| NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn) |
single nucleotide variant |
Parkinson disease 17 [RCV000023115] |
Chr16:46662452 [GRCh38]
Chr16:46696364 [GRCh37]
Chr16:16q11.2 |
pathogenic |
| NM_018206.6(VPS35):c.959C>T (p.Ala320Val) |
single nucleotide variant |
Parkinson disease 17 [RCV001497950]|not provided [RCV000520871] |
Chr16:46674616 [GRCh38]
Chr16:46708528 [GRCh37]
Chr16:16q11.2 |
likely benign|uncertain significance |
| NM_018206.6(VPS35):c.1938= (p.His646=) |
single nucleotide variant |
Parkinson disease 17 [RCV000549249] |
Chr16:46662372 [GRCh38]
Chr16:46696284 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.946C>T (p.Pro316Ser) |
single nucleotide variant |
Parkinson disease 17 [RCV000576928] |
Chr16:46674629 [GRCh38]
Chr16:46708541 [GRCh37]
Chr16:16q11.2 |
uncertain significance|not provided |
| NM_018206.6(VPS35):c.2210C>T (p.Ala737Val) |
single nucleotide variant |
Parkinson disease 17 [RCV000577103] |
Chr16:46661719 [GRCh38]
Chr16:46695631 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1796A>G (p.His599Arg) |
single nucleotide variant |
Parkinson disease 17 [RCV000577279] |
Chr16:46663014 [GRCh38]
Chr16:46696926 [GRCh37]
Chr16:16q11.2 |
uncertain significance|not provided |
| NM_018206.6(VPS35):c.2320C>A (p.Leu774Met) |
single nucleotide variant |
Parkinson disease 17 [RCV000577307]|not provided [RCV001092924] |
Chr16:46660543 [GRCh38]
Chr16:46694455 [GRCh37]
Chr16:16q11.2 |
likely pathogenic|uncertain significance |
| NM_018206.6(VPS35):c.1520A>T (p.Tyr507Phe) |
single nucleotide variant |
Parkinson disease 17 [RCV000577361] |
Chr16:46671709 [GRCh38]
Chr16:46705621 [GRCh37]
Chr16:16q11.2 |
uncertain significance|not provided |
| NM_018206.6(VPS35):c.723T>G (p.Ile241Met) |
single nucleotide variant |
Parkinson disease 17 [RCV000577548] |
Chr16:46677396 [GRCh38]
Chr16:46711308 [GRCh37]
Chr16:16q11.2 |
uncertain significance|not provided |
| NM_018206.6(VPS35):c.2359G>A (p.Glu787Lys) |
single nucleotide variant |
Parkinson disease 17 [RCV000577600] |
Chr16:46660504 [GRCh38]
Chr16:46694416 [GRCh37]
Chr16:16q11.2 |
uncertain significance|not provided |
| GRCh38/hg38 16q11.2-12.1(chr16:46466829-52314178)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052404]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052404]|See cases [RCV000052404] |
Chr16:46466829..52314178 [GRCh38]
Chr16:46500741..52348090 [GRCh37]
Chr16:45058242..50905591 [NCBI36]
Chr16:16q11.2-12.1 |
pathogenic |
| GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1 |
copy number loss |
See cases [RCV000053309] |
Chr16:46466829..51939304 [GRCh38]
Chr16:46500741..51973216 [GRCh37]
Chr16:45058242..50530717 [NCBI36]
Chr16:16q11.2-12.1 |
pathogenic |
| GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1 |
copy number loss |
See cases [RCV000053310] |
Chr16:46466829..51673196 [GRCh38]
Chr16:46500741..51707107 [GRCh37]
Chr16:45058242..50264608 [NCBI36]
Chr16:16q11.2-12.1 |
pathogenic |
| GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1 |
copy number loss |
See cases [RCV000053328] |
Chr16:46471520..52405956 [GRCh38]
Chr16:46505432..52439868 [GRCh37]
Chr16:45062933..50997369 [NCBI36]
Chr16:16q11.2-12.1 |
pathogenic |
| NM_018206.4(VPS35):c.1503G>A (p.Glu501=) |
single nucleotide variant |
Malignant melanoma [RCV000071131] |
Chr16:46671726 [GRCh38]
Chr16:46705638 [GRCh37]
Chr16:45263139 [NCBI36]
Chr16:16q11.2 |
not provided |
| NM_018206.6(VPS35):c.1576C>T (p.Arg526Cys) |
single nucleotide variant |
Parkinson disease, late-onset [RCV000082874] |
Chr16:46669001 [GRCh38]
Chr16:46702913 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*282_*283insAAAAAA |
insertion |
not provided [RCV002292923] |
Chr16:46660189..46660190 [GRCh38]
Chr16:46694101..46694102 [GRCh37]
Chr16:16q11.2 |
benign|likely benign |
| NM_018206.6(VPS35):c.1463A>G (p.Gln488Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000190799] |
Chr16:46671766 [GRCh38]
Chr16:46705678 [GRCh37]
Chr16:16q11.2 |
pathogenic|likely pathogenic |
| GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1 |
copy number loss |
See cases [RCV000137306] |
Chr16:46466829..52422170 [GRCh38]
Chr16:46500741..52456082 [GRCh37]
Chr16:45058242..51013583 [NCBI36]
Chr16:16q11.2-12.1 |
pathogenic |
| GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3 |
copy number gain |
See cases [RCV000137170] |
Chr16:46466829..52355793 [GRCh38]
Chr16:46500741..52389705 [GRCh37]
Chr16:45058242..50947206 [NCBI36]
Chr16:16q11.2-12.1 |
pathogenic |
| GRCh38/hg38 16q11.2(chr16:46471685-46767956)x3 |
copy number gain |
See cases [RCV000139506] |
Chr16:46471685..46767956 [GRCh38]
Chr16:46505597..46801868 [GRCh37]
Chr16:45063098..45359369 [NCBI36]
Chr16:16q11.2 |
likely benign |
| GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207138] |
Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3 |
uncertain significance |
| GRCh37/hg19 16q11.2-12.1(chr16:46615804-47345238)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207035] |
Chr16:46615804..47345238 [GRCh37]
Chr16:16q11.2-12.1 |
uncertain significance |
| NM_018206.6(VPS35):c.1488T>C (p.His496=) |
single nucleotide variant |
Parkinson disease 17 [RCV000282535] |
Chr16:46671741 [GRCh38]
Chr16:46705653 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.-19C>T |
single nucleotide variant |
Parkinson disease 17 [RCV000284739] |
Chr16:46689152 [GRCh38]
Chr16:46723064 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.851G>A (p.Arg284Gln) |
single nucleotide variant |
Parkinson disease 17 [RCV000286070] |
Chr16:46676646 [GRCh38]
Chr16:46710558 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*617A>G |
single nucleotide variant |
Parkinson disease 17 [RCV000271411] |
Chr16:46659855 [GRCh38]
Chr16:46693767 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*354G>C |
single nucleotide variant |
Parkinson disease 17 [RCV000296408] |
Chr16:46660118 [GRCh38]
Chr16:46694030 [GRCh37]
Chr16:16q11.2 |
benign|uncertain significance |
| NM_018206.6(VPS35):c.*281CA[1] |
microsatellite |
Parkinson Disease, Dominant [RCV000298816] |
Chr16:46660188..46660189 [GRCh38]
