_003560.4(PLA2G6):c.1077+15G>T	Infantile neuroaxonal dystrophy [RCV003616450]	likely benign	22	38132816	38132816	Human	1	name
405117056	CV2995113	single nucleotide variant	NM_003560.4(PLA2G6):c.2277-14C>T	Infantile neuroaxonal dystrophy [RCV003616551]	likely benign	22	38112319	38112319	Human	1	name
405117820	CV3003564	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+19G>A	Infantile neuroaxonal dystrophy [RCV003616648]	likely benign	22	38126352	38126352	Human	1	name
405118789	CV3006424	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+20G>T	Infantile neuroaxonal dystrophy [RCV003616769]	likely benign	22	38126351	38126351	Human	1	name
405118797	CV3006451	single nucleotide variant	NM_003560.4(PLA2G6):c.2034+10G>T	Infantile neuroaxonal dystrophy [RCV003616770]	likely benign	22	38115517	38115517	Human	1	name
405119146	CV3007191	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+18G>A	Infantile neuroaxonal dystrophy [RCV003616813]	likely benign	22	38123077	38123077	Human	1	name
405118186	CV3011831	single nucleotide variant	NM_003560.4(PLA2G6):c.1077+17G>C	Infantile neuroaxonal dystrophy [RCV003616694]	likely benign	22	38132814	38132814	Human	1	name
405119682	CV3018669	single nucleotide variant	NM_003560.4(PLA2G6):c.1348+12C>T	Infantile neuroaxonal dystrophy [RCV003616883]	likely benign	22	38128257	38128257	Human	1	name
405119471	CV3021668	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+19G>C	Infantile neuroaxonal dystrophy [RCV003616856]	likely benign	22	38123076	38123076	Human	1	name
405119844	CV3029193	single nucleotide variant	NM_003560.4(PLA2G6):c.1077+12A>G	Infantile neuroaxonal dystrophy [RCV003616904]	likely benign	22	38132819	38132819	Human	1	name
405120129	CV3030077	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-16C>T	Infantile neuroaxonal dystrophy [RCV003616940]	likely benign	22	38116227	38116227	Human	1	name
405120931	CV3032779	single nucleotide variant	NM_003560.4(PLA2G6):c.1742+12C>G	Infantile neuroaxonal dystrophy [RCV003617040]	likely benign	22	38120747	38120747	Human	1	name
405120785	CV3037942	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+14C>G	Infantile neuroaxonal dystrophy [RCV003617023]	likely benign	22	38113473	38113473	Human	1	name
405121852	CV3047342	single nucleotide variant	NM_003560.4(PLA2G6):c.1880-18C>T	Infantile neuroaxonal dystrophy [RCV003617150]	likely benign	22	38115699	38115699	Human	1	name
405122105	CV3051589	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-11C>T	Infantile neuroaxonal dystrophy [RCV003617183]	likely benign	22	38112588	38112588	Human	1	name
405122262	CV3051925	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+18G>A	Infantile neuroaxonal dystrophy [RCV003617203]	likely benign	22	38126353	38126353	Human	1	name
405122081	CV3055007	single nucleotide variant	NM_003560.4(PLA2G6):c.1592-10T>A	Infantile neuroaxonal dystrophy [RCV003617180]	likely benign	22	38120919	38120919	Human	1	name
405111305	CV3066630	single nucleotide variant	NM_003560.4(PLA2G6):c.1077+17G>A	Infantile neuroaxonal dystrophy [RCV003615625]	likely benign	22	38132814	38132814	Human	1	name
405110989	CV3069053	single nucleotide variant	NM_003560.4(PLA2G6):c.2276+19C>A	Infantile neuroaxonal dystrophy [RCV003615574]	likely benign	22	38112485	38112485	Human	1	name
405112325	CV3071993	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+10G>C	Infantile neuroaxonal dystrophy [RCV003615764]	likely benign	22	38123085	38123085	Human	1	name
405111582	CV3073484	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-14T>A	Infantile neuroaxonal dystrophy [RCV003615666]	likely benign	22	38129576	38129576	Human	1	name
405111498	CV3075768	single nucleotide variant	NM_003560.4(PLA2G6):c.2034+10G>A	Infantile neuroaxonal dystrophy [RCV003615653]	likely benign	22	38115517	38115517	Human	1	name
405111908	CV3076301	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+11C>T	Infantile neuroaxonal dystrophy [RCV003615694]	likely benign	22	38126360	38126360	Human	1	name
405118236	CV3116063	single nucleotide variant	NM_003560.4(PLA2G6):c.1427+17C>T	Infantile neuroaxonal dystrophy [RCV003814553]	likely benign	22	38126354	38126354	Human	1	name
405140633	CV3130880	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-13C>T	Infantile neuroaxonal dystrophy [RCV003839114]	likely benign	22	38129575	38129575	Human	1	name
405203288	CV3143955	single nucleotide variant	NM_003560.4(PLA2G6):c.1880-11C>A	Infantile neuroaxonal dystrophy [RCV003844745]	likely benign	22	38115692	38115692	Human	1	name
405095443	CV3147999	single nucleotide variant	NM_003560.4(PLA2G6):c.1428-15C>G	Infantile neuroaxonal dystrophy [RCV003852629]	likely benign	22	38123273	38123273	Human	1	name
405044288	CV3150300	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+17C>T	Infantile neuroaxonal dystrophy [RCV003849094]	likely benign	22	38113470	38113470	Human	1	name
405236353	CV3166397	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-20C>A	Infantile neuroaxonal dystrophy [RCV003853846]	likely benign	22	38112597	38112597	Human	1	name
405255541	CV3172522	single nucleotide variant	NM_003560.4(PLA2G6):c.1592-13C>T	Infantile neuroaxonal dystrophy [RCV003872460]	likely benign	22	38120922	38120922	Human	1	name
404983212	CV3184198	single nucleotide variant	NM_003560.4(PLA2G6):c.1879+10A>G	Infantile neuroaxonal dystrophy [RCV003880690]	likely benign	22	38116065	38116065	Human	1	name
597916605	CV3841933	single nucleotide variant	NM_003560.4(PLA2G6):c.1078-15C>G	Infantile neuroaxonal dystrophy [RCV005191430]	likely benign	22	38129577	38129577	Human	1	name
13794636	CV552267	single nucleotide variant	NM_003560.4(PLA2G6):c.2035-55G>A	Infantile neuroaxonal dystrophy [RCV000680068]	uncertain significance	22	38113709	38113709	Human	1	name
28904808	CV891835	single nucleotide variant	NM_003560.4(PLA2G6):c.1348+10G>A	Infantile neuroaxonal dystrophy [RCV002557088]\|PLA2G6-associated neurodegeneration [RCV001144631]	likely benign\|uncertain significance	22	38128259	38128259	Human	1	name
150419698	CV1181998	single nucleotide variant	NM_003560.4(PLA2G6):c.2202+286C>T	not provided [RCV001551182]	likely benign	22	38113201	38113201	Human		name
150426480	CV1189001	single nucleotide variant	NM_003560.4(PLA2G6):c.1592-206G>T	not provided [RCV001559629]	likely benign	22	38121115	38121115	Human		name
150418642	CV1195647	single nucleotide variant	NM_003560.4(PLA2G6):c.1428-237C>A	not provided [RCV001569312]	likely benign	22	38123495	38123495	Human		name
150417922	CV1199364	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-201C>T	not provided [RCV001576517]	likely benign	22	38112778	38112778	Human		name
150420554	CV1199365	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-269T>G	not provided [RCV001577662]	likely benign	22	38112846	38112846	Human		name
150420560	CV1199366	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-137G>A	not provided [RCV001577664]	benign\|likely benign	22	38116348	38116348	Human		name
150417465	CV1199367	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+276G>A	not provided [RCV001576309]	likely benign	22	38122819	38122819	Human		name
150480571	CV1208043	deletion	NM_003560.4(PLA2G6):c.2203-161del	not provided [RCV001590320]	likely benign	22	38112738	38112738	Human		name
150516033	CV1216416	single nucleotide variant	NM_003560.4(PLA2G6):c.1348+101C>T	not provided [RCV001608607]	benign	22	38128168	38128168	Human		name
150474948	CV1234525	single nucleotide variant	NM_003560.4(PLA2G6):c.1428-248A>G	not provided [RCV001651845]	benign	22	38123506	38123506	Human		name
150430726	CV1243450	single nucleotide variant	NM_003560.4(PLA2G6):c.1348+127C>G	not provided [RCV001663069]\|not specified [RCV004594462]	benign	22	38128142	38128142	Human		name
150452282	CV1254942	single nucleotide variant	NM_003560.4(PLA2G6):c.1743-184C>T	not provided [RCV001668001]\|not specified [RCV004594486]	benign	22	38116395	38116395	Human		name
150494099	CV1257691	single nucleotide variant	NM_003560.4(PLA2G6):c.1592-286A>G	not provided [RCV001675364]	benign	22	38121195	38121195	Human		name
150467322	CV1269211	single nucleotide variant	NM_003560.4(PLA2G6):c.1186+322A>G	not provided [RCV001694619]	benign	22	38129132	38129132	Human		name
150496768	CV1271611	single nucleotide variant	NM_003560.4(PLA2G6):c.1591+305C>A	not provided [RCV001688912]	benign	22	38122790	38122790	Human		name
150462885	CV1273074	single nucleotide variant	NM_003560.4(PLA2G6):c.1186+314C>T	not provided [RCV001693831]	benign	22	38129140	38129140	Human		name
150504225	CV1285914	single nucleotide variant	NM_003560.4(PLA2G6):c.1077+115T>A	not provided [RCV001719337]	benign	22	38132716	38132716	Human		name
150504230	CV1285915	single nucleotide variant	NM_003560.4(PLA2G6):c.2203-144C>T	not provided [RCV001719338]	benign	22	38112721	38112721	Human		name
155641870	CV1709968	single nucleotide variant	NM_003560.4(PLA2G6):c.2035-926G>A	Infantile neuroaxonal dystrophy [RCV003164492]\|PLA2G6-associated neurodegeneration [RCV003408219]\|not provided [RCV002293068]	likely pathogenic\|uncertain significance	22	38114580	38114580	Human	1	name
401921889	CV2822198	single nucleotide variant	NM_003560.4(PLA2G6):c.2035-870C>A	not provided [RCV003433210]	likely benign	22	38114524	38114524	Human		name
407429637	CV3414024	single nucleotide variant	NM_003560.4(PLA2G6):c.210-1793A>G	not specified [RCV004595438]	benign	22	38147446	38147446	Human		name
597900430	CV3822664	microsatellite	NM_003560.4(PLA2G6):c.798-11TC[2]	Infantile neuroaxonal dystrophy [RCV005175196]	likely benign	22	38135090	38135091	Human		name
405110704	CV3060825	microsatellite	NM_003560.4(PLA2G6):c.1078-18TC[2]	Infantile neuroaxonal dystrophy [RCV003615527]	likely benign	22	38129575	38129576	Human		name
11625609	CV338121	deletion	NM_003560.4(PLA2G6):c.183_187del	Infantile neuroaxonal dystrophy [RCV000401174]\|not provided [RCV001618606]	benign\|likely benign	22	38111974	38111978	Human	1	name
405142418	CV3125985	deletion	NM_003560.4(PLA2G6):c.1183_1186+8del	Infantile neuroaxonal dystrophy [RCV003816901]	likely pathogenic	22	38129446	38129457	Human	1	name
150471299	CV1209520	single nucleotide variant	NM_003560.4(PLA2G6):c.27T>C (p.Asn9=)	Infantile neuroaxonal dystrophy [RCV002592501]\|not provided [RCV001588631]	likely benign	22	38169400	38169400	Human	1	name
402499406	CV2888626	single nucleotide variant	NM_003560.4(PLA2G6):c.15C>T (p.Gly5=)	Infantile neuroaxonal dystrophy [RCV003508549]	likely benign	22	38169412	38169412	Human	1	name
9683688	CV169818	single nucleotide variant	NM_003560.4(PLA2G6):c.87G>A (p.Val29=)	Infantile neuroaxonal dystrophy [RCV000299100]\|PLA2G6-associated neurodegeneration [RCV001094774]\|not provided [RCV001636687]\|not specified [RCV000147337]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	38169340	38169340	Human	1	name
9683676	CV169820	single nucleotide variant	NM_003560.4(PLA2G6):c.39C>T (p.Gly13=)	Infantile neuroaxonal dystrophy [RCV000960418]\|not specified [RCV000147325]	benign\|likely benign	22	38169388	38169388	Human	1	name
9683679	CV169821	single nucleotide variant	NM_003560.4(PLA2G6):c.4C>A (p.Gln2Lys)	Iron accumulation in brain [RCV000147328]	likely pathogenic	22	38169423	38169423	Human	2	name
156249718	CV1886955	single nucleotide variant	NM_003560.4(PLA2G6):c.90C>T (p.Ala30=)	Infantile neuroaxonal dystrophy [RCV003086059]	likely benign	22	38169337	38169337	Human	1	name
156203890	CV2401387	single nucleotide variant	NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)	Infantile neuroaxonal dystrophy [RCV003507474]\|PLA2G6-associated neurodegeneration [RCV002789947]	pathogenic	22	38169426	38169426	Human	1	name
405113086	CV2936910	single nucleotide variant	NM_003560.4(PLA2G6):c.72G>C (p.Val24=)	Infantile neuroaxonal dystrophy [RCV003615978]	likely benign	22	38169355	38169355	Human	1	name
405121120	CV3035891	single nucleotide variant	NM_003560.4(PLA2G6):c.48C>T (p.Asn16=)	Infantile neuroaxonal dystrophy [RCV003617060]	likely benign	22	38169379	38169379	Human	1	name
405112184	CV3077043	single nucleotide variant	NM_003560.4(PLA2G6):c.81G>A (p.Val27=)	Infantile neuroaxonal dystrophy [RCV003615741]	likely benign	22	38169346	38169346	Human	1	name
405150470	CV3123220	single nucleotide variant	NM_003560.4(PLA2G6):c.78G>A (p.Glu26=)	Infantile neuroaxonal dystrophy [RCV003817453]	likely benign	22	38169349	38169349	Human	1	name
597897826	CV3827475	single nucleotide variant	NM_003560.4(PLA2G6):c.33C>T (p.Phe11=)	Infantile neuroaxonal dystrophy [RCV005172746]	likely benign	22	38169394	38169394	Human	1	name
13509396	CV420984	single nucleotide variant	NM_003560.4(PLA2G6):c.3G>T (p.Met1Ile)	Infantile neuroaxonal dystrophy [RCV000578770]	pathogenic	22	38169424	38169424	Human	1	name
150407711	CV1192398	single nucleotide variant	NM_003560.4(PLA2G6):c.26A>G (p.Asn9Ser)	Infantile neuroaxonal dystrophy [RCV001865996]\|not provided [RCV001565095]	uncertain significance	22	38169401	38169401	Human	1	name
151886866	CV1464349	single nucleotide variant	NM_003560.4(PLA2G6):c.252C>T (p.Phe84=)	Infantile neuroaxonal dystrophy [RCV001942263]	likely benign	22	38145611	38145611	Human	1	name
152167850	CV1547808	single nucleotide variant	NM_003560.4(PLA2G6):c.180C>T (p.Val60=)	Infantile neuroaxonal dystrophy [RCV002160969]	likely benign	22	38169247	38169247	Human	1	name
156032779	CV1923404	single nucleotide variant	NM_003560.4(PLA2G6):c.17G>A (p.Arg6His)	Infantile neuroaxonal dystrophy [RCV002637239]	uncertain significance	22	38169410	38169410	Human	1	name
156443900	CV1941255	single nucleotide variant	NM_003560.4(PLA2G6):c.102G>A (p.Ser34=)	Infantile neuroaxonal dystrophy [RCV003114812]\|not provided [RCV003435976]	likely benign	22	38169325	38169325	Human	1	name
156133174	CV1998691	single nucleotide variant	NM_003560.4(PLA2G6):c.20T>G (p.Leu7Arg)	Infantile neuroaxonal dystrophy [RCV002663295]	uncertain significance	22	38169407	38169407	Human	1	name
156353266	CV2157809	single nucleotide variant	NM_003560.4(PLA2G6):c.141C>T (p.Phe47=)	Infantile neuroaxonal dystrophy [RCV003031037]	likely benign	22	38169286	38169286	Human	1	name
402502918	CV2902419	single nucleotide variant	NM_003560.4(PLA2G6):c.231G>A (p.Glu77=)	Infantile neuroaxonal dystrophy [RCV003508934]\|PLA2G6-related disorder [RCV003981005]	likely benign	22	38145632	38145632	Human	1	name , alternate_id
402502944	CV2902514	single nucleotide variant	NM_003560.4(PLA2G6):c.216C>T (p.Phe72=)	Infantile neuroaxonal dystrophy [RCV003508937]	likely benign	22	38145647	38145647	Human	1	name
402485740	CV2912832	single nucleotide variant	NM_003560.4(PLA2G6):c.207C>T (p.Phe69=)	Infantile neuroaxonal dystrophy [RCV003506960]	likely benign	22	38169220	38169220	Human	1	name
402485651	CV2915388	single nucleotide variant	NM_003560.4(PLA2G6):c.159C>T (p.Arg53=)	Infantile neuroaxonal dystrophy [RCV003506951]	likely benign	22	38169268	38169268	Human	1	name
405116155	CV2982903	single nucleotide variant	NM_003560.4(PLA2G6):c.271C>T (p.Leu91=)	Infantile neuroaxonal dystrophy [RCV003616436]	likely benign	22	38145592	38145592	Human	1	name
405119597	CV3025256	single nucleotide variant	NM_003560.4(PLA2G6):c.174C>T (p.Val58=)	Infantile neuroaxonal dystrophy [RCV003616871]	likely benign	22	38169253	38169253	Human	1	name
405122169	CV3048289	single nucleotide variant	NM_003560.4(PLA2G6):c.258G>A (p.Gln86=)	Infantile neuroaxonal dystrophy [RCV003617191]	likely benign	22	38145605	38145605	Human	1	name
405121464	CV3052940	single nucleotide variant	NM_003560.4(PLA2G6):c.17G>T (p.Arg6Leu)	Infantile neuroaxonal dystrophy [RCV003617104]	uncertain significance	22	38169410	38169410	Human	1	name
405112198	CV3077095	single nucleotide variant	NM_003560.4(PLA2G6):c.279C>T (p.Pro93=)	Infantile neuroaxonal dystrophy [RCV003615743]	likely benign	22	38145584	38145584	Human	1	name
405209231	CV3117286	single nucleotide variant	NM_003560.4(PLA2G6):c.153C>T (p.Pro51=)	Infantile neuroaxonal dystrophy [RCV003823073]	likely benign	22	38169274	38169274	Human	1	name
405166604	CV3125691	single nucleotide variant	NM_003560.4(PLA2G6):c.120G>A (p.Glu40=)	Infantile neuroaxonal dystrophy [RCV003818774]	likely benign	22	38169307	38169307	Human	1	name
597862982	CV3796258	single nucleotide variant	NM_003560.4(PLA2G6):c.273G>A (p.Leu91=)	Infantile neuroaxonal dystrophy [RCV005137075]	likely benign	22	38145590	38145590	Human	1	name
597873768	CV3799923	single nucleotide variant	NM_003560.4(PLA2G6):c.273G>T (p.Leu91=)	Infantile neuroaxonal dystrophy [RCV005148337]	likely benign	22	38145590	38145590	Human	1	name
597886672	CV3815871	single nucleotide variant	NM_003560.4(PLA2G6):c.225G>A (p.Glu75=)	Infantile neuroaxonal dystrophy [RCV005161623]	likely benign	22	38145638	38145638	Human	1	name
13518584	CV486308	single nucleotide variant	NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)	Inborn genetic diseases [RCV002530854]\|Infantile neuroaxonal dystrophy [RCV000764385]\|Infantile neuroaxonal dystrophy [RCV001231034]\|PLA2G6-associated neurodegeneration [RCV001144725]\|not provided [RCV000584924]	uncertain significance	22	38169411	38169411	Human	2	name
15182324	CV705932	single nucleotide variant	NM_003560.4(PLA2G6):c.237C>T (p.Asp79=)	Infantile neuroaxonal dystrophy [RCV002066310]	likely benign	22	38145626	38145626	Human	1	name
15154346	CV705933	single nucleotide variant	NM_003560.4(PLA2G6):c.226T>C (p.Leu76=)	Infantile neuroaxonal dystrophy [RCV002066251]\|not provided [RCV004704362]	likely benign	22	38145637	38145637	Human	1	name
15164831	CV742904	single nucleotide variant	NM_003560.4(PLA2G6):c.171C>T (p.Cys57=)	Infantile neuroaxonal dystrophy [RCV001489659]\|not provided [RCV000904090]	likely benign	22	38169256	38169256	Human	1	name
127271891	CV1086017	single nucleotide variant	NM_003560.4(PLA2G6):c.438C>T (p.Cys146=)	Infantile neuroaxonal dystrophy [RCV001405502]\|PLA2G6-related disorder [RCV003900392]	likely benign	22	38143276	38143276	Human	1	name , alternate_id
127326445	CV1150140	single nucleotide variant	NM_003560.4(PLA2G6):c.804G>A (p.Ala268=)	Infantile neuroaxonal dystrophy [RCV001506309]\|not provided [RCV004809657]	likely benign	22	38135078	38135078	Human	1	name
150331337	CV1163677	deletion	NM_003560.4(PLA2G6):c.797+235_797+236del	not provided [RCV001527762]	likely benign	22	38139746	38139747	Human		name
151234558	CV1320327	single nucleotide variant	NM_003560.4(PLA2G6):c.882C>T (p.Ala294=)	Infantile neuroaxonal dystrophy [RCV002544369]\|not provided [RCV001799951]	likely benign	22	38135000	38135000	Human	1	name
151353358	CV1326456	single nucleotide variant	NM_003560.4(PLA2G6):c.948G>A (p.Ala316=)	Infantile neuroaxonal dystrophy [RCV003507397]\|not provided [RCV001816324]	likely benign	22	38132960	38132960	Human	1	name
151739265	CV1455178	single nucleotide variant	NM_003560.4(PLA2G6):c.29C>T (p.Thr10Ile)	Infantile neuroaxonal dystrophy [RCV002005654]	uncertain significance	22	38169398	38169398	Human	1	name
152127877	CV1534132	single nucleotide variant	NM_003560.4(PLA2G6):c.888C>T (p.Asn296=)	Infantile neuroaxonal dystrophy [RCV002136557]\|not provided [RCV005242197]	likely benign	22	38134994	38134994	Human	1	name
152114370	CV1534563	single nucleotide variant	NM_003560.4(PLA2G6):c.373C>T (p.Leu125=)	Infantile neuroaxonal dystrophy [RCV002097271]	likely benign	22	38145490	38145490	Human	1	name
152143833	CV1538474	single nucleotide variant	NM_003560.4(PLA2G6):c.402C>T (p.Cys134=)	Infantile neuroaxonal dystrophy [RCV002219731]\|PLA2G6-related disorder [RCV003950976]	benign\|likely benign	22	38145461	38145461	Human	1	name , alternate_id
