| 11589059 | CV278542 | single nucleotide variant | NM_032409.3(PINK1):c.*18G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV000308009] | uncertain significance | 1 | 20650709 | 20650709 | Human | 1 | name , alternate_id |
| 11665416 | CV278644 | single nucleotide variant | NM_032409.3(PINK1):c.*37A>T | Autosomal recessive early-onset Parkinson disease 6 [RCV001096692]|Congenital disorder of glycosylation [RCV000269899]|Parkinson Disease, Recessive [RCV000362726]|not provided [RCV001660567]|not specified [RCV004597773] | benign | 1 | 20650728 | 20650728 | Human | 3 | name , alternate_id |
| 28880912 | CV863354 | single nucleotide variant | NM_032409.3(PINK1):c.*40G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001096693]|not provided [RCV001707862] | benign|likely benign | 1 | 20650731 | 20650731 | Human | 1 | name , alternate_id |
| 28880916 | CV863355 | single nucleotide variant | NM_032409.3(PINK1):c.*64G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001096694] | uncertain significance | 1 | 20650755 | 20650755 | Human | 1 | name , alternate_id |
| 11661278 | CV278543 | single nucleotide variant | NM_032409.3(PINK1):c.*510G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV000375003] | uncertain significance | 1 | 20651201 | 20651201 | Human | 1 | name , alternate_id |
| 11658681 | CV278549 | deletion | NM_032409.3(PINK1):c.*571del | Parkinson Disease, Recessive [RCV000350731] | uncertain significance | 1 | 20651261 | 20651261 | Human | 1 | name |
| 11649516 | CV278550 | single nucleotide variant | NM_032409.3(PINK1):c.*613A>G | Autosomal recessive early-onset Parkinson disease 6 [RCV000287685] | uncertain significance | 1 | 20651304 | 20651304 | Human | 1 | name , alternate_id |
| 11593274 | CV278551 | single nucleotide variant | NM_032409.3(PINK1):c.*655T>C | Autosomal recessive early-onset Parkinson disease 6 [RCV000347366] | uncertain significance | 1 | 20651346 | 20651346 | Human | 1 | name , alternate_id |
| 11597274 | CV278559 | single nucleotide variant | NM_032409.3(PINK1):c.*807T>C | Autosomal recessive early-onset Parkinson disease 6 [RCV000392272] | uncertain significance | 1 | 20651498 | 20651498 | Human | 1 | name , alternate_id |
| 11666013 | CV278645 | single nucleotide variant | NM_032409.3(PINK1):c.*181C>G | Autosomal recessive early-onset Parkinson disease 6 [RCV001096696]|Congenital disorder of glycosylation [RCV000327294]|Parkinson Disease, Recessive [RCV000309593]|not provided [RCV001642906] | benign | 1 | 20650872 | 20650872 | Human | 3 | name , alternate_id |
| 11666595 | CV278656 | single nucleotide variant | NM_032409.3(PINK1):c.*196T>C | Autosomal recessive early-onset Parkinson disease 6 [RCV001098426]|Congenital disorder of glycosylation [RCV000384143]|Parkinson Disease, Recessive [RCV000359766]|not provided [RCV001536526] | benign|likely benign | 1 | 20650887 | 20650887 | Human | 3 | name , alternate_id |
| 11590988 | CV278657 | single nucleotide variant | NM_032409.3(PINK1):c.*349G>C | Autosomal recessive early-onset Parkinson disease 6 [RCV000324669]|not provided [RCV002285305] | likely benign|uncertain significance | 1 | 20651040 | 20651040 | Human | 1 | name , alternate_id |
| 11665247 | CV278658 | single nucleotide variant | NM_032409.3(PINK1):c.*415C>G | Autosomal recessive early-onset Parkinson disease 6 [RCV001098431]|Congenital disorder of glycosylation [RCV000331316]|Parkinson Disease, Recessive [RCV000261476]|not provided [RCV001683178] | benign|likely benign | 1 | 20651106 | 20651106 | Human | 3 | name , alternate_id |
| 11666112 | CV278672 | single nucleotide variant | NM_032409.3(PINK1):c.*490A>C | Autosomal recessive early-onset Parkinson disease 6 [RCV001100196]|Congenital disorder of glycosylation [RCV000388055]|Parkinson Disease, Recessive [RCV000316648]|not provided [RCV001683179] | benign|likely benign | 1 | 20651181 | 20651181 | Human | 3 | name , alternate_id |
| 11591624 | CV278676 | single nucleotide variant | NM_032409.3(PINK1):c.*532G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001100198]|Parkinson Disease, Recessive [RCV000330748] | likely benign|uncertain significance | 1 | 20651223 | 20651223 | Human | 2 | name , alternate_id |
| 11596695 | CV278678 | single nucleotide variant | NM_032409.3(PINK1):c.*534A>G | Autosomal recessive early-onset Parkinson disease 6 [RCV000385346] | uncertain significance | 1 | 20651225 | 20651225 | Human | 1 | name , alternate_id |
| 11598252 | CV279962 | single nucleotide variant | NM_032409.3(PINK1):c.*121G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV000403213] | uncertain significance | 1 | 20650812 | 20650812 | Human | 1 | name , alternate_id |
| 11665322 | CV279965 | single nucleotide variant | NM_032409.3(PINK1):c.*265G>T | Autosomal recessive early-onset Parkinson disease 6 [RCV001098428]|Congenital disorder of glycosylation [RCV000292658]|Parkinson Disease, Recessive [RCV000265104]|not provided [RCV001651339] | benign|likely benign | 1 | 20650956 | 20650956 | Human | 3 | name , alternate_id |
| 11665813 | CV279966 | single nucleotide variant | NM_032409.3(PINK1):c.*564T>G | Autosomal recessive early-onset Parkinson disease 6 [RCV001100200]|Congenital disorder of glycosylation [RCV000296156]|Parkinson Disease, Recessive [RCV000295846]|not provided [RCV001683180] | benign|likely benign | 1 | 20651255 | 20651255 | Human | 3 | name , alternate_id |
| 11665589 | CV279967 | single nucleotide variant | NM_032409.3(PINK1):c.*672T>C | Autosomal recessive early-onset Parkinson disease 6 [RCV001102187]|Congenital disorder of glycosylation [RCV000280759]|Parkinson Disease, Recessive [RCV000303492]|not provided [RCV001651340] | benign|likely benign | 1 | 20651363 | 20651363 | Human | 3 | name , alternate_id |
| 28880922 | CV863356 | single nucleotide variant | NM_032409.3(PINK1):c.*113G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001096695] | uncertain significance | 1 | 20650804 | 20650804 | Human | 1 | name , alternate_id |
| 28886326 | CV863357 | single nucleotide variant | NM_032409.3(PINK1):c.*263C>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001098427] | uncertain significance | 1 | 20650954 | 20650954 | Human | 1 | name , alternate_id |
| 28886333 | CV863358 | single nucleotide variant | NM_032409.3(PINK1):c.*340C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV001098429] | uncertain significance | 1 | 20651031 | 20651031 | Human | 1 | name , alternate_id |
| 28886338 | CV863359 | single nucleotide variant | NM_032409.3(PINK1):c.*352G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001098430] | uncertain significance | 1 | 20651043 | 20651043 | Human | 1 | name , alternate_id |
| 28891473 | CV863360 | single nucleotide variant | NM_032409.3(PINK1):c.*519G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001100197] | uncertain significance | 1 | 20651210 | 20651210 | Human | 1 | name , alternate_id |
| 28891480 | CV863361 | single nucleotide variant | NM_032409.3(PINK1):c.*542G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001100199] | uncertain significance | 1 | 20651233 | 20651233 | Human | 1 | name , alternate_id |
| 28891486 | CV863362 | single nucleotide variant | NM_032409.3(PINK1):c.*571C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV001100201] | pathogenic|uncertain significance | 1 | 20651262 | 20651262 | Human | 1 | name , alternate_id |
| 28896381 | CV863363 | single nucleotide variant | NM_032409.3(PINK1):c.*579C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV001102185] | uncertain significance | 1 | 20651270 | 20651270 | Human | 1 | name , alternate_id |
| 28896386 | CV863364 | single nucleotide variant | NM_032409.3(PINK1):c.*586T>C | Autosomal recessive early-onset Parkinson disease 6 [RCV001102186] | uncertain significance | 1 | 20651277 | 20651277 | Human | 1 | name , alternate_id |
| 28896390 | CV863365 | single nucleotide variant | NM_032409.3(PINK1):c.*702G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001102188] | uncertain significance | 1 | 20651393 | 20651393 | Human | 1 | name , alternate_id |
| 28896394 | CV863366 | single nucleotide variant | NM_032409.3(PINK1):c.*817C>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001102189] | pathogenic|uncertain significance | 1 | 20651508 | 20651508 | Human | 1 | name , alternate_id |
| 126767372 | CV1002435 | single nucleotide variant | NM_032409.3(PINK1):c.388-3C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV001320820] | uncertain significance | 1 | 20637839 | 20637839 | Human | 1 | name , alternate_id |
| 151816033 | CV1427139 | single nucleotide variant | NM_032409.3(PINK1):c.959+4A>T | Autosomal recessive early-onset Parkinson disease 6 [RCV001878746] | uncertain significance | 1 | 20644676 | 20644676 | Human | 1 | name , alternate_id |
| 152047239 | CV1656727 | single nucleotide variant | NM_032409.3(PINK1):c.675+8C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV002126790] | likely benign | 1 | 20638137 | 20638137 | Human | 1 | name , alternate_id |
| 156327468 | CV1887385 | single nucleotide variant | NM_032409.3(PINK1):c.388-3C>A | Autosomal recessive early-onset Parkinson disease 6 [RCV003089580] | uncertain significance | 1 | 20637839 | 20637839 | Human | 1 | name , alternate_id |
| 156435431 | CV1940756 | single nucleotide variant | NM_032409.3(PINK1):c.675+9C>A | Autosomal recessive early-onset Parkinson disease 6 [RCV003104861] | likely benign | 1 | 20638138 | 20638138 | Human | 1 | name , alternate_id |
| 155955931 | CV2040128 | single nucleotide variant | NM_032409.3(PINK1):c.387+5G>C | Autosomal recessive early-onset Parkinson disease 6 [RCV002776017] | uncertain significance | 1 | 20633940 | 20633940 | Human | 1 | name , alternate_id |
| 156045503 | CV2094329 | single nucleotide variant | NM_032409.3(PINK1):c.388-5C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV002885976] | likely benign | 1 | 20637837 | 20637837 | Human | 1 | name , alternate_id |
| 156135888 | CV2165643 | single nucleotide variant | NM_032409.3(PINK1):c.960-8T>A | Autosomal recessive early-onset Parkinson disease 6 [RCV003022349] | uncertain significance | 1 | 20645552 | 20645552 | Human | 1 | name , alternate_id |
| 11552386 | CV249677 | single nucleotide variant | NM_032409.3(PINK1):c.388-7A>G | Autosomal recessive early-onset Parkinson disease 6 [RCV000270301]|not provided [RCV000992540]|not specified [RCV000254305] | benign | 1 | 20637835 | 20637835 | Human | 1 | name , alternate_id |
| 11544760 | CV249678 | single nucleotide variant | NM_032409.3(PINK1):c.960-5G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV000286413]|not provided [RCV000992541]|not specified [RCV000244222] | benign | 1 | 20645555 | 20645555 | Human | 1 | name , alternate_id |
| 401907515 | CV2800111 | single nucleotide variant | NM_032409.3(PINK1):c.960-2A>G | Autosomal recessive early-onset Parkinson disease 6 [RCV005104287]|PINK1-related disorder [RCV003397247] | likely pathogenic | 1 | 20645558 | 20645558 | Human | 1 | name , trait , alternate_id |
| 405110806 | CV2880850 | single nucleotide variant | NM_032409.3(PINK1):c.960-4C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV003499267] | likely benign | 1 | 20645556 | 20645556 | Human | 1 | name , alternate_id |
| 404988580 | CV2973531 | single nucleotide variant | NM_032409.3(PINK1):c.776+1G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV003604241] | likely pathogenic | 1 | 20639993 | 20639993 | Human | 1 | name , alternate_id |
| 404990115 | CV2986763 | single nucleotide variant | NM_032409.3(PINK1):c.776+7G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV003604404] | likely benign | 1 | 20639999 | 20639999 | Human | 1 | name , alternate_id |
| 597965746 | CV3823567 | single nucleotide variant | NM_032409.3(PINK1):c.676-7G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV005164987] | likely benign | 1 | 20639885 | 20639885 | Human | 1 | name , alternate_id |
| 150420664 | CV1179168 | single nucleotide variant | NM_032409.3(PINK1):c.388-93C>T | not provided [RCV001551654] | likely benign | 1 | 20637749 | 20637749 | Human | | name |
| 150405957 | CV1192758 | single nucleotide variant | NM_032409.3(PINK1):c.675+50T>C | not provided [RCV001571866] | likely benign | 1 | 20638179 | 20638179 | Human | | name |
| 150416473 | CV1196524 | single nucleotide variant | NM_032409.3(PINK1):c.959+72G>C | not provided [RCV001575880] | likely benign | 1 | 20644744 | 20644744 | Human | | name |
| 150479061 | CV1240607 | duplication | NM_032409.3(PINK1):c.960-56dup | not provided [RCV001652482] | benign | 1 | 20645487 | 20645488 | Human | | name |
| 150510545 | CV1242410 | single nucleotide variant | NM_032409.3(PINK1):c.960-54G>A | not provided [RCV001660760] | benign | 1 | 20645506 | 20645506 | Human | | name |
| 150440968 | CV1246663 | single nucleotide variant | NM_032409.3(PINK1):c.676-77G>A | not provided [RCV001666316] | benign | 1 | 20639815 | 20639815 | Human | | name |
| 150504597 | CV1255270 | single nucleotide variant | NM_032409.3(PINK1):c.960-55C>A | not provided [RCV001677717] | benign | 1 | 20645505 | 20645505 | Human | | name |
