Park7 Variant Search Result - Rat Genome Database

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145 records found for search term Park7

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11664416	CV281251	single nucleotide variant	NM_007262.5(PARK7):c.-30G>C	Autosomal recessive early-onset Parkinson disease 7 [RCV000405276]	uncertain significance	1	7961787	7961787	Human	1	name
11589003	CV281869	single nucleotide variant	NM_007262.5(PARK7):c.-80T>A	Autosomal recessive early-onset Parkinson disease 7 [RCV000307378]	uncertain significance	1	7961737	7961737	Human	1	name
11589742	CV283115	single nucleotide variant	NM_007262.5(PARK7):c.-22C>T	Autosomal recessive early-onset Parkinson disease 7 [RCV000313148]\|not provided [RCV001612934]\|not specified [RCV001289112]	benign\|likely benign	1	7962764	7962764	Human	1	name
11598407	CV283315	single nucleotide variant	NM_007262.5(PARK7):c.-99T>C	Autosomal recessive early-onset Parkinson disease 7 [RCV000405024]\|not provided [RCV004713705]	benign	1	7961718	7961718	Human	1	name
11593271	CV283316	single nucleotide variant	NM_007262.5(PARK7):c.-70C>T	Autosomal recessive early-onset Parkinson disease 7 [RCV000347071]\|not provided [RCV001672413]	benign\|likely benign	1	7961747	7961747	Human	1	name
28889234	CV864821	single nucleotide variant	NM_007262.5(PARK7):c.*49A>G	Autosomal recessive early-onset Parkinson disease 7 [RCV001099354]	uncertain significance	1	7985103	7985103	Human	1	name
127241541	CV1067599	single nucleotide variant	NM_007262.5(PARK7):c.91-5C>T	Autosomal recessive early-onset Parkinson disease 7 [RCV001393174]	likely benign	1	7965319	7965319	Human	1	name
156211188	CV2036901	single nucleotide variant	NM_007262.5(PARK7):c.91-4G>C	Autosomal recessive early-onset Parkinson disease 7 [RCV002790247]	likely benign	1	7965320	7965320	Human	1	name
11592760	CV283113	single nucleotide variant	NM_007262.4(PARK7):c.-127G>C	Parkinson Disease, Recessive [RCV000342264]	uncertain significance	1	7961690	7961690	Human	1	name
11586378	CV283314	single nucleotide variant	NM_007262.4(PARK7):c.-137G>A	Parkinson Disease, Recessive [RCV000287311]\|not provided [RCV001689983]	benign\|likely benign	1	7961680	7961680	Human	1	name
11594136	CV283319	single nucleotide variant	NM_007262.5(PARK7):c.*125G>A	Autosomal recessive early-onset Parkinson disease 7 [RCV000355899]	uncertain significance	1	7985179	7985179	Human	1	name
405854284	CV3392953	deletion	NM_007262.5(PARK7):c.410delG	not specified [RCV004527110]	uncertain significance	1	7984893	7984893	Human		name
13627079	CV516087	single nucleotide variant	NM_007262.5(PARK7):c.91-4G>A	Autosomal recessive early-onset Parkinson disease 7 [RCV000641701]	likely benign	1	7965320	7965320	Human	1	name
21072322	CV792720	duplication	NM_007262.5(PARK7):c.90+1dup	Autosomal recessive early-onset Parkinson disease 7 [RCV000991412]	likely pathogenic	1	7962872	7962873	Human	1	name
28889238	CV864822	single nucleotide variant	NM_007262.5(PARK7):c.*124C>T	Autosomal recessive early-onset Parkinson disease 7 [RCV001099355]\|not provided [RCV002285441]	likely benign	1	7985178	7985178	Human	1	name
28889242	CV864823	single nucleotide variant	NM_007262.5(PARK7):c.*185T>A	Autosomal recessive early-onset Parkinson disease 7 [RCV001099356]	uncertain significance	1	7985239	7985239	Human	1	name
