NM_032409.3(PINK1):c.935G>A (p.Arg312Gln) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000543639] |
Chr1:20644648 [GRCh38] Chr1:20971141 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.952A>T (p.Met318Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000823919]|not provided [RCV000726608]|not specified [RCV000517984] |
Chr1:20644665 [GRCh38] Chr1:20971158 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1570_1573dup (p.Asp525fs) |
duplication |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002510] |
Chr1:20650512..20650513 [GRCh38] Chr1:20977005..20977006 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1597CAA[3] (p.Gln534dup) |
microsatellite |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002511] |
Chr1:20650541..20650542 [GRCh38] Chr1:20977034..20977035 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_005216.4(DDOST):c.*807_*5409del |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002513] |
Chr1:20646970..20651572 [GRCh38] Chr1:20973463..20978065 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.960-59_960-56dup |
duplication |
not provided [RCV001545161] |
Chr1:20645487..20645488 [GRCh38] Chr1:20971980..20971981 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.926G>A (p.Gly309Asp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002505] |
Chr1:20644639 [GRCh38] Chr1:20971132 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.813C>A (p.His271Gln) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002506] |
Chr1:20644526 [GRCh38] Chr1:20971019 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1311G>A (p.Trp437Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002507] |
Chr1:20649054 [GRCh38] Chr1:20975547 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.736C>T (p.Arg246Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002508] |
Chr1:20639952 [GRCh38] Chr1:20966445 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002509]|not provided [RCV002223750] |
Chr1:20645640 [GRCh38] Chr1:20972133 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.836G>A (p.Arg279His) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002512]|not provided [RCV002292454] |
Chr1:20644549 [GRCh38] Chr1:20971042 [GRCh37] Chr1:1p36.12 |
pathogenic|uncertain significance |
NM_032409.3(PINK1):c.938C>T (p.Thr313Met) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002514] |
Chr1:20644651 [GRCh38] Chr1:20971144 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.650C>A (p.Ala217Asp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002515] |
Chr1:20638104 [GRCh38] Chr1:20964597 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000002516]|not provided [RCV000627238] |
Chr1:20649109 [GRCh38] Chr1:20975602 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1291T>C (p.Tyr431His) |
single nucleotide variant |
Parkinson disease 6 [RCV000002517] |
Chr1:20649034 [GRCh38] Chr1:20975527 [GRCh37] Chr1:1p36.12 |
risk factor |
NM_032409.3(PINK1):c.1196C>T (p.Pro399Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000372794]|Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 [RCV000002518] |
Chr1:20648577 [GRCh38] Chr1:20975070 [GRCh37] Chr1:1p36.12 |
pathogenic|uncertain significance |
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 |
copy number loss |
See cases [RCV000051146] |
Chr1:15385267..20980349 [GRCh38] Chr1:15711763..21306842 [GRCh37] Chr1:15584350..21179429 [NCBI36] Chr1:1p36.21-36.12 |
pathogenic |
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 |
copy number gain |
See cases [RCV000051797] |
Chr1:13110797..20670207 [GRCh38] Chr1:13178269..20996700 [GRCh37] Chr1:13100856..20869287 [NCBI36] Chr1:1p36.21-36.12 |
pathogenic |
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 |
copy number loss |
See cases [RCV000053789] |
Chr1:18347821..22512894 [GRCh38] Chr1:18674315..22839387 [GRCh37] Chr1:18546902..22711974 [NCBI36] Chr1:1p36.13-36.12 |
pathogenic |
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 |
copy number loss |
See cases [RCV000053760] |
Chr1:10556797..22557907 [GRCh38] Chr1:10616854..22884400 [GRCh37] Chr1:10539441..22756987 [NCBI36] Chr1:1p36.22-36.12 |
pathogenic |
GRCh38/hg38 1p36.12(chr1:20374020-20736151)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053794]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053794]|See cases [RCV000053794] |
Chr1:20374020..20736151 [GRCh38] Chr1:20700513..21062644 [GRCh37] Chr1:20573100..20935231 [NCBI36] Chr1:1p36.12 |
pathogenic |
GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1 |
copy number loss |
See cases [RCV000053796] |
Chr1:20482657..21271999 [GRCh38] Chr1:20809150..21598492 [GRCh37] Chr1:20681737..21471079 [NCBI36] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.644C>T (p.Pro215Leu) |
single nucleotide variant |
Parkinson disease, late-onset [RCV000082875] |
Chr1:20638098 [GRCh38] Chr1:20964591 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.923T>A (p.Leu308Gln) |
single nucleotide variant |
Parkinson disease, late-onset [RCV000082876] |
Chr1:20644636 [GRCh38] Chr1:20971129 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000641727]|not provided [RCV000514116] |
Chr1:20638041 [GRCh38] Chr1:20964534 [GRCh37] Chr1:1p36.12 |
uncertain significance |
GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1 |
copy number loss |
See cases [RCV000138079] |
Chr1:19548795..20935131 [GRCh38] Chr1:19875289..21261624 [GRCh37] Chr1:19747876..21134211 [NCBI36] Chr1:1p36.13-36.12 |
likely pathogenic|uncertain significance |
NM_032409.3(PINK1):c.620del (p.Arg207fs) |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV000169671] |
Chr1:20638074 [GRCh38] Chr1:20964567 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1719C>G (p.Leu573=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000408162] |
Chr1:20650664 [GRCh38] Chr1:20977157 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*530AAGT[4] |
microsatellite |
Parkinson Disease, Recessive [RCV000261692] |
Chr1:20651217..20651218 [GRCh38] Chr1:20977710..20977711 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.165G>A (p.Glu55=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000875741] |
Chr1:20633713 [GRCh38] Chr1:20960206 [GRCh37] Chr1:1p36.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.799C>T (p.Gln267Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000190317] |
Chr1:20644512 [GRCh38] Chr1:20971005 [GRCh37] Chr1:1p36.12 |
not provided |
NM_032409.3(PINK1):c.858G>A (p.Pro286=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001078680]|not provided [RCV000712568] |
Chr1:20644571 [GRCh38] Chr1:20971064 [GRCh37] Chr1:1p36.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.1251+5G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000282458] |
Chr1:20648637 [GRCh38] Chr1:20975130 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.826C>T (p.Arg276Trp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000365674] |
Chr1:20644539 [GRCh38] Chr1:20971032 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.88G>C (p.Gly30Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000983814] |
Chr1:20633636 [GRCh38] Chr1:20960129 [GRCh37] Chr1:1p36.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000576611]|not provided [RCV001579479]|not specified [RCV001642905] |
Chr1:20633892 [GRCh38] Chr1:20960385 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.960-11C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000376299]|not provided [RCV001556973] |
Chr1:20645549 [GRCh38] Chr1:20972042 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
Single allele |
complex |
Ductal breast carcinoma [RCV000207058] |
Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11 |
uncertain significance |
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37] Chr1:1p36.12-12 |
likely benign |
chr1:17555508-24706269 complex variant |
complex |
Ductal breast carcinoma [RCV000207266] |
Chr1:17555508..24706269 [GRCh37] Chr1:1p36.13-36.11 |
uncertain significance |
NM_032409.3(PINK1):c.1018G>A (p.Ala340Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001000246]|not provided [RCV001707623]|not specified [RCV001579890] |
Chr1:20645618 [GRCh38] Chr1:20972111 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.695C>T (p.Ala232Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000325036]|Inborn genetic diseases [RCV002519476] |
Chr1:20639911 [GRCh38] Chr1:20966404 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1251+10G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001089095]|not provided [RCV000347514] |
Chr1:20648642 [GRCh38] Chr1:20975135 [GRCh37] Chr1:1p36.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.1698G>A (p.Thr566=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000352418]|not provided [RCV000874986] |
Chr1:20650643 [GRCh38] Chr1:20977136 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