152083321	CV1554696	single nucleotide variant	NM_003560.4(PLA2G6):c.807G>A (p.Glu269=)	Infantile neuroaxonal dystrophy [RCV002211704]	likely benign	22	38135075	38135075	Human	1	name
152142405	CV1587533	single nucleotide variant	NM_003560.4(PLA2G6):c.663G>T (p.Leu221=)	Infantile neuroaxonal dystrophy [RCV002138342]	likely benign	22	38140116	38140116	Human	1	name
152077584	CV1612987	single nucleotide variant	NM_003560.4(PLA2G6):c.393C>A (p.Ile131=)	Infantile neuroaxonal dystrophy [RCV002075940]	likely benign	22	38145470	38145470	Human	1	name
152163568	CV1646613	single nucleotide variant	NM_003560.4(PLA2G6):c.715C>T (p.Leu239=)	Infantile neuroaxonal dystrophy [RCV002160074]	likely benign	22	38140064	38140064	Human	1	name
152094203	CV1648840	single nucleotide variant	NM_003560.4(PLA2G6):c.672G>C (p.Leu224=)	Infantile neuroaxonal dystrophy [RCV002078115]	likely benign	22	38140107	38140107	Human	1	name
152047908	CV1656801	single nucleotide variant	NM_003560.4(PLA2G6):c.324G>A (p.Gln108=)	Infantile neuroaxonal dystrophy [RCV002189041]	likely benign	22	38145539	38145539	Human	1	name
9683690	CV169805	single nucleotide variant	NM_003560.4(PLA2G6):c.972G>A (p.Ala324=)	Infantile neuroaxonal dystrophy [RCV000389804]\|PLA2G6-associated neurodegeneration [RCV001094822]\|not provided [RCV000513451]\|not specified [RCV000147339]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38132936	38132936	Human	1	name
9683689	CV169806	single nucleotide variant	NM_003560.4(PLA2G6):c.957G>A (p.Thr319=)	Infantile neuroaxonal dystrophy [RCV001518069]\|PLA2G6-associated neurodegeneration [RCV000288433]\|not provided [RCV001682857]\|not specified [RCV000147338]	benign\|likely benign	22	38132951	38132951	Human	1	name
9683686	CV169808	single nucleotide variant	NM_003560.4(PLA2G6):c.786C>T (p.Phe262=)	Infantile neuroaxonal dystrophy [RCV002514839]\|Iron accumulation in brain [RCV000147335]	benign\|uncertain significance	22	38139993	38139993	Human	3	name
9683678	CV169814	single nucleotide variant	NM_003560.4(PLA2G6):c.495G>C (p.Gly165=)	Infantile neuroaxonal dystrophy [RCV000873528]\|Iron accumulation in brain [RCV000147327]\|not provided [RCV001567737]\|not specified [RCV001698973]	benign\|likely benign\|uncertain significance	22	38143219	38143219	Human	3	name
9683683	CV169819	single nucleotide variant	NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln)	Infantile neuroaxonal dystrophy [RCV001321701]\|Infantile neuroaxonal dystrophy [RCV002505130]\|Iron accumulation in brain [RCV000147332]\|not provided [RCV001762326]	uncertain significance	22	38169359	38169359	Human	3	name
155265204	CV1704663	single nucleotide variant	NM_003560.4(PLA2G6):c.95A>G (p.Tyr32Cys)	not provided [RCV002284879]	uncertain significance	22	38169332	38169332	Human		name
156348509	CV1868605	single nucleotide variant	NM_003560.4(PLA2G6):c.609G>A (p.Gln203=)	Infantile neuroaxonal dystrophy [RCV003064659]	uncertain significance	22	38143105	38143105	Human	1	name
156407651	CV1868768	single nucleotide variant	NM_003560.4(PLA2G6):c.40G>A (p.Val14Ile)	Infantile neuroaxonal dystrophy [RCV003070955]	uncertain significance	22	38169387	38169387	Human	1	name
156252184	CV1883894	single nucleotide variant	NM_003560.4(PLA2G6):c.348C>T (p.Asn116=)	Infantile neuroaxonal dystrophy [RCV003086143]\|not provided [RCV003435870]	likely benign	22	38145515	38145515	Human	1	name
156019564	CV1909392	single nucleotide variant	NM_003560.4(PLA2G6):c.774G>A (p.Ser258=)	Infantile neuroaxonal dystrophy [RCV002619324]	likely benign	22	38140005	38140005	Human	1	name
156028411	CV1914107	single nucleotide variant	NM_003560.4(PLA2G6):c.546C>T (p.Thr182=)	Infantile neuroaxonal dystrophy [RCV002619736]	likely benign	22	38143168	38143168	Human	1	name
156436092	CV1937322	single nucleotide variant	NM_003560.4(PLA2G6):c.927C>T (p.Asn309=)	Infantile neuroaxonal dystrophy [RCV003105184]	likely benign	22	38132981	38132981	Human	1	name
156022812	CV2055621	single nucleotide variant	NM_003560.4(PLA2G6):c.76G>A (p.Glu26Lys)	Infantile neuroaxonal dystrophy [RCV002820695]	uncertain significance	22	38169351	38169351	Human	1	name
156201649	CV2062964	single nucleotide variant	NM_003560.4(PLA2G6):c.993C>T (p.Asp331=)	Infantile neuroaxonal dystrophy [RCV002828960]	likely benign	22	38132915	38132915	Human	1	name
156313151	CV2079057	single nucleotide variant	NM_003560.4(PLA2G6):c.741C>T (p.Asn247=)	Infantile neuroaxonal dystrophy [RCV002898834]	likely benign	22	38140038	38140038	Human	1	name
156225106	CV2115314	single nucleotide variant	NM_003560.4(PLA2G6):c.75G>T (p.Lys25Asn)	Inborn genetic diseases [RCV004654052]\|Infantile neuroaxonal dystrophy [RCV002932607]\|not provided [RCV004823077]	uncertain significance	22	38169352	38169352	Human	2	name
156131357	CV2116876	single nucleotide variant	NM_003560.4(PLA2G6):c.669G>A (p.Pro223=)	Infantile neuroaxonal dystrophy [RCV002928212]	likely benign	22	38140110	38140110	Human	1	name
155953842	CV2143800	single nucleotide variant	NM_003560.4(PLA2G6):c.711C>T (p.Arg237=)	Infantile neuroaxonal dystrophy [RCV002994783]	likely benign	22	38140068	38140068	Human	1	name
156319771	CV2170239	deletion	NM_003560.4(PLA2G6):c.1186+13_1186+19del	Infantile neuroaxonal dystrophy [RCV003029082]	likely benign	22	38129435	38129441	Human	1	name
402495095	CV2856754	single nucleotide variant	NM_003560.4(PLA2G6):c.663G>C (p.Leu221=)	Infantile neuroaxonal dystrophy [RCV003508089]	likely benign	22	38140116	38140116	Human	1	name
402494710	CV2863282	single nucleotide variant	NM_003560.4(PLA2G6):c.876C>T (p.His292=)	Infantile neuroaxonal dystrophy [RCV003508064]	likely benign	22	38135006	38135006	Human	1	name
402490296	CV2864081	single nucleotide variant	NM_003560.4(PLA2G6):c.945C>T (p.Ser315=)	Infantile neuroaxonal dystrophy [RCV003507558]	likely benign	22	38132963	38132963	Human	1	name
402501488	CV2883913	single nucleotide variant	NM_003560.4(PLA2G6):c.681C>G (p.Ala227=)	Infantile neuroaxonal dystrophy [RCV003508775]	likely benign	22	38140098	38140098	Human	1	name
402500010	CV2885994	single nucleotide variant	NM_003560.4(PLA2G6):c.606G>A (p.Leu202=)	Infantile neuroaxonal dystrophy [RCV003508613]	likely benign	22	38143108	38143108	Human	1	name
402500526	CV2886449	single nucleotide variant	NM_003560.4(PLA2G6):c.303C>T (p.Val101=)	Infantile neuroaxonal dystrophy [RCV003508667]	likely benign	22	38145560	38145560	Human	1	name
402501388	CV2887192	single nucleotide variant	NM_003560.4(PLA2G6):c.675C>T (p.His225=)	Infantile neuroaxonal dystrophy [RCV003508763]	likely benign	22	38140104	38140104	Human	1	name
402483734	CV2900157	single nucleotide variant	NM_003560.4(PLA2G6):c.987C>A (p.Arg329=)	Infantile neuroaxonal dystrophy [RCV003506767]	likely benign	22	38132921	38132921	Human	1	name
402487590	CV2910315	duplication	NM_003560.4(PLA2G6):c.1348+11_1348+17dup	Infantile neuroaxonal dystrophy [RCV003507161]	likely benign	22	38128251	38128252	Human	1	name
402488025	CV2910812	single nucleotide variant	NM_003560.4(PLA2G6):c.666C>A (p.Thr222=)	Infantile neuroaxonal dystrophy [RCV003507208]	likely benign	22	38140113	38140113	Human	1	name
402491660	CV2911259	single nucleotide variant	NM_003560.4(PLA2G6):c.849C>T (p.Asp283=)	Infantile neuroaxonal dystrophy [RCV003507726]	likely benign	22	38135033	38135033	Human	1	name
402485661	CV2915424	single nucleotide variant	NM_003560.4(PLA2G6):c.750C>T (p.Gly250=)	Infantile neuroaxonal dystrophy [RCV003506952]	likely benign	22	38140029	38140029	Human	1	name
402493818	CV2923969	single nucleotide variant	NM_003560.4(PLA2G6):c.762C>T (p.Tyr254=)	Infantile neuroaxonal dystrophy [RCV003507937]	likely benign	22	38140017	38140017	Human	1	name
402492587	CV2925832	single nucleotide variant	NM_003560.4(PLA2G6):c.390G>A (p.Gly130=)	Infantile neuroaxonal dystrophy [RCV003507799]	likely benign	22	38145473	38145473	Human	1	name
402493887	CV2933320	single nucleotide variant	NM_003560.4(PLA2G6):c.564C>G (p.Thr188=)	Infantile neuroaxonal dystrophy [RCV003507944]	likely benign	22	38143150	38143150	Human	1	name
405113272	CV2937602	single nucleotide variant	NM_003560.4(PLA2G6):c.960C>T (p.Ala320=)	Infantile neuroaxonal dystrophy [RCV003616009]	likely benign	22	38132948	38132948	Human	1	name
405113968	CV2950639	single nucleotide variant	NM_003560.4(PLA2G6):c.867C>T (p.Ser289=)	Infantile neuroaxonal dystrophy [RCV003616106]	likely benign	22	38135015	38135015	Human	1	name
405114770	CV2968136	single nucleotide variant	NM_003560.4(PLA2G6):c.676C>T (p.Leu226=)	Infantile neuroaxonal dystrophy [RCV003616244]	likely benign	22	38140103	38140103	Human	1	name
405115483	CV2984592	single nucleotide variant	NM_003560.4(PLA2G6):c.495G>T (p.Gly165=)	Infantile neuroaxonal dystrophy [RCV003616352]	likely benign	22	38143219	38143219	Human	1	name
405115512	CV2984677	single nucleotide variant	NM_003560.4(PLA2G6):c.570C>T (p.Phe190=)	Infantile neuroaxonal dystrophy [RCV003616355]	likely benign	22	38143144	38143144	Human	1	name
405115653	CV2988123	single nucleotide variant	NM_003560.4(PLA2G6):c.363A>G (p.Ser121=)	Infantile neuroaxonal dystrophy [RCV003616372]	likely benign	22	38145500	38145500	Human	1	name
405117974	CV2997521	single nucleotide variant	NM_003560.4(PLA2G6):c.612C>G (p.Leu204=)	Infantile neuroaxonal dystrophy [RCV003616667]	likely benign	22	38140167	38140167	Human	1	name
405118448	CV3005389	single nucleotide variant	NM_003560.4(PLA2G6):c.696G>A (p.Lys232=)	Infantile neuroaxonal dystrophy [RCV003616726]	likely benign	22	38140083	38140083	Human	1	name
405119137	CV3007135	single nucleotide variant	NM_003560.4(PLA2G6):c.663G>A (p.Leu221=)	Infantile neuroaxonal dystrophy [RCV003616812]	likely benign	22	38140116	38140116	Human	1	name
405119954	CV3019408	single nucleotide variant	NM_003560.4(PLA2G6):c.465C>A (p.Pro155=)	Infantile neuroaxonal dystrophy [RCV003616918]	likely benign	22	38143249	38143249	Human	1	name
405120187	CV3026993	single nucleotide variant	NM_003560.4(PLA2G6):c.936C>T (p.Ser312=)	Infantile neuroaxonal dystrophy [RCV003616947]	likely benign	22	38132972	38132972	Human	1	name
405120605	CV3034449	single nucleotide variant	NM_003560.4(PLA2G6):c.864C>T (p.Ala288=)	Infantile neuroaxonal dystrophy [RCV003617000]	likely benign	22	38135018	38135018	Human	1	name
405121235	CV3039252	single nucleotide variant	NM_003560.4(PLA2G6):c.672G>A (p.Leu224=)	Infantile neuroaxonal dystrophy [RCV003617074]	likely benign	22	38140107	38140107	Human	1	name
405120684	CV3040294	single nucleotide variant	NM_003560.4(PLA2G6):c.498G>A (p.Glu166=)	Infantile neuroaxonal dystrophy [RCV003617010]	likely benign	22	38143216	38143216	Human	1	name
405120689	CV3040295	deletion	NM_003560.4(PLA2G6):c.1186+18_1186+19del	Infantile neuroaxonal dystrophy [RCV003617011]	likely benign	22	38129435	38129436	Human	1	name
405121411	CV3042876	single nucleotide variant	NM_003560.4(PLA2G6):c.519G>A (p.Gln173=)	Infantile neuroaxonal dystrophy [RCV003617098]	likely benign	22	38143195	38143195	Human	1	name
405122375	CV3045409	single nucleotide variant	NM_003560.4(PLA2G6):c.502C>T (p.Leu168=)	Infantile neuroaxonal dystrophy [RCV003617216]	likely benign	22	38143212	38143212	Human	1	name
405121843	CV3047253	single nucleotide variant	NM_003560.4(PLA2G6):c.714G>A (p.Val238=)	Infantile neuroaxonal dystrophy [RCV003617149]	likely benign	22	38140065	38140065	Human	1	name
405121567	CV3050038	single nucleotide variant	NM_003560.4(PLA2G6):c.723G>A (p.Leu241=)	Infantile neuroaxonal dystrophy [RCV003617116]	likely benign	22	38140056	38140056	Human	1	name
405122395	CV3055713	single nucleotide variant	NM_003560.4(PLA2G6):c.661C>T (p.Leu221=)	Infantile neuroaxonal dystrophy [RCV003617219]	likely benign	22	38140118	38140118	Human	1	name
405122738	CV3057172	single nucleotide variant	NM_003560.4(PLA2G6):c.423C>T (p.Ile141=)	Infantile neuroaxonal dystrophy [RCV003617267]	likely benign	22	38145440	38145440	Human	1	name
405111351	CV3072824	single nucleotide variant	NM_003560.4(PLA2G6):c.459C>T (p.Cys153=)	Infantile neuroaxonal dystrophy [RCV003615632]	likely benign	22	38143255	38143255	Human	1	name
405112178	CV3076999	single nucleotide variant	NM_003560.4(PLA2G6):c.723G>C (p.Leu241=)	Infantile neuroaxonal dystrophy [RCV003615740]	likely benign	22	38140056	38140056	Human	1	name
405112250	CV3077177	single nucleotide variant	NM_003560.4(PLA2G6):c.333C>T (p.Thr111=)	Inborn genetic diseases [RCV005387250]\|Infantile neuroaxonal dystrophy [RCV003615751]	likely benign	22	38145530	38145530	Human	2	name
405112433	CV3077332	single nucleotide variant	NM_003560.4(PLA2G6):c.909G>A (p.Leu303=)	Infantile neuroaxonal dystrophy [RCV003615782]	likely benign	22	38132999	38132999	Human	1	name
405112135	CV3079829	single nucleotide variant	NM_003560.4(PLA2G6):c.666C>G (p.Thr222=)	Infantile neuroaxonal dystrophy [RCV003615733]	likely benign	22	38140113	38140113	Human	1	name
405083321	CV3137520	single nucleotide variant	NM_003560.4(PLA2G6):c.516G>A (p.Val172=)	Infantile neuroaxonal dystrophy [RCV003834229]	likely benign	22	38143198	38143198	Human	1	name
405089553	CV3138148	single nucleotide variant	NM_003560.4(PLA2G6):c.393C>T (p.Ile131=)	Infantile neuroaxonal dystrophy [RCV003834666]	likely benign	22	38145470	38145470	Human	1	name
405167944	CV3153609	single nucleotide variant	NM_003560.4(PLA2G6):c.522C>T (p.Tyr174=)	Infantile neuroaxonal dystrophy [RCV003841154]	likely benign	22	38143192	38143192	Human	1	name
405232016	CV3157509	single nucleotide variant	NM_003560.4(PLA2G6):c.861A>T (p.Gly287=)	Infantile neuroaxonal dystrophy [RCV003865459]	likely benign	22	38135021	38135021	Human	1	name
405218111	CV3161254	single nucleotide variant	NM_003560.4(PLA2G6):c.591C>T (p.Asp197=)	Infantile neuroaxonal dystrophy [RCV003863123]	likely benign	22	38143123	38143123	Human	1	name
405128331	CV3163209	single nucleotide variant	NM_003560.4(PLA2G6):c.525C>T (p.Cys175=)	Infantile neuroaxonal dystrophy [RCV003854390]	likely benign	22	38143189	38143189	Human	1	name
405224142	CV3168813	single nucleotide variant	NM_003560.4(PLA2G6):c.303C>A (p.Val101=)	Infantile neuroaxonal dystrophy [RCV003864028]	likely benign	22	38145560	38145560	Human	1	name
405242451	CV3173330	single nucleotide variant	NM_003560.4(PLA2G6):c.582C>T (p.Val194=)	Infantile neuroaxonal dystrophy [RCV003867615]	likely benign	22	38143132	38143132	Human	1	name
402469765	CV3174809	single nucleotide variant	NM_003560.4(PLA2G6):c.792G>A (p.Gln264=)	Infantile neuroaxonal dystrophy [RCV003873920]	likely benign	22	38139987	38139987	Human	1	name
405261517	CV3186117	single nucleotide variant	NM_003560.4(PLA2G6):c.85G>A (p.Val29Met)	not provided [RCV003885193]	uncertain significance	22	38169342	38169342	Human		name
11630047	CV347758	single nucleotide variant	NM_003560.4(PLA2G6):c.441G>A (p.Ala147=)	Infantile neuroaxonal dystrophy [RCV002523228]\|PLA2G6-associated neurodegeneration [RCV000340020]	likely benign\|uncertain significance	22	38143273	38143273	Human	1	name
408390537	CV3519407	single nucleotide variant	NM_003560.4(PLA2G6):c.70G>A (p.Val24Met)	not provided [RCV004762716]	uncertain significance	22	38169357	38169357	Human		name
11630490	CV352558	single nucleotide variant	NM_003560.4(PLA2G6):c.990C>T (p.Phe330=)	Infantile neuroaxonal dystrophy [RCV000351524]\|PLA2G6-associated neurodegeneration [RCV001094821]\|not provided [RCV001532471]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38132918	38132918	Human	1	name
11626234	CV352560	single nucleotide variant	NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)	Inborn genetic diseases [RCV002523229]\|Infantile neuroaxonal dystrophy [RCV000260236]\|Infantile neuroaxonal dystrophy [RCV000765653]\|PLA2G6-associated neurodegeneration [RCV001094773]\|not provided [RCV000762074]	likely benign\|uncertain significance	22	38169336	38169336	Human	2	name
597725573	CV3569727	single nucleotide variant	NM_003560.4(PLA2G6):c.80T>G (p.Val27Gly)	Inborn genetic diseases [RCV004962105]	uncertain significance	22	38169347	38169347	Human	1	name
597957266	CV3751396	single nucleotide variant	NM_003560.4(PLA2G6):c.603G>T (p.Val201=)	Infantile neuroaxonal dystrophy [RCV005080701]	likely benign	22	38143111	38143111	Human	1	name
597842458	CV3752993	single nucleotide variant	NM_003560.4(PLA2G6):c.718C>T (p.Leu240=)	Infantile neuroaxonal dystrophy [RCV005086722]	likely benign	22	38140061	38140061	Human	1	name
597836998	CV3761424	single nucleotide variant	NM_003560.4(PLA2G6):c.903C>A (p.Arg301=)	Infantile neuroaxonal dystrophy [RCV005085795]	likely benign	22	38133005	38133005	Human	1	name
597845686	CV3765670	single nucleotide variant	NM_003560.4(PLA2G6):c.486G>A (p.Lys162=)	Infantile neuroaxonal dystrophy [RCV005121314]	likely benign	22	38143228	38143228	Human	1	name
597843889	CV3765795	single nucleotide variant	NM_003560.4(PLA2G6):c.531T>C (p.Thr177=)	Infantile neuroaxonal dystrophy [RCV005119173]	likely benign	22	38143183	38143183	Human	1	name
597842745	CV3775319	single nucleotide variant	NM_003560.4(PLA2G6):c.76G>T (p.Glu26Ter)	Infantile neuroaxonal dystrophy [RCV005118145]	pathogenic	22	38169351	38169351	Human	1	name
597848525	CV3783599	single nucleotide variant	NM_003560.4(PLA2G6):c.630G>A (p.Val210=)	Infantile neuroaxonal dystrophy [RCV005124095]	likely benign	22	38140149	38140149	Human	1	name
597868646	CV3790971	single nucleotide variant	NM_003560.4(PLA2G6):c.477C>T (p.Ala159=)	Infantile neuroaxonal dystrophy [RCV005143186]	likely benign	22	38143237	38143237	Human	1	name
13503461	CV471583	single nucleotide variant	NM_003560.4(PLA2G6):c.396C>T (p.Arg132=)	Infantile neuroaxonal dystrophy [RCV000546120]\|PLA2G6-associated neurodegeneration [RCV001150841]\|not provided [RCV001310808]	likely benign\|uncertain significance	22	38145467	38145467	Human	1	name
13810943	CV577908	single nucleotide variant	NM_003560.4(PLA2G6):c.756C>T (p.Asn252=)	Infantile neuroaxonal dystrophy [RCV002532935]\|not provided [RCV000712687]	likely benign	22	38140023	38140023	Human	1	name
15111675	CV694739	single nucleotide variant	NM_003560.4(PLA2G6):c.966C>T (p.His322=)	Infantile neuroaxonal dystrophy [RCV000872364]\|PLA2G6-associated neurodegeneration [RCV001147486]\|not provided [RCV001550210]\|not specified [RCV001664511]	likely benign\|uncertain significance	22	38132942	38132942	Human	1	name
15125328	CV694740	single nucleotide variant	NM_003560.4(PLA2G6):c.564C>T (p.Thr188=)	Infantile neuroaxonal dystrophy [RCV000874932]\|not provided [RCV001356536]	likely benign\|uncertain significance	22	38143150	38143150	Human	1	name
15176788	CV705931	single nucleotide variant	NM_003560.4(PLA2G6):c.447C>T (p.Asn149=)	Infantile neuroaxonal dystrophy [RCV000950904]\|Infantile neuroaxonal dystrophy [RCV002502924]\|not provided [RCV001593142]	likely benign	22	38143267	38143267	Human	1	name
15195535	CV758088	single nucleotide variant	NM_003560.4(PLA2G6):c.510G>A (p.Glu170=)	Infantile neuroaxonal dystrophy [RCV000911443]\|Infantile neuroaxonal dystrophy [RCV005392541]	likely benign\|uncertain significance	22	38143204	38143204	Human	1	name
15118841	CV773551	single nucleotide variant	NM_003560.4(PLA2G6):c.858C>T (p.Tyr286=)	Infantile neuroaxonal dystrophy [RCV003507338]\|not provided [RCV000940081]	likely benign	22	38135024	38135024	Human	1	name
21068353	CV798106	single nucleotide variant	NM_003560.4(PLA2G6):c.29C>A (p.Thr10Asn)	Autosomal recessive Parkinson disease 14 [RCV002290512]\|not provided [RCV000997931]	uncertain significance	22	38169398	38169398	Human	1	name