| 150479809 | CV1258314 | single nucleotide variant | NM_032409.3(PINK1):c.388-65C>G | not provided [RCV001685733]|not specified [RCV004598094] | benign | 1 | 20637777 | 20637777 | Human | | name |
| 150462657 | CV1273041 | deletion | NM_032409.3(PINK1):c.960-56del | not provided [RCV001693798] | benign | 1 | 20645488 | 20645488 | Human | | name |
| 151822296 | CV1385283 | single nucleotide variant | NM_032409.3(PINK1):c.388-10C>G | Autosomal recessive early-onset Parkinson disease 6 [RCV001975854] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 20637832 | 20637832 | Human | 1 | name , alternate_id |
| 151716634 | CV1513106 | single nucleotide variant | NM_032409.3(PINK1):c.1123+4G>C | Autosomal recessive early-onset Parkinson disease 6 [RCV001890433] | uncertain significance | 1 | 20645727 | 20645727 | Human | 1 | name , alternate_id |
| 152089862 | CV1535729 | single nucleotide variant | NM_032409.3(PINK1):c.1251+9C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV002150450] | likely benign | 1 | 20648641 | 20648641 | Human | 1 | name , alternate_id |
| 152087039 | CV1601107 | single nucleotide variant | NM_032409.3(PINK1):c.960-17T>C | Autosomal recessive early-onset Parkinson disease 6 [RCV002093624] | likely benign | 1 | 20645543 | 20645543 | Human | 1 | name , alternate_id |
| 152051345 | CV1607064 | deletion | NM_032409.3(PINK1):c.960-18del | Autosomal recessive early-onset Parkinson disease 6 [RCV002109009] | likely benign | 1 | 20645540 | 20645540 | Human | 1 | name , alternate_id |
| 152176166 | CV1628349 | single nucleotide variant | NM_032409.3(PINK1):c.387+20A>G | Autosomal recessive early-onset Parkinson disease 6 [RCV002164307] | benign|likely benign | 1 | 20633955 | 20633955 | Human | 1 | name , alternate_id |
| 152159914 | CV1649954 | single nucleotide variant | NM_032409.3(PINK1):c.960-12C>A | Autosomal recessive early-onset Parkinson disease 6 [RCV002159455] | likely benign | 1 | 20645548 | 20645548 | Human | 1 | name , alternate_id |
| 152170588 | CV1651180 | single nucleotide variant | NM_032409.3(PINK1):c.960-13C>G | Autosomal recessive early-onset Parkinson disease 6 [RCV002143164] | likely benign | 1 | 20645547 | 20645547 | Human | 1 | name , alternate_id |
| 156222346 | CV1934313 | single nucleotide variant | NM_032409.3(PINK1):c.776+18G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV002644459] | likely benign | 1 | 20640010 | 20640010 | Human | 1 | name , alternate_id |
| 156213841 | CV2088896 | single nucleotide variant | NM_032409.3(PINK1):c.388-18A>G | Autosomal recessive early-onset Parkinson disease 6 [RCV002893905] | likely benign | 1 | 20637824 | 20637824 | Human | 1 | name , alternate_id |
| 156079844 | CV2098580 | single nucleotide variant | NM_032409.3(PINK1):c.387+15G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV002912664] | likely benign | 1 | 20633950 | 20633950 | Human | 1 | name , alternate_id |
| 156151908 | CV2150517 | single nucleotide variant | NM_032409.3(PINK1):c.676-17C>G | Autosomal recessive early-onset Parkinson disease 6 [RCV003022880] | likely benign | 1 | 20639875 | 20639875 | Human | 1 | name , alternate_id |
| 11666366 | CV278679 | microsatellite | NM_032409.3(PINK1):c.*725GA[4] | Congenital disorder of glycosylation [RCV000338171]|Parkinson Disease, Recessive [RCV000339669] | likely benign | 1 | 20651414 | 20651415 | Human | | name |
| 11581583 | CV279798 | single nucleotide variant | NM_032409.3(PINK1):c.960-11C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV000376299]|not provided [RCV001556973] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20645549 | 20645549 | Human | 1 | name , alternate_id |
| 11578492 | CV279803 | single nucleotide variant | NM_032409.3(PINK1):c.1251+5G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV000282458] | uncertain significance | 1 | 20648637 | 20648637 | Human | 1 | name , alternate_id |
| 597892301 | CV3822883 | single nucleotide variant | NM_032409.3(PINK1):c.959+12C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV005179959] | likely benign | 1 | 20644684 | 20644684 | Human | 1 | name , alternate_id |
| 15170538 | CV758890 | single nucleotide variant | NM_032409.3(PINK1):c.776+10C>T | not provided [RCV000926251] | likely benign | 1 | 20640002 | 20640002 | Human | | name |
| 28890981 | CV865097 | single nucleotide variant | NM_032409.3(PINK1):c.387+14G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001100004]|not provided [RCV002462329] | benign|likely benign | 1 | 20633949 | 20633949 | Human | 1 | name , alternate_id |
| 28880569 | CV865098 | single nucleotide variant | NM_032409.3(PINK1):c.960-11C>G | Autosomal recessive early-onset Parkinson disease 6 [RCV001096589] | uncertain significance | 1 | 20645549 | 20645549 | Human | 1 | name , alternate_id |
| 38470447 | CV939792 | single nucleotide variant | NM_032409.3(PINK1):c.1252-1G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001202589] | pathogenic|likely pathogenic | 1 | 20648994 | 20648994 | Human | 1 | name , alternate_id |
| 38481982 | CV959540 | single nucleotide variant | NM_032409.3(PINK1):c.1488+1G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001235370] | pathogenic | 1 | 20649232 | 20649232 | Human | 1 | name , alternate_id |
| 126728019 | CV1015628 | single nucleotide variant | NM_032409.3(PINK1):c.1123+19A>G | Autosomal recessive early-onset Parkinson disease 6 [RCV001332674] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 20645742 | 20645742 | Human | 1 | name , alternate_id |
| 150336800 | CV1170651 | single nucleotide variant | NM_032409.3(PINK1):c.676-240T>C | not provided [RCV001541199] | benign | 1 | 20639652 | 20639652 | Human | | name |
| 150514714 | CV1212107 | single nucleotide variant | NM_032409.3(PINK1):c.959+299C>T | not provided [RCV001599176] | benign | 1 | 20644971 | 20644971 | Human | | name |
| 150455871 | CV1220522 | single nucleotide variant | NM_032409.3(PINK1):c.675+167A>T | not provided [RCV001612615] | benign | 1 | 20638296 | 20638296 | Human | | name |
| 150517391 | CV1226841 | single nucleotide variant | NM_032409.3(PINK1):c.960-178G>A | not provided [RCV001639935] | benign | 1 | 20645382 | 20645382 | Human | | name |
| 150509087 | CV1229803 | single nucleotide variant | NM_032409.3(PINK1):c.676-299G>A | not provided [RCV001636382] | benign | 1 | 20639593 | 20639593 | Human | | name |
| 150458739 | CV1235979 | single nucleotide variant | NM_032409.3(PINK1):c.388-269G>A | not provided [RCV001648949] | benign | 1 | 20637573 | 20637573 | Human | | name |
| 150477428 | CV1240028 | single nucleotide variant | NM_032409.3(PINK1):c.960-142G>C | not provided [RCV001652206] | benign | 1 | 20645418 | 20645418 | Human | | name |
| 150482502 | CV1261631 | single nucleotide variant | NM_032409.3(PINK1):c.1252-25T>C | not provided [RCV001686234] | benign | 1 | 20648970 | 20648970 | Human | | name |
| 150486796 | CV1283674 | single nucleotide variant | NM_032409.3(PINK1):c.1251+43C>T | not provided [RCV001715844] | benign | 1 | 20648675 | 20648675 | Human | 1 | name |
| 150486796 | CV1283674 | single nucleotide variant | NM_032409.3(PINK1):c.1251+43C>T | not provided [RCV001715844] | benign | 1 | 20648675 | 20648676 | Human | 1 | name |
| 152072670 | CV1522674 | single nucleotide variant | NM_032409.3(PINK1):c.1251+19A>G | Autosomal recessive early-onset Parkinson disease 6 [RCV002148294] | likely benign | 1 | 20648651 | 20648651 | Human | 1 | name , alternate_id |
| 152109332 | CV1550933 | single nucleotide variant | NM_032409.3(PINK1):c.1488+17C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV002152828] | likely benign | 1 | 20649248 | 20649248 | Human | 1 | name , alternate_id |
| 152035041 | CV1590286 | single nucleotide variant | NM_032409.3(PINK1):c.1488+15G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV002205445] | likely benign | 1 | 20649246 | 20649246 | Human | 1 | name , alternate_id |
| 156391561 | CV1872881 | single nucleotide variant | NM_032409.3(PINK1):c.1123+12C>G | Autosomal recessive early-onset Parkinson disease 6 [RCV003051380] | likely benign | 1 | 20645735 | 20645735 | Human | 1 | name , alternate_id |
| 156409441 | CV1874193 | single nucleotide variant | NM_032409.3(PINK1):c.1488+14C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV003071675] | likely benign | 1 | 20649245 | 20649245 | Human | 1 | name , alternate_id |
| 156210419 | CV1929030 | single nucleotide variant | NM_032409.3(PINK1):c.1252-18C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV002643973] | likely benign | 1 | 20648977 | 20648977 | Human | 1 | name , alternate_id |
| 156410176 | CV1932195 | single nucleotide variant | NM_032409.3(PINK1):c.1123+11G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV002607783] | likely benign | 1 | 20645734 | 20645734 | Human | 1 | name , alternate_id |
| 156416052 | CV1983921 | single nucleotide variant | NM_032409.3(PINK1):c.1123+15C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV002609970] | likely benign | 1 | 20645738 | 20645738 | Human | 1 | name , alternate_id |
| 156113267 | CV2039046 | single nucleotide variant | NM_032409.3(PINK1):c.1124-10T>C | Autosomal recessive early-onset Parkinson disease 6 [RCV002785486] | likely benign | 1 | 20648495 | 20648495 | Human | 1 | name , alternate_id |
| 156059112 | CV2098370 | single nucleotide variant | NM_032409.3(PINK1):c.1488+20C>T | Autosomal recessive early-onset Parkinson disease 6 [RCV002886441] | likely benign | 1 | 20649251 | 20649251 | Human | 1 | name , alternate_id |
| 156017554 | CV2173869 | single nucleotide variant | NM_032409.3(PINK1):c.1252-20C>A | Autosomal recessive early-onset Parkinson disease 6 [RCV003035564] | likely benign | 1 | 20648975 | 20648975 | Human | 1 | name , alternate_id |
| 11580581 | CV273199 | single nucleotide variant | NM_032409.3(PINK1):c.1251+10G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV001089095]|not provided [RCV000347514] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20648642 | 20648642 | Human | 1 | name , alternate_id |
| 405111147 | CV2923199 | deletion | NM_032409.3(PINK1):c.1488+14del | Autosomal recessive early-onset Parkinson disease 6 [RCV003499323] | benign | 1 | 20649242 | 20649242 | Human | 1 | name , alternate_id |
| 150426327 | CV1186100 | single nucleotide variant | NM_032409.3(PINK1):c.1124-258A>G | not provided [RCV001559432] | likely benign | 1 | 20648247 | 20648247 | Human | | name |
| 150465290 | CV1201052 | single nucleotide variant | NM_032409.3(PINK1):c.1251+153C>T | not provided [RCV001587532] | likely benign | 1 | 20648785 | 20648785 | Human | | name |
| 150510345 | CV1211587 | deletion | NM_032409.3(PINK1):c.1124-159del | not provided [RCV001597379] | benign | 1 | 20648344 | 20648344 | Human | | name |
| 150513115 | CV1228903 | single nucleotide variant | NM_032409.3(PINK1):c.1124-196A>G | not provided [RCV001637745] | benign | 1 | 20648309 | 20648309 | Human | | name |
| 150440601 | CV1233409 | single nucleotide variant | NM_032409.3(PINK1):c.1488+296G>A | not provided [RCV001645097] | benign | 1 | 20649527 | 20649527 | Human | | name |
| 150459398 | CV1236090 | single nucleotide variant | NM_032409.3(PINK1):c.1123+124G>A | not provided [RCV001649061] | benign | 1 | 20645847 | 20645847 | Human | | name |
| 150443504 | CV1266405 | single nucleotide variant | NM_032409.3(PINK1):c.1489-168C>T | not provided [RCV001690841] | benign | 1 | 20650266 | 20650266 | Human | | name |
| 150459090 | CV1269745 | deletion | NM_032409.3(PINK1):c.1123+161del | not provided [RCV001693285] | benign | 1 | 20645881 | 20645881 | Human | | name |
| 243059576 | CV2406177 | single nucleotide variant | NM_032409.3(PINK1):c.776+2032G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV003134925] | uncertain significance | 1 | 20642024 | 20642024 | Human | 1 | name , alternate_id |
| 243059441 | CV2406178 | single nucleotide variant | NM_032409.3(PINK1):c.776+2110G>A | Autosomal recessive early-onset Parkinson disease 6 [RCV003134926] | uncertain significance | 1 | 20642102 | 20642102 | Human | 1 | name , alternate_id |
| 11582719 | CV278548 | microsatellite | NM_032409.3(PINK1):c.*530AAGT[4] | Parkinson Disease, Recessive [RCV000261692]|not provided [RCV004691177] | uncertain significance | 1 | 20651217 | 20651218 | Human | | name |
| 11666716 | CV278557 | duplication | NM_032409.3(PINK1):c.*673_*675dup | Congenital disorder of glycosylation [RCV000372882]|Parkinson Disease, Recessive [RCV000392261] | likely benign | 1 | 20651361 | 20651362 | Human | 2 | name |
| 11659741 | CV279814 | deletion | NM_032409.3(PINK1):c.*356_*357del | Parkinson Disease, Recessive [RCV000360734] | uncertain significance | 1 | 20651046 | 20651047 | Human | 1 | name |
| 11666326 | CV279815 | duplication | NM_032409.3(PINK1):c.*573_*576dup | Congenital disorder of glycosylation [RCV000334597]|Parkinson Disease, Recessive [RCV000382106] | likely benign | 1 | 20651261 | 20651262 | Human | 2 | name |