Chr16:46694100..46694101 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.678C>T (p.Arg226=) |
single nucleotide variant |
Parkinson disease 17 [RCV000343168]|not provided [RCV000888476] |
Chr16:46678985 [GRCh38]
Chr16:46712897 [GRCh37]
Chr16:16q11.2 |
likely benign|uncertain significance |
| NM_018206.6(VPS35):c.*762dup |
duplication |
Parkinson Disease, Dominant [RCV000320706] |
Chr16:46659709..46659710 [GRCh38]
Chr16:46693621..46693622 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.*278_*279insCAA |
insertion |
Parkinson Disease, Dominant [RCV000264915] |
Chr16:46660193..46660194 [GRCh38]
Chr16:46694105..46694106 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*276A>C |
single nucleotide variant |
Parkinson disease 17 [RCV000270947] |
Chr16:46660196 [GRCh38]
Chr16:46694108 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.-35C>T |
single nucleotide variant |
Parkinson disease 17 [RCV000395289] |
Chr16:46689168 [GRCh38]
Chr16:46723080 [GRCh37]
Chr16:16q11.2 |
likely benign|uncertain significance |
| NM_018206.6(VPS35):c.*287_*288insAAAC |
insertion |
Parkinson Disease, Dominant [RCV000292989] |
Chr16:46660184..46660185 [GRCh38]
Chr16:46694096..46694097 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*401G>A |
single nucleotide variant |
Parkinson disease 17 [RCV000326354] |
Chr16:46660071 [GRCh38]
Chr16:46693983 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*281delinsAAAA |
indel |
Parkinson Disease, Dominant [RCV000396970] |
Chr16:46660191 [GRCh38]
Chr16:46694103 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*281delinsAAAAA |
indel |
Parkinson Disease, Dominant [RCV000304917] |
Chr16:46660191 [GRCh38]
Chr16:46694103 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1035G>A (p.Glu345=) |
single nucleotide variant |
Parkinson disease 17 [RCV000373439] |
Chr16:46674439 [GRCh38]
Chr16:46708351 [GRCh37]
Chr16:16q11.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_018206.6(VPS35):c.*346G>A |
single nucleotide variant |
Parkinson disease 17 [RCV000351288] |
Chr16:46660126 [GRCh38]
Chr16:46694038 [GRCh37]
Chr16:16q11.2 |
benign|uncertain significance |
| NM_018206.6(VPS35):c.1912A>T (p.Met638Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004021660]|Parkinson disease 17 [RCV000374738] |
Chr16:46662398 [GRCh38]
Chr16:46696310 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*287dup |
duplication |
Parkinson Disease, Dominant [RCV000338377] |
Chr16:46660184..46660185 [GRCh38]
Chr16:46694096..46694097 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*258del |
deletion |
Parkinson Disease, Dominant [RCV000274464] |
Chr16:46660214 [GRCh38]
Chr16:46694126 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2241C>T (p.Ile747=) |
single nucleotide variant |
Parkinson disease 17 [RCV000878827]|not provided [RCV001558809] |
Chr16:46660622 [GRCh38]
Chr16:46694534 [GRCh37]
Chr16:16q11.2 |
benign|likely benign |
| NM_018206.6(VPS35):c.*761_*762dup |
duplication |
Parkinson Disease, Dominant [RCV000384542] |
Chr16:46659709..46659710 [GRCh38]
Chr16:46693621..46693622 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.89T>A (p.Met30Lys) |
single nucleotide variant |
Parkinson disease 17 [RCV000406026] |
Chr16:46683521 [GRCh38]
Chr16:46717433 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*287_*288insAAC |
insertion |
Parkinson Disease, Dominant [RCV000387294] |
Chr16:46660184..46660185 [GRCh38]
Chr16:46694096..46694097 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*285_*287dup |
duplication |
Parkinson Disease, Dominant [RCV000396974] |
Chr16:46660184..46660185 [GRCh38]
Chr16:46694096..46694097 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1145A>G (p.Lys382Arg) |
single nucleotide variant |
Parkinson disease 17 [RCV000873828]|not provided [RCV001642992] |
Chr16:46674329 [GRCh38]
Chr16:46708241 [GRCh37]
Chr16:16q11.2 |
benign|likely benign |
| NM_018206.6(VPS35):c.2212-218C>T |
single nucleotide variant |
not provided [RCV001575200] |
Chr16:46660869 [GRCh38]
Chr16:46694781 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.*380G>A |
single nucleotide variant |
Parkinson disease 17 [RCV000381008] |
Chr16:46660092 [GRCh38]
Chr16:46694004 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*276_*277insCAA |
insertion |
Parkinson Disease, Dominant [RCV000365405] |
Chr16:46660195..46660196 [GRCh38]
Chr16:46694107..46694108 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*283del |
deletion |
Parkinson Disease, Dominant [RCV000335029]|not provided [RCV001636901] |
Chr16:46660189 [GRCh38]
Chr16:46694101 [GRCh37]
Chr16:16q11.2 |
benign|uncertain significance |
| NM_018206.6(VPS35):c.*259_*260dup |
duplication |
Parkinson Disease, Dominant [RCV000387623] |
Chr16:46660211..46660212 [GRCh38]
Chr16:46694123..46694124 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_014321.4(ORC6):c.-20T>C |
single nucleotide variant |
Meier-Gorlin syndrome 3 [RCV001118968]|Meier-Gorlin syndrome [RCV000364037]|Parkinson Disease, Dominant [RCV000367122]|not specified [RCV000242816] |
Chr16:46689686 [GRCh38]
Chr16:46723598 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_014321.4(ORC6):c.-47G>A |
single nucleotide variant |
Meier-Gorlin syndrome 3 [RCV001118967]|Meier-Gorlin syndrome [RCV000307066]|Parkinson Disease, Dominant [RCV000333503]|not specified [RCV000248011] |
Chr16:46689659 [GRCh38]
Chr16:46723571 [GRCh37]
Chr16:16q11.2 |
benign|likely benign|uncertain significance |
| NM_018206.6(VPS35):c.-34G>A |
single nucleotide variant |
Meier-Gorlin syndrome [RCV000270575]|Parkinson disease 17 [RCV000346763] |
Chr16:46689167 [GRCh38]
Chr16:46723079 [GRCh37]
Chr16:16q11.2 |
benign|likely benign |
| NM_018206.6(VPS35):c.*277_*278insCA |
insertion |
Parkinson Disease, Dominant [RCV000310783] |
Chr16:46660194..46660195 [GRCh38]
Chr16:46694106..46694107 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*275_*276insCAA |
insertion |
Parkinson Disease, Dominant [RCV000326041] |
Chr16:46660196..46660197 [GRCh38]
Chr16:46694108..46694109 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*279_*280insCAAA |
insertion |
