Pnpla2 Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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626 records found for search term Pnpla2

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11609818	CV315338	single nucleotide variant	NM_020376.4(PNPLA2):c.-31C>T	Neutral lipid storage myopathy [RCV000372944]	uncertain significance	11	819688	819688	Human	1	name
11616484	CV328265	single nucleotide variant	NM_020376.4(PNPLA2):c.-19C>A	Neutral lipid storage myopathy [RCV000294803]	likely benign\|uncertain significance	11	819700	819700	Human	1	name
28871880	CV868871	single nucleotide variant	NM_020376.4(PNPLA2):c.-83G>A	Neutral lipid storage myopathy [RCV001114287]	uncertain significance	11	819636	819636	Human	1	name
28872274	CV868879	single nucleotide variant	NM_020376.4(PNPLA2):c.*17A>G	Neutral lipid storage myopathy [RCV001114466]	uncertain significance	11	824879	824879	Human	1	name
28872277	CV868880	single nucleotide variant	NM_020376.4(PNPLA2):c.*88G>T	Neutral lipid storage myopathy [RCV001114467]	uncertain significance	11	824950	824950	Human	1	name
11600588	CV315348	single nucleotide variant	NM_020376.4(PNPLA2):c.*383C>T	Neutral lipid storage myopathy [RCV000274864]\|not provided [RCV004693069]	uncertain significance	11	825245	825245	Human	1	name
11606123	CV315349	single nucleotide variant	NM_020376.4(PNPLA2):c.*479C>T	Neutral lipid storage myopathy [RCV000327657]	likely benign\|uncertain significance	11	825341	825341	Human	1	name
11599877	CV315352	single nucleotide variant	NM_020376.4(PNPLA2):c.*596C>G	Neutral lipid storage myopathy [RCV000269030]	benign\|likely benign	11	825458	825458	Human	1	name
11655553	CV315358	single nucleotide variant	NM_020376.4(PNPLA2):c.*637C>T	Neutral lipid storage myopathy [RCV000326538]	uncertain significance	11	825499	825499	Human	1	name
11605119	CV322188	single nucleotide variant	NM_020376.4(PNPLA2):c.-117G>A	Neutral lipid storage myopathy [RCV000316031]\|not provided [RCV004693067]	uncertain significance	11	819602	819602	Human	1	name
11609364	CV322211	single nucleotide variant	NM_020376.4(PNPLA2):c.*302G>A	Neutral lipid storage myopathy [RCV000366904]	uncertain significance	11	825164	825164	Human	1	name
11645507	CV328250	single nucleotide variant	NM_020376.4(PNPLA2):c.-165A>G	Neutral lipid storage myopathy [RCV000265733]	uncertain significance	11	818939	818939	Human	1	name
11619066	CV328260	single nucleotide variant	NM_020376.4(PNPLA2):c.-159A>G	Neutral lipid storage myopathy [RCV000320879]	uncertain significance	11	818945	818945	Human	1	name
11612882	CV328261	single nucleotide variant	NM_020376.4(PNPLA2):c.-118C>T	Neutral lipid storage myopathy [RCV000263198]\|not provided [RCV004693066]	uncertain significance	11	819601	819601	Human	1	name
11626212	CV328308	single nucleotide variant	NM_020376.4(PNPLA2):c.*248A>G	Neutral lipid storage myopathy [RCV000408389]\|not provided [RCV001636876]	benign	11	825110	825110	Human	3	name
11618514	CV329609	single nucleotide variant	NM_020376.4(PNPLA2):c.*288C>T	Neutral lipid storage myopathy [RCV000314606]\|not provided [RCV004705231]	likely benign\|uncertain significance	11	825150	825150	Human	1	name
11622920	CV329610	single nucleotide variant	NM_020376.4(PNPLA2):c.*567G>C	Neutral lipid storage myopathy [RCV000365859]	uncertain significance	11	825429	825429	Human	1	name
28869083	CV868869	single nucleotide variant	NM_020376.4(PNPLA2):c.-167G>T	Neutral lipid storage myopathy [RCV001112927]	uncertain significance	11	818937	818937	Human	1	name
28871879	CV868870	single nucleotide variant	NM_020376.4(PNPLA2):c.-120C>T	Neutral lipid storage myopathy [RCV001114286]	uncertain significance	11	819599	819599	Human	1	name
28872281	CV868881	single nucleotide variant	NM_020376.4(PNPLA2):c.*134C>G	Neutral lipid storage myopathy [RCV001114468]	uncertain significance	11	824996	824996	Human	1	name
28872284	CV868882	single nucleotide variant	NM_020376.4(PNPLA2):c.*160C>A	Neutral lipid storage myopathy [RCV001114469]	uncertain significance	11	825022	825022	Human	1	name
28911373	CV868883	single nucleotide variant	NM_020376.4(PNPLA2):c.*232C>T	Neutral lipid storage myopathy [RCV001110442]	uncertain significance	11	825094	825094	Human	1	name
28911374	CV868884	single nucleotide variant	NM_020376.4(PNPLA2):c.*384C>T	Neutral lipid storage myopathy [RCV001110443]	uncertain significance	11	825246	825246	Human	1	name
28911375	CV868885	single nucleotide variant	NM_020376.4(PNPLA2):c.*385G>T	Neutral lipid storage myopathy [RCV001110444]	uncertain significance	11	825247	825247	Human	1	name
28911792	CV868886	single nucleotide variant	NM_020376.4(PNPLA2):c.*568A>C	Neutral lipid storage myopathy [RCV001111186]	uncertain significance	11	825430	825430	Human	1	name
28911793	CV868887	single nucleotide variant	NM_020376.4(PNPLA2):c.*595C>A	Neutral lipid storage myopathy [RCV001111187]	uncertain significance	11	825457	825457	Human	1	name
28911794	CV868888	single nucleotide variant	NM_020376.4(PNPLA2):c.*603A>G	Neutral lipid storage myopathy [RCV001111188]	uncertain significance	11	825465	825465	Human	1	name
127233475	CV1053988	single nucleotide variant	NM_020376.4(PNPLA2):c.758-1G>C	Neutral lipid storage myopathy [RCV001376180]	likely pathogenic	11	823693	823693	Human	1	name
127276992	CV1078959	single nucleotide variant	NM_020376.4(PNPLA2):c.486+9T>G	Neutral lipid storage myopathy [RCV001407496]	likely benign	11	822032	822032	Human	1	name
127278187	CV1100683	single nucleotide variant	NM_020376.4(PNPLA2):c.420+8C>G	Neutral lipid storage myopathy [RCV001444882]	likely benign	11	821868	821868	Human	1	name
150408748	CV1182195	single nucleotide variant	NM_020376.4(PNPLA2):c.919+8C>G	Myopathy [RCV001553540]	uncertain significance	11	823863	823863	Human	2	name
151730973	CV1420744	single nucleotide variant	NM_020376.4(PNPLA2):c.919+5G>C	Neutral lipid storage myopathy [RCV002041191]	uncertain significance	11	823860	823860	Human	1	name
151722579	CV1422034	single nucleotide variant	NM_020376.4(PNPLA2):c.757+6C>T	Neutral lipid storage myopathy [RCV001909945]	uncertain significance	11	823593	823593	Human	1	name
152149136	CV1593099	single nucleotide variant	NM_020376.4(PNPLA2):c.919+8C>T	Neutral lipid storage myopathy [RCV002101951]	likely benign	11	823863	823863	Human	1	name
156386021	CV1891803	single nucleotide variant	NM_020376.4(PNPLA2):c.421-1G>A	Neutral lipid storage myopathy [RCV003067561]	likely pathogenic	11	821957	821957	Human	1	name
11550205	CV254342	single nucleotide variant	NM_020376.4(PNPLA2):c.487-8C>T	Neutral lipid storage myopathy [RCV000401409]\|not provided [RCV001200078]\|not specified [RCV000251437]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	822389	822389	Human	1	name
11548415	CV254349	single nucleotide variant	NM_020376.4(PNPLA2):c.919+4C>T	Neutral lipid storage myopathy [RCV000274490]\|not provided [RCV000858896]\|not specified [RCV000249057]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	823859	823859	Human	1	name
405110253	CV2876627	single nucleotide variant	NM_020376.4(PNPLA2):c.920-5C>T	Neutral lipid storage myopathy [RCV003499168]	likely benign	11	823993	823993	Human	1	name
405019404	CV2947944	single nucleotide variant	NM_020376.4(PNPLA2):c.421-9G>T	Neutral lipid storage myopathy [RCV003600587]	likely benign	11	821949	821949	Human	1	name
405033553	CV3080255	single nucleotide variant	NM_020376.4(PNPLA2):c.188-4C>T	Neutral lipid storage myopathy [RCV003601981]	likely benign	11	821624	821624	Human	1	name
405176909	CV3146890	single nucleotide variant	NM_020376.4(PNPLA2):c.757+7G>A	Neutral lipid storage myopathy [RCV003841985]	likely benign	11	823594	823594	Human	1	name
11617633	CV328270	single nucleotide variant	NM_020376.4(PNPLA2):c.487-7G>C	Neutral lipid storage myopathy [RCV000306235]\|PNPLA2-related disorder [RCV003920265]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	822390	822390	Human	2	name , trait , alternate_id
597964717	CV3750968	single nucleotide variant	NM_020376.4(PNPLA2):c.421-6C>T	Neutral lipid storage myopathy [RCV005082530]	likely benign	11	821952	821952	Human	1	name
597901399	CV3779097	single nucleotide variant	NM_020376.4(PNPLA2):c.920-6C>T	Neutral lipid storage myopathy [RCV005127174]	likely benign	11	823992	823992	Human	1	name
597942876	CV3780033	single nucleotide variant	NM_020376.4(PNPLA2):c.421-2A>T	Neutral lipid storage myopathy [RCV005119042]	likely pathogenic	11	821956	821956	Human	1	name
597974486	CV3801801	single nucleotide variant	NM_020376.4(PNPLA2):c.920-9C>T	Neutral lipid storage myopathy [RCV005143790]	likely benign	11	823989	823989	Human	1	name
597850787	CV3803685	single nucleotide variant	NM_020376.4(PNPLA2):c.187+9G>A	Neutral lipid storage myopathy [RCV005145402]	likely benign	11	819914	819914	Human	1	name
13467723	CV462015	single nucleotide variant	NM_020376.4(PNPLA2):c.697-3C>T	Neutral lipid storage myopathy [RCV000544096]	uncertain significance	11	823524	823524	Human	1	name
8570684	CV48464	single nucleotide variant	NM_020376.4(PNPLA2):c.757+2T>C	Neutral lipid storage myopathy [RCV000033092]	pathogenic	11	823589	823589	Human	1	name
8570686	CV48466	single nucleotide variant	NM_020376.4(PNPLA2):c.757+1G>T	Neutral lipid storage myopathy [RCV000033094]	pathogenic	11	823588	823588	Human	1	name
13532222	CV511948	single nucleotide variant	NM_020376.4(PNPLA2):c.187+1G>C	Inborn genetic diseases [RCV000624017]\|Neutral lipid storage myopathy [RCV003497872]	pathogenic\|likely pathogenic	11	819906	819906	Human	2	name
13814652	CV564916	single nucleotide variant	NM_020376.4(PNPLA2):c.757+5G>A	Neutral lipid storage myopathy [RCV000705182]	uncertain significance	11	823592	823592	Human	1	name
14711522	CV652603	single nucleotide variant	NM_020376.4(PNPLA2):c.420+6G>T	Neutral lipid storage myopathy [RCV000818029]	uncertain significance	11	821866	821866	Human	1	name
15139431	CV744691	single nucleotide variant	NM_020376.4(PNPLA2):c.919+9C>A	Neutral lipid storage myopathy [RCV002540184]	likely benign	11	823864	823864	Human	1	name
15118278	CV775760	single nucleotide variant	NM_020376.4(PNPLA2):c.920-7C>T	Neutral lipid storage myopathy [RCV001433255]	likely benign	11	823991	823991	Human	1	name
15197177	CV775886	single nucleotide variant	NM_020376.4(PNPLA2):c.758-4C>T	not provided [RCV000934436]	likely benign	11	823690	823690	Human		name
15104042	CV787723	single nucleotide variant	NM_020376.4(PNPLA2):c.757+9A>C	Neutral lipid storage myopathy [RCV002066453]	likely benign	11	823596	823596	Human	1	name
15145190	CV787840	single nucleotide variant	NM_020376.4(PNPLA2):c.421-5T>C	Neutral lipid storage myopathy [RCV000983618]	likely benign	11	821953	821953	Human	1	name
26889883	CV851463	single nucleotide variant	NM_020376.4(PNPLA2):c.919+3G>A	Neutral lipid storage myopathy [RCV001045793]	uncertain significance	11	823858	823858	Human	1	name
28911697	CV872147	single nucleotide variant	NM_020376.4(PNPLA2):c.487-7G>A	Neutral lipid storage myopathy [RCV001111018]\|PNPLA2-related disorder [RCV003953483]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	822390	822390	Human	2	name , trait , alternate_id
126751111	CV1030578	single nucleotide variant	NM_020376.4(PNPLA2):c.1176-4G>T	Neutral lipid storage myopathy [RCV001352375]	likely benign\|uncertain significance	11	824519	824519	Human	1	name
151236003	CV1319433	single nucleotide variant	NM_020376.4(PNPLA2):c.919+42G>A	not provided [RCV001797378]	likely benign	11	823897	823897	Human		name
152175561	CV1526904	single nucleotide variant	NM_020376.4(PNPLA2):c.920-18C>A	Neutral lipid storage myopathy [RCV002163696]	likely benign	11	823980	823980	Human	1	name
152050235	CV1527739	single nucleotide variant	NM_020376.4(PNPLA2):c.486+15C>T	Neutral lipid storage myopathy [RCV002089062]	likely benign	11	822038	822038	Human	1	name
152138807	CV1549586	single nucleotide variant	NM_020376.4(PNPLA2):c.919+18G>C	Neutral lipid storage myopathy [RCV002156490]\|not provided [RCV004706418]	likely benign	11	823873	823873	Human	1	name
152168844	CV1598218	single nucleotide variant	NM_020376.4(PNPLA2):c.696+18G>C	Neutral lipid storage myopathy [RCV002142585]	likely benign	11	822624	822624	Human	1	name
152101402	CV1606873	single nucleotide variant	NM_020376.4(PNPLA2):c.758-11C>T	Neutral lipid storage myopathy [RCV002195596]	likely benign	11	823683	823683	Human	1	name
152049861	CV1615209	single nucleotide variant	NM_020376.4(PNPLA2):c.187+18C>A	Neutral lipid storage myopathy [RCV002089015]	likely benign	11	819923	819923	Human	1	name
152053449	CV1651566	single nucleotide variant	NM_020376.4(PNPLA2):c.421-17C>T	Neutral lipid storage myopathy [RCV002145961]	likely benign	11	821941	821941	Human	1	name
152147028	CV1653569	single nucleotide variant	NM_020376.4(PNPLA2):c.487-15T>C	Neutral lipid storage myopathy [RCV002138951]	likely benign	11	822382	822382	Human	1	name
152144574	CV1658165	duplication	NM_020376.4(PNPLA2):c.757+15dup	Neutral lipid storage myopathy [RCV002219836]	likely benign	11	823599	823600	Human	1	name
156386242	CV1874975	single nucleotide variant	NM_020376.4(PNPLA2):c.757+14G>A	Neutral lipid storage myopathy [RCV003050880]	likely benign	11	823601	823601	Human	1	name
155996894	CV1875951	single nucleotide variant	NM_020376.4(PNPLA2):c.421-12C>T	Neutral lipid storage myopathy [RCV003076388]	likely benign	11	821946	821946	Human	1	name
156386349	CV1894075	single nucleotide variant	NM_020376.4(PNPLA2):c.757+11C>A	Neutral lipid storage myopathy [RCV003093719]	likely benign	11	823598	823598	Human	1	name
156136811	CV1902053	single nucleotide variant	NM_020376.4(PNPLA2):c.697-15C>A	Neutral lipid storage myopathy [RCV003082045]	likely benign	11	823512	823512	Human	1	name
156413039	CV1968922	single nucleotide variant	NM_020376.4(PNPLA2):c.919+18G>T	Neutral lipid storage myopathy [RCV002608720]	likely benign	11	823873	823873	Human	1	name
156342324	CV1974181	deletion	NM_020376.4(PNPLA2):c.757+15del	Neutral lipid storage myopathy [RCV002601346]	likely benign	11	823600	823600	Human	1	name
156108305	CV2002144	single nucleotide variant	NM_020376.4(PNPLA2):c.696+18G>A	Neutral lipid storage myopathy [RCV002639839]	likely benign	11	822624	822624	Human	1	name
156363758	CV2003403	single nucleotide variant	NM_020376.4(PNPLA2):c.758-10C>G	Neutral lipid storage myopathy [RCV002676419]	likely benign	11	823684	823684	Human	1	name
156216334	CV2047599	single nucleotide variant	NM_020376.4(PNPLA2):c.696+14C>T	Neutral lipid storage myopathy [RCV002790452]	likely benign	11	822620	822620	Human	1	name
155940804	CV2054950	single nucleotide variant	NM_020376.4(PNPLA2):c.758-10C>T	Neutral lipid storage myopathy [RCV002815683]	likely benign	11	823684	823684	Human	1	name
156026212	CV2108720	single nucleotide variant	NM_020376.4(PNPLA2):c.758-14C>T	Neutral lipid storage myopathy [RCV002909853]	likely benign	11	823680	823680	Human	1	name
156107964	CV2149557	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-5C>G	Neutral lipid storage myopathy [RCV003021292]	likely benign	11	824309	824309	Human	1	name