NM_032409.3(PINK1):c.936G>A (p.Arg312=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001087099]|not provided [RCV000712569] |
Chr1:20644649 [GRCh38] Chr1:20971142 [GRCh37] Chr1:1p36.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.960-5G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000286413]|not provided [RCV000992541]|not specified [RCV000244222] |
Chr1:20645555 [GRCh38] Chr1:20972048 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.189C>T (p.Leu63=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000576424]|not provided [RCV001536653]|not specified [RCV000249312] |
Chr1:20633737 [GRCh38] Chr1:20960230 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.388-7A>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000270301]|not provided [RCV000992540]|not specified [RCV000254305] |
Chr1:20637835 [GRCh38] Chr1:20964328 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.*121G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000403213] |
Chr1:20650812 [GRCh38] Chr1:20977305 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*534A>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000385346] |
Chr1:20651225 [GRCh38] Chr1:20977718 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*18G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000308009] |
Chr1:20650709 [GRCh38] Chr1:20977202 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*349G>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000324669]|not provided [RCV002285305] |
Chr1:20651040 [GRCh38] Chr1:20977533 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
NM_032409.3(PINK1):c.*655T>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000347366] |
Chr1:20651346 [GRCh38] Chr1:20977839 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*807T>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000392272] |
Chr1:20651498 [GRCh38] Chr1:20977991 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*532G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100198]|Parkinson Disease, Recessive [RCV000330748] |
Chr1:20651223 [GRCh38] Chr1:20977716 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
NM_032409.3(PINK1):c.417G>T (p.Gly139=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002059126]|not provided [RCV000276153] |
Chr1:20637871 [GRCh38] Chr1:20964364 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
NM_032409.3(PINK1):c.31C>A (p.Leu11Met) |
single nucleotide variant |
not provided [RCV000389665] |
Chr1:20633579 [GRCh38] Chr1:20960072 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001037688]|not provided [RCV000725899]|not specified [RCV000287239] |
Chr1:20637888 [GRCh38] Chr1:20964381 [GRCh37] Chr1:1p36.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.1426G>A (p.Glu476Lys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001089386]|not provided [RCV000712566]|not specified [RCV000403403] |
Chr1:20649169 [GRCh38] Chr1:20975662 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098230]|not provided [RCV000873032]|not specified [RCV000518777] |
Chr1:20633615 [GRCh38] Chr1:20960108 [GRCh37] Chr1:1p36.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.*181C>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001096696]|Congenital disorder of glycosylation [RCV000327294]|Parkinson Disease, Recessive [RCV000309593]|not provided [RCV001642906] |
Chr1:20650872 [GRCh38] Chr1:20977365 [GRCh37] Chr1:1p36.12 |
benign |
NM_005216.5(DDOST):c.831C>T (p.Ala277=) |
single nucleotide variant |
Congenital disorder of glycosylation [RCV000380267]|Congenital disorder of glycosylation type Ir [RCV001511868]|Parkinson Disease, Recessive [RCV000310528]|not specified [RCV000424368] |
Chr1:20653738 [GRCh38] Chr1:20980231 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.*490A>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100196]|Congenital disorder of glycosylation [RCV000388055]|Parkinson Disease, Recessive [RCV000316648]|not provided [RCV001683179] |
Chr1:20651181 [GRCh38] Chr1:20977674 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.1578G>C (p.Lys526Asn) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000292882] |
Chr1:20650523 [GRCh38] Chr1:20977016 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*573_*576dup |
duplication |
Congenital disorder of glycosylation [RCV000334597]|Parkinson Disease, Recessive [RCV000382106] |
Chr1:20651261..20651262 [GRCh38] Chr1:20977754..20977755 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.*725GA[4] |
microsatellite |
Congenital disorder of glycosylation [RCV000338171]|Parkinson Disease, Recessive [RCV000339669] |
Chr1:20651414..20651415 [GRCh38] Chr1:20977907..20977908 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.*571del |
deletion |
Parkinson Disease, Recessive [RCV000350731] |
Chr1:20651261 [GRCh38] Chr1:20977754 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*196T>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098426]|Congenital disorder of glycosylation [RCV000384143]|Parkinson Disease, Recessive [RCV000359766]|not provided [RCV001536526] |
Chr1:20650887 [GRCh38] Chr1:20977380 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001000242]|Congenital disorder of glycosylation [RCV000362537]|Parkinson Disease, Recessive [RCV000408170]|not provided [RCV001610804]|not specified [RCV000595549] |
Chr1:20650507 [GRCh38] Chr1:20977000 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.675G>A (p.Ser225=) |
single nucleotide variant |
not provided [RCV000585016] |
Chr1:20638129 [GRCh38] Chr1:20964622 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_005216.5(DDOST):c.315C>T (p.Gly105=) |
single nucleotide variant |
Congenital disorder of glycosylation [RCV000372235]|Congenital disorder of glycosylation type Ir [RCV001509758]|Parkinson Disease, Recessive [RCV000367660]|not specified [RCV000427492] |
Chr1:20656138 [GRCh38] Chr1:20982631 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.*673_*675dup |
duplication |
Congenital disorder of glycosylation [RCV000372882]|Parkinson Disease, Recessive [RCV000392261] |
Chr1:20651361..20651362 [GRCh38] Chr1:20977854..20977855 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.*415C>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098431]|Congenital disorder of glycosylation [RCV000331316]|Parkinson Disease, Recessive [RCV000261476]|not provided [RCV001683178] |
Chr1:20651106 [GRCh38] Chr1:20977599 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.*265G>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098428]|Congenital disorder of glycosylation [RCV000292658]|Parkinson Disease, Recessive [RCV000265104]|not provided [RCV001651339] |
Chr1:20650956 [GRCh38] Chr1:20977449 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_005216.5(DDOST):c.*375_*376dup |
duplication |
Congenital disorder of glycosylation [RCV000392786]|Parkinson Disease, Recessive [RCV000396177] |
Chr1:20652002..20652003 [GRCh38] Chr1:20978495..20978496 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.*37A>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001096692]|Congenital disorder of glycosylation [RCV000269899]|Parkinson Disease, Recessive [RCV000362726]|not provided [RCV001660567] |
Chr1:20650728 [GRCh38] Chr1:20977221 [GRCh37] Chr1:1p36.12 |
benign |
NM_005216.5(DDOST):c.*40A>G |
single nucleotide variant |
Congenital disorder of glycosylation [RCV000329079]|Congenital disorder of glycosylation type Ir [RCV001660568]|Parkinson Disease, Recessive [RCV000271840]|not provided [RCV001668646] |
Chr1:20652339 [GRCh38] Chr1:20978832 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.*613A>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000287685] |
Chr1:20651304 [GRCh38] Chr1:20977797 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*510G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000375003] |
Chr1:20651201 [GRCh38] Chr1:20977694 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*672T>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001102187]|Congenital disorder of glycosylation [RCV000280759]|Parkinson Disease, Recessive [RCV000303492]|not provided [RCV001651340] |
Chr1:20651363 [GRCh38] Chr1:20977856 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_005216.5(DDOST):c.*542TAAA[6] |
microsatellite |
Congenital disorder of glycosylation [RCV000289864]|Parkinson Disease, Recessive [RCV000402856] |
Chr1:20651802..20651813 [GRCh38] Chr1:20978295..20978306 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.*564T>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100200]|Congenital disorder of glycosylation [RCV000296156]|Parkinson Disease, Recessive [RCV000295846]|not provided [RCV001683180] |
Chr1:20651255 [GRCh38] Chr1:20977748 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_005216.5(DDOST):c.*457A>C |
single nucleotide variant |