| 405104090 | CV2903078 | deletion | NM_032409.3(PINK1):c.1252-2_1272del | Autosomal recessive early-onset Parkinson disease 6 [RCV003497597] | likely pathogenic | 1 | 20648991 | 20649013 | Human | 1 | name , alternate_id |
| 405103976 | CV2902400 | single nucleotide variant | NM_032409.3(PINK1):c.24C>T (p.Gly8=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003497443] | likely benign | 1 | 20633572 | 20633572 | Human | 1 | name , alternate_id |
| 150406110 | CV1175807 | duplication | NM_032409.3(PINK1):c.960-59_960-56dup | not provided [RCV001545161] | likely benign | 1 | 20645487 | 20645488 | Human | | name |
| 150483463 | CV1245115 | duplication | NM_032409.3(PINK1):c.960-57_960-56dup | not provided [RCV001653292] | benign | 1 | 20645487 | 20645488 | Human | | name |
| 150432322 | CV1246253 | deletion | NM_032409.3(PINK1):c.776+38_776+40del | not provided [RCV001663666] | uncertain significance | 1 | 20640030 | 20640032 | Human | | name |
| 150510262 | CV1248591 | duplication | NM_032409.3(PINK1):c.960-58_960-56dup | not provided [RCV001659661] | benign | 1 | 20645487 | 20645488 | Human | | name |
| 150457223 | CV1278598 | deletion | NM_032409.3(PINK1):c.388-65_388-64del | not provided [RCV001709213] | benign | 1 | 20637777 | 20637778 | Human | | name |
| 152061147 | CV1557603 | single nucleotide variant | NM_032409.3(PINK1):c.69C>G (p.Gly23=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002146790] | likely benign | 1 | 20633617 | 20633617 | Human | 1 | name , alternate_id |
| 405103864 | CV2902657 | single nucleotide variant | NM_032409.3(PINK1):c.63C>T (p.Phe21=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003497514] | likely benign | 1 | 20633611 | 20633611 | Human | 1 | name , alternate_id |
| 151828767 | CV1348328 | single nucleotide variant | NM_032409.3(PINK1):c.25C>G (p.Arg9Gly) | Autosomal recessive early-onset Parkinson disease 6 [RCV001870326] | uncertain significance | 1 | 20633573 | 20633573 | Human | 1 | name , alternate_id |
| 151803472 | CV1442512 | single nucleotide variant | NM_032409.3(PINK1):c.141C>G (p.Gly47=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002011781] | likely benign|uncertain significance | 1 | 20633689 | 20633689 | Human | 1 | name , alternate_id |
| 152055389 | CV1522600 | single nucleotide variant | NM_032409.3(PINK1):c.177C>T (p.Val59=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002146161] | likely benign | 1 | 20633725 | 20633725 | Human | 1 | name , alternate_id |
| 156091295 | CV2017725 | single nucleotide variant | NM_032409.3(PINK1):c.129G>A (p.Gly43=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002694951] | likely benign | 1 | 20633677 | 20633677 | Human | 1 | name , alternate_id |
| 11548616 | CV249676 | single nucleotide variant | NM_032409.3(PINK1):c.189C>T (p.Leu63=) | Autosomal recessive early-onset Parkinson disease 6 [RCV000576424]|not provided [RCV001536653]|not specified [RCV000249312] | benign|likely benign | 1 | 20633737 | 20633737 | Human | 1 | name , alternate_id |
| 11582284 | CV278531 | single nucleotide variant | NM_032409.3(PINK1):c.165G>A (p.Glu55=) | Autosomal recessive early-onset Parkinson disease 6 [RCV000875741] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20633713 | 20633713 | Human | 1 | name , alternate_id |
| 401935430 | CV2812420 | single nucleotide variant | NM_032409.3(PINK1):c.241T>C (p.Leu81=) | not provided [RCV003412858] | likely benign | 1 | 20633789 | 20633789 | Human | | name |
| 405202628 | CV3165100 | single nucleotide variant | NM_032409.3(PINK1):c.285T>G (p.Pro95=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003860961] | likely benign | 1 | 20633833 | 20633833 | Human | 1 | name , alternate_id |
| 597872123 | CV3805262 | single nucleotide variant | NM_032409.3(PINK1):c.17C>T (p.Ala6Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV005148540] | uncertain significance | 1 | 20633565 | 20633565 | Human | 1 | name , alternate_id |
| 597852711 | CV3805715 | single nucleotide variant | NM_032409.3(PINK1):c.228G>A (p.Gly76=) | Autosomal recessive early-onset Parkinson disease 6 [RCV005145645] | likely benign | 1 | 20633776 | 20633776 | Human | 1 | name , alternate_id |
| 597917485 | CV3842093 | single nucleotide variant | NM_032409.3(PINK1):c.186G>T (p.Gly62=) | Autosomal recessive early-onset Parkinson disease 6 [RCV005183768] | likely benign | 1 | 20633734 | 20633734 | Human | 1 | name , alternate_id |
| 14732791 | CV627313 | single nucleotide variant | NM_032409.3(PINK1):c.13C>T (p.Gln5Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV000818442] | pathogenic | 1 | 20633561 | 20633561 | Human | 1 | name , alternate_id |
| 15167991 | CV690470 | single nucleotide variant | NM_032409.3(PINK1):c.153A>G (p.Gly51=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002501324] | likely benign | 1 | 20633701 | 20633701 | Human | 1 | name , alternate_id |
| 15168397 | CV690471 | single nucleotide variant | NM_032409.3(PINK1):c.267C>T (p.Ala89=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001100002] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20633815 | 20633815 | Human | 1 | name , alternate_id |
| 28890978 | CV863342 | single nucleotide variant | NM_032409.3(PINK1):c.279G>C (p.Ala93=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001100003] | uncertain significance | 1 | 20633827 | 20633827 | Human | 1 | name , alternate_id |
| 126748808 | CV1002434 | single nucleotide variant | NM_032409.3(PINK1):c.76G>C (p.Gly26Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV001315604] | uncertain significance | 1 | 20633624 | 20633624 | Human | 1 | name , alternate_id |
| 127250257 | CV1088405 | single nucleotide variant | NM_032409.3(PINK1):c.426G>A (p.Pro142=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001436294]|not provided [RCV001815550] | likely benign | 1 | 20637880 | 20637880 | Human | 1 | name , alternate_id |
| 127312477 | CV1109919 | single nucleotide variant | NM_032409.3(PINK1):c.435G>A (p.Thr145=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001464411] | likely benign | 1 | 20637889 | 20637889 | Human | 1 | name , alternate_id |
| 127309349 | CV1109920 | single nucleotide variant | NM_032409.3(PINK1):c.690C>T (p.Ser230=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001463584] | likely benign | 1 | 20639906 | 20639906 | Human | 1 | name , alternate_id |
| 127293524 | CV1130817 | single nucleotide variant | NM_032409.3(PINK1):c.624T>C (p.Ala208=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001496804] | likely benign | 1 | 20638078 | 20638078 | Human | 1 | name , alternate_id |
| 127334594 | CV1130818 | single nucleotide variant | NM_032409.3(PINK1):c.942G>A (p.Leu314=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001490942] | likely benign | 1 | 20644655 | 20644655 | Human | 1 | name , alternate_id |
| 150547497 | CV1303676 | single nucleotide variant | NM_032409.3(PINK1):c.915T>A (p.Pro305=) | not provided [RCV001763779] | uncertain significance | 1 | 20644628 | 20644628 | Human | | name |
| 151853594 | CV1457081 | single nucleotide variant | NM_032409.3(PINK1):c.47C>T (p.Ala16Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV001883055]|Inborn genetic diseases [RCV003365489] | likely benign|uncertain significance | 1 | 20633595 | 20633595 | Human | 2 | name , alternate_id |
| 151737891 | CV1500543 | single nucleotide variant | NM_032409.3(PINK1):c.630G>T (p.Gly210=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001984939] | likely benign|uncertain significance | 1 | 20638084 | 20638084 | Human | 1 | name , alternate_id |
| 152059382 | CV1532725 | single nucleotide variant | NM_032409.3(PINK1):c.736C>A (p.Arg246=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002208467] | likely benign | 1 | 20639952 | 20639952 | Human | 1 | name , alternate_id |
| 152097403 | CV1542262 | single nucleotide variant | NM_032409.3(PINK1):c.504T>C (p.Ala168=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002195103]|not provided [RCV004711761] | likely benign | 1 | 20637958 | 20637958 | Human | 1 | name , alternate_id |
| 152133210 | CV1545285 | single nucleotide variant | NM_032409.3(PINK1):c.546G>A (p.Leu182=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002119350] | likely benign | 1 | 20638000 | 20638000 | Human | 1 | name , alternate_id |
| 152164039 | CV1560410 | single nucleotide variant | NM_032409.3(PINK1):c.315G>A (p.Gly105=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002160167] | likely benign | 1 | 20633863 | 20633863 | Human | 1 | name , alternate_id |
| 152153128 | CV1592707 | single nucleotide variant | NM_032409.3(PINK1):c.429G>A (p.Leu143=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002202287] | likely benign | 1 | 20637883 | 20637883 | Human | 1 | name , alternate_id |
| 152119942 | CV1654856 | single nucleotide variant | NM_032409.3(PINK1):c.627G>A (p.Pro209=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002216640] | likely benign | 1 | 20638081 | 20638081 | Human | 1 | name , alternate_id |
| 156412995 | CV1891508 | single nucleotide variant | NM_032409.3(PINK1):c.654C>T (p.Ile218=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003073114] | likely benign | 1 | 20638108 | 20638108 | Human | 1 | name , alternate_id |
| 155983349 | CV2030237 | single nucleotide variant | NM_032409.3(PINK1):c.639C>T (p.Ala213=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002755427] | likely benign | 1 | 20638093 | 20638093 | Human | 1 | name , alternate_id |
| 156371721 | CV2031174 | single nucleotide variant | NM_032409.3(PINK1):c.384C>A (p.Ile128=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002721568] | likely benign | 1 | 20633932 | 20633932 | Human | 1 | name , alternate_id |
| 155998778 | CV2092079 | single nucleotide variant | NM_032409.3(PINK1):c.65C>T (p.Thr22Met) | Autosomal recessive early-onset Parkinson disease 6 [RCV002908522] | uncertain significance | 1 | 20633613 | 20633613 | Human | 1 | name , alternate_id |
| 155905291 | CV2134486 | single nucleotide variant | NM_032409.3(PINK1):c.837C>T (p.Arg279=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002967673] | likely benign | 1 | 20644550 | 20644550 | Human | 1 | name , alternate_id |
| 156151628 | CV2209295 | single nucleotide variant | NM_032409.3(PINK1):c.85T>G (p.Tyr29Asp) | Inborn genetic diseases [RCV002697681] | uncertain significance | 1 | 20633633 | 20633633 | Human | 1 | name |
| 156235533 | CV2224050 | single nucleotide variant | NM_032409.3(PINK1):c.91T>G (p.Leu31Val) | Inborn genetic diseases [RCV002713041] | uncertain significance | 1 | 20633639 | 20633639 | Human | 1 | name |
| 11636934 | CV267410 | single nucleotide variant | NM_032409.3(PINK1):c.417G>T (p.Gly139=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002059126]|not provided [RCV000276153] | likely benign|uncertain significance | 1 | 20637871 | 20637871 | Human | 1 | name , alternate_id |
| 11577958 | CV273569 | single nucleotide variant | NM_032409.3(PINK1):c.858G>A (p.Pro286=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001078680]|not provided [RCV000712568] | benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20644571 | 20644571 | Human | 1 | name , alternate_id |
| 11643205 | CV275442 | single nucleotide variant | NM_032409.3(PINK1):c.31C>A (p.Leu11Met) | not provided [RCV000389665] | uncertain significance | 1 | 20633579 | 20633579 | Human | | name |
| 11581405 | CV278529 | single nucleotide variant | NM_032409.3(PINK1):c.88G>C (p.Gly30Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV000983814]|not provided [RCV003409446] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20633636 | 20633636 | Human | 1 | name , alternate_id |
| 11580063 | CV278534 | single nucleotide variant | NM_032409.3(PINK1):c.936G>A (p.Arg312=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001087099]|not provided [RCV000712569] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20644649 | 20644649 | Human | 1 | name , alternate_id |
| 405109744 | CV2879158 | single nucleotide variant | NM_032409.3(PINK1):c.966C>G (p.Pro322=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003499073] | likely benign | 1 | 20645566 | 20645566 | Human | 1 | name , alternate_id |
| 405114365 | CV2890624 | single nucleotide variant | NM_032409.3(PINK1):c.741G>A (p.Val247=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003499869] | likely benign | 1 | 20639957 | 20639957 | Human | 1 | name , alternate_id |
| 405111078 | CV2922805 | single nucleotide variant | NM_032409.3(PINK1):c.88G>A (p.Gly30Ser) | Autosomal recessive early-onset Parkinson disease 6 [RCV003499312] | likely benign | 1 | 20633636 | 20633636 | Human | 1 | name , alternate_id |
| 404993436 | CV3011594 | single nucleotide variant | NM_032409.3(PINK1):c.426G>C (p.Pro142=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003604778] | likely benign | 1 | 20637880 | 20637880 | Human | 1 | name , alternate_id |
| 405051600 | CV3052670 | single nucleotide variant | NM_032409.3(PINK1):c.630G>A (p.Gly210=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003603551] | likely benign | 1 | 20638084 | 20638084 | Human | 1 | name , alternate_id |