28905034	CV891308	single nucleotide variant	NM_003560.4(PLA2G6):c.67C>T (p.Arg23Trp)	PLA2G6-associated neurodegeneration [RCV001144724]	uncertain significance	22	38169360	38169360	Human	1	name
34890752	CV904708	single nucleotide variant	NM_003560.4(PLA2G6):c.624C>T (p.Asn208=)	Infantile neuroaxonal dystrophy [RCV002068053]\|not provided [RCV001171728]	likely benign	22	38140155	38140155	Human	1	name
126742728	CV1022108	single nucleotide variant	NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln)	Infantile neuroaxonal dystrophy [RCV001336583]\|Infantile neuroaxonal dystrophy [RCV002486344]\|PLA2G6-associated neurodegeneration [RCV002546786]	uncertain significance	22	38169311	38169311	Human	1	name
126908217	CV1052146	single nucleotide variant	NM_003560.4(PLA2G6):c.211C>T (p.Leu71Phe)	Infantile neuroaxonal dystrophy [RCV001362621]	uncertain significance	22	38145652	38145652	Human	1	name
127275650	CV1107737	single nucleotide variant	NM_003560.4(PLA2G6):c.1695G>A (p.Lys565=)	Infantile neuroaxonal dystrophy [RCV001432468]	likely benign	22	38120806	38120806	Human	1	name
127319843	CV1150139	single nucleotide variant	NM_003560.4(PLA2G6):c.1341C>T (p.Asn447=)	Infantile neuroaxonal dystrophy [RCV001504200]	likely benign	22	38128276	38128276	Human	1	name
127291905	CV1159171	single nucleotide variant	NM_003560.4(PLA2G6):c.2355C>T (p.Thr785=)	Infantile neuroaxonal dystrophy [RCV001510610]\|not provided [RCV003434300]	benign\|likely benign	22	38112227	38112227	Human	1	name
150417900	CV1181999	single nucleotide variant	NM_003560.4(PLA2G6):c.1548G>A (p.Ala516=)	Infantile neuroaxonal dystrophy [RCV002032582]\|not provided [RCV001550356]	likely benign\|uncertain significance	22	38123138	38123138	Human	1	name
150407175	CV1192395	single nucleotide variant	NM_003560.4(PLA2G6):c.1416C>T (p.Asp472=)	Infantile neuroaxonal dystrophy [RCV002072157]\|not provided [RCV001564942]	likely benign	22	38126382	38126382	Human	1	name
150419394	CV1195646	single nucleotide variant	NM_003560.4(PLA2G6):c.1956C>T (p.Asp652=)	Infantile neuroaxonal dystrophy [RCV002072198]\|not provided [RCV001569667]	likely benign	22	38115605	38115605	Human	1	name
150434578	CV1243985	single nucleotide variant	NM_003560.4(PLA2G6):c.1665C>T (p.Tyr555=)	Infantile neuroaxonal dystrophy [RCV002073043]\|not provided [RCV001665192]	likely benign	22	38120836	38120836	Human	1	name
150482561	CV1269794	deletion	NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile)	Neurofibromatosis, type 2 [RCV001693498]	pathogenic	22	29661297	29661312	Human		name
151353766	CV1327318	single nucleotide variant	NM_003560.4(PLA2G6):c.1119A>C (p.Gly373=)	Infantile neuroaxonal dystrophy [RCV002074277]\|not specified [RCV001817262]	likely benign	22	38129521	38129521	Human	1	name
151821392	CV1378556	single nucleotide variant	NM_003560.4(PLA2G6):c.2379C>T (p.Arg793=)	Infantile neuroaxonal dystrophy [RCV002029925]	likely benign\|uncertain significance	22	38112203	38112203	Human	1	name
151772054	CV1410981	single nucleotide variant	NM_003560.4(PLA2G6):c.238G>T (p.Ala80Ser)	Infantile neuroaxonal dystrophy [RCV001971278]\|not specified [RCV004690207]	likely pathogenic\|uncertain significance	22	38145625	38145625	Human	1	name
151757592	CV1437367	single nucleotide variant	NM_003560.4(PLA2G6):c.185C>T (p.Pro62Leu)	Infantile neuroaxonal dystrophy [RCV001894951]	uncertain significance	22	38169242	38169242	Human	1	name
151771096	CV1481837	single nucleotide variant	NM_003560.4(PLA2G6):c.260A>C (p.Tyr87Ser)	Infantile neuroaxonal dystrophy [RCV002008848]	uncertain significance	22	38145603	38145603	Human	1	name
152034089	CV1542839	single nucleotide variant	NM_003560.4(PLA2G6):c.1650G>A (p.Arg550=)	Infantile neuroaxonal dystrophy [RCV002106685]	likely benign	22	38120851	38120851	Human	1	name
152109078	CV1550893	single nucleotide variant	NM_003560.4(PLA2G6):c.1167A>G (p.Leu389=)	Infantile neuroaxonal dystrophy [RCV002152798]	likely benign	22	38129473	38129473	Human	1	name
152148780	CV1551966	single nucleotide variant	NM_003560.4(PLA2G6):c.1860G>A (p.Arg620=)	Infantile neuroaxonal dystrophy [RCV002157849]	likely benign	22	38116094	38116094	Human	1	name
152079629	CV1557925	single nucleotide variant	NM_003560.4(PLA2G6):c.2151G>A (p.Leu717=)	Infantile neuroaxonal dystrophy [RCV002170368]	likely benign	22	38113538	38113538	Human	1	name
152068107	CV1567051	single nucleotide variant	NM_003560.4(PLA2G6):c.1179C>T (p.Ile393=)	Infantile neuroaxonal dystrophy [RCV002091205]	likely benign	22	38129461	38129461	Human	1	name
152030303	CV1570921	single nucleotide variant	NM_003560.4(PLA2G6):c.2067C>T (p.Ile689=)	Infantile neuroaxonal dystrophy [RCV002105884]	likely benign	22	38113622	38113622	Human	1	name
152033619	CV1572947	single nucleotide variant	NM_003560.4(PLA2G6):c.2343C>T (p.Ala781=)	Infantile neuroaxonal dystrophy [RCV002187122]	likely benign	22	38112239	38112239	Human	1	name
152113099	CV1573423	single nucleotide variant	NM_003560.4(PLA2G6):c.1779G>A (p.Pro593=)	Infantile neuroaxonal dystrophy [RCV002215761]\|not provided [RCV003434401]	likely benign	22	38116175	38116175	Human	1	name
152087118	CV1602459	single nucleotide variant	NM_003560.4(PLA2G6):c.1233C>T (p.Ala411=)	Infantile neuroaxonal dystrophy [RCV002113543]	likely benign	22	38128384	38128384	Human	1	name
152164186	CV1605000	single nucleotide variant	NM_003560.4(PLA2G6):c.1137G>A (p.Pro379=)	Infantile neuroaxonal dystrophy [RCV002203984]	likely benign	22	38129503	38129503	Human	1	name
152135154	CV1642176	single nucleotide variant	NM_003560.4(PLA2G6):c.2124C>G (p.Val708=)	Infantile neuroaxonal dystrophy [RCV002119600]	likely benign	22	38113565	38113565	Human	1	name
152126134	CV1646303	single nucleotide variant	NM_003560.4(PLA2G6):c.1005G>A (p.Val335=)	Infantile neuroaxonal dystrophy [RCV002217430]	likely benign	22	38132903	38132903	Human	1	name
152067896	CV1647251	single nucleotide variant	NM_003560.4(PLA2G6):c.1500C>T (p.Ile500=)	Infantile neuroaxonal dystrophy [RCV002129214]	likely benign	22	38123186	38123186	Human	1	name
152075691	CV1653172	single nucleotide variant	NM_003560.4(PLA2G6):c.1266C>T (p.Pro422=)	Infantile neuroaxonal dystrophy [RCV002075702]	likely benign	22	38128351	38128351	Human	1	name
152983263	CV1678090	duplication	NM_003560.4(PLA2G6):c.437dup (p.Cys146fs)	Infantile neuroaxonal dystrophy [RCV002250246]\|See cases [RCV002252781]	pathogenic\|likely pathogenic	22	38143276	38143277	Human	1	name
153305027	CV1687476	single nucleotide variant	NM_003560.4(PLA2G6):c.1200G>A (p.Lys400=)	not provided [RCV002263296]	likely benign	22	38128417	38128417	Human		name
9683672	CV169763	single nucleotide variant	NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=)	Infantile neuroaxonal dystrophy [RCV000344059]\|PLA2G6-associated neurodegeneration [RCV001094906]\|not provided [RCV000658941]\|not specified [RCV000147320]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38112242	38112242	Human	1	name
9683651	CV169783	single nucleotide variant	NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=)	Infantile neuroaxonal dystrophy [RCV002055921]\|Iron accumulation in brain [RCV000147299]\|PLA2G6-associated neurodegeneration [RCV000303071]\|not provided [RCV000952288]	likely benign\|uncertain significance	22	38120776	38120776	Human	3	name
9683634	CV169800	single nucleotide variant	NM_003560.4(PLA2G6):c.1086C>T (p.Asn362=)	Infantile neuroaxonal dystrophy [RCV001518068]\|PLA2G6-associated neurodegeneration [RCV000319306]\|not provided [RCV001682856]\|not specified [RCV000147281]	benign\|likely benign	22	38129554	38129554	Human	1	name
9683685	CV169809	deletion	NM_003560.4(PLA2G6):c.755del (p.Asn252fs)	Infantile neuroaxonal dystrophy [RCV001849998]\|Infantile neuroaxonal dystrophy [RCV005025227]\|Iron accumulation in brain [RCV000147334]\|PLA2G6-associated neurodegeneration [RCV002514838]\|not provided [RCV001726002]	pathogenic\|likely pathogenic	22	38140024	38140024	Human	3	name
9683652	CV169817	single nucleotide variant	NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile)	Infantile neuroaxonal dystrophy [RCV000872033]\|not provided [RCV001580111]\|not specified [RCV000147300]	benign\|likely benign	22	38169255	38169255	Human	1	name
155795807	CV1861511	single nucleotide variant	NM_003560.4(PLA2G6):c.268C>G (p.Gln90Glu)	not provided [RCV002469793]	uncertain significance	22	38145595	38145595	Human		name
156271895	CV1870799	single nucleotide variant	NM_003560.4(PLA2G6):c.1482C>T (p.Ile494=)	Infantile neuroaxonal dystrophy [RCV003060749]	likely benign	22	38123204	38123204	Human	1	name
156211947	CV1872462	single nucleotide variant	NM_003560.4(PLA2G6):c.158G>A (p.Arg53His)	Infantile neuroaxonal dystrophy [RCV003058562]	uncertain significance	22	38169269	38169269	Human	1	name
156405615	CV1884510	single nucleotide variant	NM_003560.4(PLA2G6):c.154A>G (p.Asn52Asp)	Infantile neuroaxonal dystrophy [RCV003070078]	uncertain significance	22	38169273	38169273	Human	1	name
156370280	CV1888003	single nucleotide variant	NM_003560.4(PLA2G6):c.1269G>A (p.Ala423=)	Infantile neuroaxonal dystrophy [RCV003092365]	likely benign	22	38128348	38128348	Human	1	name
156401469	CV1889132	single nucleotide variant	NM_003560.4(PLA2G6):c.1512G>A (p.Ser504=)	Infantile neuroaxonal dystrophy [RCV003069179]\|not provided [RCV003312073]	uncertain significance	22	38123174	38123174	Human	1	name
156034774	CV1890081	single nucleotide variant	NM_003560.4(PLA2G6):c.1914G>A (p.Gly638=)	Infantile neuroaxonal dystrophy [RCV003078268]	likely benign	22	38115647	38115647	Human	1	name
156259750	CV1906460	single nucleotide variant	NM_003560.4(PLA2G6):c.1257C>T (p.His419=)	Infantile neuroaxonal dystrophy [RCV003086397]	likely benign	22	38128360	38128360	Human	1	name
155950619	CV1921926	single nucleotide variant	NM_003560.4(PLA2G6):c.1992C>T (p.Ala664=)	Infantile neuroaxonal dystrophy [RCV002616203]	likely benign	22	38115569	38115569	Human	1	name
156057503	CV1930770	single nucleotide variant	NM_003560.4(PLA2G6):c.1899G>A (p.Ala633=)	Infantile neuroaxonal dystrophy [RCV002638163]	likely benign	22	38115662	38115662	Human	1	name
155912620	CV1935352	single nucleotide variant	NM_003560.4(PLA2G6):c.221T>C (p.Leu74Pro)	Infantile neuroaxonal dystrophy [RCV002510684]	uncertain significance	22	38145642	38145642	Human	1	name
156435495	CV1940771	single nucleotide variant	NM_003560.4(PLA2G6):c.1149G>A (p.Gly383=)	Infantile neuroaxonal dystrophy [RCV003104877]	likely benign	22	38129491	38129491	Human	1	name
156388597	CV1996014	single nucleotide variant	NM_003560.4(PLA2G6):c.1779G>C (p.Pro593=)	Infantile neuroaxonal dystrophy [RCV002654180]	likely benign	22	38116175	38116175	Human	1	name
156017729	CV2019156	single nucleotide variant	NM_003560.4(PLA2G6):c.1887G>T (p.Leu629=)	Infantile neuroaxonal dystrophy [RCV002690848]	likely benign	22	38115674	38115674	Human	1	name
156372301	CV2028180	single nucleotide variant	NM_003560.4(PLA2G6):c.1809T>C (p.Asp603=)	Infantile neuroaxonal dystrophy [RCV002721620]	likely benign	22	38116145	38116145	Human	1	name
156026067	CV2055825	single nucleotide variant	NM_003560.4(PLA2G6):c.1965G>A (p.Leu655=)	Infantile neuroaxonal dystrophy [RCV002820851]	likely benign	22	38115596	38115596	Human	1	name
156063912	CV2065495	single nucleotide variant	NM_003560.4(PLA2G6):c.1140T>C (p.Asn380=)	Infantile neuroaxonal dystrophy [RCV002846865]	likely benign	22	38129500	38129500	Human	1	name
10404653	CV208793	single nucleotide variant	NM_003560.4(PLA2G6):c.2364C>T (p.Tyr788=)	not specified [RCV000195179]	uncertain significance	22	38112218	38112218	Human		name
155963580	CV2089260	single nucleotide variant	NM_003560.4(PLA2G6):c.1218G>A (p.Leu406=)	Infantile neuroaxonal dystrophy [RCV002881139]	likely benign	22	38128399	38128399	Human	1	name
155980406	CV2101735	single nucleotide variant	NM_003560.4(PLA2G6):c.1530C>T (p.Asp510=)	Infantile neuroaxonal dystrophy [RCV002907679]	likely benign	22	38123156	38123156	Human	1	name
156020622	CV2109533	single nucleotide variant	NM_003560.4(PLA2G6):c.2367C>T (p.Ile789=)	Infantile neuroaxonal dystrophy [RCV002923044]	likely benign	22	38112215	38112215	Human	1	name
156021420	CV2111060	single nucleotide variant	NM_003560.4(PLA2G6):c.2250C>T (p.Cys750=)	Infantile neuroaxonal dystrophy [RCV002909632]	likely benign	22	38112530	38112530	Human	1	name
156334223	CV2112978	single nucleotide variant	NM_003560.4(PLA2G6):c.2208G>A (p.Thr736=)	Infantile neuroaxonal dystrophy [RCV002938536]	likely benign	22	38112572	38112572	Human	1	name
8559173	CV21241	single nucleotide variant	NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)	Infantile neuroaxonal dystrophy [RCV000535771]\|Infantile neuroaxonal dystrophy [RCV000660638]\|Neurodegeneration with brain iron accumulation 2B [RCV000006580]\|PLA2G6-associated neurodegeneration [RCV002512839]\|not provided [RCV001540404]	pathogenic\|likely pathogenic\|uncertain significance	22	38145625	38145625	Human	2	name
155935687	CV2125664	single nucleotide variant	NM_003560.4(PLA2G6):c.1029G>A (p.Ala343=)	Infantile neuroaxonal dystrophy [RCV002970926]\|not provided [RCV003222452]	likely benign	22	38132879	38132879	Human	1	name
156137353	CV2129110	single nucleotide variant	NM_003560.4(PLA2G6):c.110G>A (p.Arg37Gln)	Infantile neuroaxonal dystrophy [RCV002954098]	uncertain significance	22	38169317	38169317	Human	1	name
156152628	CV2131860	single nucleotide variant	NM_003560.4(PLA2G6):c.1788C>T (p.Leu596=)	Infantile neuroaxonal dystrophy [RCV002982707]	likely benign	22	38116166	38116166	Human	1	name
156155231	CV2132015	single nucleotide variant	NM_003560.4(PLA2G6):c.104G>A (p.Ser35Asn)	Infantile neuroaxonal dystrophy [RCV002982796]\|not provided [RCV004790301]	uncertain significance	22	38169323	38169323	Human	1	name
156263185	CV2138780	single nucleotide variant	NM_003560.4(PLA2G6):c.1428C>A (p.Thr476=)	Infantile neuroaxonal dystrophy [RCV002988542]	uncertain significance	22	38123258	38123258	Human	1	name
156220798	CV2144127	single nucleotide variant	NM_003560.4(PLA2G6):c.1911C>T (p.Ser637=)	Infantile neuroaxonal dystrophy [RCV003007373]	likely benign	22	38115650	38115650	Human	1	name
155903041	CV2151737	single nucleotide variant	NM_003560.4(PLA2G6):c.1368C>T (p.His456=)	Infantile neuroaxonal dystrophy [RCV003011751]	likely benign	22	38126430	38126430	Human	1	name
155915715	CV2274351	single nucleotide variant	NM_003560.4(PLA2G6):c.229G>A (p.Glu77Lys)	Inborn genetic diseases [RCV002858926]	uncertain significance	22	38145634	38145634	Human	1	name
156203848	CV2401385	single nucleotide variant	NM_003560.4(PLA2G6):c.278C>A (p.Pro93His)	PLA2G6-associated neurodegeneration [RCV002789945]	uncertain significance	22	38145585	38145585	Human	1	name
156203871	CV2401386	single nucleotide variant	NM_003560.4(PLA2G6):c.127C>T (p.Gln43Ter)	PLA2G6-associated neurodegeneration [RCV002789946]	pathogenic	22	38169300	38169300	Human	1	name
11559982	CV260265	single nucleotide variant	NM_003560.4(PLA2G6):c.208C>T (p.Arg70Ter)	Infantile neuroaxonal dystrophy [RCV001205763]\|Neurodegeneration with brain iron accumulation [RCV004767205]\|not provided [RCV000255422]	pathogenic	22	38169219	38169219	Human	2	name
11577742	CV264928	single nucleotide variant	NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)	Infantile neuroaxonal dystrophy [RCV001382039]\|Infantile neuroaxonal dystrophy [RCV002479994]\|PLA2G6-associated neurodegeneration [RCV002519034]\|not provided [RCV000266508]	pathogenic\|likely pathogenic	22	38132831	38132831	Human	1	name
401926034	CV2822199	single nucleotide variant	NM_003560.4(PLA2G6):c.1894C>A (p.Arg632=)	not provided [RCV003437572]	likely benign	22	38115667	38115667	Human		name
401921890	CV2822200	single nucleotide variant	NM_003560.4(PLA2G6):c.1890G>C (p.Val630=)	not provided [RCV003433211]	likely benign	22	38115671	38115671	Human		name
402494637	CV2863101	single nucleotide variant	NM_003560.4(PLA2G6):c.2094C>A (p.Ser698=)	Infantile neuroaxonal dystrophy [RCV003508056]	likely benign	22	38113595	38113595	Human	1	name
402489971	CV2863623	single nucleotide variant	NM_003560.4(PLA2G6):c.1110C>A (p.Ile370=)	Infantile neuroaxonal dystrophy [RCV003507528]	likely benign	22	38129530	38129530	Human	1	name
402490618	CV2864575	single nucleotide variant	NM_003560.4(PLA2G6):c.2178A>G (p.Glu726=)	Infantile neuroaxonal dystrophy [RCV003507592]	likely benign	22	38113511	38113511	Human	1	name
402491005	CV2865332	single nucleotide variant	NM_003560.4(PLA2G6):c.1248A>T (p.Pro416=)	Infantile neuroaxonal dystrophy [RCV003507655]	likely benign	22	38128369	38128369	Human	1	name
402495706	CV2867721	single nucleotide variant	NM_003560.4(PLA2G6):c.2079G>C (p.Leu693=)	Infantile neuroaxonal dystrophy [RCV003508182]	likely benign	22	38113610	38113610	Human	1	name
402497890	CV2872679	single nucleotide variant	NM_003560.4(PLA2G6):c.1320G>A (p.Gln440=)	Infantile neuroaxonal dystrophy [RCV003508324]	likely benign	22	38128297	38128297	Human	1	name
402499135	CV2881807	single nucleotide variant	NM_003560.4(PLA2G6):c.1110C>T (p.Ile370=)	Infantile neuroaxonal dystrophy [RCV003508522]	likely benign	22	38129530	38129530	Human	1	name
402501730	CV2890763	single nucleotide variant	NM_003560.4(PLA2G6):c.1635G>A (p.Lys545=)	Infantile neuroaxonal dystrophy [RCV003508803]	likely benign	22	38120866	38120866	Human	1	name
402498844	CV2891764	single nucleotide variant	NM_003560.4(PLA2G6):c.2196G>A (p.Val732=)	Infantile neuroaxonal dystrophy [RCV003508491]	likely benign	22	38113493	38113493	Human	1	name
402499805	CV2892372	single nucleotide variant	NM_003560.4(PLA2G6):c.1203G>A (p.Ala401=)	Infantile neuroaxonal dystrophy [RCV003508591]	likely benign	22	38128414	38128414	Human	1	name
402483920	CV2896329	single nucleotide variant	NM_003560.4(PLA2G6):c.1671G>A (p.Ser557=)	Infantile neuroaxonal dystrophy [RCV003506785]	likely benign	22	38120830	38120830	Human	1	name
402485201	CV2897716	single nucleotide variant	NM_003560.4(PLA2G6):c.1392G>A (p.Ala464=)	Infantile neuroaxonal dystrophy [RCV003506907]	likely benign	22	38126406	38126406	Human	1	name
402484676	CV2900902	single nucleotide variant	NM_003560.4(PLA2G6):c.1842C>T (p.Asn614=)	Infantile neuroaxonal dystrophy [RCV003506856]	likely benign	22	38116112	38116112	Human	1	name
402484486	CV2903431	single nucleotide variant	NM_003560.4(PLA2G6):c.1998C>T (p.Thr666=)	Infantile neuroaxonal dystrophy [RCV003506839]	likely benign	22	38115563	38115563	Human	1	name
402484508	CV2903480	single nucleotide variant	NM_003560.4(PLA2G6):c.1821T>G (p.Thr607=)	Infantile neuroaxonal dystrophy [RCV003506841]	likely benign	22	38116133	38116133	Human	1	name
402484914	CV2903989	single nucleotide variant	NM_003560.4(PLA2G6):c.1422G>A (p.Lys474=)	Infantile neuroaxonal dystrophy [RCV003506879]	likely benign	22	38126376	38126376	Human	1	name
402502771	CV2905573	single nucleotide variant	NM_003560.4(PLA2G6):c.1974C>T (p.Asn658=)	Infantile neuroaxonal dystrophy [RCV003508919]	likely benign	22	38115587	38115587	Human	1	name
402503260	CV2906044	single nucleotide variant	NM_003560.4(PLA2G6):c.1908C>T (p.Ser636=)	Infantile neuroaxonal dystrophy [RCV003508971]	likely benign	22	38115653	38115653	Human	1	name
402487532	CV2914846	duplication	NM_003560.4(PLA2G6):c.853dup (p.Arg285fs)	Infantile neuroaxonal dystrophy [RCV003507156]	pathogenic	22	38135028	38135029	Human	1	name
402485952	CV2919320	single nucleotide variant	NM_003560.4(PLA2G6):c.2271C>T (p.Tyr757=)	Infantile neuroaxonal dystrophy [RCV003506983]	likely benign	22	38112509	38112509	Human	1	name