Parkinson Disease, Recessive [RCV000341895] |
Chr1:20651922 [GRCh38] Chr1:20978415 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.*356_*357del |
deletion |
Parkinson Disease, Recessive [RCV000360734] |
Chr1:20651046..20651047 [GRCh38] Chr1:20977539..20977540 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_005216.5(DDOST):c.*462A>G |
single nucleotide variant |
Parkinson Disease, Recessive [RCV000303398] |
Chr1:20651917 [GRCh38] Chr1:20978410 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.*519G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100197] |
Chr1:20651210 [GRCh38] Chr1:20977703 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.851C>A (p.Ser284Tyr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001857917]|not specified [RCV000516895] |
Chr1:20644564 [GRCh38] Chr1:20971057 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1173T>C (p.Asp391=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001087360]|not provided [RCV000712564] |
Chr1:20648554 [GRCh38] Chr1:20975047 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.279G>C (p.Ala93=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100003] |
Chr1:20633827 [GRCh38] Chr1:20960320 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1488G>A (p.Lys496=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000641729] |
Chr1:20649231 [GRCh38] Chr1:20975724 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.770C>T (p.Thr257Ile) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001101992]|not provided [RCV000416004] |
Chr1:20639986 [GRCh38] Chr1:20966479 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.169C>T (p.Arg57Cys) |
single nucleotide variant |
not provided [RCV000416055] |
Chr1:20633717 [GRCh38] Chr1:20960210 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.802C>G (p.Leu268Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001101993]|not provided [RCV000416244] |
Chr1:20644515 [GRCh38] Chr1:20971008 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.865C>A (p.Pro289Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002477740]|not provided [RCV000757618] |
Chr1:20644578 [GRCh38] Chr1:20971071 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.804A>G (p.Leu268=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000537959] |
Chr1:20644517 [GRCh38] Chr1:20971010 [GRCh37] Chr1:1p36.12 |
benign |
GRCh37/hg19 1p36.13-36.12(chr1:20067124-22537862)x1 |
copy number loss |
See cases [RCV000447314] |
Chr1:20067124..22537862 [GRCh37] Chr1:1p36.13-36.12 |
pathogenic |
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 |
copy number loss |
See cases [RCV000446470] |
Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12 |
pathogenic |
NM_032409.3(PINK1):c.1474C>T (p.Arg492Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000814157]|not provided [RCV000497743] |
Chr1:20649217 [GRCh38] Chr1:20975710 [GRCh37] Chr1:1p36.12 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_032409.3(PINK1):c.1010G>A (p.Arg337His) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001857024]|not provided [RCV000498448] |
Chr1:20645610 [GRCh38] Chr1:20972103 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.502G>C (p.Ala168Pro) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002527092]|PINK1-Related Parkinsonism [RCV000509548]|not provided [RCV000494163] |
Chr1:20637956 [GRCh38] Chr1:20964449 [GRCh37] Chr1:1p36.12 |
pathogenic|likely pathogenic|not provided |
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000765035]|not provided [RCV000585478] |
Chr1:20638019 [GRCh38] Chr1:20964512 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1015G>A (p.Ala339Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000641728]|not provided [RCV000594876] |
Chr1:20645615 [GRCh38] Chr1:20972108 [GRCh37] Chr1:1p36.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.1153T>C (p.Phe385Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001861701]|not provided [RCV000658504] |
Chr1:20648534 [GRCh38] Chr1:20975027 [GRCh37] Chr1:1p36.12 |
likely pathogenic|uncertain significance |
NM_032409.3(PINK1):c.1362C>T (p.Tyr454=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002532933]|not provided [RCV000712565] |
Chr1:20649105 [GRCh38] Chr1:20975598 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.155C>T (p.Pro52Leu) |
single nucleotide variant |
not provided [RCV000712567] |
Chr1:20633703 [GRCh38] Chr1:20960196 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.599del (p.Ala200fs) |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV000705048] |
Chr1:20638053 [GRCh38] Chr1:20964546 [GRCh37] Chr1:1p36.12 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44 |
pathogenic |
NM_032409.3(PINK1):c.675+167A>T |
single nucleotide variant |
not provided [RCV001612615] |
Chr1:20638296 [GRCh38] Chr1:20964789 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.388-65_388-64del |
deletion |
not provided [RCV001709213] |
Chr1:20637777..20637778 [GRCh38] Chr1:20964270..20964271 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.1147G>A (p.Ala383Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100108]|not provided [RCV000756487] |
Chr1:20648528 [GRCh38] Chr1:20975021 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
NM_032409.3(PINK1):c.1108G>A (p.Val370Met) |
single nucleotide variant |
not provided [RCV000992539] |
Chr1:20645708 [GRCh38] Chr1:20972201 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.835C>T (p.Arg279Cys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001096587] |
Chr1:20644548 [GRCh38] Chr1:20971041 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.537C>T (p.Pro179=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000892728] |
Chr1:20637991 [GRCh38] Chr1:20964484 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1549C>T (p.Leu517=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001407761]|not provided [RCV000952387] |
Chr1:20650494 [GRCh38] Chr1:20976987 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.776+10C>T |
single nucleotide variant |
not provided [RCV000926251] |
Chr1:20640002 [GRCh38] Chr1:20966495 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1605G>A (p.Ser535=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002068706]|not provided [RCV000981750] |
Chr1:20650550 [GRCh38] Chr1:20977043 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000873018]|not provided [RCV001093405] |
Chr1:20648612 [GRCh38] Chr1:20975105 [GRCh37] Chr1:1p36.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.153A>G (p.Gly51=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002501324] |
Chr1:20633701 [GRCh38] Chr1:20960194 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1481C>T (p.Ala494Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100110]|not provided [RCV000877731] |
Chr1:20649224 [GRCh38] Chr1:20975717 [GRCh37] Chr1:1p36.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.267C>T (p.Ala89=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100002]|not provided [RCV000878557] |
Chr1:20633815 [GRCh38] Chr1:20960308 [GRCh37] Chr1:1p36.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.564C>T (p.Thr188=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001402357]|not provided [RCV000880512] |
Chr1:20638018 [GRCh38] Chr1:20964511 [GRCh37] Chr1:1p36.12 |
likely benign |
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1 |
uncertain significance |
NM_032409.3(PINK1):c.665G>A (p.Trp222Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000778216] |
Chr1:20638119 [GRCh38] Chr1:20964612 [GRCh37] Chr1:1p36.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.322del (p.Leu108fs) |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV000778215] |
Chr1:20633870 [GRCh38] Chr1:20960363 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000778217] |
Chr1:20639990 [GRCh38] Chr1:20966483 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1212C>G (p.Tyr404Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000778218] |
Chr1:20648593 [GRCh38] Chr1:20975086 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1077G>A (p.Ala359=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000875233] |
Chr1:20645677 [GRCh38] Chr1:20972170 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.852C>T (p.Ser284=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000884090] |
Chr1:20644565 [GRCh38] Chr1:20971058 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.939G>A (p.Thr313=) |
single nucleotide variant |
not provided [RCV000899197] |
Chr1:20644652 [GRCh38] Chr1:20971145 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.273del (p.Cys92fs) |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV000822134] |
Chr1:20633821 [GRCh38] Chr1:20960314 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1096G>A (p.Asp366Asn) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000820662] |
