| 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 |