150333564	CV1170773	duplication	NM_007262.5(PARK7):c.-23-4dup	not provided [RCV001539557]	benign	1	7962740	7962741	Human		name
150493533	CV1225683	deletion	NM_007262.5(PARK7):c.-23-4del	not provided [RCV001619199]	benign	1	7962741	7962741	Human		name
156434550	CV1940186	single nucleotide variant	NM_007262.5(PARK7):c.322+6G>A	Autosomal recessive early-onset Parkinson disease 7 [RCV003104506]	uncertain significance	1	7970969	7970969	Human	1	name
156131975	CV2097126	single nucleotide variant	NM_007262.5(PARK7):c.252+8A>G	Autosomal recessive early-onset Parkinson disease 7 [RCV002889984]	likely benign	1	7969412	7969412	Human	1	name
597888210	CV3839196	single nucleotide variant	NM_007262.5(PARK7):c.90+12A>G	Autosomal recessive early-onset Parkinson disease 7 [RCV005179282]	likely benign	1	7962887	7962887	Human	1	name
598125884	CV3883331	single nucleotide variant	NM_007262.5(PARK7):c.192+1G>T	Autosomal recessive early-onset Parkinson disease 7 [RCV005233202]	likely pathogenic	1	7965426	7965426	Human	1	name
14709308	CV658097	duplication	NM_007262.5(PARK7):c.252+8dup	Autosomal recessive early-onset Parkinson disease 7 [RCV001078528]\|not provided [RCV000835026]	likely benign	1	7969406	7969407	Human	1	name
15105134	CV777107	single nucleotide variant	NM_007262.5(PARK7):c.410-9A>G	Autosomal recessive early-onset Parkinson disease 7 [RCV002548273]\|not specified [RCV001664576]	likely benign	1	7984885	7984885	Human	1	name
28883741	CV865210	single nucleotide variant	NM_007262.5(PARK7):c.91-11C>T	Autosomal recessive early-onset Parkinson disease 7 [RCV001097592]	uncertain significance	1	7965313	7965313	Human	1	name
150407773	CV1175956	single nucleotide variant	NM_007262.5(PARK7):c.252+47A>G	not provided [RCV001545685]	likely benign	1	7969451	7969451	Human		name
150505445	CV1213530	single nucleotide variant	NM_007262.5(PARK7):c.323-48A>G	not provided [RCV001595786]	benign	1	7977604	7977604	Human		name
150449343	CV1215095	single nucleotide variant	NM_007262.5(PARK7):c.253-98G>A	not provided [RCV001611685]	benign	1	7970796	7970796	Human		name
150434279	CV1215850	single nucleotide variant	NM_007262.5(PARK7):c.252+30T>G	not provided [RCV001609038]	benign	1	7969434	7969434	Human		name
150510499	CV1242387	single nucleotide variant	NM_007262.5(PARK7):c.253-31C>T	not provided [RCV001660737]	benign	1	7970863	7970863	Human		name
150494275	CV1256434	single nucleotide variant	NM_007262.5(PARK7):c.322+31G>A	not provided [RCV001675399]	benign	1	7970994	7970994	Human		name
150503139	CV1257723	deletion	NM_007262.5(PARK7):c.252+46del	not provided [RCV001677411]	benign	1	7969441	7969441	Human		name
150503219	CV1257743	single nucleotide variant	NM_007262.5(PARK7):c.252+45G>A	not provided [RCV001677431]	benign	1	7969449	7969449	Human		name
150503358	CV1257779	single nucleotide variant	NM_007262.5(PARK7):c.91-109C>T	not provided [RCV001677467]	benign	1	7965215	7965215	Human		name
150440580	CV1265131	single nucleotide variant	NM_007262.5(PARK7):c.410-49T>C	not provided [RCV001679124]	benign	1	7984845	7984845	Human		name
150464877	CV1268514	single nucleotide variant	NM_007262.5(PARK7):c.252+46G>A	not provided [RCV001694210]	benign	1	7969450	7969450	Human		name
150466048	CV1268709	single nucleotide variant	NM_007262.5(PARK7):c.193-86A>G	not provided [RCV001694405]	benign	1	7969259	7969259	Human		name
150437147	CV1286498	single nucleotide variant	NM_007262.5(PARK7):c.-23-70T>G	not provided [RCV001724576]	benign	1	7962693	7962693	Human		name