Chr1:20645696 [GRCh38] Chr1:20972189 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.13C>T (p.Gln5Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000818442] |
Chr1:20633561 [GRCh38] Chr1:20960054 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.962A>G (p.Tyr321Cys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000808530] |
Chr1:20645562 [GRCh38] Chr1:20972055 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*263C>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098427] |
Chr1:20650954 [GRCh38] Chr1:20977447 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.960-11C>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001096589] |
Chr1:20645549 [GRCh38] Chr1:20972042 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*40G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001096693]|not provided [RCV001707862] |
Chr1:20650731 [GRCh38] Chr1:20977224 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.745T>G (p.Leu249Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001057867]|not provided [RCV000993933] |
Chr1:20639961 [GRCh38] Chr1:20966454 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*340C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098429] |
Chr1:20651031 [GRCh38] Chr1:20977524 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.626C>T (p.Pro209Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000802378] |
Chr1:20638080 [GRCh38] Chr1:20964573 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.387+14G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100004]|not provided [RCV002462329] |
Chr1:20633949 [GRCh38] Chr1:20960442 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.887C>T (p.Pro296Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001096588] |
Chr1:20644600 [GRCh38] Chr1:20971093 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1065A>G (p.Gln355=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001065233]|not provided [RCV002275205] |
Chr1:20645665 [GRCh38] Chr1:20972158 [GRCh37] Chr1:1p36.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.1488+1G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001235370] |
Chr1:20649232 [GRCh38] Chr1:20975725 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1220G>A (p.Arg407Gln) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001242824] |
Chr1:20648601 [GRCh38] Chr1:20975094 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1252-1G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001202589] |
Chr1:20648994 [GRCh38] Chr1:20975487 [GRCh37] Chr1:1p36.12 |
likely pathogenic |
NM_032409.3(PINK1):c.*64G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001096694] |
Chr1:20650755 [GRCh38] Chr1:20977248 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*113G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001096695] |
Chr1:20650804 [GRCh38] Chr1:20977297 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*586T>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001102186] |
Chr1:20651277 [GRCh38] Chr1:20977770 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*817C>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001102189] |
Chr1:20651508 [GRCh38] Chr1:20978001 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1003A>G (p.Ser335Gly) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098319] |
Chr1:20645603 [GRCh38] Chr1:20972096 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.675+9C>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003104861] |
Chr1:20638138 [GRCh38] Chr1:20964631 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.675+50T>C |
single nucleotide variant |
not provided [RCV001571866] |
Chr1:20638179 [GRCh38] Chr1:20964672 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.776+38_776+40del |
deletion |
not provided [RCV001663666] |
Chr1:20640030..20640032 [GRCh38] Chr1:20966523..20966525 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NC_000001.10:g.(?_19199339)_(22987879_?)dup |
duplication |
Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]|Congenital disorder of glycosylation type Ir [RCV003113321]|Deficiency of pyrroline-5-carboxylate reductase [RCV003107740] |
Chr1:19199339..22987879 [GRCh37] Chr1:1p36.13-36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1488+296G>A |
single nucleotide variant |
not provided [RCV001645097] |
Chr1:20649527 [GRCh38] Chr1:20976020 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.676-77G>A |
single nucleotide variant |
not provided [RCV001666316] |
Chr1:20639815 [GRCh38] Chr1:20966308 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.1251+43C>T |
single nucleotide variant |
not provided [RCV001715844] |
Chr1:20648675 [GRCh38] Chr1:20975168 [GRCh37] Chr1:1p36.12 |
benign |
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 |
copy number loss |
1p36.1 deletion syndrome [RCV001614471] |
Chr1:16785250..23491592 [GRCh37] Chr1:1p36.13-36.12 |
pathogenic |
NM_032409.3(PINK1):c.1123+161del |
deletion |
not provided [RCV001693285] |
Chr1:20645881 [GRCh38] Chr1:20972374 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.960-178G>A |
single nucleotide variant |
not provided [RCV001639935] |
Chr1:20645382 [GRCh38] Chr1:20971875 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.1502G>A (p.Arg501Gln) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000873565]|not provided [RCV001555281] |
Chr1:20650447 [GRCh38] Chr1:20976940 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.948C>T (p.Leu316=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000873607] |
Chr1:20644661 [GRCh38] Chr1:20971154 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.827G>A (p.Arg276Gln) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV000969584] |
Chr1:20644540 [GRCh38] Chr1:20971033 [GRCh37] Chr1:1p36.12 |
benign|conflicting interpretations of pathogenicity |
NM_032409.3(PINK1):c.454C>T (p.Arg152Trp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001198772] |
Chr1:20637908 [GRCh38] Chr1:20964401 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.124C>T (p.Arg42Cys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001208666] |
Chr1:20633672 [GRCh38] Chr1:20960165 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.960-58_960-56dup |
duplication |
not provided [RCV001659661] |
Chr1:20645487..20645488 [GRCh38] Chr1:20971980..20971981 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.1124-159del |
deletion |
not provided [RCV001597379] |
Chr1:20648344 [GRCh38] Chr1:20974837 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.960-54G>A |
single nucleotide variant |
not provided [RCV001660760] |
Chr1:20645506 [GRCh38] Chr1:20971999 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.388-93C>T |
single nucleotide variant |
not provided [RCV001551654] |
Chr1:20637749 [GRCh38] Chr1:20964242 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1124-258A>G |
single nucleotide variant |
not provided [RCV001559432] |
Chr1:20648247 [GRCh38] Chr1:20974740 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.959+72G>C |
single nucleotide variant |
not provided [RCV001575880] |
Chr1:20644744 [GRCh38] Chr1:20971237 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.676-299G>A |
single nucleotide variant |
not provided [RCV001636382] |
Chr1:20639593 [GRCh38] Chr1:20966086 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.960-55C>A |
single nucleotide variant |
not provided [RCV001677717] |
Chr1:20645505 [GRCh38] Chr1:20971998 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.1124-196A>G |
single nucleotide variant |
not provided [RCV001637745] |
Chr1:20648309 [GRCh38] Chr1:20974802 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.959+299C>T |
single nucleotide variant |
not provided [RCV001599176] |
Chr1:20644971 [GRCh38] Chr1:20971464 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.*352G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098430] |
Chr1:20651043 [GRCh38] Chr1:20977536 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.414G>A (p.Pro138=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100005] |
Chr1:20637868 [GRCh38] Chr1:20964361 [GRCh37] Chr1:1p36.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.*542G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100199] |
Chr1:20651233 [GRCh38] Chr1:20977726 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.620G>A (p.Arg207Gln) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001101991] |
Chr1:20638074 [GRCh38] Chr1:20964567 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.813C>T (p.His271=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001101994] |
Chr1:20644526 [GRCh38] Chr1:20971019 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1729T>C (p.Trp577Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001102105] |