Parkinson Disease, Dominant [RCV000359515] |
Chr16:46660192..46660193 [GRCh38]
Chr16:46694104..46694105 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.171G>A (p.Met57Ile) |
single nucleotide variant |
Parkinson disease 17 [RCV000577231]|not provided [RCV002225672] |
Chr16:46682107 [GRCh38]
Chr16:46716019 [GRCh37]
Chr16:16q11.2 |
likely benign|uncertain significance|not provided |
| GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 |
copy number gain |
See cases [RCV000446110] |
Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3 |
pathogenic |
| GRCh37/hg19 16q11.2(chr16:46509686-46843488)x3 |
copy number gain |
See cases [RCV000446229] |
Chr16:46509686..46843488 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| GRCh37/hg19 16q11.2(chr16:46503406-46842785)x3 |
copy number gain |
See cases [RCV000447579] |
Chr16:46503406..46842785 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3 |
uncertain significance |
| GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 |
copy number gain |
See cases [RCV000511791] |
Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21 |
pathogenic |
| NM_018206.6(VPS35):c.151G>A (p.Gly51Ser) |
single nucleotide variant |
Parkinson disease 17 [RCV000577720]|not provided [RCV002225671] |
Chr16:46682127 [GRCh38]
Chr16:46716039 [GRCh37]
Chr16:16q11.2 |
benign|likely benign|uncertain significance |
| NM_018206.6(VPS35):c.204G>A (p.Met68Ile) |
single nucleotide variant |
not provided [RCV000493157] |
Chr16:46681496 [GRCh38]
Chr16:46715408 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1570C>T (p.Arg524Trp) |
single nucleotide variant |
Parkinson disease 17 [RCV000577554] |
Chr16:46669007 [GRCh38]
Chr16:46702919 [GRCh37]
Chr16:16q11.2 |
uncertain significance|not provided |
| NM_018206.6(VPS35):c.1679T>C (p.Ile560Thr) |
single nucleotide variant |
Parkinson disease 17 [RCV000576953] |
Chr16:46663131 [GRCh38]
Chr16:46697043 [GRCh37]
Chr16:16q11.2 |
uncertain significance|not provided |
| NM_018206.6(VPS35):c.1819A>G (p.Met607Val) |
single nucleotide variant |
Parkinson disease 17 [RCV000577708] |
Chr16:46662991 [GRCh38]
Chr16:46696903 [GRCh37]
Chr16:16q11.2 |
uncertain significance|not provided |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] |
Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3 |
drug response |
| GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] |
Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3 |
drug response |
| NM_018206.6(VPS35):c.1881C>T (p.Ala627=) |
single nucleotide variant |
Parkinson disease 17 [RCV000536603]|not provided [RCV003419982] |
Chr16:46662429 [GRCh38]
Chr16:46696341 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.945A>T (p.Gly315=) |
single nucleotide variant |
Parkinson disease 17 [RCV000649535]|not provided [RCV001815363] |
Chr16:46674630 [GRCh38]
Chr16:46708542 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1391T>C (p.Val464Ala) |
single nucleotide variant |
Parkinson disease 17 [RCV000560416] |
Chr16:46671838 [GRCh38]
Chr16:46705750 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_018206.6(VPS35):c.1313G>A (p.Cys438Tyr) |
single nucleotide variant |
Parkinson disease 17 [RCV000692928] |
Chr16:46672320 [GRCh38]
Chr16:46706232 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1550T>G (p.Phe517Cys) |
single nucleotide variant |
Parkinson disease 17 [RCV000702397] |
Chr16:46669027 [GRCh38]
Chr16:46702939 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3 |
pathogenic |
| NM_018206.6(VPS35):c.834T>C (p.Thr278=) |
single nucleotide variant |
Parkinson disease 17 [RCV002064753]|not provided [RCV000874086] |
Chr16:46676663 [GRCh38]
Chr16:46710575 [GRCh37]
Chr16:16q11.2 |
benign|likely benign |
| NC_000016.10:g.46689307C>T |
single nucleotide variant |
not provided [RCV001584952] |
Chr16:46689307 [GRCh38]
Chr16:46723219 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.914+96C>T |
single nucleotide variant |
not provided [RCV001567877] |
Chr16:46676487 [GRCh38]
Chr16:46710399 [GRCh37]
Chr16:16q11.2 |
likely benign |
| GRCh37/hg19 16q11.2-12.1(chr16:46499176-47003285)x3 |
copy number gain |
not provided [RCV000751665] |
Chr16:46499176..47003285 [GRCh37]
Chr16:16q11.2-12.1 |
benign |
| GRCh37/hg19 16q11.2-12.1(chr16:46531203-47074235)x3 |
copy number gain |
not provided [RCV000751666] |
Chr16:46531203..47074235 [GRCh37]
Chr16:16q11.2-12.1 |
benign |
| NM_018206.6(VPS35):c.506+71A>G |
single nucleotide variant |
not provided [RCV001549904] |
Chr16:46680600 [GRCh38]
Chr16:46714512 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1268C>T (p.Pro423Leu) |
single nucleotide variant |
Parkinson disease 17 [RCV001115899] |
Chr16:46672365 [GRCh38]
Chr16:46706277 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.1398G>A (p.Thr466=) |
single nucleotide variant |
Parkinson disease 17 [RCV002064743] |
Chr16:46671831 [GRCh38]
Chr16:46705743 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.2145A>G (p.Leu715=) |
single nucleotide variant |
Parkinson disease 17 [RCV001120833]|VPS35-related disorder [RCV003938395]|not provided [RCV003424431] |
Chr16:46661784 [GRCh38]
Chr16:46695696 [GRCh37]
Chr16:16q11.2 |
benign|likely benign |
| NM_018206.6(VPS35):c.1020A>G (p.Gln340=) |
single nucleotide variant |
Parkinson disease 17 [RCV000874497] |
Chr16:46674454 [GRCh38]
Chr16:46708366 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2007T>C (p.Ala669=) |
single nucleotide variant |
not provided [RCV000874989] |
Chr16:46662303 [GRCh38]
Chr16:46696215 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.915-3del |
deletion |
Parkinson disease 17 [RCV001515864]|Parkinson disease [RCV003994142] |
Chr16:46674663 [GRCh38]
Chr16:46708575 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.*289C>T |
single nucleotide variant |
Parkinson disease 17 [RCV001118869] |
Chr16:46660183 [GRCh38]
Chr16:46694095 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1420C>G (p.Gln474Glu) |
single nucleotide variant |
Parkinson disease 17 [RCV000807045] |
Chr16:46671809 [GRCh38]
Chr16:46705721 [GRCh37]
Chr16:16q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_018206.6(VPS35):c.-35C>G |