155967358	CV2156145	single nucleotide variant	NM_020376.4(PNPLA2):c.757+15G>A	Neutral lipid storage myopathy [RCV003015768]	likely benign	11	823602	823602	Human	1	name
156014124	CV2177301	single nucleotide variant	NM_020376.4(PNPLA2):c.696+19A>G	Neutral lipid storage myopathy [RCV003035396]	likely benign	11	822625	822625	Human	1	name
11550280	CV254339	single nucleotide variant	NM_020376.4(PNPLA2):c.187+15G>A	Neutral lipid storage myopathy [RCV000352052]\|not provided [RCV001660341]\|not specified [RCV000251538]	benign\|likely benign	11	819920	819920	Human	1	name
11548866	CV254344	single nucleotide variant	NM_020376.4(PNPLA2):c.696+15G>A	Neutral lipid storage myopathy [RCV001113011]\|not provided [RCV002278213]\|not specified [RCV000249659]	benign\|likely benign	11	822621	822621	Human	1	name
11551089	CV254345	single nucleotide variant	NM_020376.4(PNPLA2):c.696+16A>G	Neutral lipid storage myopathy [RCV001544061]\|not provided [RCV001539697]\|not specified [RCV000252594]	benign	11	822622	822622	Human	1	name
11548483	CV254347	single nucleotide variant	NM_020376.4(PNPLA2):c.757+16C>T	Neutral lipid storage myopathy [RCV002058290]\|not specified [RCV000249152]	benign\|likely benign	11	823603	823603	Human	1	name
405111164	CV2869587	single nucleotide variant	NM_020376.4(PNPLA2):c.757+13G>A	Neutral lipid storage myopathy [RCV003499195]	likely benign	11	823600	823600	Human	1	name
405107810	CV2921331	single nucleotide variant	NM_020376.4(PNPLA2):c.696+14C>G	Neutral lipid storage myopathy [RCV003498556]	likely benign	11	822620	822620	Human	1	name
405018657	CV2947370	single nucleotide variant	NM_020376.4(PNPLA2):c.919+18G>A	Neutral lipid storage myopathy [RCV003600533]	likely benign	11	823873	823873	Human	1	name
405015814	CV3049762	single nucleotide variant	NM_020376.4(PNPLA2):c.758-20C>T	Neutral lipid storage myopathy [RCV003600300]	likely benign	11	823674	823674	Human	1	name
405025984	CV3069927	deletion	NM_020376.4(PNPLA2):c.919+20del	Neutral lipid storage myopathy [RCV003601267]	likely benign	11	823873	823873	Human	1	name
405102401	CV3119158	single nucleotide variant	NM_020376.4(PNPLA2):c.420+14G>A	Neutral lipid storage myopathy [RCV003811609]	likely benign	11	821874	821874	Human	1	name
405109350	CV3136772	duplication	NM_020376.4(PNPLA2):c.919+15dup	Neutral lipid storage myopathy [RCV003835926]	benign	11	823865	823866	Human	1	name
405247920	CV3159114	single nucleotide variant	NM_020376.4(PNPLA2):c.697-15C>T	Neutral lipid storage myopathy [RCV003869259]	likely benign	11	823512	823512	Human	1	name
402519671	CV3179397	single nucleotide variant	NM_020376.4(PNPLA2):c.920-20G>A	Neutral lipid storage myopathy [RCV003879648]	likely benign	11	823978	823978	Human	1	name
11619979	CV328294	single nucleotide variant	NM_020376.4(PNPLA2):c.920-13C>T	Neutral lipid storage myopathy [RCV000331362]	conflicting interpretations of pathogenicity\|uncertain significance	11	823985	823985	Human	1	name
597915590	CV3767373	single nucleotide variant	NM_020376.4(PNPLA2):c.187+12C>T	Neutral lipid storage myopathy [RCV005114364]	likely benign	11	819917	819917	Human	1	name
597942829	CV3786317	single nucleotide variant	NM_020376.4(PNPLA2):c.1176-9G>A	Neutral lipid storage myopathy [RCV005134008]	likely benign	11	824514	824514	Human	1	name
597858001	CV3817009	single nucleotide variant	NM_020376.4(PNPLA2):c.187+16G>A	Neutral lipid storage myopathy [RCV005146390]	likely benign	11	819921	819921	Human	1	name
597941018	CV3836797	single nucleotide variant	NM_020376.4(PNPLA2):c.758-14C>G	Neutral lipid storage myopathy [RCV005187817]	likely benign	11	823680	823680	Human	1	name
597965531	CV3848303	single nucleotide variant	NM_020376.4(PNPLA2):c.188-19C>G	Neutral lipid storage myopathy [RCV005194183]	likely benign	11	821609	821609	Human	1	name
597930136	CV3862306	single nucleotide variant	NM_020376.4(PNPLA2):c.187+20G>A	Neutral lipid storage myopathy [RCV005206548]	likely benign	11	819925	819925	Human	1	name
597929373	CV3862863	single nucleotide variant	NM_020376.4(PNPLA2):c.1176-3C>G	Neutral lipid storage myopathy [RCV005206397]	uncertain significance	11	824520	824520	Human	1	name
14710948	CV652135	single nucleotide variant	NM_020376.4(PNPLA2):c.1175+3G>A	Neutral lipid storage myopathy [RCV000816172]	uncertain significance	11	824439	824439	Human	1	name
28911696	CV872146	single nucleotide variant	NM_020376.4(PNPLA2):c.487-15T>G	Neutral lipid storage myopathy [RCV001111017]	conflicting interpretations of pathogenicity\|uncertain significance	11	822382	822382	Human	1	name
28872092	CV872148	single nucleotide variant	NM_020376.4(PNPLA2):c.757+11C>G	Neutral lipid storage myopathy [RCV001114385]	uncertain significance	11	823598	823598	Human	1	name
150424738	CV1184591	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-21C>T	not provided [RCV001557058]	likely benign	11	824293	824293	Human		name
150462037	CV1253317	single nucleotide variant	NM_020376.4(PNPLA2):c.696+216T>C	not provided [RCV001669646]	benign	11	822822	822822	Human		name
151233458	CV1317088	single nucleotide variant	NM_020376.4(PNPLA2):c.-145-48G>A	not provided [RCV001786909]	likely benign	11	819526	819526	Human		name
152089615	CV1563126	single nucleotide variant	NM_020376.4(PNPLA2):c.1175+18C>A	Neutral lipid storage myopathy [RCV002113893]	likely benign	11	824454	824454	Human	1	name
152077228	CV1604689	single nucleotide variant	NM_020376.4(PNPLA2):c.1052+13G>A	Neutral lipid storage myopathy [RCV002092385]	likely benign	11	824143	824143	Human	1	name
152140870	CV1618566	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-20G>A	Neutral lipid storage myopathy [RCV002156752]	likely benign	11	824294	824294	Human	1	name
152109231	CV1623584	duplication	NM_020376.4(PNPLA2):c.1052+19dup	Neutral lipid storage myopathy [RCV002215245]	likely benign	11	824148	824149	Human	1	name
152055036	CV1637230	single nucleotide variant	NM_020376.4(PNPLA2):c.1052+15G>C	Neutral lipid storage myopathy [RCV002207976]	likely benign	11	824145	824145	Human	1	name
152114736	CV1659683	single nucleotide variant	NM_020376.4(PNPLA2):c.1052+20G>A	Neutral lipid storage myopathy [RCV002080737]	likely benign	11	824150	824150	Human	1	name
156408357	CV1869981	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-16C>G	Neutral lipid storage myopathy [RCV003071236]	likely benign	11	824298	824298	Human	1	name
156352042	CV1883266	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-17G>A	Neutral lipid storage myopathy [RCV003091054]	likely benign	11	824297	824297	Human	1	name
156412994	CV1891501	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-13G>C	Neutral lipid storage myopathy [RCV003073113]	likely benign	11	824301	824301	Human	1	name
156122870	CV1952844	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-18C>T	Neutral lipid storage myopathy [RCV002571934]	likely benign	11	824296	824296	Human	1	name
156228568	CV2115487	duplication	NM_020376.4(PNPLA2):c.1052+17dup	Neutral lipid storage myopathy [RCV002932736]	benign	11	824141	824142	Human	1	name
405103910	CV2905717	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-10C>A	Neutral lipid storage myopathy [RCV003497424]	likely benign	11	824304	824304	Human	1	name
405033866	CV3073879	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-14C>T	Neutral lipid storage myopathy [RCV003601898]	likely benign	11	824300	824300	Human	1	name
11661360	CV322187	single nucleotide variant	NM_020376.4(PNPLA2):c.-145-11C>T	Neutral lipid storage myopathy [RCV000375537]	uncertain significance	11	819563	819563	Human	1	name
597953857	CV3795640	single nucleotide variant	NM_020376.4(PNPLA2):c.1176-18C>T	Neutral lipid storage myopathy [RCV005136650]	likely benign	11	824505	824505	Human	1	name
597858422	CV3816649	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-12C>T	Neutral lipid storage myopathy [RCV005146222]	likely benign	11	824302	824302	Human	1	name
597967157	CV3823802	single nucleotide variant	NM_020376.4(PNPLA2):c.1052+17G>A	Neutral lipid storage myopathy [RCV005165222]	likely benign	11	824147	824147	Human	1	name
597967191	CV3823885	single nucleotide variant	NM_020376.4(PNPLA2):c.1175+10C>T	Neutral lipid storage myopathy [RCV005165305]	likely benign	11	824446	824446	Human	1	name
597918609	CV3842194	single nucleotide variant	NM_020376.4(PNPLA2):c.1175+18C>G	Neutral lipid storage myopathy [RCV005183869]	likely benign	11	824454	824454	Human	1	name
597919986	CV3842578	single nucleotide variant	NM_020376.4(PNPLA2):c.1053-16C>T	Neutral lipid storage myopathy [RCV005184063]	likely benign	11	824298	824298	Human	1	name
13611061	CV526554	single nucleotide variant	NM_020376.4(PNPLA2):c.1052+10C>T	Neutral lipid storage myopathy [RCV000641670]	likely benign	11	824140	824140	Human	1	name
14707066	CV665287	single nucleotide variant	NM_020376.4(PNPLA2):c.-145-88T>C	not provided [RCV000826718]	benign	11	819486	819486	Human		name
14721827	CV665897	single nucleotide variant	NM_020376.4(PNPLA2):c.1176-27C>G	not provided [RCV000831838]	benign	11	824496	824496	Human		name
14707069	CV666312	single nucleotide variant	NM_020376.4(PNPLA2):c.187+222T>G	not provided [RCV000826719]	benign	11	820127	820127	Human		name
28911746	CV872149	single nucleotide variant	NM_020376.4(PNPLA2):c.1052+12G>T	Neutral lipid storage myopathy [RCV001111095]	uncertain significance	11	824142	824142	Human	1	name
150492820	CV1238548	single nucleotide variant	NM_020376.4(PNPLA2):c.-145-110T>G	not provided [RCV001655092]	benign	11	819464	819464	Human		name
11621935	CV328307	microsatellite	NM_020376.4(PNPLA2):c.*126TGCA[1]	Neutral lipid storage myopathy [RCV000354073]\|not provided [RCV001707638]	benign	11	824988	824991	Human		name
597901410	CV3835469	microsatellite	NM_020376.4(PNPLA2):c.487-17TG[2]	Neutral lipid storage myopathy [RCV005181193]	likely benign	11	822380	822381	Human		name
150513804	CV1210699	microsatellite	NM_020376.4(PNPLA2):c.696+205TC[6]	not provided [RCV001598740]	benign	11	822810	822811	Human		name
126770696	CV1010034	duplication	NM_020376.4(PNPLA2):c.754_757+14dup	Neutral lipid storage myopathy [RCV001322728]	uncertain significance	11	823580	823581	Human	1	name
151878632	CV1350345	deletion	NM_020376.4(PNPLA2):c.919+4_919+18del	Neutral lipid storage myopathy [RCV002036566]	uncertain significance	11	823858	823872	Human	1	name
151830825	CV1384501	microsatellite	NM_020376.4(PNPLA2):c.697-10_697-8del	Neutral lipid storage myopathy [RCV001955664]	likely benign\|uncertain significance	11	823513	823515	Human		name
152047815	CV1519816	single nucleotide variant	NM_020376.4(PNPLA2):c.21G>A (p.Thr7=)	Neutral lipid storage myopathy [RCV002145286]	likely benign	11	819739	819739	Human	1	name
405244252	CV3161156	single nucleotide variant	NM_020376.4(PNPLA2):c.18G>A (p.Lys6=)	Neutral lipid storage myopathy [RCV003868065]	likely benign	11	819736	819736	Human	1	name
127276349	CV1100687	deletion	NM_020376.4(PNPLA2):c.1176-6_1176-5del	Neutral lipid storage myopathy [RCV001432745]	likely benign	11	824515	824516	Human	1	name
127300925	CV1122132	single nucleotide variant	NM_020376.4(PNPLA2):c.90C>G (p.Arg30=)	Neutral lipid storage myopathy [RCV001461229]\|not provided [RCV003426114]	likely benign	11	819808	819808	Human	1	name
127312518	CV1122133	single nucleotide variant	NM_020376.4(PNPLA2):c.96C>T (p.His32=)	Neutral lipid storage myopathy [RCV001464427]	likely benign	11	819814	819814	Human	1	name
156449365	CV1944632	duplication	NM_020376.4(PNPLA2):c.757+20_757+33dup	Neutral lipid storage myopathy [RCV003121486]	likely benign	11	823604	823605	Human	1	name
156447165	CV1944863	microsatellite	NM_020376.4(PNPLA2):c.487-18_487-15del	Neutral lipid storage myopathy [RCV003118692]	likely benign	11	822375	822378	Human		name
156392573	CV2123556	single nucleotide variant	NM_020376.4(PNPLA2):c.33G>C (p.Ser11=)	Neutral lipid storage myopathy [RCV002944061]	likely benign	11	819751	819751	Human	1	name
405030229	CV2968576	deletion	NM_020376.4(PNPLA2):c.919+21_919+24del	Neutral lipid storage myopathy [RCV003601520]	likely benign	11	823873	823876	Human	1	name
405090341	CV3167854	single nucleotide variant	NM_020376.4(PNPLA2):c.60C>T (p.Val20=)	Neutral lipid storage myopathy [RCV003852244]	likely benign	11	819778	819778	Human	1	name
597907079	CV3773139	deletion	NM_020376.4(PNPLA2):c.919+18_919+25del	Neutral lipid storage myopathy [RCV005113204]	likely benign	11	823873	823880	Human	1	name
597971840	CV3798921	duplication	NM_020376.4(PNPLA2):c.187+18_187+30dup	Neutral lipid storage myopathy [RCV005142333]	likely benign	11	819916	819917	Human	1	name
13477358	CV462002	single nucleotide variant	NM_020376.4(PNPLA2):c.30C>T (p.Ile10=)	Neutral lipid storage myopathy [RCV001084806]\|not provided [RCV000549557]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	819748	819748	Human	1	name
14720421	CV640479	single nucleotide variant	NM_020376.4(PNPLA2):c.72C>T (p.Gly24=)	Neutral lipid storage myopathy [RCV000813022]	likely benign\|uncertain significance	11	819790	819790	Human	1	name
15153679	CV738333	single nucleotide variant	NM_020376.4(PNPLA2):c.42C>T (p.Gly14=)	not provided [RCV000901807]	likely benign	11	819760	819760	Human		name
28911268	CV868872	single nucleotide variant	NM_020376.4(PNPLA2):c.36C>T (p.Phe12=)	Neutral lipid storage myopathy [RCV001110266]	conflicting interpretations of pathogenicity\|uncertain significance	11	819754	819754	Human	1	name
127335046	CV1122134	single nucleotide variant	NM_020376.4(PNPLA2):c.204G>A (p.Lys68=)	Neutral lipid storage myopathy [RCV001473988]	likely benign	11	821644	821644	Human	1	name
151748699	CV1383292	single nucleotide variant	NM_020376.4(PNPLA2):c.10C>T (p.Arg4Cys)	Neutral lipid storage myopathy [RCV001947905]\|not provided [RCV005225543]	uncertain significance	11	819728	819728	Human	1	name
152128045	CV1572183	single nucleotide variant	NM_020376.4(PNPLA2):c.102C>T (p.Pro34=)	Neutral lipid storage myopathy [RCV002217679]	likely benign	11	819820	819820	Human	1	name
152029761	CV1653459	single nucleotide variant	NM_020376.4(PNPLA2):c.117C>T (p.Asn39=)	Neutral lipid storage myopathy [RCV002085913]	likely benign	11	819835	819835	Human	1	name
152089701	CV1654716	single nucleotide variant	NM_020376.4(PNPLA2):c.267C>T (p.Asn89=)	Neutral lipid storage myopathy [RCV002212554]	likely benign	11	821707	821707	Human	1	name
156354731	CV1880141	single nucleotide variant	NM_020376.4(PNPLA2):c.241C>T (p.Leu81=)	Neutral lipid storage myopathy [RCV003065140]	likely benign	11	821681	821681	Human	1	name
156296685	CV1924155	single nucleotide variant	NM_020376.4(PNPLA2):c.138C>T (p.Ala46=)	Neutral lipid storage myopathy [RCV002629047]	likely benign	11	819856	819856	Human	1	name
156156540	CV2033581	single nucleotide variant	NM_020376.4(PNPLA2):c.123G>T (p.Thr41=)	Neutral lipid storage myopathy [RCV002741397]	likely benign	11	819841	819841	Human	1	name
156103866	CV2113502	single nucleotide variant	NM_020376.4(PNPLA2):c.291C>T (p.Phe97=)	Neutral lipid storage myopathy [RCV002952839]	uncertain significance	11	821731	821731	Human	1	name