Chr1:20650674 [GRCh38] Chr1:20977167 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*579C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001102185] |
Chr1:20651270 [GRCh38] Chr1:20977763 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*702G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001102188] |
Chr1:20651393 [GRCh38] Chr1:20977886 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.388-269G>A |
single nucleotide variant |
not provided [RCV001648949] |
Chr1:20637573 [GRCh38] Chr1:20964066 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.449G>A (p.Gly150Asp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001049353] |
Chr1:20637903 [GRCh38] Chr1:20964396 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1123+124G>A |
single nucleotide variant |
not provided [RCV001649061] |
Chr1:20645847 [GRCh38] Chr1:20972340 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.1251+153C>T |
single nucleotide variant |
not provided [RCV001587532] |
Chr1:20648785 [GRCh38] Chr1:20975278 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.960-56del |
deletion |
not provided [RCV001693798] |
Chr1:20645488 [GRCh38] Chr1:20971981 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.1489-168C>T |
single nucleotide variant |
not provided [RCV001690841] |
Chr1:20650266 [GRCh38] Chr1:20976759 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.1194G>A (p.Leu398=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100109] |
Chr1:20648575 [GRCh38] Chr1:20975068 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.*571C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001100201] |
Chr1:20651262 [GRCh38] Chr1:20977755 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1095C>T (p.Ser365=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098321]|not provided [RCV001312068] |
Chr1:20645695 [GRCh38] Chr1:20972188 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
NM_032409.3(PINK1):c.1728A>G (p.Ser576=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001102104]|not provided [RCV001531618] |
Chr1:20650673 [GRCh38] Chr1:20977166 [GRCh37] Chr1:1p36.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.218C>T (p.Ser73Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098231] |
Chr1:20633766 [GRCh38] Chr1:20960259 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001098320] |
Chr1:20645675 [GRCh38] Chr1:20972168 [GRCh37] Chr1:1p36.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.161C>A (p.Ala54Glu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001332675] |
Chr1:20633709 [GRCh38] Chr1:20960202 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1162T>C (p.Cys388Arg) |
single nucleotide variant |
not provided [RCV001268493] |
Chr1:20648543 [GRCh38] Chr1:20975036 [GRCh37] Chr1:1p36.12 |
likely pathogenic |
GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1 |
copy number loss |
not provided [RCV001259567] |
Chr1:17284906..21778495 [GRCh37] Chr1:1p36.13-36.12 |
pathogenic |
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1 |
copy number loss |
not provided [RCV001259568] |
Chr1:16041431..21295864 [GRCh37] Chr1:1p36.21-36.12 |
pathogenic |
NM_032409.3(PINK1):c.1382T>G (p.Leu461Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002541784]|not provided [RCV001288267] |
Chr1:20649125 [GRCh38] Chr1:20975618 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.838G>A (p.Ala280Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001316973] |
Chr1:20644551 [GRCh38] Chr1:20971044 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.559_560del (p.Ser187fs) |
microsatellite |
Parkinson disease 6, autosomal recessive early-onset [RCV001336760] |
Chr1:20638011..20638012 [GRCh38] Chr1:20964504..20964505 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.76G>C (p.Gly26Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001315604] |
Chr1:20633624 [GRCh38] Chr1:20960117 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001309834] |
Chr1:20650518 [GRCh38] Chr1:20977011 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.488G>A (p.Gly163Asp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001343996] |
Chr1:20637942 [GRCh38] Chr1:20964435 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.388-3C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001320820] |
Chr1:20637839 [GRCh38] Chr1:20964332 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1580T>C (p.Met527Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001306974] |
Chr1:20650525 [GRCh38] Chr1:20977018 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1123+19A>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001332674] |
Chr1:20645742 [GRCh38] Chr1:20972235 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.624T>C (p.Ala208=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001496804] |
Chr1:20638078 [GRCh38] Chr1:20964571 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1530C>T (p.Ser510=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001489100] |
Chr1:20650475 [GRCh38] Chr1:20976968 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.709A>G (p.Met237Val) |
single nucleotide variant |
not provided [RCV001528517] |
Chr1:20639925 [GRCh38] Chr1:20966418 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.690C>T (p.Ser230=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001463584] |
Chr1:20639906 [GRCh38] Chr1:20966399 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.676-240T>C |
single nucleotide variant |
not provided [RCV001541199] |
Chr1:20639652 [GRCh38] Chr1:20966145 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.426G>A (p.Pro142=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001436294]|not provided [RCV001815550] |
Chr1:20637880 [GRCh38] Chr1:20964373 [GRCh37] Chr1:1p36.12 |
likely benign |
NC_000001.10:g.(?_20972043)_(20972226_?)del |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV001387908] |
Chr1:20972043..20972226 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1252-25T>C |
single nucleotide variant |
not provided [RCV001686234] |
Chr1:20648970 [GRCh38] Chr1:20975463 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001520961]|not provided [RCV002264373]|not specified [RCV002246404] |
Chr1:20638012 [GRCh38] Chr1:20964505 [GRCh37] Chr1:1p36.12 |
benign|uncertain significance |
NM_032409.3(PINK1):c.1123+91_1123+104del |
deletion |
not provided [RCV001707444] |
Chr1:20645812..20645825 [GRCh38] Chr1:20972305..20972318 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.960-57_960-56dup |
duplication |
not provided [RCV001653292] |
Chr1:20645487..20645488 [GRCh38] Chr1:20971980..20971981 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.960-142G>C |
single nucleotide variant |
not provided [RCV001652206] |
Chr1:20645418 [GRCh38] Chr1:20971911 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.960-56dup |
duplication |
not provided [RCV001652482] |
Chr1:20645487..20645488 [GRCh38] Chr1:20971980..20971981 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.388-65C>G |
single nucleotide variant |
not provided [RCV001685733] |
Chr1:20637777 [GRCh38] Chr1:20964270 [GRCh37] Chr1:1p36.12 |
benign |
Single allele |
single nucleotide variant |
not provided [RCV001649842] |
Chr1:20633253 [GRCh38] Chr1:20959746 [GRCh37] Chr1:1p36.12 |
benign |
NM_032409.3(PINK1):c.942G>A (p.Leu314=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001490942] |
Chr1:20644655 [GRCh38] Chr1:20971148 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1023G>A (p.Met341Ile) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001475962] |
Chr1:20645623 [GRCh38] Chr1:20972116 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.435G>A (p.Thr145=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001464411] |
Chr1:20637889 [GRCh38] Chr1:20964382 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.949G>A (p.Val317Ile) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002503189]|not provided [RCV001756568] |
Chr1:20644662 [GRCh38] Chr1:20971155 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.292C>T (p.Arg98Trp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001782634] |
Chr1:20633840 [GRCh38] Chr1:20960333 [GRCh37] Chr1:1p36.12 |
likely pathogenic |
NM_032409.3(PINK1):c.857C>T (p.Pro286Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001868426]|not provided [RCV001754685] |
Chr1:20644570 [GRCh38] Chr1:20971063 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.905G>A (p.Arg302His) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001861116]|See cases [RCV002252699]|not provided [RCV001772645] |
Chr1:20644618 [GRCh38] Chr1:20971111 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1024A>C (p.Met342Leu) |
single nucleotide variant |
not provided [RCV001767519] |
Chr1:20645624 [GRCh38] Chr1:20972117 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.250C>T (p.Gln84Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001784840] |