| 404984600 | CV3059520 | single nucleotide variant | NM_032409.3(PINK1):c.531A>G (p.Thr177=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003603777] | likely benign | 1 | 20637985 | 20637985 | Human | 1 | name , alternate_id |
| 405202596 | CV3143673 | single nucleotide variant | NM_032409.3(PINK1):c.606A>G (p.Gly202=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003844659] | likely benign | 1 | 20638060 | 20638060 | Human | 1 | name , alternate_id |
| 597918882 | CV3737896 | single nucleotide variant | NM_032409.3(PINK1):c.615G>A (p.Gln205=) | Autosomal recessive early-onset Parkinson disease 6 [RCV005074495] | likely benign | 1 | 20638069 | 20638069 | Human | 1 | name , alternate_id |
| 597915692 | CV3767387 | single nucleotide variant | NM_032409.3(PINK1):c.885C>T (p.Tyr295=) | Autosomal recessive early-onset Parkinson disease 6 [RCV005114378] | likely benign | 1 | 20644598 | 20644598 | Human | 1 | name , alternate_id |
| 616939680 | CV4014177 | single nucleotide variant | NM_032409.3(PINK1):c.978C>T (p.Arg326=) | not provided [RCV005413669] | likely benign | 1 | 20645578 | 20645578 | Human | | name |
| 13485618 | CV440432 | single nucleotide variant | NM_032409.3(PINK1):c.67G>A (p.Gly23Ser) | Autosomal recessive early-onset Parkinson disease 6 [RCV001098230]|PINK1-related disorder [RCV003925545]|not specified [RCV000518777] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20633615 | 20633615 | Human | 1 | name , trait , alternate_id |
| 13496591 | CV447721 | single nucleotide variant | NM_032409.3(PINK1):c.804A>G (p.Leu268=) | Autosomal recessive early-onset Parkinson disease 6 [RCV000537959] | benign | 1 | 20644517 | 20644517 | Human | 1 | name , alternate_id |
| 13518686 | CV485990 | single nucleotide variant | NM_032409.3(PINK1):c.675G>A (p.Ser225=) | not provided [RCV000585016] | uncertain significance | 1 | 20638129 | 20638129 | Human | | name |
| 14712857 | CV627314 | deletion | NM_032409.3(PINK1):c.273del (p.Cys92fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV000822134] | pathogenic | 1 | 20633821 | 20633821 | Human | 1 | name , alternate_id |
| 15168039 | CV690472 | single nucleotide variant | NM_032409.3(PINK1):c.948C>T (p.Leu316=) | Autosomal recessive early-onset Parkinson disease 6 [RCV000873607] | benign | 1 | 20644661 | 20644661 | Human | 1 | name , alternate_id |
| 15168993 | CV718571 | single nucleotide variant | NM_032409.3(PINK1):c.537C>T (p.Pro179=) | Autosomal recessive early-onset Parkinson disease 6 [RCV000892728] | likely benign | 1 | 20637991 | 20637991 | Human | 1 | name , alternate_id |
| 15168453 | CV718572 | single nucleotide variant | NM_032409.3(PINK1):c.564C>T (p.Thr188=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001402357] | likely benign | 1 | 20638018 | 20638018 | Human | 1 | name , alternate_id |
| 15168598 | CV718573 | single nucleotide variant | NM_032409.3(PINK1):c.852C>T (p.Ser284=) | Autosomal recessive early-onset Parkinson disease 6 [RCV000884090] | likely benign | 1 | 20644565 | 20644565 | Human | 1 | name , alternate_id |
| 15169304 | CV732047 | single nucleotide variant | NM_032409.3(PINK1):c.939G>A (p.Thr313=) | not provided [RCV000899197] | likely benign | 1 | 20644652 | 20644652 | Human | | name |
| 28890984 | CV863343 | single nucleotide variant | NM_032409.3(PINK1):c.414G>A (p.Pro138=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001100005] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 20637868 | 20637868 | Human | 1 | name , alternate_id |
| 28895885 | CV863345 | single nucleotide variant | NM_032409.3(PINK1):c.813C>T (p.His271=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001101994] | uncertain significance | 1 | 20644526 | 20644526 | Human | 1 | name , alternate_id |
| 126728021 | CV1015627 | single nucleotide variant | NM_032409.3(PINK1):c.161C>A (p.Ala54Glu) | Autosomal recessive early-onset Parkinson disease 6 [RCV001332675] | uncertain significance | 1 | 20633709 | 20633709 | Human | 1 | name , alternate_id |
| 127331861 | CV1130819 | single nucleotide variant | NM_032409.3(PINK1):c.1530C>T (p.Ser510=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001489100] | likely benign | 1 | 20650475 | 20650475 | Human | 1 | name , alternate_id |
| 150446344 | CV1278301 | deletion | NM_032409.3(PINK1):c.1123+91_1123+104del | not provided [RCV001707444] | benign | 1 | 20645812 | 20645825 | Human | | name |
| 150546440 | CV1313742 | single nucleotide variant | NM_032409.3(PINK1):c.250C>T (p.Gln84Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV001784840] | pathogenic | 1 | 20633798 | 20633798 | Human | | name , alternate_id |
| 150543305 | CV1315177 | single nucleotide variant | NM_032409.3(PINK1):c.292C>T (p.Arg98Trp) | Autosomal recessive early-onset Parkinson disease 6 [RCV001782634] | likely pathogenic | 1 | 20633840 | 20633840 | Human | | name , alternate_id |
| 151812760 | CV1371641 | single nucleotide variant | NM_032409.3(PINK1):c.199C>T (p.Leu67Phe) | Autosomal recessive early-onset Parkinson disease 6 [RCV001933371] | uncertain significance | 1 | 20633747 | 20633747 | Human | 1 | name , alternate_id |
| 151803029 | CV1375412 | single nucleotide variant | NM_032409.3(PINK1):c.1167G>A (p.Leu389=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001953103] | likely benign|uncertain significance | 1 | 20648548 | 20648548 | Human | 1 | name , alternate_id |
| 151747065 | CV1443955 | single nucleotide variant | NM_032409.3(PINK1):c.101C>G (p.Pro34Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV001893903] | uncertain significance | 1 | 20633649 | 20633649 | Human | 1 | name , alternate_id |
| 151809616 | CV1483701 | single nucleotide variant | NM_032409.3(PINK1):c.116G>T (p.Gly39Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV001918474] | uncertain significance | 1 | 20633664 | 20633664 | Human | 1 | name , alternate_id |
| 152142385 | CV1538223 | single nucleotide variant | NM_032409.3(PINK1):c.1017C>T (p.Ala339=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002219545] | likely benign | 1 | 20645617 | 20645617 | Human | 1 | name , alternate_id |
| 152157368 | CV1541760 | single nucleotide variant | NM_032409.3(PINK1):c.1047C>A (p.Gly349=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002103131] | likely benign | 1 | 20645647 | 20645647 | Human | 1 | name , alternate_id |
| 152054481 | CV1574316 | single nucleotide variant | NM_032409.3(PINK1):c.1260G>A (p.Thr420=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002189796] | likely benign | 1 | 20649003 | 20649003 | Human | 1 | name , alternate_id |
| 152040827 | CV1577733 | single nucleotide variant | NM_032409.3(PINK1):c.1689G>A (p.Glu563=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002107717]|not provided [RCV003456517] | likely benign | 1 | 20650634 | 20650634 | Human | 1 | name , alternate_id |
| 152062920 | CV1587669 | single nucleotide variant | NM_032409.3(PINK1):c.1512A>C (p.Ala504=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002090479] | likely benign | 1 | 20650457 | 20650457 | Human | 1 | name , alternate_id |
| 152149118 | CV1593092 | single nucleotide variant | NM_032409.3(PINK1):c.1125C>T (p.Asp375=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002101948] | likely benign | 1 | 20648506 | 20648506 | Human | 1 | name , alternate_id |
| 152169102 | CV1614078 | single nucleotide variant | NM_032409.3(PINK1):c.1011C>T (p.Arg337=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002161335] | likely benign | 1 | 20645611 | 20645611 | Human | 1 | name , alternate_id |
| 152147354 | CV1635618 | single nucleotide variant | NM_032409.3(PINK1):c.1719C>T (p.Leu573=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002201432] | likely benign | 1 | 20650664 | 20650664 | Human | 1 | name , alternate_id |
| 152073809 | CV1638072 | single nucleotide variant | NM_032409.3(PINK1):c.1419A>G (p.Ala473=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002192147] | likely benign | 1 | 20649162 | 20649162 | Human | 1 | name , alternate_id |
| 152079207 | CV1666734 | single nucleotide variant | NM_032409.3(PINK1):c.139G>C (p.Gly47Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV002481026]|Inborn genetic diseases [RCV003101225]|See cases [RCV002252773]|not provided [RCV002211079] | uncertain significance | 1 | 20633687 | 20633687 | Human | 2 | name , alternate_id |
| 155697082 | CV1690800 | single nucleotide variant | NM_032409.3(PINK1):c.158G>A (p.Gly53Asp) | Autosomal recessive early-onset Parkinson disease 6 [RCV002295373] | uncertain significance | 1 | 20633706 | 20633706 | Human | 1 | name , alternate_id |
| 10042527 | CV187107 | deletion | NM_032409.3(PINK1):c.620del (p.Arg207fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV000169671] | pathogenic | 1 | 20638074 | 20638074 | Human | 1 | name , alternate_id |
| 156387591 | CV1875669 | single nucleotide variant | NM_032409.3(PINK1):c.173G>A (p.Arg58Lys) | Autosomal recessive early-onset Parkinson disease 6 [RCV003050992]|Inborn genetic diseases [RCV004070278] | uncertain significance | 1 | 20633721 | 20633721 | Human | 2 | name , alternate_id |
| 156032021 | CV1889830 | single nucleotide variant | NM_032409.3(PINK1):c.1107T>C (p.Leu369=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003078146] | likely benign | 1 | 20645707 | 20645707 | Human | 1 | name , alternate_id |
| 155992208 | CV1894444 | single nucleotide variant | NM_032409.3(PINK1):c.288C>G (p.Cys96Trp) | Autosomal recessive early-onset Parkinson disease 6 [RCV003076166] | uncertain significance | 1 | 20633836 | 20633836 | Human | 1 | name , alternate_id |
| 156211260 | CV1902433 | single nucleotide variant | NM_032409.3(PINK1):c.1356C>T (p.Pro452=) | Autosomal recessive early-onset Parkinson disease 6 [RCV003084605] | uncertain significance | 1 | 20649099 | 20649099 | Human | 1 | name , alternate_id |
| 156088796 | CV1983920 | single nucleotide variant | NM_032409.3(PINK1):c.184G>C (p.Gly62Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV002609969]|Inborn genetic diseases [RCV002621788] | uncertain significance | 1 | 20633732 | 20633732 | Human | 2 | name , alternate_id |
| 156017931 | CV2019171 | single nucleotide variant | NM_032409.3(PINK1):c.202C>T (p.Arg68Cys) | Autosomal recessive early-onset Parkinson disease 6 [RCV002690857] | uncertain significance | 1 | 20633750 | 20633750 | Human | 1 | name , alternate_id |
| 156026184 | CV2043506 | single nucleotide variant | NM_032409.3(PINK1):c.1560G>A (p.Lys520=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002780907] | likely benign | 1 | 20650505 | 20650505 | Human | 1 | name , alternate_id |
| 156010180 | CV2079550 | single nucleotide variant | NM_032409.3(PINK1):c.1398C>T (p.Tyr466=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002866062] | likely benign | 1 | 20649141 | 20649141 | Human | 1 | name , alternate_id |
| 156091080 | CV2102671 | deletion | NM_032409.3(PINK1):c.710del (p.Met237fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV002913039] | pathogenic | 1 | 20639926 | 20639926 | Human | 1 | name , alternate_id |
| 156258009 | CV2369051 | single nucleotide variant | NM_032409.3(PINK1):c.196C>T (p.Arg66Cys) | Inborn genetic diseases [RCV003008762] | uncertain significance | 1 | 20633744 | 20633744 | Human | 1 | name |
| 156136281 | CV2380084 | single nucleotide variant | NM_032409.3(PINK1):c.223G>T (p.Ala75Ser) | Inborn genetic diseases [RCV002708782] | uncertain significance | 1 | 20633771 | 20633771 | Human | 1 | name |
| 401742142 | CV2738900 | single nucleotide variant | NM_032409.3(PINK1):c.112G>A (p.Ala38Thr) | Inborn genetic diseases [RCV004333277]|not provided [RCV003318294] | uncertain significance | 1 | 20633660 | 20633660 | Human | 1 | name |
| 11581018 | CV278541 | single nucleotide variant | NM_032409.3(PINK1):c.1698G>A (p.Thr566=) | Autosomal recessive early-onset Parkinson disease 6 [RCV000352418] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20650643 | 20650643 | Human | 1 | name , alternate_id |
| 11582331 | CV279812 | single nucleotide variant | NM_032409.3(PINK1):c.1719C>G (p.Leu573=) | Autosomal recessive early-onset Parkinson disease 6 [RCV000408162] | uncertain significance | 1 | 20650664 | 20650664 | Human | 1 | name , alternate_id |
| 405112801 | CV2888711 | single nucleotide variant | NM_032409.3(PINK1):c.113C>T (p.Ala38Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV003499599] | uncertain significance | 1 | 20633661 | 20633661 | Human | 1 | name , alternate_id |
| 404991454 | CV3077562 | deletion | NM_032409.3(PINK1):c.309del (p.Phe104fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV003604567] | pathogenic | 1 | 20633856 | 20633856 | Human | 1 | name , alternate_id |
| 405264144 | CV3189938 | single nucleotide variant | NM_032409.3(PINK1):c.1131C>T (p.Cys377=) | PINK1-related disorder [RCV003896983] | likely benign | 1 | 20648512 | 20648512 | Human | | name , trait , alternate_id |
| 405852607 | CV3396274 | single nucleotide variant | NM_032409.3(PINK1):c.263G>T (p.Arg88Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV004557227] | uncertain significance | 1 | 20633811 | 20633811 | Human | 1 | name , alternate_id |