11543016	CV254340	single nucleotide variant	NM_020376.4(PNPLA2):c.246C>A (p.Gly82=)	Neutral lipid storage myopathy [RCV000539182]\|not specified [RCV000241898]	benign	11	821686	821686	Human	1	name
405105452	CV2858269	single nucleotide variant	NM_020376.4(PNPLA2):c.171C>T (p.Val57=)	Neutral lipid storage myopathy [RCV003498124]	likely benign	11	819889	819889	Human	1	name
405013113	CV3022889	single nucleotide variant	NM_020376.4(PNPLA2):c.250C>T (p.Leu84=)	Neutral lipid storage myopathy [RCV003599990]	likely benign	11	821690	821690	Human	1	name
408386054	CV3415526	single nucleotide variant	NM_020376.4(PNPLA2):c.24G>A (p.Trp8Ter)	Neutral lipid storage myopathy [RCV004767627]	likely pathogenic	11	819742	819742	Human	1	name
597927637	CV3836979	single nucleotide variant	NM_020376.4(PNPLA2):c.184C>T (p.Leu62=)	Neutral lipid storage myopathy [RCV005185330]	likely benign	11	819902	819902	Human	1	name
13611056	CV526790	single nucleotide variant	NM_020376.4(PNPLA2):c.201C>G (p.Ala67=)	Neutral lipid storage myopathy [RCV000641668]	likely benign	11	821641	821641	Human	1	name
13611249	CV527073	single nucleotide variant	NM_020376.4(PNPLA2):c.165G>C (p.Ala55=)	Neutral lipid storage myopathy [RCV001426509]\|not provided [RCV003424218]	likely benign	11	819883	819883	Human	1	name
15125240	CV693116	single nucleotide variant	NM_020376.4(PNPLA2):c.282C>T (p.Ile94=)	Neutral lipid storage myopathy [RCV000874917]	likely benign	11	821722	821722	Human	1	name
15164097	CV724771	single nucleotide variant	NM_020376.4(PNPLA2):c.165G>T (p.Ala55=)	Neutral lipid storage myopathy [RCV000882121]\|PNPLA2-related disorder [RCV003948318]	likely benign\|conflicting interpretations of pathogenicity	11	819883	819883	Human	2	name , trait , alternate_id
15102322	CV768814	single nucleotide variant	NM_020376.4(PNPLA2):c.177G>C (p.Gly59=)	Neutral lipid storage myopathy [RCV001428770]\|PNPLA2-related disorder [RCV003983286]	likely benign	11	819895	819895	Human	2	name , trait , alternate_id
15102143	CV784230	single nucleotide variant	NM_020376.4(PNPLA2):c.258C>T (p.Pro86=)	Neutral lipid storage myopathy [RCV001469365]	likely benign	11	821698	821698	Human	1	name
26904868	CV839115	single nucleotide variant	NM_020376.4(PNPLA2):c.11G>A (p.Arg4His)	Neutral lipid storage myopathy [RCV001036756]	uncertain significance	11	819729	819729	Human	1	name
126771653	CV1030573	single nucleotide variant	NM_020376.4(PNPLA2):c.74T>C (p.Val25Ala)	Inborn genetic diseases [RCV004960827]\|Neutral lipid storage myopathy [RCV001345170]	uncertain significance	11	819792	819792	Human	2	name
126916956	CV1047577	single nucleotide variant	NM_020376.4(PNPLA2):c.52C>T (p.Leu18Phe)	Neutral lipid storage myopathy [RCV001371798]	uncertain significance	11	819770	819770	Human	1	name
126922453	CV1047578	single nucleotide variant	NM_020376.4(PNPLA2):c.80C>T (p.Ser27Phe)	Neutral lipid storage myopathy [RCV001364691]	uncertain significance	11	819798	819798	Human	1	name
127232258	CV1078960	single nucleotide variant	NM_020376.4(PNPLA2):c.693C>G (p.Pro231=)	Neutral lipid storage myopathy [RCV001413372]	likely benign	11	822603	822603	Human	1	name
127274652	CV1078961	single nucleotide variant	NM_020376.4(PNPLA2):c.813C>G (p.Gly271=)	Neutral lipid storage myopathy [RCV001406382]\|not provided [RCV004707588]	likely benign	11	823749	823749	Human	1	name
127267055	CV1100684	single nucleotide variant	NM_020376.4(PNPLA2):c.453C>T (p.Tyr151=)	Neutral lipid storage myopathy [RCV001440440]	likely benign	11	821990	821990	Human	1	name
127265600	CV1100685	single nucleotide variant	NM_020376.4(PNPLA2):c.846C>T (p.Ala282=)	Neutral lipid storage myopathy [RCV001429138]	likely benign	11	823782	823782	Human	1	name
127237351	CV1100686	single nucleotide variant	NM_020376.4(PNPLA2):c.939G>A (p.Val313=)	Neutral lipid storage myopathy [RCV001433517]	likely benign	11	824017	824017	Human	1	name
127288839	CV1143004	single nucleotide variant	NM_020376.4(PNPLA2):c.381C>A (p.Val127=)	Neutral lipid storage myopathy [RCV001495433]	likely benign	11	821821	821821	Human	1	name
127291302	CV1143005	single nucleotide variant	NM_020376.4(PNPLA2):c.408C>T (p.Asp136=)	Neutral lipid storage myopathy [RCV001496201]	likely benign	11	821848	821848	Human	1	name
127314733	CV1143006	single nucleotide variant	NM_020376.4(PNPLA2):c.702G>T (p.Leu234=)	Neutral lipid storage myopathy [RCV001482324]	likely benign	11	823532	823532	Human	1	name
151861520	CV1374236	single nucleotide variant	NM_020376.4(PNPLA2):c.687G>A (p.Pro229=)	Neutral lipid storage myopathy [RCV001938605]	conflicting interpretations of pathogenicity\|uncertain significance	11	822597	822597	Human	1	name
151877351	CV1395489	single nucleotide variant	NM_020376.4(PNPLA2):c.55G>C (p.Gly19Arg)	Neutral lipid storage myopathy [RCV002019700]	uncertain significance	11	819773	819773	Human	1	name
151882869	CV1443317	single nucleotide variant	NM_020376.4(PNPLA2):c.77C>T (p.Ala26Val)	Inborn genetic diseases [RCV003289107]\|Neutral lipid storage myopathy [RCV002037228]	uncertain significance	11	819795	819795	Human	2	name
152055370	CV1522598	single nucleotide variant	NM_020376.4(PNPLA2):c.925C>T (p.Leu309=)	Neutral lipid storage myopathy [RCV002146159]	likely benign	11	824003	824003	Human	1	name
152124511	CV1527686	single nucleotide variant	NM_020376.4(PNPLA2):c.783G>A (p.Leu261=)	Neutral lipid storage myopathy [RCV002082022]	likely benign	11	823719	823719	Human	1	name
152036273	CV1545966	single nucleotide variant	NM_020376.4(PNPLA2):c.684G>T (p.Pro228=)	Neutral lipid storage myopathy [RCV002164993]	likely benign	11	822594	822594	Human	1	name
152113899	CV1559185	single nucleotide variant	NM_020376.4(PNPLA2):c.828C>T (p.Asp276=)	Neutral lipid storage myopathy [RCV002174676]	likely benign	11	823764	823764	Human	1	name
152171251	CV1562229	single nucleotide variant	NM_020376.4(PNPLA2):c.414C>T (p.Leu138=)	Neutral lipid storage myopathy [RCV002183436]	likely benign	11	821854	821854	Human	1	name
152158164	CV1564352	single nucleotide variant	NM_020376.4(PNPLA2):c.891G>A (p.Leu297=)	Neutral lipid storage myopathy [RCV002140465]\|PNPLA2-related disorder [RCV003958895]	likely benign	11	823827	823827	Human	2	name , trait , alternate_id
152122901	CV1570501	single nucleotide variant	NM_020376.4(PNPLA2):c.516C>T (p.Asn172=)	Neutral lipid storage myopathy [RCV002217021]\|PNPLA2-related disorder [RCV003893202]	likely benign	11	822426	822426	Human	2	name , trait , alternate_id
152130825	CV1585391	single nucleotide variant	NM_020376.4(PNPLA2):c.789G>A (p.Ala263=)	Neutral lipid storage myopathy [RCV002155511]	likely benign	11	823725	823725	Human	1	name
152081181	CV1589370	single nucleotide variant	NM_020376.4(PNPLA2):c.852G>A (p.Ala284=)	Neutral lipid storage myopathy [RCV002112772]	likely benign	11	823788	823788	Human	1	name
152118461	CV1602579	single nucleotide variant	NM_020376.4(PNPLA2):c.936C>T (p.Cys312=)	Neutral lipid storage myopathy [RCV002117522]	likely benign	11	824014	824014	Human	1	name
152138004	CV1603837	single nucleotide variant	NM_020376.4(PNPLA2):c.912C>T (p.Leu304=)	Neutral lipid storage myopathy [RCV002218985]	likely benign	11	823848	823848	Human	1	name
152040598	CV1644626	single nucleotide variant	NM_020376.4(PNPLA2):c.609C>T (p.His203=)	Neutral lipid storage myopathy [RCV002165631]	likely benign	11	822519	822519	Human	1	name
152114958	CV1659722	single nucleotide variant	NM_020376.4(PNPLA2):c.795C>G (p.Pro265=)	Neutral lipid storage myopathy [RCV002080766]	likely benign	11	823731	823731	Human	1	name
156016924	CV1885314	single nucleotide variant	NM_020376.4(PNPLA2):c.88C>T (p.Arg30Cys)	Inborn genetic diseases [RCV003161700]\|Neutral lipid storage myopathy [RCV003077414]	uncertain significance	11	819806	819806	Human	2	name
156225535	CV1981570	single nucleotide variant	NM_020376.4(PNPLA2):c.868C>T (p.Leu290=)	Neutral lipid storage myopathy [RCV002626603]	likely benign	11	823804	823804	Human	1	name
156384994	CV2001768	single nucleotide variant	NM_020376.4(PNPLA2):c.43T>A (p.Cys15Ser)	Neutral lipid storage myopathy [RCV002653928]	uncertain significance	11	819761	819761	Human	1	name
156009629	CV2011379	single nucleotide variant	NM_020376.4(PNPLA2):c.843C>T (p.Ser281=)	Neutral lipid storage myopathy [RCV002690444]	likely benign	11	823779	823779	Human	1	name
156361476	CV2016693	single nucleotide variant	NM_020376.4(PNPLA2):c.483G>C (p.Gly161=)	Neutral lipid storage myopathy [RCV002720893]	likely benign	11	822020	822020	Human	1	name
156087083	CV2034137	single nucleotide variant	NM_020376.4(PNPLA2):c.426T>C (p.Asn142=)	Neutral lipid storage myopathy [RCV002760813]	likely benign	11	821963	821963	Human	1	name
156142969	CV2037145	single nucleotide variant	NM_020376.4(PNPLA2):c.963C>T (p.Thr321=)	Neutral lipid storage myopathy [RCV002786590]	likely benign	11	824041	824041	Human	1	name
155935974	CV2045775	single nucleotide variant	NM_020376.4(PNPLA2):c.543C>T (p.Thr181=)	Neutral lipid storage myopathy [RCV002751459]\|PNPLA2-related disorder [RCV004756421]	likely benign	11	822453	822453	Human	2	name , trait , alternate_id
156022983	CV2105876	single nucleotide variant	NM_020376.4(PNPLA2):c.795C>T (p.Pro265=)	Neutral lipid storage myopathy [RCV002923157]	likely benign	11	823731	823731	Human	1	name
156037299	CV2218567	single nucleotide variant	NM_020376.4(PNPLA2):c.70G>T (p.Gly24Cys)	Inborn genetic diseases [RCV002692013]	uncertain significance	11	819788	819788	Human	1	name
11546472	CV254341	single nucleotide variant	NM_020376.4(PNPLA2):c.369C>T (p.Asp123=)	Neutral lipid storage myopathy [RCV000293478]\|not provided [RCV003422178]\|not specified [RCV000246504]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	821809	821809	Human	1	name
11545117	CV254343	single nucleotide variant	NM_020376.4(PNPLA2):c.678C>T (p.Leu226=)	Neutral lipid storage myopathy [RCV000407009]\|not provided [RCV001610716]\|not specified [RCV000244708]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	822588	822588	Human	1	name
11544653	CV254348	single nucleotide variant	NM_020376.4(PNPLA2):c.873C>G (p.Pro291=)	Neutral lipid storage myopathy [RCV000261463]\|not provided [RCV001711827]\|not specified [RCV000244079]	benign	11	823809	823809	Human	1	name
401907812	CV2806411	single nucleotide variant	NM_020376.4(PNPLA2):c.834A>C (p.Ala278=)	not provided [RCV003422924]	likely benign	11	823770	823770	Human		name
405110712	CV2880112	single nucleotide variant	NM_020376.4(PNPLA2):c.753G>A (p.Arg251=)	Neutral lipid storage myopathy [RCV003499164]	likely benign	11	823583	823583	Human	1	name
405107358	CV2909388	single nucleotide variant	NM_020376.4(PNPLA2):c.738G>A (p.Leu246=)	Neutral lipid storage myopathy [RCV003498396]	likely benign	11	823568	823568	Human	1	name
405107283	CV2917243	single nucleotide variant	NM_020376.4(PNPLA2):c.63C>G (p.Tyr21Ter)	Neutral lipid storage myopathy [RCV003498521]	pathogenic	11	819781	819781	Human	1	name
405019618	CV2939170	single nucleotide variant	NM_020376.4(PNPLA2):c.675C>T (p.Ala225=)	Neutral lipid storage myopathy [RCV003600642]	likely benign	11	822585	822585	Human	1	name
405028256	CV2970929	single nucleotide variant	NM_020376.4(PNPLA2):c.921C>G (p.Ala307=)	Neutral lipid storage myopathy [RCV003601433]	likely benign	11	823999	823999	Human	1	name
405029246	CV2976093	single nucleotide variant	NM_020376.4(PNPLA2):c.792G>A (p.Leu264=)	Neutral lipid storage myopathy [RCV003601562]	likely benign	11	823728	823728	Human	1	name
405036289	CV2994946	single nucleotide variant	NM_020376.4(PNPLA2):c.771G>A (p.Arg257=)	Neutral lipid storage myopathy [RCV003602112]	likely benign	11	823707	823707	Human	1	name
405035907	CV2996084	single nucleotide variant	NM_020376.4(PNPLA2):c.927G>A (p.Leu309=)	Neutral lipid storage myopathy [RCV003602196]	likely benign	11	824005	824005	Human	1	name
405038228	CV3005542	single nucleotide variant	NM_020376.4(PNPLA2):c.763C>T (p.Leu255=)	Neutral lipid storage myopathy [RCV003602383]	likely benign	11	823699	823699	Human	1	name
405038015	CV3007917	single nucleotide variant	NM_020376.4(PNPLA2):c.393C>T (p.His131=)	Neutral lipid storage myopathy [RCV003602312]	likely benign	11	821833	821833	Human	1	name
405015235	CV3039417	single nucleotide variant	NM_020376.4(PNPLA2):c.45C>A (p.Cys15Ter)	Neutral lipid storage myopathy [RCV003600240]	pathogenic	11	819763	819763	Human	1	name
405016263	CV3047042	single nucleotide variant	NM_020376.4(PNPLA2):c.951C>T (p.Asp317=)	Neutral lipid storage myopathy [RCV003600345]	likely benign	11	824029	824029	Human	1	name
405035038	CV3070750	single nucleotide variant	NM_020376.4(PNPLA2):c.441C>T (p.Phe147=)	Neutral lipid storage myopathy [RCV003601863]	likely benign	11	821978	821978	Human	1	name
11607564	CV315342	single nucleotide variant	NM_020376.4(PNPLA2):c.591C>T (p.Asp197=)	Neutral lipid storage myopathy [RCV000344798]\|PNPLA2-related disorder [RCV003910129]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	822501	822501	Human	2	name , trait , alternate_id
405254360	CV3175052	single nucleotide variant	NM_020376.4(PNPLA2):c.906C>T (p.Ala302=)	Neutral lipid storage myopathy [RCV003871504]	likely benign	11	823842	823842	Human	1	name
405250654	CV3180803	single nucleotide variant	NM_020376.4(PNPLA2):c.76G>A (p.Ala26Thr)	Neutral lipid storage myopathy [RCV003870081]	uncertain significance	11	819794	819794	Human	1	name
11607641	CV322189	single nucleotide variant	NM_020376.4(PNPLA2):c.399C>T (p.Asn133=)	Neutral lipid storage myopathy [RCV000346165]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	821839	821839	Human	1	name
11606550	CV322201	single nucleotide variant	NM_020376.4(PNPLA2):c.903C>T (p.Pro301=)	Neutral lipid storage myopathy [RCV000332934]\|not provided [RCV003422255]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	823839	823839	Human	1	name
11622374	CV328271	single nucleotide variant	NM_020376.4(PNPLA2):c.747G>A (p.Leu249=)	Neutral lipid storage myopathy [RCV000359633]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	823577	823577	Human	1	name
11612844	CV328278	single nucleotide variant	NM_020376.4(PNPLA2):c.781T>C (p.Leu261=)	Neutral lipid storage myopathy [RCV000262589]\|PNPLA2-related disorder [RCV003977890]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	823717	823717	Human	2	name , trait , alternate_id
11660917	CV328281	single nucleotide variant	NM_020376.4(PNPLA2):c.912C>A (p.Leu304=)	Neutral lipid storage myopathy [RCV000371374]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	823848	823848	Human	1	name
407429025	CV3413412	single nucleotide variant	NM_020376.4(PNPLA2):c.91G>T (p.Glu31Ter)	Neutral lipid storage myopathy [RCV004594819]	likely pathogenic	11	819809	819809	Human	1	name
597963850	CV3754216	single nucleotide variant	NM_020376.4(PNPLA2):c.690G>A (p.Glu230=)	Neutral lipid storage myopathy [RCV005082323]	likely benign	11	822600	822600	Human	1	name