150529997	CV1291095	duplication	NM_007262.5(PARK7):c.252+80dup	not provided [RCV001732673]	likely benign	1	7969483	7969484	Human		name
152041713	CV1537787	single nucleotide variant	NM_007262.5(PARK7):c.193-17G>A	Autosomal recessive early-onset Parkinson disease 7 [RCV002165775]	likely benign	1	7969328	7969328	Human	1	name
152174531	CV1591166	single nucleotide variant	NM_007262.5(PARK7):c.322+12G>A	Autosomal recessive early-onset Parkinson disease 7 [RCV002184543]	likely benign	1	7970975	7970975	Human	1	name
152092425	CV1596137	single nucleotide variant	NM_007262.5(PARK7):c.252+18A>G	Autosomal recessive early-onset Parkinson disease 7 [RCV002077890]	benign	1	7969422	7969422	Human	1	name
152068083	CV1600504	duplication	NM_007262.5(PARK7):c.193-13dup	Autosomal recessive early-onset Parkinson disease 7 [RCV002111072]	benign	1	7969328	7969329	Human	1	name
152980610	CV1676024	duplication	NM_007262.5(PARK7):c.252+46dup	not provided [RCV002245093]	likely benign	1	7969440	7969441	Human		name
156158120	CV1967740	single nucleotide variant	NM_007262.5(PARK7):c.323-10T>A	Autosomal recessive early-onset Parkinson disease 7 [RCV002594370]	likely benign	1	7977642	7977642	Human	1	name
156011685	CV2039285	single nucleotide variant	NM_007262.5(PARK7):c.323-20C>A	Autosomal recessive early-onset Parkinson disease 7 [RCV002756718]	likely benign	1	7977632	7977632	Human	1	name
11577429	CV281870	single nucleotide variant	NM_007262.5(PARK7):c.323-14A>G	Autosomal recessive early-onset Parkinson disease 7 [RCV000260186]\|not provided [RCV001642918]	benign\|likely benign	1	7977638	7977638	Human	1	name
405137617	CV3056054	single nucleotide variant	NM_007262.5(PARK7):c.323-16T>C	Autosomal recessive early-onset Parkinson disease 7 [RCV003618856]	likely benign	1	7977636	7977636	Human	1	name
408367567	CV3509655	single nucleotide variant	NM_007262.5(PARK7):c.-24+66C>G	PARK7-related disorder [RCV004759018]	uncertain significance	1	7961859	7961859	Human		name , trait , alternate_id
13497252	CV440250	duplication	PARK7, GLU163LYS AND 18-BP DUP	Parkinson disease 7 [RCV000007484]	pathogenic				Human		name
150333730	CV1168852	single nucleotide variant	NM_007262.5(PARK7):c.410-161G>A	not provided [RCV001537469]	benign	1	7984733	7984733	Human		name
150334286	CV1170775	single nucleotide variant	NM_007262.5(PARK7):c.410-230C>T	not provided [RCV001539949]	benign	1	7984664	7984664	Human		name
150449120	CV1202400	single nucleotide variant	NM_007262.5(PARK7):c.193-279A>G	not provided [RCV001584997]	likely benign	1	7969066	7969066	Human		name
150492043	CV1225403	single nucleotide variant	NM_007262.5(PARK7):c.-24+318C>T	not provided [RCV001618918]	benign	1	7962111	7962111	Human		name
150517165	CV1227903	deletion	NM_007262.5(PARK7):c.252+194del	not provided [RCV001639707]	benign	1	7969585	7969585	Human		name
150508832	CV1229741	single nucleotide variant	NM_007262.5(PARK7):c.193-149A>G	not provided [RCV001636320]	benign	1	7969196	7969196	Human		name
150433933	CV1230662	single nucleotide variant	NM_007262.5(PARK7):c.-24+344G>T	not provided [RCV001643608]	benign	1	7962137	7962137	Human	1	name
150443907	CV1232939	single nucleotide variant	NM_007262.5(PARK7):c.-24+120G>T	not provided [RCV001645611]	benign	1	7961913	7961913	Human		name
150482848	CV1245012	single nucleotide variant	NM_007262.5(PARK7):c.253-109A>G	not provided [RCV001653189]	benign	1	7970785	7970785	Human		name