| 596947969 | CV3547560 | single nucleotide variant | NM_032409.3(PINK1):c.131A>G (p.Glu44Gly) | not provided [RCV004811864] | uncertain significance | 1 | 20633679 | 20633679 | Human | | name |
| 12743133 | CV361332 | single nucleotide variant | NM_032409.3(PINK1):c.169C>T (p.Arg57Cys) | not provided [RCV000416055] | uncertain significance | 1 | 20633717 | 20633717 | Human | | name |
| 597756678 | CV3711150 | duplication | NM_032409.3(PINK1):c.440dup (p.Gln149fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV005017448] | likely pathogenic | 1 | 20637893 | 20637894 | Human | 1 | name , alternate_id |
| 597919157 | CV3737930 | single nucleotide variant | NM_032409.3(PINK1):c.1341C>T (p.Phe447=) | Autosomal recessive early-onset Parkinson disease 6 [RCV005074529] | likely benign | 1 | 20649084 | 20649084 | Human | 1 | name , alternate_id |
| 597866348 | CV3742447 | single nucleotide variant | NM_032409.3(PINK1):c.1230C>T (p.Asn410=) | Autosomal recessive early-onset Parkinson disease 6 [RCV005068063] | likely benign | 1 | 20648611 | 20648611 | Human | 1 | name , alternate_id |
| 597894057 | CV3763575 | single nucleotide variant | NM_032409.3(PINK1):c.1146C>A (p.Ile382=) | Autosomal recessive early-onset Parkinson disease 6 [RCV005111156] | likely benign | 1 | 20648527 | 20648527 | Human | 1 | name , alternate_id |
| 597933059 | CV3862161 | single nucleotide variant | NM_032409.3(PINK1):c.1509C>T (p.Ala503=) | Autosomal recessive early-onset Parkinson disease 6 [RCV005207025] | likely benign | 1 | 20650454 | 20650454 | Human | 1 | name , alternate_id |
| 13611144 | CV515409 | single nucleotide variant | NM_032409.3(PINK1):c.1173T>C (p.Asp391=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001087360]|not provided [RCV000712564] | benign|likely benign | 1 | 20648554 | 20648554 | Human | 1 | name , alternate_id |
| 13611139 | CV515514 | single nucleotide variant | NM_032409.3(PINK1):c.1488G>A (p.Lys496=) | Autosomal recessive early-onset Parkinson disease 6 [RCV000641729] | uncertain significance | 1 | 20649231 | 20649231 | Human | 1 | name , alternate_id |
| 13814457 | CV556768 | deletion | NM_032409.3(PINK1):c.599del (p.Ala200fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV000705048] | pathogenic | 1 | 20638053 | 20638053 | Human | 1 | name , alternate_id |
| 13810715 | CV576461 | single nucleotide variant | NM_032409.3(PINK1):c.155C>T (p.Pro52Leu) | not provided [RCV000712567] | uncertain significance | 1 | 20633703 | 20633703 | Human | | name |
| 13810711 | CV576462 | single nucleotide variant | NM_032409.3(PINK1):c.1362C>T (p.Tyr454=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002532933]|not provided [RCV000712565] | benign|likely benign | 1 | 20649105 | 20649105 | Human | 1 | name , alternate_id |
| 14692953 | CV619985 | deletion | NM_032409.3(PINK1):c.322del (p.Leu108fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV000778215] | uncertain significance | 1 | 20633870 | 20633870 | Human | | name , alternate_id |
| 15168193 | CV690473 | single nucleotide variant | NM_032409.3(PINK1):c.1077G>A (p.Ala359=) | Autosomal recessive early-onset Parkinson disease 6 [RCV000875233] | likely benign | 1 | 20645677 | 20645677 | Human | 1 | name , alternate_id |
| 15172085 | CV696419 | single nucleotide variant | NM_032409.3(PINK1):c.1549C>T (p.Leu517=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001407761]|PINK1-related disorder [RCV003978230] | likely benign | 1 | 20650494 | 20650494 | Human | 1 | name , trait , alternate_id |
| 15173195 | CV780458 | single nucleotide variant | NM_032409.3(PINK1):c.1605G>A (p.Ser535=) | Autosomal recessive early-onset Parkinson disease 6 [RCV002068706] | likely benign | 1 | 20650550 | 20650550 | Human | 1 | name , alternate_id |
| 26885077 | CV823273 | single nucleotide variant | NM_032409.3(PINK1):c.1065A>G (p.Gln355=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001065233]|not provided [RCV002275205] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20645665 | 20645665 | Human | 1 | name , alternate_id |
| 28885713 | CV863341 | single nucleotide variant | NM_032409.3(PINK1):c.218C>T (p.Ser73Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV001098231] | uncertain significance | 1 | 20633766 | 20633766 | Human | 1 | name , alternate_id |
| 28886008 | CV863350 | single nucleotide variant | NM_032409.3(PINK1):c.1095C>T (p.Ser365=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001098321]|not provided [RCV001312068] | likely benign|uncertain significance | 1 | 20645695 | 20645695 | Human | 1 | name , alternate_id |
| 28891245 | CV863351 | single nucleotide variant | NM_032409.3(PINK1):c.1194G>A (p.Leu398=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001100109] | uncertain significance | 1 | 20648575 | 20648575 | Human | 1 | name , alternate_id |
| 28896180 | CV863352 | single nucleotide variant | NM_032409.3(PINK1):c.1728A>G (p.Ser576=) | Autosomal recessive early-onset Parkinson disease 6 [RCV001102104]|not provided [RCV001531618] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20650673 | 20650673 | Human | 1 | name , alternate_id |
| 38485904 | CV930252 | single nucleotide variant | NM_032409.3(PINK1):c.124C>T (p.Arg42Cys) | Autosomal recessive early-onset Parkinson disease 6 [RCV001208666] | uncertain significance | 1 | 20633672 | 20633672 | Human | 1 | name , alternate_id |
| 126755572 | CV1002436 | single nucleotide variant | NM_032409.3(PINK1):c.838G>A (p.Ala280Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV001316973] | uncertain significance | 1 | 20644551 | 20644551 | Human | 1 | name , alternate_id |
| 126769582 | CV1022886 | single nucleotide variant | NM_032409.3(PINK1):c.488G>A (p.Gly163Asp) | Autosomal recessive early-onset Parkinson disease 6 [RCV001343996]|Inborn genetic diseases [RCV004960825] | uncertain significance | 1 | 20637942 | 20637942 | Human | 2 | name , alternate_id |
| 8643610 | CV102614 | single nucleotide variant | NM_032409.3(PINK1):c.644C>T (p.Pro215Leu) | Parkinson disease, late-onset [RCV000082875] | uncertain significance | 1 | 20638098 | 20638098 | Human | 1 | name |
| 8643611 | CV102615 | single nucleotide variant | NM_032409.3(PINK1):c.923T>A (p.Leu308Gln) | Parkinson disease, late-onset [RCV000082876] | uncertain significance | 1 | 20644636 | 20644636 | Human | 1 | name |
| 127317222 | CV1153429 | single nucleotide variant | NM_032409.3(PINK1):c.558G>C (p.Lys186Asn) | Autosomal recessive early-onset Parkinson disease 6 [RCV001520961]|not provided [RCV002264373]|not specified [RCV002246404] | benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20638012 | 20638012 | Human | 1 | name , alternate_id |
| 150332857 | CV1164076 | single nucleotide variant | NM_032409.3(PINK1):c.709A>G (p.Met237Val) | not provided [RCV001528517] | uncertain significance | 1 | 20639925 | 20639925 | Human | | name |
| 150530113 | CV1293348 | single nucleotide variant | NM_032409.3(PINK1):c.949G>A (p.Val317Ile) | Autosomal recessive early-onset Parkinson disease 6 [RCV002503189]|not provided [RCV001756568] | uncertain significance | 1 | 20644662 | 20644662 | Human | 1 | name , alternate_id |
| 150555296 | CV1297738 | single nucleotide variant | NM_032409.3(PINK1):c.905G>A (p.Arg302His) | Autosomal recessive early-onset Parkinson disease 6 [RCV001861116]|See cases [RCV002252699]|not provided [RCV001772645] | uncertain significance | 1 | 20644618 | 20644618 | Human | 1 | name , alternate_id |
| 150552029 | CV1300825 | single nucleotide variant | NM_032409.3(PINK1):c.857C>T (p.Pro286Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV001868426]|not provided [RCV001754685] | uncertain significance | 1 | 20644570 | 20644570 | Human | 1 | name , alternate_id |
| 151751643 | CV1357355 | single nucleotide variant | NM_032409.3(PINK1):c.648G>T (p.Leu216Phe) | Autosomal recessive early-onset Parkinson disease 6 [RCV001894391] | uncertain significance | 1 | 20638102 | 20638102 | Human | 1 | name , alternate_id |
| 151802645 | CV1366128 | deletion | NM_032409.3(PINK1):c.1329del (p.Tyr444fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV001917853]|PINK1-related disorder [RCV004741132] | pathogenic | 1 | 20649071 | 20649071 | Human | 1 | name , trait , alternate_id |
| 151715432 | CV1392705 | single nucleotide variant | NM_032409.3(PINK1):c.968G>A (p.Cys323Tyr) | Autosomal recessive early-onset Parkinson disease 6 [RCV001908877] | uncertain significance | 1 | 20645568 | 20645568 | Human | 1 | name , alternate_id |
| 151800039 | CV1403949 | single nucleotide variant | NM_032409.3(PINK1):c.805G>A (p.Ala269Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV001973824] | uncertain significance | 1 | 20644518 | 20644518 | Human | 1 | name , alternate_id |
| 151831395 | CV1426630 | single nucleotide variant | NM_032409.3(PINK1):c.902C>T (p.Ser301Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV001976687] | uncertain significance | 1 | 20644615 | 20644615 | Human | 1 | name , alternate_id |
| 151772747 | CV1427663 | single nucleotide variant | NM_032409.3(PINK1):c.666G>A (p.Trp222Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV001915142] | pathogenic | 1 | 20638120 | 20638120 | Human | 1 | name , alternate_id |
| 151853090 | CV1459098 | single nucleotide variant | NM_032409.3(PINK1):c.634C>T (p.Pro212Ser) | Autosomal recessive early-onset Parkinson disease 6 [RCV002016848] | uncertain significance | 1 | 20638088 | 20638088 | Human | 1 | name , alternate_id |
| 151807088 | CV1463732 | single nucleotide variant | NM_032409.3(PINK1):c.644C>G (p.Pro215Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV001932839] | uncertain significance | 1 | 20638098 | 20638098 | Human | 1 | name , alternate_id |
| 151867619 | CV1491839 | single nucleotide variant | NM_032409.3(PINK1):c.439C>T (p.Arg147Cys) | Autosomal recessive early-onset Parkinson disease 6 [RCV002018543] | uncertain significance | 1 | 20637893 | 20637893 | Human | 1 | name , alternate_id |
| 151873343 | CV1493190 | single nucleotide variant | NM_032409.3(PINK1):c.311T>G (p.Phe104Cys) | Autosomal recessive early-onset Parkinson disease 6 [RCV001906766] | uncertain significance | 1 | 20633859 | 20633859 | Human | 1 | name , alternate_id |
| 151857723 | CV1503307 | single nucleotide variant | NM_032409.3(PINK1):c.371C>T (p.Ala124Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV001979733] | uncertain significance | 1 | 20633919 | 20633919 | Human | 1 | name , alternate_id |
| 153346065 | CV1691557 | single nucleotide variant | NM_032409.3(PINK1):c.898C>T (p.Pro300Ser) | Autosomal recessive early-onset Parkinson disease 6 [RCV002273040] | uncertain significance | 1 | 20644611 | 20644611 | Human | 1 | name , alternate_id |
| 8595757 | CV17443 | single nucleotide variant | NM_032409.3(PINK1):c.926G>A (p.Gly309Asp) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002505] | pathogenic | 1 | 20644639 | 20644639 | Human | 1 | name , alternate_id |
| 8595758 | CV17444 | single nucleotide variant | NM_032409.3(PINK1):c.813C>A (p.His271Gln) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002506] | pathogenic | 1 | 20644526 | 20644526 | Human | 1 | name , alternate_id |
| 8595760 | CV17446 | single nucleotide variant | NM_032409.3(PINK1):c.736C>T (p.Arg246Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002508] | pathogenic | 1 | 20639952 | 20639952 | Human | 1 | name , alternate_id |
| 8595762 | CV17450 | single nucleotide variant | NM_032409.3(PINK1):c.836G>A (p.Arg279His) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002512]|not provided [RCV002292454] | pathogenic|uncertain significance | 1 | 20644549 | 20644549 | Human | 1 | name , alternate_id |
| 8595763 | CV17452 | single nucleotide variant | NM_032409.3(PINK1):c.938C>T (p.Thr313Met) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002514] | pathogenic|likely pathogenic | 1 | 20644651 | 20644651 | Human | 1 | name , alternate_id |
| 8595764 | CV17453 | single nucleotide variant | NM_032409.3(PINK1):c.650C>A (p.Ala217Asp) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002515] | pathogenic | 1 | 20638104 | 20638104 | Human | 1 | name , alternate_id |
| 10395461 | CV181392 | single nucleotide variant | NM_032409.3(PINK1):c.799C>T (p.Gln267Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV000190317] | pathogenic|not provided | 1 | 20644512 | 20644512 | Human | 1 | name , alternate_id |
| 155803770 | CV1858336 | single nucleotide variant | NM_032409.3(PINK1):c.472A>G (p.Ile158Val) | not provided [RCV002462645] | uncertain significance | 1 | 20637926 | 20637926 | Human | | name |
| 156175634 | CV1874562 | single nucleotide variant | NM_032409.3(PINK1):c.314G>T (p.Gly105Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV003041173] | uncertain significance | 1 | 20633862 | 20633862 | Human | 1 | name , alternate_id |
| 156115241 | CV1881014 | single nucleotide variant | NM_032409.3(PINK1):c.754G>A (p.Glu252Lys) | Autosomal recessive early-onset Parkinson disease 6 [RCV003081211] | uncertain significance | 1 | 20639970 | 20639970 | Human | 1 | name , alternate_id |