597891599	CV3763025	single nucleotide variant	NM_020376.4(PNPLA2):c.900G>T (p.Leu300=)	Neutral lipid storage myopathy [RCV005110798]	likely benign	11	823836	823836	Human	1	name
597874451	CV3766145	single nucleotide variant	NM_020376.4(PNPLA2):c.897C>T (p.His299=)	Neutral lipid storage myopathy [RCV005108277]	likely benign	11	823833	823833	Human	1	name
597894181	CV3833436	single nucleotide variant	NM_020376.4(PNPLA2):c.543C>A (p.Thr181=)	Neutral lipid storage myopathy [RCV005180128]	likely benign	11	822453	822453	Human	1	name
597919035	CV3842527	single nucleotide variant	NM_020376.4(PNPLA2):c.363G>A (p.Val121=)	Neutral lipid storage myopathy [RCV005184012]	likely benign	11	821803	821803	Human	1	name
597905896	CV3846628	single nucleotide variant	NM_020376.4(PNPLA2):c.933C>T (p.Ala311=)	Neutral lipid storage myopathy [RCV005182055]	likely benign	11	824011	824011	Human	1	name
597870986	CV3849246	single nucleotide variant	NM_020376.4(PNPLA2):c.645C>T (p.Asn215=)	Neutral lipid storage myopathy [RCV005197427]	likely benign	11	822555	822555	Human	1	name
597929198	CV3862832	single nucleotide variant	NM_020376.4(PNPLA2):c.900G>A (p.Leu300=)	Neutral lipid storage myopathy [RCV005206366]	likely benign	11	823836	823836	Human	1	name
13494570	CV461471	single nucleotide variant	NM_020376.4(PNPLA2):c.85C>T (p.Leu29Phe)	Inborn genetic diseases [RCV004955640]\|Neutral lipid storage myopathy [RCV000536494]	uncertain significance	11	819803	819803	Human	2	name
13473819	CV461479	single nucleotide variant	NM_020376.4(PNPLA2):c.873C>A (p.Pro291=)	Neutral lipid storage myopathy [RCV000525549]	likely benign	11	823809	823809	Human	1	name
13469686	CV462009	single nucleotide variant	NM_020376.4(PNPLA2):c.435C>T (p.Ser145=)	Neutral lipid storage myopathy [RCV000545559]	likely benign	11	821972	821972	Human	1	name
13475810	CV462313	single nucleotide variant	NM_020376.4(PNPLA2):c.360C>T (p.Arg120=)	Neutral lipid storage myopathy [RCV000526453]\|PNPLA2-related disorder [RCV003900176]	likely benign	11	821800	821800	Human	2	name , trait , alternate_id
15141872	CV687830	single nucleotide variant	NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=)	Neutral lipid storage myopathy [RCV000865436]\|not provided [RCV001779090]	likely benign\|conflicting interpretations of pathogenicity	11	822402	822402	Human	1	name
15104522	CV687831	single nucleotide variant	NM_020376.4(PNPLA2):c.726C>T (p.Tyr242=)	Neutral lipid storage myopathy [RCV001114384]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	823556	823556	Human	1	name
15113283	CV693117	single nucleotide variant	NM_020376.4(PNPLA2):c.528T>C (p.Tyr176=)	Neutral lipid storage myopathy [RCV001493891]	likely benign	11	822438	822438	Human	1	name
15144812	CV693118	single nucleotide variant	NM_020376.4(PNPLA2):c.918G>A (p.Glu306=)	Neutral lipid storage myopathy [RCV000878280]\|PNPLA2-related disorder [RCV003967952]\|not provided [RCV003884780]	likely benign	11	823854	823854	Human	2	name , trait , alternate_id
15188459	CV702010	single nucleotide variant	NM_020376.4(PNPLA2):c.396C>T (p.Phe132=)	Neutral lipid storage myopathy [RCV001403700]	likely benign	11	821836	821836	Human	1	name
15180989	CV702011	single nucleotide variant	NM_020376.4(PNPLA2):c.597C>T (p.Ser199=)	Neutral lipid storage myopathy [RCV000951875]	likely benign\|conflicting interpretations of pathogenicity	11	822507	822507	Human	1	name
15167872	CV702012	single nucleotide variant	NM_020376.4(PNPLA2):c.789G>C (p.Ala263=)	Neutral lipid storage myopathy [RCV000949141]	likely benign	11	823725	823725	Human	1	name
15105605	CV724772	single nucleotide variant	NM_020376.4(PNPLA2):c.966C>T (p.Leu322=)	not provided [RCV000893113]	likely benign	11	824044	824044	Human		name
15191089	CV738334	single nucleotide variant	NM_020376.4(PNPLA2):c.462C>T (p.Leu154=)	Neutral lipid storage myopathy [RCV000910145]	likely benign	11	821999	821999	Human	1	name
15199332	CV768815	single nucleotide variant	NM_020376.4(PNPLA2):c.447C>T (p.Pro149=)	Neutral lipid storage myopathy [RCV001438605]	likely benign	11	821984	821984	Human	1	name
15194742	CV768816	single nucleotide variant	NM_020376.4(PNPLA2):c.669C>T (p.Ser223=)	not provided [RCV000933729]	likely benign	11	822579	822579	Human		name
15127520	CV784231	single nucleotide variant	NM_020376.4(PNPLA2):c.471C>A (p.Pro157=)	not provided [RCV000980559]	likely benign	11	822008	822008	Human		name
26917264	CV839117	single nucleotide variant	NM_020376.4(PNPLA2):c.372C>T (p.Gly124=)	Neutral lipid storage myopathy [RCV001056894]	uncertain significance	11	821812	821812	Human	1	name
26891846	CV839119	single nucleotide variant	NM_020376.4(PNPLA2):c.564G>A (p.Ser188=)	Neutral lipid storage myopathy [RCV001068425]	uncertain significance	11	822474	822474	Human	1	name
26922726	CV839121	single nucleotide variant	NM_020376.4(PNPLA2):c.735C>T (p.Gly245=)	Neutral lipid storage myopathy [RCV001062630]	likely benign\|uncertain significance	11	823565	823565	Human	1	name
28911695	CV868874	single nucleotide variant	NM_020376.4(PNPLA2):c.444C>T (p.Ile148=)	Neutral lipid storage myopathy [RCV001111016]	uncertain significance	11	821981	821981	Human	1	name
28869198	CV868876	single nucleotide variant	NM_020376.4(PNPLA2):c.717G>A (p.Lys239=)	Neutral lipid storage myopathy [RCV001113012]	uncertain significance	11	823547	823547	Human	1	name
38486963	CV926402	single nucleotide variant	NM_020376.4(PNPLA2):c.62A>G (p.Tyr21Cys)	Neutral lipid storage myopathy [RCV001220544]	uncertain significance	11	819780	819780	Human	1	name
38467749	CV947720	single nucleotide variant	NM_020376.4(PNPLA2):c.40G>A (p.Gly14Ser)	Neutral lipid storage myopathy [RCV001230482]	uncertain significance	11	819758	819758	Human	1	name
39456877	CV965653	single nucleotide variant	NM_020376.4(PNPLA2):c.32C>T (p.Ser11Leu)	Abnormality of the musculature [RCV001814293]\|Neutral lipid storage myopathy [RCV001255207]	likely pathogenic	11	819750	819750	Human	3	name
126736298	CV1020954	single nucleotide variant	NM_020376.4(PNPLA2):c.161C>G (p.Thr54Arg)	Neutral lipid storage myopathy [RCV001335050]	uncertain significance	11	819879	819879	Human	1	name
126913777	CV1047579	single nucleotide variant	NM_020376.4(PNPLA2):c.247C>G (p.Pro83Ala)	Neutral lipid storage myopathy [RCV001359302]	uncertain significance	11	821687	821687	Human	1	name
127233574	CV1062537	deletion	NM_020376.4(PNPLA2):c.792del (p.Leu264fs)	Neutral lipid storage myopathy [RCV001381728]	pathogenic\|likely pathogenic	11	823728	823728	Human	1	name
127260599	CV1078962	single nucleotide variant	NM_020376.4(PNPLA2):c.1350C>A (p.Thr450=)	Neutral lipid storage myopathy [RCV001402214]	likely benign	11	824697	824697	Human	1	name
127242556	CV1078963	single nucleotide variant	NM_020376.4(PNPLA2):c.1437C>T (p.His479=)	Neutral lipid storage myopathy [RCV001393359]	likely benign	11	824784	824784	Human	1	name
127255978	CV1100688	single nucleotide variant	NM_020376.4(PNPLA2):c.1428C>T (p.Ser476=)	Neutral lipid storage myopathy [RCV001437556]	likely benign	11	824775	824775	Human	1	name
127249126	CV1100689	single nucleotide variant	NM_020376.4(PNPLA2):c.1479C>T (p.Pro493=)	Neutral lipid storage myopathy [RCV001436029]	likely benign	11	824826	824826	Human	1	name
127294819	CV1122135	single nucleotide variant	NM_020376.4(PNPLA2):c.1446C>G (p.Ala482=)	Neutral lipid storage myopathy [RCV001476934]	likely benign	11	824793	824793	Human	1	name
127335980	CV1143007	single nucleotide variant	NM_020376.4(PNPLA2):c.1041C>G (p.Ser347=)	Neutral lipid storage myopathy [RCV001491850]	likely benign	11	824119	824119	Human	1	name
127290205	CV1143008	single nucleotide variant	NM_020376.4(PNPLA2):c.1359C>T (p.Ala453=)	Neutral lipid storage myopathy [RCV001495907]	likely benign	11	824706	824706	Human	1	name
151885227	CV1444838	deletion	NM_020376.4(PNPLA2):c.903del (p.Ala302fs)	Neutral lipid storage myopathy [RCV001941902]	pathogenic	11	823837	823837	Human	1	name
151885657	CV1445027	deletion	NM_020376.4(PNPLA2):c.440del (p.Phe147fs)	Neutral lipid storage myopathy [RCV001941995]	pathogenic	11	821975	821975	Human	1	name
151724919	CV1452101	single nucleotide variant	NM_020376.4(PNPLA2):c.157G>A (p.Ala53Thr)	Neutral lipid storage myopathy [RCV002040561]	uncertain significance	11	819875	819875	Human	1	name
151717905	CV1469210	single nucleotide variant	NM_020376.4(PNPLA2):c.194C>T (p.Ala65Val)	Neutral lipid storage myopathy [RCV002039612]	uncertain significance	11	821634	821634	Human	1	name
151767290	CV1492947	single nucleotide variant	NM_020376.4(PNPLA2):c.284G>A (p.Arg95His)	Neutral lipid storage myopathy [RCV001914633]\|not provided [RCV004693851]	uncertain significance	11	821724	821724	Human	1	name
152139171	CV1533370	single nucleotide variant	NM_020376.4(PNPLA2):c.1332G>T (p.Leu444=)	Neutral lipid storage myopathy [RCV002083922]	likely benign	11	824679	824679	Human	1	name
152075106	CV1551108	single nucleotide variant	NM_020376.4(PNPLA2):c.1293C>T (p.Asp431=)	Neutral lipid storage myopathy [RCV002192306]	likely benign	11	824640	824640	Human	1	name
152135404	CV1560362	single nucleotide variant	NM_020376.4(PNPLA2):c.1056G>A (p.Leu352=)	Neutral lipid storage myopathy [RCV002137473]	likely benign	11	824317	824317	Human	1	name
152136003	CV1560521	single nucleotide variant	NM_020376.4(PNPLA2):c.1116C>T (p.Ser372=)	Neutral lipid storage myopathy [RCV002137549]	likely benign	11	824377	824377	Human	1	name
152088276	CV1577185	single nucleotide variant	NM_020376.4(PNPLA2):c.1036C>T (p.Leu346=)	Neutral lipid storage myopathy [RCV002212366]	likely benign	11	824114	824114	Human	1	name
152090525	CV1580843	single nucleotide variant	NM_020376.4(PNPLA2):c.1218G>T (p.Pro406=)	Neutral lipid storage myopathy [RCV002094108]	likely benign	11	824565	824565	Human	1	name
152149971	CV1601607	single nucleotide variant	NM_020376.4(PNPLA2):c.1066C>T (p.Leu356=)	Neutral lipid storage myopathy [RCV002158029]	likely benign	11	824327	824327	Human	1	name
152159719	CV1605835	single nucleotide variant	NM_020376.4(PNPLA2):c.1455C>T (p.Ala485=)	Neutral lipid storage myopathy [RCV002103563]	likely benign	11	824802	824802	Human	1	name
152074966	CV1620501	single nucleotide variant	NM_020376.4(PNPLA2):c.1164C>T (p.His388=)	Neutral lipid storage myopathy [RCV002111972]	likely benign	11	824425	824425	Human	1	name
152031083	CV1632460	single nucleotide variant	NM_020376.4(PNPLA2):c.1257G>T (p.Leu419=)	Neutral lipid storage myopathy [RCV002124474]	likely benign	11	824604	824604	Human	1	name
152101480	CV1645824	single nucleotide variant	NM_020376.4(PNPLA2):c.1032C>T (p.Ser344=)	Neutral lipid storage myopathy [RCV002173163]	likely benign	11	824110	824110	Human	1	name
152103207	CV1656775	single nucleotide variant	NM_020376.4(PNPLA2):c.1182G>A (p.Pro394=)	Neutral lipid storage myopathy [RCV002115617]\|not provided [RCV003886561]	likely benign	11	824529	824529	Human	1	name
8556518	CV16912	deletion	NM_020376.4(PNPLA2):c.808del (p.His270fs)	Neutral lipid storage myopathy [RCV000001950]	pathogenic	11	823740	823740	Human	1	name
8556520	CV16914	deletion	NM_020376.4(PNPLA2):c.847del (p.Gln283fs)	Neutral lipid storage myopathy [RCV000001952]	pathogenic	11	823781	823781	Human	1	name
156404261	CV1872095	single nucleotide variant	NM_020376.4(PNPLA2):c.1476T>G (p.Ala492=)	Neutral lipid storage myopathy [RCV003052791]	likely benign	11	824823	824823	Human	1	name
156090828	CV1895521	single nucleotide variant	NM_020376.4(PNPLA2):c.127A>G (p.Ile43Val)	Inborn genetic diseases [RCV003161805]\|Neutral lipid storage myopathy [RCV003080208]	uncertain significance	11	819845	819845	Human	2	name
156413634	CV1901020	single nucleotide variant	NM_020376.4(PNPLA2):c.131A>G (p.Tyr44Cys)	Neutral lipid storage myopathy [RCV002588222]	uncertain significance	11	819849	819849	Human	1	name
156371399	CV1923583	single nucleotide variant	NM_020376.4(PNPLA2):c.1191G>A (p.Val397=)	Neutral lipid storage myopathy [RCV002633417]	likely benign	11	824538	824538	Human	1	name
156320310	CV1966052	single nucleotide variant	NM_020376.4(PNPLA2):c.283C>T (p.Arg95Cys)	Inborn genetic diseases [RCV004064586]\|Neutral lipid storage myopathy [RCV002600187]	uncertain significance	11	821723	821723	Human	2	name
156168774	CV1971648	single nucleotide variant	NM_020376.4(PNPLA2):c.1413C>G (p.Pro471=)	Neutral lipid storage myopathy [RCV002594707]	likely benign	11	824760	824760	Human	1	name
155990610	CV1990477	single nucleotide variant	NM_020376.4(PNPLA2):c.1302C>T (p.Ala434=)	Neutral lipid storage myopathy [RCV002618004]	likely benign	11	824649	824649	Human	1	name
156278049	CV2011382	single nucleotide variant	NM_020376.4(PNPLA2):c.1464G>A (p.Leu488=)	Neutral lipid storage myopathy [RCV002715203]	likely benign	11	824811	824811	Human	1	name
156122303	CV2039923	single nucleotide variant	NM_020376.4(PNPLA2):c.1128C>T (p.Tyr376=)	Neutral lipid storage myopathy [RCV002785839]	likely benign	11	824389	824389	Human	1	name
156229669	CV2048617	single nucleotide variant	NM_020376.4(PNPLA2):c.1074C>T (p.Asp358=)	Neutral lipid storage myopathy [RCV002790948]	likely benign	11	824335	824335	Human	1	name
155998956	CV2057307	single nucleotide variant	NM_020376.4(PNPLA2):c.1227G>A (p.Pro409=)	Neutral lipid storage myopathy [RCV002819555]	likely benign	11	824574	824574	Human	1	name
155958081	CV2066545	single nucleotide variant	NM_020376.4(PNPLA2):c.1203C>T (p.Arg401=)	Neutral lipid storage myopathy [RCV002816630]	likely benign	11	824550	824550	Human	1	name
155932451	CV2096157	single nucleotide variant	NM_020376.4(PNPLA2):c.1375C>T (p.Leu459=)	Neutral lipid storage myopathy [RCV002903905]	likely benign	11	824722	824722	Human	1	name
156309681	CV2109454	single nucleotide variant	NM_020376.4(PNPLA2):c.1338C>T (p.Gly446=)	Neutral lipid storage myopathy [RCV002922999]	likely benign	11	824685	824685	Human	1	name
156213364	CV2110790	single nucleotide variant	NM_020376.4(PNPLA2):c.1212G>A (p.Ser404=)	Neutral lipid storage myopathy [RCV002918255]	likely benign	11	824559	824559	Human	1	name
156113751	CV2154355	single nucleotide variant	NM_020376.4(PNPLA2):c.1122C>T (p.Cys374=)	Neutral lipid storage myopathy [RCV003021519]	likely benign	11	824383	824383	Human	1	name
156222431	CV2173353	single nucleotide variant	NM_020376.4(PNPLA2):c.1365G>T (p.Pro455=)	Neutral lipid storage myopathy [RCV003025247]	likely benign	11	824712	824712	Human	1	name
156244507	CV2187304	single nucleotide variant	NM_020376.4(PNPLA2):c.226G>A (p.Ala76Thr)	Neutral lipid storage myopathy [RCV003059779]	uncertain significance	11	821666	821666	Human	1	name
243059593	CV2413425	single nucleotide variant	NM_020376.4(PNPLA2):c.260C>T (p.Ser87Phe)	Neutral lipid storage myopathy [RCV003135059]	uncertain significance	11	821700	821700	Human	1	name
243059594	CV2413426	single nucleotide variant	NM_020376.4(PNPLA2):c.229C>T (p.Arg77Trp)	Neutral lipid storage myopathy [RCV003135060]	uncertain significance	11	821669	821669	Human	1	name
243059603	CV2413432	single nucleotide variant	NM_020376.4(PNPLA2):c.279C>G (p.Ile93Met)	Neutral lipid storage myopathy [RCV003135065]	uncertain significance	11	821719	821719	Human	1	name