150478950	CV1258176	single nucleotide variant	NM_007262.5(PARK7):c.323-216G>A	not provided [RCV001685591]	benign	1	7977436	7977436	Human		name
150444538	CV1266545	single nucleotide variant	NM_007262.5(PARK7):c.192+238A>C	not provided [RCV001690982]	benign	1	7965663	7965663	Human		name
150508425	CV1284278	single nucleotide variant	NM_007262.5(PARK7):c.192+331C>T	not provided [RCV001720386]	benign	1	7965756	7965756	Human		name
152174263	CV1536229	microsatellite	NM_007262.5(PARK7):c.409+18TTTG[5]	Autosomal recessive early-onset Parkinson disease 7 [RCV002144379]	likely benign	1	7977755	7977756	Human		name
152139959	CV1551149	microsatellite	NM_007262.5(PARK7):c.409+18TTTG[3]	Autosomal recessive early-onset Parkinson disease 7 [RCV002177925]	likely benign	1	7977756	7977759	Human		name
150453756	CV1219879	deletion	NM_007262.5(PARK7):c.-23-5_-23-4del	not provided [RCV001612260]	benign	1	7962741	7962742	Human		name
150412715	CV1196668	deletion	NM_007262.5(PARK7):c.252+45_252+46del	not provided [RCV001574417]	likely benign	1	7969441	7969442	Human		name
150498851	CV1235635	deletion	NM_007262.5(PARK7):c.-24+75_-24+92del	not provided [RCV001656318]	benign	1	7961851	7961868	Human		name
150490069	CV1279450	deletion	NM_007262.5(PARK7):c.-23-50_-23-49del	not provided [RCV001716405]	benign	1	7962713	7962714	Human		name
156146180	CV2090894	single nucleotide variant	NM_007262.5(PARK7):c.54G>A (p.Glu18=)	Autosomal recessive early-onset Parkinson disease 7 [RCV002890493]	likely benign	1	7962839	7962839	Human	1	name
402484132	CV2903345	single nucleotide variant	NM_007262.5(PARK7):c.96G>A (p.Lys32=)	Autosomal recessive early-onset Parkinson disease 7 [RCV003506805]	likely benign	1	7965329	7965329	Human	1	name
150438979	CV75266	duplication	NM_007262.5(PARK7):c.-24+75_-24+92dup	not provided [RCV001644681]	benign	1	7961850	7961851	Human		name
126735909	CV1000219	single nucleotide variant	NM_007262.5(PARK7):c.285G>A (p.Gln95=)	not provided [RCV001311615]	likely benign	1	7970926	7970926	Human		name
126736947	CV1003014	single nucleotide variant	NM_007262.5(PARK7):c.16G>T (p.Ala6Ser)	Autosomal recessive early-onset Parkinson disease 7 [RCV001313919]	uncertain significance	1	7962801	7962801	Human	1	name
150491330	CV1239263	insertion	NM_007262.5(PARK7):c.252+45_252+46insA	not provided [RCV001654831]	benign	1	7969449	7969450	Human		name
151801553	CV1442298	single nucleotide variant	NM_007262.5(PARK7):c.198A>G (p.Pro66=)	Autosomal recessive early-onset Parkinson disease 7 [RCV002011619]	likely benign\|uncertain significance	1	7969350	7969350	Human	1	name
11581081	CV283121	single nucleotide variant	NM_007262.5(PARK7):c.234C>T (p.Gly78=)	Autosomal recessive early-onset Parkinson disease 7 [RCV000555344]\|Parkinson Disease, Recessive [RCV000354945]\|not provided [RCV000712504]\|not specified [RCV001529647]	benign\|likely benign	1	7969386	7969386	Human	2	name
405139215	CV3072526	single nucleotide variant	NM_007262.5(PARK7):c.273A>C (p.Ile91=)	Autosomal recessive early-onset Parkinson disease 7 [RCV003619135]	likely benign	1	7970914	7970914	Human	1	name
127318051	CV1131726	single nucleotide variant	NM_007262.5(PARK7):c.429G>A (p.Glu143=)	Autosomal recessive early-onset Parkinson disease 7 [RCV001483372]	likely benign	1	7984913	7984913	Human	1	name