Chr1:20633798 [GRCh38] Chr1:20960291 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.915T>A (p.Pro305=) |
single nucleotide variant |
not provided [RCV001763779] |
Chr1:20644628 [GRCh38] Chr1:20971121 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1264C>T (p.Arg422Cys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001964041] |
Chr1:20649007 [GRCh38] Chr1:20975500 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.968G>A (p.Cys323Tyr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001908877] |
Chr1:20645568 [GRCh38] Chr1:20972061 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.666G>A (p.Trp222Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001915142] |
Chr1:20638120 [GRCh38] Chr1:20964613 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1219C>T (p.Arg407Trp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002002099] |
Chr1:20648600 [GRCh38] Chr1:20975093 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.101C>G (p.Pro34Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001893903] |
Chr1:20633649 [GRCh38] Chr1:20960142 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.630G>T (p.Gly210=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001984939] |
Chr1:20638084 [GRCh38] Chr1:20964577 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
NM_032409.3(PINK1):c.648G>T (p.Leu216Phe) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001894391] |
Chr1:20638102 [GRCh38] Chr1:20964595 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1123+4G>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001890433] |
Chr1:20645727 [GRCh38] Chr1:20972220 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1475G>A (p.Arg492Gln) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001941193] |
Chr1:20649218 [GRCh38] Chr1:20975711 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1544A>G (p.His515Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002048084] |
Chr1:20650489 [GRCh38] Chr1:20976982 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1121C>G (p.Pro374Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001887256] |
Chr1:20645721 [GRCh38] Chr1:20972214 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1609G>A (p.Ala537Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002037134] |
Chr1:20650554 [GRCh38] Chr1:20977047 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.439C>T (p.Arg147Cys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002018543] |
Chr1:20637893 [GRCh38] Chr1:20964386 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.371C>T (p.Ala124Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001979733] |
Chr1:20633919 [GRCh38] Chr1:20960412 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.199C>T (p.Leu67Phe) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001933371] |
Chr1:20633747 [GRCh38] Chr1:20960240 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.959+4A>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001878746] |
Chr1:20644676 [GRCh38] Chr1:20971169 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.47C>T (p.Ala16Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001883055] |
Chr1:20633595 [GRCh38] Chr1:20960088 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
NM_032409.3(PINK1):c.1329del (p.Tyr444fs) |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV001917853] |
Chr1:20649071 [GRCh38] Chr1:20975564 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.634C>T (p.Pro212Ser) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002016848] |
Chr1:20638088 [GRCh38] Chr1:20964581 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1009C>T (p.Arg337Cys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002027098] |
Chr1:20645609 [GRCh38] Chr1:20972102 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.388-10C>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001975854] |
Chr1:20637832 [GRCh38] Chr1:20964325 [GRCh37] Chr1:1p36.12 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_032409.3(PINK1):c.1391G>A (p.Arg464His) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001916034] |
Chr1:20649134 [GRCh38] Chr1:20975627 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.805G>A (p.Ala269Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001973824] |
Chr1:20644518 [GRCh38] Chr1:20971011 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1024A>G (p.Met342Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001958415] |
Chr1:20645624 [GRCh38] Chr1:20972117 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.902C>T (p.Ser301Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001976687] |
Chr1:20644615 [GRCh38] Chr1:20971108 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1606G>T (p.Ala536Ser) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001959731] |
Chr1:20650551 [GRCh38] Chr1:20977044 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.338_346del (p.Glu113_Gln115del) |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV002032064] |
Chr1:20633883..20633891 [GRCh38] Chr1:20960376..20960384 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1442A>T (p.Asp481Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001930254] |
Chr1:20649185 [GRCh38] Chr1:20975678 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1579A>G (p.Met527Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002035204] |
Chr1:20650524 [GRCh38] Chr1:20977017 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1627A>G (p.Arg543Gly) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001996902] |
Chr1:20650572 [GRCh38] Chr1:20977065 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.25C>G (p.Arg9Gly) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001870326] |
Chr1:20633573 [GRCh38] Chr1:20960066 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.311T>G (p.Phe104Cys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001906766] |
Chr1:20633859 [GRCh38] Chr1:20960352 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.85_106del (p.Tyr29fs) |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV001960635] |
Chr1:20633623..20633644 [GRCh38] Chr1:20960116..20960137 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.116G>T (p.Gly39Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001918474] |
Chr1:20633664 [GRCh38] Chr1:20960157 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1167G>A (p.Leu389=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001953103] |
Chr1:20648548 [GRCh38] Chr1:20975041 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1252G>A (p.Val418Met) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001918802] |
Chr1:20648995 [GRCh38] Chr1:20975488 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.141C>G (p.Gly47=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002011781] |
Chr1:20633689 [GRCh38] Chr1:20960182 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
NM_032409.3(PINK1):c.644C>G (p.Pro215Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV001932839] |
Chr1:20638098 [GRCh38] Chr1:20964591 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.69C>G (p.Gly23=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002146790] |
Chr1:20633617 [GRCh38] Chr1:20960110 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1512A>C (p.Ala504=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002090479] |
Chr1:20650457 [GRCh38] Chr1:20976950 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.177C>T (p.Val59=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002146161] |
Chr1:20633725 [GRCh38] Chr1:20960218 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1251+19A>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002148294] |
Chr1:20648651 [GRCh38] Chr1:20975144 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.675+8C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002126790] |
Chr1:20638137 [GRCh38] Chr1:20964630 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.960-18del |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV002109009] |
Chr1:20645540 [GRCh38] Chr1:20972033 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1689G>A (p.Glu563=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002107717] |
Chr1:20650634 [GRCh38] Chr1:20977127 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1419A>G (p.Ala473=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002192147] |
Chr1:20649162 [GRCh38] Chr1:20975655 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.736C>A (p.Arg246=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002208467] |
Chr1:20639952 [GRCh38] Chr1:20966445 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.960-17T>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002093624] |
Chr1:20645543 [GRCh38] Chr1:20972036 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.504T>C (p.Ala168=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002195103] |