11548647	CV254351	single nucleotide variant	NM_020376.4(PNPLA2):c.1149G>A (p.Arg383=)	Neutral lipid storage myopathy [RCV000292101]\|not provided [RCV001706355]\|not specified [RCV000249362]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	824410	824410	Human	2	name
11548647	CV254351	single nucleotide variant	NM_020376.4(PNPLA2):c.1149G>A (p.Arg383=)	Neutral lipid storage myopathy [RCV000292101]\|not provided [RCV001706355]\|not specified [RCV000249362]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	824410	824411	Human	2	name
11552113	CV254352	single nucleotide variant	NM_020376.4(PNPLA2):c.1167G>T (p.Leu389=)	Neutral lipid storage myopathy [RCV000325948]\|not provided [RCV001651239]\|not specified [RCV000253941]	benign	11	824428	824428	Human	1	name
11546856	CV254358	single nucleotide variant	NM_020376.4(PNPLA2):c.1458C>T (p.Pro486=)	Neutral lipid storage myopathy [RCV000408396]\|not provided [RCV000831839]\|not specified [RCV000247006]	benign	11	824805	824805	Human	4	name
11546856	CV254358	single nucleotide variant	NM_020376.4(PNPLA2):c.1458C>T (p.Pro486=)	Neutral lipid storage myopathy [RCV000408396]\|not provided [RCV000831839]\|not specified [RCV000247006]	benign	11	824805	824806	Human	4	name
401907814	CV2806412	single nucleotide variant	NM_020376.4(PNPLA2):c.1335C>G (p.Leu445=)	Neutral lipid storage myopathy [RCV003778376]\|not provided [RCV003422925]	likely benign	11	824682	824682	Human	1	name
405108779	CV2874159	single nucleotide variant	NM_020376.4(PNPLA2):c.1041C>T (p.Ser347=)	Neutral lipid storage myopathy [RCV003498884]	likely benign	11	824119	824119	Human	1	name
405115247	CV2894075	single nucleotide variant	NM_020376.4(PNPLA2):c.1404T>C (p.Ala468=)	Neutral lipid storage myopathy [RCV003499857]	likely benign	11	824751	824751	Human	1	name
405027144	CV2964044	single nucleotide variant	NM_020376.4(PNPLA2):c.1446C>T (p.Ala482=)	Neutral lipid storage myopathy [RCV003601452]	likely benign	11	824793	824793	Human	1	name
405022241	CV3049028	single nucleotide variant	NM_020376.4(PNPLA2):c.1395C>G (p.Ala465=)	Neutral lipid storage myopathy [RCV003600990]	likely benign	11	824742	824742	Human	1	name
405023226	CV3061027	single nucleotide variant	NM_020376.4(PNPLA2):c.245G>A (p.Gly82Asp)	Neutral lipid storage myopathy [RCV003601109]	pathogenic\|likely pathogenic	11	821685	821685	Human	1	name
405033504	CV3079169	single nucleotide variant	NM_020376.4(PNPLA2):c.1413C>A (p.Pro471=)	Neutral lipid storage myopathy [RCV003601879]	likely benign	11	824760	824760	Human	1	name
405168271	CV3149809	single nucleotide variant	NM_020376.4(PNPLA2):c.182G>T (p.Cys61Phe)	Neutral lipid storage myopathy [RCV003841280]	uncertain significance	11	819900	819900	Human	1	name
405243979	CV3161077	single nucleotide variant	NM_020376.4(PNPLA2):c.1278C>T (p.Asn426=)	Neutral lipid storage myopathy [RCV003867986]	likely benign	11	824625	824625	Human	1	name
596925597	CV3542064	deletion	NM_020376.4(PNPLA2):c.907del (p.Arg303fs)	Neutral lipid storage myopathy [RCV004795780]	likely pathogenic	11	823841	823841	Human	1	name
597692030	CV3590663	single nucleotide variant	NM_020376.4(PNPLA2):c.164C>T (p.Ala55Val)	Inborn genetic diseases [RCV004954290]	uncertain significance	11	819882	819882	Human	1	name
597939408	CV3788532	deletion	NM_020376.4(PNPLA2):c.875del (p.Gly292fs)	Neutral lipid storage myopathy [RCV005133207]	pathogenic	11	823810	823810	Human	1	name
597903180	CV3835879	single nucleotide variant	NM_020376.4(PNPLA2):c.1434G>A (p.Gln478=)	Neutral lipid storage myopathy [RCV005181414]	likely benign	11	824781	824781	Human	1	name
597925682	CV3840031	single nucleotide variant	NM_020376.4(PNPLA2):c.1374T>G (p.Ala458=)	Neutral lipid storage myopathy [RCV005184770]	likely benign	11	824721	824721	Human	1	name
597944611	CV3847924	single nucleotide variant	NM_020376.4(PNPLA2):c.1287G>A (p.Leu429=)	Neutral lipid storage myopathy [RCV005188654]	likely benign	11	824634	824634	Human	1	name
597949445	CV3848770	single nucleotide variant	NM_020376.4(PNPLA2):c.1209G>A (p.Gln403=)	Neutral lipid storage myopathy [RCV005189707]	likely benign	11	824556	824556	Human	1	name
597860372	CV3860033	single nucleotide variant	NM_020376.4(PNPLA2):c.132C>G (p.Tyr44Ter)	Neutral lipid storage myopathy [RCV005195762]	pathogenic	11	819850	819850	Human	1	name
13481218	CV461474	single nucleotide variant	NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln)	Neutral lipid storage myopathy [RCV000528874]	conflicting interpretations of pathogenicity\|uncertain significance	11	821676	821676	Human	1	name
13466610	CV461682	single nucleotide variant	NM_020376.4(PNPLA2):c.128T>G (p.Ile43Ser)	Neutral lipid storage myopathy [RCV000543540]	uncertain significance	11	819846	819846	Human	1	name
13479307	CV462008	single nucleotide variant	NM_020376.4(PNPLA2):c.235C>T (p.Arg79Trp)	Inborn genetic diseases [RCV002525304]\|Neutral lipid storage myopathy [RCV000550462]	uncertain significance	11	821675	821675	Human	2	name
8570687	CV48467	deletion	NM_020376.4(PNPLA2):c.467del (p.Pro156fs)	Neutral lipid storage myopathy [RCV000033095]	pathogenic	11	822002	822002	Human	1	name
13611059	CV526503	single nucleotide variant	NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=)	Neutral lipid storage myopathy [RCV000641669]	likely benign\|conflicting interpretations of pathogenicity	11	824838	824838	Human	1	name
13611038	CV526791	single nucleotide variant	NM_020376.4(PNPLA2):c.256C>T (p.Pro86Ser)	Neutral lipid storage myopathy [RCV000641661]	uncertain significance	11	821696	821696	Human	1	name
13806588	CV567558	single nucleotide variant	NM_020376.4(PNPLA2):c.122C>A (p.Thr41Lys)	Neutral lipid storage myopathy [RCV000686320]	uncertain significance	11	819840	819840	Human	1	name
13815203	CV571010	single nucleotide variant	NM_020376.4(PNPLA2):c.291C>A (p.Phe97Leu)	Neutral lipid storage myopathy [RCV000705552]	uncertain significance	11	821731	821731	Human	1	name
14728352	CV640480	single nucleotide variant	NM_020376.4(PNPLA2):c.178G>A (p.Val60Ile)	Neutral lipid storage myopathy [RCV000816479]	uncertain significance	11	819896	819896	Human	1	name
14707312	CV640487	single nucleotide variant	NM_020376.4(PNPLA2):c.1395C>A (p.Ala465=)	Neutral lipid storage myopathy [RCV000792288]	likely benign\|uncertain significance	11	824742	824742	Human	1	name
15142766	CV713220	single nucleotide variant	NM_020376.4(PNPLA2):c.1368C>T (p.Pro456=)	Neutral lipid storage myopathy [RCV001407325]	likely benign	11	824715	824715	Human	1	name
15141172	CV753004	single nucleotide variant	NM_020376.4(PNPLA2):c.1260C>T (p.Pro420=)	Inborn genetic diseases [RCV005392550]\|Neutral lipid storage myopathy [RCV001466275]	likely benign	11	824607	824607	Human	2	name
15195322	CV753005	single nucleotide variant	NM_020376.4(PNPLA2):c.1419C>T (p.Asp473=)	Neutral lipid storage myopathy [RCV000911382]	likely benign	11	824766	824766	Human	1	name
8573216	CV76349	duplication	NM_020376.4(PNPLA2):c.613dup (p.Leu205fs)	Inborn genetic diseases [RCV000624438]\|Neutral lipid storage myopathy [RCV000055641]\|not provided [RCV001091425]	pathogenic	11	822522	822523	Human	2	name
8573217	CV76350	deletion	NM_020376.4(PNPLA2):c.543del (p.Ile182fs)	Neutral lipid storage myopathy [RCV000055642]	pathogenic	11	822452	822452	Human	1	name
15172206	CV768817	single nucleotide variant	NM_020376.4(PNPLA2):c.1101G>A (p.Lys367=)	Neutral lipid storage myopathy [RCV000928064]	likely benign	11	824362	824362	Human	1	name
15187483	CV768818	single nucleotide variant	NM_020376.4(PNPLA2):c.1194G>A (p.Glu398=)	Neutral lipid storage myopathy [RCV001413157]	likely benign	11	824541	824541	Human	1	name
15187952	CV768819	single nucleotide variant	NM_020376.4(PNPLA2):c.1248A>G (p.Arg416=)	Neutral lipid storage myopathy [RCV001419372]	likely benign	11	824595	824595	Human	1	name
15187491	CV768820	single nucleotide variant	NM_020376.4(PNPLA2):c.1320G>A (p.Gln440=)	Neutral lipid storage myopathy [RCV000931673]	likely benign	11	824667	824667	Human	1	name
15102095	CV784232	single nucleotide variant	NM_020376.4(PNPLA2):c.1047C>T (p.Thr349=)	Neutral lipid storage myopathy [RCV001494004]	likely benign	11	824125	824125	Human	1	name
15127400	CV784233	single nucleotide variant	NM_020376.4(PNPLA2):c.1161G>A (p.Arg387=)	not provided [RCV000980540]	likely benign	11	824422	824422	Human		name
15136512	CV784234	single nucleotide variant	NM_020376.4(PNPLA2):c.1392C>T (p.Pro464=)	Neutral lipid storage myopathy [RCV001418026]	likely benign	11	824739	824739	Human	1	name
26918267	CV839116	single nucleotide variant	NM_020376.4(PNPLA2):c.230G>A (p.Arg77Gln)	Neutral lipid storage myopathy [RCV001057710]	uncertain significance	11	821670	821670	Human	1	name
28883486	CV859916	deletion	NM_020376.4(PNPLA2):c.799del (p.Ala267fs)	not provided [RCV001091426]	pathogenic	11	823735	823735	Human		name
38474157	CV926405	duplication	NM_020376.4(PNPLA2):c.798dup (p.Ala267fs)	Neutral lipid storage myopathy [RCV001214622]\|not provided [RCV005411678]	pathogenic	11	823728	823729	Human	1	name
126753962	CV1010032	single nucleotide variant	NM_020376.4(PNPLA2):c.480G>C (p.Gln160His)	Neutral lipid storage myopathy [RCV001327402]	uncertain significance	11	822017	822017	Human	1	name
126743987	CV1010033	single nucleotide variant	NM_020376.4(PNPLA2):c.704G>A (p.Arg235Gln)	Neutral lipid storage myopathy [RCV001325700]	uncertain significance	11	823534	823534	Human	1	name
126764185	CV1010035	single nucleotide variant	NM_020376.4(PNPLA2):c.914A>G (p.Asn305Ser)	Neutral lipid storage myopathy [RCV001319537]	uncertain significance	11	823850	823850	Human	1	name
126744570	CV1030574	single nucleotide variant	NM_020376.4(PNPLA2):c.649C>A (p.Arg217Ser)	Neutral lipid storage myopathy [RCV001351297]	uncertain significance	11	822559	822559	Human	1	name
126738276	CV1030575	single nucleotide variant	NM_020376.4(PNPLA2):c.681C>G (p.Phe227Leu)	Neutral lipid storage myopathy [RCV001350456]	uncertain significance	11	822591	822591	Human	1	name
126748958	CV1030576	single nucleotide variant	NM_020376.4(PNPLA2):c.908G>A (p.Arg303Gln)	Neutral lipid storage myopathy [RCV001337755]	uncertain significance	11	823844	823844	Human	1	name
126920422	CV1047580	single nucleotide variant	NM_020376.4(PNPLA2):c.409G>A (p.Glu137Lys)	Neutral lipid storage myopathy [RCV001362867]	uncertain significance	11	821849	821849	Human	1	name
151349090	CV1170271	duplication	NM_020376.4(PNPLA2):c.1343dup (p.Cys449fs)	Abnormality of the musculature [RCV001814421]	likely pathogenic	11	824688	824689	Human	1	name
151771873	CV1346268	single nucleotide variant	NM_020376.4(PNPLA2):c.320A>G (p.His107Arg)	Neutral lipid storage myopathy [RCV001950236]	uncertain significance	11	821760	821760	Human	1	name
151852777	CV1349120	single nucleotide variant	NM_020376.4(PNPLA2):c.826G>A (p.Asp276Asn)	Neutral lipid storage myopathy [RCV001923017]	uncertain significance	11	823762	823762	Human	1	name
151758725	CV1349876	single nucleotide variant	NM_020376.4(PNPLA2):c.815C>G (p.Pro272Arg)	Neutral lipid storage myopathy [RCV001987014]\|PNPLA2-related disorder [RCV003402027]	uncertain significance	11	823751	823751	Human	2	name , trait , alternate_id
151712142	CV1374463	single nucleotide variant	NM_020376.4(PNPLA2):c.944C>G (p.Pro315Arg)	Neutral lipid storage myopathy [RCV001908232]	uncertain significance	11	824022	824022	Human	1	name
151843210	CV1379847	single nucleotide variant	NM_020376.4(PNPLA2):c.973A>C (p.Met325Leu)	Inborn genetic diseases [RCV002560601]\|Neutral lipid storage myopathy [RCV001936370]	uncertain significance	11	824051	824051	Human	2	name
151882512	CV1398977	single nucleotide variant	NM_020376.4(PNPLA2):c.358C>T (p.Arg120Cys)	Neutral lipid storage myopathy [RCV001961936]	uncertain significance	11	821798	821798	Human	1	name
151772926	CV1401272	single nucleotide variant	NM_020376.4(PNPLA2):c.851C>G (p.Ala284Gly)	Neutral lipid storage myopathy [RCV002025536]	uncertain significance	11	823787	823787	Human	1	name
151772480	CV1402683	single nucleotide variant	NM_020376.4(PNPLA2):c.856G>A (p.Asp286Asn)	Neutral lipid storage myopathy [RCV001896477]\|not provided [RCV004793575]	uncertain significance	11	823792	823792	Human	1	name
151859676	CV1403694	single nucleotide variant	NM_020376.4(PNPLA2):c.359G>A (p.Arg120His)	Inborn genetic diseases [RCV004955974]\|Neutral lipid storage myopathy [RCV001979964]	uncertain significance	11	821799	821799	Human	2	name
151738909	CV1428921	single nucleotide variant	NM_020376.4(PNPLA2):c.524T>A (p.Leu175His)	Neutral lipid storage myopathy [RCV002022125]	uncertain significance	11	822434	822434	Human	1	name
151875482	CV1461252	single nucleotide variant	NM_020376.4(PNPLA2):c.992C>T (p.Ala331Val)	Neutral lipid storage myopathy [RCV001925764]\|not provided [RCV004697161]	uncertain significance	11	824070	824070	Human	1	name
151770986	CV1465109	single nucleotide variant	NM_020376.4(PNPLA2):c.448G>T (p.Val150Leu)	Neutral lipid storage myopathy [RCV002025353]	uncertain significance	11	821985	821985	Human	1	name
151834149	CV1489027	single nucleotide variant	NM_020376.4(PNPLA2):c.662G>A (p.Arg221His)	Neutral lipid storage myopathy [RCV001902106]\|not provided [RCV002243477]	uncertain significance	11	822572	822572	Human	1	name
151819645	CV1490526	single nucleotide variant	NM_020376.4(PNPLA2):c.470C>T (p.Pro157Leu)	Neutral lipid storage myopathy [RCV001992642]	uncertain significance	11	822007	822007	Human	1	name
151715112	CV1492922	single nucleotide variant	NM_020376.4(PNPLA2):c.437G>T (p.Gly146Val)	Neutral lipid storage myopathy [RCV001890175]	uncertain significance	11	821974	821974	Human	1	name
151839598	CV1492953	single nucleotide variant	NM_020376.4(PNPLA2):c.385A>G (p.Ile129Val)	Neutral lipid storage myopathy [RCV001881181]	uncertain significance	11	821825	821825	Human	1	name
151864159	CV1498689	single nucleotide variant	NM_020376.4(PNPLA2):c.449T>G (p.Val150Gly)	Neutral lipid storage myopathy [RCV001980513]	uncertain significance	11	821986	821986	Human	1	name
151773136	CV1502221	single nucleotide variant	NM_020376.4(PNPLA2):c.890T>C (p.Leu297Pro)	Neutral lipid storage myopathy [RCV001929725]	uncertain significance	11	823826	823826	Human	1	name
151843030	CV1514552	single nucleotide variant	NM_020376.4(PNPLA2):c.568G>A (p.Glu190Lys)	Neutral lipid storage myopathy [RCV001956987]	uncertain significance	11	822478	822478	Human	1	name
8556519	CV16913	single nucleotide variant	NM_020376.4(PNPLA2):c.584C>T (p.Pro195Leu)	Neutral lipid storage myopathy [RCV000001951]	pathogenic	11	822494	822494	Human	1	name
8556521	CV16915	single nucleotide variant	NM_020376.4(PNPLA2):c.865C>T (p.Gln289Ter)	Neutral lipid storage myopathy [RCV000001953]	pathogenic	11	823801	823801	Human	1	name
155727226	CV1773736	single nucleotide variant	NM_020376.4(PNPLA2):c.749A>G (p.Gln250Arg)	Neutral lipid storage myopathy [RCV002301514]	uncertain significance	11	823579	823579	Human	1	name