150337445	CV1170774	deletion	NM_007262.5(PARK7):c.252+193_252+194del	not provided [RCV001541651]	benign	1	7969585	7969586	Human		name
150468660	CV1243031	deletion	NM_007262.5(PARK7):c.409+274_409+276del	not provided [RCV001650549]	benign	1	7977986	7977988	Human		name
150488679	CV1250419	deletion	NM_007262.5(PARK7):c.409+275_409+276del	not provided [RCV001674379]	benign	1	7977986	7977987	Human		name
150445782	CV1250564	deletion	NM_007262.5(PARK7):c.410-256_410-255del	not provided [RCV001667068]	benign	1	7984637	7984638	Human		name
150454159	CV1276951	deletion	NM_007262.5(PARK7):c.409+267_409+276del	not provided [RCV001708742]	benign	1	7977986	7977995	Human		name
150544064	CV1310154	single nucleotide variant	NM_007262.5(PARK7):c.83G>A (p.Arg28Gln)	Autosomal recessive early-onset Parkinson disease 7 [RCV001771782]	likely pathogenic	1	7962868	7962868	Human	1	name
151746989	CV1443925	single nucleotide variant	NM_007262.5(PARK7):c.82C>T (p.Arg28Ter)	Autosomal recessive early-onset Parkinson disease 7 [RCV001893894]	pathogenic	1	7962867	7962867	Human	1	name
156412414	CV1890567	single nucleotide variant	NM_007262.5(PARK7):c.300C>T (p.Gly100=)	Autosomal recessive early-onset Parkinson disease 7 [RCV003072882]	likely benign	1	7970941	7970941	Human	1	name
156205152	CV2103664	single nucleotide variant	NM_007262.5(PARK7):c.309C>T (p.Ala103=)	Autosomal recessive early-onset Parkinson disease 7 [RCV002931835]	likely benign	1	7970950	7970950	Human	1	name
156227980	CV2115496	single nucleotide variant	NM_007262.5(PARK7):c.534G>A (p.Ala178=)	Autosomal recessive early-onset Parkinson disease 7 [RCV002918823]	likely benign	1	7985018	7985018	Human	1	name
8597329	CV22104	single nucleotide variant	NM_007262.5(PARK7):c.78G>A (p.Met26Ile)	Autosomal recessive early-onset Parkinson disease 7 [RCV000007481]	pathogenic	1	7962863	7962863	Human	1	name
11581386	CV281253	single nucleotide variant	NM_007262.5(PARK7):c.59T>C (p.Val20Ala)	Autosomal recessive early-onset Parkinson disease 7 [RCV000367784]	uncertain significance	1	7962844	7962844	Human	1	name
11582049	CV283116	single nucleotide variant	NM_007262.5(PARK7):c.73G>A (p.Val25Ile)	Autosomal recessive early-onset Parkinson disease 7 [RCV000395718]	uncertain significance	1	7962858	7962858	Human	1	name
13820513	CV557376	duplication	NM_007262.5(PARK7):c.105dup (p.Ala36fs)	Autosomal recessive early-onset Parkinson disease 7 [RCV000694924]\|not provided [RCV002223913]	pathogenic	1	7965336	7965337	Human	1	name
14396649	CV612546	duplication	NM_007262.5(PARK7):c.189dup (p.Glu64fs)	not provided [RCV000761635]	likely pathogenic	1	7965415	7965416	Human		name
14721257	CV628270	single nucleotide variant	NM_007262.5(PARK7):c.28C>G (p.Leu10Val)	Autosomal recessive early-onset Parkinson disease 7 [RCV000797024]	uncertain significance	1	7962813	7962813	Human	1	name
15147126	CV690677	single nucleotide variant	NM_007262.5(PARK7):c.501A>G (p.Ala167=)	Autosomal recessive early-onset Parkinson disease 7 [RCV000878685]\|not provided [RCV003222163]	benign\|likely benign\|conflicting interpretations of pathogenicity	1	7984985	7984985	Human	1	name
21071182	CV794725	single nucleotide variant	NM_007262.5(PARK7):c.67G>A (p.Val23Ile)	not provided [RCV000993894]	uncertain significance	1	7962852	7962852	Human		name
28883746	CV864818	single nucleotide variant	NM_007262.5(PARK7):c.91A>G (p.Ile31Val)	Autosomal recessive early-onset Parkinson disease 7 [RCV001097593]	uncertain significance	1	7965324	7965324	Human	1	name