Chr1:20637958 [GRCh38] Chr1:20964451 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1251+9C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002150450] |
Chr1:20648641 [GRCh38] Chr1:20975134 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1488+17C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002152828] |
Chr1:20649248 [GRCh38] Chr1:20975741 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1260G>A (p.Thr420=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002189796] |
Chr1:20649003 [GRCh38] Chr1:20975496 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.139G>C (p.Gly47Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002481026]|Inborn genetic diseases [RCV003101225]|See cases [RCV002252773]|not provided [RCV002211079] |
Chr1:20633687 [GRCh38] Chr1:20960180 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1488+15G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002205445] |
Chr1:20649246 [GRCh38] Chr1:20975739 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.960-12C>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002159455] |
Chr1:20645548 [GRCh38] Chr1:20972041 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.627G>A (p.Pro209=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002216640] |
Chr1:20638081 [GRCh38] Chr1:20964574 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1047C>A (p.Gly349=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002103131] |
Chr1:20645647 [GRCh38] Chr1:20972140 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1011C>T (p.Arg337=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002161335] |
Chr1:20645611 [GRCh38] Chr1:20972104 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.546G>A (p.Leu182=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002119350] |
Chr1:20638000 [GRCh38] Chr1:20964493 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.315G>A (p.Gly105=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002160167] |
Chr1:20633863 [GRCh38] Chr1:20960356 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.960-13C>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002143164] |
Chr1:20645547 [GRCh38] Chr1:20972040 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1017C>T (p.Ala339=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002219545] |
Chr1:20645617 [GRCh38] Chr1:20972110 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.387+20A>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002164307] |
Chr1:20633955 [GRCh38] Chr1:20960448 [GRCh37] Chr1:1p36.12 |
benign|likely benign |
NM_032409.3(PINK1):c.429G>A (p.Leu143=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002202287] |
Chr1:20637883 [GRCh38] Chr1:20964376 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1719C>T (p.Leu573=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002201432] |
Chr1:20650664 [GRCh38] Chr1:20977157 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1125C>T (p.Asp375=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002101948] |
Chr1:20648506 [GRCh38] Chr1:20974999 [GRCh37] Chr1:1p36.12 |
likely benign |
NC_000001.10:g.(?_19199339)_(24690861_?)dup |
duplication |
Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155] |
Chr1:19199339..24690861 [GRCh37] Chr1:1p36.13-36.11 |
uncertain significance |
NC_000001.10:g.(?_20974682)_(20975609_?)del |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV003122866] |
Chr1:20974682..20975609 [GRCh37] Chr1:1p36.12 |
likely pathogenic |
NC_000001.10:g.(?_20972033)_(20972236_?)del |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV003122867] |
Chr1:20972033..20972236 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.898C>T (p.Pro300Ser) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002273040] |
Chr1:20644611 [GRCh38] Chr1:20971104 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NR_046507.1(PINK1-AS):n.629C>T |
single nucleotide variant |
Leprosy, susceptibility to, 1 [RCV002291820] |
Chr1:20651565 [GRCh38] Chr1:20978058 [GRCh37] Chr1:1p36.12 |
uncertain risk allele |
NM_032409.3(PINK1):c.1183G>A (p.Gly395Ser) |
single nucleotide variant |
not provided [RCV002475083] |
Chr1:20648564 [GRCh38] Chr1:20975057 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1499C>G (p.Ala500Gly) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002303841] |
Chr1:20650444 [GRCh38] Chr1:20976937 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.158G>A (p.Gly53Asp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002295373] |
Chr1:20633706 [GRCh38] Chr1:20960199 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.387+5G>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002776017] |
Chr1:20633940 [GRCh38] Chr1:20960433 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.203_204delinsCT (p.Arg68Pro) |
indel |
Autosomal recessive early-onset Parkinson disease 6 [RCV002904166] |
Chr1:20633751..20633752 [GRCh38] Chr1:20960244..20960245 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.837C>T (p.Arg279_Ala280=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002967673] |
Chr1:20644550 [GRCh38] Chr1:20971043 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.737G>A (p.Arg246Gln) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002948006] |
Chr1:20639953 [GRCh38] Chr1:20966446 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.556A>G (p.Lys186Glu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002885977]|Inborn genetic diseases [RCV002882275] |
Chr1:20638010 [GRCh38] Chr1:20964503 [GRCh37] Chr1:1p36.12 |
likely benign|uncertain significance |
NM_032409.3(PINK1):c.864_865delinsAA (p.Pro289Thr) |
indel |
Autosomal recessive early-onset Parkinson disease 6 [RCV002617827] |
Chr1:20644577..20644578 [GRCh38] Chr1:20971070..20971071 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.65C>T (p.Thr22Met) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002908522] |
Chr1:20633613 [GRCh38] Chr1:20960106 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1398C>T (p.Tyr466_Gln467=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002866062] |
Chr1:20649141 [GRCh38] Chr1:20975634 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.639C>T (p.Ala213_Phe214=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002755427] |
Chr1:20638093 [GRCh38] Chr1:20964586 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.288C>G (p.Cys96Trp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003076166] |
Chr1:20633836 [GRCh38] Chr1:20960329 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.662T>C (p.Met221Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002793658] |
Chr1:20638116 [GRCh38] Chr1:20964609 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.472A>G (p.Ile158Val) |
single nucleotide variant |
not provided [RCV002462645] |
Chr1:20637926 [GRCh38] Chr1:20964419 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.512A>G (p.Tyr171Cys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002618652] |
Chr1:20637966 [GRCh38] Chr1:20964459 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1501C>T (p.Arg501Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002908184] |
Chr1:20650446 [GRCh38] Chr1:20976939 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.853G>A (p.Val285Met) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002785720] |
Chr1:20644566 [GRCh38] Chr1:20971059 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.413C>G (p.Pro138Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002953628] |
Chr1:20637867 [GRCh38] Chr1:20964360 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.616G>A (p.Glu206Lys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003078652] |
Chr1:20638070 [GRCh38] Chr1:20964563 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.388-5C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002885976] |
Chr1:20637837 [GRCh38] Chr1:20964330 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1107T>C (p.Leu369_Val370=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003078146] |
Chr1:20645707 [GRCh38] Chr1:20972200 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1099A>C (p.Asn367His) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002735179] |
Chr1:20645699 [GRCh38] Chr1:20972192 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1631_1632delinsCT (p.Leu544Pro) |
indel |
Autosomal recessive early-onset Parkinson disease 6 [RCV002705776] |
Chr1:20650576..20650577 [GRCh38] Chr1:20977069..20977070 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.184G>C (p.Gly62Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002609969]|Inborn genetic diseases [RCV002621788] |
Chr1:20633732 [GRCh38] Chr1:20960225 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.710del (p.Met237fs) |
deletion |