155734610	CV1774410	single nucleotide variant	NM_020376.4(PNPLA2):c.886A>G (p.Ile296Val)	Neutral lipid storage myopathy [RCV002301866]	uncertain significance	11	823822	823822	Human	1	name
155708538	CV1775691	single nucleotide variant	NM_020376.4(PNPLA2):c.799G>A (p.Ala267Thr)	Neutral lipid storage myopathy [RCV002296087]	uncertain significance	11	823735	823735	Human	1	name
156308397	CV1877950	single nucleotide variant	NM_020376.4(PNPLA2):c.497A>G (p.Asp166Gly)	Neutral lipid storage myopathy [RCV003062309]\|not provided [RCV004719289]	likely pathogenic\|uncertain significance	11	822407	822407	Human	1	name
156308414	CV1877951	single nucleotide variant	NM_020376.4(PNPLA2):c.778C>G (p.Pro260Ala)	Neutral lipid storage myopathy [RCV003062310]	uncertain significance	11	823714	823714	Human	1	name
156406817	CV1891369	single nucleotide variant	NM_020376.4(PNPLA2):c.785T>G (p.Leu262Arg)	Inborn genetic diseases [RCV005399099]\|Neutral lipid storage myopathy [RCV003070509]	uncertain significance	11	823721	823721	Human	2	name
156194471	CV1900553	single nucleotide variant	NM_020376.4(PNPLA2):c.947C>T (p.Thr316Met)	Neutral lipid storage myopathy [RCV002574522]	uncertain significance	11	824025	824025	Human	1	name
156200779	CV1915555	single nucleotide variant	NM_020376.4(PNPLA2):c.918G>C (p.Glu306Asp)	Neutral lipid storage myopathy [RCV002643625]	uncertain significance	11	823854	823854	Human	1	name
156414032	CV1915616	single nucleotide variant	NM_020376.4(PNPLA2):c.875G>A (p.Gly292Glu)	Inborn genetic diseases [RCV003269473]\|Neutral lipid storage myopathy [RCV002588365]	uncertain significance	11	823811	823811	Human	2	name
156131924	CV1962750	single nucleotide variant	NM_020376.4(PNPLA2):c.686C>T (p.Pro229Leu)	Neutral lipid storage myopathy [RCV002572264]	uncertain significance	11	822596	822596	Human	1	name
155972433	CV1978564	single nucleotide variant	NM_020376.4(PNPLA2):c.650G>T (p.Arg217Leu)	Neutral lipid storage myopathy [RCV002617242]	uncertain significance	11	822560	822560	Human	1	name
156363771	CV2003404	single nucleotide variant	NM_020376.4(PNPLA2):c.968C>G (p.Ser323Cys)	Neutral lipid storage myopathy [RCV002676420]	uncertain significance	11	824046	824046	Human	1	name
156396289	CV2012342	single nucleotide variant	NM_020376.4(PNPLA2):c.448G>C (p.Val150Leu)	Neutral lipid storage myopathy [RCV002725577]	uncertain significance	11	821985	821985	Human	1	name
155904307	CV2031326	single nucleotide variant	NM_020376.4(PNPLA2):c.770G>A (p.Arg257Gln)	Neutral lipid storage myopathy [RCV002726374]	uncertain significance	11	823706	823706	Human	1	name
156069884	CV2032560	single nucleotide variant	NM_020376.4(PNPLA2):c.341T>C (p.Leu114Pro)	Neutral lipid storage myopathy [RCV002760288]	uncertain significance	11	821781	821781	Human	1	name
156009133	CV2051303	single nucleotide variant	NM_020376.4(PNPLA2):c.769C>T (p.Arg257Trp)	Neutral lipid storage myopathy [RCV002820027]	uncertain significance	11	823705	823705	Human	1	name
155934671	CV2064363	duplication	NM_020376.4(PNPLA2):c.1120dup (p.Cys374fs)	Neutral lipid storage myopathy [RCV002861349]	uncertain significance	11	824380	824381	Human	1	name
155990120	CV2066761	single nucleotide variant	NM_020376.4(PNPLA2):c.883C>G (p.His295Asp)	Neutral lipid storage myopathy [RCV002842923]	uncertain significance	11	823819	823819	Human	1	name
156312342	CV2107622	single nucleotide variant	NM_020376.4(PNPLA2):c.727C>T (p.Arg243Trp)	Neutral lipid storage myopathy [RCV002937245]	uncertain significance	11	823557	823557	Human	1	name
156209956	CV2114356	single nucleotide variant	NM_020376.4(PNPLA2):c.493G>A (p.Val165Met)	Neutral lipid storage myopathy [RCV002932020]	uncertain significance	11	822403	822403	Human	1	name
156036827	CV2119957	single nucleotide variant	NM_020376.4(PNPLA2):c.370G>A (p.Gly124Ser)	Neutral lipid storage myopathy [RCV002949460]\|PNPLA2-related disorder [RCV003427533]	uncertain significance	11	821810	821810	Human	2	name , trait , alternate_id
156229728	CV2121982	single nucleotide variant	NM_020376.4(PNPLA2):c.389C>A (p.Ser130Tyr)	Neutral lipid storage myopathy [RCV002958462]	uncertain significance	11	821829	821829	Human	1	name
155934820	CV2129441	single nucleotide variant	NM_020376.4(PNPLA2):c.866A>G (p.Gln289Arg)	Neutral lipid storage myopathy [RCV002970863]	uncertain significance	11	823802	823802	Human	1	name
156017779	CV2151422	single nucleotide variant	NM_020376.4(PNPLA2):c.908G>C (p.Arg303Pro)	Neutral lipid storage myopathy [RCV003018078]	uncertain significance	11	823844	823844	Human	1	name
156177522	CV2181558	single nucleotide variant	NM_020376.4(PNPLA2):c.937G>A (p.Val313Met)	Neutral lipid storage myopathy [RCV003057421]	uncertain significance	11	824015	824015	Human	1	name
156141424	CV2191909	single nucleotide variant	NM_020376.4(PNPLA2):c.578T>C (p.Ile193Thr)	Neutral lipid storage myopathy [RCV003056199]	uncertain significance	11	822488	822488	Human	1	name
155985762	CV2282398	single nucleotide variant	NM_020376.4(PNPLA2):c.488G>A (p.Arg163His)	Inborn genetic diseases [RCV002864065]	uncertain significance	11	822398	822398	Human	1	name
156187910	CV2292500	single nucleotide variant	NM_020376.4(PNPLA2):c.822C>G (p.Asp274Glu)	Inborn genetic diseases [RCV002874062]	likely benign	11	823758	823758	Human	1	name
156173911	CV2326833	single nucleotide variant	NM_020376.4(PNPLA2):c.752G>C (p.Arg251Pro)	Inborn genetic diseases [RCV002916713]	uncertain significance	11	823582	823582	Human	1	name
243059596	CV2413428	single nucleotide variant	NM_020376.4(PNPLA2):c.542C>T (p.Thr181Ile)	Neutral lipid storage myopathy [RCV003135062]	uncertain significance	11	822452	822452	Human	1	name
243059597	CV2413429	single nucleotide variant	NM_020376.4(PNPLA2):c.467C>T (p.Pro156Leu)	Neutral lipid storage myopathy [RCV003135063]	uncertain significance	11	822004	822004	Human	1	name
243050544	CV2413433	single nucleotide variant	NM_020376.4(PNPLA2):c.975G>A (p.Met325Ile)	Neutral lipid storage myopathy [RCV003130282]	uncertain significance	11	824053	824053	Human	1	name
243059602	CV2413434	single nucleotide variant	NM_020376.4(PNPLA2):c.982G>T (p.Val328Leu)	Neutral lipid storage myopathy [RCV003135066]	uncertain significance	11	824060	824060	Human	1	name
243050547	CV2413436	single nucleotide variant	NM_020376.4(PNPLA2):c.665T>C (p.Leu222Pro)	Neutral lipid storage myopathy [RCV003130283]	uncertain significance	11	822575	822575	Human	1	name
11526083	CV247067	single nucleotide variant	NM_020376.4(PNPLA2):c.793C>T (p.Pro265Ser)	Neutral lipid storage myopathy [RCV000301248]\|not provided [RCV001723828]\|not specified [RCV000239314]	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	11	823729	823729	Human	1	name
11545027	CV254346	single nucleotide variant	NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys)	Neutral lipid storage myopathy [RCV000543501]\|not provided [RCV001722337]\|not specified [RCV000244582]	benign\|likely benign	11	823586	823586	Human	23	name
11551873	CV254350	single nucleotide variant	NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser)	Neutral lipid storage myopathy [RCV001442562]\|not provided [RCV003422179]\|not specified [RCV000253618]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	824021	824021	Human	1	name
401767866	CV2677842	single nucleotide variant	NM_020376.4(PNPLA2):c.697G>A (p.Val233Met)	Inborn genetic diseases [RCV003259950]	uncertain significance	11	823527	823527	Human	1	name
401863325	CV2776805	single nucleotide variant	NM_020376.4(PNPLA2):c.808C>A (p.His270Asn)	Inborn genetic diseases [RCV003378508]	uncertain significance	11	823744	823744	Human	1	name
401961834	CV2844156	single nucleotide variant	NM_020376.4(PNPLA2):c.322G>A (p.Glu108Lys)	not provided [RCV003481997]	uncertain significance	11	821762	821762	Human		name
405103772	CV2895853	single nucleotide variant	NM_020376.4(PNPLA2):c.824A>G (p.Lys275Arg)	Neutral lipid storage myopathy [RCV003497481]	uncertain significance	11	823760	823760	Human	1	name
405021661	CV3048722	single nucleotide variant	NM_020376.4(PNPLA2):c.739C>T (p.Arg247Cys)	Neutral lipid storage myopathy [RCV003600960]	uncertain significance	11	823569	823569	Human	1	name
11659021	CV315344	single nucleotide variant	NM_020376.4(PNPLA2):c.826G>C (p.Asp276His)	Neutral lipid storage myopathy [RCV000353802]	uncertain significance	11	823762	823762	Human	1	name
11610582	CV322205	single nucleotide variant	NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe)	Neutral lipid storage myopathy [RCV000383623]\|not provided [RCV001836764]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	824042	824042	Human	1	name
11624381	CV328267	single nucleotide variant	NM_020376.4(PNPLA2):c.326A>G (p.His109Arg)	Neutral lipid storage myopathy [RCV000385511]\|not provided [RCV004693068]	conflicting interpretations of pathogenicity\|uncertain significance	11	821766	821766	Human	1	name
11652488	CV329603	single nucleotide variant	NM_020376.4(PNPLA2):c.683C>T (p.Pro228Leu)	Neutral lipid storage myopathy [RCV000305234]\|not provided [RCV003480588]	uncertain significance	11	822593	822593	Human	1	name
405657989	CV3376628	single nucleotide variant	NM_020376.4(PNPLA2):c.400T>C (p.Ser134Pro)	Inborn genetic diseases [RCV004511927]	uncertain significance	11	821840	821840	Human	1	name
405657993	CV3376629	single nucleotide variant	NM_020376.4(PNPLA2):c.904G>A (p.Ala302Thr)	Inborn genetic diseases [RCV004511928]	uncertain significance	11	823840	823840	Human	1	name
407524130	CV3463844	single nucleotide variant	NM_020376.4(PNPLA2):c.361G>A (p.Val121Met)	Inborn genetic diseases [RCV004653570]	uncertain significance	11	821801	821801	Human	1	name
408381704	CV3526573	single nucleotide variant	NM_020376.4(PNPLA2):c.989T>C (p.Leu330Pro)	not provided [RCV004771886]	uncertain significance	11	824067	824067	Human		name
597692024	CV3590662	single nucleotide variant	NM_020376.4(PNPLA2):c.563C>T (p.Ser188Leu)	Inborn genetic diseases [RCV004954289]	uncertain significance	11	822473	822473	Human	1	name
597903973	CV3856282	single nucleotide variant	NM_020376.4(PNPLA2):c.616C>T (p.Arg206Trp)	Neutral lipid storage myopathy [RCV005202510]	uncertain significance	11	822526	822526	Human	1	name
597892823	CV3856782	deletion	NM_020376.4(PNPLA2):c.1051del (p.Arg351fs)	Neutral lipid storage myopathy [RCV005200851]	pathogenic\|likely pathogenic	11	824128	824128	Human	1	name
598187727	CV4003530	single nucleotide variant	NM_020376.4(PNPLA2):c.791T>C (p.Leu264Ser)	Inborn genetic diseases [RCV005395964]	uncertain significance	11	823727	823727	Human	1	name
598187740	CV4003532	single nucleotide variant	NM_020376.4(PNPLA2):c.635T>C (p.Ile212Thr)	Inborn genetic diseases [RCV005395966]	uncertain significance	11	822545	822545	Human	1	name
13504174	CV461485	single nucleotide variant	NM_020376.4(PNPLA2):c.953T>C (p.Leu318Pro)	Inborn genetic diseases [RCV003278895]\|Neutral lipid storage myopathy [RCV000524766]	uncertain significance	11	824031	824031	Human	2	name
13485246	CV461684	single nucleotide variant	NM_020376.4(PNPLA2):c.425A>G (p.Asn142Ser)	Inborn genetic diseases [RCV002528403]\|Neutral lipid storage myopathy [RCV000530684]	uncertain significance	11	821962	821962	Human	2	name
13482321	CV461686	single nucleotide variant	NM_020376.4(PNPLA2):c.863C>G (p.Ser288Trp)	Neutral lipid storage myopathy [RCV000551812]	benign	11	823799	823799	Human	1	name
13493480	CV461687	single nucleotide variant	NM_020376.4(PNPLA2):c.907C>G (p.Arg303Gly)	Inborn genetic diseases [RCV003278894]\|Neutral lipid storage myopathy [RCV000535714]	uncertain significance	11	823843	823843	Human	2	name
13484095	CV462311	single nucleotide variant	NM_020376.4(PNPLA2):c.338G>A (p.Arg113His)	Neutral lipid storage myopathy [RCV000552603]\|not provided [RCV004691879]	uncertain significance	11	821778	821778	Human	1	name
13494396	CV462316	single nucleotide variant	NM_020376.4(PNPLA2):c.711G>A (p.Met237Ile)	Neutral lipid storage myopathy [RCV000558880]	uncertain significance	11	823541	823541	Human	1	name
13496436	CV462322	single nucleotide variant	NM_020376.4(PNPLA2):c.752G>A (p.Arg251Gln)	Inborn genetic diseases [RCV004955639]\|Neutral lipid storage myopathy [RCV000537853]	uncertain significance	11	823582	823582	Human	2	name
8570685	CV48465	single nucleotide variant	NM_020376.4(PNPLA2):c.749A>C (p.Gln250Pro)	Neutral lipid storage myopathy [RCV000033093]	pathogenic	11	823579	823579	Human	1	name
13611042	CV526547	single nucleotide variant	NM_020376.4(PNPLA2):c.661C>T (p.Arg221Cys)	Neutral lipid storage myopathy [RCV000641663]	uncertain significance	11	822571	822571	Human	1	name
13611040	CV527074	single nucleotide variant	NM_020376.4(PNPLA2):c.337C>T (p.Arg113Cys)	Neutral lipid storage myopathy [RCV000641662]	uncertain significance	11	821777	821777	Human	1	name
13611050	CV527076	single nucleotide variant	NM_020376.4(PNPLA2):c.527A>G (p.Tyr176Cys)	Inborn genetic diseases [RCV004025622]\|Neutral lipid storage myopathy [RCV000641666]	uncertain significance	11	822437	822437	Human	2	name
13806936	CV564917	single nucleotide variant	NM_020376.4(PNPLA2):c.844G>A (p.Ala282Thr)	Inborn genetic diseases [RCV004026236]\|Neutral lipid storage myopathy [RCV000686438]	uncertain significance	11	823780	823780	Human	2	name
13813269	CV564924	single nucleotide variant	NM_020376.4(PNPLA2):c.881A>G (p.Asp294Gly)	Neutral lipid storage myopathy [RCV000690037]	uncertain significance	11	823817	823817	Human	1	name
13809257	CV564926	deletion	NM_020376.4(PNPLA2):c.1043del (p.Phe348fs)	Neutral lipid storage myopathy [RCV000687677]	pathogenic	11	824120	824120	Human	1	name
13812092	CV566203	single nucleotide variant	NM_020376.4(PNPLA2):c.787G>A (p.Ala263Thr)	Neutral lipid storage myopathy [RCV000703476]\|not provided [RCV002259364]	uncertain significance	11	823723	823723	Human	1	name
13822046	CV567560	single nucleotide variant	NM_020376.4(PNPLA2):c.655C>T (p.Leu219Phe)	Neutral lipid storage myopathy [RCV000696744]	uncertain significance	11	822565	822565	Human	1	name
13816326	CV571023	single nucleotide variant	NM_020376.4(PNPLA2):c.628A>G (p.Thr210Ala)	Inborn genetic diseases [RCV005392295]\|Neutral lipid storage myopathy [RCV000692229]	uncertain significance	11	822538	822538	Human	2	name
13817570	CV571043	duplication	NM_020376.4(PNPLA2):c.1460dup (p.Leu487fs)	Neutral lipid storage myopathy [RCV000707102]	uncertain significance	11	824805	824806	Human	1	name
14732047	CV640481	single nucleotide variant	NM_020376.4(PNPLA2):c.401C>G (p.Ser134Cys)	Neutral lipid storage myopathy [RCV000801680]	uncertain significance	11	821841	821841	Human	1	name
14745252	CV640482	single nucleotide variant	NM_020376.4(PNPLA2):c.448G>A (p.Val150Met)	Inborn genetic diseases [RCV002536029]\|Neutral lipid storage myopathy [RCV000824590]	uncertain significance	11	821985	821985	Human	2	name
14740437	CV640483	single nucleotide variant	NM_020376.4(PNPLA2):c.662G>C (p.Arg221Pro)	Neutral lipid storage myopathy [RCV000821800]	pathogenic	11	822572	822572	Human	1	name