38486395	CV942104	single nucleotide variant	NM_007262.5(PARK7):c.56C>T (p.Thr19Met)	Autosomal recessive early-onset Parkinson disease 7 [RCV001237189]	uncertain significance	1	7962841	7962841	Human	1	name
151661798	CV1330029	single nucleotide variant	NM_007262.5(PARK7):c.253T>C (p.Ser85Pro)	Autosomal recessive early-onset Parkinson disease 7 [RCV001823440]	uncertain significance	1	7970894	7970894	Human	1	name
151830454	CV1362676	single nucleotide variant	NM_007262.5(PARK7):c.271A>G (p.Ile91Val)	Autosomal recessive early-onset Parkinson disease 7 [RCV001993665]	uncertain significance	1	7970912	7970912	Human	1	name
151776185	CV1398938	single nucleotide variant	NM_007262.5(PARK7):c.233G>A (p.Gly78Asp)	Autosomal recessive early-onset Parkinson disease 7 [RCV001929996]	uncertain significance	1	7969385	7969385	Human	1	name
156313765	CV1931376	single nucleotide variant	NM_007262.5(PARK7):c.142C>T (p.Arg48Cys)	Autosomal recessive early-onset Parkinson disease 7 [RCV002629932]	uncertain significance	1	7965375	7965375	Human	1	name
156339800	CV1984770	duplication	NM_007262.5(PARK7):c.444dup (p.Asp149fs)	Autosomal recessive early-onset Parkinson disease 7 [RCV002631373]	uncertain significance	1	7984923	7984924	Human	1	name
156021087	CV2111021	single nucleotide variant	NM_007262.5(PARK7):c.103G>A (p.Val35Ile)	Autosomal recessive early-onset Parkinson disease 7 [RCV002909615]\|not provided [RCV005002901]	uncertain significance	1	7965336	7965336	Human	1	name
8597331	CV22106	single nucleotide variant	NM_007262.5(PARK7):c.192G>C (p.Glu64Asp)	Autosomal recessive early-onset Parkinson disease 7 [RCV000007483]	pathogenic	1	7965425	7965425	Human	1	name
8597332	CV22108	single nucleotide variant	NM_007262.5(PARK7):c.115G>T (p.Ala39Ser)	Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 [RCV000007485]	pathogenic	1	7965348	7965348	Human	1	name
156356187	CV2320742	single nucleotide variant	NM_007262.5(PARK7):c.167C>T (p.Ala56Val)	Inborn genetic diseases [RCV002940649]	uncertain significance	1	7965400	7965400	Human	1	name
11653989	CV283317	single nucleotide variant	NM_007262.5(PARK7):c.223G>A (p.Gly75Ser)	Autosomal recessive early-onset Parkinson disease 7 [RCV000314256]	uncertain significance	1	7969375	7969375	Human	1	name
405772445	CV3364364	single nucleotide variant	NM_007262.5(PARK7):c.141C>G (p.Ser47Arg)	Inborn genetic diseases [RCV004502549]	uncertain significance	1	7965374	7965374	Human	1	name
597871259	CV3835584	single nucleotide variant	NM_007262.5(PARK7):c.292C>T (p.Arg98Trp)	Autosomal recessive early-onset Parkinson disease 7 [RCV005176575]	uncertain significance	1	7970933	7970933	Human	1	name
13481716	CV448380	single nucleotide variant	NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)	Autosomal recessive early-onset Parkinson disease 7 [RCV001083472]\|PARK7-related disorder [RCV003925652]\|Renal cysts and diabetes syndrome [RCV001258287]\|not provided [RCV000529085]\|not specified [RCV001579430]	benign\|likely benign	1	7970934	7970934	Human	2	name , trait , alternate_id
14396675	CV612547	single nucleotide variant	NM_007262.5(PARK7):c.218C>T (p.Pro73Leu)	not provided [RCV000761636]	uncertain significance	1	7969370	7969370	Human		name