| 156044601 | CV1887375 | single nucleotide variant | NM_032409.3(PINK1):c.616G>A (p.Glu206Lys) | Autosomal recessive early-onset Parkinson disease 6 [RCV003078652] | uncertain significance | 1 | 20638070 | 20638070 | Human | 1 | name , alternate_id |
| 156327481 | CV1887386 | single nucleotide variant | NM_032409.3(PINK1):c.398C>T (p.Thr133Ile) | Autosomal recessive early-onset Parkinson disease 6 [RCV003089581]|Inborn genetic diseases [RCV005382550] | uncertain significance | 1 | 20637852 | 20637852 | Human | 2 | name , alternate_id |
| 156029281 | CV1903223 | single nucleotide variant | NM_032409.3(PINK1):c.385C>G (p.Gln129Glu) | Autosomal recessive early-onset Parkinson disease 6 [RCV003100575] | uncertain significance | 1 | 20633933 | 20633933 | Human | 1 | name , alternate_id |
| 156372408 | CV1905607 | single nucleotide variant | NM_032409.3(PINK1):c.599C>T (p.Ala200Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV003092561] | uncertain significance | 1 | 20638053 | 20638053 | Human | 1 | name , alternate_id |
| 156315747 | CV1928361 | single nucleotide variant | NM_032409.3(PINK1):c.377A>C (p.Gln126Pro) | Autosomal recessive early-onset Parkinson disease 6 [RCV002630051] | likely pathogenic | 1 | 20633925 | 20633925 | Human | 1 | name , alternate_id |
| 156005615 | CV1984370 | single nucleotide variant | NM_032409.3(PINK1):c.512A>G (p.Tyr171Cys) | Autosomal recessive early-onset Parkinson disease 6 [RCV002618652] | uncertain significance | 1 | 20637966 | 20637966 | Human | 1 | name , alternate_id |
| 156119170 | CV2035777 | single nucleotide variant | NM_032409.3(PINK1):c.853G>A (p.Val285Met) | Autosomal recessive early-onset Parkinson disease 6 [RCV002785720] | uncertain significance | 1 | 20644566 | 20644566 | Human | 1 | name , alternate_id |
| 155988456 | CV2094330 | single nucleotide variant | NM_032409.3(PINK1):c.556A>G (p.Lys186Glu) | Autosomal recessive early-onset Parkinson disease 6 [RCV002885977]|Inborn genetic diseases [RCV002882275] | likely benign|uncertain significance | 1 | 20638010 | 20638010 | Human | 2 | name , alternate_id |
| 156079138 | CV2098537 | single nucleotide variant | NM_032409.3(PINK1):c.328C>A (p.Leu110Ile) | Autosomal recessive early-onset Parkinson disease 6 [RCV002912640] | uncertain significance | 1 | 20633876 | 20633876 | Human | 1 | name , alternate_id |
| 156207971 | CV2103859 | single nucleotide variant | NM_032409.3(PINK1):c.364G>C (p.Val122Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV002931940] | uncertain significance | 1 | 20633912 | 20633912 | Human | 1 | name , alternate_id |
| 156124427 | CV2124824 | single nucleotide variant | NM_032409.3(PINK1):c.413C>G (p.Pro138Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV002953628] | uncertain significance | 1 | 20637867 | 20637867 | Human | 1 | name , alternate_id |
| 156005644 | CV2127375 | single nucleotide variant | NM_032409.3(PINK1):c.737G>A (p.Arg246Gln) | Autosomal recessive early-onset Parkinson disease 6 [RCV002948006] | uncertain significance | 1 | 20639953 | 20639953 | Human | 1 | name , alternate_id |
| 156196989 | CV2159033 | single nucleotide variant | NM_032409.3(PINK1):c.425C>T (p.Pro142Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV003041839]|not provided [RCV004721099] | uncertain significance | 1 | 20637879 | 20637879 | Human | 1 | name , alternate_id |
| 156244005 | CV2187269 | single nucleotide variant | NM_032409.3(PINK1):c.913C>G (p.Pro305Ala) | Autosomal recessive early-onset Parkinson disease 6 [RCV003059762] | uncertain significance | 1 | 20644626 | 20644626 | Human | 1 | name , alternate_id |
| 155990821 | CV2256377 | single nucleotide variant | NM_032409.3(PINK1):c.662T>C (p.Met221Thr) | Inborn genetic diseases [RCV002793658] | uncertain significance | 1 | 20638116 | 20638116 | Human | 1 | name |
| 156025916 | CV2274027 | single nucleotide variant | NM_032409.3(PINK1):c.998C>T (p.Thr333Ile) | Inborn genetic diseases [RCV002845006] | uncertain significance | 1 | 20645598 | 20645598 | Human | 1 | name |
| 156180555 | CV2327745 | single nucleotide variant | NM_032409.3(PINK1):c.786G>C (p.Lys262Asn) | Inborn genetic diseases [RCV002930384] | uncertain significance | 1 | 20644499 | 20644499 | Human | 1 | name |
| 329848089 | CV2667708 | single nucleotide variant | NM_032409.3(PINK1):c.823A>G (p.Ile275Val) | not provided [RCV003229275] | uncertain significance | 1 | 20644536 | 20644536 | Human | | name |
| 401720678 | CV2702045 | single nucleotide variant | NM_032409.3(PINK1):c.448G>T (p.Gly150Cys) | Inborn genetic diseases [RCV003267313] | uncertain significance | 1 | 20637902 | 20637902 | Human | 1 | name |
| 11637603 | CV271018 | single nucleotide variant | NM_032409.3(PINK1):c.434C>T (p.Thr145Met) | Autosomal recessive early-onset Parkinson disease 6 [RCV001037688]|not provided [RCV000725899]|not specified [RCV000287239] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 20637888 | 20637888 | Human | 1 | name , alternate_id |
| 11581333 | CV278532 | single nucleotide variant | NM_032409.3(PINK1):c.826C>T (p.Arg276Trp) | Autosomal recessive early-onset Parkinson disease 6 [RCV000365674] | uncertain significance | 1 | 20644539 | 20644539 | Human | 1 | name , alternate_id |
| 401919876 | CV2794971 | single nucleotide variant | NM_032409.3(PINK1):c.385C>T (p.Gln129Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV003388717] | likely pathogenic | 1 | 20633933 | 20633933 | Human | 1 | name , alternate_id |
| 11581434 | CV279796 | single nucleotide variant | NM_032409.3(PINK1):c.344A>T (p.Gln115Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV000576611]|not provided [RCV001579479]|not specified [RCV001642905] | benign|likely benign | 1 | 20633892 | 20633892 | Human | 1 | name , alternate_id |
| 11580171 | CV279797 | single nucleotide variant | NM_032409.3(PINK1):c.695C>T (p.Ala232Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV000325036]|Inborn genetic diseases [RCV002519476] | uncertain significance | 1 | 20639911 | 20639911 | Human | 2 | name , alternate_id |
| 401918895 | CV2831284 | single nucleotide variant | NM_032409.3(PINK1):c.943T>C (p.Phe315Leu) | Neuroblastoma [RCV003444049] | uncertain significance | 1 | 20644656 | 20644656 | Human | 2 | name |
| 405114092 | CV2887080 | single nucleotide variant | NM_032409.3(PINK1):c.413C>A (p.Pro138Gln) | Autosomal recessive early-onset Parkinson disease 6 [RCV003499823] | uncertain significance | 1 | 20637867 | 20637867 | Human | 1 | name , alternate_id |
| 404994988 | CV3007322 | single nucleotide variant | NM_032409.3(PINK1):c.668A>T (p.Asn223Ile) | Autosomal recessive early-onset Parkinson disease 6 [RCV003604976] | uncertain significance | 1 | 20638122 | 20638122 | Human | 1 | name , alternate_id |
| 405190149 | CV3149544 | single nucleotide variant | NM_032409.3(PINK1):c.788G>A (p.Arg263Lys) | Autosomal recessive early-onset Parkinson disease 6 [RCV003843270] | uncertain significance | 1 | 20644501 | 20644501 | Human | 1 | name , alternate_id |
| 405791307 | CV3372757 | single nucleotide variant | NM_032409.3(PINK1):c.345G>C (p.Gln115His) | Inborn genetic diseases [RCV004506009] | uncertain significance | 1 | 20633893 | 20633893 | Human | 1 | name |
| 405791311 | CV3372758 | single nucleotide variant | NM_032409.3(PINK1):c.806C>T (p.Ala269Val) | Inborn genetic diseases [RCV004506010] | uncertain significance | 1 | 20644519 | 20644519 | Human | 1 | name |
| 407530808 | CV3463660 | single nucleotide variant | NM_032409.3(PINK1):c.556A>C (p.Lys186Gln) | Inborn genetic diseases [RCV004657248] | uncertain significance | 1 | 20638010 | 20638010 | Human | 1 | name |
| 408380760 | CV3501689 | single nucleotide variant | NM_032409.3(PINK1):c.904C>T (p.Arg302Cys) | not provided [RCV004729217] | uncertain significance | 1 | 20644617 | 20644617 | Human | | name |
| 408392062 | CV3526457 | single nucleotide variant | NM_032409.3(PINK1):c.977G>A (p.Arg326His) | Inborn genetic diseases [RCV005392885]|not provided [RCV004775706] | uncertain significance | 1 | 20645577 | 20645577 | Human | 1 | name |
| 596929912 | CV3538647 | single nucleotide variant | NM_032409.3(PINK1):c.839C>A (p.Ala280Asp) | not provided [RCV004792116] | uncertain significance | 1 | 20644552 | 20644552 | Human | | name |
| 597724047 | CV3576033 | single nucleotide variant | NM_032409.3(PINK1):c.638C>A (p.Ala213Asp) | Inborn genetic diseases [RCV004961863] | uncertain significance | 1 | 20638092 | 20638092 | Human | 1 | name |
| 597724068 | CV3576035 | single nucleotide variant | NM_032409.3(PINK1):c.535C>T (p.Pro179Ser) | Inborn genetic diseases [RCV004961865] | uncertain significance | 1 | 20637989 | 20637989 | Human | 1 | name |
| 12743093 | CV361485 | single nucleotide variant | NM_032409.3(PINK1):c.770C>T (p.Thr257Ile) | Autosomal recessive early-onset Parkinson disease 6 [RCV001101992]|not provided [RCV000416004] | uncertain significance | 1 | 20639986 | 20639986 | Human | 1 | name , alternate_id |
| 12743269 | CV361486 | single nucleotide variant | NM_032409.3(PINK1):c.802C>G (p.Leu268Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV001101993]|not provided [RCV000416244] | pathogenic|uncertain significance | 1 | 20644515 | 20644515 | Human | 1 | name , alternate_id |
| 597967403 | CV3794497 | duplication | NM_032409.3(PINK1):c.1396dup (p.Tyr466fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV005140673] | pathogenic | 1 | 20649138 | 20649139 | Human | 1 | name , alternate_id |
| 597971911 | CV3833237 | single nucleotide variant | NM_032409.3(PINK1):c.971C>T (p.Thr324Ile) | Autosomal recessive early-onset Parkinson disease 6 [RCV005167134] | uncertain significance | 1 | 20645571 | 20645571 | Human | 1 | name , alternate_id |
| 12913711 | CV421201 | single nucleotide variant | NM_032409.3(PINK1):c.502G>C (p.Ala168Pro) | Autosomal recessive early-onset Parkinson disease 6 [RCV002527092]|PINK1-Related Parkinsonism [RCV000509548]|not provided [RCV000494163] | pathogenic|likely pathogenic|not provided | 1 | 20637956 | 20637956 | Human | 1 | name , trait , alternate_id |
| 13462417 | CV439180 | single nucleotide variant | NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV000641727]|not provided [RCV000514116] | uncertain significance | 1 | 20638041 | 20638041 | Human | 1 | name , alternate_id |
| 13479138 | CV440433 | single nucleotide variant | NM_032409.3(PINK1):c.851C>A (p.Ser284Tyr) | Autosomal recessive early-onset Parkinson disease 6 [RCV001857917]|not specified [RCV000516895] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 20644564 | 20644564 | Human | 1 | name , alternate_id |
| 13482834 | CV440434 | single nucleotide variant | NM_032409.3(PINK1):c.952A>T (p.Met318Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV000823919]|PINK1-related disorder [RCV004740295]|not provided [RCV000726608]|not specified [RCV000517984] | uncertain significance | 1 | 20644665 | 20644665 | Human | 1 | name , trait , alternate_id |
| 13466759 | CV447474 | single nucleotide variant | NM_032409.3(PINK1):c.935G>A (p.Arg312Gln) | Autosomal recessive early-onset Parkinson disease 6 [RCV000543639]|not provided [RCV003482283] | uncertain significance | 1 | 20644648 | 20644648 | Human | 1 | name , alternate_id |
| 13519217 | CV485989 | single nucleotide variant | NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV000765035]|not provided [RCV000585478] | uncertain significance | 1 | 20638019 | 20638019 | Human | 1 | name , alternate_id |
| 14394310 | CV609367 | single nucleotide variant | NM_032409.3(PINK1):c.865C>A (p.Pro289Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV002477740]|not provided [RCV000757618] | pathogenic|uncertain significance | 1 | 20644578 | 20644578 | Human | 1 | name , alternate_id |
| 14692954 | CV619986 | single nucleotide variant | NM_032409.3(PINK1):c.665G>A (p.Trp222Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV000778216] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20638119 | 20638119 | Human | 1 | name , alternate_id |
| 14692955 | CV619987 | single nucleotide variant | NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV000778217]|not provided [RCV004696987] | pathogenic | 1 | 20639990 | 20639990 | Human | 1 | name , alternate_id |
| 14733663 | CV627315 | single nucleotide variant | NM_032409.3(PINK1):c.626C>T (p.Pro209Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV000802378]|PINK1-related disorder [RCV004740455]|not provided [RCV004702430] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 20638080 | 20638080 | Human | 1 | name , trait , alternate_id |
| 14706735 | CV627316 | single nucleotide variant | NM_032409.3(PINK1):c.962A>G (p.Tyr321Cys) | Autosomal recessive early-onset Parkinson disease 6 [RCV000808530] | uncertain significance | 1 | 20645562 | 20645562 | Human | 1 | name , alternate_id |
| 15172697 | CV707026 | single nucleotide variant | NM_032409.3(PINK1):c.827G>A (p.Arg276Gln) | Autosomal recessive early-onset Parkinson disease 6 [RCV000969584] | benign|conflicting interpretations of pathogenicity | 1 | 20644540 | 20644540 | Human | 1 | name , alternate_id |