402492347	CV2931595	single nucleotide variant	NM_003560.4(PLA2G6):c.1575C>T (p.Ala525=)	Infantile neuroaxonal dystrophy [RCV003507774]	likely benign	22	38123111	38123111	Human	1	name
402492859	CV2932240	single nucleotide variant	NM_003560.4(PLA2G6):c.1750C>T (p.Leu584=)	Infantile neuroaxonal dystrophy [RCV003507829]	likely benign	22	38116204	38116204	Human	1	name
405113123	CV2940092	single nucleotide variant	NM_003560.4(PLA2G6):c.1047C>T (p.His349=)	Infantile neuroaxonal dystrophy [RCV003615985]	likely benign	22	38132861	38132861	Human	1	name
405113236	CV2940797	single nucleotide variant	NM_003560.4(PLA2G6):c.1524C>G (p.Thr508=)	Infantile neuroaxonal dystrophy [RCV003616003]	likely benign	22	38123162	38123162	Human	1	name
405113472	CV2945351	single nucleotide variant	NM_003560.4(PLA2G6):c.1674G>T (p.Gly558=)	Infantile neuroaxonal dystrophy [RCV003616042]	likely benign	22	38120827	38120827	Human	1	name
405113091	CV2946788	single nucleotide variant	NM_003560.4(PLA2G6):c.1287G>A (p.Ala429=)	Infantile neuroaxonal dystrophy [RCV003615979]	likely benign	22	38128330	38128330	Human	1	name
405113154	CV2947128	single nucleotide variant	NM_003560.4(PLA2G6):c.2223G>T (p.Arg741=)	Infantile neuroaxonal dystrophy [RCV003615990]	likely benign	22	38112557	38112557	Human	1	name
405114357	CV2956053	single nucleotide variant	NM_003560.4(PLA2G6):c.2124C>A (p.Val708=)	Infantile neuroaxonal dystrophy [RCV003616171]	likely benign	22	38113565	38113565	Human	1	name
405113795	CV2960233	single nucleotide variant	NM_003560.4(PLA2G6):c.1674G>A (p.Gly558=)	Infantile neuroaxonal dystrophy [RCV003616077]	likely benign	22	38120827	38120827	Human	1	name
405114612	CV2963952	single nucleotide variant	NM_003560.4(PLA2G6):c.1917A>G (p.Ala639=)	Infantile neuroaxonal dystrophy [RCV003616214]	likely benign	22	38115644	38115644	Human	1	name
405114693	CV2964275	single nucleotide variant	NM_003560.4(PLA2G6):c.1161A>T (p.Thr387=)	Infantile neuroaxonal dystrophy [RCV003616229]	likely benign	22	38129479	38129479	Human	1	name
405114954	CV2965261	single nucleotide variant	NM_003560.4(PLA2G6):c.1656C>T (p.Ser552=)	Infantile neuroaxonal dystrophy [RCV003616275]	likely benign	22	38120845	38120845	Human	1	name
405114870	CV2972067	single nucleotide variant	NM_003560.4(PLA2G6):c.1560T>C (p.Thr520=)	Infantile neuroaxonal dystrophy [RCV003616262]	likely benign	22	38123126	38123126	Human	1	name
405116390	CV2979695	single nucleotide variant	NM_003560.4(PLA2G6):c.1381C>A (p.Arg461=)	Infantile neuroaxonal dystrophy [RCV003616465]	likely benign	22	38126417	38126417	Human	1	name
405115410	CV2980835	single nucleotide variant	NM_003560.4(PLA2G6):c.2418C>G (p.Pro806=)	Infantile neuroaxonal dystrophy [RCV003616343]	likely benign	22	38112164	38112164	Human	1	name
405116985	CV2998566	single nucleotide variant	NM_003560.4(PLA2G6):c.1719G>A (p.Lys573=)	Infantile neuroaxonal dystrophy [RCV003616542]	likely benign	22	38120782	38120782	Human	1	name
405117259	CV2998912	single nucleotide variant	NM_003560.4(PLA2G6):c.1998C>G (p.Thr666=)	Infantile neuroaxonal dystrophy [RCV003616579]	likely benign	22	38115563	38115563	Human	1	name
405116961	CV3001615	single nucleotide variant	NM_003560.4(PLA2G6):c.2058A>G (p.Lys686=)	Infantile neuroaxonal dystrophy [RCV003616539]\|not provided [RCV004703324]	likely benign	22	38113631	38113631	Human	1	name
405117557	CV3003035	single nucleotide variant	NM_003560.4(PLA2G6):c.1263C>A (p.Val421=)	Infantile neuroaxonal dystrophy [RCV003616616]	likely benign	22	38128354	38128354	Human	1	name
405118393	CV3008807	single nucleotide variant	NM_003560.4(PLA2G6):c.1038C>T (p.Arg346=)	Infantile neuroaxonal dystrophy [RCV003616720]	likely benign	22	38132870	38132870	Human	1	name
405118682	CV3015958	single nucleotide variant	NM_003560.4(PLA2G6):c.1059G>A (p.Pro353=)	Infantile neuroaxonal dystrophy [RCV003616756]\|not provided [RCV003885363]	likely benign	22	38132849	38132849	Human	1	name
405118824	CV3016300	single nucleotide variant	NM_003560.4(PLA2G6):c.2221C>A (p.Arg741=)	Infantile neuroaxonal dystrophy [RCV003616773]	likely benign	22	38112559	38112559	Human	1	name
405119008	CV3016646	single nucleotide variant	NM_003560.4(PLA2G6):c.1338A>G (p.Leu446=)	Infantile neuroaxonal dystrophy [RCV003616796]	likely benign	22	38128279	38128279	Human	1	name
405119502	CV3017954	single nucleotide variant	NM_003560.4(PLA2G6):c.1533G>A (p.Leu511=)	Infantile neuroaxonal dystrophy [RCV003616860]	likely benign	22	38123153	38123153	Human	1	name
405120516	CV3020895	single nucleotide variant	NM_003560.4(PLA2G6):c.2391G>A (p.Gln797=)	Infantile neuroaxonal dystrophy [RCV003616989]	likely benign	22	38112191	38112191	Human	1	name
405120455	CV3027534	single nucleotide variant	NM_003560.4(PLA2G6):c.1287G>C (p.Ala429=)	Infantile neuroaxonal dystrophy [RCV003616982]	likely benign	22	38128330	38128330	Human	1	name
405119536	CV3028474	single nucleotide variant	NM_003560.4(PLA2G6):c.1284A>C (p.Ala428=)	Infantile neuroaxonal dystrophy [RCV003616864]	likely benign	22	38128333	38128333	Human	1	name
405120291	CV3030643	single nucleotide variant	NM_003560.4(PLA2G6):c.1689C>T (p.Phe563=)	Infantile neuroaxonal dystrophy [RCV003616961]	likely benign	22	38120812	38120812	Human	1	name
405120663	CV3031829	single nucleotide variant	NM_003560.4(PLA2G6):c.1371C>T (p.Ile457=)	Infantile neuroaxonal dystrophy [RCV003617007]	likely benign	22	38126427	38126427	Human	1	name
405120636	CV3034624	single nucleotide variant	NM_003560.4(PLA2G6):c.1230G>A (p.Gly410=)	Infantile neuroaxonal dystrophy [RCV003617004]	likely benign	22	38128387	38128387	Human	1	name
405120898	CV3035378	single nucleotide variant	NM_003560.4(PLA2G6):c.1260G>T (p.Gly420=)	Infantile neuroaxonal dystrophy [RCV003617036]	likely benign	22	38128357	38128357	Human	1	name
405120714	CV3037573	single nucleotide variant	NM_003560.4(PLA2G6):c.1386G>A (p.Lys462=)	Infantile neuroaxonal dystrophy [RCV003617014]	likely benign	22	38126412	38126412	Human	1	name
405121154	CV3039098	single nucleotide variant	NM_003560.4(PLA2G6):c.1323C>A (p.Pro441=)	Infantile neuroaxonal dystrophy [RCV003617065]	likely benign	22	38128294	38128294	Human	1	name
405121022	CV3041312	single nucleotide variant	NM_003560.4(PLA2G6):c.1707G>A (p.Gly569=)	Infantile neuroaxonal dystrophy [RCV003617050]	likely benign	22	38120794	38120794	Human	1	name
405121401	CV3042844	single nucleotide variant	NM_003560.4(PLA2G6):c.1587G>A (p.Leu529=)	Infantile neuroaxonal dystrophy [RCV003617097]	likely benign	22	38123099	38123099	Human	1	name
405122217	CV3045177	single nucleotide variant	NM_003560.4(PLA2G6):c.1761A>G (p.Thr587=)	Infantile neuroaxonal dystrophy [RCV003617197]	likely benign	22	38116193	38116193	Human	1	name
405121577	CV3046343	single nucleotide variant	NM_003560.4(PLA2G6):c.1299C>T (p.Pro433=)	Infantile neuroaxonal dystrophy [RCV003617117]	likely benign	22	38128318	38128318	Human	1	name
405121725	CV3047014	single nucleotide variant	NM_003560.4(PLA2G6):c.1044G>A (p.Glu348=)	Infantile neuroaxonal dystrophy [RCV003617134]	likely benign	22	38132864	38132864	Human	1	name
405122542	CV3049608	single nucleotide variant	NM_003560.4(PLA2G6):c.1215G>A (p.Leu405=)	Infantile neuroaxonal dystrophy [RCV003617241]	likely benign	22	38128402	38128402	Human	1	name
405121926	CV3054599	single nucleotide variant	NM_003560.4(PLA2G6):c.1902C>T (p.Ala634=)	Infantile neuroaxonal dystrophy [RCV003617160]	likely benign	22	38115659	38115659	Human	1	name
405122059	CV3054795	single nucleotide variant	NM_003560.4(PLA2G6):c.2412C>T (p.Leu804=)	Infantile neuroaxonal dystrophy [RCV003617177]	likely benign	22	38112170	38112170	Human	1	name
405122672	CV3059847	single nucleotide variant	NM_003560.4(PLA2G6):c.2346C>T (p.Leu782=)	Infantile neuroaxonal dystrophy [RCV003617259]	likely benign	22	38112236	38112236	Human	1	name
405110718	CV3060959	single nucleotide variant	NM_003560.4(PLA2G6):c.1029G>T (p.Ala343=)	Infantile neuroaxonal dystrophy [RCV003615529]	likely benign	22	38132879	38132879	Human	1	name
405122764	CV3067364	single nucleotide variant	NM_003560.4(PLA2G6):c.1966C>T (p.Leu656=)	Infantile neuroaxonal dystrophy [RCV003617270]	likely benign	22	38115595	38115595	Human	1	name
405112343	CV3072118	single nucleotide variant	NM_003560.4(PLA2G6):c.1260G>C (p.Gly420=)	Infantile neuroaxonal dystrophy [RCV003615767]	likely benign	22	38128357	38128357	Human	1	name
405111365	CV3072948	duplication	NM_003560.4(PLA2G6):c.496dup (p.Glu166fs)	Infantile neuroaxonal dystrophy [RCV003615634]	pathogenic	22	38143217	38143218	Human	1	name
405112294	CV3074606	single nucleotide variant	NM_003560.4(PLA2G6):c.2217C>T (p.Asp739=)	Infantile neuroaxonal dystrophy [RCV003615759]	likely benign	22	38112563	38112563	Human	1	name
405112511	CV3075015	single nucleotide variant	NM_003560.4(PLA2G6):c.1926T>A (p.Thr642=)	Infantile neuroaxonal dystrophy [RCV003615797]	likely benign	22	38115635	38115635	Human	1	name
405112517	CV3075021	single nucleotide variant	NM_003560.4(PLA2G6):c.1158T>C (p.Pro386=)	Infantile neuroaxonal dystrophy [RCV003615798]	likely benign	22	38129482	38129482	Human	1	name
405112080	CV3076836	single nucleotide variant	NM_003560.4(PLA2G6):c.1848C>T (p.Asn616=)	Infantile neuroaxonal dystrophy [RCV003615724]	likely benign	22	38116106	38116106	Human	1	name
405112212	CV3077125	single nucleotide variant	NM_003560.4(PLA2G6):c.2298G>A (p.Thr766=)	Infantile neuroaxonal dystrophy [RCV003615745]	likely benign	22	38112284	38112284	Human	1	name
405112585	CV3077751	single nucleotide variant	NM_003560.4(PLA2G6):c.2295G>A (p.Gly765=)	Infantile neuroaxonal dystrophy [RCV003615810]	likely benign	22	38112287	38112287	Human	1	name
405111419	CV3078475	single nucleotide variant	NM_003560.4(PLA2G6):c.1728C>T (p.Asp576=)	Infantile neuroaxonal dystrophy [RCV003615642]	likely benign	22	38120773	38120773	Human	1	name
405112382	CV3080239	single nucleotide variant	NM_003560.4(PLA2G6):c.1062G>C (p.Leu354=)	Infantile neuroaxonal dystrophy [RCV003615774]	likely benign	22	38132846	38132846	Human	1	name
405148994	CV3123146	single nucleotide variant	NM_003560.4(PLA2G6):c.1098C>T (p.Ile366=)	Infantile neuroaxonal dystrophy [RCV003817379]	likely benign	22	38129542	38129542	Human	1	name
405146264	CV3126509	single nucleotide variant	NM_003560.4(PLA2G6):c.1572G>A (p.Leu524=)	Infantile neuroaxonal dystrophy [RCV003817236]	likely benign	22	38123114	38123114	Human	1	name
405112987	CV3133685	single nucleotide variant	NM_003560.4(PLA2G6):c.2259C>G (p.Val753=)	Infantile neuroaxonal dystrophy [RCV003836478]	likely benign	22	38112521	38112521	Human	1	name
405151581	CV3138242	single nucleotide variant	NM_003560.4(PLA2G6):c.2253G>A (p.Glu751=)	Infantile neuroaxonal dystrophy [RCV003840102]	likely benign	22	38112527	38112527	Human	1	name
405212481	CV3142674	single nucleotide variant	NM_003560.4(PLA2G6):c.1947C>T (p.Arg649=)	Infantile neuroaxonal dystrophy [RCV003846031]	likely benign	22	38115614	38115614	Human	1	name
405207652	CV3145589	single nucleotide variant	NM_003560.4(PLA2G6):c.1629C>T (p.Arg543=)	Infantile neuroaxonal dystrophy [RCV003845319]	likely benign	22	38120872	38120872	Human	1	name
405229994	CV3153802	single nucleotide variant	NM_003560.4(PLA2G6):c.1068G>A (p.Leu356=)	Infantile neuroaxonal dystrophy [RCV003848669]	likely benign	22	38132840	38132840	Human	1	name
405223761	CV3158469	single nucleotide variant	NM_003560.4(PLA2G6):c.1464G>A (p.Val488=)	Infantile neuroaxonal dystrophy [RCV003863965]	likely benign	22	38123222	38123222	Human	1	name
405180626	CV3159431	single nucleotide variant	NM_003560.4(PLA2G6):c.1389A>G (p.Pro463=)	Infantile neuroaxonal dystrophy [RCV003858681]	likely benign	22	38126409	38126409	Human	1	name
405182994	CV3159685	single nucleotide variant	NM_003560.4(PLA2G6):c.2089A>C (p.Arg697=)	Infantile neuroaxonal dystrophy [RCV003858936]	likely benign	22	38113600	38113600	Human	1	name
405165340	CV3160493	single nucleotide variant	NM_003560.4(PLA2G6):c.1968G>A (p.Leu656=)	Infantile neuroaxonal dystrophy [RCV003857373]	likely benign	22	38115593	38115593	Human	1	name
405244657	CV3161558	single nucleotide variant	NM_003560.4(PLA2G6):c.1017C>T (p.His339=)	Infantile neuroaxonal dystrophy [RCV003868271]	likely benign	22	38132891	38132891	Human	1	name
405235278	CV3166245	single nucleotide variant	NM_003560.4(PLA2G6):c.1329G>A (p.Pro443=)	Infantile neuroaxonal dystrophy [RCV003853694]	likely benign	22	38128288	38128288	Human	1	name
405238016	CV3166927	single nucleotide variant	NM_003560.4(PLA2G6):c.2154C>T (p.Ala718=)	Infantile neuroaxonal dystrophy [RCV003854182]	likely benign	22	38113535	38113535	Human	1	name
405193566	CV3167576	single nucleotide variant	NM_003560.4(PLA2G6):c.1677C>T (p.Pro559=)	Infantile neuroaxonal dystrophy [RCV003859982]	likely benign	22	38120824	38120824	Human	1	name
402487921	CV3181964	single nucleotide variant	NM_003560.4(PLA2G6):c.1431C>T (p.His477=)	Infantile neuroaxonal dystrophy [RCV003876633]	likely benign	22	38123255	38123255	Human	1	name
11617509	CV338122	single nucleotide variant	NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr)	Infantile neuroaxonal dystrophy [RCV001473715]\|Infantile neuroaxonal dystrophy [RCV005398468]\|PLA2G6-associated neurodegeneration [RCV000305035]\|not provided [RCV000487773]	likely benign\|uncertain significance	22	38145597	38145597	Human	1	name
11631894	CV347754	single nucleotide variant	NM_003560.4(PLA2G6):c.2259C>T (p.Val753=)	Inborn genetic diseases [RCV004021865]\|Infantile neuroaxonal dystrophy [RCV000392373]\|PLA2G6-associated neurodegeneration [RCV001094907]\|not provided [RCV003437087]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38112521	38112521	Human	2	name
11630908	CV347766	single nucleotide variant	NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu)	Infantile neuroaxonal dystrophy [RCV000765652]\|Infantile neuroaxonal dystrophy [RCV001303294]\|PLA2G6-associated neurodegeneration [RCV000362034]\|not provided [RCV000512651]\|not specified [RCV000518740]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38169326	38169326	Human	1	name
596926862	CV3539895	single nucleotide variant	NM_003560.4(PLA2G6):c.284A>G (p.Tyr95Cys)	not provided [RCV004790886]	uncertain significance	22	38145579	38145579	Human		name
12743142	CV361345	single nucleotide variant	NM_003560.4(PLA2G6):c.209G>A (p.Arg70Gln)	Infantile neuroaxonal dystrophy [RCV001865303]\|Infantile neuroaxonal dystrophy [RCV005398506]\|PLA2G6-associated neurodegeneration [RCV001144722]\|Spastic ataxia [RCV001643138]\|not provided [RCV000416070]	pathogenic\|uncertain significance	22	38169218	38169218	Human	3	name
597694926	CV3727207	deletion	NM_003560.4(PLA2G6):c.857del (p.Tyr286fs)	Infantile neuroaxonal dystrophy [RCV005032846]\|Infantile neuroaxonal dystrophy [RCV005112812]	pathogenic\|likely pathogenic	22	38135025	38135025	Human	1	name
597668816	CV3727208	duplication	NM_003560.4(PLA2G6):c.794dup (p.Cys267fs)	Infantile neuroaxonal dystrophy [RCV005029394]	likely pathogenic	22	38139984	38139985	Human	1	name
597881338	CV3744783	single nucleotide variant	NM_003560.4(PLA2G6):c.1263C>T (p.Val421=)	Infantile neuroaxonal dystrophy [RCV005069808]	likely benign	22	38128354	38128354	Human	1	name
597882101	CV3745006	single nucleotide variant	NM_003560.4(PLA2G6):c.1260G>A (p.Gly420=)	Infantile neuroaxonal dystrophy [RCV005070031]	likely benign	22	38128357	38128357	Human	1	name
597939550	CV3760534	single nucleotide variant	NM_003560.4(PLA2G6):c.2115T>C (p.Cys705=)	Infantile neuroaxonal dystrophy [RCV005077261]	likely benign	22	38113574	38113574	Human	1	name
597847682	CV3775498	single nucleotide variant	NM_003560.4(PLA2G6):c.2358G>A (p.Glu786=)	Infantile neuroaxonal dystrophy [RCV005123228]	likely benign	22	38112224	38112224	Human	1	name
597849262	CV3784322	single nucleotide variant	NM_003560.4(PLA2G6):c.1953G>C (p.Leu651=)	Infantile neuroaxonal dystrophy [RCV005124610]	likely benign	22	38115608	38115608	Human	1	name
597859030	CV3785250	single nucleotide variant	NM_003560.4(PLA2G6):c.2085A>G (p.Thr695=)	Infantile neuroaxonal dystrophy [RCV005133355]	likely benign	22	38113604	38113604	Human	1	name
597877385	CV3796400	single nucleotide variant	NM_003560.4(PLA2G6):c.1080A>G (p.Lys360=)	Infantile neuroaxonal dystrophy [RCV005152483]	likely benign	22	38129560	38129560	Human	1	name
597889736	CV3823760	single nucleotide variant	NM_003560.4(PLA2G6):c.2082G>T (p.Gly694=)	Infantile neuroaxonal dystrophy [RCV005165180]	likely benign	22	38113607	38113607	Human	1	name
597904377	CV3838965	single nucleotide variant	NM_003560.4(PLA2G6):c.1134C>G (p.Thr378=)	Infantile neuroaxonal dystrophy [RCV005179050]	likely benign	22	38129506	38129506	Human	1	name
597911548	CV3845359	duplication	NM_003560.4(PLA2G6):c.319dup (p.Leu107fs)	Infantile neuroaxonal dystrophy [RCV005186672]	pathogenic	22	38145543	38145544	Human	1	name
597912943	CV3847169	single nucleotide variant	NM_003560.4(PLA2G6):c.1488C>T (p.Leu496=)	Infantile neuroaxonal dystrophy [RCV005188089]	likely benign	22	38123198	38123198	Human	1	name
597922781	CV3849399	single nucleotide variant	NM_003560.4(PLA2G6):c.1821T>C (p.Thr607=)	Infantile neuroaxonal dystrophy [RCV005197580]	likely benign	22	38116133	38116133	Human	1	name
598123257	CV3890265	single nucleotide variant	NM_003560.4(PLA2G6):c.119A>G (p.Glu40Gly)	not provided [RCV005250784]	uncertain significance	22	38169308	38169308	Human		name
8568302	CV39325	single nucleotide variant	NM_003560.4(PLA2G6):c.216C>A (p.Phe72Leu)	Autosomal recessive Parkinson disease 14 [RCV000023316]	pathogenic	22	38145647	38145647	Human	1	name
8568304	CV39327	single nucleotide variant	NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)	Infantile neuroaxonal dystrophy [RCV000023318]\|Infantile neuroaxonal dystrophy [RCV005031452]\|Iron accumulation in brain [RCV000147282]\|Neurodegeneration with brain iron accumulation 2B [RCV003105777]\|PLA2G6-associated neurodegeneration [RCV002513187]\|not provid ... (more) ed [RCV000255026]	pathogenic	22	38169318	38169318	Human	4	name
598262581	CV4000284	single nucleotide variant	NM_003560.4(PLA2G6):c.191A>G (p.Asn64Ser)	Inborn genetic diseases [RCV005387118]	likely benign	22	38169236	38169236	Human	1	name
13499250	CV471124	single nucleotide variant	NM_003560.4(PLA2G6):c.115C>T (p.Arg39Trp)	Infantile neuroaxonal dystrophy [RCV000532210]	uncertain significance	22	38169312	38169312	Human	1	name
13611140	CV514783	single nucleotide variant	NM_003560.4(PLA2G6):c.217C>T (p.Gln73Ter)	Infantile neuroaxonal dystrophy [RCV003507307]\|not provided [RCV000627321]	pathogenic\|likely pathogenic	22	38145646	38145646	Human	1	name
13618421	CV534799	single nucleotide variant	NM_003560.4(PLA2G6):c.1494C>T (p.Ile498=)	Inborn genetic diseases [RCV004957923]\|Infantile neuroaxonal dystrophy [RCV000634965]	likely benign	22	38123192	38123192	Human	2	name
15104428	CV689290	single nucleotide variant	NM_003560.4(PLA2G6):c.187A>G (p.Arg63Gly)	Infantile neuroaxonal dystrophy [RCV000870868]\|not provided [RCV001672972]	benign\|likely benign	22	38169240	38169240	Human	1	name
15136126	CV694738	single nucleotide variant	NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=)	Infantile neuroaxonal dystrophy [RCV002064865]\|PLA2G6-associated neurodegeneration [RCV001150737]\|not provided [RCV000876770]	likely benign\|uncertain significance	22	38115578	38115578	Human	1	name
15152522	CV705930	single nucleotide variant	NM_003560.4(PLA2G6):c.1116C>T (p.Phe372=)	Infantile neuroaxonal dystrophy [RCV002066237]\|not provided [RCV000945899]	likely benign	22	38129524	38129524	Human	1	name