15117791	CV690676	single nucleotide variant	NM_007262.5(PARK7):c.166G>A (p.Ala56Thr)	Autosomal recessive early-onset Parkinson disease 7 [RCV002064736]\|not provided [RCV000873564]\|not specified [RCV004997432]	benign\|likely benign	1	7965399	7965399	Human	1	name
21071185	CV794726	single nucleotide variant	NM_007262.5(PARK7):c.101C>T (p.Thr34Ile)	Autosomal recessive early-onset Parkinson disease 7 [RCV001097594]\|not provided [RCV000993895]	uncertain significance	1	7965334	7965334	Human	1	name
28876876	CV861328	single nucleotide variant	NM_007262.5(PARK7):c.133C>T (p.Gln45Ter)	Amyotrophic lateral sclerosis-parkinsonism-dementia complex [RCV001095538]	pathogenic	1	7965366	7965366	Human	1	name
8643608	CV102612	single nucleotide variant	NM_007262.5(PARK7):c.399G>C (p.Met133Ile)	Parkinson disease, late-onset [RCV000082873]	uncertain significance	1	7977728	7977728	Human	1	name
127239524	CV1108786	single nucleotide variant	NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)	Young-onset Parkinson disease [RCV001449624]	likely pathogenic	1	7984944	7984944	Human	2	name
150431941	CV1246124	single nucleotide variant	NM_007262.5(PARK7):c.505G>T (p.Val169Phe)	not provided [RCV001663536]	uncertain significance	1	7984989	7984989	Human		name
151351612	CV1322072	single nucleotide variant	NM_007262.5(PARK7):c.302T>C (p.Leu101Pro)	Autosomal recessive early-onset Parkinson disease 7 [RCV001806694]	likely pathogenic	1	7970943	7970943	Human	1	name
151349424	CV1325354	single nucleotide variant	NM_007262.5(PARK7):c.322G>A (p.Gly108Ser)	Autosomal recessive early-onset Parkinson disease 7 [RCV001814642]	pathogenic	1	7970963	7970963	Human	1	name
151349426	CV1325356	single nucleotide variant	NM_007262.5(PARK7):c.377A>G (p.His126Arg)	Motor neuron disease [RCV001814644]	uncertain significance	1	7977706	7977706	Human	1	name
151863005	CV1353574	single nucleotide variant	NM_007262.5(PARK7):c.437T>G (p.Val146Gly)	Autosomal recessive early-onset Parkinson disease 7 [RCV001924245]	uncertain significance	1	7984921	7984921	Human	1	name
151787970	CV1386854	single nucleotide variant	NM_007262.5(PARK7):c.395A>G (p.Lys132Arg)	Autosomal recessive early-onset Parkinson disease 7 [RCV001931118]	uncertain significance	1	7977724	7977724	Human	1	name
151888416	CV1517099	single nucleotide variant	NM_007262.5(PARK7):c.328A>G (p.Thr110Ala)	Autosomal recessive early-onset Parkinson disease 7 [RCV002038397]	uncertain significance	1	7977657	7977657	Human	1	name
155641304	CV1709622	single nucleotide variant	NM_007262.5(PARK7):c.433C>A (p.Arg145Ser)	not provided [RCV002292722]	uncertain significance	1	7984917	7984917	Human		name
156315686	CV1928346	single nucleotide variant	NM_007262.5(PARK7):c.515T>A (p.Leu172Gln)	Autosomal recessive early-onset Parkinson disease 7 [RCV002630047]	uncertain significance	1	7984999	7984999	Human	1	name
156347766	CV2005296	single nucleotide variant	NM_007262.5(PARK7):c.482G>C (p.Ser161Thr)	Autosomal recessive early-onset Parkinson disease 7 [RCV002650662]	uncertain significance	1	7984966	7984966	Human	1	name
156027993	CV2109015	single nucleotide variant	NM_007262.5(PARK7):c.494C>T (p.Ala165Val)	Autosomal recessive early-onset Parkinson disease 7 [RCV002909932]	uncertain significance	1	7984978	7984978	Human	1	name
8597328	CV22103	single nucleotide variant	NM_007262.5(PARK7):c.497T>C (p.Leu166Pro)	Autosomal recessive early-onset Parkinson disease 7 [RCV000007480]	pathogenic	1	7984981	7984981	Human	1	name