| 21071298 | CV794551 | single nucleotide variant | NM_032409.3(PINK1):c.745T>G (p.Leu249Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV001057867]|not provided [RCV000993933] | uncertain significance | 1 | 20639961 | 20639961 | Human | 1 | name , alternate_id |
| 26899827 | CV823272 | single nucleotide variant | NM_032409.3(PINK1):c.449G>A (p.Gly150Asp) | Autosomal recessive early-onset Parkinson disease 6 [RCV001049353] | uncertain significance | 1 | 20637903 | 20637903 | Human | 1 | name , alternate_id |
| 28895877 | CV863344 | single nucleotide variant | NM_032409.3(PINK1):c.620G>A (p.Arg207Gln) | Autosomal recessive early-onset Parkinson disease 6 [RCV001101991] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 20638074 | 20638074 | Human | 1 | name , alternate_id |
| 28880560 | CV863346 | single nucleotide variant | NM_032409.3(PINK1):c.835C>T (p.Arg279Cys) | Autosomal recessive early-onset Parkinson disease 6 [RCV001096587]|not provided [RCV005411661] | uncertain significance | 1 | 20644548 | 20644548 | Human | 1 | name , alternate_id |
| 28880563 | CV863347 | single nucleotide variant | NM_032409.3(PINK1):c.887C>T (p.Pro296Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV001096588] | uncertain significance | 1 | 20644600 | 20644600 | Human | 1 | name , alternate_id |
| 38462920 | CV918593 | single nucleotide variant | NM_032409.3(PINK1):c.454C>T (p.Arg152Trp) | Autosomal recessive early-onset Parkinson disease 6 [RCV001198772]|not provided [RCV004570412] | uncertain significance | 1 | 20637908 | 20637908 | Human | 1 | name , alternate_id |
| 127291083 | CV1109921 | single nucleotide variant | NM_032409.3(PINK1):c.1023G>A (p.Met341Ile) | Autosomal recessive early-onset Parkinson disease 6 [RCV001475962]|not provided [RCV003229057] | likely benign|uncertain significance | 1 | 20645623 | 20645623 | Human | 1 | name , alternate_id |
| 150552175 | CV1302255 | single nucleotide variant | NM_032409.3(PINK1):c.1024A>C (p.Met342Leu) | not provided [RCV001767519] | uncertain significance | 1 | 20645624 | 20645624 | Human | | name |
| 151711662 | CV1340789 | single nucleotide variant | NM_032409.3(PINK1):c.1219C>T (p.Arg407Trp) | Autosomal recessive early-onset Parkinson disease 6 [RCV002002099] | uncertain significance | 1 | 20648600 | 20648600 | Human | 1 | name , alternate_id |
| 151813028 | CV1343707 | single nucleotide variant | NM_032409.3(PINK1):c.1252G>A (p.Val418Met) | Autosomal recessive early-onset Parkinson disease 6 [RCV001918802] | uncertain significance | 1 | 20648995 | 20648995 | Human | 1 | name , alternate_id |
| 151872557 | CV1366895 | deletion | NM_032409.3(PINK1):c.85_106del (p.Tyr29fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV001960635] | pathogenic | 1 | 20633623 | 20633644 | Human | 1 | name , alternate_id |
| 151709707 | CV1375987 | single nucleotide variant | NM_032409.3(PINK1):c.1264C>T (p.Arg422Cys) | Autosomal recessive early-onset Parkinson disease 6 [RCV001964041] | uncertain significance | 1 | 20649007 | 20649007 | Human | 1 | name , alternate_id |
| 151854431 | CV1390878 | single nucleotide variant | NM_032409.3(PINK1):c.1024A>G (p.Met342Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV001958415] | uncertain significance | 1 | 20645624 | 20645624 | Human | 1 | name , alternate_id |
| 151867226 | CV1394200 | single nucleotide variant | NM_032409.3(PINK1):c.1579A>G (p.Met527Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV002035204] | uncertain significance | 1 | 20650524 | 20650524 | Human | 1 | name , alternate_id |
| 151859116 | CV1403644 | single nucleotide variant | NM_032409.3(PINK1):c.1627A>G (p.Arg543Gly) | Autosomal recessive early-onset Parkinson disease 6 [RCV001996902] | uncertain significance | 1 | 20650572 | 20650572 | Human | 1 | name , alternate_id |
| 151865117 | CV1405963 | single nucleotide variant | NM_032409.3(PINK1):c.1606G>T (p.Ala536Ser) | Autosomal recessive early-onset Parkinson disease 6 [RCV001959731] | uncertain significance | 1 | 20650551 | 20650551 | Human | 1 | name , alternate_id |
| 151884959 | CV1425181 | single nucleotide variant | NM_032409.3(PINK1):c.1121C>G (p.Pro374Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV001887256]|Inborn genetic diseases [RCV005382244] | uncertain significance | 1 | 20645721 | 20645721 | Human | 2 | name , alternate_id |
| 151882411 | CV1443204 | single nucleotide variant | NM_032409.3(PINK1):c.1609G>A (p.Ala537Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV002037134] | uncertain significance | 1 | 20650554 | 20650554 | Human | 1 | name , alternate_id |
| 151802208 | CV1449759 | single nucleotide variant | NM_032409.3(PINK1):c.1544A>G (p.His515Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV002048084]|Inborn genetic diseases [RCV004656836]|not provided [RCV004793698] | uncertain significance | 1 | 20650489 | 20650489 | Human | 2 | name , alternate_id |
| 151881995 | CV1484417 | single nucleotide variant | NM_032409.3(PINK1):c.1475G>A (p.Arg492Gln) | Autosomal recessive early-onset Parkinson disease 6 [RCV001941193]|Inborn genetic diseases [RCV004955901] | uncertain significance | 1 | 20649218 | 20649218 | Human | 2 | name , alternate_id |
| 151782782 | CV1486922 | single nucleotide variant | NM_032409.3(PINK1):c.1391G>A (p.Arg464His) | Autosomal recessive early-onset Parkinson disease 6 [RCV001916034] | uncertain significance | 1 | 20649134 | 20649134 | Human | 1 | name , alternate_id |
| 151779029 | CV1496729 | single nucleotide variant | NM_032409.3(PINK1):c.1442A>T (p.Asp481Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV001930254] | uncertain significance | 1 | 20649185 | 20649185 | Human | 1 | name , alternate_id |
| 151789667 | CV1515267 | single nucleotide variant | NM_032409.3(PINK1):c.1009C>T (p.Arg337Cys) | Autosomal recessive early-onset Parkinson disease 6 [RCV002027098] | uncertain significance | 1 | 20645609 | 20645609 | Human | 1 | name , alternate_id |
| 8595759 | CV17445 | single nucleotide variant | NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002507] | pathogenic | 1 | 20649054 | 20649054 | Human | 1 | name , alternate_id |
| 8595761 | CV17447 | single nucleotide variant | NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002509]|not provided [RCV002223750] | pathogenic | 1 | 20645640 | 20645640 | Human | 1 | name , alternate_id |
| 8595765 | CV17454 | single nucleotide variant | NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002516]|PINK1-related disorder [RCV004739278]|not provided [RCV000627238] | pathogenic | 1 | 20649109 | 20649109 | Human | 1 | name , trait , alternate_id |
| 8595766 | CV17455 | single nucleotide variant | NM_032409.3(PINK1):c.1291T>C (p.Tyr431His) | Parkinson disease 6 [RCV000002517] | risk factor | 1 | 20649034 | 20649034 | Human | 1 | name |
| 8595767 | CV17456 | single nucleotide variant | NM_032409.3(PINK1):c.1196C>T (p.Pro399Leu) | Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 [RCV000002518] | pathogenic|uncertain significance | 1 | 20648577 | 20648577 | Human | 1 | name , trait |
| 155748717 | CV1772244 | single nucleotide variant | NM_032409.3(PINK1):c.1499C>G (p.Ala500Gly) | Autosomal recessive early-onset Parkinson disease 6 [RCV002303841] | uncertain significance | 1 | 20650444 | 20650444 | Human | 1 | name , alternate_id |
| 155801820 | CV1864131 | single nucleotide variant | NM_032409.3(PINK1):c.1183G>A (p.Gly395Ser) | not provided [RCV002475083] | uncertain significance | 1 | 20648564 | 20648564 | Human | | name |
| 156411170 | CV1892970 | single nucleotide variant | NM_032409.3(PINK1):c.1352A>T (p.Asn451Ile) | Autosomal recessive early-onset Parkinson disease 6 [RCV003072363] | uncertain significance | 1 | 20649095 | 20649095 | Human | 1 | name , alternate_id |
| 156167045 | CV1907793 | single nucleotide variant | NM_032409.3(PINK1):c.1510G>A (p.Ala504Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV003083106] | uncertain significance | 1 | 20650455 | 20650455 | Human | 1 | name , alternate_id |
| 156188493 | CV1933969 | single nucleotide variant | NM_032409.3(PINK1):c.1130G>T (p.Cys377Phe) | Autosomal recessive early-onset Parkinson disease 6 [RCV002625282] | uncertain significance | 1 | 20648511 | 20648511 | Human | 1 | name , alternate_id |
| 156016732 | CV2010370 | single nucleotide variant | NM_032409.3(PINK1):c.1099A>C (p.Asn367His) | Autosomal recessive early-onset Parkinson disease 6 [RCV002735179] | uncertain significance | 1 | 20645699 | 20645699 | Human | 1 | name , alternate_id |
| 156263195 | CV2030247 | single nucleotide variant | NM_032409.3(PINK1):c.1367A>G (p.Gln456Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV002746381] | uncertain significance | 1 | 20649110 | 20649110 | Human | 1 | name , alternate_id |
| 156277238 | CV2046476 | single nucleotide variant | NM_032409.3(PINK1):c.1176G>C (p.Glu392Asp) | Autosomal recessive early-onset Parkinson disease 6 [RCV002770257] | uncertain significance | 1 | 20648557 | 20648557 | Human | 1 | name , alternate_id |
| 156304241 | CV2079687 | single nucleotide variant | NM_032409.3(PINK1):c.1600C>T (p.Gln534Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV002857327] | pathogenic | 1 | 20650545 | 20650545 | Human | 1 | name , alternate_id |
| 155991495 | CV2095501 | single nucleotide variant | NM_032409.3(PINK1):c.1501C>T (p.Arg501Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV002908184]|not provided [RCV003149043] | pathogenic|likely pathogenic | 1 | 20650446 | 20650446 | Human | 1 | name , alternate_id |
| 156187679 | CV2098855 | single nucleotide variant | NM_032409.3(PINK1):c.1265G>A (p.Arg422His) | Autosomal recessive early-onset Parkinson disease 6 [RCV002917345]|not provided [RCV003481346] | uncertain significance | 1 | 20649008 | 20649008 | Human | 1 | name , alternate_id |
| 156257666 | CV2102588 | single nucleotide variant | NM_032409.3(PINK1):c.1273C>T (p.Pro425Ser) | Autosomal recessive early-onset Parkinson disease 6 [RCV002895468] | uncertain significance | 1 | 20649016 | 20649016 | Human | 1 | name , alternate_id |
| 156207142 | CV2110331 | single nucleotide variant | NM_032409.3(PINK1):c.1271G>A (p.Gly424Asp) | Autosomal recessive early-onset Parkinson disease 6 [RCV002957601]|Inborn genetic diseases [RCV004958860] | uncertain significance | 1 | 20649014 | 20649014 | Human | 2 | name , alternate_id |
| 156343300 | CV2232677 | single nucleotide variant | NM_032409.3(PINK1):c.1099A>T (p.Asn367Tyr) | Inborn genetic diseases [RCV002719393] | uncertain significance | 1 | 20645699 | 20645699 | Human | 1 | name |
| 11643942 | CV270627 | single nucleotide variant | NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) | Autosomal recessive early-onset Parkinson disease 6 [RCV001089386]|PINK1-related disorder [RCV003920106]|not provided [RCV000712566]|not specified [RCV000403403] | benign|likely benign | 1 | 20649169 | 20649169 | Human | 1 | name , trait , alternate_id |
| 401724075 | CV2735674 | single nucleotide variant | NM_032409.3(PINK1):c.1220G>T (p.Arg407Leu) | not provided [RCV003312117] | uncertain significance | 1 | 20648601 | 20648601 | Human | | name |
| 11580098 | CV278643 | single nucleotide variant | NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV001000246]|PINK1-related disorder [RCV004739666]|not provided [RCV001707623]|not specified [RCV001579890] | benign|likely benign | 1 | 20645618 | 20645618 | Human | 1 | name , trait , alternate_id |
| 401919880 | CV2794972 | single nucleotide variant | NM_032409.3(PINK1):c.1099A>G (p.Asn367Asp) | Autosomal recessive early-onset Parkinson disease 6 [RCV003388718] | uncertain significance | 1 | 20645699 | 20645699 | Human | 1 | name , alternate_id |
| 11666622 | CV279809 | single nucleotide variant | NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV001000242]|Congenital disorder of glycosylation [RCV000362537]|Parkinson Disease, Recessive [RCV000408170]|not provided [RCV001610804]|not specified [RCV000595549] | benign|likely benign | 1 | 20650507 | 20650507 | Human | 3 | name , alternate_id |
| 11650453 | CV279953 | single nucleotide variant | NM_032409.3(PINK1):c.1578G>C (p.Lys526Asn) | Autosomal recessive early-onset Parkinson disease 6 [RCV000292882] | uncertain significance | 1 | 20650523 | 20650523 | Human | 1 | name , alternate_id |
| 405699595 | CV3227211 | single nucleotide variant | NM_032409.3(PINK1):c.1288G>C (p.Asp430His) | Autosomal recessive early-onset Parkinson disease 6 [RCV003993562] | uncertain significance | 1 | 20649031 | 20649031 | Human | 1 | name , alternate_id |
| 405791286 | CV3372751 | single nucleotide variant | NM_032409.3(PINK1):c.1006C>G (p.Pro336Ala) | Inborn genetic diseases [RCV004506003] | uncertain significance | 1 | 20645606 | 20645606 | Human | 1 | name |
| 405791289 | CV3372752 | single nucleotide variant | NM_032409.3(PINK1):c.1177A>C (p.Ser393Arg) | Inborn genetic diseases [RCV004506004] | likely benign | 1 | 20648558 | 20648558 | Human | 1 | name |