14725392	CV640484	single nucleotide variant	NM_020376.4(PNPLA2):c.871C>T (p.Pro291Ser)	Inborn genetic diseases [RCV002538005]\|Neutral lipid storage myopathy [RCV000798790]	uncertain significance	11	823807	823807	Human	2	name
15175529	CV713218	single nucleotide variant	NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu)	Neutral lipid storage myopathy [RCV000972971]	likely benign\|conflicting interpretations of pathogenicity	11	823742	823742	Human	1	name
26904541	CV839118	single nucleotide variant	NM_020376.4(PNPLA2):c.487C>T (p.Arg163Cys)	Inborn genetic diseases [RCV002553238]\|Neutral lipid storage myopathy [RCV001050885]\|not provided [RCV002265000]	uncertain significance	11	822397	822397	Human	2	name
26895372	CV839120	single nucleotide variant	NM_020376.4(PNPLA2):c.650G>A (p.Arg217His)	Neutral lipid storage myopathy [RCV001047876]	uncertain significance	11	822560	822560	Human	1	name
26887129	CV839122	single nucleotide variant	NM_020376.4(PNPLA2):c.779C>T (p.Pro260Leu)	Neutral lipid storage myopathy [RCV001044673]	uncertain significance	11	823715	823715	Human	1	name
26923553	CV839123	single nucleotide variant	NM_020376.4(PNPLA2):c.803G>A (p.Arg268His)	Inborn genetic diseases [RCV004030527]\|Neutral lipid storage myopathy [RCV001064202]	uncertain significance	11	823739	823739	Human	2	name
26886835	CV839124	single nucleotide variant	NM_020376.4(PNPLA2):c.874G>A (p.Gly292Arg)	Neutral lipid storage myopathy [RCV001066319]	uncertain significance	11	823810	823810	Human	1	name
26910383	CV839125	single nucleotide variant	NM_020376.4(PNPLA2):c.932C>T (p.Ala311Val)	Neutral lipid storage myopathy [RCV001038632]	uncertain significance	11	824010	824010	Human	1	name
26905348	CV839126	single nucleotide variant	NM_020376.4(PNPLA2):c.980C>T (p.Pro327Leu)	Neutral lipid storage myopathy [RCV001051249]	uncertain significance	11	824058	824058	Human	1	name
26885846	CV839134	deletion	NM_020376.4(PNPLA2):c.1353del (p.Asn451fs)	Neutral lipid storage myopathy [RCV001043798]	uncertain significance	11	824700	824700	Human	1	name
28911694	CV868873	single nucleotide variant	NM_020376.4(PNPLA2):c.407A>G (p.Asp136Gly)	Neutral lipid storage myopathy [RCV001111015]	uncertain significance	11	821847	821847	Human	1	name
28869196	CV868875	single nucleotide variant	NM_020376.4(PNPLA2):c.649C>T (p.Arg217Cys)	Neutral lipid storage myopathy [RCV001113010]	uncertain significance	11	822559	822559	Human	1	name
28911317	CV868877	single nucleotide variant	NM_020376.4(PNPLA2):c.962C>T (p.Thr321Ile)	Neutral lipid storage myopathy [RCV001110353]	uncertain significance	11	824040	824040	Human	1	name
38463459	CV919397	single nucleotide variant	NM_020376.4(PNPLA2):c.731A>G (p.Asp244Gly)	Neutral lipid storage myopathy [RCV001199048]	uncertain significance	11	823561	823561	Human	1	name
38487462	CV926403	single nucleotide variant	NM_020376.4(PNPLA2):c.617G>A (p.Arg206Gln)	Neutral lipid storage myopathy [RCV001220747]	uncertain significance	11	822527	822527	Human	1	name
38488242	CV926404	single nucleotide variant	NM_020376.4(PNPLA2):c.772C>T (p.Pro258Ser)	Neutral lipid storage myopathy [RCV001221124]	uncertain significance	11	823708	823708	Human	1	name
38477986	CV935835	single nucleotide variant	NM_020376.4(PNPLA2):c.353T>C (p.Leu118Pro)	Neutral lipid storage myopathy [RCV001205344]	uncertain significance	11	821793	821793	Human	1	name
38497785	CV947721	single nucleotide variant	NM_020376.4(PNPLA2):c.373G>A (p.Glu125Lys)	Neutral lipid storage myopathy [RCV001227314]\|not provided [RCV003334038]	uncertain significance	11	821813	821813	Human	1	name
38485284	CV947722	single nucleotide variant	NM_020376.4(PNPLA2):c.787G>T (p.Ala263Ser)	Neutral lipid storage myopathy [RCV001236693]	uncertain significance	11	823723	823723	Human	1	name
38494546	CV956705	single nucleotide variant	NM_020376.4(PNPLA2):c.756C>A (p.Asn252Lys)	Neutral lipid storage myopathy [RCV001241375]	likely benign\|uncertain significance	11	823586	823586	Human	1	name
39456876	CV965654	single nucleotide variant	NM_020376.4(PNPLA2):c.553T>C (p.Ser185Pro)	Neutral lipid storage myopathy [RCV001255206]	uncertain significance	11	822463	822463	Human	1	name
126748930	CV1030577	single nucleotide variant	NM_020376.4(PNPLA2):c.1002G>A (p.Met334Ile)	Neutral lipid storage myopathy [RCV001337751]	uncertain significance	11	824080	824080	Human	1	name
126763965	CV1030579	single nucleotide variant	NM_020376.4(PNPLA2):c.1316G>A (p.Cys439Tyr)	Inborn genetic diseases [RCV003355407]\|Neutral lipid storage myopathy [RCV001341479]	uncertain significance	11	824663	824663	Human	2	name
126908166	CV1047581	single nucleotide variant	NM_020376.4(PNPLA2):c.1021C>T (p.Pro341Ser)	Neutral lipid storage myopathy [RCV001367661]	uncertain significance	11	824099	824099	Human	1	name
126911047	CV1047582	single nucleotide variant	NM_020376.4(PNPLA2):c.1201C>T (p.Arg401Cys)	Neutral lipid storage myopathy [RCV001369041]	uncertain significance	11	824548	824548	Human	1	name
151236047	CV1319478	single nucleotide variant	NM_020376.4(PNPLA2):c.1513T>A (p.Ter505Arg)	not provided [RCV001797423]	uncertain significance	11	824860	824860	Human		name
151785161	CV1342631	single nucleotide variant	NM_020376.4(PNPLA2):c.1478C>T (p.Pro493Leu)	Neutral lipid storage myopathy [RCV002010108]	uncertain significance	11	824825	824825	Human	1	name
151849745	CV1355166	single nucleotide variant	NM_020376.4(PNPLA2):c.1353C>A (p.Asn451Lys)	Neutral lipid storage myopathy [RCV001957815]	uncertain significance	11	824700	824700	Human	1	name
151782060	CV1360448	single nucleotide variant	NM_020376.4(PNPLA2):c.1363C>T (p.Pro455Ser)	Neutral lipid storage myopathy [RCV001865057]	uncertain significance	11	824710	824710	Human	1	name
151877436	CV1368851	single nucleotide variant	NM_020376.4(PNPLA2):c.1508G>C (p.Gly503Ala)	Neutral lipid storage myopathy [RCV001999107]	uncertain significance	11	824855	824855	Human	1	name
151819370	CV1385850	single nucleotide variant	NM_020376.4(PNPLA2):c.1222G>T (p.Val408Leu)	Neutral lipid storage myopathy [RCV002013220]	uncertain significance	11	824569	824569	Human	1	name
151846477	CV1386536	single nucleotide variant	NM_020376.4(PNPLA2):c.1251G>C (p.Glu417Asp)	Neutral lipid storage myopathy [RCV001882009]	uncertain significance	11	824598	824598	Human	1	name
151860112	CV1400035	single nucleotide variant	NM_020376.4(PNPLA2):c.1145A>G (p.Lys382Arg)	Neutral lipid storage myopathy [RCV001997031]	uncertain significance	11	824406	824406	Human	1	name
151738583	CV1432653	single nucleotide variant	NM_020376.4(PNPLA2):c.1480G>A (p.Glu494Lys)	Neutral lipid storage myopathy [RCV002022094]	uncertain significance	11	824827	824827	Human	1	name
151744483	CV1432861	single nucleotide variant	NM_020376.4(PNPLA2):c.1399C>T (p.Pro467Ser)	Neutral lipid storage myopathy [RCV001968486]	uncertain significance	11	824746	824746	Human	1	name
151807408	CV1450102	single nucleotide variant	NM_020376.4(PNPLA2):c.1210T>G (p.Ser404Ala)	Neutral lipid storage myopathy [RCV001899623]	uncertain significance	11	824557	824557	Human	1	name
151847438	CV1461783	single nucleotide variant	NM_020376.4(PNPLA2):c.1138C>G (p.Arg380Gly)	Neutral lipid storage myopathy [RCV001936899]	uncertain significance	11	824399	824399	Human	1	name
151727699	CV1486383	single nucleotide variant	NM_020376.4(PNPLA2):c.1427C>A (p.Ser476Tyr)	Neutral lipid storage myopathy [RCV001891923]	uncertain significance	11	824774	824774	Human	1	name
151812969	CV1498255	single nucleotide variant	NM_020376.4(PNPLA2):c.1204G>C (p.Val402Leu)	Neutral lipid storage myopathy [RCV001954009]	uncertain significance	11	824551	824551	Human	1	name
151735787	CV1508899	single nucleotide variant	NM_020376.4(PNPLA2):c.1457C>A (p.Pro486His)	Inborn genetic diseases [RCV003161273]\|Neutral lipid storage myopathy [RCV002021795]	uncertain significance	11	824804	824804	Human	2	name
151819168	CV1513944	single nucleotide variant	NM_020376.4(PNPLA2):c.1375C>G (p.Leu459Val)	Neutral lipid storage myopathy [RCV001933972]	uncertain significance	11	824722	824722	Human	1	name
152091112	CV1654970	indel	NM_020376.4(PNPLA2):c.696+15_696+16delinsAG	Neutral lipid storage myopathy [RCV002212738]	likely benign	11	822621	822622	Human		name
155644064	CV1708386	single nucleotide variant	NM_020376.4(PNPLA2):c.1204G>A (p.Val402Ile)	Neutral lipid storage myopathy [RCV002290375]	uncertain significance	11	824551	824551	Human	1	name
156405391	CV1893805	single nucleotide variant	NM_020376.4(PNPLA2):c.1112G>C (p.Gly371Ala)	Neutral lipid storage myopathy [RCV003070008]	uncertain significance	11	824373	824373	Human	1	name
156302124	CV1916161	single nucleotide variant	NM_020376.4(PNPLA2):c.1457C>G (p.Pro486Arg)	Neutral lipid storage myopathy [RCV002599223]	uncertain significance	11	824804	824804	Human	1	name
155962747	CV1931690	single nucleotide variant	NM_020376.4(PNPLA2):c.1283C>T (p.Ser428Leu)	Neutral lipid storage myopathy [RCV002616813]	uncertain significance	11	824630	824630	Human	1	name
156209952	CV1932435	single nucleotide variant	NM_020376.4(PNPLA2):c.1181C>T (p.Pro394Leu)	Neutral lipid storage myopathy [RCV002643956]	uncertain significance	11	824528	824528	Human	1	name
156412729	CV1968795	single nucleotide variant	NM_020376.4(PNPLA2):c.1232C>T (p.Ser411Phe)	Neutral lipid storage myopathy [RCV002608624]	uncertain significance	11	824579	824579	Human	1	name
156154721	CV1991482	single nucleotide variant	NM_020376.4(PNPLA2):c.1337G>A (p.Gly446Asp)	Neutral lipid storage myopathy [RCV002642192]	uncertain significance	11	824684	824684	Human	1	name
156095096	CV2010534	single nucleotide variant	NM_020376.4(PNPLA2):c.1107G>C (p.Gln369His)	Neutral lipid storage myopathy [RCV002695086]	uncertain significance	11	824368	824368	Human	1	name
156092757	CV2012612	single nucleotide variant	NM_020376.4(PNPLA2):c.1132G>C (p.Val378Leu)	Neutral lipid storage myopathy [RCV002706373]	uncertain significance	11	824393	824393	Human	1	name
156192517	CV2017836	single nucleotide variant	NM_020376.4(PNPLA2):c.1354G>A (p.Val452Met)	Neutral lipid storage myopathy [RCV002700006]	uncertain significance	11	824701	824701	Human	1	name
156251161	CV2041063	single nucleotide variant	NM_020376.4(PNPLA2):c.1168C>T (p.Pro390Ser)	Neutral lipid storage myopathy [RCV002806014]	uncertain significance	11	824429	824429	Human	1	name
156208688	CV2042430	single nucleotide variant	NM_020376.4(PNPLA2):c.1336G>C (p.Gly446Arg)	Inborn genetic diseases [RCV004958753]\|Neutral lipid storage myopathy [RCV002766514]	uncertain significance	11	824683	824683	Human	2	name
156035183	CV2047533	single nucleotide variant	NM_020376.4(PNPLA2):c.1376T>C (p.Leu459Pro)	Neutral lipid storage myopathy [RCV002781275]	uncertain significance	11	824723	824723	Human	1	name
155966467	CV2048436	single nucleotide variant	NM_020376.4(PNPLA2):c.1421C>T (p.Pro474Leu)	Neutral lipid storage myopathy [RCV002776515]	uncertain significance	11	824768	824768	Human	1	name
156326056	CV2108571	single nucleotide variant	NM_020376.4(PNPLA2):c.1211C>T (p.Ser404Leu)	Neutral lipid storage myopathy [RCV002938089]	uncertain significance	11	824558	824558	Human	1	name
156355114	CV2129829	single nucleotide variant	NM_020376.4(PNPLA2):c.1346G>C (p.Cys449Ser)	Neutral lipid storage myopathy [RCV002966596]	uncertain significance	11	824693	824693	Human	1	name
155977658	CV2132518	single nucleotide variant	NM_020376.4(PNPLA2):c.1468A>G (p.Thr490Ala)	Neutral lipid storage myopathy [RCV002995936]	uncertain significance	11	824815	824815	Human	1	name
156261349	CV2143260	single nucleotide variant	NM_020376.4(PNPLA2):c.1226C>A (p.Pro409Gln)	Neutral lipid storage myopathy [RCV003008935]	uncertain significance	11	824573	824573	Human	1	name
155999687	CV2149247	single nucleotide variant	NM_020376.4(PNPLA2):c.1351A>G (p.Asn451Asp)	Neutral lipid storage myopathy [RCV002996957]	uncertain significance	11	824698	824698	Human	1	name
156053477	CV2242971	single nucleotide variant	NM_020376.4(PNPLA2):c.1150A>C (p.Lys384Gln)	Inborn genetic diseases [RCV002782160]	uncertain significance	11	824411	824411	Human	1	name
156155207	CV2374992	single nucleotide variant	NM_020376.4(PNPLA2):c.1439A>G (p.Gln480Arg)	Inborn genetic diseases [RCV002709906]	uncertain significance	11	824786	824786	Human	1	name
243059592	CV2413424	single nucleotide variant	NM_020376.4(PNPLA2):c.1459T>G (p.Leu487Val)	Neutral lipid storage myopathy [RCV003135058]	uncertain significance	11	824806	824806	Human	1	name
243059595	CV2413427	single nucleotide variant	NM_020376.4(PNPLA2):c.1142C>T (p.Ala381Val)	Neutral lipid storage myopathy [RCV003135061]	uncertain significance	11	824403	824403	Human	1	name
243050540	CV2413430	single nucleotide variant	NM_020376.4(PNPLA2):c.1454C>T (p.Ala485Val)	Neutral lipid storage myopathy [RCV003130281]	uncertain significance	11	824801	824801	Human	1	name
243059600	CV2413435	single nucleotide variant	NM_020376.4(PNPLA2):c.1421C>G (p.Pro474Arg)	Inborn genetic diseases [RCV004246044]\|Neutral lipid storage myopathy [RCV003135067]	uncertain significance	11	824768	824768	Human	2	name
11546051	CV254353	single nucleotide variant	NM_020376.4(PNPLA2):c.1327C>G (p.Leu443Val)	Inborn genetic diseases [RCV002518646]\|Neutral lipid storage myopathy [RCV000343309]\|not specified [RCV000245958]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	824674	824674	Human	2	name
11549505	CV254354	single nucleotide variant	NM_020376.4(PNPLA2):c.1364C>A (p.Pro455Gln)	Inborn genetic diseases [RCV002518647]\|Neutral lipid storage myopathy [RCV000401957]\|not specified [RCV000250507]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	824711	824711	Human	2	name
11543458	CV254355	single nucleotide variant	NM_020376.4(PNPLA2):c.1430C>G (p.Pro477Arg)	Neutral lipid storage myopathy [RCV000284101]\|not provided [RCV001706356]\|not specified [RCV000242486]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	824777	824777	Human	1	name
11545710	CV254356	single nucleotide variant	NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu)	Neutral lipid storage myopathy [RCV001084354]\|not provided [RCV000714556]\|not specified [RCV000245505]	benign\|likely benign\|conflicting interpretations of pathogenicity	11	824777	824777	Human	1	name
11549459	CV254357	single nucleotide variant	NM_020376.4(PNPLA2):c.1442T>C (p.Leu481Pro)	Neutral lipid storage myopathy [RCV000336767]\|not provided [RCV001610715]\|not specified [RCV000250452]	benign	11	824789	824789	Human	1	name
401887271	CV2773282	single nucleotide variant	NM_020376.4(PNPLA2):c.1258C>T (p.Pro420Ser)	Inborn genetic diseases [RCV003367098]	uncertain significance	11	824605	824605	Human	1	name
404977586	CV2850833	single nucleotide variant	NM_020376.4(PNPLA2):c.1435C>A (p.His479Asn)	Neutral lipid storage myopathy [RCV003486204]	uncertain significance	11	824782	824782	Human	1	name
404977588	CV2850834	single nucleotide variant	NM_020376.4(PNPLA2):c.1450C>A (p.Pro484Thr)	Neutral lipid storage myopathy [RCV003486205]	uncertain significance	11	824797	824797	Human	1	name