8597330	CV22105	single nucleotide variant	NM_007262.5(PARK7):c.446A>C (p.Asp149Ala)	Autosomal recessive early-onset Parkinson disease 7 [RCV000007482]	pathogenic\|likely benign	1	7984930	7984930	Human	1	name
156074371	CV2365526	single nucleotide variant	NM_007262.5(PARK7):c.325C>T (p.Pro109Ser)	Inborn genetic diseases [RCV003000920]	uncertain significance	1	7977654	7977654	Human	1	name
11654706	CV283318	single nucleotide variant	NM_007262.5(PARK7):c.500C>G (p.Ala167Gly)	Autosomal recessive early-onset Parkinson disease 7 [RCV000319811]	uncertain significance	1	7984984	7984984	Human	1	name
401962699	CV2845321	single nucleotide variant	NM_007262.5(PARK7):c.317G>A (p.Cys106Tyr)	not provided [RCV003482782]	uncertain significance	1	7970958	7970958	Human		name
597703067	CV3571486	single nucleotide variant	NM_007262.5(PARK7):c.467G>A (p.Arg156Gln)	Inborn genetic diseases [RCV004956910]	uncertain significance	1	7984951	7984951	Human	1	name
597703075	CV3571487	single nucleotide variant	NM_007262.5(PARK7):c.553C>T (p.Leu185Phe)	Inborn genetic diseases [RCV004956911]	uncertain significance	1	7985037	7985037	Human	1	name
598185120	CV4002037	single nucleotide variant	NM_007262.5(PARK7):c.533C>T (p.Ala178Val)	Inborn genetic diseases [RCV005395558]	uncertain significance	1	7985017	7985017	Human	1	name
13805144	CV557378	single nucleotide variant	NM_007262.5(PARK7):c.448G>A (p.Gly150Ser)	Autosomal recessive early-onset Parkinson disease 7 [RCV000699924]	uncertain significance	1	7984932	7984932	Human	1	name
13817121	CV558597	single nucleotide variant	NM_007262.5(PARK7):c.511G>T (p.Ala171Ser)	Autosomal recessive early-onset Parkinson disease 7 [RCV000706809]	uncertain significance	1	7984995	7984995	Human	1	name
14718358	CV628271	single nucleotide variant	NM_007262.5(PARK7):c.310G>A (p.Ala104Thr)	Autosomal recessive early-onset Parkinson disease 7 [RCV000795779]\|not provided [RCV004691298]	uncertain significance	1	7970951	7970951	Human	1	name
26920259	CV824426	single nucleotide variant	NM_007262.5(PARK7):c.535G>A (p.Ala179Thr)	Autosomal recessive early-onset Parkinson disease 7 [RCV001059800]\|not provided [RCV001563335]\|not specified [RCV003479275]	uncertain significance	1	7985019	7985019	Human	1	name
28879473	CV858964	single nucleotide variant	NM_007262.5(PARK7):c.436G>A (p.Val146Met)	not provided [RCV001090797]	uncertain significance	1	7984920	7984920	Human		name
28883755	CV864819	single nucleotide variant	NM_007262.5(PARK7):c.425C>T (p.Ser142Phe)	Autosomal recessive early-onset Parkinson disease 7 [RCV001097595]	uncertain significance	1	7984909	7984909	Human	1	name
28889230	CV864820	single nucleotide variant	NM_007262.5(PARK7):c.502A>G (p.Ile168Val)	Autosomal recessive early-onset Parkinson disease 7 [RCV001099353]\|not provided [RCV003883552]	uncertain significance	1	7984986	7984986	Human	1	name
13470523	CV440521	microsatellite	NM_007262.5(PARK7):c.191_192del (p.Glu64fs)	Autosomal recessive early-onset Parkinson disease 7 [RCV001027964]\|not provided [RCV000517567]	pathogenic\|likely pathogenic	1	7965422	7965423	Human		name
40890104	CV974988	deletion	NM_007262.5(PARK7):c.471_473del (p.Pro158del)	Autosomal recessive early-onset Parkinson disease 7 [RCV001542552]\|not provided [RCV001268696]	likely pathogenic\|conflicting interpretations of pathogenicity	1	7984955	7984957	Human	1	name

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