| 405791293 | CV3372753 | single nucleotide variant | NM_032409.3(PINK1):c.1187T>G (p.Leu396Arg) | Inborn genetic diseases [RCV004506005] | uncertain significance | 1 | 20648568 | 20648568 | Human | 1 | name |
| 405791297 | CV3372754 | single nucleotide variant | NM_032409.3(PINK1):c.1472A>C (p.Gln491Pro) | Inborn genetic diseases [RCV004506006] | uncertain significance | 1 | 20649215 | 20649215 | Human | 1 | name |
| 405791300 | CV3372755 | single nucleotide variant | NM_032409.3(PINK1):c.1576A>G (p.Lys526Glu) | Inborn genetic diseases [RCV004506007] | uncertain significance | 1 | 20650521 | 20650521 | Human | 1 | name |
| 408392460 | CV3528134 | single nucleotide variant | NM_032409.3(PINK1):c.1252G>C (p.Val418Leu) | not provided [RCV004775902] | uncertain significance | 1 | 20648995 | 20648995 | Human | | name |
| 597724036 | CV3576032 | single nucleotide variant | NM_032409.3(PINK1):c.1461G>C (p.Arg487Ser) | Inborn genetic diseases [RCV004961862] | uncertain significance | 1 | 20649204 | 20649204 | Human | 1 | name |
| 597724057 | CV3576034 | single nucleotide variant | NM_032409.3(PINK1):c.1333G>A (p.Glu445Lys) | Inborn genetic diseases [RCV004961864] | uncertain significance | 1 | 20649076 | 20649076 | Human | 1 | name |
| 597756707 | CV3711163 | single nucleotide variant | NM_032409.3(PINK1):c.1189C>T (p.Gln397Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV005017453] | likely pathogenic | 1 | 20648570 | 20648570 | Human | 1 | name , alternate_id |
| 597974342 | CV3802119 | single nucleotide variant | NM_032409.3(PINK1):c.1026G>A (p.Met342Ile) | Autosomal recessive early-onset Parkinson disease 6 [RCV005143895] | uncertain significance | 1 | 20645626 | 20645626 | Human | 1 | name , alternate_id |
| 597955470 | CV3809475 | single nucleotide variant | NM_032409.3(PINK1):c.1048G>C (p.Val350Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV005162200]|not provided [RCV005412725] | uncertain significance | 1 | 20645648 | 20645648 | Human | 1 | name , alternate_id |
| 597874138 | CV3849987 | single nucleotide variant | NM_032409.3(PINK1):c.1100A>G (p.Asn367Ser) | Autosomal recessive early-onset Parkinson disease 6 [RCV005197976] | uncertain significance | 1 | 20645700 | 20645700 | Human | 1 | name , alternate_id |
| 597924542 | CV3863113 | single nucleotide variant | NM_032409.3(PINK1):c.1511C>T (p.Ala504Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV005205601] | uncertain significance | 1 | 20650456 | 20650456 | Human | 1 | name , alternate_id |
| 597831930 | CV3863997 | single nucleotide variant | NM_032409.3(PINK1):c.1212C>A (p.Tyr404Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV005208413] | likely pathogenic | 1 | 20648593 | 20648593 | Human | 1 | name , alternate_id |
| 598272923 | CV4002807 | single nucleotide variant | NM_032409.3(PINK1):c.1435C>T (p.Pro479Ser) | Inborn genetic diseases [RCV005389514] | uncertain significance | 1 | 20649178 | 20649178 | Human | 1 | name |
| 13212175 | CV425330 | single nucleotide variant | NM_032409.3(PINK1):c.1010G>A (p.Arg337His) | Autosomal recessive early-onset Parkinson disease 6 [RCV001857024]|not provided [RCV000498448] | uncertain significance | 1 | 20645610 | 20645610 | Human | 1 | name , alternate_id |
| 13211662 | CV425331 | single nucleotide variant | NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV000814157]|PINK1-related disorder [RCV004740269]|not provided [RCV000497743] | pathogenic | 1 | 20649217 | 20649217 | Human | 1 | name , trait , alternate_id |
| 13515914 | CV491572 | single nucleotide variant | NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV000641728]|PINK1-related disorder [RCV004740355]|not provided [RCV000594876]|not specified [RCV005240302] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 20645615 | 20645615 | Human | 1 | name , trait , alternate_id |
| 13705947 | CV537083 | single nucleotide variant | NM_032409.3(PINK1):c.1153T>C (p.Phe385Leu) | Autosomal recessive early-onset Parkinson disease 6 [RCV001861701]|not provided [RCV000658504] | likely pathogenic|uncertain significance | 1 | 20648534 | 20648534 | Human | 1 | name , alternate_id |
| 14393800 | CV609368 | single nucleotide variant | NM_032409.3(PINK1):c.1147G>A (p.Ala383Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV001100108]|not provided [RCV000756487]|not specified [RCV005240531] | likely benign|uncertain significance | 1 | 20648528 | 20648528 | Human | 1 | name , alternate_id |
| 14692957 | CV619988 | single nucleotide variant | NM_032409.3(PINK1):c.1212C>G (p.Tyr404Ter) | Autosomal recessive early-onset Parkinson disease 6 [RCV000778218] | uncertain significance | 1 | 20648593 | 20648593 | Human | | name , alternate_id |
| 14737824 | CV627317 | single nucleotide variant | NM_032409.3(PINK1):c.1096G>A (p.Asp366Asn) | Autosomal recessive early-onset Parkinson disease 6 [RCV000820662]|not provided [RCV003480870] | uncertain significance | 1 | 20645696 | 20645696 | Human | 1 | name , alternate_id |
| 15167982 | CV690474 | single nucleotide variant | NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser) | Autosomal recessive early-onset Parkinson disease 6 [RCV000873018]|PINK1-related disorder [RCV003955698]|not provided [RCV001093405]|not specified [RCV004768729] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20648612 | 20648612 | Human | 1 | name , trait , alternate_id |
| 15168349 | CV690475 | single nucleotide variant | NM_032409.3(PINK1):c.1481C>T (p.Ala494Val) | Autosomal recessive early-onset Parkinson disease 6 [RCV001100110]|not provided [RCV003456451] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 1 | 20649224 | 20649224 | Human | 1 | name , alternate_id |
| 15168032 | CV690476 | single nucleotide variant | NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln) | Autosomal recessive early-onset Parkinson disease 6 [RCV000873565]|not provided [RCV001555281] | benign|likely benign | 1 | 20650447 | 20650447 | Human | 1 | name , alternate_id |
| 21067169 | CV792840 | single nucleotide variant | NM_032409.3(PINK1):c.1108G>A (p.Val370Met) | not provided [RCV000992539] | uncertain significance | 1 | 20645708 | 20645708 | Human | | name |
| 28885999 | CV863348 | single nucleotide variant | NM_032409.3(PINK1):c.1003A>G (p.Ser335Gly) | Autosomal recessive early-onset Parkinson disease 6 [RCV001098319] | uncertain significance | 1 | 20645603 | 20645603 | Human | 1 | name , alternate_id |
| 28886003 | CV863349 | single nucleotide variant | NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV001098320]|not provided [RCV004590094] | conflicting interpretations of pathogenicity|uncertain significance | 1 | 20645675 | 20645675 | Human | 1 | name , alternate_id |
| 28896182 | CV863353 | single nucleotide variant | NM_032409.3(PINK1):c.1729T>C (p.Trp577Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV001102105] | uncertain significance | 1 | 20650674 | 20650674 | Human | 1 | name , alternate_id |
| 38496854 | CV952221 | single nucleotide variant | NM_032409.3(PINK1):c.1220G>A (p.Arg407Gln) | Autosomal recessive early-onset Parkinson disease 6 [RCV001242824] | uncertain significance | 1 | 20648601 | 20648601 | Human | 1 | name , alternate_id |
| 40889957 | CV974957 | single nucleotide variant | NM_032409.3(PINK1):c.1162T>C (p.Cys388Arg) | not provided [RCV001268493] | likely pathogenic | 1 | 20648543 | 20648543 | Human | | name |
| 41406291 | CV982371 | single nucleotide variant | NM_032409.3(PINK1):c.1382T>G (p.Leu461Arg) | Autosomal recessive early-onset Parkinson disease 6 [RCV002541784]|not provided [RCV001288267] | uncertain significance | 1 | 20649125 | 20649125 | Human | 1 | name , alternate_id |
| 126762273 | CV987171 | single nucleotide variant | NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn) | Autosomal recessive early-onset Parkinson disease 6 [RCV001309834]|not provided [RCV004697105] | uncertain significance | 1 | 20650518 | 20650518 | Human | 1 | name , alternate_id |
| 126751119 | CV987172 | single nucleotide variant | NM_032409.3(PINK1):c.1580T>C (p.Met527Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV001306974] | likely benign|uncertain significance | 1 | 20650525 | 20650525 | Human | 1 | name , alternate_id |
| 405866763 | CV3401174 | deletion | NM_032409.3(PINK1):c.268_283del (p.Trp90fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV004577291] | likely pathogenic | 1 | 20633809 | 20633824 | Human | 1 | name , alternate_id |
| 126743390 | CV1019273 | microsatellite | NM_032409.3(PINK1):c.559_560del (p.Ser187fs) | Parkinson disease 6, autosomal recessive early-onset [RCV001336760] | pathogenic | 1 | 20638011 | 20638012 | Human | | name , alternate_id |
| 8556798 | CV17449 | microsatellite | NM_032409.3(PINK1):c.1597CAA[3] (p.Gln534dup) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002511] | pathogenic | 1 | 20650541 | 20650542 | Human | | name , alternate_id |
| 596948164 | CV3549244 | deletion | NM_032409.3(PINK1):c.390_392del (p.Ile131del) | not provided [RCV004812064] | uncertain significance | 1 | 20637844 | 20637846 | Human | | name |
| 8556797 | CV17448 | duplication | NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV000002510] | pathogenic | 1 | 20650512 | 20650513 | Human | 1 | name , alternate_id |
| 156283490 | CV2175843 | duplication | NM_032409.3(PINK1):c.1527_1530dup (p.Leu511fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV003027398] | likely pathogenic | 1 | 20650471 | 20650472 | Human | 1 | name , alternate_id |
| 155936384 | CV2114197 | indel | NM_032409.3(PINK1):c.203_204delinsCT (p.Arg68Pro) | Autosomal recessive early-onset Parkinson disease 6 [RCV002904166] | uncertain significance | 1 | 20633751 | 20633752 | Human | | name , alternate_id |
| 155986441 | CV1979614 | indel | NM_032409.3(PINK1):c.864_865delinsAA (p.Pro289Thr) | Autosomal recessive early-onset Parkinson disease 6 [RCV002617827] | uncertain significance | 1 | 20644577 | 20644578 | Human | | name , alternate_id |
| 596946070 | CV3550362 | indel | NM_032409.3(PINK1):c.1053_1055delinsT (p.His352fs) | Autosomal recessive early-onset Parkinson disease 6 [RCV004818902] | likely pathogenic | 1 | 20645653 | 20645655 | Human | | name , alternate_id |
| 151843165 | CV1363252 | deletion | NM_032409.3(PINK1):c.338_346del (p.Glu113_Gln115del) | Autosomal recessive early-onset Parkinson disease 6 [RCV002032064] | uncertain significance | 1 | 20633883 | 20633891 | Human | 1 | name , alternate_id |
| 156074078 | CV2015595 | indel | NM_032409.3(PINK1):c.1631_1632delinsCT (p.Leu544Pro) | Autosomal recessive early-onset Parkinson disease 6 [RCV002705776] | uncertain significance | 1 | 20650576 | 20650577 | Human | | name , alternate_id |
| 156310415 | CV1928360 | duplication | NM_032409.3(PINK1):c.170_175dup (p.Arg58_Val59insGlyArg) | Autosomal recessive early-onset Parkinson disease 6 [RCV002648130] | uncertain significance | 1 | 20633717 | 20633718 | Human | 1 | name , alternate_id |
| 404994892 | CV3010684 | insertion | NM_032409.3(PINK1):c.1155_1156insTGCCCGCGTCCCTTTCTCCATAAAATTCTTCTTAGTAGCTA (p.Gly386delinsCysProArgProPheLeuHisLysIleLeuLeuSerSerTer) | Autosomal recessive early-onset Parkinson disease 6 [RCV003604966] | pathogenic | 1 | 20648536 | 20648537 | Human | 1 | name , alternate_id |
| 127263248 | CV1056845 | deletion | NC_000001.10:g.(?_20972043)_(20972226_?)del | Autosomal recessive early-onset Parkinson disease 6 [RCV001387908] | pathogenic | | | | Human | 1 | alternate_id |
| 8556799 | CV17451 | deletion | NC_000001.11:g.20646973_20651575del | Autosomal recessive early-onset Parkinson disease 6 [RCV000002513] | pathogenic | 1 | 20646970 | 20651572 | Human | 1 | alternate_id |
| 156438195 | CV1949834 | duplication | NC_000001.10:g.(?_19199339)_(22987879_?)dup | Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]|Congenital disorder of glycosylation type Ir [RCV003113321]|Hyperprolinemia type 2 [RCV003107740] | uncertain significance | | | | Human | 3 | alternate_id |
| 156450692 | CV1950570 | deletion | NC_000001.10:g.(?_20974682)_(20975609_?)del | Autosomal recessive early-onset Parkinson disease 6 [RCV003122866] | likely pathogenic | | | | Human | 1 | alternate_id |
| 156450693 | CV1950571 | deletion | NC_000001.10:g.(?_20972033)_(20972236_?)del | Autosomal recessive early-onset Parkinson disease 6 [RCV003122867] | pathogenic | | | | Human | 1 | alternate_id |
| 8598378 | CV24734 | single nucleotide variant | NC_012920.1(MT-ND6):m.14319T>C | Autosomal recessive early-onset Parkinson disease 6 [RCV000010335]|Leigh syndrome [RCV000855091] | risk factor|benign | MT | 14319 | 14319 | Human | 2 | alternate_id |
| 8598379 | CV24744 | single nucleotide variant | NC_012920.1(MT-ND5):m.12397A>G | Autosomal recessive early-onset Parkinson disease 6 [RCV000010351]|Leigh syndrome [RCV000854803] | risk factor|benign | MT | 12397 | 12397 | Human | 2 | alternate_id |
| 405873915 | CV3404262 | deletion | NC_000001.10:g.(?_20960807)_(20964608_?)del | Autosomal recessive early-onset Parkinson disease 6 [RCV004584039] | pathogenic | | | | Human | 1 | alternate_id |
| 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 | trait |