single nucleotide variant |
Parkinson disease 17 [RCV001118966] |
Chr16:46689168 [GRCh38]
Chr16:46723080 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*345T>G |
single nucleotide variant |
Parkinson disease 17 [RCV001118868] |
Chr16:46660127 [GRCh38]
Chr16:46694039 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2353G>C (p.Glu785Gln) |
single nucleotide variant |
Parkinson disease 17 [RCV001118873] |
Chr16:46660510 [GRCh38]
Chr16:46694422 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2073C>T (p.His691=) |
single nucleotide variant |
Parkinson disease 17 [RCV001120834] |
Chr16:46661856 [GRCh38]
Chr16:46695768 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| GRCh37/hg19 16q11.2(chr16:46503192-46708548)x3 |
copy number gain |
not provided [RCV000846795] |
Chr16:46503192..46708548 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1525-5G>T |
single nucleotide variant |
Parkinson disease 17 [RCV001115897] |
Chr16:46669057 [GRCh38]
Chr16:46702969 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1317T>C (p.Tyr439=) |
single nucleotide variant |
Parkinson disease 17 [RCV001115898] |
Chr16:46672316 [GRCh38]
Chr16:46706228 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2350C>A (p.Pro784Thr) |
single nucleotide variant |
Parkinson disease 17 [RCV001219052] |
Chr16:46660513 [GRCh38]
Chr16:46694425 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.648G>A (p.Leu216=) |
single nucleotide variant |
Parkinson disease 17 [RCV001117353] |
Chr16:46679015 [GRCh38]
Chr16:46712927 [GRCh37]
Chr16:16q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_018206.6(VPS35):c.1369-5T>C |
single nucleotide variant |
Parkinson disease 17 [RCV003104983] |
Chr16:46671865 [GRCh38]
Chr16:46705777 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.506+255T>C |
single nucleotide variant |
not provided [RCV001550265] |
Chr16:46680416 [GRCh38]
Chr16:46714328 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.324-211GT[13] |
microsatellite |
not provided [RCV001547323] |
Chr16:46681033..46681038 [GRCh38]
Chr16:46714945..46714950 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1524+115A>G |
single nucleotide variant |
not provided [RCV001617635] |
Chr16:46671590 [GRCh38]
Chr16:46705502 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.200-94T>A |
single nucleotide variant |
not provided [RCV001596104] |
Chr16:46681594 [GRCh38]
Chr16:46715506 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.323+98C>T |
single nucleotide variant |
not provided [RCV001667919] |
Chr16:46681279 [GRCh38]
Chr16:46715191 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.324-211GT[21] |
microsatellite |
not provided [RCV001561190] |
Chr16:46681032..46681033 [GRCh38]
Chr16:46714944..46714945 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.915-16dup |
duplication |
not provided [RCV001550517] |
Chr16:46674662..46674663 [GRCh38]
Chr16:46708574..46708575 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1524+41G>C |
single nucleotide variant |
not provided [RCV001677464] |
Chr16:46671664 [GRCh38]
Chr16:46705576 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.102+56T>G |
single nucleotide variant |
not provided [RCV001577608] |
Chr16:46683452 [GRCh38]
Chr16:46717364 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2212-188dup |
duplication |
not provided [RCV001716527] |
Chr16:46660820..46660821 [GRCh38]
Chr16:46694732..46694733 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.1648-24T>C |
single nucleotide variant |
not provided [RCV001609079] |
Chr16:46663186 [GRCh38]
Chr16:46697098 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.2211+11T>C |
single nucleotide variant |
Parkinson disease 17 [RCV001120832] |
Chr16:46661707 [GRCh38]
Chr16:46695619 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| Single allele |
duplication |
not provided [RCV001542388] |
Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21 |
pathogenic |
| NM_018206.6(VPS35):c.324-211GT[19] |
microsatellite |
not provided [RCV001564647] |
Chr16:46681032..46681033 [GRCh38]
Chr16:46714944..46714945 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.506+54T>C |
single nucleotide variant |
not provided [RCV001660799] |
Chr16:46680617 [GRCh38]
Chr16:46714529 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.1524+59G>A |
single nucleotide variant |
not provided [RCV001569987] |
Chr16:46671646 [GRCh38]
Chr16:46705558 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1647+102A>G |
single nucleotide variant |
not provided [RCV001597880] |
Chr16:46668828 [GRCh38]
Chr16:46702740 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.506+155G>A |
single nucleotide variant |
not provided [RCV001558826] |
Chr16:46680516 [GRCh38]
Chr16:46714428 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.935G>A (p.Arg312His) |
single nucleotide variant |
not provided [RCV002469717] |
Chr16:46674640 [GRCh38]
Chr16:46708552 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.805-265A>G |
single nucleotide variant |
not provided [RCV001659291] |
Chr16:46676957 [GRCh38]
Chr16:46710869 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.2212-188_2212-186dup |
duplication |
not provided [RCV001592731] |
Chr16:46660820..46660821 [GRCh38]
Chr16:46694732..46694733 [GRCh37]
Chr16:16q11.2 |
likely benign |
| GRCh37/hg19 16q11.2-12.1(chr16:46467497-47004071)x3 |
copy number gain |
not provided [RCV001006793] |
Chr16:46467497..47004071 [GRCh37]
Chr16:16q11.2-12.1 |
uncertain significance |
| NM_018206.6(VPS35):c.*283C>A |
single nucleotide variant |
Parkinson disease 17 [RCV001118870] |
Chr16:46660189 [GRCh38]
Chr16:46694101 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1900A>G (p.Thr634Ala) |
single nucleotide variant |
Parkinson disease 17 [RCV001120835] |
Chr16:46662410 [GRCh38]
Chr16:46696322 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.102+108T>C |
single nucleotide variant |
not provided [RCV001678926] |
Chr16:46683400 [GRCh38]
Chr16:46717312 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.2212-188_2212-187dup |
duplication |