15131672	CV717446	single nucleotide variant	NM_003560.4(PLA2G6):c.1224C>T (p.Thr408=)	Infantile neuroaxonal dystrophy [RCV001464868]	likely benign	22	38128393	38128393	Human	1	name
15186596	CV729183	single nucleotide variant	NM_003560.4(PLA2G6):c.1710G>A (p.Glu570=)	Infantile neuroaxonal dystrophy [RCV003615862]	likely benign	22	38120791	38120791	Human	1	name
15166486	CV742902	single nucleotide variant	NM_003560.4(PLA2G6):c.1701G>A (p.Glu567=)	Infantile neuroaxonal dystrophy [RCV003507324]	likely benign	22	38120800	38120800	Human	1	name
15169779	CV742903	single nucleotide variant	NM_003560.4(PLA2G6):c.1026C>T (p.Asn342=)	Infantile neuroaxonal dystrophy [RCV003507325]	likely benign	22	38132882	38132882	Human	1	name
15198470	CV758087	single nucleotide variant	NM_003560.4(PLA2G6):c.1374A>C (p.Ser458=)	not provided [RCV000912268]	likely benign	22	38126424	38126424	Human		name
15131901	CV773550	single nucleotide variant	NM_003560.4(PLA2G6):c.2025G>C (p.Leu675=)	Infantile neuroaxonal dystrophy [RCV000942307]	likely benign	22	38115536	38115536	Human	1	name
15131500	CV786601	single nucleotide variant	NM_003560.4(PLA2G6):c.1899G>T (p.Ala633=)	Infantile neuroaxonal dystrophy [RCV000981223]	likely benign	22	38115662	38115662	Human	1	name
15105297	CV786602	single nucleotide variant	NM_003560.4(PLA2G6):c.1575C>G (p.Ala525=)	Infantile neuroaxonal dystrophy [RCV001485278]	likely benign	22	38123111	38123111	Human	1	name
21073305	CV792069	single nucleotide variant	NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter)	Infantile neuroaxonal dystrophy [RCV000990445]	pathogenic	22	38169263	38169263	Human	1	name
28896504	CV860731	single nucleotide variant	NM_003560.4(PLA2G6):c.266C>T (p.Ser89Phe)	Infantile neuroaxonal dystrophy [RCV002557965]\|not provided [RCV001092851]	uncertain significance	22	38145597	38145597	Human	1	name
28885056	CV891301	single nucleotide variant	NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=)	Infantile neuroaxonal dystrophy [RCV003507354]\|PLA2G6-associated neurodegeneration [RCV001150736]	likely benign\|uncertain significance	22	38115533	38115533	Human	1	name
28885063	CV891302	single nucleotide variant	NM_003560.4(PLA2G6):c.1977C>T (p.Asn659=)	PLA2G6-associated neurodegeneration [RCV001150738]	uncertain significance	22	38115584	38115584	Human	1	name
28904799	CV891303	single nucleotide variant	NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=)	Infantile neuroaxonal dystrophy [RCV002070743]\|PLA2G6-associated neurodegeneration [RCV001144628]\|not provided [RCV001171726]	likely benign\|uncertain significance	22	38120887	38120887	Human	1	name
28905030	CV891307	single nucleotide variant	NM_003560.4(PLA2G6):c.155A>G (p.Asn52Ser)	Infantile neuroaxonal dystrophy [RCV002032366]\|PLA2G6-associated neurodegeneration [RCV001144723]	uncertain significance	22	38169272	38169272	Human	1	name
8637643	CV92869	single nucleotide variant	NM_003560.2(PLA2G6):c.2127C>T (p.Phe709=)	Malignant melanoma [RCV000072967]	not provided	22	38113562	38113562	Human		name
40886412	CV972802	deletion	NM_003560.4(PLA2G6):c.319del (p.Leu107fs)	Infantile neuroaxonal dystrophy [RCV005038021]\|Neurodegeneration with brain iron accumulation 2B [RCV001264800]\|PLA2G6-associated neurodegeneration [RCV002537674]\|not provided [RCV002224044]	pathogenic\|likely pathogenic	22	38145544	38145544	Human	2	name
126766133	CV1035198	single nucleotide variant	NM_003560.4(PLA2G6):c.344G>A (p.Arg115His)	Inborn genetic diseases [RCV004656537]\|Infantile neuroaxonal dystrophy [RCV001342303]\|not provided [RCV003326564]	uncertain significance	22	38145519	38145519	Human	2	name
126911987	CV1038840	single nucleotide variant	NM_003560.4(PLA2G6):c.533A>G (p.Gln178Arg)	Infantile neuroaxonal dystrophy [RCV001469742]\|not provided [RCV001355997]	likely benign\|uncertain significance	22	38143181	38143181	Human	1	name
126908211	CV1038841	single nucleotide variant	NM_003560.4(PLA2G6):c.395G>A (p.Arg132His)	Inborn genetic diseases [RCV002547694]\|Infantile neuroaxonal dystrophy [RCV001361193]\|Infantile neuroaxonal dystrophy [RCV002476641]\|not provided [RCV001358442]	uncertain significance	22	38145468	38145468	Human	2	name
126908219	CV1052145	single nucleotide variant	NM_003560.4(PLA2G6):c.455G>T (p.Gly152Val)	Infantile neuroaxonal dystrophy [RCV001362646]	uncertain significance	22	38143259	38143259	Human	1	name
150337226	CV1166398	single nucleotide variant	NM_003560.4(PLA2G6):c.464C>T (p.Pro155Leu)	not provided [RCV001532472]	uncertain significance	22	38143250	38143250	Human		name
150415546	CV1192394	deletion	NM_003560.4(PLA2G6):c.1951del (p.Leu651fs)	not provided [RCV001568031]	likely pathogenic	22	38115610	38115610	Human		name
150419649	CV1199369	single nucleotide variant	NM_003560.4(PLA2G6):c.625G>A (p.Ala209Thr)	Infantile neuroaxonal dystrophy [RCV001866071]\|not provided [RCV001577270]	uncertain significance	22	38140154	38140154	Human	1	name
150442230	CV1204673	single nucleotide variant	NM_003560.4(PLA2G6):c.481C>T (p.Arg161Cys)	Infantile neuroaxonal dystrophy [RCV001866173]\|Infantile neuroaxonal dystrophy [RCV002495942]\|PLA2G6-associated neurodegeneration [RCV005412269]\|not provided [RCV001583780]	uncertain significance	22	38143233	38143233	Human	1	name
150479400	CV1207830	single nucleotide variant	NM_003560.4(PLA2G6):c.848A>G (p.Asp283Gly)	Infantile neuroaxonal dystrophy [RCV001866213]\|PLA2G6-associated neurodegeneration [RCV002579477]\|not provided [RCV001590106]	likely pathogenic\|uncertain significance	22	38135034	38135034	Human	1	name
151727862	CV1242023	deletion	NM_003560.4(PLA2G6):c.1125del (p.Val376fs)	Neurodegeneration with brain iron accumulation 2B [RCV001844389]	pathogenic	22	38129515	38129515	Human	1	name
150515572	CV1285586	deletion	NM_003560.4(PLA2G6):c.1591+131_1591+140del	not provided [RCV001723039]	benign	22	38122955	38122964	Human		name
150551521	CV1297413	single nucleotide variant	NM_003560.4(PLA2G6):c.990C>A (p.Phe330Leu)	not provided [RCV001767095]	uncertain significance	22	38132918	38132918	Human		name
150553508	CV1303512	single nucleotide variant	NM_003560.4(PLA2G6):c.797G>C (p.Gly266Ala)	Autosomal recessive Parkinson disease 14 [RCV002295348]\|not provided [RCV001769202]	pathogenic\|uncertain significance	22	38139982	38139982	Human	1	name
150546454	CV1313750	single nucleotide variant	NM_003560.4(PLA2G6):c.671T>C (p.Leu224Pro)	not provided [RCV001784848]\|not specified [RCV002271672]	pathogenic\|uncertain significance	22	38140108	38140108	Human		name
150543342	CV1315190	deletion	NM_003560.4(PLA2G6):c.2077del (p.Leu693fs)	not provided [RCV001782647]	likely pathogenic	22	38113612	38113612	Human		name
151234706	CV1320427	single nucleotide variant	NM_003560.4(PLA2G6):c.977T>C (p.Met326Thr)	Infantile neuroaxonal dystrophy [RCV002544373]\|not provided [RCV001800051]	uncertain significance	22	38132931	38132931	Human	1	name
151351298	CV1321775	single nucleotide variant	NM_003560.4(PLA2G6):c.336C>A (p.Asp112Glu)	not provided [RCV001806268]	uncertain significance	22	38145527	38145527	Human		name
151811160	CV1350415	single nucleotide variant	NM_003560.4(PLA2G6):c.788C>G (p.Ser263Cys)	Inborn genetic diseases [RCV004044804]\|Infantile neuroaxonal dystrophy [RCV002048867]	uncertain significance	22	38139991	38139991	Human	2	name
151854562	CV1372670	single nucleotide variant	NM_003560.4(PLA2G6):c.971C>T (p.Ala324Val)	Infantile neuroaxonal dystrophy [RCV001996375]	uncertain significance	22	38132937	38132937	Human	1	name
151851199	CV1378101	single nucleotide variant	NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val)	Infantile neuroaxonal dystrophy [RCV002016608]\|Neurodegeneration with brain iron accumulation [RCV003402056]\|PLA2G6-associated neurodegeneration [RCV002545570]	likely pathogenic\|uncertain significance	22	38140099	38140099	Human	2	name
151749237	CV1380871	single nucleotide variant	NM_003560.4(PLA2G6):c.916C>T (p.Arg306Trp)	Infantile neuroaxonal dystrophy [RCV002023201]	uncertain significance	22	38132992	38132992	Human	1	name
151736322	CV1387742	single nucleotide variant	NM_003560.4(PLA2G6):c.415C>T (p.Arg139Cys)	Infantile neuroaxonal dystrophy [RCV002005341]	uncertain significance	22	38145448	38145448	Human	1	name
151854073	CV1390732	single nucleotide variant	NM_003560.4(PLA2G6):c.490G>C (p.Asp164His)	Infantile neuroaxonal dystrophy [RCV001958375]	uncertain significance	22	38143224	38143224	Human	1	name
151800979	CV1414009	single nucleotide variant	NM_003560.4(PLA2G6):c.412A>G (p.Ser138Gly)	Infantile neuroaxonal dystrophy [RCV002047975]	uncertain significance	22	38145451	38145451	Human	1	name
151749402	CV1430327	single nucleotide variant	NM_003560.4(PLA2G6):c.440C>T (p.Ala147Val)	Infantile neuroaxonal dystrophy [RCV002006705]	uncertain significance	22	38143274	38143274	Human	1	name
151774781	CV1440752	single nucleotide variant	NM_003560.4(PLA2G6):c.868C>T (p.Pro290Ser)	Infantile neuroaxonal dystrophy [RCV001896690]	uncertain significance	22	38135014	38135014	Human	1	name
151833151	CV1447975	single nucleotide variant	NM_003560.4(PLA2G6):c.712G>A (p.Val238Met)	Inborn genetic diseases [RCV002557649]\|Infantile neuroaxonal dystrophy [RCV001920686]	uncertain significance	22	38140067	38140067	Human	2	name
151814455	CV1452808	single nucleotide variant	NM_003560.4(PLA2G6):c.524G>A (p.Cys175Tyr)	Infantile neuroaxonal dystrophy [RCV001900272]	uncertain significance	22	38143190	38143190	Human	1	name
151724713	CV1455519	single nucleotide variant	NM_003560.4(PLA2G6):c.826A>C (p.Ser276Arg)	Infantile neuroaxonal dystrophy [RCV002020635]	uncertain significance	22	38135056	38135056	Human	1	name
151862145	CV1457932	single nucleotide variant	NM_003560.4(PLA2G6):c.758G>T (p.Gly253Val)	Infantile neuroaxonal dystrophy [RCV001938687]	uncertain significance	22	38140021	38140021	Human	1	name
151782558	CV1469070	single nucleotide variant	NM_003560.4(PLA2G6):c.353C>T (p.Pro118Leu)	Infantile neuroaxonal dystrophy [RCV002026398]\|not provided [RCV004793704]\|not specified [RCV004587291]	likely pathogenic\|uncertain significance	22	38145510	38145510	Human	1	name
151808031	CV1474730	single nucleotide variant	NM_003560.4(PLA2G6):c.927C>G (p.Asn309Lys)	Infantile neuroaxonal dystrophy [RCV001932923]\|not provided [RCV002290800]	uncertain significance	22	38132981	38132981	Human	1	name
151723888	CV1500360	single nucleotide variant	NM_003560.4(PLA2G6):c.394C>T (p.Arg132Cys)	Infantile neuroaxonal dystrophy [RCV001910098]	uncertain significance	22	38145469	38145469	Human	1	name
151795160	CV1506334	single nucleotide variant	NM_003560.4(PLA2G6):c.482G>A (p.Arg161His)	Infantile neuroaxonal dystrophy [RCV001917188]	uncertain significance	22	38143232	38143232	Human	1	name
151825151	CV1507078	single nucleotide variant	NM_003560.4(PLA2G6):c.868C>G (p.Pro290Ala)	Infantile neuroaxonal dystrophy [RCV001955145]	uncertain significance	22	38135014	38135014	Human	1	name
151716676	CV1513113	single nucleotide variant	NM_003560.4(PLA2G6):c.854G>A (p.Arg285His)	Inborn genetic diseases [RCV003164287]\|Infantile neuroaxonal dystrophy [RCV001890439]\|Infantile neuroaxonal dystrophy [RCV002482647]\|not provided [RCV002300613]	uncertain significance	22	38135028	38135028	Human	2	name
152102498	CV1667271	single nucleotide variant	NM_003560.4(PLA2G6):c.707T>G (p.Val236Gly)	not provided [RCV002214257]	uncertain significance	22	38140072	38140072	Human		name
153302190	CV1689488	single nucleotide variant	NM_003560.4(PLA2G6):c.635G>A (p.Gly212Asp)	not provided [RCV002267439]	uncertain significance	22	38140144	38140144	Human		name
153349155	CV1693830	single nucleotide variant	NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)	Infantile neuroaxonal dystrophy [RCV003096213]\|Neurodegeneration with brain iron accumulation 2B [RCV003339949]\|Neurodegeneration with brain iron accumulation [RCV003403769]\|PLA2G6-associated neurodegeneration [RCV003096214]\|not provided [RCV002275547]	likely pathogenic\|uncertain significance	22	38140111	38140111	Human	3	name
9683649	CV169785	deletion	NM_003560.4(PLA2G6):c.1674del (p.Leu560fs)	Infantile neuroaxonal dystrophy [RCV002505128]\|Iron accumulation in brain [RCV000147297]\|PLA2G6-associated neurodegeneration [RCV002514835]	pathogenic\|likely pathogenic	22	38120827	38120827	Human	3	name
9683641	CV169793	deletion	NM_003560.4(PLA2G6):c.1509del (p.Ser504fs)	Iron accumulation in brain [RCV000147289]	pathogenic	22	38123177	38123177	Human	2	name
9683692	CV169803	single nucleotide variant	NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg)	Iron accumulation in brain [RCV000147341]\|not specified [RCV004700469]	likely pathogenic\|uncertain significance	22	38132914	38132914	Human	2	name
9683691	CV169804	single nucleotide variant	NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)	Infantile neuroaxonal dystrophy [RCV000995606]\|Iron accumulation in brain [RCV000147340]\|PLA2G6-associated neurodegeneration [RCV002514840]\|not provided [RCV000997929]	pathogenic\|likely pathogenic\|uncertain significance	22	38132922	38132922	Human	3	name
9683687	CV169807	single nucleotide variant	NM_003560.4(PLA2G6):c.821T>G (p.Met274Arg)	Iron accumulation in brain [RCV000147336]	pathogenic	22	38135061	38135061	Human	2	name
9683682	CV169811	single nucleotide variant	NM_003560.4(PLA2G6):c.673C>T (p.His225Tyr)	Infantile neuroaxonal dystrophy [RCV001382688]\|Iron accumulation in brain [RCV000147331]\|not provided [RCV000484666]	pathogenic\|likely pathogenic	22	38140106	38140106	Human	3	name
9683681	CV169812	single nucleotide variant	NM_003560.4(PLA2G6):c.658G>C (p.Gly220Arg)	Iron accumulation in brain [RCV000147330]	uncertain significance	22	38140121	38140121	Human	2	name
9683680	CV169813	single nucleotide variant	NM_003560.4(PLA2G6):c.517C>T (p.Gln173Ter)	Iron accumulation in brain [RCV000147329]	pathogenic	22	38143197	38143197	Human	2	name
9683677	CV169815	single nucleotide variant	NM_003560.4(PLA2G6):c.478T>C (p.Cys160Arg)	Iron accumulation in brain [RCV000147326]	likely pathogenic	22	38143236	38143236	Human	2	name
9683675	CV169816	single nucleotide variant	NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro)	Inborn genetic diseases [RCV000623680]\|Infantile neuroaxonal dystrophy [RCV001270755]\|Infantile neuroaxonal dystrophy [RCV005031653]\|Iron accumulation in brain [RCV000147324]\|Neurodegeneration with brain iron accumulation [RCV004700468]\|PLA2G6-associated neurode ... (more) generation [RCV002515981]\|not provided [RCV000414098]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	38145477	38145477	Human	4	name
155267380	CV1699586	deletion	NM_003560.4(PLA2G6):c.1294del (p.His432fs)	Inborn genetic diseases [RCV004047570]\|Infantile neuroaxonal dystrophy [RCV003507404]\|Neurodegeneration with brain iron accumulation [RCV002283379]	pathogenic\|likely pathogenic\|uncertain significance	22	38128323	38128323	Human	3	name
155642232	CV1707288	single nucleotide variant	NM_003560.4(PLA2G6):c.710G>A (p.Arg237His)	Inborn genetic diseases [RCV003097758]\|Infantile neuroaxonal dystrophy [RCV003097757]\|not provided [RCV002288218]	likely benign\|uncertain significance	22	38140069	38140069	Human	2	name
155716132	CV1760497	deletion	NM_003560.4(PLA2G6):c.1648del (p.Arg550fs)	not provided [RCV002301005]	pathogenic	22	38120853	38120853	Human		name
9850323	CV181466	deletion	NM_003560.4(PLA2G6):c.1911del (p.Ser637fs)	Neurodegeneration with brain iron accumulation [RCV000162123]	likely pathogenic	22	38115650	38115650	Human	1	name
155798525	CV1860692	single nucleotide variant	NM_003560.4(PLA2G6):c.557G>A (p.Gly186Glu)	not provided [RCV002467335]	uncertain significance	22	38143157	38143157	Human		name
155798965	CV1862254	single nucleotide variant	NM_003560.4(PLA2G6):c.562A>G (p.Thr188Ala)	Infantile neuroaxonal dystrophy [RCV004594647]	uncertain significance	22	38143152	38143152	Human	1	name
156320455	CV1873025	single nucleotide variant	NM_003560.4(PLA2G6):c.853C>T (p.Arg285Cys)	Infantile neuroaxonal dystrophy [RCV003063026]	uncertain significance	22	38135029	38135029	Human	1	name
156294312	CV1892242	single nucleotide variant	NM_003560.4(PLA2G6):c.479G>C (p.Cys160Ser)	Infantile neuroaxonal dystrophy [RCV003061592]	uncertain significance	22	38143235	38143235	Human	1	name
156376239	CV1917649	single nucleotide variant	NM_003560.4(PLA2G6):c.647T>G (p.Val216Gly)	Infantile neuroaxonal dystrophy [RCV002603605]	uncertain significance	22	38140132	38140132	Human	1	name
156419247	CV1923073	single nucleotide variant	NM_003560.4(PLA2G6):c.407A>G (p.His136Arg)	Infantile neuroaxonal dystrophy [RCV002612468]	uncertain significance	22	38145456	38145456	Human	1	name
156045956	CV1927103	single nucleotide variant	NM_003560.4(PLA2G6):c.796G>A (p.Gly266Arg)	Infantile neuroaxonal dystrophy [RCV002637758]	uncertain significance	22	38139983	38139983	Human	1	name
156216814	CV1927769	single nucleotide variant	NM_003560.4(PLA2G6):c.534G>C (p.Gln178His)	Infantile neuroaxonal dystrophy [RCV002644231]	uncertain significance	22	38143180	38143180	Human	1	name
156445327	CV1945335	single nucleotide variant	NM_003560.4(PLA2G6):c.746T>C (p.Met249Thr)	Infantile neuroaxonal dystrophy [RCV003116268]	uncertain significance	22	38140033	38140033	Human	1	name
156404140	CV1986124	single nucleotide variant	NM_003560.4(PLA2G6):c.428G>A (p.Cys143Tyr)	Infantile neuroaxonal dystrophy [RCV002657981]	uncertain significance	22	38143286	38143286	Human	1	name
156280635	CV2011705	single nucleotide variant	NM_003560.4(PLA2G6):c.917G>A (p.Arg306Gln)	Inborn genetic diseases [RCV004652019]\|Infantile neuroaxonal dystrophy [RCV002715287]	uncertain significance	22	38132991	38132991	Human	2	name
156190508	CV2016980	single nucleotide variant	NM_003560.4(PLA2G6):c.431C>G (p.Ala144Gly)	Infantile neuroaxonal dystrophy [RCV002711071]	uncertain significance	22	38143283	38143283	Human	1	name
156214659	CV2019045	single nucleotide variant	NM_003560.4(PLA2G6):c.311C>A (p.Thr104Asn)	Infantile neuroaxonal dystrophy [RCV002700764]	uncertain significance	22	38145552	38145552	Human	1	name
156152082	CV2023094	single nucleotide variant	NM_003560.4(PLA2G6):c.733C>G (p.Arg245Gly)	Infantile neuroaxonal dystrophy [RCV002741256]	uncertain significance	22	38140046	38140046	Human	1	name
156222922	CV2037779	single nucleotide variant	NM_003560.4(PLA2G6):c.809T>C (p.Met270Thr)	Infantile neuroaxonal dystrophy [RCV002790696]	uncertain significance	22	38135073	38135073	Human	1	name
156111161	CV2058255	single nucleotide variant	NM_003560.4(PLA2G6):c.471C>G (p.His157Gln)	Infantile neuroaxonal dystrophy [RCV002824929]	uncertain significance	22	38143243	38143243	Human	1	name
155970695	CV2062450	single nucleotide variant	NM_003560.4(PLA2G6):c.895A>G (p.Met299Val)	Infantile neuroaxonal dystrophy [RCV002842063]	uncertain significance	22	38133013	38133013	Human	1	name
155943068	CV2068407	single nucleotide variant	NM_003560.4(PLA2G6):c.953A>G (p.Asn318Ser)	Infantile neuroaxonal dystrophy [RCV002839539]	uncertain significance	22	38132955	38132955	Human	1	name
156302872	CV2105056	single nucleotide variant	NM_003560.4(PLA2G6):c.979C>T (p.Arg327Cys)	Infantile neuroaxonal dystrophy [RCV002922666]	uncertain significance	22	38132929	38132929	Human	1	name
156100653	CV2107358	single nucleotide variant	NM_003560.4(PLA2G6):c.901C>G (p.Arg301Gly)	Infantile neuroaxonal dystrophy [RCV002927039]	uncertain significance	22	38133007	38133007	Human	1	name
156239015	CV2115787	single nucleotide variant	NM_003560.4(PLA2G6):c.733C>T (p.Arg245Trp)	Infantile neuroaxonal dystrophy [RCV002919227]	uncertain significance	22	38140046	38140046	Human	1	name