402470529	CV3175200	single nucleotide variant	NM_020376.4(PNPLA2):c.1198C>T (p.Arg400Cys)	Neutral lipid storage myopathy [RCV003874132]	uncertain significance	11	824545	824545	Human	1	name
11610539	CV322210	single nucleotide variant	NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln)	Inborn genetic diseases [RCV002520774]\|Neutral lipid storage myopathy [RCV000382845]	conflicting interpretations of pathogenicity\|uncertain significance	11	824528	824528	Human	2	name
11615482	CV328300	single nucleotide variant	NM_020376.4(PNPLA2):c.1220C>T (p.Ser407Phe)	Neutral lipid storage myopathy [RCV000286119]\|not provided [RCV003221903]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	824567	824567	Human	1	name
11616689	CV329608	single nucleotide variant	NM_020376.4(PNPLA2):c.1466G>T (p.Ser489Ile)	Neutral lipid storage myopathy [RCV000297114]\|not provided [RCV003221904]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	824813	824813	Human	1	name
405657983	CV3376626	single nucleotide variant	NM_020376.4(PNPLA2):c.1244A>G (p.Tyr415Cys)	Inborn genetic diseases [RCV004511925]	uncertain significance	11	824591	824591	Human	1	name
405657986	CV3376627	single nucleotide variant	NM_020376.4(PNPLA2):c.1358C>T (p.Ala453Val)	Inborn genetic diseases [RCV004511926]	uncertain significance	11	824705	824705	Human	1	name
597692038	CV3590664	single nucleotide variant	NM_020376.4(PNPLA2):c.1481A>T (p.Glu494Val)	Inborn genetic diseases [RCV004954291]	uncertain significance	11	824828	824828	Human	1	name
597946535	CV3755604	single nucleotide variant	NM_020376.4(PNPLA2):c.1105C>T (p.Gln369Ter)	Neutral lipid storage myopathy [RCV005078614]	pathogenic	11	824366	824366	Human	1	name
598187724	CV4003529	single nucleotide variant	NM_020376.4(PNPLA2):c.1396G>C (p.Asp466His)	Inborn genetic diseases [RCV005395963]	uncertain significance	11	824743	824743	Human	1	name
13211570	CV425945	single nucleotide variant	NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser)	Neutral lipid storage myopathy [RCV001079255]\|PNPLA2-related disorder [RCV004755935]\|not provided [RCV000497628]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	824624	824624	Human	2	name , trait , alternate_id
13466056	CV462019	single nucleotide variant	NM_020376.4(PNPLA2):c.1415C>G (p.Ala472Gly)	Inborn genetic diseases [RCV004649194]\|Neutral lipid storage myopathy [RCV000543186]	uncertain significance	11	824762	824762	Human	2	name
13500493	CV462327	single nucleotide variant	NM_020376.4(PNPLA2):c.1237G>A (p.Ala413Thr)	Neutral lipid storage myopathy [RCV000540444]	benign	11	824584	824584	Human	1	name
13494519	CV462328	single nucleotide variant	NM_020376.4(PNPLA2):c.1447G>C (p.Gly483Arg)	Neutral lipid storage myopathy [RCV000536455]	uncertain significance	11	824794	824794	Human	1	name
13491143	CV462331	single nucleotide variant	NM_020376.4(PNPLA2):c.1486C>T (p.Arg496Trp)	Neutral lipid storage myopathy [RCV000556497]\|PNPLA2-related disorder [RCV004755959]	uncertain significance	11	824833	824833	Human	2	name , trait , alternate_id
13611053	CV526491	single nucleotide variant	NM_020376.4(PNPLA2):c.1339C>T (p.Leu447Phe)	Inborn genetic diseases [RCV003243227]\|Neutral lipid storage myopathy [RCV000641667]	uncertain significance	11	824686	824686	Human	2	name
13611045	CV526498	single nucleotide variant	NM_020376.4(PNPLA2):c.1456C>T (p.Pro486Ser)	Neutral lipid storage myopathy [RCV000641664]	uncertain significance	11	824803	824803	Human	1	name
13611033	CV526555	single nucleotide variant	NM_020376.4(PNPLA2):c.1150A>G (p.Lys384Glu)	Neutral lipid storage myopathy [RCV000641659]	uncertain significance	11	824411	824411	Human	1	name
13611048	CV526558	single nucleotide variant	NM_020376.4(PNPLA2):c.1406C>T (p.Pro469Leu)	Inborn genetic diseases [RCV003278965]\|Neutral lipid storage myopathy [RCV000641665]\|not provided [RCV004723020]	uncertain significance	11	824753	824753	Human	2	name
13611036	CV526796	single nucleotide variant	NM_020376.4(PNPLA2):c.1111G>A (p.Gly371Ser)	Neutral lipid storage myopathy [RCV000641660]	uncertain significance	11	824372	824372	Human	1	name
13804882	CV566205	single nucleotide variant	NM_020376.4(PNPLA2):c.1102G>C (p.Glu368Gln)	Neutral lipid storage myopathy [RCV000685439]	uncertain significance	11	824363	824363	Human	1	name
13820510	CV566207	single nucleotide variant	NM_020376.4(PNPLA2):c.1433A>G (p.Gln478Arg)	Neutral lipid storage myopathy [RCV000694920]	uncertain significance	11	824780	824780	Human	1	name
13811178	CV571037	single nucleotide variant	NM_020376.4(PNPLA2):c.1408G>A (p.Ala470Thr)	Inborn genetic diseases [RCV002533673]\|Neutral lipid storage myopathy [RCV000702958]\|not provided [RCV003227837]	uncertain significance	11	824755	824755	Human	2	name
14693485	CV620423	single nucleotide variant	NM_020376.4(PNPLA2):c.1266G>A (p.Trp422Ter)	Neutral lipid storage myopathy [RCV000779083]\|PNPLA2-related disorder [RCV004756032]\|not provided [RCV002254316]	likely pathogenic\|uncertain significance	11	824613	824613	Human	2	name , trait , alternate_id
14705665	CV640485	single nucleotide variant	NM_020376.4(PNPLA2):c.1139G>A (p.Arg380His)	Inborn genetic diseases [RCV002535849]\|Neutral lipid storage myopathy [RCV000791759]	uncertain significance	11	824400	824400	Human	2	name
14727406	CV640486	single nucleotide variant	NM_020376.4(PNPLA2):c.1279C>T (p.Leu427Phe)	Neutral lipid storage myopathy [RCV000799634]	uncertain significance	11	824626	824626	Human	1	name
14719392	CV640488	single nucleotide variant	NM_020376.4(PNPLA2):c.1484C>A (p.Ala495Asp)	Inborn genetic diseases [RCV005392401]\|Neutral lipid storage myopathy [RCV000796184]\|not provided [RCV001091844]	uncertain significance	11	824831	824831	Human	2	name
15128747	CV693119	single nucleotide variant	NM_020376.4(PNPLA2):c.1483G>A (p.Ala495Thr)	Neutral lipid storage myopathy [RCV000875538]	likely benign	11	824830	824830	Human	1	name
15164089	CV713219	single nucleotide variant	NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp)	Neutral lipid storage myopathy [RCV001111096]\|not provided [RCV003328640]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	11	824351	824351	Human	1	name
26892002	CV839127	single nucleotide variant	NM_020376.4(PNPLA2):c.1051C>A (p.Arg351Ser)	Neutral lipid storage myopathy [RCV001068494]	uncertain significance	11	824129	824129	Human	1	name
26901759	CV839128	single nucleotide variant	NM_020376.4(PNPLA2):c.1061A>G (p.Glu354Gly)	Neutral lipid storage myopathy [RCV001050000]	uncertain significance	11	824322	824322	Human	1	name
26904604	CV839129	single nucleotide variant	NM_020376.4(PNPLA2):c.1072G>A (p.Asp358Asn)	Neutral lipid storage myopathy [RCV001036633]	uncertain significance	11	824333	824333	Human	1	name
26887166	CV839130	single nucleotide variant	NM_020376.4(PNPLA2):c.1138C>T (p.Arg380Cys)	Neutral lipid storage myopathy [RCV001044704]	uncertain significance	11	824399	824399	Human	1	name
26918841	CV839131	single nucleotide variant	NM_020376.4(PNPLA2):c.1217C>T (p.Pro406Leu)	Inborn genetic diseases [RCV003283925]\|Neutral lipid storage myopathy [RCV001058327]\|not provided [RCV004797895]	uncertain significance	11	824564	824564	Human	2	name
26922561	CV839132	single nucleotide variant	NM_020376.4(PNPLA2):c.1226C>T (p.Pro409Leu)	Neutral lipid storage myopathy [RCV001062318]	uncertain significance	11	824573	824573	Human	1	name
26922268	CV839133	single nucleotide variant	NM_020376.4(PNPLA2):c.1328T>G (p.Leu443Arg)	Neutral lipid storage myopathy [RCV001061772]	uncertain significance	11	824675	824675	Human	1	name
26907630	CV839135	single nucleotide variant	NM_020376.4(PNPLA2):c.1411C>T (p.Pro471Ser)	Neutral lipid storage myopathy [RCV001038053]	uncertain significance	11	824758	824758	Human	1	name
26913898	CV839136	single nucleotide variant	NM_020376.4(PNPLA2):c.1429C>G (p.Pro477Ala)	Neutral lipid storage myopathy [RCV001054564]	uncertain significance	11	824776	824776	Human	1	name
28869378	CV868878	single nucleotide variant	NM_020376.4(PNPLA2):c.1349C>T (p.Thr450Ile)	Neutral lipid storage myopathy [RCV001113090]	uncertain significance	11	824696	824696	Human	1	name
38478453	CV926406	single nucleotide variant	NM_020376.4(PNPLA2):c.1336G>A (p.Gly446Ser)	Neutral lipid storage myopathy [RCV001216603]	uncertain significance	11	824683	824683	Human	1	name
38476866	CV926407	single nucleotide variant	NM_020376.4(PNPLA2):c.1364C>T (p.Pro455Leu)	Neutral lipid storage myopathy [RCV001215859]	uncertain significance	11	824711	824711	Human	1	name
38478756	CV926408	single nucleotide variant	NM_020376.4(PNPLA2):c.1409C>T (p.Ala470Val)	Neutral lipid storage myopathy [RCV001216753]	uncertain significance	11	824756	824756	Human	1	name
38477600	CV935836	single nucleotide variant	NM_020376.4(PNPLA2):c.1154T>C (p.Leu385Pro)	Neutral lipid storage myopathy [RCV001205161]	uncertain significance	11	824415	824415	Human	1	name
38478547	CV935837	single nucleotide variant	NM_020376.4(PNPLA2):c.1226C>G (p.Pro409Arg)	Inborn genetic diseases [RCV004960533]\|Neutral lipid storage myopathy [RCV001205599]	uncertain significance	11	824573	824573	Human	2	name
38468819	CV935838	single nucleotide variant	NM_020376.4(PNPLA2):c.1240G>A (p.Ala414Thr)	Inborn genetic diseases [RCV004659380]\|Neutral lipid storage myopathy [RCV001202251]	likely benign\|uncertain significance	11	824587	824587	Human	2	name
38481056	CV935839	single nucleotide variant	NM_020376.4(PNPLA2):c.1396G>A (p.Asp466Asn)	Neutral lipid storage myopathy [RCV001206668]	uncertain significance	11	824743	824743	Human	1	name
38466931	CV935840	single nucleotide variant	NM_020376.4(PNPLA2):c.1447G>A (p.Gly483Arg)	Neutral lipid storage myopathy [RCV001201931]	uncertain significance	11	824794	824794	Human	1	name
38459972	CV947723	single nucleotide variant	NM_020376.4(PNPLA2):c.1379G>T (p.Arg460Leu)	Neutral lipid storage myopathy [RCV001229251]	uncertain significance	11	824726	824726	Human	1	name
38458065	CV956706	single nucleotide variant	NM_020376.4(PNPLA2):c.1010C>T (p.Pro337Leu)	Neutral lipid storage myopathy [RCV001246220]	uncertain significance	11	824088	824088	Human	1	name
38490540	CV956707	single nucleotide variant	NM_020376.4(PNPLA2):c.1253C>T (p.Ala418Val)	Neutral lipid storage myopathy [RCV001238886]	uncertain significance	11	824600	824600	Human	1	name
126764254	CV994829	single nucleotide variant	NM_020376.4(PNPLA2):c.1266G>C (p.Trp422Cys)	Neutral lipid storage myopathy [RCV001301018]	uncertain significance	11	824613	824613	Human	1	name
126759073	CV994830	single nucleotide variant	NM_020376.4(PNPLA2):c.1414G>A (p.Ala472Thr)	Neutral lipid storage myopathy [RCV001299386]	uncertain significance	11	824761	824761	Human	1	name
126752709	CV994831	single nucleotide variant	NM_020376.4(PNPLA2):c.1484C>T (p.Ala495Val)	Neutral lipid storage myopathy [RCV001307271]	uncertain significance	11	824831	824831	Human	1	name
126733434	CV994832	single nucleotide variant	NM_020376.4(PNPLA2):c.1486C>G (p.Arg496Gly)	Neutral lipid storage myopathy [RCV001294738]	uncertain significance	11	824833	824833	Human	1	name
151807676	CV1477670	deletion	NM_020376.4(PNPLA2):c.856_877del (p.Asp286fs)	Neutral lipid storage myopathy [RCV001953511]	pathogenic	11	823787	823808	Human	1	name
13817535	CV571035	deletion	NM_020376.4(PNPLA2):c.926_936del (p.Leu309fs)	Neutral lipid storage myopathy [RCV000707081]	uncertain significance	11	823999	824009	Human	1	name
8573218	CV76351	microsatellite	NM_020376.4(PNPLA2):c.475_478dup (p.Gln160fs)	Neutral lipid storage myopathy [RCV000055643]	pathogenic	11	822000	822001	Human		name
151876666	CV1490210	deletion	NM_020376.4(PNPLA2):c.537_539del (p.Lys179del)	Neutral lipid storage myopathy [RCV001940476]	uncertain significance	11	822445	822447	Human	1	name
243050535	CV2413423	deletion	NM_020376.4(PNPLA2):c.1447_1451del (p.Gly483fs)	Neutral lipid storage myopathy [RCV003130280]	uncertain significance	11	824790	824794	Human	1	name
596932557	CV3539179	duplication	NM_020376.4(PNPLA2):c.1416_1432dup (p.Gln478fs)	not provided [RCV004793305]	uncertain significance	11	824756	824757	Human		name
596932558	CV3539180	microsatellite	NM_020376.4(PNPLA2):c.1488_1492dup (p.Val498fs)	not provided [RCV004793306]	uncertain significance	11	824828	824829	Human		name
151765789	CV1387592	duplication	NM_020376.4(PNPLA2):c.1376_1378dup (p.Leu459dup)	Neutral lipid storage myopathy [RCV001987761]	uncertain significance	11	824721	824722	Human	1	name
156286335	CV2134166	deletion	NM_020376.4(PNPLA2):c.1042_1044del (p.Phe348del)	Neutral lipid storage myopathy [RCV003009784]	uncertain significance	11	824119	824121	Human	1	name
13504330	CV461477	indel	NM_020376.4(PNPLA2):c.310_311delinsAT (p.Ala104Ile)	Neutral lipid storage myopathy [RCV000527379]	uncertain significance	11	821750	821751	Human		name
38491176	CV956704	indel	NM_020376.4(PNPLA2):c.738_739delinsAA (p.Arg247Ser)	Neutral lipid storage myopathy [RCV001239292]	uncertain significance	11	823568	823569	Human		name
127233631	CV1062538	deletion	NM_020376.4(PNPLA2):c.999del (p.Ala333_Met334insTer)	Neutral lipid storage myopathy [RCV001383465]	pathogenic	11	824076	824076	Human	1	name
127286039	CV1161631	deletion	NM_020376.4(PNPLA2):c.399_404del (p.Asn133_Ser134del)	Neutral lipid storage myopathy [RCV001526397]	uncertain significance	11	821836	821841	Human	1	name
156408354	CV1869979	deletion	NM_020376.4(PNPLA2):c.902_910del (p.Pro301_Arg303del)	Neutral lipid storage myopathy [RCV003071234]	uncertain significance	11	823836	823844	Human	1	name
13488356	CV462016	indel	NM_020376.4(PNPLA2):c.1243_1245delinsCAG (p.Tyr415Gln)	Neutral lipid storage myopathy [RCV000554760]	uncertain significance	11	824590	824592	Human		name
404977590	CV2850835	deletion	NM_020376.4(PNPLA2):c.1416_1475del (p.Asp473_Ala492del)	Neutral lipid storage myopathy [RCV003486206]	uncertain significance	11	824761	824820	Human	1	name
13492452	CV461689	deletion	NM_020376.4(PNPLA2):c.1487_1504del (p.Arg496_Ala501del)	Neutral lipid storage myopathy [RCV000534968]\|See cases [RCV002252161]	uncertain significance	11	824829	824846	Human	1	name
11543104	CV254359	indel	NM_020376.4(PNPLA2):c.1458_1459delinsTC (p.Pro486_Leu487=)	Neutral lipid storage myopathy [RCV001461226]\|not specified [RCV000242016]	likely benign	11	824805	824806	Human		name
156025241	CV2043440	duplication	NM_020376.4(PNPLA2):c.1401_1421dup (p.Ala475_Ser476insProAlaProAlaAspProAla)	Neutral lipid storage myopathy [RCV002780861]	uncertain significance	11	824742	824743	Human	1	name
405114892	CV2901420	insertion	NM_020376.4(PNPLA2):c.231_232insGGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCTGGTCTCCAGCTCCTAACCGCGAGTGATCCGCCAGCCTCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAGGCCCGG (p.Lys78delinsGlyTrpArgArgGlyPheAlaValLeuAlaGlyLeuValSerSerSerTer)	Neutral lipid storage myopathy [RCV003499962]	pathogenic	11	821659	821660	Human	1	name

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

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