not provided [RCV001612681] |
Chr16:46660820..46660821 [GRCh38]
Chr16:46694732..46694733 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.1151A>G (p.Asn384Ser) |
single nucleotide variant |
Parkinson disease 17 [RCV001061286] |
Chr16:46674323 [GRCh38]
Chr16:46708235 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*34A>G |
single nucleotide variant |
Parkinson disease 17 [RCV001118872] |
Chr16:46660438 [GRCh38]
Chr16:46694350 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.506+4A>C |
single nucleotide variant |
Parkinson disease 17 [RCV001233814] |
Chr16:46680667 [GRCh38]
Chr16:46714579 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1480T>A (p.Phe494Ile) |
single nucleotide variant |
Parkinson disease 17 [RCV001040151] |
Chr16:46671749 [GRCh38]
Chr16:46705661 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.993G>T (p.Gln331His) |
single nucleotide variant |
Parkinson disease 17 [RCV001235115] |
Chr16:46674582 [GRCh38]
Chr16:46708494 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1809A>T (p.Ala603=) |
single nucleotide variant |
Parkinson disease 17 [RCV001115896] |
Chr16:46663001 [GRCh38]
Chr16:46696913 [GRCh37]
Chr16:16q11.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_018206.6(VPS35):c.*161C>T |
single nucleotide variant |
Parkinson disease 17 [RCV001118871] |
Chr16:46660311 [GRCh38]
Chr16:46694223 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*575A>T |
single nucleotide variant |
Parkinson disease 17 [RCV001117238] |
Chr16:46659897 [GRCh38]
Chr16:46693809 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*422C>A |
single nucleotide variant |
Parkinson disease 17 [RCV001117239] |
Chr16:46660050 [GRCh38]
Chr16:46693962 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.505G>C (p.Asp169His) |
single nucleotide variant |
Parkinson disease 17 [RCV001117354] |
Chr16:46680672 [GRCh38]
Chr16:46714584 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| t(10;16)(q26;q11) |
translocation |
Glioma [RCV001256208] |
Chr10:123241693..123243211 [GRCh37]
Chr16:46717520..46722225 [GRCh37]
Chr10:10q26.13
Chr16:16q11.2 |
likely pathogenic |
| GRCh37/hg19 16q11.2-12.1(chr16:46503572-47114342)x3 |
copy number gain |
not provided [RCV001259852] |
Chr16:46503572..47114342 [GRCh37]
Chr16:16q11.2-12.1 |
uncertain significance |
| GRCh37/hg19 16q11.2-12.1(chr16:46503968-47312075)x3 |
copy number gain |
not provided [RCV001259853] |
Chr16:46503968..47312075 [GRCh37]
Chr16:16q11.2-12.1 |
uncertain significance |
| NM_018206.6(VPS35):c.2339G>A (p.Arg780Gln) |
single nucleotide variant |
Parkinson disease 17 [RCV002002038] |
Chr16:46660524 [GRCh38]
Chr16:46694436 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1895T>C (p.Ile632Thr) |
single nucleotide variant |
Parkinson disease 17 [RCV001321847] |
Chr16:46662415 [GRCh38]
Chr16:46696327 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.13C>T (p.Gln5Ter) |
single nucleotide variant |
Parkinson disease 17 [RCV001358877] |
Chr16:46683597 [GRCh38]
Chr16:46717509 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NC_000016.9:g.(?_46694384)_(46731497_?)dup |
duplication |
not provided [RCV001316308] |
Chr16:46694384..46731497 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1371G>A (p.Val457=) |
single nucleotide variant |
Parkinson disease 17 [RCV001407450] |
Chr16:46671858 [GRCh38]
Chr16:46705770 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1938C>T (p.His646=) |
single nucleotide variant |
Parkinson disease 17 [RCV001515378]|not specified [RCV001529449] |
Chr16:46662372 [GRCh38]
Chr16:46696284 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.324-211GT[17] |
microsatellite |
not provided [RCV001675491] |
Chr16:46681032..46681033 [GRCh38]
Chr16:46714944..46714945 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.1369-9A>G |
single nucleotide variant |
Parkinson disease 17 [RCV001491436] |
Chr16:46671869 [GRCh38]
Chr16:46705781 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1525-21del |
deletion |
not provided [RCV001686364] |
Chr16:46669073 [GRCh38]
Chr16:46702985 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.324-211GT[18] |
microsatellite |
not provided [RCV001715868] |
Chr16:46681032..46681033 [GRCh38]
Chr16:46714944..46714945 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.1893C>T (p.Ile631=) |
single nucleotide variant |
Parkinson disease 17 [RCV001497615] |
Chr16:46662417 [GRCh38]
Chr16:46696329 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1290C>T (p.Tyr430=) |
single nucleotide variant |
Parkinson disease 17 [RCV001400255] |
Chr16:46672343 [GRCh38]
Chr16:46706255 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1495C>T (p.Arg499Cys) |
single nucleotide variant |
Parkinson disease 17 [RCV001870649] |
Chr16:46671734 [GRCh38]
Chr16:46705646 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2222A>C (p.Gln741Pro) |
single nucleotide variant |
not provided [RCV001795678] |
Chr16:46660641 [GRCh38]
Chr16:46694553 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.324-211GT[20] |
microsatellite |
not provided [RCV001823402] |
Chr16:46681032..46681033 [GRCh38]
Chr16:46714944..46714945 [GRCh37]
Chr16:16q11.2 |
likely benign |
| GRCh37/hg19 16q11.2-12.1(chr16:46503328-47004071)x3 |
copy number gain |
not provided [RCV001829059] |
Chr16:46503328..47004071 [GRCh37]
Chr16:16q11.2-12.1 |
uncertain significance |
| NM_018206.6(VPS35):c.110A>G (p.Asn37Ser) |
single nucleotide variant |
Parkinson disease 17 [RCV001983502] |
Chr16:46682168 [GRCh38]
Chr16:46716080 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| GRCh37/hg19 16q11.2(chr16:46503406-46842785) |
copy number gain |
not specified [RCV002052527] |
Chr16:46503406..46842785 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2074G>A (p.Gly692Arg) |
single nucleotide variant |
Parkinson disease 17 [RCV001964213] |
Chr16:46661855 [GRCh38]
Chr16:46695767 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.893T>C (p.Ile298Thr) |
single nucleotide variant |
not provided [RCV002052343] |
Chr16:46676604 [GRCh38]
Chr16:46710516 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2060G>A (p.Gly687Glu) |