Autosomal recessive early-onset Parkinson disease 6 [RCV002913039] |
Chr1:20639926 [GRCh38] Chr1:20966419 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1560G>A (p.Lys520_Asn521=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002780907] |
Chr1:20650505 [GRCh38] Chr1:20976998 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.129G>A (p.Gly43_Glu44=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002694951] |
Chr1:20633677 [GRCh38] Chr1:20960170 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.328C>A (p.Leu110Ile) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002912640] |
Chr1:20633876 [GRCh38] Chr1:20960369 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1124-10T>C |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002785486] |
Chr1:20648495 [GRCh38] Chr1:20974988 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.387+15G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002912664] |
Chr1:20633950 [GRCh38] Chr1:20960443 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1252-20C>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003035564] |
Chr1:20648975 [GRCh38] Chr1:20975468 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.202C>T (p.Arg68Cys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002690857] |
Chr1:20633750 [GRCh38] Chr1:20960243 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1488+20C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002886441] |
Chr1:20649251 [GRCh38] Chr1:20975744 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.998C>T (p.Thr333Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002845006] |
Chr1:20645598 [GRCh38] Chr1:20972091 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.754G>A (p.Glu252Lys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003081211] |
Chr1:20639970 [GRCh38] Chr1:20966463 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.385C>G (p.Gln129Glu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003100575] |
Chr1:20633933 [GRCh38] Chr1:20960426 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.85T>G (p.Tyr29Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002697681] |
Chr1:20633633 [GRCh38] Chr1:20960126 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1356C>T (p.Pro452_Phe453=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003084605] |
Chr1:20649099 [GRCh38] Chr1:20975592 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.913C>G (p.Pro305Ala) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003059762] |
Chr1:20644626 [GRCh38] Chr1:20971119 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.91T>G (p.Leu31Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002713041] |
Chr1:20633639 [GRCh38] Chr1:20960132 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1252-18C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002643973] |
Chr1:20648977 [GRCh38] Chr1:20975470 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.425C>T (p.Pro142Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003041839] |
Chr1:20637879 [GRCh38] Chr1:20964372 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1271G>A (p.Gly424Asp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002957601] |
Chr1:20649014 [GRCh38] Chr1:20975507 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.960-8T>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003022349] |
Chr1:20645552 [GRCh38] Chr1:20972045 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1130G>T (p.Cys377Phe) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002625282] |
Chr1:20648511 [GRCh38] Chr1:20975004 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1265G>A (p.Arg422His) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002917345] |
Chr1:20649008 [GRCh38] Chr1:20975501 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.223G>T (p.Ala75Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002708782] |
Chr1:20633771 [GRCh38] Chr1:20960264 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1510G>A (p.Ala504Thr) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003083106] |
Chr1:20650455 [GRCh38] Chr1:20976948 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.314G>T (p.Gly105Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003041173] |
Chr1:20633862 [GRCh38] Chr1:20960355 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.388-18A>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002893905] |
Chr1:20637824 [GRCh38] Chr1:20964317 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.786G>C (p.Lys262Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002930384] |
Chr1:20644499 [GRCh38] Chr1:20970992 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.776+18G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002644459] |
Chr1:20640010 [GRCh38] Chr1:20966503 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.676-17C>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003022880] |
Chr1:20639875 [GRCh38] Chr1:20966368 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.364G>C (p.Val122Leu) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002931940] |
Chr1:20633912 [GRCh38] Chr1:20960405 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1600C>T (p.Gln534Ter) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002857327] |
Chr1:20650545 [GRCh38] Chr1:20977038 [GRCh37] Chr1:1p36.12 |
pathogenic |
NM_032409.3(PINK1):c.1176G>C (p.Glu392Asp) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002770257] |
Chr1:20648557 [GRCh38] Chr1:20975050 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.170_175dup (p.Arg58_Val59insGlyArg) |
duplication |
Autosomal recessive early-onset Parkinson disease 6 [RCV002648130] |
Chr1:20633717..20633718 [GRCh38] Chr1:20960210..20960211 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1099A>T (p.Asn367Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002719393] |
Chr1:20645699 [GRCh38] Chr1:20972192 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.388-3C>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003089580] |
Chr1:20637839 [GRCh38] Chr1:20964332 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.398C>T (p.Thr133Ile) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003089581] |
Chr1:20637852 [GRCh38] Chr1:20964345 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1273C>T (p.Pro425Ser) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002895468] |
Chr1:20649016 [GRCh38] Chr1:20975509 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.196C>T (p.Arg66Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003008762] |
Chr1:20633744 [GRCh38] Chr1:20960237 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1527_1530dup (p.Leu511fs) |
duplication |
Autosomal recessive early-onset Parkinson disease 6 [RCV003027398] |
Chr1:20650471..20650472 [GRCh38] Chr1:20976964..20976965 [GRCh37] Chr1:1p36.12 |
likely pathogenic |
NM_032409.3(PINK1):c.1367A>G (p.Gln456Arg) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002746381] |
Chr1:20649110 [GRCh38] Chr1:20975603 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.377A>C (p.Gln126Pro) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002630051] |
Chr1:20633925 [GRCh38] Chr1:20960418 [GRCh37] Chr1:1p36.12 |
likely pathogenic |
NM_032409.3(PINK1):c.384C>A (p.Ile128_Gln129=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002721568] |
Chr1:20633932 [GRCh38] Chr1:20960425 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.173G>A (p.Arg58Lys) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003050992] |
Chr1:20633721 [GRCh38] Chr1:20960214 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.599C>T (p.Ala200Val) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003092561] |
Chr1:20638053 [GRCh38] Chr1:20964546 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1123+12C>G |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003051380] |
Chr1:20645735 [GRCh38] Chr1:20972228 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1488+14C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003071675] |
Chr1:20649245 [GRCh38] Chr1:20975738 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1123+11G>A |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002607783] |
Chr1:20645734 [GRCh38] Chr1:20972227 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.1352A>T (p.Asn451Ile) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003072363] |
Chr1:20649095 [GRCh38] Chr1:20975588 [GRCh37] Chr1:1p36.12 |
uncertain significance |
NM_032409.3(PINK1):c.1123+15C>T |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV002609970] |
Chr1:20645738 [GRCh38] Chr1:20972231 [GRCh37] Chr1:1p36.12 |
likely benign |
NM_032409.3(PINK1):c.654C>T (p.Ile218_Lys219=) |
single nucleotide variant |
Autosomal recessive early-onset Parkinson disease 6 [RCV003073114] |
Chr1:20638108 [GRCh38] Chr1:20964601 [GRCh37] Chr1:1p36.12 |
likely benign |