8559169	CV21236	single nucleotide variant	NM_003560.4(PLA2G6):c.929T>A (p.Val310Glu)	Infantile neuroaxonal dystrophy [RCV000006574]\|PLA2G6-associated neurodegeneration [RCV002512835]	pathogenic\|uncertain significance	22	38132979	38132979	Human	1	name
156321300	CV2123811	single nucleotide variant	NM_003560.4(PLA2G6):c.397G>A (p.Glu133Lys)	Infantile neuroaxonal dystrophy [RCV002963218]	uncertain significance	22	38145466	38145466	Human	1	name
155959362	CV2138219	single nucleotide variant	NM_003560.4(PLA2G6):c.565G>A (p.Val189Ile)	Infantile neuroaxonal dystrophy [RCV002972305]	uncertain significance	22	38143149	38143149	Human	1	name
155982979	CV2163227	single nucleotide variant	NM_003560.4(PLA2G6):c.880G>C (p.Ala294Pro)	Infantile neuroaxonal dystrophy [RCV003033967]	uncertain significance	22	38135002	38135002	Human	1	name
156362628	CV2180562	deletion	NM_003560.4(PLA2G6):c.1460del (p.Gly487fs)	Infantile neuroaxonal dystrophy [RCV003049131]	pathogenic	22	38123226	38123226	Human	1	name
156275534	CV2202760	single nucleotide variant	NM_003560.4(PLA2G6):c.869C>T (p.Pro290Leu)	Inborn genetic diseases [RCV002669821]	uncertain significance	22	38135013	38135013	Human	1	name
156151906	CV2307592	single nucleotide variant	NM_003560.4(PLA2G6):c.751C>A (p.Pro251Thr)	Inborn genetic diseases [RCV002915432]\|not provided [RCV005412498]	uncertain significance	22	38140028	38140028	Human	1	name
11350858	CV236944	single nucleotide variant	NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)	Infantile neuroaxonal dystrophy [RCV000765650]\|Infantile neuroaxonal dystrophy [RCV002057229]\|PLA2G6-associated neurodegeneration [RCV000345705]\|not provided [RCV000224530]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38133010	38133010	Human	1	name
156203829	CV2401384	single nucleotide variant	NM_003560.4(PLA2G6):c.719T>C (p.Leu240Pro)	PLA2G6-associated neurodegeneration [RCV002789944]	uncertain significance	22	38140060	38140060	Human	1	name
156205641	CV2401507	deletion	NM_003560.4(PLA2G6):c.2128del (p.Arg710fs)	PLA2G6-associated neurodegeneration [RCV002790038]	uncertain significance	22	38113561	38113561	Human	1	name
243062674	CV2405092	single nucleotide variant	NM_003560.4(PLA2G6):c.434A>G (p.Asn145Ser)	Infantile neuroaxonal dystrophy [RCV003140642]	uncertain significance	22	38143280	38143280	Human	1	name
243063882	CV2405408	single nucleotide variant	NM_003560.4(PLA2G6):c.911T>C (p.Leu304Pro)	Infantile neuroaxonal dystrophy [RCV003142487]	uncertain significance	22	38132997	38132997	Human	1	name
243055382	CV2406227	single nucleotide variant	NM_003560.4(PLA2G6):c.665C>T (p.Thr222Ile)	not provided [RCV003131983]	uncertain significance	22	38140114	38140114	Human		name
329847688	CV2524436	deletion	NM_003560.4(PLA2G6):c.1915del (p.Ala639fs)	PLA2G6-associated neurodegeneration [RCV004798978]\|not provided [RCV003227328]	pathogenic	22	38115646	38115646	Human	1	name
401738985	CV2738448	single nucleotide variant	NM_003560.4(PLA2G6):c.692G>T (p.Gly231Val)	not specified [RCV003317840]	uncertain significance	22	38140087	38140087	Human		name
401867321	CV2748873	single nucleotide variant	NM_003560.4(PLA2G6):c.920G>A (p.Gly307Asp)	not specified [RCV003331695]	uncertain significance	22	38132988	38132988	Human		name
401870141	CV2749319	single nucleotide variant	NM_003560.4(PLA2G6):c.967G>A (p.Val323Met)	Infantile neuroaxonal dystrophy [RCV003444385]\|not provided [RCV003332447]	likely pathogenic\|uncertain significance	22	38132941	38132941	Human	1	name
401858143	CV2750574	single nucleotide variant	NM_003560.4(PLA2G6):c.379G>A (p.Val127Met)	not provided [RCV003334247]	uncertain significance	22	38145484	38145484	Human		name
401856220	CV2752382	single nucleotide variant	NM_003560.4(PLA2G6):c.790C>T (p.Gln264Ter)	Neurodegeneration with brain iron accumulation 2B [RCV003340719]	likely pathogenic	22	38139989	38139989	Human	1	name
401919637	CV2794915	single nucleotide variant	NM_003560.4(PLA2G6):c.370C>T (p.His124Tyr)	Neurodegeneration with brain iron accumulation 2B [RCV003388661]	uncertain significance	22	38145493	38145493	Human	1	name
401919862	CV2794968	deletion	NM_003560.4(PLA2G6):c.1816del (p.Glu606fs)	Infantile neuroaxonal dystrophy [RCV003388714]	likely pathogenic	22	38116138	38116138	Human	1	name
402495888	CV2878745	duplication	NM_003560.4(PLA2G6):c.1833dup (p.Arg612fs)	Infantile neuroaxonal dystrophy [RCV003508201]	pathogenic	22	38116120	38116121	Human	1	name
402502416	CV2901741	duplication	NM_003560.4(PLA2G6):c.1524dup (p.Lys509fs)	Infantile neuroaxonal dystrophy [RCV003508882]	pathogenic	22	38123161	38123162	Human	1	name
402484923	CV2904008	duplication	NM_003560.4(PLA2G6):c.1670dup (p.Pro559fs)	Infantile neuroaxonal dystrophy [RCV003506880]	pathogenic	22	38120830	38120831	Human	1	name
402493611	CV2927098	deletion	NM_003560.4(PLA2G6):c.1233del (p.Glu412fs)	Infantile neuroaxonal dystrophy [RCV003507914]	pathogenic	22	38128384	38128384	Human	1	name
405118439	CV3005362	deletion	NM_003560.4(PLA2G6):c.1798del (p.Arg600fs)	Infantile neuroaxonal dystrophy [RCV003616725]	pathogenic	22	38116156	38116156	Human	1	name
405121586	CV3043179	single nucleotide variant	NM_003560.4(PLA2G6):c.954C>G (p.Asn318Lys)	Infantile neuroaxonal dystrophy [RCV003617118]	uncertain significance	22	38132954	38132954	Human	1	name
405101479	CV3144330	single nucleotide variant	NM_003560.4(PLA2G6):c.552C>G (p.Tyr184Ter)	Infantile neuroaxonal dystrophy [RCV003852783]	pathogenic	22	38143162	38143162	Human	1	name
405265050	CV3185460	single nucleotide variant	NM_003560.4(PLA2G6):c.736T>C (p.Cys246Arg)	not provided [RCV003886024]	uncertain significance	22	38140043	38140043	Human		name
405656730	CV3376087	deletion	NM_003560.4(PLA2G6):c.2166del (p.Phe722fs)	Inborn genetic diseases [RCV004511558]	pathogenic	22	38113523	38113523	Human	1	name
405656737	CV3376089	single nucleotide variant	NM_003560.4(PLA2G6):c.896T>C (p.Met299Thr)	Inborn genetic diseases [RCV004511560]	uncertain significance	22	38133012	38133012	Human	1	name
405854229	CV3392918	single nucleotide variant	NM_003560.4(PLA2G6):c.905T>G (p.Met302Arg)	Infantile neuroaxonal dystrophy [RCV005412663]\|not specified [RCV004527075]	uncertain significance	22	38133003	38133003	Human	1	name
11631930	CV347759	single nucleotide variant	NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr)	Infantile neuroaxonal dystrophy [RCV001861203]\|Infantile neuroaxonal dystrophy [RCV002488734]\|not provided [RCV000992630]\|not specified [RCV001584047]	uncertain significance	22	38143275	38143275	Human	1	name
11628897	CV351608	single nucleotide variant	NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu)	Infantile neuroaxonal dystrophy [RCV001244972]\|PLA2G6-associated neurodegeneration [RCV000310784]\|not provided [RCV001584046]	likely benign\|uncertain significance	22	38140006	38140006	Human	1	name
408388942	CV3522830	single nucleotide variant	NM_003560.4(PLA2G6):c.983A>G (p.Asn328Ser)	not provided [RCV004769211]	uncertain significance	22	38132925	38132925	Human		name
11627995	CV352557	single nucleotide variant	NM_003560.4(PLA2G6):c.995G>C (p.Cys332Ser)	Infantile neuroaxonal dystrophy [RCV001861202]\|PLA2G6-associated neurodegeneration [RCV000293529]\|not provided [RCV001778934]	uncertain significance	22	38132913	38132913	Human	1	name
596921419	CV3535065	single nucleotide variant	NM_003560.4(PLA2G6):c.403T>G (p.Phe135Val)	not provided [RCV004784624]	uncertain significance	22	38145460	38145460	Human		name
596927151	CV3536497	single nucleotide variant	NM_003560.4(PLA2G6):c.710G>C (p.Arg237Pro)	Infantile neuroaxonal dystrophy [RCV004789905]	uncertain significance	22	38140069	38140069	Human	1	name
596926858	CV3539894	single nucleotide variant	NM_003560.4(PLA2G6):c.944C>T (p.Ser315Phe)	not provided [RCV004790885]	uncertain significance	22	38132964	38132964	Human		name
597668778	CV3727201	deletion	NM_003560.4(PLA2G6):c.2287del (p.Gln763fs)	Infantile neuroaxonal dystrophy [RCV005029388]\|Infantile neuroaxonal dystrophy [RCV005112811]	pathogenic\|likely pathogenic	22	38112295	38112295	Human	1	name
597668798	CV3727204	deletion	NM_003560.4(PLA2G6):c.2058del (p.Lys686fs)	Infantile neuroaxonal dystrophy [RCV005029390]	likely pathogenic	22	38113631	38113631	Human	1	name
597694914	CV3727206	single nucleotide variant	NM_003560.4(PLA2G6):c.985C>T (p.Arg329Cys)	Infantile neuroaxonal dystrophy [RCV005032845]	likely pathogenic	22	38132923	38132923	Human	1	name
12849221	CV378796	single nucleotide variant	NM_003560.4(PLA2G6):c.404T>C (p.Phe135Ser)	not provided [RCV000426257]	likely pathogenic	22	38145459	38145459	Human		name
598122143	CV3884221	single nucleotide variant	NM_003560.4(PLA2G6):c.505G>A (p.Val169Met)	not specified [RCV005236911]	uncertain significance	22	38143209	38143209	Human		name
598126132	CV3886091	single nucleotide variant	NM_003560.4(PLA2G6):c.562A>C (p.Thr188Pro)	not provided [RCV005241894]	uncertain significance	22	38143152	38143152	Human		name
8568305	CV39328	single nucleotide variant	NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr)	Autosomal recessive Parkinson disease 14 [RCV000023319]\|Infantile neuroaxonal dystrophy [RCV001852019]\|Infantile neuroaxonal dystrophy [RCV005025079]\|PLA2G6-associated neurodegeneration [RCV002513188]\|not provided [RCV000498427]	pathogenic	22	38132917	38132917	Human	2	name
598262582	CV4000285	single nucleotide variant	NM_003560.4(PLA2G6):c.665C>A (p.Thr222Asn)	Inborn genetic diseases [RCV005387119]	uncertain significance	22	38140114	38140114	Human	1	name
598210265	CV4007988	single nucleotide variant	NM_003560.4(PLA2G6):c.871C>G (p.Leu291Val)	Infantile neuroaxonal dystrophy [RCV005400302]	uncertain significance	22	38135011	38135011	Human	1	name
616933847	CV4011816	single nucleotide variant	NM_003560.4(PLA2G6):c.691G>C (p.Gly231Arg)	not specified [RCV005408365]	uncertain significance	22	38140088	38140088	Human		name
12894769	CV411015	single nucleotide variant	NM_003560.4(PLA2G6):c.470A>C (p.His157Pro)	not provided [RCV000484058]	likely pathogenic\|uncertain significance	22	38143244	38143244	Human		name
12906470	CV415714	single nucleotide variant	NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)	Infantile neuroaxonal dystrophy [RCV000765651]\|Infantile neuroaxonal dystrophy [RCV001083799]\|PLA2G6-associated neurodegeneration [RCV001150840]\|PLA2G6-related disorder [RCV003925420]\|not provided [RCV000585504]\|not specifie ... (more) d [RCV004999527]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38145447	38145447	Human	3	name , alternate_id
13212117	CV426377	single nucleotide variant	NM_003560.4(PLA2G6):c.298C>T (p.Gln100Ter)	PLA2G6-associated neurodegeneration [RCV002527150]\|not provided [RCV000498365]	likely pathogenic	22	38145565	38145565	Human	1	name
13527935	CV513385	single nucleotide variant	NM_003560.4(PLA2G6):c.834G>C (p.Gln278His)	Infantile neuroaxonal dystrophy [RCV000625817]\|not specified [RCV004800498]	pathogenic\|likely pathogenic\|uncertain significance	22	38135048	38135048	Human	1	name
13592724	CV513670	single nucleotide variant	NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn)	Infantile neuroaxonal dystrophy [RCV000626136]\|PLA2G6-associated neurodegeneration [RCV001146572]\|not provided [RCV000762072]\|not specified [RCV003155254]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	38132917	38132917	Human	1	name
13704155	CV538500	single nucleotide variant	NM_003560.4(PLA2G6):c.355A>C (p.Ser119Arg)	Infantile neuroaxonal dystrophy [RCV000660375]	uncertain significance	22	38145508	38145508	Human	1	name
13814884	CV571997	deletion	NM_003560.4(PLA2G6):c.1931del (p.Phe644fs)	Infantile neuroaxonal dystrophy [RCV000691192]	pathogenic	22	38115630	38115630	Human	1	name
13810942	CV577909	single nucleotide variant	NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)	Infantile neuroaxonal dystrophy [RCV001085110]\|Infantile neuroaxonal dystrophy [RCV002245623]\|PLA2G6-associated neurodegeneration [RCV001150842]\|not provided [RCV000712686]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	38145538	38145538	Human	1	name
14396972	CV613193	single nucleotide variant	NM_003560.4(PLA2G6):c.803C>T (p.Ala268Val)	Inborn genetic diseases [RCV003279045]\|Infantile neuroaxonal dystrophy [RCV001221675]\|not provided [RCV000762073]	uncertain significance	22	38135079	38135079	Human	2	name
14695797	CV622483	single nucleotide variant	NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro)	Infantile neuroaxonal dystrophy [RCV000784958]	likely pathogenic	22	38132946	38132946	Human	1	name
14708024	CV649499	deletion	NM_003560.4(PLA2G6):c.1262del (p.Val421fs)	Infantile neuroaxonal dystrophy [RCV000808605]\|Neurodegeneration with brain iron accumulation [RCV004768671]	pathogenic	22	38128355	38128355	Human	2	name
14740691	CV649500	single nucleotide variant	NM_003560.4(PLA2G6):c.812T>C (p.Ile271Thr)	Infantile neuroaxonal dystrophy [RCV000821906]	uncertain significance	22	38135070	38135070	Human	1	name
14978085	CV677271	single nucleotide variant	NM_003560.4(PLA2G6):c.641A>G (p.Asn214Ser)	Iron accumulation in brain [RCV000850305]	uncertain significance	22	38140138	38140138	Human	2	name
15173930	CV789132	single nucleotide variant	NM_003560.4(PLA2G6):c.380T>C (p.Val127Ala)	Infantile neuroaxonal dystrophy [RCV000984517]	uncertain significance	22	38145483	38145483	Human	1	name
21067410	CV793864	single nucleotide variant	NM_003560.4(PLA2G6):c.343C>T (p.Arg115Cys)	Infantile neuroaxonal dystrophy [RCV002549801]\|not provided [RCV000992629]\|not specified [RCV002265920]	uncertain significance	22	38145520	38145520	Human	1	name
21068350	CV798105	single nucleotide variant	NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys)	Infantile neuroaxonal dystrophy [RCV001858869]\|Infantile neuroaxonal dystrophy [RCV002481790]\|not provided [RCV000997930]	uncertain significance	22	38133007	38133007	Human	1	name
21074831	CV798770	single nucleotide variant	NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser)	Infantile neuroaxonal dystrophy [RCV000995607]\|PLA2G6-associated neurodegeneration [RCV002550682]\|not specified [RCV004702563]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	38140022	38140022	Human	1	name
26921657	CV849345	single nucleotide variant	NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)	Autosomal recessive Parkinson disease 14 [RCV001542714]\|Infantile neuroaxonal dystrophy [RCV001050461]\|Infantile neuroaxonal dystrophy [RCV005036337]\|Neurodegeneration with brain iron accumulation 2B [RCV004768816]\|Neurodegeneration with brain iron accumulation [RCV005418966]\|PLA2G6 ... (more) t:700;'>PLA2G6-associated neurodegeneration [RCV001147487]\|not provided [RCV001585947]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	38132952	38132952	Human	4	name
26890826	CV849346	single nucleotide variant	NM_003560.4(PLA2G6):c.547G>A (p.Asp183Asn)	Infantile neuroaxonal dystrophy [RCV001059763]\|not provided [RCV001568029]	uncertain significance	22	38143167	38143167	Human	1	name
28885358	CV891305	single nucleotide variant	NM_003560.4(PLA2G6):c.776C>A (p.Ala259Asp)	PLA2G6-associated neurodegeneration [RCV001150838]	uncertain significance	22	38140003	38140003	Human	1	name
28885363	CV891306	single nucleotide variant	NM_003560.4(PLA2G6):c.448G>A (p.Glu150Lys)	Infantile neuroaxonal dystrophy [RCV001325562]\|PLA2G6-associated neurodegeneration [RCV001150839]\|not provided [RCV001760107]	uncertain significance	22	38143266	38143266	Human	1	name
38466879	CV939317	single nucleotide variant	NM_003560.4(PLA2G6):c.554A>G (p.Lys185Arg)	Inborn genetic diseases [RCV004960552]\|Infantile neuroaxonal dystrophy [RCV001212850]	uncertain significance	22	38143160	38143160	Human	2	name
40889827	CV975578	single nucleotide variant	NM_003560.4(PLA2G6):c.643C>T (p.Gln215Ter)	not provided [RCV001268305]	pathogenic	22	38140136	38140136	Human		name
151845902	CV1353565	single nucleotide variant	NM_003560.4(PLA2G6):c.1514G>A (p.Gly505Asp)	Infantile neuroaxonal dystrophy [RCV001957324]	uncertain significance	22	38123172	38123172	Human	1	name
151852724	CV1357314	single nucleotide variant	NM_003560.4(PLA2G6):c.1382G>A (p.Arg461Gln)	Infantile neuroaxonal dystrophy [RCV001904310]	uncertain significance	22	38126416	38126416	Human	1	name
151862895	CV1368197	single nucleotide variant	NM_003560.4(PLA2G6):c.1390G>C (p.Ala464Pro)	Infantile neuroaxonal dystrophy [RCV001905526]	uncertain significance	22	38126408	38126408	Human	1	name
151858473	CV1406366	single nucleotide variant	NM_003560.4(PLA2G6):c.2341G>A (p.Ala781Thr)	Infantile neuroaxonal dystrophy [RCV001958907]\|Infantile neuroaxonal dystrophy [RCV005032024]\|PLA2G6-associated neurodegeneration [RCV002569151]	pathogenic\|likely pathogenic\|uncertain significance	22	38112241	38112241	Human	1	name
151881845	CV1413904	single nucleotide variant	NM_003560.4(PLA2G6):c.1360C>G (p.Leu454Val)	Infantile neuroaxonal dystrophy [RCV002020297]	uncertain significance	22	38126438	38126438	Human	1	name
151869606	CV1443992	single nucleotide variant	NM_003560.4(PLA2G6):c.1708G>A (p.Glu570Lys)	Infantile neuroaxonal dystrophy [RCV001925030]	uncertain significance	22	38120793	38120793	Human	1	name
151850317	CV1450240	single nucleotide variant	NM_003560.4(PLA2G6):c.1225G>A (p.Val409Met)	Inborn genetic diseases [RCV004041681]\|Infantile neuroaxonal dystrophy [RCV001922689]	uncertain significance	22	38128392	38128392	Human	2	name
151849156	CV1453100	single nucleotide variant	NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile)	Inborn genetic diseases [RCV002545323]\|Infantile neuroaxonal dystrophy [RCV002032930]\|Infantile neuroaxonal dystrophy [RCV002482409]\|not provided [RCV002265035]	likely benign\|uncertain significance	22	38116105	38116105	Human	2	name
151878190	CV1475934	single nucleotide variant	NM_003560.4(PLA2G6):c.1709A>G (p.Glu570Gly)	Infantile neuroaxonal dystrophy [RCV002019800]	uncertain significance	22	38120792	38120792	Human	1	name
151876252	CV1483425	single nucleotide variant	NM_003560.4(PLA2G6):c.1620G>A (p.Met540Ile)	Infantile neuroaxonal dystrophy [RCV001907099]	uncertain significance	22	38120881	38120881	Human	1	name
152120434	CV1593813	single nucleotide variant	NM_003560.4(PLA2G6):c.1328C>T (p.Pro443Leu)	Infantile neuroaxonal dystrophy [RCV002098072]\|not provided [RCV003481260]	likely benign\|uncertain significance	22	38128289	38128289	Human	1	name
152035185	CV1670104	single nucleotide variant	NM_003560.4(PLA2G6):c.1036C>T (p.Arg346Cys)	Infantile neuroaxonal dystrophy [RCV003089193]\|not provided [RCV002223638]	uncertain significance	22	38132872	38132872	Human	1	name
152982494	CV1677426	single nucleotide variant	NM_003560.4(PLA2G6):c.1085A>T (p.Asn362Ile)	Infantile neuroaxonal dystrophy [RCV002249135]	likely pathogenic	22	38129555	38129555	Human	1	name
152983259	CV1678086	single nucleotide variant	NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu)	Infantile neuroaxonal dystrophy [RCV002250242]	pathogenic\|conflicting interpretations of pathogenicity	22	38115529	38115529	Human	1	name
152983260	CV1678087	single nucleotide variant	NM_003560.4(PLA2G6):c.1969G>A (p.Ala657Thr)	Infantile neuroaxonal dystrophy [RCV002250243]	pathogenic	22	38115592	38115592	Human	1	name
152983262	CV1678089	single nucleotide variant	NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr)	Infantile neuroaxonal dystrophy [RCV002250245]\|Neurodegeneration with brain iron accumulation 2B [RCV004594627]	pathogenic\|likely pathogenic	22	38132839	38132839	Human	2	name