single nucleotide variant |
Parkinson disease 17 [RCV002030299] |
Chr16:46662250 [GRCh38]
Chr16:46696162 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NC_000016.9:g.(?_46694384)_(46755125_?)dup |
duplication |
not provided [RCV001958286] |
Chr16:46694384..46755125 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1262T>A (p.Phe421Tyr) |
single nucleotide variant |
Parkinson disease 17 [RCV002027976] |
Chr16:46672371 [GRCh38]
Chr16:46706283 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.977A>T (p.Asp326Val) |
single nucleotide variant |
Parkinson disease 17 [RCV001879491] |
Chr16:46674598 [GRCh38]
Chr16:46708510 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1804G>A (p.Val602Ile) |
single nucleotide variant |
Parkinson disease 17 [RCV001904655] |
Chr16:46663006 [GRCh38]
Chr16:46696918 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1142A>G (p.Asn381Ser) |
single nucleotide variant |
Parkinson disease 17 [RCV001880340]|not provided [RCV003426222] |
Chr16:46674332 [GRCh38]
Chr16:46708244 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NC_000016.9:g.(?_46694384)_(46782105_?)dup |
duplication |
Parkinson disease 17 [RCV001919013]|not provided [RCV001943132] |
Chr16:46694384..46782105 [GRCh37]
Chr16:16q11.2 |
uncertain significance|no classifications from unflagged records |
| NM_018206.6(VPS35):c.4-15T>C |
single nucleotide variant |
Parkinson disease 17 [RCV002166663] |
Chr16:46683621 [GRCh38]
Chr16:46717533 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.914+11C>A |
single nucleotide variant |
Parkinson disease 17 [RCV002205125] |
Chr16:46676572 [GRCh38]
Chr16:46710484 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2068-18C>G |
single nucleotide variant |
Parkinson disease 17 [RCV002085010] |
Chr16:46661879 [GRCh38]
Chr16:46695791 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1557T>C (p.Ala519=) |
single nucleotide variant |
Parkinson disease 17 [RCV002210335] |
Chr16:46669020 [GRCh38]
Chr16:46702932 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1002A>G (p.Thr334=) |
single nucleotide variant |
Parkinson disease 17 [RCV002213332] |
Chr16:46674573 [GRCh38]
Chr16:46708485 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2316C>T (p.Asn772=) |
single nucleotide variant |
Parkinson disease 17 [RCV002194335] |
Chr16:46660547 [GRCh38]
Chr16:46694459 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2122A>C (p.Asn708His) |
single nucleotide variant |
Parkinson disease 17 [RCV002094197]|VPS35-related disorder [RCV003951171]|not provided [RCV003326614] |
Chr16:46661807 [GRCh38]
Chr16:46695719 [GRCh37]
Chr16:16q11.2 |
benign|likely benign |
| NM_018206.6(VPS35):c.9A>C (p.Thr3=) |
single nucleotide variant |
Parkinson disease 17 [RCV002204727] |
Chr16:46683601 [GRCh38]
Chr16:46717513 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.915-16T>G |
single nucleotide variant |
Parkinson disease 17 [RCV002163010] |
Chr16:46674676 [GRCh38]
Chr16:46708588 [GRCh37]
Chr16:16q11.2 |
benign|likely benign |
| NM_018206.6(VPS35):c.222G>A (p.Leu74=) |
single nucleotide variant |
Parkinson disease 17 [RCV002103442] |
Chr16:46681478 [GRCh38]
Chr16:46715390 [GRCh37]
Chr16:16q11.2 |
likely benign |
| GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 |
copy number gain |
not provided [RCV002221458] |
Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3 |
pathogenic |
| NM_018206.6(VPS35):c.1368+17G>A |
single nucleotide variant |
Parkinson disease 17 [RCV002142991] |
Chr16:46672248 [GRCh38]
Chr16:46706160 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2049G>A (p.Thr683=) |
single nucleotide variant |
Parkinson disease 17 [RCV002175712] |
Chr16:46662261 [GRCh38]
Chr16:46696173 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NC_000016.9:g.(?_46694384)_(48258199_?)dup |
duplication |
Glycogen storage disease IXb [RCV003110959] |
Chr16:46694384..48258199 [GRCh37]
Chr16:16q11.2-12.1 |
uncertain significance |
| NC_000016.9:g.(?_46694384)_(46746708_?)dup |
duplication |
not provided [RCV003113917] |
Chr16:46694384..46746708 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NC_000016.9:g.(?_46694384)_(46782105_?)del |
deletion |
not provided [RCV003113918] |
Chr16:46694384..46782105 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.267G>A (p.Arg89=) |
single nucleotide variant |
Parkinson disease 17 [RCV003121642] |
Chr16:46681433 [GRCh38]
Chr16:46715345 [GRCh37]
Chr16:16q11.2 |
likely benign |
| GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 |
copy number gain |
not provided [RCV002472562] |
Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21 |
pathogenic |
| NM_018206.6(VPS35):c.1427T>C (p.Val476Ala) |
single nucleotide variant |
Parkinson disease 17 [RCV002903975] |
Chr16:46671802 [GRCh38]
Chr16:46705714 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| GRCh37/hg19 16q11.2(chr16:46503407-46860107)x3 |
copy number gain |
not provided [RCV002475850] |
Chr16:46503407..46860107 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2212-10dup |
duplication |
Parkinson disease 17 [RCV002615604] |
Chr16:46660660..46660661 [GRCh38]
Chr16:46694572..46694573 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2268T>A (p.Asn756Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002817973] |
Chr16:46660595 [GRCh38]
Chr16:46694507 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.935G>T (p.Arg312Leu) |
single nucleotide variant |
Parkinson disease 17 [RCV002971994] |
Chr16:46674640 [GRCh38]
Chr16:46708552 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1191A>G (p.Glu397=) |
single nucleotide variant |
Parkinson disease 17 [RCV002909523] |
Chr16:46672442 [GRCh38]
Chr16:46706354 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.340G>A (p.Val114Ile) |
single nucleotide variant |
Parkinson disease 17 [RCV002820969] |
Chr16:46680837 [GRCh38]
Chr16:46714749 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.199+14G>T |
single nucleotide variant |
Parkinson disease 17 [RCV002889303] |
Chr16:46682065 [GRCh38]
Chr16:46715977 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1466G>T (p.Ser489Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002869614] |
Chr16:46671763 [GRCh38]
Chr16:46705675 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2067+14T>C |
single nucleotide variant |
Parkinson disease 17 [RCV002785338] |
Chr16:46662229 [GRCh38]
Chr16:46696141 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1477C>T (p.Arg493Cys) |
single nucleotide variant |
Parkinson disease 17 [RCV002705365]|not provided [RCV003236934] |
Chr16:46671752 [GRCh38]
Chr16:46705664 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1538C>A (p.Ala513Glu) |
single nucleotide variant |
Parkinson disease 17 [RCV002658959] |
Chr16:46669039 [GRCh38]
Chr16:46702951 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.914+16A>G |
single nucleotide variant |
Parkinson disease 17 [RCV002594652] |
Chr16:46676567 [GRCh38]
Chr16:46710479 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.285C>T (p.Tyr95=) |
single nucleotide variant |
Parkinson disease 17 [RCV002932288] |
Chr16:46681415 [GRCh38]
Chr16:46715327 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1642A>G (p.Lys548Glu) |
single nucleotide variant |
Parkinson disease 17 [RCV002932909] |
Chr16:46668935 [GRCh38]
Chr16:46702847 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1226dup (p.Tyr409Ter) |
duplication |
Parkinson disease 17 [RCV003057363] |
Chr16:46672406..46672407 [GRCh38]
Chr16:46706318..46706319 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1120G>A (p.Glu374Lys) |
single nucleotide variant |
Parkinson disease 17 [RCV002875978] |
Chr16:46674354 [GRCh38]
Chr16:46708266 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1716C>G (p.Ile572Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002713514] |
Chr16:46663094 [GRCh38]
Chr16:46697006 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.106A>G (p.Lys36Glu) |
single nucleotide variant |
Parkinson disease 17 [RCV003007608] |
Chr16:46682172 [GRCh38]
Chr16:46716084 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2295G>C (p.Gln765His) |
single nucleotide variant |
Parkinson disease 17 [RCV002918227] |
Chr16:46660568 [GRCh38]
Chr16:46694480 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.103-17T>C |
single nucleotide variant |
Parkinson disease 17 [RCV002875763] |
Chr16:46682192 [GRCh38]
Chr16:46716104 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1541G>A (p.Arg514Gln) |
single nucleotide variant |
Parkinson disease 17 [RCV002594442] |
Chr16:46669036 [GRCh38]
Chr16:46702948 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.978T>C (p.Asp326=) |
single nucleotide variant |
Parkinson disease 17 [RCV003061589] |
Chr16:46674597 [GRCh38]
Chr16:46708509 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1447G>T (p.Asp483Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002897937] |
Chr16:46671782 [GRCh38]
Chr16:46705694 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.4-18G>A |
single nucleotide variant |
Parkinson disease 17 [RCV003060174] |
Chr16:46683624 [GRCh38]
Chr16:46717536 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2068-19C>T |
single nucleotide variant |
Parkinson disease 17 [RCV003060520] |
Chr16:46661880 [GRCh38]
Chr16:46695792 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.102+4A>G |
single nucleotide variant |
Parkinson disease 17 [RCV002672184] |
Chr16:46683504 [GRCh38]
Chr16:46717416 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.894A>C (p.Ile298=) |
single nucleotide variant |
Parkinson disease 17 [RCV003060322] |
Chr16:46676603 [GRCh38]
Chr16:46710515 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.721-16G>A |
single nucleotide variant |
Parkinson disease 17 [RCV003065051] |
Chr16:46677414 [GRCh38]
Chr16:46711326 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1368+15A>G |
single nucleotide variant |
Parkinson disease 17 [RCV002650604] |
Chr16:46672250 [GRCh38]
Chr16:46706162 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.144T>C (p.Asn48=) |
single nucleotide variant |
Parkinson disease 17 [RCV002606029] |
Chr16:46682134 [GRCh38]
Chr16:46716046 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1802C>T (p.Thr601Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003220550] |
Chr16:46663008 [GRCh38]
Chr16:46696920 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_014321.4(ORC6):c.4G>A (p.Gly2Arg) |
single nucleotide variant |
not provided [RCV003218916] |
Chr16:46689709 [GRCh38]
Chr16:46723621 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.915-120_915-117del |
deletion |
not provided [RCV003324925] |
Chr16:46674777..46674780 [GRCh38]
Chr16:46708689..46708692 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.199+8T>C |
single nucleotide variant |
Parkinson disease 17 [RCV003641084]|not provided [RCV003326941] |
Chr16:46682071 [GRCh38]
Chr16:46715983 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.1161T>G (p.His387Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003367371] |
Chr16:46672472 [GRCh38]
Chr16:46706384 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| GRCh37/hg19 16q11.2(chr16:46503407-46972876)x3 |
copy number gain |
not provided [RCV003485113] |
Chr16:46503407..46972876 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.*282_*283insAAAAAAA |
insertion |
not provided [RCV003419315] |
Chr16:46660189..46660190 [GRCh38]
Chr16:46694101..46694102 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.3+24A>G |
single nucleotide variant |
not provided [RCV003419317] |
Chr16:46689107 [GRCh38]
Chr16:46723019 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.696T>C (p.Gly232=) |
single nucleotide variant |
not provided [RCV003419316] |
Chr16:46678967 [GRCh38]
Chr16:46712879 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1327A>G (p.Asn443Asp) |
single nucleotide variant |
VPS35-related disorder [RCV003417139] |
Chr16:46672306 [GRCh38]
Chr16:46706218 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1795C>G (p.His599Asp) |
single nucleotide variant |
Parkinson disease 17 [RCV003529255] |
Chr16:46663015 [GRCh38]
Chr16:46696927 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.100C>T (p.Leu34=) |