152999100	CV1679539	single nucleotide variant	NM_003560.4(PLA2G6):c.1556G>C (p.Ser519Thr)	Infantile neuroaxonal dystrophy [RCV002250928]\|not provided [RCV003319509]	uncertain significance	22	38123130	38123130	Human	1	name
153000904	CV1683930	single nucleotide variant	NM_003560.4(PLA2G6):c.1586T>C (p.Leu529Pro)	Infantile neuroaxonal dystrophy [RCV002254539]	uncertain significance	22	38123100	38123100	Human	1	name
153303404	CV1686212	single nucleotide variant	NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln)	Infantile neuroaxonal dystrophy [RCV002502073]\|not provided [RCV002261645]	uncertain significance	22	38120852	38120852	Human	1	name
9683674	CV169761	single nucleotide variant	NM_003560.4(PLA2G6):c.2396T>A (p.Leu799His)	Iron accumulation in brain [RCV000147323]	likely pathogenic	22	38112186	38112186	Human	2	name
9683670	CV169765	single nucleotide variant	NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser)	Infantile neuroaxonal dystrophy [RCV001849997]\|Iron accumulation in brain [RCV000147318]\|PLA2G6-associated neurodegeneration [RCV005411351]\|not provided [RCV000489829]\|not specified [RCV004689625]	likely pathogenic\|uncertain significance	22	38112534	38112534	Human	3	name
9683669	CV169766	single nucleotide variant	NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)	Infantile neuroaxonal dystrophy [RCV003507259]\|Infantile neuroaxonal dystrophy [RCV003883135]\|Iron accumulation in brain [RCV000147317]\|Neurodegeneration with brain iron accumulation 2B [RCV000985141]	pathogenic\|likely pathogenic	22	38112547	38112547	Human	4	name
9683668	CV169767	single nucleotide variant	NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)	Inborn genetic diseases [RCV002515980]\|Infantile neuroaxonal dystrophy [RCV000793778]\|Infantile neuroaxonal dystrophy [RCV005031652]\|Iron accumulation in brain [RCV000147316]\|PLA2G6-associated neurodegeneration [RCV000778662]\|not provided [RCV000254887]	pathogenic\|likely pathogenic\|uncertain significance	22	38112565	38112565	Human	4	name
9683666	CV169769	single nucleotide variant	NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)	Infantile neuroaxonal dystrophy [RCV000537119]\|Iron accumulation in brain [RCV000147314]\|PLA2G6-associated neurodegeneration [RCV002515979]	pathogenic\|likely pathogenic\|uncertain significance	22	38113561	38113561	Human	3	name
9683665	CV169770	single nucleotide variant	NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)	Infantile neuroaxonal dystrophy [RCV003507258]\|Infantile neuroaxonal dystrophy [RCV005031651]\|Iron accumulation in brain [RCV000147313]\|PLA2G6-associated neurodegeneration [RCV002515978]\|not provided [RCV001781485]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	22	38113591	38113591	Human	3	name
9683664	CV169772	single nucleotide variant	NM_003560.4(PLA2G6):c.2071G>A (p.Val691Ile)	Iron accumulation in brain [RCV000147312]	uncertain significance	22	38113618	38113618	Human	2	name
9683661	CV169774	single nucleotide variant	NM_003560.4(PLA2G6):c.2068G>A (p.Val690Ile)	Infantile neuroaxonal dystrophy [RCV000821691]\|Iron accumulation in brain [RCV000147309]\|PLA2G6-associated neurodegeneration [RCV001149230]\|not provided [RCV000512748]	uncertain significance	22	38113621	38113621	Human	3	name
9683660	CV169775	single nucleotide variant	NM_003560.4(PLA2G6):c.2066T>G (p.Ile689Ser)	Iron accumulation in brain [RCV000147308]	uncertain significance	22	38113623	38113623	Human	2	name
9683659	CV169776	single nucleotide variant	NM_003560.4(PLA2G6):c.2030G>T (p.Arg677Leu)	Infantile neuroaxonal dystrophy [RCV001849996]\|Iron accumulation in brain [RCV000147307]\|PLA2G6-associated neurodegeneration [RCV001150735]	uncertain significance	22	38115531	38115531	Human	3	name
9683658	CV169777	single nucleotide variant	NM_003560.4(PLA2G6):c.1978C>T (p.Pro660Ser)	Infantile neuroaxonal dystrophy [RCV001849995]\|Iron accumulation in brain [RCV000147306]\|not provided [RCV001657842]	likely pathogenic\|uncertain significance	22	38115583	38115583	Human	3	name
9683657	CV169778	single nucleotide variant	NM_003560.4(PLA2G6):c.1973A>C (p.Asn658Thr)	Iron accumulation in brain [RCV000147305]	likely pathogenic	22	38115588	38115588	Human	2	name
9683656	CV169779	single nucleotide variant	NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)	Infantile neuroaxonal dystrophy [RCV000680170]\|Infantile neuroaxonal dystrophy [RCV005025226]\|Iron accumulation in brain [RCV000147304]\|PLA2G6-associated neurodegeneration [RCV000600346]\|not provided [RCV000313731]	pathogenic	22	38115658	38115658	Human	3	name
9683655	CV169780	single nucleotide variant	NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)	Inborn genetic diseases [RCV000624119]\|Infantile neuroaxonal dystrophy [RCV001849994]\|Infantile neuroaxonal dystrophy [RCV002505129]\|Infantile osteopetrosis with neuroaxonal dysplasia [RCV003338422]\|Iron accumulation in brain [RCV000147303]\|Neurodegeneration with brain iron accumulation 2B [RCV00057 ... (more) 8256]\|Neurodegeneration with brain iron accumulation [RCV003226213]\|PLA2G6-associated neurodegeneration [RCV002514837]\|PLA2G6-related disorder [RCV003927441]\|not provided [RCV000413569]	pathogenic\|likely pathogenic	22	38116155	38116155	Human	6	name , alternate_id
9683654	CV169781	single nucleotide variant	NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile)	Infantile neuroaxonal dystrophy [RCV005089714]\|Iron accumulation in brain [RCV000147302]\|not specified [RCV004700467]	pathogenic\|likely pathogenic\|uncertain significance	22	38116200	38116200	Human	3	name
9683650	CV169784	single nucleotide variant	NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys)	Iron accumulation in brain [RCV000147298]\|PLA2G6-associated neurodegeneration [RCV002514836]\|not provided [RCV002253241]	pathogenic\|uncertain significance	22	38120802	38120802	Human	3	name
9683648	CV169786	single nucleotide variant	NM_003560.4(PLA2G6):c.1634A>G (p.Lys545Arg)	Infantile neuroaxonal dystrophy [RCV003507257]\|Iron accumulation in brain [RCV000147296]\|Neurodegeneration with brain iron accumulation [RCV003330510]\|PLA2G6-associated neurodegeneration [RCV002514834]	pathogenic\|likely pathogenic	22	38120867	38120867	Human	3	name
9683647	CV169787	single nucleotide variant	NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)	Infantile neuroaxonal dystrophy [RCV000765649]\|Infantile neuroaxonal dystrophy [RCV000811515]\|Iron accumulation in brain [RCV000147295]\|PLA2G6-associated neurodegeneration [RCV001144627]\|not provided [RCV001288670]	likely benign\|uncertain significance	22	38120886	38120886	Human	3	name
9683646	CV169788	single nucleotide variant	NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)	Infantile neuroaxonal dystrophy [RCV001849993]\|Iron accumulation in brain [RCV000147294]\|Neurodegeneration with brain iron accumulation 2B [RCV001823117]\|PLA2G6-associated neurodegeneration [RCV002514833]\|not provided [RCV000412963]	pathogenic\|likely pathogenic	22	38120888	38120888	Human	4	name
9683645	CV169789	single nucleotide variant	NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys)	Infantile neuroaxonal dystrophy [RCV002515977]\|Iron accumulation in brain [RCV000147293]\|PLA2G6-associated neurodegeneration [RCV002515976]\|not provided [RCV004700466]	pathogenic\|likely pathogenic\|uncertain significance	22	38120889	38120889	Human	3	name
9683642	CV169792	single nucleotide variant	NM_003560.4(PLA2G6):c.1573G>A (p.Ala525Thr)	Iron accumulation in brain [RCV000147290]\|not provided [RCV003229811]	uncertain significance	22	38123113	38123113	Human	2	name
9683640	CV169794	single nucleotide variant	NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)	Infantile neuroaxonal dystrophy [RCV000679861]\|Infantile neuroaxonal dystrophy [RCV005025225]\|Iron accumulation in brain [RCV000147288]\|not specified [RCV002469025]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	38123185	38123185	Human	3	name
9683639	CV169795	single nucleotide variant	NM_003560.4(PLA2G6):c.1489C>T (p.Leu497Phe)	Iron accumulation in brain [RCV000147287]\|PLA2G6-associated neurodegeneration [RCV002514832]	likely pathogenic\|uncertain significance	22	38123197	38123197	Human	3	name
9683638	CV169796	single nucleotide variant	NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)	Infantile neuroaxonal dystrophy [RCV002051814]\|Iron accumulation in brain [RCV000147286]\|Neurodegeneration with brain iron accumulation 2B [RCV000995605]\|PLA2G6-associated neurodegeneration [RCV002514831]	pathogenic\|likely pathogenic	22	38123244	38123244	Human	4	name
9683635	CV169799	single nucleotide variant	NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg)	Inborn genetic diseases [RCV001266410]\|Infantile neuroaxonal dystrophy [RCV000199765]\|Infantile neuroaxonal dystrophy [RCV005025224]\|Iron accumulation in brain [RCV000147283]	pathogenic\|likely pathogenic	22	38129523	38129523	Human	4	name
9683633	CV169801	single nucleotide variant	NM_003560.4(PLA2G6):c.1058C>T (p.Pro353Leu)	Infantile neuroaxonal dystrophy [RCV001364740]\|Infantile neuroaxonal dystrophy [RCV004796044]\|Iron accumulation in brain [RCV000147280]\|PLA2G6-associated neurodegeneration [RCV002515975]\|not provided [RCV004546439]\|not specified [RCV005237579]	likely pathogenic\|uncertain significance	22	38132850	38132850	Human	3	name
9683632	CV169802	single nucleotide variant	NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)	Infantile neuroaxonal dystrophy [RCV000385486]\|PLA2G6-associated neurodegeneration [RCV001094820]\|PLA2G6-related disorder [RCV003975164]\|not provided [RCV001579750]\|not specified [RCV000147279]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	38132881	38132881	Human	1	name , alternate_id
156183304	CV1868602	single nucleotide variant	NM_003560.4(PLA2G6):c.2251G>A (p.Glu751Lys)	Infantile neuroaxonal dystrophy [RCV003050582]\|Neurodegeneration with brain iron accumulation [RCV003324065]\|PLA2G6-associated neurodegeneration [RCV003041414]\|not provided [RCV003223766]	pathogenic\|likely pathogenic\|uncertain significance	22	38112529	38112529	Human	2	name
156348484	CV1868604	single nucleotide variant	NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)	Infantile neuroaxonal dystrophy [RCV003064658]\|PLA2G6-associated neurodegeneration [RCV003064657]\|not specified [RCV003226564]	likely pathogenic\|uncertain significance	22	38123139	38123139	Human	1	name
156410019	CV1891922	single nucleotide variant	NM_003560.4(PLA2G6):c.1028C>T (p.Ala343Val)	Infantile neuroaxonal dystrophy [RCV003071903]	uncertain significance	22	38132880	38132880	Human	1	name
156307883	CV1895035	single nucleotide variant	NM_003560.4(PLA2G6):c.1247C>T (p.Pro416Leu)	Infantile neuroaxonal dystrophy [RCV003088271]	uncertain significance	22	38128370	38128370	Human	1	name
156312031	CV1896313	single nucleotide variant	NM_003560.4(PLA2G6):c.1974C>G (p.Asn658Lys)	Infantile neuroaxonal dystrophy [RCV003088506]	pathogenic	22	38115587	38115587	Human	1	name
156314215	CV1907047	single nucleotide variant	NM_003560.4(PLA2G6):c.2326A>G (p.Thr776Ala)	Infantile neuroaxonal dystrophy [RCV003088624]	uncertain significance	22	38112256	38112256	Human	1	name
156138968	CV1911291	single nucleotide variant	NM_003560.4(PLA2G6):c.1747A>T (p.Met583Leu)	Infantile neuroaxonal dystrophy [RCV002623585]	uncertain significance	22	38116207	38116207	Human	1	name
156308867	CV1912810	single nucleotide variant	NM_003560.4(PLA2G6):c.2358G>T (p.Glu786Asp)	Infantile neuroaxonal dystrophy [RCV002599537]	uncertain significance	22	38112224	38112224	Human	1	name
156354530	CV1933302	single nucleotide variant	NM_003560.4(PLA2G6):c.1670C>T (p.Ser557Leu)	Infantile neuroaxonal dystrophy [RCV002651165]\|PLA2G6-associated neurodegeneration [RCV002651164]	pathogenic\|likely pathogenic	22	38120831	38120831	Human	1	name
156442380	CV1938606	single nucleotide variant	NM_003560.4(PLA2G6):c.2101G>A (p.Val701Met)	Infantile neuroaxonal dystrophy [RCV003112721]\|not provided [RCV004790479]	uncertain significance	22	38113588	38113588	Human	1	name
156443928	CV1941278	single nucleotide variant	NM_003560.4(PLA2G6):c.1422G>T (p.Lys474Asn)	Infantile neuroaxonal dystrophy [RCV003114840]	uncertain significance	22	38126376	38126376	Human	1	name
156082958	CV1956285	single nucleotide variant	NM_003560.4(PLA2G6):c.1696C>G (p.Arg566Gly)	Infantile neuroaxonal dystrophy [RCV002569969]	uncertain significance	22	38120805	38120805	Human	1	name
156326031	CV1972708	single nucleotide variant	NM_003560.4(PLA2G6):c.1076C>T (p.Ser359Leu)	Infantile neuroaxonal dystrophy [RCV002600531]	uncertain significance	22	38132832	38132832	Human	1	name
156414475	CV1986676	single nucleotide variant	NM_003560.4(PLA2G6):c.1895G>A (p.Arg632Gln)	Infantile neuroaxonal dystrophy [RCV002609218]	uncertain significance	22	38115666	38115666	Human	1	name
156216904	CV2028705	single nucleotide variant	NM_003560.4(PLA2G6):c.2306T>C (p.Met769Thr)	Infantile neuroaxonal dystrophy [RCV002711988]	uncertain significance	22	38112276	38112276	Human	1	name
156370365	CV2031047	single nucleotide variant	NM_003560.4(PLA2G6):c.1205T>C (p.Ile402Thr)	Infantile neuroaxonal dystrophy [RCV002721470]	uncertain significance	22	38128412	38128412	Human	1	name
156380688	CV2060772	single nucleotide variant	NM_003560.4(PLA2G6):c.1523C>T (p.Thr508Ile)	Infantile neuroaxonal dystrophy [RCV002815065]	uncertain significance	22	38123163	38123163	Human	1	name
156326029	CV2068582	single nucleotide variant	NM_003560.4(PLA2G6):c.1630A>T (p.Met544Leu)	Infantile neuroaxonal dystrophy [RCV002835019]	likely pathogenic	22	38120871	38120871	Human	1	name
156035334	CV2097695	single nucleotide variant	NM_003560.4(PLA2G6):c.2091G>C (p.Arg697Ser)	Infantile neuroaxonal dystrophy [RCV002885580]	uncertain significance	22	38113598	38113598	Human	1	name
156216521	CV2107080	single nucleotide variant	NM_003560.4(PLA2G6):c.1628G>A (p.Arg543His)	Infantile neuroaxonal dystrophy [RCV002918386]\|not provided [RCV004790273]	uncertain significance	22	38120873	38120873	Human	1	name
156309144	CV2109404	single nucleotide variant	NM_003560.4(PLA2G6):c.1400T>C (p.Leu467Pro)	Inborn genetic diseases [RCV004958850]\|Infantile neuroaxonal dystrophy [RCV002922973]	uncertain significance	22	38126398	38126398	Human	2	name
156123323	CV2112204	single nucleotide variant	NM_003560.4(PLA2G6):c.1168G>A (p.Ala390Thr)	Infantile neuroaxonal dystrophy [RCV002927907]	uncertain significance	22	38129472	38129472	Human	1	name
156328702	CV2116276	single nucleotide variant	NM_003560.4(PLA2G6):c.1834C>T (p.Arg612Cys)	Inborn genetic diseases [RCV004661504]\|Infantile neuroaxonal dystrophy [RCV002938240]\|Infantile neuroaxonal dystrophy [RCV005399022]	uncertain significance	22	38116120	38116120	Human	2	name
8559167	CV21234	single nucleotide variant	NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)	Abnormality of the nervous system [RCV001813959]\|Autism [RCV001250474]\|Inborn genetic diseases [RCV000623021]\|Infantile neuroaxonal dystrophy [RCV000006572]\|Infantile neuroaxonal dystrophy [RCV000763481]\|Iron accumulation in brain [RCV000147321]\|Neurodegeneration with brain iron accumulation 2B [RCV ... (more) 001333134]\|Neurodegeneration with brain iron accumulation [RCV002265549]\|PLA2G6-associated neurodegeneration [RCV000778661]\|PLA2G6-related disorder [RCV003407288]\|not provided [RCV000323935]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance\|no classifications from unflagged records	22	38112212	38112212	Human	12	name , alternate_id
8559168	CV21235	single nucleotide variant	NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)	Autosomal recessive Parkinson disease 14 [RCV001542712]\|Congenital cerebellar hypoplasia [RCV001003639]\|Neurodegeneration with brain iron accumulation 2B [RCV000006573]\|not provided [RCV003319301]	pathogenic\|likely pathogenic	22	38120867	38120867	Human	8	name
8559171	CV21238	single nucleotide variant	NM_003560.4(PLA2G6):c.1894C>T (p.Arg632Trp)	Infantile neuroaxonal dystrophy [RCV003507245]\|Infantile neuroaxonal dystrophy [RCV005031400]\|Karak syndrome [RCV000006576]\|Neurodegeneration with brain iron accumulation [RCV001582469]\|PLA2G6-associated neurodegeneration [RCV002512836]\|not provided [RCV00109201 ... (more) 1]	pathogenic\|likely pathogenic	22	38115667	38115667	Human	3	name
8559174	CV21242	single nucleotide variant	NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)	Autosomal recessive Parkinson disease 14 [RCV000006581]\|Infantile neuroaxonal dystrophy [RCV000811054]\|Infantile neuroaxonal dystrophy [RCV002496284]\|Neurodegeneration with brain iron accumulation 2B [RCV001251187]\|Neurodegeneration with brain iron accumulation [RCV003155018]\|not provided [RCV001588 ... (more) 801]	pathogenic\|likely pathogenic	22	38112558	38112558	Human	4	name
8559175	CV21243	single nucleotide variant	NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)	Autosomal recessive Parkinson disease 14 [RCV000006582]\|Infantile neuroaxonal dystrophy [RCV000763482]\|Infantile neuroaxonal dystrophy [RCV003507246]\|PLA2G6-associated neurodegeneration [RCV002512840]\|not provided [RCV001268312]	pathogenic\|likely pathogenic	22	38112541	38112541	Human	2	name
156030039	CV2125432	single nucleotide variant	NM_003560.4(PLA2G6):c.1027G>C (p.Ala343Pro)	Infantile neuroaxonal dystrophy [RCV002949187]	uncertain significance	22	38132881	38132881	Human	1	name
156372626	CV2127656	single nucleotide variant	NM_003560.4(PLA2G6):c.1417G>C (p.Glu473Gln)	Infantile neuroaxonal dystrophy [RCV002942457]	uncertain significance	22	38126381	38126381	Human	1	name
156320651	CV2170347	single nucleotide variant	NM_003560.4(PLA2G6):c.1133C>A (p.Thr378Asn)	Infantile neuroaxonal dystrophy [RCV003029136]	uncertain significance	22	38129507	38129507	Human	1	name
156363611	CV2170692	single nucleotide variant	NM_003560.4(PLA2G6):c.1265C>T (p.Pro422Leu)	Infantile neuroaxonal dystrophy [RCV003031735]	uncertain significance	22	38128352	38128352	Human	1	name
156359256	CV2183982	single nucleotide variant	NM_003560.4(PLA2G6):c.1642G>A (p.Val548Met)	Infantile neuroaxonal dystrophy [RCV003048904]	uncertain significance	22	38120859	38120859	Human	1	name
156378811	CV2189362	single nucleotide variant	NM_003560.4(PLA2G6):c.1630A>G (p.Met544Val)	Infantile neuroaxonal dystrophy [RCV003050324]	likely pathogenic	22	38120871	38120871	Human	1	name
156182948	CV2288285	single nucleotide variant	NM_003560.4(PLA2G6):c.1670C>G (p.Ser557Trp)	Inborn genetic diseases [RCV002873777]	uncertain significance	22	38120831	38120831	Human	1	name
156194958	CV2309484	single nucleotide variant	NM_003560.4(PLA2G6):c.1696C>T (p.Arg566Trp)	Inborn genetic diseases [RCV002892773]	uncertain significance	22	38120805	38120805	Human	1	name
156203728	CV2401378	single nucleotide variant	NM_003560.4(PLA2G6):c.1549G>T (p.Gly517Cys)	PLA2G6-associated neurodegeneration [RCV002789939]	uncertain significance	22	38123137	38123137	Human	1	name
156203755	CV2401379	single nucleotide variant	NM_003560.4(PLA2G6):c.1472T>G (p.Leu491Arg)	Infantile neuroaxonal dystrophy [RCV003507473]\|PLA2G6-associated neurodegeneration [RCV002789940]	uncertain significance	22	38123214	38123214	Human	1	name
156203790	CV2401381	single nucleotide variant	NM_003560.4(PLA2G6):c.1097T>A (p.Ile366Asn)	Infantile neuroaxonal dystrophy [RCV004765748]\|PLA2G6-associated neurodegeneration [RCV002789942]	pathogenic\|uncertain significance	22	38129543	38129543	Human	1	name