single nucleotide variant |
Parkinson disease 17 [RCV003529218] |
Chr16:46683510 [GRCh38]
Chr16:46717422 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2181T>C (p.Tyr727=) |
single nucleotide variant |
Parkinson disease 17 [RCV003529069] |
Chr16:46661748 [GRCh38]
Chr16:46695660 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.762G>A (p.Arg254=) |
single nucleotide variant |
Parkinson disease 17 [RCV003529105] |
Chr16:46677357 [GRCh38]
Chr16:46711269 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1803A>G (p.Thr601=) |
single nucleotide variant |
Parkinson disease 17 [RCV003529129] |
Chr16:46663007 [GRCh38]
Chr16:46696919 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2061G>C (p.Gly687=) |
single nucleotide variant |
Parkinson disease 17 [RCV003529173] |
Chr16:46662249 [GRCh38]
Chr16:46696161 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.883G>A (p.Val295Met) |
single nucleotide variant |
Parkinson disease 17 [RCV003826438] |
Chr16:46676614 [GRCh38]
Chr16:46710526 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1291_1292delinsTT (p.Glu431Leu) |
indel |
Parkinson disease 17 [RCV003833121] |
Chr16:46672341..46672342 [GRCh38]
Chr16:46706253..46706254 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.942T>C (p.Asp314=) |
single nucleotide variant |
Parkinson disease 17 [RCV003640864] |
Chr16:46674633 [GRCh38]
Chr16:46708545 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.3+17C>T |
single nucleotide variant |
Parkinson disease 17 [RCV003641400] |
Chr16:46689114 [GRCh38]
Chr16:46723026 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1331T>C (p.Val444Ala) |
single nucleotide variant |
Parkinson disease 17 [RCV003641457] |
Chr16:46672302 [GRCh38]
Chr16:46706214 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1537G>C (p.Ala513Pro) |
single nucleotide variant |
Parkinson disease 17 [RCV003641503] |
Chr16:46669040 [GRCh38]
Chr16:46702952 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1277A>C (p.Glu426Ala) |
single nucleotide variant |
Parkinson disease 17 [RCV003860866] |
Chr16:46672356 [GRCh38]
Chr16:46706268 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1119A>G (p.Leu373=) |
single nucleotide variant |
Parkinson disease 17 [RCV003640390] |
Chr16:46674355 [GRCh38]
Chr16:46708267 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1369-12C>T |
single nucleotide variant |
Parkinson disease 17 [RCV003871974] |
Chr16:46671872 [GRCh38]
Chr16:46705784 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.2364G>T (p.Gly788=) |
single nucleotide variant |
Parkinson disease 17 [RCV003870481] |
Chr16:46660499 [GRCh38]
Chr16:46694411 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1304G>A (p.Ser435Asn) |
single nucleotide variant |
Parkinson disease 17 [RCV003871181] |
Chr16:46672329 [GRCh38]
Chr16:46706241 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1482C>T (p.Phe494=) |
single nucleotide variant |
Parkinson disease 17 [RCV003642256] |
Chr16:46671747 [GRCh38]
Chr16:46705659 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1586T>A (p.Leu529Gln) |
single nucleotide variant |
Parkinson disease 17 [RCV003640557] |
Chr16:46668991 [GRCh38]
Chr16:46702903 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.915-17G>T |
single nucleotide variant |
Parkinson disease 17 [RCV003642190] |
Chr16:46674677 [GRCh38]
Chr16:46708589 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.755A>G (p.Asn252Ser) |
single nucleotide variant |
Parkinson disease 17 [RCV003640675] |
Chr16:46677364 [GRCh38]
Chr16:46711276 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1194C>T (p.Leu398=) |
single nucleotide variant |
Parkinson disease 17 [RCV003640793] |
Chr16:46672439 [GRCh38]
Chr16:46706351 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.507-14C>G |
single nucleotide variant |
Parkinson disease 17 [RCV003641616] |
Chr16:46679170 [GRCh38]
Chr16:46713082 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.265A>T (p.Arg89Trp) |
single nucleotide variant |
VPS35-related disorder [RCV003901981] |
Chr16:46681435 [GRCh38]
Chr16:46715347 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.831G>A (p.Gln277=) |
single nucleotide variant |
VPS35-related disorder [RCV003923818] |
Chr16:46676666 [GRCh38]
Chr16:46710578 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.915-4_915-3del |
deletion |
VPS35-related disorder [RCV003937195] |
Chr16:46674663..46674664 [GRCh38]
Chr16:46708575..46708576 [GRCh37]
Chr16:16q11.2 |
benign |
| NM_018206.6(VPS35):c.103-4G>A |
single nucleotide variant |
VPS35-related disorder [RCV003909544] |
Chr16:46682179 [GRCh38]
Chr16:46716091 [GRCh37]
Chr16:16q11.2 |
likely benign |
| NM_018206.6(VPS35):c.1467C>G (p.Ser489Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004482804] |
Chr16:46671762 [GRCh38]
Chr16:46705674 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.1963C>G (p.Leu655Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004482805] |
Chr16:46662347 [GRCh38]
Chr16:46696259 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2048C>T (p.Thr683Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004482806] |
Chr16:46662262 [GRCh38]
Chr16:46696174 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.2355A>C (p.Glu785Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004482807] |
Chr16:46660508 [GRCh38]
Chr16:46694420 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.413G>A (p.Arg138His) |
single nucleotide variant |
Inborn genetic diseases [RCV004482808] |
Chr16:46680764 [GRCh38]
Chr16:46714676 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NM_018206.6(VPS35):c.850C>T (p.Arg284Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004482809] |
Chr16:46676647 [GRCh38]
Chr16:46710559 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NC_000016.9:g.(?_46694384)_(46764630_?)dup |
duplication |
not provided [RCV004582904] |
Chr16:46694384..46764630 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
| NC_000016.9:g.(?_46694384)_(46743603_?)dup |
duplication |
not provided [RCV004582903] |
Chr16:46694384..46743603 [GRCh37]
Chr16:16q11.2 |
uncertain significance |