156320478	CV2401383	single nucleotide variant	NM_003560.4(PLA2G6):c.1018G>A (p.Gly340Arg)	PLA2G6-associated neurodegeneration [RCV002810019]	uncertain significance	22	38132890	38132890	Human	1	name
156205625	CV2401506	single nucleotide variant	NM_003560.4(PLA2G6):c.2389C>T (p.Gln797Ter)	PLA2G6-associated neurodegeneration [RCV002790037]	uncertain significance	22	38112193	38112193	Human	1	name
329848071	CV2667690	single nucleotide variant	NM_003560.4(PLA2G6):c.1604C>A (p.Ala535Asp)	not provided [RCV003229257]	uncertain significance	22	38120897	38120897	Human		name
401724126	CV2672223	single nucleotide variant	NM_003560.4(PLA2G6):c.1664A>G (p.Tyr555Cys)	not provided [RCV003239124]	uncertain significance	22	38120837	38120837	Human		name
401769374	CV2689680	single nucleotide variant	NM_003560.4(PLA2G6):c.1081G>A (p.Asp361Asn)	Inborn genetic diseases [RCV003260513]	uncertain significance	22	38129559	38129559	Human	1	name
401738980	CV2738447	single nucleotide variant	NM_003560.4(PLA2G6):c.2159C>T (p.Thr720Ile)	not specified [RCV003317839]	uncertain significance	22	38113530	38113530	Human		name
401797525	CV2742291	single nucleotide variant	NM_003560.4(PLA2G6):c.1630A>C (p.Met544Leu)	not specified [RCV003324472]	uncertain significance	22	38120871	38120871	Human		name
401908859	CV2803599	single nucleotide variant	NM_003560.4(PLA2G6):c.1846A>C (p.Asn616His)	PLA2G6-related disorder [RCV003397709]	uncertain significance	22	38116108	38116108	Human		name , trait , alternate_id
401913456	CV2830398	single nucleotide variant	NM_003560.4(PLA2G6):c.1756G>A (p.Gly586Arg)	not provided [RCV003441613]\|not specified [RCV004587494]	likely pathogenic\|uncertain significance	22	38116198	38116198	Human		name
401944651	CV2840426	single nucleotide variant	NM_003560.4(PLA2G6):c.1672G>C (p.Gly558Arg)	not provided [RCV003457355]	uncertain significance	22	38120829	38120829	Human		name
401944652	CV2840427	single nucleotide variant	NM_003560.4(PLA2G6):c.1651G>A (p.Gly551Ser)	not provided [RCV003457356]	uncertain significance	22	38120850	38120850	Human		name
401964014	CV2843455	single nucleotide variant	NM_003560.4(PLA2G6):c.1288C>T (p.Pro430Ser)	not specified [RCV003479797]	uncertain significance	22	38128329	38128329	Human		name
404991574	CV2852692	single nucleotide variant	NM_003560.4(PLA2G6):c.1258G>A (p.Gly420Arg)	not specified [RCV003490869]	uncertain significance	22	38128359	38128359	Human		name
402499325	CV2888358	single nucleotide variant	NM_003560.4(PLA2G6):c.1982C>T (p.Thr661Met)	Infantile neuroaxonal dystrophy [RCV003508541]\|Infantile neuroaxonal dystrophy [RCV005036867]	pathogenic	22	38115579	38115579	Human	1	name
402502935	CV2902471	single nucleotide variant	NM_003560.4(PLA2G6):c.2144G>A (p.Trp715Ter)	Infantile neuroaxonal dystrophy [RCV003508936]	pathogenic	22	38113545	38113545	Human	1	name
402485539	CV2918732	single nucleotide variant	NM_003560.4(PLA2G6):c.1882C>T (p.Gln628Ter)	Infantile neuroaxonal dystrophy [RCV003506939]	pathogenic	22	38115679	38115679	Human	1	name
402492945	CV2926235	single nucleotide variant	NM_003560.4(PLA2G6):c.1501G>T (p.Glu501Ter)	Infantile neuroaxonal dystrophy [RCV003507838]	pathogenic	22	38123185	38123185	Human	1	name
405115037	CV2972460	single nucleotide variant	NM_003560.4(PLA2G6):c.2170G>A (p.Ala724Thr)	Infantile neuroaxonal dystrophy [RCV003616289]	uncertain significance	22	38113519	38113519	Human	1	name
405119859	CV3025775	single nucleotide variant	NM_003560.4(PLA2G6):c.1666G>T (p.Glu556Ter)	Infantile neuroaxonal dystrophy [RCV003616906]	pathogenic	22	38120835	38120835	Human	1	name
405120014	CV3029811	single nucleotide variant	NM_003560.4(PLA2G6):c.1117G>C (p.Gly373Arg)	Infantile neuroaxonal dystrophy [RCV003616926]	pathogenic	22	38129523	38129523	Human	1	name
405854259	CV3392936	single nucleotide variant	NM_003560.4(PLA2G6):c.1946G>A (p.Arg649His)	not specified [RCV004527093]	uncertain significance	22	38115615	38115615	Human		name
405854430	CV3393047	single nucleotide variant	NM_003560.4(PLA2G6):c.1772G>T (p.Arg591Leu)	Infantile neuroaxonal dystrophy [RCV005038703]\|not specified [RCV004527204]	likely pathogenic\|uncertain significance	22	38116182	38116182	Human	1	name
407456181	CV3415821	single nucleotide variant	NM_003560.4(PLA2G6):c.1686G>T (p.Glu562Asp)	not provided [RCV004598698]	uncertain significance	22	38120815	38120815	Human		name
407518590	CV3470757	single nucleotide variant	NM_003560.4(PLA2G6):c.1712A>G (p.His571Arg)	Inborn genetic diseases [RCV004651053]	uncertain significance	22	38120789	38120789	Human	1	name
407470578	CV3470758	single nucleotide variant	NM_003560.4(PLA2G6):c.2138A>G (p.Asn713Ser)	Inborn genetic diseases [RCV004661986]	uncertain significance	22	38113551	38113551	Human	1	name
407574069	CV3498418	single nucleotide variant	NM_003560.4(PLA2G6):c.2065A>T (p.Ile689Phe)	not specified [RCV004702893]	uncertain significance	22	38113624	38113624	Human		name
408370673	CV3503095	single nucleotide variant	NM_003560.4(PLA2G6):c.1046A>C (p.His349Pro)	not provided [RCV004724216]	uncertain significance	22	38132862	38132862	Human		name
408386814	CV3518556	single nucleotide variant	NM_003560.4(PLA2G6):c.2134A>C (p.Ser712Arg)	not provided [RCV004760874]	uncertain significance	22	38113555	38113555	Human		name
408393975	CV3521657	single nucleotide variant	NM_003560.4(PLA2G6):c.2218G>A (p.Gly740Arg)	Infantile neuroaxonal dystrophy [RCV004764455]	likely pathogenic\|conflicting interpretations of pathogenicity	22	38112562	38112562	Human	1	name
408389103	CV3529220	single nucleotide variant	NM_003560.4(PLA2G6):c.1416C>G (p.Asp472Glu)	not provided [RCV004774042]	uncertain significance	22	38126382	38126382	Human		name
596924398	CV3532250	single nucleotide variant	NM_003560.4(PLA2G6):c.2207C>T (p.Thr736Met)	not provided [RCV004777361]	uncertain significance	22	38112573	38112573	Human		name
596920831	CV3534310	single nucleotide variant	NM_003560.4(PLA2G6):c.1534T>A (p.Phe512Ile)	not specified [RCV004783529]	uncertain significance	22	38123152	38123152	Human		name
596920431	CV3534639	single nucleotide variant	NM_003560.4(PLA2G6):c.1715C>T (p.Thr572Ile)	Neurodegeneration with brain iron accumulation [RCV004782200]	likely pathogenic	22	38120786	38120786	Human	1	name
596925022	CV3541785	duplication	NM_003560.4(PLA2G6):c.1536dup (p.Asp513Ter)	Infantile neuroaxonal dystrophy [RCV004795496]	pathogenic	22	38123149	38123150	Human	1	name
596939857	CV3543122	single nucleotide variant	NM_003560.4(PLA2G6):c.1631T>C (p.Met544Thr)	PLA2G6-associated neurodegeneration [RCV004798994]	pathogenic	22	38120870	38120870	Human	1	name
597725578	CV3569728	single nucleotide variant	NM_003560.4(PLA2G6):c.2392A>C (p.Lys798Gln)	Inborn genetic diseases [RCV004962106]	uncertain significance	22	38112190	38112190	Human	1	name
597725582	CV3569730	single nucleotide variant	NM_003560.4(PLA2G6):c.2203T>C (p.Cys735Arg)	Inborn genetic diseases [RCV004962107]	uncertain significance	22	38112577	38112577	Human	1	name
597725587	CV3569731	single nucleotide variant	NM_003560.4(PLA2G6):c.2224G>T (p.Ala742Ser)	Inborn genetic diseases [RCV004962108]	uncertain significance	22	38112556	38112556	Human	1	name
597668789	CV3727202	single nucleotide variant	NM_003560.4(PLA2G6):c.2266C>T (p.Gln756Ter)	Infantile neuroaxonal dystrophy [RCV005029389]	likely pathogenic	22	38112514	38112514	Human	1	name
597655165	CV3731458	single nucleotide variant	NM_003560.4(PLA2G6):c.1610T>G (p.Met537Arg)	not provided [RCV005001639]	uncertain significance	22	38120891	38120891	Human		name
597945817	CV3755441	single nucleotide variant	NM_003560.4(PLA2G6):c.1039G>C (p.Gly347Arg)	Infantile neuroaxonal dystrophy [RCV005078450]	pathogenic	22	38132869	38132869	Human	1	name
597848711	CV3762225	single nucleotide variant	NM_003560.4(PLA2G6):c.1496C>T (p.Ala499Val)	not specified [RCV005087643]	uncertain significance	22	38123190	38123190	Human		name
597869968	CV3799322	single nucleotide variant	NM_003560.4(PLA2G6):c.2162T>C (p.Val721Ala)	Infantile neuroaxonal dystrophy [RCV005144718]	uncertain significance	22	38113527	38113527	Human	1	name
597891015	CV3821400	single nucleotide variant	NM_003560.4(PLA2G6):c.1665C>A (p.Tyr555Ter)	Infantile neuroaxonal dystrophy [RCV005166042]	pathogenic	22	38120836	38120836	Human	1	name
598125978	CV3883387	single nucleotide variant	NM_003560.4(PLA2G6):c.1748T>C (p.Met583Thr)	Infantile neuroaxonal dystrophy [RCV005233258]	likely pathogenic	22	38116206	38116206	Human	1	name
598124860	CV3885438	single nucleotide variant	NM_003560.4(PLA2G6):c.1924A>G (p.Thr642Ala)	PLA2G6-associated neurodegeneration [RCV005358261]\|not specified [RCV005240016]	uncertain significance	22	38115637	38115637	Human	1	name
598123000	CV3890150	single nucleotide variant	NM_003560.4(PLA2G6):c.2114G>T (p.Cys705Phe)	not provided [RCV005250669]	uncertain significance	22	38113575	38113575	Human		name
598175026	CV3890953	single nucleotide variant	NM_003560.4(PLA2G6):c.2204G>T (p.Cys735Phe)	not provided [RCV005251806]	uncertain significance	22	38112576	38112576	Human		name
598236029	CV3893508	single nucleotide variant	NM_003560.4(PLA2G6):c.2365A>T (p.Ile789Phe)	not provided [RCV005256241]	uncertain significance	22	38112217	38112217	Human		name
598224440	CV3894127	single nucleotide variant	NM_003560.4(PLA2G6):c.1542G>A (p.Trp514Ter)	not provided [RCV005257370]	pathogenic	22	38123144	38123144	Human		name
598226446	CV3894382	single nucleotide variant	NM_003560.4(PLA2G6):c.1647C>A (p.Phe549Leu)	not provided [RCV005257625]	likely pathogenic	22	38120854	38120854	Human		name
598203124	CV3896404	single nucleotide variant	NM_003560.4(PLA2G6):c.1904G>T (p.Arg635Leu)	Infantile neuroaxonal dystrophy [RCV005356655]	uncertain significance	22	38115657	38115657	Human	1	name
8568300	CV39323	single nucleotide variant	NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln)	Autosomal recessive Parkinson disease 14 [RCV000023314]\|Infantile neuroaxonal dystrophy [RCV002477008]\|Infantile neuroaxonal dystrophy [RCV002513186]\|PLA2G6-associated neurodegeneration [RCV000779372]\|not provided [RCV002273936]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	38115657	38115657	Human	2	name
8568301	CV39324	single nucleotide variant	NM_003560.4(PLA2G6):c.1354C>T (p.Gln452Ter)	Autosomal recessive Parkinson disease 14 [RCV000023315]	pathogenic	22	38126444	38126444	Human	1	name
598262586	CV4000286	single nucleotide variant	NM_003560.4(PLA2G6):c.2401C>G (p.Gln801Glu)	Inborn genetic diseases [RCV005387120]	uncertain significance	22	38112181	38112181	Human	1	name
616934968	CV4009197	single nucleotide variant	NM_003560.4(PLA2G6):c.1318C>G (p.Gln440Glu)	not provided [RCV005402369]	uncertain significance	22	38128299	38128299	Human		name
616933797	CV4011762	single nucleotide variant	NM_003560.4(PLA2G6):c.2317G>T (p.Val773Phe)	not specified [RCV005408311]	uncertain significance	22	38112265	38112265	Human		name
616938727	CV4015135	single nucleotide variant	NM_003560.4(PLA2G6):c.2276G>T (p.Arg759Ile)	Infantile neuroaxonal dystrophy [RCV005412152]	uncertain significance	22	38112504	38112504	Human	1	name
21073298	CV792063	single nucleotide variant	NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys)	Infantile neuroaxonal dystrophy [RCV000990438]	likely pathogenic	22	38112232	38112232	Human	1	name
21073300	CV792065	single nucleotide variant	NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)	Inborn genetic diseases [RCV004030118]\|Infantile neuroaxonal dystrophy [RCV000990441]\|Infantile neuroaxonal dystrophy [RCV005029547]\|PLA2G6-associated neurodegeneration [RCV002549744]	likely pathogenic\|uncertain significance	22	38116176	38116176	Human	2	name
21073302	CV792066	single nucleotide variant	NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln)	Infantile neuroaxonal dystrophy [RCV000990442]\|Infantile neuroaxonal dystrophy [RCV005036260]\|Neurodegeneration with brain iron accumulation [RCV004689945]\|not provided [RCV001092012]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	22	38116182	38116182	Human	2	name
21073303	CV792067	single nucleotide variant	NM_003560.4(PLA2G6):c.1624T>G (p.Phe542Val)	Infantile neuroaxonal dystrophy [RCV000990443]	likely pathogenic	22	38120877	38120877	Human	1	name
21073304	CV792068	single nucleotide variant	NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)	Infantile neuroaxonal dystrophy [RCV000990444]\|Infantile neuroaxonal dystrophy [RCV005029548]\|Neurodegeneration with brain iron accumulation [RCV004702560]\|PLA2G6-associated neurodegeneration [RCV002550617]\|PLA2G6-related di ... (more) sorder [RCV003411932]\|not provided [RCV004822278]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	38123191	38123191	Human	4	name , alternate_id
21068341	CV798100	single nucleotide variant	NM_003560.4(PLA2G6):c.2416C>T (p.Pro806Ser)	not provided [RCV000997924]	uncertain significance	22	38112166	38112166	Human		name
21068343	CV798101	single nucleotide variant	NM_003560.4(PLA2G6):c.2356G>C (p.Glu786Gln)	not provided [RCV000997925]	uncertain significance	22	38112226	38112226	Human		name
21068344	CV798102	single nucleotide variant	NM_003560.4(PLA2G6):c.1724C>T (p.Thr575Met)	Infantile neuroaxonal dystrophy [RCV001858868]\|not provided [RCV000997926]	uncertain significance	22	38120777	38120777	Human	1	name
21068346	CV798103	single nucleotide variant	NM_003560.4(PLA2G6):c.1612C>A (p.Arg538Ser)	Infantile neuroaxonal dystrophy [RCV005029557]\|not provided [RCV000997927]\|not specified [RCV004689949]	likely pathogenic\|uncertain significance	22	38120889	38120889	Human	1	name
21068347	CV798104	single nucleotide variant	NM_003560.4(PLA2G6):c.1527G>C (p.Lys509Asn)	not provided [RCV000997928]	uncertain significance	22	38123159	38123159	Human		name
26889969	CV849340	single nucleotide variant	NM_003560.4(PLA2G6):c.2335G>T (p.Val779Phe)	Infantile neuroaxonal dystrophy [RCV001058750]	uncertain significance	22	38112247	38112247	Human	1	name
26887191	CV849341	single nucleotide variant	NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln)	Inborn genetic diseases [RCV002554392]\|Infantile neuroaxonal dystrophy [RCV001055939]\|Infantile neuroaxonal dystrophy [RCV002479340]\|PLA2G6-associated neurodegeneration [RCV005411649]\|not provided [RCV001571527]	uncertain significance	22	38112540	38112540	Human	2	name
26905607	CV849342	single nucleotide variant	NM_003560.4(PLA2G6):c.1448T>C (p.Leu483Pro)	Infantile neuroaxonal dystrophy [RCV001072098]	uncertain significance	22	38123238	38123238	Human	1	name
26919943	CV849343	single nucleotide variant	NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile)	Inborn genetic diseases [RCV002553151]\|Infantile neuroaxonal dystrophy [RCV001046693]\|Infantile neuroaxonal dystrophy [RCV002481926]\|PLA2G6-associated neurodegeneration [RCV001144630]\|not provided [RCV002260678]	conflicting interpretations of pathogenicity\|uncertain significance	22	38126371	38126371	Human	2	name
26921567	CV849344	single nucleotide variant	NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)	Autosomal recessive Parkinson disease 14 [RCV001542713]\|Infantile neuroaxonal dystrophy [RCV001050248]\|Neurodegeneration with brain iron accumulation 2B [RCV004768815]\|not specified [RCV003317423]	pathogenic\|likely pathogenic\|uncertain significance	22	38132847	38132847	Human	3	name
28887990	CV860728	single nucleotide variant	NM_003560.4(PLA2G6):c.1627C>T (p.Arg543Cys)	Infantile neuroaxonal dystrophy [RCV003507352]\|PLA2G6-associated neurodegeneration [RCV002557959]\|not provided [RCV001092013]	pathogenic\|likely pathogenic	22	38120874	38120874	Human	1	name
28888016	CV860729	single nucleotide variant	NM_003560.4(PLA2G6):c.1367A>C (p.His456Pro)	not provided [RCV001092015]	uncertain significance	22	38126431	38126431	Human		name
28888028	CV860730	single nucleotide variant	NM_003560.4(PLA2G6):c.1186C>T (p.Leu396Phe)	not provided [RCV001092016]	uncertain significance	22	38129454	38129454	Human		name
28880194	CV891300	single nucleotide variant	NM_003560.4(PLA2G6):c.2376C>A (p.His792Gln)	PLA2G6-associated neurodegeneration [RCV001149229]	uncertain significance	22	38112206	38112206	Human	1	name
28904802	CV891304	single nucleotide variant	NM_003560.4(PLA2G6):c.1600A>G (p.Met534Val)	Inborn genetic diseases [RCV004659363]\|PLA2G6-associated neurodegeneration [RCV001144629]\|not provided [RCV001700703]	uncertain significance	22	38120901	38120901	Human	2	name
8637642	CV92868	single nucleotide variant	NM_003560.2(PLA2G6):c.2293G>A (p.Gly765Arg)	Malignant melanoma [RCV000072966]	not provided	22	38112289	38112289	Human		name
38478920	CV939315	single nucleotide variant	NM_003560.4(PLA2G6):c.1601T>A (p.Met534Lys)	Infantile neuroaxonal dystrophy [RCV001205762]	uncertain significance	22	38120900	38120900	Human	1	name
38471919	CV939316	single nucleotide variant	NM_003560.4(PLA2G6):c.1486C>T (p.Leu496Phe)	Infantile neuroaxonal dystrophy [RCV001213901]	uncertain significance	22	38123200	38123200	Human	1	name
38483741	CV951474	single nucleotide variant	NM_003560.4(PLA2G6):c.1786C>T (p.Leu596Phe)	Infantile neuroaxonal dystrophy [RCV001236048]\|Infantile neuroaxonal dystrophy [RCV002491762]	uncertain significance	22	38116168	38116168	Human	1	name
38466296	CV962186	single nucleotide variant	NM_003560.4(PLA2G6):c.2152G>A (p.Ala718Thr)	Inborn genetic diseases [RCV002570423]\|Infantile neuroaxonal dystrophy [RCV002570422]\|Neurodegeneration with brain iron accumulation 2B [RCV001250513]	uncertain significance	22	38113537	38113537	Human	3	name
40886890	CV974235	single nucleotide variant	NM_003560.4(PLA2G6):c.2204G>C (p.Cys735Ser)	Inborn genetic diseases [RCV001266199]	uncertain significance	22	38112576	38112576	Human	1	name
40887183	CV974237	single nucleotide variant	NM_003560.4(PLA2G6):c.1111G>A (p.Val371Met)	Inborn genetic diseases [RCV001266643]\|Infantile neuroaxonal dystrophy [RCV001644963]\|PLA2G6-associated neurodegeneration [RCV002537691]	likely pathogenic	22	38129529	38129529	Human	2	name
40889826	CV975577	single nucleotide variant	NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr)	Infantile neuroaxonal dystrophy [RCV002245911]\|PLA2G6-associated neurodegeneration [RCV002537707]\|not provided [RCV001268304]	pathogenic\|likely pathogenic\|uncertain significance	22	38132887	38132887	Human	1	name
156117681	CV985771	single nucleotide variant	NM_003560.4(PLA2G6):c.2356G>A (p.Glu786Lys)	PLA2G6-associated neurodegeneration [RCV002543543]	uncertain significance	22	38112226	38112226	Human	1	name
405120508	CV3020894	microsatellite	NM_003560.4(PLA2G6):c.1454GAG[2] (p.Gly487del)	Infantile neuroaxonal dystrophy [RCV003616988]\|PLA2G6-related disorder [RCV003984413]	likely pathogenic\|uncertain significance	22	38123224	38123226	Human		alternate_id
13532372	CV512524	single nucleotide variant	NM_003560.4(PLA2G6):c.1985T>C (p.Leu662Pro)	Inborn genetic diseases [RCV000624135]\|Infantile neuroaxonal dystrophy [RCV002531891]\|PLA2G6-related disorder [RCV003403434]	uncertain significance	22	38115576	38115576	Human	2	alternate_id
150493177	CV1281725	microsatellite	NM_003560.4(PLA2G6):c.1742+253GGCTCTGCCCTGCC[3]	not provided [RCV001716954]	benign	22	38120478	38120479	Human		name
13819835	CV575509	indel	NM_003560.2(PLA2G6):c.-545_-46+1931delinsCGATCTC	Infantile neuroaxonal dystrophy [RCV000708573]	pathogenic	22	38179733	38182163	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message